Variant report for hu025CEA
- Data source: CGI sample GS01669-DNA_D02 from PGP sample 27316983
- This report: evidence.pgp-hms.org/genomes?9d458d468b9d4b6a4b3fe69644de6856f9dbf1b2
- Person ID: hu025CEA
- public profile: my.pgp-hms.org/profile/hu025CEA
- Download: source data, dbSNP and nsSNP report (122 MB)
- Processing status: processing
- Show debugging info
Log file:
Row number | Variant | Clinical Importance | Evidence | Impact | Allele freq | Summary | Sufficient |
---|---|---|---|---|---|---|---|
1 | APOE-C130R | High | Well-established | Well-established pathogenic Complex/Other, Heterozygous | 0.135392 | This is generally known as the ApoE4 allele of ApoE and is associated with increased risk of Alzheimer's. 20-25% of individuals are heterozygous for this variant, and 1-2% are homozygous. Data from Khachaturian et al. suggests an average 7% of all individuals developed Alzheimer's by the age of 80; when this is split by ApoE4 status: 10% of ApoE4 heterozygotes (3% increased attributable risk), 40% of ApoE4 homozygotes (33% increased attributable risk), and 5% of non-carriers (2% decreased attributable risk). Notably, their model suggests 70-75% of people would eventually develop Alzheimer's by the age of 100 regardless of ApoE4 genotype (and 25-30% are resistant, regardless of genotype), but that ApoE4 variants shift the disease onset to occur significantly earlier (4 years earlier for heterozygous carriers, 13 years for homozygotes). | 1 |
2 | NOD2-R702W | Low | Likely | Likely pathogenic Complex/Other, Heterozygous | 0.0334821 | NOD2 encodes a protein involved in bacterial recognition. This variant is associated with Crohn's disease in European populations, but not in Korean or Japanese groups. | 1 |
3 | MBL2-R52C | Low | Likely | Likely pathogenic Recessive, Carrier (Heterozygous) | 0.048615 | This variant is associated with mannose binding protein deficiency which leads to impaired complement system immune response to mannose-rich pathogens. Patients homozygous for this allele or compound heterozygous are likely to have increased susceptibility to infection, but Hellemann et al. report heterosis for intensive care outcomes in heterozygous subjects. The wild-type version of this gene is known as variant allele A, while this is called variant allele D. See G54D (variant B) and G57E (variant C). | 1 |
4 | APOA5-S19W | Low | Likely | Likely pathogenic Unknown, Heterozygous | 0.0646151 | This variant, also known as APOA5*3, is associated with higher plasma triglyceride concentrations but no significant correlation with coronary artery disease itself has been found. | 1 |
5 | MTRR-I49M | Low | Likely | Likely pathogenic Recessive, Carrier (Heterozygous) | 0.451199 | This common variant (HapMap allele frequency of 31.3%) in a protein involved in folate (B9) and cobalamin (B12) metabolism and is often reported as "MTRR I22M" (an alternative transcript position). Mothers homozygous for this variant are associated with having around a increased chance of a child with Down syndrome (risk of 0.4%, average risk in population is 0.25%). Notably, age plays a far larger role in the rate of Down syndrome (risk is 4.5% for a mother 45-years-of-age), and it is unknown how this variant may combine with the effect of age. There are conflicting reports associating this variant with incidence of neural tube defects, possibly when combined with MTHFR A222V. | 1 |
6 | ELAC2-S217L | Low | Uncertain | Uncertain pathogenic Complex/Other, Heterozygous | 0.273471 | Reported to be associated with increased susceptibility to prostate cancer, but later studies weaken the hypothesis. Xu et al.'s meta-analysis concludes that there is a small but significant increased risk (OR = 1.13). Assuming a lifetime risk of 16% for prostate cancer we calculate this leads to an increased risk of ~1.5% (17.5% total). | 1 |
7 | TGIF1-P83Shift | Low | Uncertain | Uncertain pathogenic Complex/Other, Heterozygous | 0.138889 | Severe variants in this gene are associated with holoprosencephaly disorders when combined with loss-of-function variants in SHH. Haploinsufficiency was identified in some families with this condition. It is unclear how likely this variant is to occur in combination with an SHH variant, or what phenotypic effect the variant would have on its own. | 1 |
8 | SP110-L425S | Low | Uncertain | Uncertain pathogenic Unknown, Homozygous | 0.863357 | This variant is associated with a slightly increased risk of tuberculosis. It is unclear whether it is itself causal, or in linkage disequilibrium with some other causal variant that has a stronger effect. | 1 |
9 | HFE-H63D | Low | Uncertain | Uncertain pathogenic Recessive, Carrier (Heterozygous) | 0.109965 | There have been some hypotheses that this variant contributes to causing hereditary hemochromatosis, possibly as a compound heterozygote, but some others treat it as a polymorphism. Cys282Tyr is the classic causal variant and itself has very low penetrance. Mouse studies indicates this variant has a similar but weaker effect; if it has any effect at all its penetrance may be quite low and/or require modifier alleles. | 1 |
10 | BRCA2-N372H | Low | Uncertain | Uncertain pathogenic Recessive, Carrier (Heterozygous) | 0.23656 | This is a common variant of BRCA2 (HapMap allele frequency of 23%). The variant is weakly associated with an increased chance of breast cancer, and zygosity of the variant is associated with sex of children: male children are more likely to be homozygous for this variant, female children are more likely to be heterozygous. | 1 |
11 | CD40LG-G219R | Low | Uncertain | Uncertain pathogenic Recessive, Carrier (Heterozygous) | 0.0114142 | Study of a single family with X-linked immunodeficiency implicated this variant as causal when combined with XIAP-G466X. The authors' hypothesis is that either variant alone has much less effect, if any. Because 2% of males carry this variant, it is very unlikely that the variant alone has any severe effect. | 1 |
12 | WFS1-R611H | Low | Uncertain | Uncertain not reviewed Recessive, Carrier (Heterozygous) | 0.400446 | This nonsynonymous SNP is associated with Wolfram Syndrome (known as DIDMOAD), which is characterized by early-onset non-autoimmune diabetes mellitus, diabetes insipidus, optic atrophy, and deafness) and to adult Type Two Diabetes Mellitus. The WFS1 gene maps to chromosome 4p16.3. The variant has been shown to be statistically associated with type II diabetes in six UK studies and one study of Ashkenazi Jews (Sandhu, M., et al., Minton et al.). | 1 |
13 | TP53-P72R | Low | Uncertain | Uncertain pathogenic Unknown, Homozygous | 0.627743 | This is a common variant was first reported as a polymorphism. It has since had mixed associations with cancer: Storey et al. conclude a 7x *increased* risk of HPV cancer for homozygotes vs hets, but Jones et al. find a 1.98x *decreased* risk for colorectal cancer. This variant may have significant impact on particular cancers, but it is unclear what effect it has on the overall burden of cancer. | 1 |
14 | rs1544410 | Low | Uncertain | Uncertain pharmacogenetic Unknown, Homozygous | 0.351562 | rs1544410 is a Vitamin D Receptor (VDR) single nucleotide polymorphism. It is unlikely that it has functional significance because it is located in an intron (Liu et. al.), but it is in strong linkage disequilibrium with rs731236 (Dvornyk et al), which is located in an exon. | 1 |
15 | ABCC6-R1268Q | Low | Uncertain | Uncertain pharmacogenetic Unknown, Heterozygous | 0.218907 | This common polymorphism appears to not have a significant phenotypic impact. A few studies report weak but significant associations with plasma lipids (in Inuits) and thalidomide toxicity. | 1 |
16 | FUT2-W154X | Moderate | Well-established | Well-established protective Recessive, Carrier (Heterozygous) | 0.490519 | This recessive protective variant confers resistance to norovirus (which causes stomach flu). 20% of Caucasians and Africans are homozygous for this variant and are "non-secretors": they do not express ABO blood type antigens in their saliva or mucosal surfaces. Most strains of norovirus bind to these antigens in the gut, and so this non-secretor status confers almost total resistantance to most types of norovirus. There are notable exceptions, some strains of norovirus bind a different target and are equally infectious for secretors and non-secretors. | 1 |
17 | PRNP-M129V | Low | Well-established | Well-established protective Complex/Other, Heterozygous | 0.339561 | This variant is associated with some protective effects for prion disease -- individuals homozygous for this variant are less susceptible to Creutzfeldt-Jakob, and Papua New Guinea individuals heterozygotes at this site are less susceptible to kuru. | 1 |
18 | CFH-V62I | Low | Likely | Likely protective Complex/Other, Heterozygous | 0.391616 | Associated with a decreased risk for age related macular degeneration (ARMD). Homozygotes for this have a 4-5% decreased attributable risk (3-4% vs. average 8% risk), heterozygotes have slightly lower than average risk (7%). Non-carriers have an increased risk (12-13%). ARMD impairs sharp vision as age progresses. While there is no cure, treatment can slow progression of the disease and environmental factors (smoking and obesity) contribute to higher risk. | 1 |
19 | TOR1A-D216H | Low | Likely | Likely protective Unknown, Heterozygous | 0.102993 | This SNP has been shown to be benign and play a protective role against Dystonia. | 1 |
20 | ABCG5-R50C | Low | Likely | Likely protective Unknown, Heterozygous | 0.0684142 | This variant has a mild protective effect on blood cholesterol. It is associated with slightly lower total and LDL cholesterol levels. | 1 |
21 | KCNJ11-K23E | Low | Likely | Likely protective Unknown, Homozygous | 0.738148 | This variant is associated with decreased risk of type 2 diabetes. It is unclear whether this variant has additive effects, or acts in a dominant or recessive manner. Assuming diabetes has a lifetime risk of 36%, we estimate a decreased risk of around 1-2% per copy of this variant. | 1 |
22 | MTR-D919G | Low | Uncertain | Uncertain protective Complex/Other, Heterozygous | 0.217234 | This variant was weakly associated with a protective effect vs. colorectal cancer, but only in individuals with low alcohol consumption. | 1 |
23 | LPL-S474X | Low | Uncertain | Uncertain protective Unknown, Heterozygous | 0.0844953 | This variant actually increases LPL enzyme activity despite creating a termination codon (see Rip J et al). It appears to be a protective variant, associated with lower triglyceride levels--although the effect is quite weak and explains only 0.5-1% of triglyceride variation. | 1 |
24 | IRS2-G1057D | Low | Uncertain | Uncertain protective Unknown, Heterozygous | 0.232615 | a.k.a Gly1057Asp, insulin receptor substrate-2 IRS2. The rs1805097(G) allele is associated with the Gly, and the (A) allele with Asp. A longevity study concluded that rs1805097(A;A) individuals were about twice as likely to live over 85 y/o (odds ratio 2.03, CI:1.39-2.99, p = .0003). | 1 |
25 | TYR-R402Q | Low | Well-established | Well-established benign Complex/Other, Heterozygous | 0.204964 | This is a frequent pigmentation polymorphism in Europeans that affects function of the Tyrosinase gene. It is associated with blue instead of green eyes and sun sensitivity. For the most part this variant is benign, but many individuals with ocular albinism (which affects only the eyes) carry this variant along with another more severe variant in the same gene. | 1 |
26 | OCA2-R305W | Low | Likely | Likely benign Unknown, Heterozygous | 0.0815207 | This variant is associated with eye color, as is OCA2 Arg419Gln. Individuals with this variant are more likely to have brown/black eyes (as opposed to blue/gray or green/hazel). Other variants in this gene are associated with oculocutaneous albinism (albinism which involves skin and eyes). | 1 |
27 | PKD1-A4059V | Low | Likely | Likely benign Unknown, Heterozygous | 0.0570413 | Probably benign. | 1 |
28 | FLT4-N149D | Low | Likely | Likely benign Unknown, Heterozygous | 0.0725056 | Other severe variants in this gene are implicated in causing Milroy Disease (primary lymphedema) in a recessive manner. Although this variant is rare (2.3% allele frequency), it is still common enough that it is highly unlikely to have a severe, high penetrance pathogenic effect. | 1 |
29 | CEP290-D664G | Low | Likely | Likely benign Unknown, Heterozygous | 0.00878754 | Reported as a non-pathogenic polymorphism, appears to be more common in East Asians. | 1 |
30 | PMS2-P470S | Low | Likely | Likely benign Unknown, Heterozygous | 0.374884 | Benign, common variant. | 1 |
31 | EFHC1-R182H | Low | Likely | Likely benign Unknown, Heterozygous | 0.0439673 | Probably benign. OMIM appears to incorrectly interpret literature as linking this variant to juvenile myoclonic epilepsy; the authors report it as a polymorphism. | 1 |
32 | COL6A3-D2831H | Low | Likely | Likely benign Unknown, Heterozygous | 0.0678565 | Probably benign, reported by Pan et al. as a presumed-nonpathogenic variant in the gene. | 1 |
33 | GUCY2D-A52S | Low | Uncertain | Uncertain benign Recessive, Homozygous | 0.21016 | One publication suggested that this variant possibly causes Leber's congenital amaurosis in a recessive manner, but the frequency data (36% in 1000 genomes) contradicts any significant pathogenic effect. | 1 |
34 | KEL-T193M | Low | Uncertain | Uncertain benign Dominant, Heterozygous | 0.0320692 | This variant is also known as Kell or K1 or K (capitalized) in the Kell antigen system. K1-negative mothers (carrying no copies of this variant) carrying K1-positive fetuses (heterozygous or homozygous) are at risk for hemolytic disease of the newborn. About 9% of caucasians carry one or two copies of K1. | 1 |
35 | MLH1-I219V | Low | Uncertain | Uncertain benign Dominant, Heterozygous | 0.239822 | Computational evidence, functional assays, and case/control studies suggest this variant is probably benign. | 1 |
36 | LOXL1-R141L | Low | Uncertain | Uncertain benign Complex/Other, Heterozygous | 0.255899 | Associated with exfoliative glaucoma & syndrome (XFG & XFS) in various populations, but with contradicting results (protective in Caucasians, pathogenic in Japanese). Based on this it seems the variation itself -- although it affects protein structure -- is not itself causing disease. Instead it is likely associated with other nearby causal variants. As such, it is evaluated as benign by GET-Evidence (which focuses on reporting causal variants). See detailed variant report for disease risk associations. | 1 |
37 | RPGRIP1-A547S | Low | Uncertain | Uncertain benign Complex/Other, Heterozygous | 0.232202 | Probably benign. Implicated in causing autosomal recessive cone-rod dystrophy, but a later report found the same incidence in controls and concludes it is not causal. | 1 |
38 | GAA-D91N | Low | Uncertain | Uncertain benign Recessive, Carrier (Heterozygous) | 0.0237033 | This is a rare but non-pathogenic coding polymorphism in GAA that creates variant allozyme, known as GAA*2. | 1 |
39 | GALT-N314D | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0716676 | This variant has an allele frequency of ~8% and is ancestral to "Duarte" / "Duarte 2" and "Duarte 1"/"Los Angeles" galactosemia variants. This variant is evolutionarily ancestral, and in vitro studies fail to support an impact of this variant on enzyme activity. Carney et al. instead implicate a 4 base deletion on the 5' of the GALT gene as being causal and linked to this variant. Galactosemia is typically screened and detected in infants and causes early, severe but nonspecific symptoms (digestive problems, lethargy, failure to thrive). | 1 |
40 | PCSK9-G670E | Low | Uncertain | Uncertain benign Unknown, Homozygous | 0.888269 | This variant is likely benign. | 1 |
41 | PKP2-L366P | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.221231 | This variant is a benign polymorphism. | 1 |
42 | BRCA1-Q356R | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0462911 | One common variant associated this variant with an increased risk of breast cancer, but a more recent, larger study found no association. | 1 |
43 | APOB-Y1422C | Low | Uncertain | Uncertain benign Unknown, Homozygous | 0.999628 | This position is almost certainly an error in the HG18 reference sequence. | 1 |
44 | RP1-N985Y | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.348671 | Probably benign. One report linked this variant to high triglycerides, but a later paper found a nearby SNP with similar association and suggests that both findings are caused by linkage to an undiscovered causal variant. | 1 |
45 | SLC45A2-L374F | Low | Uncertain | Uncertain benign Unknown, Homozygous | 0.691764 | Pigmentation allele for non-black hair, and consequently, possible increased susceptibility to malignant melanoma. | 1 |
46 | TAS2R38-I296V | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.463376 | This variant is associated with "taster" status of PTC, along with 49P and 262A. Due to linkage disequilibrium, the independent effects of positions 296 and 262 is unclear. The presence of 49P confers taster status in a dominant fashion, but in the absence of 49P, the presence of 262A/296V is still positively associated with tasting PTC. | 1 |
47 | SPTA1-A970D | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0373134 | This variant, also called alpha-IIa, has been seen frequently in individuals with recessive Hereditary spherocytosis. This appears to be the result of linkage to alpha-LEPRA (a C>T substitution at position -99 of intron 30); A970D is later reported as functionally neutral. | 1 |
48 | TAS2R38-A49P | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.431121 | This variant is strongly associated with causing the "taster" phenotype of phenylthiocarbamine (PTC) in a dominant manner. | 1 |
Row number | Variant | Prioritization score | Allele freq | Num of articles | Zygosity and Prioritization Score Reasons | Sufficient |
---|
Exome coverage: 32861153 / 33212919 = 98.94%
Row number | Gene | Chromosome | Coverage | Missing | Length | Missing regions |
---|---|---|---|---|---|---|
1 | AGRN | 1 | 0.94819159335288 | 318 | 6138 | 955553-955621, 955628-955639, 955645-955683, 976213-976257, 981885-981886, 981978, 981982, 983599-983745, 986833-986834 |
2 | GABRD | 1 | 0.96026490066225 | 54 | 1359 | 1950863-1950883, 1950886-1950900, 1950907-1950912, 1950915-1950917, 1950919-1950927 |
3 | NPHP4 | 1 | 0.99813127773885 | 8 | 4281 | 6007248-6007255 |
4 | ESPN | 1 | 0.84639376218324 | 394 | 2565 | 6488301-6488336, 6488377-6488392, 6488426-6488432, 6500482-6500488, 6500709-6500744, 6500765-6500791, 6500829-6500868, 6501029-6501065, 6501097-6501103, 6505779, 6505795, 6505817, 6505844-6505861, 6505891, 6505900, 6505910, 6505917, 6508701-6508705, 6508727-6508766, 6508828-6508857, 6508882-6508928, 6511907-6511933, 6512127-6512133 |
5 | PLEKHG5 | 1 | 0.97804954531201 | 70 | 3189 | 6534093-6534101, 6534147, 6534214-6534220, 6534523-6534526, 6534556-6534562, 6534606-6534647 |
6 | KIF1B | 1 | 0.99642386598908 | 19 | 5313 | 10357009-10357027 |
7 | PEX14 | 1 | 0.99382716049383 | 7 | 1134 | 10684444-10684450 |
8 | TARDBP | 1 | 0.96144578313253 | 48 | 1245 | 11082322-11082362, 11082599-11082605 |
9 | CLCNKA | 1 | 0.99660852713178 | 7 | 2064 | 16354391-16354397 |
10 | CLCNKB | 1 | 0.99321705426357 | 14 | 2064 | 16373044-16373050, 16383399-16383405 |
11 | ATP13A2 | 1 | 0.9994355066328 | 2 | 3543 | 17313604, 17313607 |
12 | HSPG2 | 1 | 0.99400425015179 | 79 | 13176 | 22165450-22165465, 22263648-22263710 |
13 | WNT4 | 1 | 0.92708333333333 | 77 | 1056 | 22469339-22469415 |
14 | SEPN1 | 1 | 0.89028776978417 | 183 | 1668 | 26126722-26126904 |
15 | HPCA | 1 | 0.99828178694158 | 1 | 582 | 33359443 |
16 | ZMPSTE24 | 1 | 0.99929971988796 | 1 | 1428 | 40734099 |
17 | KCNQ4 | 1 | 0.99904214559387 | 2 | 2088 | 41284296, 41284309 |
18 | MPL | 1 | 0.99895178197065 | 2 | 1908 | 43815001-43815002 |
19 | POMGNT1 | 1 | 0.99848714069592 | 3 | 1983 | 46662499-46662501 |
20 | ORC1 | 1 | 0.99883990719258 | 3 | 2586 | 52859451-52859453 |
21 | DHCR24 | 1 | 0.99484203739523 | 8 | 1551 | 55352597-55352602, 55352612-55352613 |
22 | PCSK9 | 1 | 0.99230399230399 | 16 | 2079 | 55505549-55505555, 55505559-55505567 |
23 | LEPR | 1 | 0.99828473413379 | 6 | 3498 | 66083690-66083695 |
24 | RPL5 | 1 | 0.98769574944072 | 11 | 894 | 93307401-93307402, 93307405-93307410, 93307414-93307416 |
25 | DPYD | 1 | 0.98927875243665 | 33 | 3078 | 97847949-97847951, 97847972-97847996, 97848005-97848006, 97848011, 98060666, 98348832 |
26 | AGL | 1 | 0.9997825614264 | 1 | 4599 | 100377975 |
27 | DBT | 1 | 0.99240855762595 | 11 | 1449 | 100700992-100700999, 100706401-100706403 |
28 | COL11A1 | 1 | 0.95583654022357 | 241 | 5457 | 103364222-103364329, 103364497-103364509, 103364527-103364550, 103380332-103380340, 103388937, 103427767, 103427775, 103427781, 103427785-103427787, 103435775, 103435788-103435815, 103435822-103435828, 103462659-103462667, 103470180, 103471628, 103471843-103471871, 103484376-103484378, 103484404 |
29 | CASQ2 | 1 | 0.99916666666667 | 1 | 1200 | 116244025 |
30 | NOTCH2 | 1 | 0.98071736785329 | 143 | 7416 | 120539665-120539714, 120539742, 120539778-120539784, 120539913-120539919, 120539933-120539955, 120548025, 120548051, 120548055, 120548091-120548097, 120572544-120572575, 120572609-120572610, 120611999-120612009 |
31 | FLG | 1 | 0.95158378467093 | 590 | 12186 | 152276279-152276307, 152276383-152276389, 152276441-152276470, 152276487-152276493, 152276580-152276631, 152276656-152276674, 152276759-152276775, 152276889, 152276907, 152277011-152277058, 152277082-152277088, 152277714-152277720, 152277881-152277887, 152278044-152278052, 152278552-152278558, 152278685-152278692, 152278811-152278817, 152278856, 152279016-152279022, 152279524-152279530, 152279743, 152280347, 152280468-152280474, 152280556-152280576, 152280594-152280617, 152280643-152280661, 152280682-152280702, 152280864, 152280900, 152281225-152281231, 152281287-152281307, 152281520-152281537, 152281621-152281649, 152281690, 152281694, 152281711, 152281718, 152281748-152281749, 152281752, 152281758, 152281771, 152281872-152281878, 152281948, 152283427-152283433, 152284122-152284155, 152284205-152284248, 152284374-152284380, 152284854, 152284879, 152284885, 152284893, 152285134-152285140, 152285185-152285191, 152285227-152285233, 152285806-152285812 |
32 | PKLR | 1 | 0.99884057971014 | 2 | 1725 | 155269991, 155269995 |
33 | LMNA | 1 | 0.99823633156966 | 1 | 567 | 156105084 |
34 | LMNA | 1 | 0.99949874686717 | 1 | 1995 | 156105084 |
35 | NTRK1 | 1 | 0.99414470932664 | 14 | 2391 | 156830794-156830807 |
36 | TBX19 | 1 | 0.98144023756496 | 25 | 1347 | 168274313-168274337 |
37 | F5 | 1 | 0.98606741573034 | 93 | 6675 | 169497296-169497297, 169510269-169510296, 169510351-169510383, 169510502, 169510515, 169510524, 169510634-169510653, 169511618-169511624 |
38 | DARS2 | 1 | 0.99587203302374 | 8 | 1938 | 173814371-173814374, 173814380-173814383 |
39 | HMCN1 | 1 | 0.99934942039271 | 11 | 16908 | 186031696-186031703, 186094888, 186135347-186135348 |
40 | PDC | 1 | 0.95951417004049 | 30 | 741 | 186418541-186418556, 186418566-186418570, 186418574-186418577, 186418581, 186418586-186418588, 186418591 |
41 | CFH | 1 | 0.99675324675325 | 12 | 3696 | 196648816, 196648839, 196648845-196648847, 196658729-196658733, 196706714, 196706733 |
42 | CFHR1 | 1 | 0.99597180261833 | 4 | 993 | 196794663-196794666 |
43 | CFHR5 | 1 | 0.98771929824561 | 21 | 1710 | 196953128-196953145, 196953168, 196953252, 196967398 |
44 | ASPM | 1 | 0.99808318957255 | 20 | 10434 | 197069698-197069699, 197069702-197069711, 197093268-197093271, 197113087, 197113109, 197113148, 197113153 |
45 | CD46 | 1 | 0.99416666666667 | 7 | 1200 | 207930362-207930368 |
46 | USH2A | 1 | 0.99711704785701 | 45 | 15609 | 215916519-215916520, 215916524-215916527, 215916533-215916538, 215916552-215916559, 215916563-215916565, 215916569-215916570, 215916589, 215916606, 215916609-215916611, 215956131, 216363566-216363569, 216496887-216496888, 216496904, 216496908, 216496912-216496917 |
47 | GJC2 | 1 | 0.93106060606061 | 91 | 1320 | 228345758, 228345790, 228346053, 228346063, 228346066, 228346073, 228346076-228346143, 228346151-228346155, 228346162, 228346342-228346349, 228346402, 228346407, 228346430 |
48 | LYST | 1 | 0.99246010871471 | 86 | 11406 | 235875357-235875359, 235875373, 235875426-235875432, 235875446-235875497, 235897879, 235907281-235907287, 235907294, 235937260, 235944288-235944290, 235944302, 235950561-235950565, 235950569, 235950601, 235950627, 235956907 |
49 | RYR2 | 1 | 0.99543746645196 | 68 | 14904 | 237655162, 237655173-237655174, 237655194-237655195, 237821244-237821271, 237821273, 237821276-237821288, 237821304-237821316, 237824190-237824196, 237972209 |
50 | FH | 1 | 0.9849967384214 | 23 | 1533 | 241661162-241661175, 241661194-241661197, 241669372-241669373, 241669376-241669378 |
51 | NET1 | 10 | 0.99329983249581 | 12 | 1791 | 5497051-5497062 |
52 | GATA3 | 10 | 0.99925093632959 | 1 | 1335 | 8100743 |
53 | OPTN | 10 | 0.99942329873126 | 1 | 1734 | 13151245 |
54 | DCLRE1C | 10 | 0.999518999519 | 1 | 2079 | 14981868 |
55 | CUBN | 10 | 0.99981604120677 | 2 | 10872 | 17142049-17142050 |
56 | PTF1A | 10 | 0.98986828774063 | 10 | 987 | 23481918-23481924, 23481971-23481973 |
57 | MYO3A | 10 | 0.99505256648114 | 24 | 4851 | 26359074-26359089, 26359126-26359133 |
58 | PDSS1 | 10 | 0.98397435897436 | 20 | 1248 | 26994215, 26994225-26994230, 26994237-26994241, 26994255-26994257, 26994314-26994318 |
59 | RET | 10 | 0.97997010463378 | 67 | 3345 | 43572707-43572773 |
60 | CHAT | 10 | 0.93368936359591 | 149 | 2247 | 50822274-50822422 |
61 | PCDH15 | 10 | 0.99864153506538 | 8 | 5889 | 55719557, 55721516-55721517, 56138662-56138666 |
62 | PSAP | 10 | 0.98984126984127 | 16 | 1575 | 73579575-73579590 |
63 | BMPR1A | 10 | 0.99937460913071 | 1 | 1599 | 88683146 |
64 | GLUD1 | 10 | 0.99582587954681 | 7 | 1677 | 88836362-88836368 |
65 | PTEN | 10 | 0.99917491749175 | 1 | 1212 | 89720725 |
66 | LIPA | 10 | 0.99916666666667 | 1 | 1200 | 91007398 |
67 | PAX2 | 10 | 0.98768283294842 | 16 | 1299 | 102566307-102566322 |
68 | COL17A1 | 10 | 0.99933244325768 | 3 | 4494 | 105816811-105816813 |
69 | HTRA1 | 10 | 0.95356895356895 | 67 | 1443 | 124221188-124221189, 124221191-124221244, 124221250-124221254, 124221312-124221317 |
70 | OAT | 10 | 0.99848484848485 | 2 | 1320 | 126097385-126097386 |
71 | SLC25A22 | 11 | 0.99794238683128 | 2 | 972 | 792614-792615 |
72 | PNPLA2 | 11 | 0.99405940594059 | 9 | 1515 | 819719-819723, 819865-819868 |
73 | CTSD | 11 | 0.9862792574657 | 17 | 1239 | 1785051-1785056, 1785063-1785073 |
74 | IGF2 | 11 | 0.9985935302391 | 1 | 711 | 2154249 |
75 | CDKN1C | 11 | 0.90956887486856 | 86 | 951 | 2905948-2905967, 2905970, 2905973, 2905976-2905981, 2905984, 2906053-2906054, 2906067-2906069, 2906084, 2906089-2906126, 2906144, 2906149, 2906152-2906154, 2906206-2906209, 2906219-2906221, 2906418 |
76 | SBF2 | 11 | 0.99963963963964 | 2 | 5550 | 10013993, 10014005 |
77 | ABCC8 | 11 | 0.99515381373788 | 23 | 4746 | 17452427-17452449 |
78 | USH1C | 11 | 0.99 | 27 | 2700 | 17531177, 17531282, 17531288, 17531301-17531304, 17531307-17531312, 17531314-17531327 |
79 | ANO5 | 11 | 0.96243617797228 | 103 | 2742 | 22249052-22249061, 22271849, 22271859-22271862, 22276928, 22276982-22277068 |
80 | PDHX | 11 | 0.99402390438247 | 9 | 1506 | 34982008-34982013, 34982023, 34982038, 35013863 |
81 | SERPING1 | 11 | 0.99933466400532 | 1 | 1503 | 57365759 |
82 | BSCL2 | 11 | 0.99928005759539 | 1 | 1389 | 62472930 |
83 | SLC22A12 | 11 | 0.99578820697954 | 7 | 1662 | 64367266-64367268, 64367272-64367274, 64367280 |
84 | AIP | 11 | 0.97985901309164 | 20 | 993 | 67257559-67257578 |
85 | TCIRG1 | 11 | 0.99799438427597 | 5 | 2493 | 67810169, 67811346, 67811352-67811354 |
86 | LRP5 | 11 | 0.98886138613861 | 54 | 4848 | 68080209-68080255, 68080264-68080265, 68080267-68080271 |
87 | IGHMBP2 | 11 | 0.99195171026157 | 24 | 2982 | 68704532-68704555 |
88 | DHCR7 | 11 | 0.99299719887955 | 10 | 1428 | 71146573, 71146577, 71146580-71146584, 71146593-71146595 |
89 | MYO7A | 11 | 0.9998495788207 | 1 | 6648 | 76922295 |
90 | DYNC2H1 | 11 | 0.97837002703747 | 280 | 12945 | 102984286, 102984301, 102984311-102984328, 102984364, 102984420, 102987379, 102991523-102991531, 102991764-102991765, 102999696, 102999734, 103022899, 103024184, 103029449-103029494, 103029512-103029519, 103029527, 103029530-103029534, 103029537, 103036715, 103043821-103043825, 103043832-103043844, 103043883-103043889, 103043899-103043908, 103043969-103043971, 103049829, 103052522-103052527, 103052536-103052548, 103059226-103059245, 103059255, 103059262, 103059267-103059277, 103059283, 103059294-103059335, 103059339, 103062269, 103062341-103062343, 103062855-103062877, 103070105-103070107, 103082533, 103082537, 103082540-103082541, 103082545-103082547, 103093704, 103093707-103093709, 103093714, 103093734, 103093737, 103093748 |
91 | ATM | 11 | 0.98582488278268 | 130 | 9171 | 108098361, 108098367, 108098374, 108098524, 108126950-108127067, 108196135, 108196143-108196146, 108196160-108196161, 108196195 |
92 | DLAT | 11 | 0.98148148148148 | 36 | 1944 | 111899568-111899584, 111899588-111899589, 111910009-111910011, 111910015-111910028 |
93 | PTS | 11 | 0.9703196347032 | 13 | 438 | 112104226-112104238 |
94 | ROBO3 | 11 | 0.99903869262197 | 4 | 4161 | 124745539-124745542 |
95 | CACNA1C | 12 | 0.9961896052431 | 25 | 6561 | 2622069-2622086, 2794934-2794940 |
96 | VWF | 12 | 0.9818763326226 | 153 | 8442 | 6103101-6103111, 6122711-6122718, 6125338-6125344, 6127532-6127538, 6127637-6127661, 6127865-6127871, 6128064-6128070, 6128544-6128550, 6128784-6128790, 6131925-6131932, 6131955-6131982, 6132003-6132033 |
97 | TPI1 | 12 | 0.99066666666667 | 7 | 750 | 6979461-6979467 |
98 | ATN1 | 12 | 0.98516652672824 | 53 | 3573 | 7045597-7045623, 7045902, 7045905-7045929 |
99 | GYS2 | 12 | 0.98106060606061 | 40 | 2112 | 21712025-21712064 |
100 | ABCC9 | 12 | 0.99376344086022 | 29 | 4650 | 22025615, 22063766-22063771, 22063774-22063783, 22063793-22063795, 22068648-22068656 |
101 | KRAS | 12 | 0.99824561403509 | 1 | 570 | 25378611 |
102 | DNM1L | 12 | 0.99457259158752 | 12 | 2211 | 32890799-32890808, 32890832-32890833 |
103 | KIF21A | 12 | 0.99699157641396 | 15 | 4986 | 39709042, 39745580, 39745584-39745596 |
104 | LRRK2 | 12 | 0.99050632911392 | 72 | 7584 | 40645046, 40688677-40688698, 40702987, 40761452, 40761458, 40761461-40761469, 40761489, 40761493-40761517, 40761524-40761529, 40761547, 40761554-40761557 |
105 | COL2A1 | 12 | 0.99977598566308 | 1 | 4464 | 48398080 |
106 | MLL2 | 12 | 0.99951847839172 | 8 | 16614 | 49426779, 49427258, 49427276, 49427287, 49434252-49434255 |
107 | KRT81 | 12 | 0.99077733860343 | 14 | 1518 | 52682999-52683005, 52684950-52684956 |
108 | KRT86 | 12 | 0.98631074606434 | 20 | 1461 | 52695997, 52697952, 52699030-52699047 |
109 | KRT83 | 12 | 0.99932523616734 | 1 | 1482 | 52710279 |
110 | KRT6B | 12 | 0.98761061946903 | 21 | 1695 | 52843632-52843637, 52845432-52845438, 52845574, 52845798-52845804 |
111 | KRT6C | 12 | 0.9646017699115 | 60 | 1695 | 52865295-52865300, 52867091-52867129, 52867230-52867236, 52867456-52867463 |
112 | KRT6A | 12 | 0.9787610619469 | 36 | 1695 | 52882219-52882225, 52882264-52882270, 52884735, 52886542-52886548, 52886681-52886687, 52886908-52886914 |
113 | KRT5 | 12 | 0.99717992103779 | 5 | 1773 | 52908743-52908746, 52908895 |
114 | KRT2 | 12 | 0.99791666666667 | 4 | 1920 | 53045602-53045605 |
115 | GNS | 12 | 0.99939722724533 | 1 | 1659 | 65141665 |
116 | LEMD3 | 12 | 0.99707602339181 | 8 | 2736 | 65612339, 65612389-65612395 |
117 | CEP290 | 12 | 0.97432795698925 | 191 | 7440 | 88443081, 88454611-88454615, 88462316-88462356, 88462369, 88465672-88465682, 88472952-88472957, 88472986-88473006, 88478514, 88479856, 88490727-88490755, 88496750, 88505488-88505490, 88505505, 88505565, 88505568, 88505604-88505610, 88513893-88513899, 88513985, 88513993-88513996, 88514052, 88522723-88522745, 88522765, 88522768-88522775, 88522805, 88523594-88523607 |
118 | TMPO | 12 | 0.99952038369305 | 1 | 2085 | 98927722 |
119 | PAH | 12 | 0.99705665930831 | 4 | 1359 | 103288593-103288596 |
120 | ATXN2 | 12 | 0.97919837645865 | 82 | 3942 | 112036743, 112036748, 112036754-112036803, 112036806-112036816, 112036821, 112036892-112036901, 112036910, 112036926-112036931, 112036934 |
121 | ATP6V0A2 | 12 | 0.99922209257098 | 2 | 2571 | 124242474-124242475 |
122 | PUS1 | 12 | 0.99922118380062 | 1 | 1284 | 132426010 |
123 | BRCA2 | 13 | 0.99912255045335 | 9 | 10257 | 32906504-32906511, 32920970 |
124 | SUCLA2 | 13 | 0.9992816091954 | 1 | 1392 | 48547467 |
125 | RB1 | 13 | 0.99138858988159 | 24 | 2787 | 48947545-48947549, 48947576-48947581, 48947593-48947598, 48947605-48947606, 48947609-48947613 |
126 | RNASEH2B | 13 | 0.99680511182109 | 3 | 939 | 51522196-51522198 |
127 | EDNRB | 13 | 0.99774266365688 | 3 | 1329 | 78474709-78474711 |
128 | SLITRK1 | 13 | 0.99952175992348 | 1 | 2091 | 84453796 |
129 | ZIC2 | 13 | 0.9349593495935 | 104 | 1599 | 100634394-100634396, 100634399, 100635004-100635040, 100637714, 100637724, 100637728-100637729, 100637745-100637749, 100637810, 100637816-100637868 |
130 | PCCA | 13 | 0.99908550525834 | 2 | 2187 | 100925511, 100925524 |
131 | ERCC5 | 13 | 0.99858457183298 | 6 | 4239 | 103468798-103468800, 103468811, 103468827-103468828 |
132 | F10 | 13 | 0.99045671438309 | 14 | 1467 | 113777177-113777190 |
133 | GRK1 | 13 | 0.98817966903073 | 20 | 1692 | 114321808-114321827 |
134 | TEP1 | 14 | 0.99936580416032 | 5 | 7884 | 20859859-20859863 |
135 | SLC7A7 | 14 | 0.99934895833333 | 1 | 1536 | 23282124 |
136 | PABPN1 | 14 | 0.84581976112921 | 142 | 921 | 23790686, 23790694-23790702, 23790719, 23790724-23790739, 23790748, 23790751-23790756, 23790794, 23790797, 23790846-23790847, 23790854-23790870, 23790874-23790879, 23790903-23790951, 23790957-23790966, 23790984-23790992, 23791005, 23793479-23793490 |
137 | MYH6 | 14 | 0.99879725085911 | 7 | 5820 | 23855185-23855191 |
138 | FOXG1 | 14 | 0.8047619047619 | 287 | 1470 | 29236674-29236960 |
139 | FANCM | 14 | 0.99023914104441 | 60 | 6147 | 45623911, 45623933-45623939, 45623942, 45623945, 45623956-45623961, 45623974-45623977, 45623981-45623982, 45623985-45624005, 45624013-45624018, 45650638, 45653062, 45654493, 45654500, 45667851-45667854, 45667882-45667884 |
140 | SYNE2 | 14 | 0.99966222736923 | 7 | 20724 | 64447711, 64447762-64447765, 64447775-64447776 |
141 | ZFYVE26 | 14 | 0.9990813648294 | 7 | 7620 | 68244313-68244319 |
142 | MLH3 | 14 | 0.99977074736359 | 1 | 4362 | 75506714 |
143 | GALC | 14 | 0.99951409135083 | 1 | 2058 | 88448550 |
144 | SPATA7 | 14 | 0.98055555555556 | 35 | 1800 | 88859806-88859811, 88859821, 88883131-88883158 |
145 | TTC8 | 14 | 0.99935400516796 | 1 | 1548 | 89305821 |
146 | ATXN3 | 14 | 0.98434622467772 | 17 | 1086 | 92537347, 92537353-92537354, 92537364-92537367, 92537381, 92559631-92559639 |
147 | VRK1 | 14 | 0.94626364399664 | 64 | 1191 | 97299820-97299827, 97304099-97304154 |
148 | AMN | 14 | 0.99779735682819 | 3 | 1362 | 103396614-103396615, 103396635 |
149 | INF2 | 14 | 0.92453333333333 | 283 | 3750 | 105173762-105173778, 105173859-105174124 |
150 | NIPA1 | 15 | 0.82020202020202 | 178 | 990 | 23086234-23086411 |
151 | UBE3A | 15 | 0.99162861491629 | 22 | 2628 | 25601971, 25616251-25616257, 25616620-25616626, 25616679-25616685 |
152 | SLC12A6 | 15 | 0.99160150593687 | 29 | 3453 | 34549843-34549859, 34549936-34549947 |
153 | SPRED1 | 15 | 0.99850187265918 | 2 | 1335 | 38614554, 38614562 |
154 | CHST14 | 15 | 0.98320070733864 | 19 | 1131 | 40763508, 40763521-40763530, 40763574-40763575, 40763781-40763786 |
155 | CDAN1 | 15 | 0.99185667752443 | 30 | 3684 | 43018339-43018358, 43019937-43019940, 43026524-43026529 |
156 | TTBK2 | 15 | 0.99705488621151 | 11 | 3735 | 43067846-43067849, 43067857-43067862, 43164863 |
157 | STRC | 15 | 0.98348348348348 | 88 | 5328 | 43896947-43896959, 43897544-43897560, 43906457-43906463, 43910863-43910913 |
158 | SPG11 | 15 | 0.99959083469722 | 3 | 7332 | 44888995, 44912473, 44912492 |
159 | FBN1 | 15 | 0.99930362116992 | 6 | 8616 | 48737592, 48737596, 48737646, 48737649, 48766788, 48766791 |
160 | SCG3 | 15 | 0.99786780383795 | 3 | 1407 | 51974714-51974716 |
161 | HCN4 | 15 | 0.99584717607973 | 15 | 3612 | 73614899, 73615047-73615059, 73660593 |
162 | ETFA | 15 | 0.99900199600798 | 1 | 1002 | 76566821 |
163 | POLG | 15 | 0.99516129032258 | 18 | 3720 | 89876826-89876830, 89876837-89876849 |
164 | MESP2 | 15 | 0.98994974874372 | 12 | 1194 | 90320135-90320146 |
165 | BLM | 15 | 0.9776680771039 | 95 | 4254 | 91310188-91310193, 91310215-91310217, 91326097, 91326106-91326107, 91337413-91337427, 91337492-91337547, 91337573-91337584 |
166 | HBZ | 16 | 0.98135198135198 | 8 | 429 | 203966, 204271-204277 |
167 | CLCN7 | 16 | 0.99958643507031 | 1 | 2418 | 1524911 |
168 | GFER | 16 | 0.99514563106796 | 3 | 618 | 2034224, 2034331, 2034348 |
169 | PKD1 | 16 | 0.9634448574969 | 472 | 12912 | 2141157-2141175, 2147190, 2147193-2147196, 2147902-2147908, 2147942-2147953, 2149883-2149889, 2149962-2149968, 2150404-2150410, 2150456-2150484, 2150515-2150521, 2153684-2153685, 2153688, 2154595-2154643, 2155906-2155912, 2155981-2156024, 2156399-2156411, 2156442-2156448, 2156494-2156526, 2159144-2159150, 2159311-2159319, 2159403-2159409, 2160717-2160725, 2160769-2160775, 2163180-2163186, 2164171-2164178, 2164720-2164735, 2164808, 2164919-2164925, 2165387-2165394, 2166834-2166845, 2166976-2166983, 2167041-2167054, 2167871-2167877, 2167959-2168008, 2168056-2168062, 2185569, 2185592, 2185595, 2185662-2185690 |
170 | CREBBP | 16 | 0.99713467048711 | 21 | 7329 | 3778409, 3778428-3778430, 3778434-3778448, 3778453, 3779472 |
171 | ALG1 | 16 | 0.96559139784946 | 48 | 1395 | 5128840-5128879, 5134875-5134882 |
172 | ABCC6 | 16 | 0.99844858156028 | 7 | 4512 | 16315540-16315546 |
173 | OTOA | 16 | 0.99795321637427 | 7 | 3420 | 21742176-21742182 |
174 | CLN3 | 16 | 0.99392558845862 | 8 | 1317 | 28497700-28497707 |
175 | PHKG2 | 16 | 0.97215397215397 | 34 | 1221 | 30760149-30760155, 30760165-30760168, 30760186-30760192, 30760198-30760213 |
176 | FUS | 16 | 0.9898798228969 | 16 | 1581 | 31195690-31195698, 31195709-31195714, 31196408 |
177 | SLC5A2 | 16 | 0.99702823179792 | 6 | 2019 | 31500057, 31500060, 31500065-31500068 |
178 | PHKB | 16 | 0.99969530773918 | 1 | 3282 | 47727400 |
179 | CYLD | 16 | 0.99720475192173 | 8 | 2862 | 50811754-50811761 |
180 | SALL1 | 16 | 0.9959748427673 | 16 | 3975 | 51175661-51175676 |
181 | RPGRIP1L | 16 | 0.99772036474164 | 9 | 3948 | 53672249-53672253, 53672259, 53672310-53672312 |
182 | MMP2 | 16 | 0.99798285426122 | 4 | 1983 | 55513453-55513456 |
183 | HSD11B2 | 16 | 0.95484400656814 | 55 | 1218 | 67465197, 67465204, 67465206-67465212, 67465216, 67465220-67465232, 67465235-67465240, 67465262-67465272, 67465278-67465292 |
184 | LCAT | 16 | 0.99697656840514 | 4 | 1323 | 67973976-67973979 |
185 | CDH1 | 16 | 0.99962249905625 | 1 | 2649 | 68849480 |
186 | MLYCD | 16 | 0.96491228070175 | 52 | 1482 | 83932808-83932810, 83932813-83932818, 83932834, 83932842-83932847, 83932850-83932851, 83932856, 83932858-83932873, 83932879-83932894, 83932994 |
187 | FOXF1 | 16 | 0.99561403508772 | 5 | 1140 | 86544211-86544215 |
188 | JPH3 | 16 | 0.99866488651535 | 3 | 2247 | 87723726-87723728 |
189 | SPG7 | 16 | 0.99832495812395 | 4 | 2388 | 89579413-89579416 |
190 | ASPA | 17 | 0.98726114649682 | 12 | 942 | 3402273-3402284 |
191 | TP53 | 17 | 0.98984771573604 | 12 | 1182 | 7579429-7579432, 7579437-7579444 |
192 | HES7 | 17 | 0.99557522123894 | 3 | 678 | 8025669, 8025677-8025678 |
193 | MYH3 | 17 | 0.99965653443242 | 2 | 5823 | 10534935-10534936 |
194 | ELAC2 | 17 | 0.99637243047158 | 9 | 2481 | 12896189-12896197 |
195 | COX10 | 17 | 0.98948948948949 | 14 | 1332 | 14095306-14095312, 14095345-14095351 |
196 | RAI1 | 17 | 0.99405698304492 | 34 | 5721 | 17697094-17697108, 17697114-17697123, 17698203-17698207, 17699993-17699995, 17700952 |
197 | MYO15A | 17 | 0.99395827433211 | 64 | 10593 | 18024010-18024016, 18024030-18024050, 18024062-18024064, 18024238-18024240, 18024266, 18024332-18024335, 18024339-18024340, 18024416, 18046080-18046086, 18049333-18049339, 18057102-18057103, 18057106-18057110, 18057117 |
198 | UNC119 | 17 | 0.97510373443983 | 18 | 723 | 26879415, 26879418-26879424, 26879435-26879444 |
199 | NF1 | 17 | 0.99518779342723 | 41 | 8520 | 29422328-29422341, 29422362, 29422364, 29422370-29422371, 29422374-29422378, 29557371-29557377, 29580009, 29665761, 29679275-29679279, 29679288-29679291 |
200 | TCAP | 17 | 0.99801587301587 | 1 | 504 | 37822165 |
201 | KRT10 | 17 | 0.98005698005698 | 35 | 1755 | 38975097-38975099, 38975106-38975121, 38975129-38975130, 38975133, 38975136-38975137, 38975148-38975149, 38975287, 38975300-38975307 |
202 | KRT14 | 17 | 0.99436222692037 | 8 | 1419 | 39741304-39741309, 39742832, 39742856 |
203 | KRT16 | 17 | 0.9648382559775 | 50 | 1422 | 39766265-39766281, 39768490-39768496, 39768721-39768746 |
204 | KRT17 | 17 | 0.96843725943033 | 41 | 1299 | 39780378-39780384, 39780414-39780440, 39780516-39780522 |
205 | STAT5B | 17 | 0.99365482233503 | 15 | 2364 | 40369477, 40371359-40371371, 40384110 |
206 | NAGLU | 17 | 0.99775985663082 | 5 | 2232 | 40688653-40688657 |
207 | WNK4 | 17 | 0.9989281886388 | 4 | 3732 | 40947095-40947098 |
208 | GRN | 17 | 0.9983164983165 | 3 | 1782 | 42428787-42428789 |
209 | COL1A1 | 17 | 0.99977246871445 | 1 | 4395 | 48265939 |
210 | TRIM37 | 17 | 0.99309153713299 | 20 | 2895 | 57105892, 57105915-57105927, 57105931, 57158528-57158529, 57158546-57158548 |
211 | AP1S2 | 17 | 0.98076923076923 | 12 | 624 | 58180050-58180059, 58180062, 58180079 |
212 | BRIP1 | 17 | 0.99866666666667 | 5 | 3750 | 59821928, 59821939-59821941, 59934442 |
213 | ACE | 17 | 0.99897985207855 | 4 | 3921 | 61554483-61554484, 61554488, 61554523 |
214 | POLG2 | 17 | 0.99519890260631 | 7 | 1458 | 62476498-62476504 |
215 | AXIN2 | 17 | 0.989336492891 | 27 | 2532 | 63533729-63533755 |
216 | SEPT9 | 17 | 0.92277115275412 | 136 | 1761 | 75494605-75494740 |
217 | SGSH | 17 | 0.99337309476474 | 10 | 1509 | 78194051-78194052, 78194081-78194087, 78194091 |
218 | NDUFV2 | 18 | 0.99866666666667 | 1 | 750 | 9124916 |
219 | LAMA3 | 18 | 0.99690061987602 | 31 | 10002 | 21483927-21483957 |
220 | DSC3 | 18 | 0.9933110367893 | 18 | 2691 | 28574249-28574251, 28581584-28581594, 28586927-28586930 |
221 | TTR | 18 | 0.97972972972973 | 9 | 444 | 29178579-29178587 |
222 | LOXHD1 | 18 | 0.99171187462327 | 55 | 6636 | 44104523-44104526, 44126863-44126866, 44126874-44126916, 44126959, 44126993, 44127001-44127002 |
223 | MYO5B | 18 | 0.99332972778078 | 37 | 5547 | 47352944-47352980 |
224 | SMAD4 | 18 | 0.98854731766124 | 19 | 1659 | 48593407, 48593422, 48593470, 48593489, 48603039-48603046, 48603072-48603078 |
225 | ATP8B1 | 18 | 0.99574014909478 | 16 | 3756 | 55398954-55398969 |
226 | LMAN1 | 18 | 0.99543378995434 | 7 | 1533 | 57000405, 57000408-57000409, 57000412-57000414, 57000429 |
227 | TNFRSF11A | 18 | 0.9773095623987 | 42 | 1851 | 59992598-59992639 |
228 | CTDP1 | 18 | 0.999306999307 | 2 | 2886 | 77440035-77440036 |
229 | ELANE | 19 | 0.87562189054726 | 100 | 804 | 853262-853361 |
230 | KISS1R | 19 | 0.96491228070175 | 42 | 1197 | 920325, 920333, 920337-920351, 920368-920371, 920374-920390, 920402, 920408, 920411-920412 |
231 | MAP2K2 | 19 | 0.92352452202826 | 92 | 1203 | 4123781-4123872 |
232 | PNPLA6 | 19 | 0.99598393574297 | 16 | 3984 | 7619506-7619521 |
233 | TYK2 | 19 | 0.99971941638608 | 1 | 3564 | 10469855 |
234 | PRKCSH | 19 | 0.99621928166352 | 6 | 1587 | 11558341-11558346 |
235 | CACNA1A | 19 | 0.99441563621859 | 42 | 7521 | 13318565, 13318673-13318701, 13318706-13318712, 13318777-13318778, 13318791, 13318803, 13319693 |
236 | NOTCH3 | 19 | 0.9886592018375 | 79 | 6966 | 15281296-15281330, 15311620-15311626, 15311631-15311648, 15311657-15311658, 15311683-15311699 |
237 | JAK3 | 19 | 0.99555555555556 | 15 | 3375 | 17940923-17940932, 17940935-17940937, 17940954, 17940982 |
238 | COMP | 19 | 0.9934036939314 | 15 | 2274 | 18896483-18896490, 18900762, 18900811-18900815, 18900818 |
239 | CEBPA | 19 | 0.95543175487465 | 48 | 1077 | 33792751, 33792757-33792760, 33792915, 33792919, 33793015, 33793024, 33793030-33793031, 33793166, 33793171-33793172, 33793201-33793204, 33793209-33793238 |
240 | SCN1B | 19 | 0.95043370508055 | 40 | 807 | 35521725-35521764 |
241 | MAG | 19 | 0.99946836788942 | 1 | 1881 | 35791141 |
242 | NPHS1 | 19 | 0.99892646269458 | 4 | 3726 | 36336585-36336588 |
243 | RYR1 | 19 | 0.99708936958391 | 44 | 15117 | 38931401, 38931406-38931410, 38931437-38931454, 38942479, 38951173-38951176, 38998420-38998426, 39055783, 39055876-39055879, 39055897-39055899 |
244 | PRX | 19 | 0.97674418604651 | 102 | 4386 | 40901314-40901328, 40909630-40909652, 40909700-40909737, 40909744-40909769 |
245 | BCAM | 19 | 0.99629040805511 | 7 | 1887 | 45315616-45315622 |
246 | ERCC2 | 19 | 0.99824791940429 | 4 | 2283 | 45867090-45867092, 45867095 |
247 | SIX5 | 19 | 0.99954954954955 | 1 | 2220 | 46272077 |
248 | DMPK | 19 | 0.94126984126984 | 111 | 1890 | 46285493-46285517, 46285525-46285610 |
249 | CRX | 19 | 0.99555555555556 | 4 | 900 | 48342631-48342633, 48342637 |
250 | DBP | 19 | 0.98466257668712 | 15 | 978 | 49138846-49138855, 49138862-49138863, 49138867-49138869 |
251 | MED25 | 19 | 0.9982174688057 | 4 | 2244 | 50333781, 50339526, 50339529-50339530 |
252 | MYH14 | 19 | 0.99754540991654 | 15 | 6111 | 50770214-50770218, 50770221-50770230 |
253 | KCNC3 | 19 | 0.85883905013193 | 321 | 2274 | 50823503-50823592, 50826450, 50826458-50826459, 50831496-50831499, 50831523-50831530, 50831543, 50831551, 50831693-50831694, 50831864, 50831873-50831876, 50831885, 50831901-50831903, 50831907, 50831912-50831914, 50831922, 50832142-50832339 |
254 | PRKCG | 19 | 0.98949379178606 | 22 | 2094 | 54392928, 54393210-54393212, 54393225, 54393230, 54393239-54393247, 54393263, 54393266, 54401315-54401319 |
255 | NLRP7 | 19 | 0.99775208734746 | 7 | 3114 | 55451167-55451173 |
256 | KLF11 | 2 | 0.99025341130604 | 15 | 1539 | 10183871-10183885 |
257 | LPIN1 | 2 | 0.99962588851478 | 1 | 2673 | 11955330 |
258 | MYCN | 2 | 0.99928315412186 | 1 | 1395 | 16082897 |
259 | APOB | 2 | 0.99810108092317 | 26 | 13692 | 21266752-21266763, 21266789-21266802 |
260 | OTOF | 2 | 0.98248248248248 | 105 | 5994 | 26699759-26699826, 26699836-26699855, 26699858, 26699878-26699882, 26699894, 26699909, 26700120-26700123, 26700137-26700141 |
261 | C2orf71 | 2 | 0.99974140160331 | 1 | 3867 | 29294050 |
262 | ALK | 2 | 0.9967098498869 | 16 | 4863 | 29451780-29451795 |
263 | SPAST | 2 | 0.91031874662345 | 166 | 1851 | 32289002-32289035, 32289080-32289093, 32289102, 32289116, 32289134-32289193, 32289200-32289209, 32289215-32289257, 32340781, 32340830, 32340867 |
264 | SOS1 | 2 | 0.99250374812594 | 30 | 4002 | 39224093-39224104, 39224439, 39241043-39241049, 39283892-39283901 |
265 | ABCG5 | 2 | 0.99948875255624 | 1 | 1956 | 44058976 |
266 | LRPPRC | 2 | 0.99976105137395 | 1 | 4185 | 44161390 |
267 | MSH2 | 2 | 0.99465240641711 | 15 | 2805 | 47639642, 47709921-47709934 |
268 | MSH6 | 2 | 0.99951016409503 | 2 | 4083 | 48010475, 48010480 |
269 | LHCGR | 2 | 0.99333333333333 | 14 | 2100 | 48982732, 48982754-48982760, 48982764, 48982773-48982777 |
270 | EFEMP1 | 2 | 0.99460188933873 | 8 | 1482 | 56102081-56102085, 56102137, 56102184-56102185 |
271 | MCEE | 2 | 0.99811676082863 | 1 | 531 | 71337190 |
272 | ALMS1 | 2 | 0.9969609724888 | 38 | 12504 | 73612997-73613011, 73613020-73613026, 73613031-73613040, 73613046-73613048, 73613053, 73613154, 73828342 |
273 | SLC4A5 | 2 | 0.99970708845929 | 1 | 3414 | 74479404 |
274 | DCTN1 | 2 | 0.99843627834246 | 6 | 3837 | 74590485, 74592662-74592666 |
275 | MOGS | 2 | 0.99880668257757 | 3 | 2514 | 74692361-74692363 |
276 | HTRA2 | 2 | 0.99854756717502 | 2 | 1377 | 74757446-74757447 |
277 | REEP1 | 2 | 0.98844884488449 | 7 | 606 | 86564627-86564633 |
278 | EIF2AK3 | 2 | 0.99761265293942 | 8 | 3351 | 88887534-88887536, 88887539-88887540, 88926730-88926732 |
279 | RANBP2 | 2 | 0.97240310077519 | 267 | 9675 | 109352023-109352039, 109357110-109357116, 109363178-109363217, 109365376-109365379, 109367751-109367775, 109367868-109367874, 109368074-109368110, 109369546-109369595, 109371399, 109371421, 109371656-109371662, 109378576, 109378580, 109378584, 109383110, 109383268-109383274, 109383579-109383586, 109383761-109383798, 109384004-109384010, 109384782-109384788 |
280 | MERTK | 2 | 0.996 | 12 | 3000 | 112656327-112656336, 112656339, 112656343 |
281 | GLI2 | 2 | 0.99852972064692 | 7 | 4761 | 121555025, 121746161-121746165, 121746197 |
282 | PROC | 2 | 0.998556998557 | 2 | 1386 | 128180698, 128180701 |
283 | CFC1 | 2 | 0.98511904761905 | 10 | 672 | 131279664-131279671, 131279674, 131285387 |
284 | RAB3GAP1 | 2 | 0.99728445349627 | 8 | 2946 | 135848568, 135848626-135848627, 135888122-135888126 |
285 | MCM6 | 2 | 0.99959448499594 | 1 | 2466 | 136616953 |
286 | NEB | 2 | 0.99429258035446 | 114 | 19974 | 152417801, 152432719-152432724, 152432730-152432731, 152432738-152432745, 152432748, 152432752, 152432755-152432761, 152432776-152432836, 152482059, 152482092-152482113, 152515616-152515619 |
287 | SCN2A | 2 | 0.99019607843137 | 59 | 6018 | 166171986-166171989, 166171995-166171996, 166171999-166172005, 166172008, 166172013-166172015, 166234107-166234148 |
288 | SCN1A | 2 | 0.9959979989995 | 24 | 5997 | 166859087-166859096, 166905428-166905441 |
289 | SCN9A | 2 | 0.99865183687226 | 8 | 5934 | 167060872-167060877, 167083097, 167083167 |
290 | HOXD13 | 2 | 0.99806201550388 | 2 | 1032 | 176957798, 176957801 |
291 | AGPS | 2 | 0.9453717754173 | 108 | 1977 | 178285031, 178285056, 178285066, 178326621, 178333155, 178333249, 178346787-178346826, 178346856-178346914, 178362437, 178362467-178362468 |
292 | PRKRA | 2 | 0.99893842887473 | 1 | 942 | 179312264 |
293 | TTN | 2 | 0.99932168222807 | 68 | 100248 | 179399019, 179419434-179419438, 179445109-179445120, 179523794-179523802, 179538365-179538392, 179543145, 179543155, 179543166, 179543173, 179543217-179543220, 179583894, 179598579, 179665141-179665143 |
294 | COL3A1 | 2 | 0.98023176550784 | 87 | 4401 | 189850452-189850455, 189854122-189854154, 189856931-189856949, 189871663-189871684, 189871694-189871698, 189872621-189872624 |
295 | PMS1 | 2 | 0.97284744551626 | 76 | 2799 | 190718704-190718741, 190718749-190718763, 190718787-190718794, 190718805-190718808, 190719034, 190728699-190728708 |
296 | STAT1 | 2 | 0.98934753661784 | 24 | 2253 | 191859894-191859913, 191874664-191874667 |
297 | ALS2 | 2 | 0.99979895456373 | 1 | 4974 | 202626387 |
298 | ABCA12 | 2 | 0.99807395993837 | 15 | 7788 | 215797410-215797420, 215809783-215809786 |
299 | OBSL1 | 2 | 0.98523985239852 | 84 | 5691 | 220416269, 220417312-220417316, 220435665-220435708, 220435730-220435735, 220435739-220435766 |
300 | COL4A4 | 2 | 0.99782780410742 | 11 | 5064 | 227942709-227942719 |
301 | UGT1A1 | 2 | 0.99750312109863 | 4 | 1602 | 234668951-234668954 |
302 | COL6A3 | 2 | 0.99989511222991 | 1 | 9534 | 238244890 |
303 | C20orf54 | 20 | 0.99645390070922 | 5 | 1410 | 744370-744374 |
304 | AVP | 20 | 0.8969696969697 | 51 | 495 | 3063334-3063340, 3063643-3063651, 3063774-3063781, 3063787-3063813 |
305 | THBD | 20 | 0.99768518518519 | 4 | 1728 | 23028893-23028896 |
306 | SNTA1 | 20 | 0.99209486166008 | 12 | 1518 | 32031335, 32031376-32031381, 32031384-32031388 |
307 | GDF5 | 20 | 0.99203187250996 | 12 | 1506 | 34022402-34022413 |
308 | CTSA | 20 | 0.98663994655979 | 20 | 1497 | 44520220-44520226, 44520233-44520245 |
309 | CHRNA4 | 20 | 0.99575371549894 | 8 | 1884 | 61992476-61992481, 61992487, 61992490 |
310 | KCNQ2 | 20 | 0.99923634975181 | 2 | 2619 | 62103634, 62103637 |
311 | SOX18 | 20 | 0.68744588744589 | 361 | 1155 | 62680203-62680205, 62680512-62680869 |
312 | IFNGR2 | 21 | 0.94575936883629 | 55 | 1014 | 34775850-34775852, 34775860-34775888, 34775893-34775913, 34775921-34775922 |
313 | AIRE | 21 | 0.97008547008547 | 49 | 1638 | 45712996-45713044 |
314 | ITGB2 | 21 | 0.9995670995671 | 1 | 2310 | 46308669 |
315 | COL6A1 | 21 | 0.98931000971817 | 33 | 3087 | 47401784-47401812, 47407552-47407555 |
316 | COL6A2 | 21 | 0.99967320261438 | 1 | 3060 | 47531459 |
317 | PCNT | 21 | 0.99960043951653 | 4 | 10011 | 47855871-47855874 |
318 | PRODH | 22 | 0.99556295063783 | 8 | 1803 | 18905964, 18923541, 18923547-18923552 |
319 | GP1BB | 22 | 0.99033816425121 | 6 | 621 | 19711859-19711861, 19711868-19711870 |
320 | TBX1 | 22 | 0.87231182795699 | 190 | 1488 | 19748428-19748599, 19748669-19748670, 19748673, 19753449-19753452, 19753511-19753514, 19753971, 19753993, 19753999-19754001, 19754007-19754008 |
321 | CHEK2 | 22 | 0.9557069846678 | 78 | 1761 | 29083906-29083917, 29083946-29083965, 29085165-29085171, 29091115-29091145, 29091837-29091844 |
322 | MYH9 | 22 | 0.99711031786503 | 17 | 5883 | 36688075-36688080, 36688090-36688100 |
323 | TRIOBP | 22 | 0.95153564384334 | 344 | 7098 | 38119742-38119774, 38119798-38119835, 38119856-38119905, 38119976-38119999, 38120037-38120052, 38120150-38120156, 38120193-38120199, 38120297-38120306, 38120394-38120440, 38120447-38120486, 38120521-38120545, 38120611-38120629, 38120683-38120710 |
324 | EP300 | 22 | 0.99944789510007 | 4 | 7245 | 41546113, 41546118-41546120 |
325 | TNFRSF13C | 22 | 0.98018018018018 | 11 | 555 | 42322221-42322230, 42322246 |
326 | CYB5R3 | 22 | 0.98233995584989 | 16 | 906 | 43045306-43045321 |
327 | ALG12 | 22 | 0.99931833674165 | 1 | 1467 | 50297999 |
328 | MLC1 | 22 | 0.99647266313933 | 4 | 1134 | 50502593-50502595, 50502608 |
329 | TYMP | 22 | 0.98688750862664 | 19 | 1449 | 50964687-50964693, 50964705-50964711, 50964716, 50964720-50964723 |
330 | SHANK3 | 22 | 0.81083142639207 | 992 | 5244 | 51113070-51113132, 51135955-51136143, 51158726-51159212, 51159447-51159451, 51159454-51159455, 51159461-51159472, 51159476, 51169169, 51169200, 51169349-51169355, 51169438-51169460, 51169480-51169580, 51169598-51169612, 51169629-51169665, 51169675-51169722 |
331 | FANCD2 | 3 | 0.97667572463768 | 103 | 4416 | 10085168-10085205, 10085533-10085539, 10088296-10088332, 10091150-10091156, 10107165-10107171, 10114941-10114947 |
332 | COLQ | 3 | 0.99853801169591 | 2 | 1368 | 15499812-15499813 |
333 | CRTAP | 3 | 0.99004975124378 | 12 | 1206 | 33155595, 33155600-33155605, 33155630-33155634 |
334 | ABHD5 | 3 | 0.99904761904762 | 1 | 1050 | 43756465 |
335 | TREX1 | 3 | 0.9972972972973 | 3 | 1110 | 48508075-48508077 |
336 | HESX1 | 3 | 0.9336917562724 | 37 | 558 | 57232225-57232261 |
337 | PDHB | 3 | 0.99722222222222 | 3 | 1080 | 58416496-58416498 |
338 | ATXN7 | 3 | 0.89217758985201 | 306 | 2838 | 63898275-63898403, 63898412-63898416, 63898418-63898426, 63898436-63898589, 63898597, 63968670-63968677 |
339 | ROBO2 | 3 | 0.9997582789461 | 1 | 4137 | 77530350 |
340 | GBE1 | 3 | 0.95116168800379 | 103 | 2109 | 81698049-81698051, 81698054, 81754625, 81754630, 81754636, 81754643-81754647, 81754656-81754715, 81754718-81754727, 81754730-81754735, 81754740, 81754748-81754761 |
341 | PROS1 | 3 | 0.9670113244707 | 67 | 2031 | 93595884, 93595938-93595958, 93595973-93595987, 93595992-93596017, 93596027-93596030 |
342 | ARL13B | 3 | 0.997668997669 | 3 | 1287 | 93762035, 93762050-93762051 |
343 | ARL6 | 3 | 0.9554367201426 | 25 | 561 | 97503799-97503823 |
344 | ACAD9 | 3 | 0.9994640943194 | 1 | 1866 | 128628992 |
345 | ATP2C1 | 3 | 0.99964912280702 | 1 | 2850 | 130711800 |
346 | NPHP3 | 3 | 0.9671925870273 | 131 | 3993 | 132418284, 132418291-132418292, 132431978, 132438549-132438674, 132441000 |
347 | FOXL2 | 3 | 0.97612732095491 | 27 | 1131 | 138664555-138664564, 138664572-138664575, 138664866, 138664869-138664878, 138664884-138664885 |
348 | MRPS22 | 3 | 0.99538319482918 | 5 | 1083 | 139075781-139075785 |
349 | PLOD2 | 3 | 0.97496706192358 | 57 | 2277 | 145799609-145799615, 145804582, 145804622-145804653, 145804672, 145804675-145804682, 145804691-145804695, 145828129, 145828159, 145828167 |
350 | IFT80 | 3 | 0.99785223367698 | 5 | 2328 | 160018722, 160093649-160093650, 160093654-160093655 |
351 | OPA1 | 3 | 0.97801837270341 | 67 | 3048 | 193354984, 193354997-193355031, 193355040-193355070 |
352 | IDUA | 4 | 0.99694189602446 | 6 | 1962 | 980896-980897, 996614, 996636, 996709, 997170 |
353 | HTT | 4 | 0.99247003924064 | 71 | 9429 | 3076605-3076608, 3076617-3076665, 3076681, 3076689, 3213784-3213799 |
354 | DOK7 | 4 | 0.9953795379538 | 7 | 1515 | 3465257, 3465262, 3465273-3465277 |
355 | EVC | 4 | 0.99899295065458 | 3 | 2979 | 5713180-5713182 |
356 | CC2D2A | 4 | 0.99835492494345 | 8 | 4863 | 15534918-15534925 |
357 | CNGA1 | 4 | 0.91052631578947 | 204 | 2280 | 47939787, 47954601-47954702, 47972920-47972950, 47972960-47972965, 47972980, 47972982-47973024, 47973052-47973071 |
358 | SGCB | 4 | 0.99895506792059 | 1 | 957 | 52896017 |
359 | SLC4A4 | 4 | 0.99908675799087 | 3 | 3285 | 72306449, 72306469-72306470 |
360 | COQ2 | 4 | 0.9991341991342 | 1 | 1155 | 84193285 |
361 | PKD2 | 4 | 0.99174406604747 | 24 | 2907 | 88928933, 88928940-88928951, 88928954, 88928970-88928973, 88929004-88929009 |
362 | SNCA | 4 | 0.87943262411348 | 51 | 423 | 90749294-90749324, 90749327-90749335, 90756699-90756702, 90756705-90756707, 90756715-90756718 |
363 | MANBA | 4 | 0.99734848484848 | 7 | 2640 | 103592503-103592509 |
364 | CISD2 | 4 | 0.92647058823529 | 30 | 408 | 103808512-103808522, 103808569-103808587 |
365 | CFI | 4 | 0.99600456621005 | 7 | 1752 | 110673638, 110673644-110673649 |
366 | GAR1 | 4 | 0.99235474006116 | 5 | 654 | 110740157-110740161 |
367 | ANK2 | 4 | 0.99991578238167 | 1 | 11874 | 114161667 |
368 | BBS7 | 4 | 0.94599627560521 | 116 | 2148 | 122765109-122765115, 122766737-122766768, 122775859-122775902, 122775913, 122775921-122775930, 122775936-122775954, 122775960, 122782675, 122782746 |
369 | MFSD8 | 4 | 0.99036608863198 | 15 | 1557 | 128854211-128854221, 128859983-128859986 |
370 | SMAD1 | 4 | 0.99141630901288 | 12 | 1398 | 146478943-146478954 |
371 | GLRB | 4 | 0.96787148594378 | 48 | 1494 | 158041708-158041755 |
372 | ETFDH | 4 | 0.99946062567422 | 1 | 1854 | 159618851 |
373 | GK | 4 | 0.9777376654633 | 37 | 1662 | 166199386-166199392, 166199426-166199432, 166199589-166199610, 166200037 |
374 | SDHA | 5 | 0.99097744360902 | 18 | 1995 | 223682-223683, 236673-236681, 256469-256475 |
375 | TERT | 5 | 0.99411591644601 | 20 | 3399 | 1295053-1295056, 1295064, 1295080-1295092, 1295101-1295102 |
376 | SDHA | 5 | 0.92354740061162 | 25 | 327 | 1593261-1593285 |
377 | DNAH5 | 5 | 0.99437837837838 | 78 | 13875 | 13727752, 13792256, 13810214, 13862717, 13862723, 13862734, 13916457-13916527, 13916540 |
378 | FAM134B | 5 | 0.9946452476573 | 8 | 1494 | 16478962-16478968, 16616838 |
379 | AMACR | 5 | 0.98955613577023 | 12 | 1149 | 33998796-33998807 |
380 | NIPBL | 5 | 0.98134284016637 | 157 | 8415 | 37022407, 37022428, 37036481-37036497, 37036506-37036589, 37048623-37048625, 37048629-37048640, 37048660-37048671, 37048676-37048677, 37048679-37048690, 37048698, 37048719-37048721, 37048724, 37048729-37048736 |
381 | LIFR | 5 | 0.99514268366727 | 16 | 3294 | 38482724-38482728, 38490324, 38490360-38490366, 38490379, 38490386, 38506018 |
382 | OXCT1 | 5 | 0.9488163787588 | 80 | 1563 | 41862761-41862811, 41862821-41862849 |
383 | ITGA2 | 5 | 0.99576988155668 | 15 | 3546 | 52347241-52347255 |
384 | ERCC8 | 5 | 0.99916036943745 | 1 | 1191 | 60200693 |
385 | SMN2 | 5 | 0.9774011299435 | 20 | 885 | 69359242-69359247, 69362949, 69363218-69363229, 69366541 |
386 | SMN2 | 5 | 0.9774011299435 | 20 | 885 | 70234666-70234671, 70238373, 70238642-70238653, 70241966 |
387 | AP3B1 | 5 | 0.99330289193303 | 22 | 3285 | 77311240-77311246, 77311284-77311291, 77311353-77311358, 77471509 |
388 | RASA1 | 5 | 0.94815521628499 | 163 | 3144 | 86645130-86645134, 86669980-86670137 |
389 | MEF2C | 5 | 0.9915611814346 | 12 | 1422 | 88024358-88024362, 88024423-88024429 |
390 | GPR98 | 5 | 0.9961418529676 | 73 | 18921 | 89933693, 89940531-89940537, 89941875, 89971951-89971958, 89971968-89971972, 89971975, 89971983-89971985, 89971990, 90004680, 90020712-90020717, 90020722-90020726, 90020786-90020806, 90074337-90074338, 90144593-90144597, 90144604, 90144607-90144610, 90144616 |
391 | WDR36 | 5 | 0.9859943977591 | 40 | 2856 | 110432784-110432802, 110436322-110436336, 110436371-110436374, 110436406, 110436414 |
392 | APC | 5 | 0.99964838255977 | 3 | 8532 | 112128143-112128144, 112128185 |
393 | HSD17B4 | 5 | 0.99728629579376 | 6 | 2211 | 118835034, 118835047, 118835137, 118835146, 118862836, 118862839 |
394 | HSD17B4 | 5 | 0.99290780141844 | 2 | 282 | 118862836, 118862839 |
395 | ALDH7A1 | 5 | 0.99753086419753 | 4 | 1620 | 125904038-125904041 |
396 | FBN2 | 5 | 0.99485066941298 | 45 | 8739 | 127597441, 127702073-127702080, 127702089-127702123, 127863654 |
397 | MYOT | 5 | 0.97795591182365 | 33 | 1497 | 137221737, 137221789, 137221805-137221808, 137221819-137221824, 137221847-137221850, 137221859, 137221867-137221870, 137221875-137221876, 137221880-137221886, 137221900-137221902 |
398 | MATR3 | 5 | 0.99882075471698 | 3 | 2544 | 138651866, 138658511, 138658514 |
399 | DIAPH1 | 5 | 0.97433883215501 | 98 | 3819 | 140909182-140909187, 140953423-140953429, 140953452-140953454, 140953457, 140953515-140953553, 140953560-140953601 |
400 | GABRG2 | 5 | 0.99483204134367 | 8 | 1548 | 161569239-161569246 |
401 | MSX2 | 5 | 0.99875621890547 | 1 | 804 | 174151898 |
402 | GRM6 | 5 | 0.98671222475323 | 35 | 2634 | 178421675-178421677, 178421681, 178421798-178421801, 178421864-178421869, 178421892-178421898, 178421902, 178421909-178421911, 178421923, 178421927-178421934, 178421937 |
403 | FLT4 | 5 | 0.99975562072336 | 1 | 4092 | 180038338 |
404 | FOXC1 | 6 | 0.99458483754513 | 9 | 1662 | 1611504-1611506, 1611799, 1611802-1611806 |
405 | TUBB2B | 6 | 0.99925261584454 | 1 | 1338 | 3225482 |
406 | DSP | 6 | 0.99953574744661 | 4 | 8616 | 7581403-7581406 |
407 | ATXN1 | 6 | 0.97058823529412 | 72 | 2448 | 16327857, 16327862-16327932 |
408 | ALDH5A1 | 6 | 0.99271402550091 | 12 | 1647 | 24502790-24502801 |
409 | HFE | 6 | 0.99904489016237 | 1 | 1047 | 26091779 |
410 | HLA-H | 6 | 0.948 | 39 | 750 | 29856330, 29856397, 29856406, 29856418-29856421, 29856427, 29856505, 29856516, 29856534, 29856546, 29856550-29856552, 29856593-29856614, 29856643, 29856693 |
411 | TNXB | 6 | 0.92327630896838 | 148 | 1929 | 31976896-31976929, 31977388-31977394, 31977525-31977555, 31977994-31978001, 31978498-31978517, 31978782-31978815, 31979403-31979409, 31979476-31979482 |
412 | CYP21A2 | 6 | 0.94422043010753 | 83 | 1488 | 32006200-32006242, 32006337, 32006384-32006390, 32008195-32008201, 32008445-32008454, 32008893-32008907 |
413 | TNXB | 6 | 0.99512923246131 | 62 | 12729 | 32009648-32009664, 32010123-32010129, 32010269-32010275, 32010728-32010735, 32011235, 32011248, 32012257-32012263, 32012330-32012336, 32013034-32013040 |
414 | HLA-DQA1 | 6 | 0.97395833333333 | 20 | 768 | 32610387-32610406 |
415 | HLA-DQB1 | 6 | 0.88804071246819 | 88 | 786 | 32629224-32629234, 32632575-32632651 |
416 | COL11A2 | 6 | 0.99904049126847 | 5 | 5211 | 33140131-33140135 |
417 | SYNGAP1 | 6 | 0.9280753968254 | 290 | 4032 | 33388042-33388108, 33393610-33393679, 33411512, 33411518-33411522, 33411528-33411535, 33411544-33411680, 33411683, 33411686 |
418 | RUNX2 | 6 | 0.95530012771392 | 70 | 1566 | 45390433-45390438, 45390444, 45390447-45390495, 45390501-45390502, 45390520-45390523, 45399698-45399705 |
419 | CD2AP | 6 | 0.99166666666667 | 16 | 1920 | 47471055, 47563645-47563650, 47563660-47563661, 47575692-47575698 |
420 | MUT | 6 | 0.98180204172215 | 41 | 2253 | 49409553-49409554, 49409575, 49409597-49409628, 49409645-49409646, 49409667, 49412433, 49421387, 49423854 |
421 | PKHD1 | 6 | 0.999918200409 | 1 | 12225 | 51497429 |
422 | EYS | 6 | 0.99194488606253 | 76 | 9435 | 65098654, 65098704, 65146117, 65149098, 65523291-65523297, 65523349-65523398, 65523417-65523423, 65596590-65596594, 66063399, 66063423, 66115135 |
423 | LMBRD1 | 6 | 0.96919285274184 | 50 | 1623 | 70408938-70408975, 70410731-70410735, 70410740, 70410743-70410746, 70462183-70462184 |
424 | COL9A1 | 6 | 0.99963846710051 | 1 | 2766 | 70981371 |
425 | RIMS1 | 6 | 0.99448710376058 | 28 | 5079 | 72974733-72974742, 73023306, 73023309-73023311, 73023314-73023319, 73023329-73023335, 73108758 |
426 | SLC17A5 | 6 | 0.98185483870968 | 27 | 1488 | 74331584-74331597, 74331647, 74354144-74354155 |
427 | MYO6 | 6 | 0.99948159668222 | 2 | 3858 | 76564983, 76623808 |
428 | LCA5 | 6 | 0.99331423113658 | 14 | 2094 | 80196768-80196771, 80196774, 80196780, 80201343-80201349, 80202289 |
429 | BCKDHB | 6 | 0.98218829516539 | 21 | 1179 | 80881008-80881013, 80881024, 80881043-80881047, 80881069, 80881073, 80881090-80881094, 80881102, 80881107 |
430 | RARS2 | 6 | 0.99942429476108 | 1 | 1737 | 88231226 |
431 | PDSS2 | 6 | 0.9975 | 3 | 1200 | 107780274, 107780297, 107780300 |
432 | OSTM1 | 6 | 0.97114427860697 | 29 | 1005 | 108365989-108366017 |
433 | FIG4 | 6 | 0.99743024963289 | 7 | 2724 | 110081478-110081481, 110106228-110106230 |
434 | WISP3 | 6 | 0.96514745308311 | 39 | 1119 | 112389540-112389578 |
435 | ENPP1 | 6 | 0.97696184305256 | 64 | 2778 | 132171184, 132203485-132203487, 132203490, 132203495-132203503, 132203526-132203536, 132203546-132203583, 132203594 |
436 | EYA4 | 6 | 0.99791666666667 | 4 | 1920 | 133767861, 133783581-133783583 |
437 | AHI1 | 6 | 0.99916457811195 | 3 | 3591 | 135763744-135763745, 135777015 |
438 | PEX7 | 6 | 0.93518518518519 | 63 | 972 | 137143860-137143867, 137167221, 137167242-137167246, 137167254-137167293, 137167299-137167307 |
439 | PEX3 | 6 | 0.9982174688057 | 2 | 1122 | 143792219, 143792573 |
440 | IYD | 6 | 0.98850574712644 | 10 | 870 | 150719260-150719269 |
441 | SYNE1 | 6 | 0.99825717966204 | 46 | 26394 | 152545677, 152545788, 152630985-152630986, 152730731-152730760, 152730782-152730788, 152737829-152737832, 152819885 |
442 | PARK2 | 6 | 0.99499284692418 | 7 | 1398 | 161969938-161969944 |
443 | TBP | 6 | 0.93627450980392 | 65 | 1020 | 170871021-170871032, 170871036-170871040, 170871043, 170871046, 170871049-170871054, 170871058-170871069, 170871076, 170871079-170871082, 170871085-170871090, 170871093-170871109 |
444 | LFNG | 7 | 0.8719298245614 | 146 | 1140 | 2559496-2559563, 2559573-2559591, 2559604-2559606, 2559610-2559620, 2559623, 2559635, 2559639-2559648, 2559662-2559687, 2559748-2559750, 2559758, 2559774-2559775, 2559894 |
445 | PMS2 | 7 | 0.99459250675937 | 14 | 2589 | 6029437-6029443, 6029450-6029456 |
446 | TWIST1 | 7 | 0.7487684729064 | 153 | 609 | 19156666, 19156793-19156944 |
447 | DNAH11 | 7 | 0.9991895078102 | 11 | 13572 | 21630567, 21630610-21630613, 21630617-21630619, 21630623, 21893935, 21894024 |
448 | FAM126A | 7 | 0.99489144316731 | 8 | 1566 | 23004047-23004054 |
449 | HOXA1 | 7 | 0.99702380952381 | 3 | 1008 | 27135317-27135319 |
450 | HOXA13 | 7 | 0.82519280205656 | 204 | 1167 | 27239078-27239103, 27239309, 27239313-27239314, 27239331-27239355, 27239369, 27239378-27239461, 27239464, 27239472-27239474, 27239530-27239590 |
451 | GARS | 7 | 0.99864864864865 | 3 | 2220 | 30642695-30642697 |
452 | BBS9 | 7 | 0.98948948948949 | 28 | 2664 | 33303943-33303962, 33303979-33303986 |
453 | TXNDC3 | 7 | 0.98415393322015 | 28 | 1767 | 37916560-37916587 |
454 | GLI3 | 7 | 0.99894581488509 | 5 | 4743 | 42005588, 42005591-42005594 |
455 | CCM2 | 7 | 0.97752808988764 | 30 | 1335 | 45039933-45039962 |
456 | KCTD7 | 7 | 0.99885057471264 | 1 | 870 | 66094154 |
457 | SBDS | 7 | 0.99070385126162 | 7 | 753 | 66456158-66456164 |
458 | NCF1 | 7 | 0.9830303030303 | 14 | 825 | 72640033-72640039, 72643704-72643710 |
459 | ELN | 7 | 0.99908045977011 | 2 | 2175 | 73442546, 73442553 |
460 | NCF1 | 7 | 0.99317988064791 | 8 | 1173 | 74193665-74193671, 74203016 |
461 | HGF | 7 | 0.99771376314586 | 5 | 2187 | 81340799-81340800, 81340804, 81340815, 81399267 |
462 | AKAP9 | 7 | 0.9959911293074 | 47 | 11724 | 91609603-91609647, 91714911, 91714919 |
463 | KRIT1 | 7 | 0.99276345545002 | 16 | 2211 | 91844039, 91851271-91851281, 91867006-91867009 |
464 | PEX1 | 7 | 0.99844236760125 | 6 | 3852 | 92134103, 92134107, 92157671-92157674 |
465 | COL1A2 | 7 | 0.99512314069739 | 20 | 4101 | 94030912-94030916, 94030929, 94049712-94049717, 94049908-94049911, 94049918-94049920, 94058703 |
466 | SGCE | 7 | 0.99705014749263 | 4 | 1356 | 94252700, 94259062-94259064 |
467 | SLC25A13 | 7 | 0.99950763170852 | 1 | 2031 | 95906560 |
468 | TFR2 | 7 | 0.99958437240233 | 1 | 2406 | 100229459 |
469 | SLC26A5 | 7 | 0.97941834451902 | 46 | 2235 | 103017264-103017309 |
470 | RELN | 7 | 0.99980726606919 | 2 | 10377 | 103417009-103417010 |
471 | SLC26A4 | 7 | 0.9995731967563 | 1 | 2343 | 107323947 |
472 | IFRD1 | 7 | 0.99926253687316 | 1 | 1356 | 112101922 |
473 | CFTR | 7 | 0.95633580913797 | 194 | 4443 | 117188713-117188753, 117188760-117188800, 117188842-117188877, 117234990, 117234998-117235020, 117235030, 117235041-117235046, 117235068-117235112 |
474 | AASS | 7 | 0.99532542250989 | 13 | 2781 | 121769507, 121769546-121769548, 121769552, 121769577-121769582, 121769590-121769591 |
475 | IMPDH1 | 7 | 0.99944444444444 | 1 | 1800 | 128049854 |
476 | ATP6V0A4 | 7 | 0.95798652397939 | 106 | 2523 | 138394369-138394441, 138394448-138394468, 138394491-138394496, 138394501, 138394507-138394511 |
477 | BRAF | 7 | 0.98739678400695 | 29 | 2301 | 140477806-140477813, 140477817-140477818, 140477826-140477838, 140624408-140624413 |
478 | PRSS1 | 7 | 0.85215053763441 | 110 | 744 | 142458448-142458489, 142459676-142459697, 142460332-142460338, 142460366-142460397, 142460798-142460804 |
479 | CLCN1 | 7 | 0.99932591843613 | 2 | 2967 | 143017836-143017837 |
480 | CNTNAP2 | 7 | 0.9984984984985 | 6 | 3996 | 145813984-145813988, 145813997 |
481 | KCNH2 | 7 | 0.96896551724138 | 108 | 3480 | 150644587, 150644595-150644601, 150644700-150644718, 150644735-150644745, 150644753-150644775, 150648903, 150671857-150671858, 150671864, 150671867-150671898, 150674976-150674977, 150674979, 150674982, 150674987-150674992, 150674998 |
482 | SHH | 7 | 0.99784017278618 | 3 | 1389 | 155595799, 155595804, 155595809 |
483 | MNX1 | 7 | 0.90464344941957 | 115 | 1206 | 156802603-156802606, 156802656-156802750, 156802754, 156802771-156802779, 156802790, 156802900, 156802904-156802907 |
484 | GATA4 | 8 | 0.99924755455229 | 1 | 1329 | 11565884 |
485 | TUSC3 | 8 | 0.99904489016237 | 1 | 1047 | 15480596 |
486 | ADAM9 | 8 | 0.99837398373984 | 4 | 2460 | 38880737, 38959436-38959438 |
487 | THAP1 | 8 | 0.99065420560748 | 6 | 642 | 42693203-42693205, 42693237-42693239 |
488 | HGSNAT | 8 | 0.99947589098532 | 1 | 1908 | 42995701 |
489 | RP1 | 8 | 0.99969092875908 | 2 | 6471 | 55539056-55539057 |
490 | CHD7 | 8 | 0.99866577718479 | 12 | 8994 | 61749503-61749507, 61749514-61749520 |
491 | NBN | 8 | 0.99867549668874 | 3 | 2265 | 90960112-90960114 |
492 | TMEM67 | 8 | 0.99096385542169 | 27 | 2988 | 94777841, 94777846-94777847, 94777851-94777854, 94777858, 94811933-94811950, 94827552 |
493 | GDF6 | 8 | 0.99780701754386 | 3 | 1368 | 97172684-97172686 |
494 | VPS13B | 8 | 0.99091212272803 | 109 | 11994 | 100050750-100050768, 100123387, 100123390-100123398, 100123406-100123421, 100123440-100123441, 100123445-100123452, 100123457-100123460, 100123462-100123464, 100146860-100146863, 100146913-100146915, 100287407-100287413, 100287438-100287461, 100513982-100513989, 100514013 |
495 | RRM2B | 8 | 0.99905303030303 | 1 | 1056 | 103231155 |
496 | DPYS | 8 | 0.99807692307692 | 3 | 1560 | 105405098-105405100 |
497 | KCNQ3 | 8 | 0.99579992363498 | 11 | 2619 | 133492567, 133492575, 133492761, 133492763-133492770 |
498 | TG | 8 | 0.99987961959793 | 1 | 8307 | 133882071 |
499 | CYP11B1 | 8 | 0.96097883597884 | 59 | 1512 | 143958288-143958294, 143958513-143958533, 143958572-143958602 |
500 | CYP11B2 | 8 | 0.97619047619048 | 36 | 1512 | 143993988-143993994, 143994026-143994032, 143994263-143994282, 143996539, 143996553 |
501 | PLEC | 8 | 0.99672714336535 | 46 | 14055 | 144993060-144993062, 144996225-144996236, 144996242-144996250, 144996255-144996258, 144996376-144996377, 144996383, 144997101-144997107, 144998910-144998917 |
502 | GPT | 8 | 0.99932930918846 | 1 | 1491 | 145731671 |
503 | KCNV2 | 9 | 0.9969474969475 | 5 | 1638 | 2718763-2718767 |
504 | JAK2 | 9 | 0.97116799058547 | 98 | 3399 | 5077453-5077547, 5077570-5077572 |
505 | TRPM6 | 9 | 0.99967045641786 | 2 | 6069 | 77473585-77473586 |
506 | VPS13A | 9 | 0.97795275590551 | 210 | 9525 | 79814894-79814904, 79824380, 79835245, 79840889-79840897, 79841397-79841403, 79841425-79841429, 79841440-79841443, 79843087, 79843135, 79843143, 79891023, 79896799-79896807, 79896822-79896830, 79896838-79896842, 79897124-79897159, 79908323-79908325, 79908328, 79928915-79928918, 79932533-79932534, 79932546-79932549, 79932556-79932562, 79932569, 79932574-79932578, 79932590-79932595, 79932607-79932614, 79933168, 79934492-79934499, 79938003-79938011, 79946937-79946940, 79946950-79946961, 79946969-79946976, 79946985-79946988, 79947000-79947006, 79959105, 79980472-79980474, 79980477-79980478, 79996909-79996913, 79996927-79996928, 79996956, 79996965 |
507 | FOXE1 | 9 | 0.98306595365419 | 19 | 1122 | 100616697-100616706, 100616709-100616712, 100616731-100616735 |
508 | TGFBR1 | 9 | 0.99669312169312 | 5 | 1512 | 101867538-101867540, 101867546, 101867549 |
509 | INVS | 9 | 0.99968730456535 | 1 | 3198 | 103015358 |
510 | FKTN | 9 | 0.9992784992785 | 1 | 1386 | 108337390 |
511 | MUSK | 9 | 0.9992337164751 | 2 | 2610 | 113449488, 113562946 |
512 | NR5A1 | 9 | 0.99422799422799 | 8 | 1386 | 127245164, 127245170-127245172, 127245175-127245178 |
513 | SETX | 9 | 0.9991287030122 | 7 | 8034 | 135139881-135139885, 135139888, 135139891 |
514 | CEL | 9 | 0.86085424922941 | 316 | 2271 | 135946012-135946018, 135946654-135946660, 135946668-135946801, 135946807-135946966, 135946992-135946999 |
515 | ADAMTS13 | 9 | 0.98832866479925 | 50 | 4284 | 136293839-136293888 |
516 | DBH | 9 | 0.99838187702265 | 3 | 1854 | 136522279, 136523501-136523502 |
517 | COL5A1 | 9 | 0.99311219865869 | 38 | 5517 | 137534078-137534082, 137534086-137534118 |
518 | LHX3 | 9 | 0.98263027295285 | 21 | 1209 | 139090809-139090812, 139090880-139090883, 139090892, 139094822-139094828, 139094835-139094836, 139094858-139094860 |
519 | AGPAT2 | 9 | 0.95340501792115 | 39 | 837 | 139581751-139581789 |
520 | SLC34A3 | 9 | 0.96777777777778 | 58 | 1800 | 140128343-140128377, 140128606-140128628 |
521 | EHMT1 | 9 | 0.99948678470618 | 2 | 3897 | 140605472, 140705914 |
522 | FANCB | X | 0.99961240310078 | 1 | 2580 | 14877413 |
523 | AP1S2 | X | 0.98945147679325 | 5 | 474 | 15870609-15870612, 15870615 |
524 | RPS6KA3 | X | 0.99910031488979 | 2 | 2223 | 20213252, 20222145 |
525 | SMS | X | 0.97456857402361 | 28 | 1101 | 21958963-21958990 |
526 | ARX | X | 0.97335701598579 | 45 | 1689 | 25031371-25031385, 25031651, 25031655-25031671, 25031676, 25031683-25031684, 25031780-25031783, 25031796, 25031799, 25031807-25031809 |
527 | NR0B1 | X | 0.99150743099788 | 12 | 1413 | 30327318-30327329 |
528 | GK | X | 0.99939831528279 | 1 | 1662 | 30718976 |
529 | DMD | X | 0.99801049014288 | 22 | 11058 | 31893379-31893380, 32383283, 32398628, 32398656-32398659, 32398667-32398672, 32398683, 32398716, 32490316-32490319, 32613895-32613896 |
530 | RPGR | X | 0.94709453599306 | 183 | 3459 | 38145340-38145343, 38145346, 38145354-38145355, 38145403-38145404, 38145423, 38145462-38145631, 38145638-38145640 |
531 | TSPAN7 | X | 0.988 | 9 | 750 | 38546867-38546875 |
532 | NYX | X | 0.99930843706777 | 1 | 1446 | 41333950 |
533 | RP2 | X | 0.99810066476733 | 2 | 1053 | 46739177-46739178 |
534 | SYN1 | X | 0.99905571293673 | 2 | 2118 | 47433816, 47434109 |
535 | WAS | X | 0.99801192842942 | 3 | 1509 | 48547215, 48547218, 48547237 |
536 | CLCN5 | X | 0.9983680130559 | 4 | 2451 | 49834610-49834613 |
537 | AR | X | 0.95874049945711 | 114 | 2763 | 66765149-66765153, 66765155-66765221, 66765617-66765628, 66766119, 66766357-66766362, 66766365-66766374, 66766377-66766389 |
538 | MED12 | X | 0.98316498316498 | 110 | 6534 | 70338605-70338606, 70338619, 70338650, 70338660, 70338664, 70338688, 70349619-70349622, 70360596-70360598, 70360613-70360617, 70360626, 70360629, 70360633-70360635, 70360639-70360686, 70361106-70361139, 70361196, 70361201-70361202, 70361212 |
539 | TAF1 | X | 0.96832101372756 | 180 | 5682 | 70586165-70586344 |
540 | PHKA1 | X | 0.99891067538126 | 4 | 3672 | 71813031-71813034 |
541 | SLC16A2 | X | 0.98208469055375 | 33 | 1842 | 73641370-73641372, 73641378-73641381, 73641385-73641410 |
542 | ATRX | X | 0.99893033828052 | 8 | 7479 | 76813032, 76814154, 76875980-76875985 |
543 | ATP7A | X | 0.99933377748168 | 3 | 4503 | 77227222, 77227226, 77227237 |
544 | BRWD3 | X | 0.98520983545942 | 80 | 5409 | 79959090, 79964990, 79965017-79965024, 79991487-79991493, 79991496, 79991499, 79991502, 79991512-79991513, 79991540-79991545, 79991547, 79991565-79991572, 79991580-79991587, 80001098-80001101, 80064940-80064970 |
545 | ZNF711 | X | 0.99956255468066 | 1 | 2286 | 84520199 |
546 | CHM | X | 0.99592252803262 | 8 | 1962 | 85166314-85166315, 85211280-85211283, 85212860, 85213982 |
547 | SRPX2 | X | 0.99570815450644 | 6 | 1398 | 99917292-99917297 |
548 | COL4A5 | X | 0.99683669434559 | 16 | 5058 | 107819173-107819179, 107834400-107834403, 107834413-107834417 |
549 | LAMP2 | X | 0.98462783171521 | 19 | 1236 | 119590530-119590540, 119590570-119590576, 119590587 |
550 | XIAP | X | 0.99732262382865 | 4 | 1494 | 123025098, 123025116, 123025120, 123025124 |
551 | PHF6 | X | 0.98269581056466 | 19 | 1098 | 133549100, 133549103, 133549112-133549115, 133559237-133559249 |
552 | SLC9A6 | X | 0.99382716049383 | 13 | 2106 | 135067696, 135104745-135104755, 135104833 |
553 | ZIC3 | X | 0.95655270655271 | 61 | 1404 | 136648985-136648987, 136651085-136651090, 136651096-136651133, 136651138-136651144, 136651172-136651178 |
554 | SOX3 | X | 0.96644295302013 | 45 | 1341 | 139586142-139586146, 139586149-139586153, 139586168, 139586170-139586173, 139586434-139586441, 139586445, 139586451-139586459, 139586465, 139586468-139586478 |
555 | SLC6A8 | X | 0.87893081761006 | 231 | 1908 | 152954030-152954248, 152959897-152959901, 152960547-152960553 |
556 | ABCD1 | X | 0.93297587131367 | 150 | 2238 | 153006138-153006144, 153008473-153008487, 153008675-153008688, 153008705-153008734, 153008785-153008791, 153008981-153008987, 153009014-153009033, 153009059-153009089, 153009137-153009155 |
557 | AVPR2 | X | 0.99551971326165 | 5 | 1116 | 153172050, 153172060-153172063 |
558 | MECP2 | X | 0.95791583166333 | 63 | 1497 | 153296204, 153363061-153363122 |
559 | OPN1LW | X | 0.94337899543379 | 62 | 1095 | 153418453-153418471, 153418520-153418544, 153420173-153420179, 153421909-153421919 |
560 | OPN1MW | X | 0.92237442922374 | 85 | 1095 | 153455583-153455593, 153455650-153455668, 153457294-153457302, 153458997, 153459000-153459003, 153459043-153459083 |
561 | OPN1MW | X | 0.95068493150685 | 54 | 1095 | 153492701-153492719, 153492768-153492786, 153494412-153494420, 153496161-153496167 |
562 | IKBKG | X | 0.98907103825137 | 16 | 1464 | 153792557-153792572 |
563 | IKBKG | X | 0.96728016359918 | 16 | 489 | 153868355-153868370 |
Effect rank | Variant | Phase/ Zygosity | Allele freq | Impact | Evaluation | Summary / Info |
---|---|---|---|---|---|---|
5 | BRCA1-Q356R | het unknown | 0.023 | Dominant pathogenic | Moderate clinical importance, likely | This variant was associated with an increased susceptibility to breast cancer. Johnson et al. found strongest significance for a dominant hypothesis. We estimate a woman carrying this variant to have an attributable increased lifetime risk of breast cancer of ~6% (~18% total, assuming 12% average lifetime risk). |
2.5 | NOD2-P268S | homozygous | 0.105 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
2.5 | NOD2-R702W | het unknown | 0.012 | Complex/Other pathogenic | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.97 (probably damaging), Testable gene in GeneTests |
2.5 | MC2R-S74I | het unknown | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests | |
2 | SP110-M523T | homozygous | 0.319 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
2 | SP110-L425S | homozygous | 0.875 | Unknown pathogenic | Low clinical importance, uncertain | This variant is associated with a slightly increased risk of tuberculosis. It is unclear whether it is itself causal, or in linkage disequilibrium with some other causal variant that has a stronger effect. |
2 | SP110-W112R | homozygous | 0.945 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
2 | CHIT1-A442G | het unknown | 0.092 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
2 | CHIT1-V357V* | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation, Testable gene in GeneTests |
2 | CHIT1-G102S | het unknown | 0.268 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.057 (benign), Testable gene in GeneTests |
2 | CHIT1-E74K | het unknown | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests | |
2 | KCNJ11-V337I | homozygous | 0.761 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
2 | KCNJ11-K23E | homozygous | 0.711 | Unknown protective | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
2 | PCSK9-V474I | homozygous | 0.859 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
2 | PCSK9-G670E | homozygous | 0.848 | Unknown benign | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
2 | ABCG8-D19H | het unknown | 0.043 | Complex/Other pathogenic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests |
2 | ABCG8-Y54C | het unknown | 0.431 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.01 (benign), Testable gene in GeneTests |
2 | ABCG8-V632A | homozygous | 0.908 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
2 | APOB-S4338N | homozygous | 0.725 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
2 | APOB-E4181K | het unknown | 0.121 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
2 | APOB-I2313V | het unknown | 0.964 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
2 | APOB-Y1422C | homozygous | 0.994 | Unknown benign | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
2 | APOB-A618V | het unknown | 0.494 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
2 | APOB-T98I | het unknown | 0.149 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
2 | TP53-P72R | homozygous | 0.550 | Unknown pathogenic | Low clinical importance, uncertain | This is a common variant was first reported as a polymorphism. It has since had mixed associations with cancer: Storey et al. conclude a 7x *increased* risk of HPV cancer for homozygotes vs hets, but Jones et al. find a 1.98x *decreased* risk for colorectal cancer. This variant may have significant impact on particular cancers, but it is unclear what effect it has on the overall burden of cancer. |
2 | KEL-T193M | het unknown | 0.016 | Dominant benign | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging) |
2 | NEFL-S472Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview | |
1.5 | CILP-Q979R | homozygous | 0.986 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
1.5 | CILP-K575E | homozygous | 0.974 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
1.5 | CILP-I395T | homozygous | 0.491 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
1.5 | APOA5-S19W | het unknown | 0.039 | Unknown pathogenic | Low clinical importance, likely | This variant, also known as APOA5*3, is associated with higher plasma triglyceride concentrations but no significant correlation with coronary artery disease itself has been found. |
1.5 | ITGAM-R77H | het unknown | 0.095 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.048 (benign) |
1.5 | ITGAM-A859V | het unknown | 0.136 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
1.5 | ITGAM-P1147S | het unknown | 0.141 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
1.5 | PRNP-M129V | het unknown | 0.258 | Complex/Other protective | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.628 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
1 | GATSL1-N17K | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown | |
1 | C17orf103-C16Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | SEBOX-L207S | homozygous | 0.913 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
1 | SEBOX-W10Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | TAS2R38-I296V | het unknown | 0.534 | Unknown benign | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.984 (probably damaging) |
1 | TAS2R38-A262V | het unknown | 0.397 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.01 (benign) |
1 | TAS2R38-A49P | het unknown | 0.495 | Unknown benign | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
1 | PIK3R6-L609Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | KCP-H313Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | KCP-A16Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | MAPT-Y441H | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
1 | ELAC2-S217L | het unknown | 0.209 | Complex/Other pathogenic | Low clinical importance, uncertain | Reported to be associated with increased susceptibility to prostate cancer, but later studies weaken the hypothesis. Xu et al.'s meta-analysis concludes that there is a small but significant increased risk (OR = 1.13). Assuming a lifetime risk of 16% for prostate cancer we calculate this leads to an increased risk of ~1.5% (17.5% total). |
1 | ZNF167-N494Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | AGL-Q229R | het unknown | 0.046 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | HLA-DQB1-Q256R | homozygous | 0.215 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | HLA-DQB1-Q158H | het unknown | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | HLA-DQB1-G157S | homozygous | 0.140 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | HLA-DQB1-V148I | homozygous | 0.140 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | HLA-DQB1-D89S | het unknown | 0.200 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | HLA-DQB1-D89S | het unknown | 0.200 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | HLA-DQB1-A70V | homozygous | 0.009 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | HLA-DQB1-Y62H | homozygous | 0.140 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | HLA-DQB1-L58G | homozygous | 0.132 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | HLA-DQB1-M46L | homozygous | 0.140 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | HLA-DQB1-F41Y | homozygous | 0.789 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | HLA-DQB1-L28S | homozygous | 0.375 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | HLA-DQB1-M24I | homozygous | 0.294 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | HLA-DQB1-A6S | homozygous | 0.154 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | INSR-A2G | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests | |
1 | TNXB-R48P | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
1 | DCAF15-C482Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | C19orf55-G398Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | HSH2D-S223Shift | homozygous | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
1 | CYP4A22-R126W | homozygous | 0.289 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
1 | CYP4A22-G130S | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) | |
1 | CYP4A22-N152Y | homozygous | 0.790 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
1 | CYP4A22-V185F | homozygous | 0.140 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.472 (possibly damaging) |
1 | CYP4A22-C231R | homozygous | 0.598 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
1 | CYP4A22-L428P | homozygous | 0.297 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
1 | CCDC66-D5Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | CCDC66-Q383R | homozygous | 0.934 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
1 | CCDC66-R460Q | homozygous | 0.206 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.999 (probably damaging) |
1 | CUL7-Q813R | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
1 | IL23R-Q3H | homozygous | 0.501 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
1 | IL23R-L310P | homozygous | 0.884 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
1 | IL23R-R381Q | het unknown | 0.029 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
1 | DPYD-S534N | het unknown | 0.031 | Recessive pharmacogenetic | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests |
1 | DPYD-R29C | homozygous | 0.731 | Complex/Other pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
1 | TGIF1-P83Shift | het unknown | 0.139 | Complex/Other pathogenic | Low clinical importance, uncertain | Severe variants in this gene are associated with holoprosencephaly disorders when combined with loss-of-function variants in SHH. Haploinsufficiency was identified in some families with this condition. It is unclear how likely this variant is to occur in combination with an SHH variant, or what phenotypic effect the variant would have on its own. |
1 | ALG6-S306F | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
1 | ATP8B1-A1152T | homozygous | 0.998 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | ATP8B1-R952Q | het unknown | 0.052 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview |
1 | TTR-G26S | het unknown | 0.030 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | DSG2-I293V | het unknown | 0.036 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests with associated GeneReview |
1 | DSG2-E713K | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.137 (benign), Testable gene in GeneTests with associated GeneReview |
1 | DSG2-R773K | het unknown | 0.221 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
1 | ZFPM1-E444Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | ZFPM1-L446Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | ENO3-N71S | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
1 | ENO3-V85A | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
1 | MSH6-G39E | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 5 Polyphen 2: 0.873 (probably damaging), Testable gene in GeneTests with associated GeneReview | |
1 | CEP290-K838E | het unknown | 0.108 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | CEP290-D664G | het unknown | 0.134 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.958 (probably damaging), Testable gene in GeneTests with associated GeneReview |
1 | CEP290-E277Q | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.956 (probably damaging), Testable gene in GeneTests with associated GeneReview |
1 | TMPO-Q599E | het unknown | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 5 Polyphen 2: 0.878 (probably damaging), Testable gene in GeneTests with associated GeneReview |
1 | SMPD1-AL48Del | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
1 | SMPD1-G508R | homozygous | 0.151 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | SFTPA2-T9N | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown | |
1 | ABCC2-Y39F | homozygous | 0.990 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
1 | ABCC2-V417I | het unknown | 0.195 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
1 | ABCC2-V1188E | het unknown | 0.086 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
1 | ABCC2-C1515Y | het unknown | 0.095 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
1 | SCARB1-G2S | het unknown | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.937 (probably damaging) | |
1 | MS4A14-I56Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | MS4A14-N177Y | homozygous | 0.543 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.981 (probably damaging) |
1 | MS4A14-G584R | homozygous | 0.513 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.003 (benign) |
1 | KRT4-G160GAGGFGAGFGTGGFG | homozygous | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
1 | XDH-R1296W | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.954 (probably damaging), Testable gene in GeneTests | |
1 | TYR-R402Q | het unknown | 0.063 | Complex/Other benign | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests with associated GeneReview |
1 | CLECL1-S52Shift | homozygous | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
1 | B3GNT6-L316Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | B3GNT6-L335Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | CELA1-L210Shift | homozygous | 0.156 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Frameshift |
1 | CELA1-M59V | homozygous | 0.142 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.24 (possibly damaging) |
1 | CELA1-Y5P | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
1 | CELA1-V3Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | ABCG5-Q604E | het unknown | 0.191 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.73 (possibly damaging), Testable gene in GeneTests |
1 | ABCG5-R50C | het unknown | 0.070 | Unknown protective | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests |
1 | CYP1B1-N453S | het unknown | 0.094 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.837 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
1 | CYP1B1-V432L | homozygous | 0.547 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | CYP1B1-A119S | het unknown | 0.080 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | CYP1B1-R48G | het unknown | 0.360 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | MYH6-V1663I | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
1 | MYH6-DA1661ET | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
1 | MYH6-V1101A | het unknown | 0.422 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | MYH6-G56R | het unknown | 0.049 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | C14orf104-D768G | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
1 | C14orf104-E62D | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
1 | HRNR-L2688S | homozygous | 0.939 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
1 | HRNR-S799T | het unknown | 0.569 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
1 | HRNR-R664Q | het unknown | 0.568 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
1 | HRNR-Y517C | het unknown | 0.185 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
1 | HRNR-G492R | het unknown | 0.588 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
1 | HRNR-E473G | homozygous | 0.951 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
1 | HRNR-G427D | het unknown | 0.357 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
1 | HRNR-Q376R | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
1 | HRNR-H273Q | het unknown | 0.383 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
1 | HRNR-R85H | het unknown | 0.553 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.078 (benign) |
1 | HRNR-M1Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | GSPT1-V100A | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
1 | GSPT1-G92C | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) | |
1 | GSPT1-S23G | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
1 | PLEKHA2-P389Shift | homozygous | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
1 | ATG9B-A765Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | SPG7-K117R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
1 | SPG7-T503A | het unknown | 0.095 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
1 | SPG7-R688Q | het unknown | 0.072 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.203 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
1 | CYBA-Y72H | homozygous | 0.649 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
1 | DLL3-F172C | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 5 Polyphen 2: 0.981 (probably damaging), Testable gene in GeneTests with associated GeneReview | |
1 | DLL3-L218P | het unknown | 0.650 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | ZNF598-M637T | homozygous | 0.601 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
1 | ZNF598-R381Q | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
1 | ZNF598-G42Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | ZNF598-E25G | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
1 | ZNF598-E17A | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
1 | ZNF598-DM13AL | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
1 | ZNF598-G6Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | NR_027242-L311R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
1 | NR_027242-L114P | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
1 | NR_027242-Q97Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | NR_027242-L22P | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
1 | PTCHD3-*768Q | homozygous | 0.570 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
1 | PTCHD3-I584M | homozygous | 0.963 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
1 | PTCHD3-M521T | homozygous | 0.498 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
1 | PTCHD3-D473G | homozygous | 0.499 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.849 (possibly damaging) |
1 | PTCHD3-C407G | homozygous | 0.490 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 1.0 (probably damaging) |
1 | PTCHD3-S309Shift | homozygous | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
1 | RDH12-R161Q | het unknown | 0.076 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.941 (probably damaging), Testable gene in GeneTests with associated GeneReview |
1 | TTN-R32018H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
1 | TTN-R30395H | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
1 | TTN-R29962H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
1 | TTN-I29477T | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
1 | TTN-V28135M | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
1 | TTN-I26820T | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
1 | TTN-I25199V | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
1 | TTN-T24045M | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
1 | TTN-R22371C | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
1 | TTN-R21422H | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
1 | TTN-A19840P | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
1 | TTN-V19783I | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
1 | TTN-T18827I | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
1 | TTN-P17286L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
1 | TTN-R16903H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
1 | TTN-N16125D | homozygous | 0.469 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | TTN-G9378R | het unknown | 0.395 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | TTN-I9278V | homozygous | 0.450 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | TTN-I8474T | het unknown | 0.114 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | TTN-R8194Q | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
1 | TTN-P7650L | het unknown | 0.098 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | TTN-N7559S | het unknown | 0.231 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | TTN-S7181N | het unknown | 0.232 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | TTN-A7111E | homozygous | 0.421 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | TTN-E6900A | het unknown | 0.226 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | TTN-D6218H | het unknown | 0.233 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | TTN-A5710V | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | TTN-S5190N | het unknown | 0.058 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | TTN-S3419N | het unknown | 0.850 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | TTN-V3261M | het unknown | 0.840 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | TTN-K3154R | het unknown | 0.070 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | TTN-G2392S | het unknown | 0.060 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | TTN-S1295L | homozygous | 0.881 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | TTN-R328C | het unknown | 0.242 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | TTN-E190Shift | het unknown | 0.009 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview |
1 | TOR1A-D216H | het unknown | 0.089 | Unknown protective | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.205 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
1 | NPRL3-R536C | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
1 | NPRL3-L489Shift | homozygous | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
1 | F5-M1764V | homozygous | 0.273 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | F5-P1404S | het unknown | 0.077 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | F5-K925E | homozygous | 0.196 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | F5-H865R | homozygous | 0.238 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | F5-K858R | homozygous | 0.239 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | F5-Q534R | homozygous | 0.991 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | LOXL1-R141L | het unknown | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) | |
1 | GSTM1-K173N | homozygous | 1.000 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
1 | COL18A1-V144I | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
1 | COL18A1-A288T | het unknown | 0.177 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.017 (benign), Testable gene in GeneTests |
1 | COL18A1-T379M | het unknown | 0.325 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.969 (probably damaging), Testable gene in GeneTests |
1 | COL18A1-PGP1362Del | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
1 | VSIG10L-Q860Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | VSIG10L-R592Q | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
1 | VSIG10L-M356I | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
1 | VSIG10L-N3T | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
1 | PCSK1-S690T | het unknown | 0.218 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.061 (benign), Testable gene in GeneTests |
1 | PCSK1-Q665E | het unknown | 0.238 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
1 | PCSK1-N221D | het unknown | 0.020 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.006 (benign), Testable gene in GeneTests |
1 | PADI6-V343Shift | homozygous | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
1 | DGKK-L1014Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | SCARF2-A832G | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
1 | SCARF2-A814G | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
1 | SCARF2-DV772EL | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
1 | SCARF2-E764Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | SCARF2-P747Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | PRDM15-S1481P | homozygous | 0.995 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
1 | PRDM15-R88Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | ZNF480-C3Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | DEFB126-P106Shift | homozygous | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
1 | AX746964-G175Shift | homozygous | 0.034 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
1 | AX746964-K166I | homozygous | 0.628 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
1 | COL6A2-S399N | homozygous | 0.727 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | COL6A2-R680H | homozygous | 0.389 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview |
1 | ALG1L2-L157Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | AX746903-T82Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | ZNF761-L47Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | ZNF761-I122S | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
1 | ZNF761-V168I | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
1 | ZNF761-G528S | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
1 | ZNF761-E603Q | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
1 | KRTAP7-1-I61S | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
1 | KRTAP7-1-S51P | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
1 | KRTAP7-1-Y17Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | NR_027052-Q90* | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
1 | ZNF880-N106Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | ZNF880-N140NN | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
1 | ZNF880-R198S | homozygous | 0.354 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
1 | ZNF880-N202H | homozygous | 0.292 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
1 | ZNF880-Q406R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
1 | ZNF880-K471R | homozygous | 0.328 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
1 | ZNF880-H483Q | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
1 | ERCC2-K751Q | homozygous | 0.218 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | ERCC2-R666W | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
1 | ERCC2-D312N | homozygous | 0.145 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.032 (benign), Testable gene in GeneTests with associated GeneReview |
1 | TCEAL6-Q175Shift | homozygous | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
1 | FAM58A-G4Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 3 Frameshift, Testable gene in GeneTests | |
1 | APOE-L46P | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
1 | APOE-C130R | het unknown | 0.010 | Complex/Other pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests |
1 | SEPN1-C108Y | homozygous | 0.789 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | SEPN1-N467K | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.75 | AURKA-I57V | homozygous | 0.814 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.75 | AURKA-F31I | het unknown | 0.366 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.75 | MEFV-I591T | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.75 | MEFV-R202Q | het unknown | 0.111 | Recessive pathogenic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.019 (benign), Testable gene in GeneTests with associated GeneReview |
0.75 | BLMH-I443V | het unknown | 0.241 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.75 | EDN1-K198N | het unknown | 0.235 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.002 (benign) |
0.625 | MTRR-I49M | het unknown | 0.313 | Recessive pathogenic | Low clinical importance, likely | This common variant (HapMap allele frequency of 31.3%) in a protein involved in folate (B9) and cobalamin (B12) metabolism and is often reported as "MTRR I22M" (an alternative transcript position). Mothers homozygous for this variant are associated with having around a increased chance of a child with Down syndrome (risk of 0.4%, average risk in population is 0.25%). Notably, age plays a far larger role in the rate of Down syndrome (risk is 4.5% for a mother 45-years-of-age), and it is unknown how this variant may combine with the effect of age. There are conflicting reports associating this variant with incidence of neural tube defects, possibly when combined with MTHFR A222V. |
0.625 | MTRR-S202L | het unknown | 0.285 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.625 | MTRR-K377R | het unknown | 0.260 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.625 | MTRR-H622Y | het unknown | 0.218 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.625 | RSPH4A-L589P | het unknown | 0.707 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.625 | RSPH4A-W607Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview | |
0.5 | CDH12-I284V | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
0.5 | CDH12-V68M | het unknown | 0.403 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | HEXB-L62S | homozygous | 0.978 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | HEXB-I207V | homozygous | 0.139 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.119 (benign), Testable gene in GeneTests |
0.5 | KIAA1462-R957G | homozygous | 0.344 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.109 (benign) |
0.5 | KIAA1462-E24K | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.98 (probably damaging) |
0.5 | FAM105A-F319L | het unknown | 0.028 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.916 (probably damaging) |
0.5 | FAM134B-G80Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Frameshift, Testable gene in GeneTests | |
0.5 | FAM134B-L79P | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
0.5 | OPTN-K322E | homozygous | 0.986 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | TAF1L-M371V | het unknown | 0.038 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.991 (probably damaging) |
0.5 | CUBN-S2717W | homozygous | 0.998 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | CUBN-C2162Y | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | CUBN-L2153F | homozygous | 0.102 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | CUBN-P1559S | homozygous | 0.565 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | CUBN-P389T | het unknown | 0.513 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | CUBN-F253S | het unknown | 0.801 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | LRP2-I4210L | homozygous | 0.462 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.993 (probably damaging) |
0.5 | LRP2-K4094E | homozygous | 0.744 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.5 | LRP2-V3999G | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.5 | LRP2-A2872T | het unknown | 0.327 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.5 | LRP2-G259R | het unknown | 0.070 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
0.5 | PPYR1-V276M | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.889 (probably damaging) | |
0.5 | MCCC1-H464P | homozygous | 0.408 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | SCN1A-A1056T | homozygous | 0.806 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | CHAT-V461M | homozygous | 0.927 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | ABCB11-V444A | homozygous | 0.606 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | DNAI1-A8S | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | SHARPIN-R365H | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
0.5 | DNAH5-I4450V | homozygous | 0.481 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | DNAH5-A4134V | het unknown | 0.450 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | DNAH5-T3791I | het unknown | 0.053 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests with associated GeneReview |
0.5 | DNAH5-Q2463R | het unknown | 0.263 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests with associated GeneReview |
0.5 | DNAH5-T558A | homozygous | 0.395 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.791 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
0.5 | DNAH5-H12Q | homozygous | 0.896 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | NOTCH1-A1640P | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
0.5 | NOTCH1-E848K | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
0.5 | GPT-H14N | homozygous | 0.363 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | DOCK8-A22V | het unknown | 0.291 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.009 (benign), Testable gene in GeneTests |
0.5 | DOCK8-P97T | homozygous | 0.512 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests |
0.5 | DOCK8-A597V | het unknown | 0.034 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.96 (probably damaging), Testable gene in GeneTests |
0.5 | SVEP1-T3559M | het unknown | 0.144 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.964 (probably damaging) |
0.5 | SVEP1-E1810A | het unknown | 0.263 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.015 (benign) |
0.5 | SVEP1-K899R | het unknown | 0.178 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | SVEP1-I637V | het unknown | 0.044 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
0.5 | SVEP1-G332A | het unknown | 0.108 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.004 (benign) |
0.5 | AP3B1-V999M | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.5 | AP3B1-V585E | homozygous | 0.806 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | CPO-M85I | homozygous | 0.426 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.196 (benign), Testable gene in GeneTests |
0.5 | CPO-S134R | homozygous | 0.476 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | ABCA1-L1648V | het unknown | 0.043 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | ABCA1-K1587R | homozygous | 0.486 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | COL5A2-P833L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.5 | COL5A2-V512A | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.445 (possibly damaging), Testable gene in GeneTests with associated GeneReview | |
0.5 | ALS2-V368M | homozygous | 0.869 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | GLDC-A794T | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.5 | GLDC-R410S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.5 | COL3A1-H1353Q | homozygous | 0.990 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | SETX-I1386V | homozygous | 0.494 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | SETX-G1252R | homozygous | 0.494 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | SETX-D1192E | homozygous | 0.598 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | CD72-V50L | het unknown | 0.012 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.289 (possibly damaging) |
0.5 | AK094914-K152N | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.5 | AK094914-T33Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.5 | AK094914-C16Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.5 | AK094914-A13Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.5 | POMT1-D411E | het unknown | 0.025 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | KIF24-W218L | het unknown | 0.050 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
0.5 | KIF24-M140V | het unknown | 0.347 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.091 (benign) |
0.5 | DFNB31-N796K | het unknown | 0.197 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | DFNB31-V783A | het unknown | 0.405 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | DFNB31-H752Q | homozygous | 0.983 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | DFNB31-M613T | het unknown | 0.487 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | DFNB31-P562A | het unknown | 0.036 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | DFNB31-A440T | het unknown | 0.197 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | DFNB31-R364H | homozygous | 0.968 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | CDK5RAP2-V1540L | homozygous | 0.714 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | CDK5RAP2-E289Q | homozygous | 0.801 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | RECQL4-R1021Q | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.5 | RECQL4-R1005Q | homozygous | 0.258 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | RECQL4-R766Shift | homozygous | 0.278 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Frameshift, Testable gene in GeneTests with associated GeneReview |
0.5 | RECQL4-E267D | homozygous | 0.471 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | RECQL4-S92P | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | LCT-N1639S | het unknown | 0.383 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | LCT-I362V | homozygous | 0.944 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | LCT-V219I | het unknown | 0.426 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | TTLL10-C97R | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.5 | TTLL10-V249A | het unknown | 0.009 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
0.5 | TTLL10-G578D | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.257 (possibly damaging) | |
0.5 | VPS37C-Y342C | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.5 | VPS37C-L198S | het unknown | 0.849 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | VPS37C-V182D | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.243 (possibly damaging) |
0.5 | VPS37C-T8N | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.985 (probably damaging) |
0.5 | ROM1-G118A | homozygous | 0.931 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.008 (benign), Testable gene in GeneTests |
0.5 | STX5-R121C | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
0.5 | IDUA-H33Q | homozygous | 0.750 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | UGT2B15-K523T | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.5 | UGT2B15-Y85D | homozygous | 0.500 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | CPN2-Q509R | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
0.5 | CPN2-Q509R | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
0.5 | HADH-L86P | homozygous | 0.859 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | MANBA-T701M | homozygous | 0.554 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | PEX16-V116I | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | MTTP-I128T | het unknown | 0.250 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | MTTP-H297Q | het unknown | 0.636 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | MTTP-G661S | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | MEN1-T546A | homozygous | 0.791 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | SCYL1-D633Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.5 | SCYL1-A635Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.5 | TRIM64-I58T | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.5 | TRIM64-R162S | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown | |
0.5 | TRIM64-V238M | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.5 | TRIM64-E242V | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.5 | TRIM64-Q358R | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.5 | TRIM64-Q405R | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown | |
0.5 | TRPC6-P15S | het unknown | 0.069 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | ATM-F858L | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | ATM-P1054R | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | ATM-N1983S | homozygous | 0.991 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | KDELC2-P144L | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
0.5 | ALK-D1529E | homozygous | 0.606 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | ALK-K1491R | homozygous | 0.405 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | ALK-I1461V | homozygous | 0.982 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | EVC-Y258H | het unknown | 0.721 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests |
0.5 | EVC-T449K | homozygous | 0.871 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | AIP-Q228K | homozygous | 0.732 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | AIP-Q307R | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | NR_027251-H75Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.5 | TLR6-S249P | homozygous | 0.855 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | WFS1-V333I | het unknown | 0.889 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | WFS1-R611H | het unknown | 0.442 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests with associated GeneReview |
0.5 | HTT-T994R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.5 | HTT-I1091M | het unknown | 0.029 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | HTT-Y2309H | het unknown | 0.459 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | HTT-V2786I | het unknown | 0.193 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | CFI-T300A | homozygous | 0.957 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | SLC6A5-F124S | het unknown | 0.803 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | SLC6A5-A162G | homozygous | 0.997 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | SLC6A5-K457N | het unknown | 0.065 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.051 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | SLC6A5-D463N | het unknown | 0.177 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.122 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | CFC1-W78R | homozygous | 0.966 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | BBS12-R386Q | homozygous | 0.515 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | BBS12-D467N | het unknown | 0.094 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | COL17A1-M703V | homozygous | 0.672 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | COL17A1-G428S | homozygous | 0.771 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | COL17A1-T210M | het unknown | 0.557 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | HABP2-T50M | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
0.5 | RTP1-R174C | het unknown | 0.024 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
0.5 | RTP1-Q229E | het unknown | 0.349 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | RAB3GAP1-N598S | homozygous | 0.207 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | SLC29A3-R18G | het unknown | 0.486 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | SLC29A3-S158F | homozygous | 0.453 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | SLC29A3-V239I | homozygous | 0.771 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | SLC29A3-I326V | homozygous | 0.824 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | AGA-A251E | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
0.5 | AGA-T250A | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
0.5 | AGA-T149S | homozygous | 0.925 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | CDH23-N1349D | homozygous | 0.772 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | CDH23-A1572T | homozygous | 0.720 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | CDH23-R1801Q | het unknown | 0.172 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | CDH23-E2041K | homozygous | 0.344 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | CDH23-R2355Q | homozygous | 0.349 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | CDH23-P2377L | homozygous | 0.338 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | CDH23-F3122L | het unknown | 0.055 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | NEB-A6277P | het unknown | 0.691 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | NEB-D5621A | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.5 | NEB-V5619E | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.5 | NEB-D5573N | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | NEB-R4389T | het unknown | 0.724 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | NEB-V1491M | homozygous | 0.453 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | NEB-Y1301H | homozygous | 0.668 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | NEB-K1027N | homozygous | 0.476 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | CLCN2-T668S | homozygous | 0.378 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | RGPD4-D761G | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown | |
0.5 | RGPD4-P1302L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.5 | RGPD4-T1410R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.5 | FANK1-L329V | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.884 (probably damaging) |
0.5 | INSC-D333N | het unknown | 0.007 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.985 (probably damaging) |
0.5 | PITX2-A188T | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.5 | ABCC8-A1369S | homozygous | 0.755 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | DYSF-R1040Q | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.5 | DYSF-R1349L | het unknown | 0.009 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | ALMS1-S524SP | homozygous | 0.578 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | ALMS1-V671G | homozygous | 0.857 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | ALMS1-R4029K | homozygous | 0.527 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | SYNPO2-R147Del | het unknown | 0.273 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | SYNPO2-T573A | het unknown | 0.829 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | SYNPO2-R1009W | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.986 (probably damaging) |
0.5 | RNH1-P170L | het unknown | 0.062 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.881 (probably damaging) |
0.5 | LRDD-R652W | het unknown | 0.017 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
0.5 | EIF2AK3-S136C | homozygous | 0.285 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | TRPM5-G900S | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.5 | TRPM5-V335L | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.98 (probably damaging) |
0.5 | TRPM5-V254A | homozygous | 0.794 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | SLC4A5-V1106I | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.25 (possibly damaging), Testable gene in GeneTests |
0.5 | VCAN-G428D | homozygous | 0.215 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.923 (probably damaging), Testable gene in GeneTests with associated GeneReview |
0.5 | PLEC-V4440M | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.5 | PLEC-R2969H | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.5 | PLEC-S2791P | het unknown | 0.272 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | PLEC-A2194V | het unknown | 0.210 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | PLEC-H1459R | het unknown | 0.512 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | PLEC-R1386Q | het unknown | 0.276 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | PLEC-A641V | het unknown | 0.210 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | SLC22A16-V252A | homozygous | 0.086 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.609 (possibly damaging) |
0.5 | SLC22A16-H49R | homozygous | 0.333 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | LAMA4-G1117S | homozygous | 0.818 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | LAMA4-Y498H | homozygous | 0.762 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | LAMA4-A283D | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | LAMA4-R154W | het unknown | 0.024 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging) |
0.5 | GPRC6A-S924L | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.992 (probably damaging) |
0.5 | GPRC6A-Y775LP | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.5 | GPRC6A-G773GR | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.5 | GPRC6A-P91S | homozygous | 0.689 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.002 (benign) |
0.5 | GPRC6A-R57* | het unknown | 0.060 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Nonsense mutation |
0.5 | ADAM19-P834A | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.5 | ADAM19-S740A | het unknown | 0.146 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | ADAM19-S284G | homozygous | 0.438 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | ADAM19-G4S | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
0.5 | CCRL2-Y4C | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.997 (probably damaging) | |
0.5 | CCRL2-F167Y | het unknown | 0.320 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.955 (probably damaging) |
0.5 | CCRL2-I243V | het unknown | 0.070 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.206 (possibly damaging) |
0.5 | AIM1-Q293P | homozygous | 0.181 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | AIM1-E1196A | homozygous | 0.935 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.015 (benign) |
0.5 | AIM1-C1395Y | homozygous | 0.243 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.958 (probably damaging) |
0.5 | IL12B-V298F | het unknown | 0.002 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.84 (possibly damaging), Testable gene in GeneTests |
0.5 | LMBRD1-D469E | homozygous | 0.393 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | MAP4-V628I | het unknown | 0.372 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.92 (probably damaging) |
0.5 | MAP4-E441Q | het unknown | 0.046 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.931 (probably damaging) |
0.5 | MAP4-S427Y | het unknown | 0.220 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.003 (benign) |
0.5 | MAP4-R23Q | het unknown | 0.050 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
0.5 | CASP8AP2-T1567Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.5 | CASP8AP2-S1568Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.5 | ROS1-S2229C | homozygous | 0.005 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.5 | ROS1-K2228Q | homozygous | 0.140 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | ROS1-D2213N | homozygous | 0.135 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.003 (benign) |
0.5 | ROS1-R167Q | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.983 (probably damaging) |
0.5 | SGCD-R96Q | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | XPC-Q939K | homozygous | 0.683 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | XPC-A499V | homozygous | 0.188 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | XPC-L48F | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.5 | PMS2-K541E | homozygous | 0.904 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | PMS2-P470S | het unknown | Unknown benign | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview | |
0.5 | DNAH11-E34L | homozygous | 0.335 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | DNAH11-T1038A | het unknown | 0.747 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | DNAH11-N2641S | het unknown | 0.367 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | DNAH11-A3474T | het unknown | 0.501 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | DNAH11-V3715L | homozygous | 0.452 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | DNAH11-M4172V | homozygous | 0.334 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | HOXA1-R73H | homozygous | 0.743 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | SLC36A3-R190H | het unknown | 0.021 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.371 (possibly damaging) |
0.5 | SLC36A3-K167E | het unknown | 0.583 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | KIF4B-R580L | homozygous | 0.685 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | KIF4B-I834Shift | het unknown | 0.041 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
0.5 | BCLAF1-S209C | het unknown | 0.004 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.96 (probably damaging) |
0.5 | BCLAF1-G66A | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | BCLAF1-R45M | het unknown | 0.040 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.5 | SYNE1-T8687I | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | SYNE1-G8323A | het unknown | 0.310 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | SYNE1-F7302V | homozygous | 0.991 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | SYNE1-L5015M | het unknown | 0.866 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | SYNE1-S4596T | het unknown | 0.800 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | SYNE1-K4121R | het unknown | 0.835 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | SYNE1-E4060D | homozygous | 0.539 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | SLC22A2-S270A | homozygous | 0.876 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | CAPN7-A128T | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
0.5 | EYS-R2326Q | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
0.5 | EYS-N1902I | het unknown | 0.316 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | EYS-L1419S | homozygous | 0.780 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | EYS-L852P | homozygous | 0.655 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | EYS-E641V | het unknown | 0.112 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | EYS-G631S | het unknown | 0.596 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | EYS-Q571R | het unknown | 0.108 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | EFHC1-R182H | het unknown | 0.038 | Unknown benign | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.038 (benign), Testable gene in GeneTests |
0.5 | HSPA1L-E602K | het unknown | 0.225 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
0.5 | HSPA1L-T493M | homozygous | 0.868 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
0.5 | TNXB-G2518E | homozygous | 0.658 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | TNXB-H1161R | het unknown | 0.568 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | GBE1-I334V | homozygous | 0.979 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | GBE1-R190G | het unknown | 0.321 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.025 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | FLT4-R1146H | het unknown | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | FLT4-H890Q | het unknown | 0.355 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.714 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
0.5 | FLT4-N149D | het unknown | 0.023 | Unknown benign | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.358 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
0.5 | MDC1-R1883Q | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.997 (probably damaging) |
0.5 | DRD3-G9S | homozygous | 0.482 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.5 | RETNLB-P20L | het unknown | 0.154 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.987 (probably damaging) |
0.5 | RETNLB-L14Shift | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
0.5 | GPX6-Y72N | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown | |
0.5 | GPX6-F13L | het unknown | 0.544 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | HLA-H-D29A | het unknown | 0.071 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | HLA-H-P32Q | het unknown | 0.060 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | HLA-H-E34M | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.5 | HLA-H-Q61R | het unknown | 0.288 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | HLA-H-V92L | het unknown | 0.135 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | HLA-H-L145R | het unknown | 0.293 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | HLA-H-A147V | het unknown | 0.278 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | HLA-H-C238S | homozygous | 0.729 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | NR_015394-G45W | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.5 | NR_015394-F74S | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.5 | NR_015394-T113Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.5 | COL11A2-P1316T | het unknown | 0.072 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | TULP1-K261N | homozygous | 0.805 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | TULP1-I259T | het unknown | 0.344 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | TULP1-T67R | homozygous | 0.877 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | MUT-I671V | homozygous | 0.522 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | F12-A207P | homozygous | 0.951 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | PKHD1-Q4048R | homozygous | 0.566 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | PKHD1-Q3899R | homozygous | 0.546 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | PKHD1-L1870V | homozygous | 0.905 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | PKHD1-A1262V | het unknown | 0.239 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | PKHD1-R760C | het unknown | 0.318 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | MSX2-M129T | homozygous | 0.716 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | PROP1-N20S | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | HGD-Q80H | homozygous | 0.742 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | BC040901-C89W | het unknown | 0.706 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | BC040901-P93S | het unknown | 0.548 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | BC040901-A106Shift | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
0.5 | KIF6-W719R | homozygous | 0.538 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.01 (benign) |
0.5 | KIF6-R551K | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
0.5 | MOCS1-R339W | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
0.5 | MOCS1-E285K | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
0.5 | PRPH2-D338G | homozygous | 0.761 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | PRPH2-R310K | homozygous | 0.943 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | PRPH2-Q304E | homozygous | 0.877 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | GARS-P42A | homozygous | 0.654 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | INMT-D28N | het unknown | 0.233 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | INMT-M205V | het unknown | 0.208 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 1.0 (probably damaging) |
0.5 | INMT-F254C | homozygous | 0.757 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.999 (probably damaging) |
0.5 | INMT-R258H | het unknown | 0.049 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
0.5 | NAT2-R197Q | het unknown | 0.272 | Recessive pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | NAT2-R268K | homozygous | 0.675 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | LPL-S474* | het unknown | 0.096 | Unknown protective | Insufficiently evaluated | Prioritization score: 4 Nonsense mutation, Testable gene in GeneTests with associated GeneReview |
0.5 | COL4A4-S1400P | het unknown | 0.504 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | COL4A4-V1327M | het unknown | 0.464 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | COL4A4-P1004L | het unknown | 0.528 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | COL4A4-P482S | homozygous | 0.493 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | OBSL1-R1767Q | het unknown | 0.491 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | OBSL1-Q1578R | homozygous | 0.968 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | OBSL1-E1365D | het unknown | 0.723 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | OBSL1-R723K | homozygous | 0.770 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | ASAH1-V246A | homozygous | 0.797 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | ASAH1-I93V | homozygous | 0.384 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | ASAH1-V72M | homozygous | 0.386 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | MCPH1-R171S | homozygous | 0.865 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | MCPH1-D314H | homozygous | 0.648 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.136 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | MCPH1-D392G | homozygous | 0.979 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | MCPH1-A761V | het unknown | 0.504 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | ABP1-T16M | het unknown | 0.315 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | ABP1-S332F | het unknown | 0.050 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (probably damaging) |
0.5 | ABP1-T592S | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | ABP1-H645D | homozygous | 0.520 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.012 (benign) |
0.5 | FBN2-V965I | homozygous | 0.714 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | BCHE-A567T | het unknown | 0.138 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | BCHE-E283D | het unknown | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | NOS3-D298E | homozygous | 0.844 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.5 | PRKDC-L1243Shift | homozygous | 0.156 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Frameshift |
0.5 | PRKDC-M333I | het unknown | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
0.5 | ABCA12-S777T | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | ARSB-S384N | het unknown | 0.026 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.171 (benign), Testable gene in GeneTests |
0.5 | KLHL38-C504Y | het unknown | 0.045 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging) |
0.5 | KLHL38-R346K | homozygous | 0.719 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | KLHL38-I334V | homozygous | 0.734 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
0.5 | KLHL38-H98R | homozygous | 0.786 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.016 (benign) |
0.5 | TG-S734A | het unknown | 0.698 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | TG-M1028V | het unknown | 0.696 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.003 (benign), Testable gene in GeneTests |
0.5 | TG-D1312G | homozygous | 0.344 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | TG-D1838N | het unknown | 0.304 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.061 (benign), Testable gene in GeneTests |
0.5 | TG-W2501R | het unknown | 0.566 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.031 (benign), Testable gene in GeneTests |
0.5 | FAM83H-G902E | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.913 (probably damaging) |
0.5 | FAM83H-P498L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.5 | FAM83H-Q201H | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | GRHL2-K9R | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
0.5 | CPS1-T344A | homozygous | 0.583 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.302 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
0.5 | GPR98-L1093F | homozygous | 0.835 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | GPR98-V1951I | homozygous | 0.820 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | GPR98-P1987L | het unknown | 0.333 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.366 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
0.5 | GPR98-Y2232C | het unknown | 0.349 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.989 (probably damaging), Testable gene in GeneTests with associated GeneReview |
0.5 | GPR98-N2345S | het unknown | 0.304 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview |
0.5 | GPR98-N2584S | homozygous | 0.825 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | GPR98-V3094I | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | GPR98-E3471K | homozygous | 0.834 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | GPR98-E3867K | homozygous | 0.356 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | GPR98-E5344G | homozygous | 0.903 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | GPR98-V5427M | homozygous | 0.918 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | GPR98-V5876I | homozygous | 0.424 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.94 (probably damaging), Testable gene in GeneTests with associated GeneReview |
0.5 | PEX2-C184R | homozygous | 0.990 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | NHLRC1-P111L | het unknown | 0.250 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.992 (probably damaging), Testable gene in GeneTests with associated GeneReview |
0.5 | CNGB3-T298P | homozygous | 0.681 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.007 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | CNGB3-C234W | homozygous | 0.939 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | COL4A3-G43R | het unknown | 0.239 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | COL4A3-L141P | homozygous | 0.760 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | COL4A3-E162G | homozygous | 0.764 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | COL4A3-P574L | het unknown | 0.358 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | CLCN1-G118W | homozygous | 0.995 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | AKAP9-M463I | het unknown | 0.376 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | AKAP9-K1335KQ | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
0.5 | AKAP9-N2792S | het unknown | 0.271 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | COL1A2-P549A | homozygous | 0.907 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | ADRB2-G16R | het unknown | 0.477 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
0.5 | ADRB2-E27Q | het unknown | 0.773 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
0.5 | CYP3A7-R409T | homozygous | 0.669 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | CYP3A7-R161L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.5 | SLC26A2-I574T | homozygous | 0.994 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | SLC26A2-T689S | het unknown | 0.163 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | ELN-G422S | homozygous | 0.225 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | TXNDC3-R43K | het unknown | 0.291 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | TXNDC3-C208R | homozygous | 0.740 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | DDC-M17V | homozygous | 0.979 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | EGFR-R521K | het unknown | 0.259 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | CASR-E1011Q | homozygous | 0.916 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | AK097289-V20L | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | AK097289-F90Shift | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
0.5 | DPY19L2P2-H375Y | het unknown | 0.133 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | DPY19L2P2-N333I | het unknown | 0.123 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | DPY19L2P2-D279N | het unknown | 0.095 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | DPY19L2P2-M120Shift | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
0.5 | SHROOM1-P180L | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.976 (probably damaging) | |
0.5 | ATP6V0A4-V2A | homozygous | 0.680 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | IL13-Q144R | homozygous | 0.766 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | SLC22A4-I306T | homozygous | 0.588 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
0.5 | SLC22A4-L503F | homozygous | 0.142 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | CDC25C-G297R | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) | |
0.5 | SLC41A3-L501Shift | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
0.5 | SLC41A3-T62A | homozygous | 0.982 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | ARAP3-T1428P | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
0.5 | SLC25A2-Y44Shift | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
0.5 | COL6A3-A3012P | het unknown | 0.843 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | COL6A3-D2831H | het unknown | 0.047 | Unknown benign | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | ASB15-P57L | homozygous | 0.747 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | ASB15-D241Shift | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
0.5 | ASB15-G357A | homozygous | 0.765 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | BEST3-Y43H | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging) |
0.5 | CTNS-T260I | homozygous | 0.825 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | CTNS-P380A | het unknown | 0.203 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | FASN-V1483I | het unknown | 0.027 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
0.5 | LAMA3-P1208T | het unknown | 0.042 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | LAMA3-S2834G | homozygous | 0.993 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | DSC2-R798Q | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.433 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
0.5 | DSG4-P523L | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) | |
0.5 | DSG4-I644L | homozygous | 0.954 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.5 | LEPR-K656N | het unknown | 0.098 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.454 (possibly damaging), Testable gene in GeneTests |
0.5 | CARD14-G144E | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.5 | CARD14-Q145L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.5 | CARD14-Y205H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.5 | CARD14-R547S | het unknown | 0.418 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | CARD14-M752Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.5 | CARD14-R820W | het unknown | 0.381 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.854 (probably damaging) |
0.5 | ITGB4-L1779P | homozygous | 0.486 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | UNC13D-K867E | homozygous | 0.596 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | RNF157-G208R | het unknown | 0.027 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.859 (probably damaging) |
0.5 | GAA-D91N | het unknown | 0.008 | Recessive benign | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | GAA-H199R | homozygous | 0.574 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | GAA-R223H | homozygous | 0.606 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | GAA-V780I | homozygous | 0.720 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | ENGASE-R321H | het unknown | 0.043 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.989 (probably damaging) |
0.5 | ENGASE-S596N | het unknown | 0.080 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
0.5 | MYO5B-L1055LL | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
0.5 | MYO5B-T126A | homozygous | 0.945 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | ACOT11-R20H | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.938 (probably damaging) |
0.5 | ZSWIM4-M616V | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.974 (probably damaging) | |
0.5 | ZSWIM4-R694H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.5 | ZSWIM4-N710H | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.007 (benign) | |
0.5 | POMGNT1-M623V | homozygous | 0.878 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | ZNF792-N425D | het unknown | 0.037 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.968 (probably damaging) |
0.5 | ZNF792-R177Q | homozygous | 0.715 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | HAUS5-Q580R | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.99 (probably damaging) |
0.5 | FAM187B-W231* | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
0.5 | FAM187B-V216I | het unknown | 0.177 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
0.5 | FAM187B-W188* | het unknown | 0.277 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Nonsense mutation |
0.5 | FAM187B-C160R | homozygous | 0.462 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | FAM187B-P3S | het unknown | 0.154 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.076 (benign) |
0.5 | MAN2B1-R337Q | homozygous | 0.237 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.027 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | MAN2B1-T312I | homozygous | 0.324 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.045 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | MAN2B1-L278V | homozygous | 0.236 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | TSPAN16-S233Shift | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
0.5 | CTDP1-S61A | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.5 | ZNF57-S56A | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.937 (probably damaging) |
0.5 | ZNF57-T223N | homozygous | 0.448 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.654 (possibly damaging) |
0.5 | ZFR2-R521C | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
0.5 | ZFR2-V183M | het unknown | 0.230 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
0.5 | ADAMTS10-H1101Q | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | ADAMTS10-T134S | het unknown | 0.910 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | CPT2-V368I | homozygous | 0.477 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | MIF4GD-R128Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.5 | MIF4GD-Q126Shift | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
0.5 | DNAI2-A558T | homozygous | 0.674 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | UNC45B-I852N | het unknown | 0.010 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.992 (probably damaging) |
0.5 | SLFN14-Y912F | het unknown | 0.279 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | SLFN14-Y770F | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.914 (probably damaging) |
0.5 | SLFN14-K385E | het unknown | 0.648 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | SLFN14-P356S | het unknown | 0.650 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | KRT10-H487Y | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
0.5 | KRT10-I101S | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | KRT10-GGG22Del | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
0.5 | DPAGT1-I393V | homozygous | 0.431 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | EPS8L3-H294Y | het unknown | 0.436 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | EPS8L3-G164S | het unknown | 0.369 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | EPS8L3-M35I | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.991 (probably damaging) |
0.5 | OVGP1-E676Q | het unknown | 0.652 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | OVGP1-M479V | het unknown | 0.148 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.963 (probably damaging) |
0.5 | OVGP1-M477T | het unknown | 0.664 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.002 (benign) |
0.5 | OVGP1-D332E | het unknown | 0.075 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
0.5 | CHRNE-G18V | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | KIF1C-P700L | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.992 (probably damaging) |
0.5 | PTPN22-W620R | homozygous | 0.970 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | RAI1-G90A | het unknown | 0.281 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | RAI1-P165T | het unknown | 0.542 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview |
0.5 | MYH8-W1692R | het unknown | 0.481 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | MYH8-Q1601K | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
0.5 | MYH8-A636V | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | JUP-M697L | homozygous | 0.520 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | FNDC7-I146V | het unknown | 0.041 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
0.5 | FNDC7-R224L | het unknown | 0.564 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | FNDC7-S309N | het unknown | 0.185 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | FNDC7-V353A | het unknown | 0.600 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | EPN3-R170H | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.933 (probably damaging) |
0.5 | EPN3-P544T | homozygous | 0.364 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | RNF43-L418M | het unknown | 0.410 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.06 (benign) |
0.5 | RNF43-R343H | het unknown | 0.070 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
0.5 | RNF43-R117H | het unknown | 0.222 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.982 (probably damaging) |
0.5 | SEPT4-E311V | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.856 (probably damaging) |
0.5 | CACNG1-G196S | het unknown | 0.074 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.992 (probably damaging) |
0.5 | SCN4A-N1376D | homozygous | 0.604 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | SCN4A-S524G | homozygous | 0.938 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | DBT-N473S | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | DBT-S384G | homozygous | 0.869 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | GNGT2-Q17R | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging) |
0.5 | ADAM11-R141* | het unknown | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
0.5 | GOSR2-P3T | het unknown | 0.021 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
0.5 | GOSR2-R67K | het unknown | 0.334 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | CDC27-R631* | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
0.5 | CDC27-A274D | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.5 | CDC27-A273G | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.257 (possibly damaging) | |
0.5 | SCRN2-Q330R | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
0.5 | SCRN2-M323V | homozygous | 0.988 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | COL11A1-S1547P | het unknown | 0.752 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | COL11A1-K276N | het unknown | 0.086 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | GGN-Q647* | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Nonsense mutation |
0.5 | PRX-G1132R | homozygous | 0.978 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | PRX-I921M | het unknown | 0.261 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | PRX-V882A | het unknown | 0.493 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.014 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | CSF2RB-P603T | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
0.5 | FAM83F-G353S | het unknown | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.5 | FAM83F-R436G | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.939 (probably damaging) | |
0.5 | ST13-M297I | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.914 (probably damaging) | |
0.5 | ARHGEF19-P460L | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
0.5 | HPS4-Q620H | homozygous | 0.806 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.859 (probably damaging), Testable gene in GeneTests with associated GeneReview |
0.5 | HPS4-H601Y | homozygous | 0.807 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | HPS4-V547M | homozygous | 0.780 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | HPS4-L438V | het unknown | 0.344 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | HPS4-E224G | homozygous | 0.779 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | PPIL2-P335T | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.936 (probably damaging) |
0.5 | CROCC-R7G | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | CROCC-Q302E | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.956 (probably damaging) |
0.5 | CROCC-D463Y | het unknown | 0.045 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.987 (probably damaging) |
0.5 | CROCC-R691H | het unknown | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.873 (probably damaging) |
0.5 | CROCC-T824M | het unknown | 0.041 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.351 (possibly damaging) |
0.5 | CROCC-R903S | het unknown | 0.045 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
0.5 | FTCD-A438V | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | PCNT-G136S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
0.5 | PCNT-R143H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
0.5 | PCNT-G704E | homozygous | 0.855 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | PCNT-V1038A | homozygous | 0.847 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | PCNT-Q2659H | het unknown | 0.572 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.849 (possibly damaging), Testable gene in GeneTests |
0.5 | PCNT-Q2792R | het unknown | 0.732 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.006 (benign), Testable gene in GeneTests |
0.5 | PCNT-A2903T | het unknown | 0.056 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.085 (benign), Testable gene in GeneTests |
0.5 | SPATA21-K361KK | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.5 | SPATA21-P119L | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.996 (probably damaging) |
0.5 | PRODH-R521Q | homozygous | 0.887 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | PRODH-W185R | homozygous | 0.826 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | PRODH-P19Q | homozygous | 0.562 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | TUBGCP6-R1763W | het unknown | 0.020 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.992 (probably damaging) |
0.5 | TUBGCP6-V1621L | homozygous | 0.998 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | TUBGCP6-T1377A | het unknown | 0.408 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.003 (benign) |
0.5 | TUBGCP6-S1364C | het unknown | 0.163 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.012 (benign) |
0.5 | TUBGCP6-L567S | homozygous | 0.860 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.012 (benign) |
0.5 | SCO2-R20P | homozygous | 0.690 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | MTHFR-E429A | het unknown | 0.243 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.099 (benign), Testable gene in GeneTests |
0.5 | ATP7A-V767L | het unknown | 0.332 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | ATP7A-E1350K | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | H2BFM-Q73* | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
0.5 | TAS1R1-A110V | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.555 (possibly damaging) |
0.5 | TAS1R1-K347E | homozygous | 0.910 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | TAS1R1-R507Q | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.414 (possibly damaging) | |
0.5 | ZBTB48-S675A | het unknown | 0.026 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.711 (possibly damaging) |
0.5 | PRAMEF2-R33S | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
0.5 | PRAMEF2-V67G | het unknown | 0.185 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | PRAMEF2-T72R | het unknown | 0.089 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.991 (probably damaging) |
0.5 | PRAMEF2-L73F | het unknown | 0.093 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.481 (possibly damaging) |
0.5 | RPGR-E963EEE | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
0.5 | RPGR-W955G | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
0.5 | RPGR-A781T | homozygous | 0.120 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | CLCNKB-R27L | homozygous | 0.994 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | CLCNKB-A214G | homozygous | 0.815 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | CLCNKB-A287V | homozygous | 0.820 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | CLCNKB-M562T | homozygous | 0.856 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | CLCNKB-K578E | homozygous | 0.748 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | CLCNKA-R83G | homozygous | 0.653 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | CLCNKA-A447T | homozygous | 0.688 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | ASMTL-H528R | het unknown | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
0.5 | ASMTL-V458M | het unknown | 0.214 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.098 (benign) |
0.5 | ASMTL-G434S | het unknown | 0.153 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | ASMTL-Y364H | het unknown | 0.092 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.014 (benign) |
0.5 | ASMTL-S228P | het unknown | 0.092 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.003 (benign) |
0.5 | DMD-R2937Q | homozygous | 0.899 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | DMD-D882G | het unknown | 0.727 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | MAGEB6-R98H | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.766 (possibly damaging) | |
0.5 | MAGEB6-A100V | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.012 (benign) | |
0.5 | ATP13A2-VV467DL | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
0.5 | ATP13A2-T466Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Frameshift, Testable gene in GeneTests | |
0.5 | ITGB2-Q354H | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.543 (possibly damaging), Testable gene in GeneTests |
0.5 | LILRB3-R465L | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
0.5 | LILRB3-N252D | homozygous | 0.963 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | LILRB3-M115L | homozygous | 0.950 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | LILRB3-E90Q | het unknown | 0.419 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | LILRB3-M88I | het unknown | 0.465 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.164 (benign) |
0.5 | KIR3DL3-N56K | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.5 | KIR3DL3-R149S | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown | |
0.5 | KIR3DL3-V168I | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.5 | KIR3DL3-N290T | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.5 | KIR3DL3-H321N | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.5 | NLRP7-A481T | het unknown | 0.090 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
0.5 | NLRP7-V319I | het unknown | 0.306 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
0.5 | NLRP2-T221M | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
0.5 | NLRP2-T529A | het unknown | 0.125 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | NLRP2-A1052E | het unknown | 0.359 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.003 (benign) |
0.5 | FPR1-E346A | het unknown | 0.800 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | FPR1-N192K | het unknown | 0.516 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | FPR1-I11T | homozygous | 0.831 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | DHDH-S66N | het unknown | 0.545 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | DHDH-A173Shift | het unknown | 0.009 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
0.5 | DHDH-V247A | het unknown | 0.473 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | DHDH-E294Shift | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
0.5 | CYP2F1-Q266H | het unknown | 0.267 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | CYP2F1-P490L | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown | |
0.5 | SIX5-V693M | het unknown | 0.261 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.086 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | SIX5-P635S | het unknown | 0.533 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.891 (probably damaging), Testable gene in GeneTests with associated GeneReview |
0.5 | SIX5-L556V | homozygous | 0.833 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | TMEM160-G120S | het unknown | 0.068 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.866 (probably damaging) |
0.5 | BCAT2-T186R | het unknown | 0.066 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.548 (possibly damaging), Testable gene in GeneTests |
0.5 | CCDC114-R46W | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) | |
0.5 | ZNF749-T744Shift | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
0.5 | ZNF749-I771R | homozygous | 0.702 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | AK094748-Q220* | het unknown | 0.017 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
0.5 | RHD-G263R | het unknown | 0.025 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.021 (benign) |
0.5 | RHD-K267M | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown | |
0.5 | RHD-M379T | homozygous | 0.956 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.5 | SALL4-L507R | homozygous | 0.328 | Dominant not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.125 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | PCK1-V184L | homozygous | 0.856 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | HSPG2-R3632Q | het unknown | 0.080 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | HSPG2-A3168T | het unknown | 0.119 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | HSPG2-S2995G | het unknown | 0.081 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | HSPG2-L2980H | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | HSPG2-G2225S | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | HSPG2-V1967I | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | HSPG2-A1503V | het unknown | 0.777 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | HSPG2-N765S | homozygous | 0.896 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | HSPG2-M638V | homozygous | 0.978 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | COL9A3-G17E | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.5 | COL9A3-PPG39Del | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.5 | COL9A3-A435E | het unknown | 0.218 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.568 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
0.5 | ABHD12-A349T | het unknown | 0.028 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.453 (possibly damaging) |
0.5 | CRNKL1-T158A | het unknown | 0.499 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | CRNKL1-Q111H | het unknown | 0.709 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
0.5 | CRNKL1-R52W | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.854 (probably damaging) |
0.5 | CRNKL1-F51L | het unknown | 0.490 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.497 (possibly damaging) |
0.5 | CRNKL1-G35R | het unknown | 0.297 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | SDCBP2-R223C | het unknown | 0.127 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 1.0 (probably damaging) |
0.5 | SDCBP2-R191Q | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.992 (probably damaging) |
0.5 | SDCBP2-V182M | homozygous | 0.352 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | SIRPB1-A363P | het unknown | 0.839 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | SIRPB1-I229M | het unknown | 0.848 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | SIRPB1-R53H | het unknown | 0.033 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
0.5 | SIRPB1-R23G | het unknown | 0.242 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | PANK2-G126A | homozygous | 0.917 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | RIN2-G29R | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.963 (probably damaging) |
0.5 | FERMT1-R526K | het unknown | 0.468 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | FERMT1-R255C | het unknown | 0.069 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests |
0.5 | FERMT1-I160T | het unknown | 0.106 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.004 (benign), Testable gene in GeneTests |
0.5 | KRT14-A94T | homozygous | 0.269 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | KRT14-C63Y | homozygous | 0.976 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | OCA2-R305W | het unknown | 0.094 | Unknown benign | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests with associated GeneReview |
0.5 | ABCC4-K304N | het unknown | 0.129 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | ABCC4-G187W | het unknown | 0.070 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.5 | USH2A-M3868V | het unknown | 0.131 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | USH2A-E3411A | homozygous | 0.638 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | USH2A-I2169T | het unknown | 0.575 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | USH2A-I2106T | homozygous | 0.629 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | USH2A-I1665T | het unknown | 0.052 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.3 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
0.5 | USH2A-R1486K | het unknown | 0.646 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.063 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | USH2A-D644V | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.137 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | USH2A-A125T | het unknown | 0.777 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | COL4A1-T555P | homozygous | 0.994 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | COL4A1-V7L | het unknown | 0.211 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | CACNA1S-R1539C | het unknown | 0.073 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | CLN5-R2C | het unknown | 0.158 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | CLN5-N242K | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | ATP7B-V1140A | homozygous | 0.495 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | ATP7B-R952K | homozygous | 0.481 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | ATP7B-K832R | homozygous | 0.455 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.461 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
0.5 | ATP7B-V456L | homozygous | 0.360 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | ATP7B-S406A | homozygous | 0.355 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | WDR66-E65EEKEEE | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.5 | WDR66-V307I | het unknown | 0.034 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
0.5 | SACS-V3369A | het unknown | 0.244 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.769 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
0.5 | SACS-A694T | het unknown | 0.010 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | LBR-S154N | homozygous | 0.713 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | FREM2-S745P | homozygous | 0.994 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | FREM2-F1070S | het unknown | 0.527 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | FREM2-R2066C | het unknown | 0.094 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests |
0.5 | FREM2-T2153S | het unknown | 0.058 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | FREM2-T2326I | het unknown | 0.768 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | BRCA2-N372H | het unknown | 0.230 | Recessive pathogenic | Low clinical importance, uncertain | This is a common variant of BRCA2 (HapMap allele frequency of 23%). The variant is weakly associated with an increased chance of breast cancer, and zygosity of the variant is associated with sex of children: male children are more likely to be homozygous for this variant, female children are more likely to be heterozygous. |
0.5 | BRCA2-V2466A | homozygous | 0.954 | Dominant benign | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | TEP1-S1195P | homozygous | 0.703 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | TEP1-R1055C | homozygous | 0.631 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | ASPM-Y2494H | homozygous | 0.992 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | ASPM-V1321I | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.5 | HSD3B1-R71I | het unknown | 0.007 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.914 (probably damaging) |
0.5 | TSHR-P52T | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | TSHR-E727D | homozygous | 0.895 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | GALC-T641A | homozygous | 0.892 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | GALC-I562T | homozygous | 0.446 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.167 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | GALC-R184C | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.746 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
0.5 | SERPINA12-R211* | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
0.5 | SPATA7-V74M | homozygous | 0.412 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | ACOT4-R57C | het unknown | 0.009 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.346 (possibly damaging) |
0.5 | ACOT4-A187D | het unknown | 0.062 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.993 (probably damaging) |
0.5 | ACOT4-AY189QS | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.5 | ZFYVE26-R2411H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
0.5 | ZFYVE26-N1891S | homozygous | 0.900 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | ZFYVE26-C1457Y | het unknown | 0.136 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.005 (benign), Testable gene in GeneTests |
0.5 | ZFYVE26-T898S | het unknown | 0.046 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.293 (possibly damaging), Testable gene in GeneTests |
0.5 | ACIN1-S647SRS | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.5 | ACIN1-S478F | het unknown | 0.057 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.981 (probably damaging) |
0.5 | ACIN1-S467P | het unknown | 0.431 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.96 (probably damaging) |
0.5 | ACIN1-A447P | homozygous | 0.997 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | ACIN1-I311M | het unknown | 0.505 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | ACIN1-E281Del | het unknown | 0.061 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | PCK2-Q121P | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | CFHR2-C72Y | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.968 (probably damaging) |
0.5 | HMCN1-I2418T | homozygous | 0.553 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.468 (possibly damaging), Testable gene in GeneTests |
0.5 | HMCN1-E2893G | homozygous | 0.617 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.91 (probably damaging), Testable gene in GeneTests |
0.5 | HMCN1-Q4437R | homozygous | 0.547 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests |
0.5 | SYNE2-M1969T | homozygous | 0.637 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests |
0.5 | SYNE2-A2284V | homozygous | 0.637 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.289 (possibly damaging), Testable gene in GeneTests |
0.5 | SYNE2-S2359N | homozygous | 0.676 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests |
0.5 | SYNE2-A2395T | homozygous | 0.835 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | SYNE2-S2802G | homozygous | 0.864 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.012 (benign), Testable gene in GeneTests |
0.5 | SYNE2-I2942V | homozygous | 0.622 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | SYNE2-D3253H | homozygous | 0.684 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.933 (probably damaging), Testable gene in GeneTests |
0.5 | SYNE2-H3309R | homozygous | 0.647 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
0.5 | SYNE2-L5186M | homozygous | 0.708 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | HPD-T33A | homozygous | 0.884 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | HNF1A-S574G | homozygous | 0.976 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | TPO-A373S | het unknown | 0.188 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
0.5 | TPO-S398T | homozygous | 0.684 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.988 (probably damaging), Testable gene in GeneTests |
0.5 | TPO-T725P | het unknown | 0.524 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | TPO-V847A | het unknown | 0.674 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
0.5 | SLCO1B3-S112A | homozygous | 0.646 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | SLCO1B3-M233I | homozygous | 0.659 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.131 (benign) |
0.5 | SLCO1B1-V174A | het unknown | 0.097 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | LRRK2-R50H | homozygous | 0.927 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | LRRK2-M2397T | homozygous | 0.526 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | GYS2-M363V | homozygous | 0.729 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | RAD51AP2-G1037D | het unknown | 0.569 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.979 (probably damaging) |
0.5 | RAD51AP2-R976H | het unknown | 0.019 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.994 (probably damaging) |
0.5 | RAD51AP2-V876L | het unknown | 0.019 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.242 (possibly damaging) |
0.5 | RAD51AP2-S760I | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.048 (benign) |
0.5 | RAD51AP2-C533Y | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.5 | RAD51AP2-T531I | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.005 (benign) |
0.5 | RAD51AP2-Q490H | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.955 (probably damaging) |
0.5 | RAD51AP2-T488I | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.375 (possibly damaging) |
0.5 | ANO2-S500A | het unknown | 0.143 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | ANO2-P143S | het unknown | 0.046 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
0.5 | OTOF-R82C | homozygous | 0.229 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | HADHB-T2TT | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | TIRAP-S180L | het unknown | 0.073 | Complex/Other pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | WNK1-T1056P | homozygous | 0.838 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | WNK1-C1506S | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | SNX19-L878R | homozygous | 0.808 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | SNX19-N753S | homozygous | 0.617 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | SNX19-L618F | homozygous | 0.994 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | SNX19-V361L | homozygous | 0.671 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | VDR-M1T | het unknown | 0.687 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests |
0.5 | COL2A1-V1331I | het unknown | 0.025 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | MVK-S52N | het unknown | 0.100 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | CCDC63-Y303F | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.996 (probably damaging) |
0.5 | ATXN2-L107V | homozygous | 0.311 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | SLC24A6-C559Y | het unknown | 0.025 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.942 (probably damaging) |
0.5 | OAS3-R18K | homozygous | 0.662 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | OAS3-R65W | het unknown | 0.005 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
0.5 | MMAB-M239K | homozygous | 0.469 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | MMAB-R19Q | het unknown | 0.283 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | IRF2BP2-A254V | het unknown | 0.033 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
0.5 | IRF2BP2-P118A | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.5 | KRT83-H493Y | homozygous | 0.791 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | KRT83-I279M | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests | |
0.5 | KRT83-R149C | het unknown | 0.141 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | MTR-D919G | het unknown | 0.262 | Complex/Other protective | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.777 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
0.5 | EDARADD-M9I | homozygous | 0.726 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | BBS10-P539L | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.19 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | RGS12-M277L | het unknown | 0.044 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.073 (benign) |
0.5 | RGS12-R633Q | het unknown | 0.038 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.913 (probably damaging) |
0.5 | MLH3-P844L | het unknown | 0.298 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | MLH3-N826D | homozygous | 0.981 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | CEP152-L914V | het unknown | 0.045 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | SALL1-V1275I | homozygous | 0.983 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | LAMC2-D247E | het unknown | 0.059 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.328 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
0.5 | RHBG-V143D | het unknown | 0.236 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | RHBG-G315R | homozygous | 0.550 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | RHBG-P424Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.5 | RHBG-H428R | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.5 | BBS4-I354T | homozygous | 0.399 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | HEXA-I436V | homozygous | 0.748 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | NEDD4-N626S | het unknown | 0.702 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | NEDD4-R607Q | het unknown | 0.701 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | NEDD4-N407H | het unknown | 0.267 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | NEDD4-M33V | het unknown | 0.037 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
0.5 | NR2E3-T318Shift | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift, Testable gene in GeneTests |
0.5 | IL6R-D358A | homozygous | 0.266 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.911 (probably damaging) |
0.5 | BBS2-I123V | homozygous | 0.251 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | BBS2-S70N | homozygous | 0.992 | Unknown benign | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | RPTN-D455H | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.986 (probably damaging) |
0.5 | RPTN-K163R | het unknown | 0.108 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
0.5 | RPTN-S161P | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.743 (possibly damaging) | |
0.5 | RPTN-G159S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.5 | KIAA0556-A1267T | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | KIAA0556-E1426K | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.98 (probably damaging) |
0.5 | TELO2-E7R | het unknown | 0.372 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | TELO2-Q146R | homozygous | 0.447 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.129 (benign) |
0.5 | TELO2-S347T | het unknown | 0.010 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.968 (probably damaging) |
0.5 | GFER-F166L | het unknown | 0.035 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | PKD1-A4059V | het unknown | 0.048 | Unknown benign | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.779 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
0.5 | PKD1-I4045V | het unknown | 0.250 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | PKD1-A3512V | het unknown | 0.125 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | PKD1-E2419D | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.5 | ZBTB7B-P190S | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.932 (probably damaging) |
0.5 | TPSAB1-P111Shift | het unknown | 0.015 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
0.5 | MRPL28-H27Y | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) | |
0.5 | AQP8-A212T | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.313 (possibly damaging) |
0.5 | AQP8-A260P | homozygous | 0.425 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | ABCC6-R1268Q | het unknown | 0.142 | Unknown pharmacogenetic | Low clinical importance, uncertain | This common polymorphism appears to not have a significant phenotypic impact. A few studies report weak but significant associations with plasma lipids (in Inuits) and thalidomide toxicity. |
0.5 | ABCC6-M848V | homozygous | 0.954 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | ABCC6-H632Q | het unknown | 0.342 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | ABCC6-V614A | het unknown | 0.354 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | CACNA1H-M313V | het unknown | 0.121 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.006 (benign) |
0.5 | CACNA1H-R2060H | het unknown | 0.040 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
0.5 | CACNA1H-R2077H | het unknown | 0.738 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
0.5 | BNIPL-R189H | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
0.5 | LCAT-S232T | het unknown | 0.014 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.484 (possibly damaging), Testable gene in GeneTests |
0.5 | GCSH-S21L | homozygous | 0.750 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | THBS1-N700S | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
0.5 | LRRC50-Q307E | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.007 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | LRRC50-K393R | homozygous | 0.321 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.683 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
0.5 | LRRC50-L659V | het unknown | 0.112 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | TRPM1-P1379T | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.063 (benign), Testable gene in GeneTests | |
0.5 | TRPM1-S32N | homozygous | 0.786 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | TRPM1-M1T | homozygous | 0.898 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | ANXA9-M1V | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (probably damaging) |
0.5 | ANXA9-D166G | het unknown | 0.056 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.992 (probably damaging) |
0.5 | SEC22B-D70Y | het unknown | 0.003 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.5 | SEC22B-T81K | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | SEC22B-R107Q | het unknown | 0.002 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.5 | SEC22B-C129R | het unknown | 0.085 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | SEC22B-R131* | het unknown | 0.019 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
0.5 | SEC22B-H189R | het unknown | 0.508 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | PLA2G4D-R807Q | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.976 (probably damaging) |
0.5 | PLA2G4D-R783Q | het unknown | 0.054 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.01 (benign) |
0.5 | PLA2G4D-A649G | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.5 | PLA2G4D-K639Q | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.5 | PLA2G4D-Y627C | het unknown | 0.062 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | PLA2G4D-R601H | het unknown | 0.062 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
0.5 | PLA2G4D-R573W | het unknown | 0.054 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | PLA2G4D-S434T | het unknown | 0.266 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.064 (benign) |
0.5 | PLA2G4D-P275R | het unknown | 0.250 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | PLA2G4D-P10T | het unknown | 0.080 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.11 (benign) |
0.5 | STRC-Q84R | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | FHOD1-P533L | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.988 (probably damaging) |
0.5 | TJP1-I790V | het unknown | 0.094 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.984 (probably damaging) |
0.5 | FBN1-C472Y | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | ZDHHC1-R124Q | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.905 (probably damaging) |
0.5 | RANBP10-A570Shift | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
0.5 | DUOX2-S1067L | homozygous | 0.662 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | DUOX2-P138L | homozygous | 0.926 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | NCF2-K181R | homozygous | 0.471 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.375 | TMEM43-K168N | het unknown | 0.335 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.064 (benign), Testable gene in GeneTests with associated GeneReview |
0.375 | TMEM43-M179T | het unknown | 0.487 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.375 | TMEM43-R312W | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.375 | MASTL-V610I | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
0.375 | MASTL-P620A | het unknown | 0.125 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.923 (probably damaging), Testable gene in GeneTests |
0.375 | FUT6-R303G | het unknown | 0.107 | Recessive pathogenic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.725 (possibly damaging) |
0.375 | FUT6-P124S | het unknown | 0.496 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.614 (possibly damaging) |
0.375 | FLG-R3738H | het unknown | 0.134 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.278 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
0.375 | FLG-V3179G | het unknown | 0.339 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
0.375 | FLG-E2652D | het unknown | 0.304 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.406 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
0.375 | FLG-G2545R | het unknown | 0.292 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview |
0.375 | FLG-H2507Q | het unknown | 0.318 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
0.375 | FLG-L2481S | het unknown | 0.222 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
0.375 | FLG-K2444E | het unknown | 0.188 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
0.375 | FLG-E2398Q | het unknown | 0.144 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.92 (probably damaging), Testable gene in GeneTests with associated GeneReview |
0.375 | FLG-S2366T | het unknown | 0.125 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.967 (probably damaging), Testable gene in GeneTests with associated GeneReview |
0.375 | FLG-H2209R | het unknown | 0.119 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.375 | FLG-Y2194H | het unknown | 0.522 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.375 | FLG-K2192Q | het unknown | 0.235 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.375 | FLG-Y2119H | het unknown | 0.119 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.375 | FLG-A2108V | het unknown | 0.121 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.375 | FLG-H1961Q | het unknown | 0.418 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.375 | FLG-R1699C | het unknown | 0.428 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.375 | FLG-R1684H | het unknown | 0.190 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.375 | FLG-R1560C | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.375 | FLG-S1482Y | het unknown | 0.243 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.375 | FLG-R1376G | het unknown | 0.170 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.375 | FLG-R1360H | het unknown | 0.164 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.375 | FLG-A1167G | het unknown | 0.425 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.375 | FLG-E755K | het unknown | 0.155 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.375 | FLG-P478S | het unknown | 0.318 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
0.375 | FLG-T454A | het unknown | 0.328 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.075 (benign), Testable gene in GeneTests with associated GeneReview |
0.375 | FLG-G444R | het unknown | 0.319 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests with associated GeneReview |
0.375 | FLG-G332V | het unknown | 0.227 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests with associated GeneReview |
0.375 | PLD1-A622S | het unknown | 0.151 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.375 | PLD1-G237C | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
0.25 | EIF4G1-T161A | homozygous | 0.982 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.075 (benign) |
0.25 | EIF4G1-M432V | homozygous | 0.780 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | EIF4G1-S988Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.25 | FANCD2-P714L | het unknown | 0.246 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | NOTCH2-C19W | het unknown | 0.208 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | MASP2-D371Y | homozygous | 0.512 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | MASP2-C156Y | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
0.25 | SLC3A1-M618I | het unknown | 0.406 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests |
0.25 | THADA-C1605Y | het unknown | 0.137 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.387 (possibly damaging) |
0.25 | THADA-L1443F | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.729 (possibly damaging) |
0.25 | THADA-T1385S | het unknown | 0.180 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | THADA-T1187A | het unknown | 0.149 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.384 (possibly damaging) |
0.25 | CCDC50-I258N | het unknown | 0.536 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | CCDC50-K303R | het unknown | 0.524 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | CCDC50-M332T | het unknown | 0.661 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | CCDC50-R441Q | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
0.25 | TNFRSF1B-M196R | het unknown | 0.206 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.986 (probably damaging) |
0.25 | NGF-A35V | het unknown | 0.244 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.123 (benign), Testable gene in GeneTests |
0.25 | GBA-K144R | het unknown | 0.619 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | GBA-R140W | het unknown | 0.357 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | MCEE-A76V | het unknown | 0.177 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | PHF7-E326Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.25 | PHF7-E327R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | HHLA2-I30T | het unknown | 0.579 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
0.25 | HHLA2-W290* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
0.25 | HHLA2-S364R | het unknown | 0.112 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.022 (benign) |
0.25 | COL9A2-Q326R | het unknown | 0.403 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | CFH-V62I | het unknown | 0.495 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | CFH-H402Y | het unknown | 0.818 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | CFH-E936D | het unknown | 0.209 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.504 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
0.25 | LNP1-S61Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.25 | LNP1-CH64RL | het unknown | 0.062 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | CYP4B1-R173W | het unknown | 0.184 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | NEUROD1-T45A | het unknown | 0.754 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | STIL-H985R | het unknown | 0.172 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.648 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
0.25 | STIL-A86V | het unknown | 0.633 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | LRP8-R952Q | het unknown | 0.130 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | LRP8-D46E | het unknown | 0.621 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | ITGA6-A380T | het unknown | 0.253 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | CPOX-V294I | het unknown | 0.103 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.006 (benign), Testable gene in GeneTests |
0.25 | IQCF3-G46E | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | IQCF3-V47Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.25 | LDLRAP1-S202P | het unknown | 0.473 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.803 (possibly damaging), Testable gene in GeneTests |
0.25 | MLH1-I219V | het unknown | 0.124 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
0.25 | EPHX1-H139R | het unknown | 0.210 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.25 | CDA-K27Q | het unknown | 0.190 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | VGLL4-R275Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.25 | VGLL4-I38M | homozygous | 0.941 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | ABCA4-H423R | het unknown | 0.232 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | CTH-S403I | het unknown | 0.175 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | AOX1-N1135S | het unknown | 0.195 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | IQCB1-C434Y | het unknown | 0.198 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests |
0.25 | CTLA4-T17A | het unknown | 0.463 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
0.25 | MERTK-R466K | het unknown | 0.550 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | MERTK-I518V | het unknown | 0.550 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | MERTK-V870I | het unknown | 0.089 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | GLI2-A1156S | het unknown | 0.536 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | GLI2-D1306N | het unknown | 0.595 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | PCDH15-D440A | het unknown | 0.343 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | ROBO4-R184Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.25 | ROBO4-R64C | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | ROBO4-Q54R | homozygous | 0.484 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | LITAF-I92V | het unknown | 0.102 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | SH2B1-T484A | het unknown | 0.217 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | ABAT-Q56R | het unknown | 0.485 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | CLCN7-V418M | het unknown | 0.103 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | ADAMTSL3-H146R | het unknown | 0.706 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.04 (benign) |
0.25 | ADAMTSL3-L290V | homozygous | 0.833 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | ADAMTSL3-V661L | het unknown | 0.711 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | ADAMTSL3-G713R | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
0.25 | ADAMTSL3-L869F | homozygous | 0.272 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.148 (benign) |
0.25 | ADAMTSL3-E893K | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.061 (benign) |
0.25 | SLC28A1-D521N | het unknown | 0.226 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | PIGQ-R27Q | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | PIGQ-D4Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.25 | CD19-L174V | het unknown | 0.876 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | CETP-V422I | het unknown | 0.494 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | MPDU1-A229T | het unknown | 0.188 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | LRRC48-R191W | het unknown | 0.578 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | LRRC48-R444Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.25 | CHRNB1-E32G | het unknown | 0.172 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.288 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
0.25 | FANCA-T266A | het unknown | 0.708 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.778 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
0.25 | GPR56-S281R | het unknown | 0.750 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | DHODH-K7Q | het unknown | 0.560 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.004 (benign) |
0.25 | TAF1C-Q440Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.25 | TAF1C-C24Y | homozygous | 0.998 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | C15orf40-L132Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.25 | C15orf40-C25R | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | C15orf40-L11F | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | SLC28A2-P22L | het unknown | 0.248 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | SLC28A2-S75R | het unknown | 0.253 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | KRT6C-R182Q | het unknown | 0.281 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.805 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
0.25 | C12orf63-L593P | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | C12orf63-E666K | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | C12orf63-L734Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.25 | C12orf63-S790N | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | KRT6B-I365V | het unknown | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
0.25 | C12orf60-K65R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | C12orf60-N103K | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | C12orf60-M184Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.25 | CC2D2A-E376A | het unknown | 0.110 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.47 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
0.25 | VWF-T1381A | het unknown | 0.754 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | VWF-Q852R | het unknown | 0.904 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | VWF-H484R | het unknown | 0.498 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.83 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
0.25 | VWF-N318K | het unknown | 0.230 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.012 (benign), Testable gene in GeneTests with associated GeneReview |
0.25 | CDKN1B-V109G | het unknown | 0.400 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.004 (benign), Testable gene in GeneTests |
0.25 | SGCG-N287S | het unknown | 0.843 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | B3GALTL-E370K | het unknown | 0.612 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.088 (benign), Testable gene in GeneTests with associated GeneReview |
0.25 | PAX9-A240P | het unknown | 0.323 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | MTHFD1-K134R | homozygous | 0.846 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | MTHFD1-R653Q | het unknown | 0.320 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.008 (benign) |
0.25 | COCH-T352S | het unknown | 0.382 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | RPGRIP1-K192E | het unknown | 0.446 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | RPGRIP1-A547S | het unknown | 0.164 | Complex/Other benign | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.03 (benign), Testable gene in GeneTests with associated GeneReview |
0.25 | RPGRIP1-E1033Q | het unknown | 0.256 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | ITGBL1-E416Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.25 | ITGBL1-S417L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | C13orf40-K6544E | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | C13orf40-R6075C | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | C13orf40-L6011P | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | C13orf40-F5916L | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | C13orf40-N5750S | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | C13orf40-R5644T | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | C13orf40-S4943P | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | C13orf40-V3805I | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | C13orf40-T3015I | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | C13orf40-T2812P | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | C13orf40-G2410R | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | C13orf40-E2111Q | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | C13orf40-A1822P | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | C13orf40-C1275* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
0.25 | C13orf40-P773L | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | C13orf40-I96V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | C13orf40-C82S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | NR_028064-T138TRAHT | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | NR_028064-H49Q | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | NR_028064-C18W | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | NR_028064-A9Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.25 | MYO15A-A595T | het unknown | 0.557 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | MYO15A-C1977R | homozygous | 0.746 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | MYO15A-Y2682F | het unknown | 0.215 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | KRTAP3-2-R27C | het unknown | 0.156 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
0.25 | SLC19A1-H27R | het unknown | 0.447 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.002 (benign) |
0.25 | COL6A1-S116N | het unknown | 0.056 | Dominant benign | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.08 (benign), Testable gene in GeneTests with associated GeneReview |
0.25 | COL6A1-D223N | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.25 | CBR3-C4Y | het unknown | 0.391 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.002 (benign) |
0.25 | CBR3-V244M | het unknown | 0.398 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.014 (benign) |
0.25 | KCNE1-S38G | het unknown | 0.710 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
0.25 | FUT2-W154* | het unknown | 0.364 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Nonsense mutation |
0.25 | FUT2-G258S | het unknown | 0.390 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.954 (probably damaging) |
0.25 | MMP9-Q279R | het unknown | 0.477 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | MMP9-R574P | homozygous | 0.813 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | MMP9-R668Q | het unknown | 0.187 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | KCNQ2-N780T | het unknown | 0.509 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | POM121L4P-K136R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | POM121L4P-R445* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
0.25 | TCF20-M405V | het unknown | 0.102 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.963 (probably damaging) |
0.25 | ATRX-Q929E | het unknown | 0.565 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | XIAP-Q423P | het unknown | 0.277 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.053 (benign), Testable gene in GeneTests with associated GeneReview |
0.25 | CACNA1F-R1930H | het unknown | 0.104 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | WDR13-T139Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.25 | WDR13-H325R | homozygous | 0.997 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | ARSA-T391S | het unknown | 0.423 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | SHANK3-I245T | het unknown | 0.357 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | UBA1-R447H | het unknown | 0.199 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | CLASRP-K174E | homozygous | 0.997 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | CLASRP-S288Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.25 | ZNF224-M118V | het unknown | 0.793 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | ZNF224-H162L | het unknown | 0.780 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.262 (possibly damaging) |
0.25 | ZNF224-K640E | het unknown | 0.593 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | AXIN2-P50S | het unknown | 0.264 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | COG1-N392S | het unknown | 0.536 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | BRIP1-S919P | het unknown | 0.652 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | TBX4-G6A | het unknown | 0.219 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.497 (possibly damaging), Testable gene in GeneTests |
0.25 | ITGA2B-I874S | het unknown | 0.255 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | ITGB3-L59P | het unknown | 0.109 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.02 (benign), Testable gene in GeneTests |
0.25 | COL1A1-T1075A | het unknown | 0.961 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | TSEN54-E4D | het unknown | 0.675 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | TSEN54-K347N | het unknown | 0.430 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.968 (probably damaging), Testable gene in GeneTests with associated GeneReview |
0.25 | TSEN54-A437V | het unknown | 0.515 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
0.25 | SGSH-R456H | het unknown | 0.302 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | ICAM1-K469E | het unknown | 0.297 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | EMR2-L565F | homozygous | 0.826 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | EMR2-Q516Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.25 | NOTCH3-A2223V | het unknown | 0.553 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | STXBP2-I526V | het unknown | 0.725 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | NDUFS7-P23L | het unknown | 0.437 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
0.25 | NPC1-M642I | het unknown | 0.863 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | DSC3-R102K | het unknown | 0.479 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | DSC3-S78T | het unknown | 0.478 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.314 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
0.25 | LMAN1-M410L | het unknown | 0.105 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.025 (benign), Testable gene in GeneTests |
0.25 | HYLS1-C31R | het unknown | 0.322 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests |
0.25 | CNTNAP2-C9S | het unknown | 0.086 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.134 (benign), Testable gene in GeneTests |
0.25 | CNTNAP2-G285A | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
0.25 | LCA5-L24S | het unknown | 0.904 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
0.25 | FIG4-V654A | het unknown | 0.467 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | COL9A1-Q621R | het unknown | 0.335 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | COL9A1-S339P | het unknown | 0.507 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | TDRD6-T398A | homozygous | 0.885 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | TDRD6-Q1014E | het unknown | 0.342 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.952 (probably damaging) |
0.25 | TDRD6-R1457Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.25 | CYP21A2-R103K | het unknown | 0.216 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | HLA-DQA1-Q57E | het unknown | 0.203 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | HLA-DQA1-M230V | het unknown | 0.782 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | PEX6-P939Q | het unknown | 0.339 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | ENPP1-A124Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Frameshift, Testable gene in GeneTests | |
0.25 | ENPP1-K173Q | het unknown | 0.404 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.15 (benign), Testable gene in GeneTests |
0.25 | PLG-D472N | het unknown | 0.151 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | MLL5-P75Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.25 | MLL5-S1532N | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.33 (possibly damaging) |
0.25 | ALG8-N222S | het unknown | 0.120 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
0.25 | GLI3-P998L | het unknown | 0.444 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | GLI3-T183A | het unknown | 0.663 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | BBS9-A455T | het unknown | 0.135 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | PARK2-V380L | het unknown | 0.169 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | DACT2-T541P | homozygous | 0.974 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | DACT2-F382Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.25 | DACT2-E351G | homozygous | 0.374 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | SDK1-S58P | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | SDK1-D1016N | het unknown | 0.262 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | SDK1-S1223* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
0.25 | SDK1-H1641R | homozygous | 0.818 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.003 (benign) |
0.25 | MICA-L145V | het unknown | 0.191 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | MICA-G198S | het unknown | 0.337 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | MICA-I236T | het unknown | 0.570 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | MICA-R274Q | het unknown | 0.538 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | MICA-G318Shift | het unknown | 0.163 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Frameshift |
0.25 | TRIM15-S324N | het unknown | 0.155 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | AMACR-E277K | het unknown | 0.724 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | IL7R-I66T | het unknown | 0.597 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | IL7R-V138I | het unknown | 0.689 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | FGB-R478K | het unknown | 0.146 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | NR3C2-V180I | het unknown | 0.883 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | FAM114A1-G84R | homozygous | 0.200 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.859 (probably damaging) |
0.25 | FAM114A1-L116P | homozygous | 0.199 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | FAM114A1-V443I | het unknown | 0.100 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.02 (benign) |
0.25 | FAM114A1-Y537Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.25 | UGT2B7-Y268H | het unknown | 0.727 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | ADH1B-H48R | het unknown | 0.678 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | GHR-I544L | het unknown | 0.473 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests |
0.25 | HSD17B4-R106H | het unknown | 0.331 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.547 (possibly damaging), Testable gene in GeneTests |
0.25 | HSD17B4-I559V | het unknown | 0.392 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.111 (benign), Testable gene in GeneTests |
0.25 | F13A1-P565L | het unknown | 0.213 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | GABBR1-F843Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.25 | GABBR1-A20V | het unknown | 0.040 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.25 | GRM6-Q59P | het unknown | 0.211 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | NIPAL4-R213G | het unknown | 0.505 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
0.25 | C5orf20-R117* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
0.25 | C5orf20-N97D | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | C5orf20-T75P | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | SRA1-V110RL | het unknown | 0.360 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | TCOF1-A1353V | het unknown | 0.194 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | CFTR-V470M | het unknown | 0.621 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | SFTPC-T138N | het unknown | 0.172 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | SFTPC-S186N | het unknown | 0.222 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | SBF2-Q1216E | het unknown | 0.118 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.03 (benign), Testable gene in GeneTests with associated GeneReview |
0.25 | USH1C-E819D | het unknown | 0.408 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | CR591411-R134C | homozygous | 0.580 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | CR591411-P93Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.25 | MUC5AC-R79W | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | MUC5AC-V186Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.25 | MUC5AC-V497A | homozygous | 0.977 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | MUC5AC-F3655S | homozygous | 0.701 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | MUC5AC-T4564R | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | CALHM1-L86P | het unknown | 1.000 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | ADRB1-G389R | het unknown | 0.705 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | ACADSB-R13K | het unknown | 0.171 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.08 (benign), Testable gene in GeneTests |
0.25 | RAG1-H249R | het unknown | 0.615 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | RAG1-K820R | het unknown | 0.239 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.014 (benign), Testable gene in GeneTests |
0.25 | SLC35C1-I227V | het unknown | 0.156 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | IGHMBP2-L201S | het unknown | 0.650 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | IGHMBP2-I275V | het unknown | 0.138 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | IGHMBP2-R694W | het unknown | 0.163 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | MYO7A-L16S | het unknown | 0.550 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | MYO7A-S1666C | het unknown | 0.610 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | MYO7A-L1954I | het unknown | 0.552 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | ALDH3B2-H361R | het unknown | 0.881 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | ALDH3B2-R276W | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.25 | ALDH3B2-S220G | homozygous | 0.994 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | ALDH3B2-H203R | homozygous | 0.922 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | ALDH3B2-S52N | het unknown | 0.880 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | ALDH3B2-P5Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.25 | SPTBN2-G1046C | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
0.25 | SPTBN2-S825G | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | SERPING1-V480M | het unknown | 0.108 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.005 (benign), Testable gene in GeneTests |
0.25 | SLC15A3-LP519FT | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | SLC15A3-L508Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.25 | AX747192-F254Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.25 | AX747192-N149Shift | het unknown | 0.565 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Frameshift |
0.25 | PDE6C-S270T | het unknown | 0.419 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | LIPA-T16P | het unknown | 0.251 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests |
0.25 | BAAT-R201P | het unknown | 0.160 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | BAAT-R20Q | het unknown | 0.569 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.136 (benign), Testable gene in GeneTests |
0.25 | FKTN-R203Q | het unknown | 0.177 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.166 (benign), Testable gene in GeneTests with associated GeneReview |
0.25 | IKBKAP-P1158L | het unknown | 0.268 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | IKBKAP-C1072S | het unknown | 0.270 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | IKBKAP-I816L | het unknown | 0.316 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | IKBKAP-G765E | het unknown | 0.315 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | ROR2-V819I | het unknown | 0.798 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | ROR2-T245A | het unknown | 0.619 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | PRUNE2-LQAVT2714Del | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | PRUNE2-S2618G | homozygous | 0.772 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | PRUNE2-S2511P | homozygous | 0.773 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | PRUNE2-L2365F | homozygous | 0.308 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | PRUNE2-A2184T | homozygous | 0.786 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | PRUNE2-Q2115E | homozygous | 0.268 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | PRUNE2-T1972A | homozygous | 0.776 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | PRUNE2-C1506R | homozygous | 0.775 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | PRUNE2-M745I | homozygous | 0.254 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | PRUNE2-T215Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.25 | CHRNA2-T125A | het unknown | 0.644 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | RP1-N985Y | het unknown | 0.206 | Unknown benign | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.958 (probably damaging), Testable gene in GeneTests |
0.25 | RP1-A1670T | het unknown | 0.265 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
0.25 | RP1-S1691P | het unknown | 0.295 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | RP1-C2033Y | het unknown | 0.186 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests |
0.25 | TMEM67-I604V | het unknown | 0.710 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | MUSK-S159G | het unknown | 0.134 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
0.25 | MUSK-M413I | het unknown | 0.134 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview |
0.25 | ANXA11-R230C | het unknown | 0.382 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 1.0 (probably damaging) |
0.25 | BMPR1A-P2T | het unknown | 0.549 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | SEC16A-G1919Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.25 | SEC16A-R1039C | homozygous | 0.113 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | ERCC6-G399D | het unknown | 0.246 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | RET-G691S | het unknown | 0.167 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.16 (benign), Testable gene in GeneTests with associated GeneReview |
0.25 | C10orf113-D100H | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | C10orf113-R62G | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | C10orf113-S22Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.25 | PTF1A-S263P | het unknown | 0.654 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.981 (probably damaging), Testable gene in GeneTests |
0.125 | CYP4F2-V433M | het unknown | 0.216 | Recessive pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.309 (possibly damaging) |
0.125 | CYP4F2-W12G | het unknown | 0.058 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
0 | CD40LG-G219R | het unknown | 0.022 | Recessive pathogenic | Low clinical importance, uncertain | Study of a single family with X-linked immunodeficiency implicated this variant as causal when combined with XIAP-G466X. The authors' hypothesis is that either variant alone has much less effect, if any. Because 2% of males carry this variant, it is very unlikely that the variant alone has any severe effect. |
0 | HFE-H63D | het unknown | 0.086 | Recessive pathogenic | Low clinical importance, uncertain | There have been some hypotheses that this variant contributes to causing hereditary hemachromatosis, possibly as a compound heterozygote, but some others treat it as a polymorphism. Cys282Tyr is the classic causal variant and itself has very low penetrance. Mouse studies indicates this variant has a similar but weaker effect; if it has any effect at all its penetrance may be quite low and/or require modifier alleles. |
0 | MBL2-R52C | het unknown | 0.035 | Recessive pathogenic | Low clinical importance, likely | This variant is associated with mannose binding protein deficiency which leads to impaired complement system immune response to mannose-rich pathogens. Patients homozygous for this allele or compound heterozygous are likely to have increased susceptibility to infection, but Hellemann et al. report heterosis for intensive care outcomes in heterozygous subjects. The wild-type version of this gene is known as variant allele A, while this is called variant allele D. See G54D (variant B) and G57E (variant C). |
Input file format: CGIVAR
Genome build: b37
Genome coverage: 2,744,492,994 bases (96.9% of callable positions, 90.8% of total positions)
Coding region coverage: 32,861,153 bases (98.9% of all genes, 99.4% of genes with clinical testing available)
Chromosomes: chr1, chr10, chr11, chr12, chr13, chr14, chr15, chr16, chr17, chr18, chr19, chr2, chr20, chr21, chr22, chr3, chr4, chr5, chr6, chr7, chr8, chr9, chrM, chrX