- GET-Evidence variant report

Variant report for

Log file: 




VariantClinical
Importance
ImpactAllele
freq
Summary
1F11-F301LHighWell-establishedWell-established pathogenic

Recessive, Carrier (Heterozygous)
Causes factor XI deficiency, causing increased bleeding and impaired clotting. Recorded in ClinVar by OMIM (http://www.ncbi.nlm.nih.gov/clinvar/RCV000012667/), this effect seems to be well-established by literature and is found in patients with Ashkenazi ancestry. Asakai et al 1991 (PMID: 2052060) called this variant "Type III" and report it accounted for 47% of disease-causing alleles in 46 patients studied.1
2ABCA4-G1961EHighLikelyLikely pathogenic

Recessive, Carrier (Heterozygous)
0.00269567This rare variant causes Stargardt Disease in a recessive manner. It was hypothesized to increase susceptibility to age-related macular degeneration, but subsequent studies have contradicted this hypothesis.1
3RP1-T373IHighUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.0119003Reported to cause recessive retinitis pigmentosa in some Pakistani families. Because it is unclear whether these families have some common ancestry, and because there may be an uncharacterized linked variant, this pathogenic effect of this variant is considered uncertain.1
4SLC7A9-A182TModerateUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.00325339Reported to cause cystinuria when homozygous, may also have symptoms when heterozygous. Although authors reporting the variant as confidently causal and it has some supporting functional evidence, we are unable to establish that the variant has statistical significance for this association.1
5CYP1B1-R368HModerateUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.00149617This variant has been associated with early onset open-angle glaucoma and juvenile open-angle glaucoma, acting as a modifier to a variant in another gene or compound heterozygously with other more severe variants in the same gene.1
6MTRR-I49MLowLikelyLikely pathogenic

Recessive, Homozygous
0.451199This 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
7COL4A1-Q1334HLowLikelyLikely pathogenic

Dominant, Heterozygous
0.324689This common variant has been associated with arterial stiffness and, in Japanese, a small increased risk of myocardial infarction (MI, a.k.a. heart attack). This last observation supported a dominant effect for this variant and, assuming a lifetime risk of 15% for MI, we estimate carriers have an additional risk of 0.5-3%.1
8NOD2-R702WLowLikelyLikely pathogenic

Complex/Other, Heterozygous
0.0334821NOD2 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
9TGIF1-P83ShiftLowUncertainUncertain pathogenic

Complex/Other, Heterozygous
0.138889Severe 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
10ELAC2-S217LLowUncertainUncertain pathogenic

Complex/Other, Heterozygous
0.273471Reported 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
11TP53-P72RLowUncertainUncertain pathogenic

Unknown, Homozygous
0.627743This 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
12SP110-L425SLowUncertainUncertain pathogenic

Unknown, Homozygous
0.863357This 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
13H6PD-R453QLowUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.308886This common variant may have a small pathogenic effect by contributing to cortisone reductase deficiency (a rare abnormality) when homozygous and combined with a serious pathogenic variant. The same authors have tested and ruled out a contribution to polycystic ovary syndrome (similar phenotype, more common disease).1
14WFS1-R611HLowUncertainUncertain not reviewed

Recessive, Carrier (Heterozygous)
0.400446This 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
15rs1544410LowUncertainUncertain pharmacogenetic

Unknown, Heterozygous
0.351562rs1544410 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
16CFH-V62ILowLikelyLikely protective

Complex/Other, Heterozygous
0.391616Associated 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
17KCNJ11-K23ELowLikelyLikely protective

Unknown, Heterozygous
0.738148This 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
18IRS2-G1057DLowUncertainUncertain protective

Unknown, Homozygous
0.232615a.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
19BRCA2-T1915MLowUncertainUncertain protective

Unknown, Heterozygous
0.0205429Serrano-Fernández et al. found this variant to be associated with a modest (OR = 1.61) but significant (P = 0.0007) reduction in breast cancer risk. 1
20CACNA1S-L458HLowLikelyLikely benign

Unknown, Heterozygous
0.27282Common polymorphism1
21COL6A3-D2831HLowLikelyLikely benign

Unknown, Heterozygous
0.0678565Probably benign, reported by Pan et al. as a presumed-nonpathogenic variant in the gene.1
22OCA2-R305WLowLikelyLikely benign

Unknown, Heterozygous
0.0815207This 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
23NEFL-S472ShiftLowLikelyLikely benign

Unknown, Homozygous
Although a frameshift in this gene would be predicted to cause Charcot-Marie Neuropathy, this particular position appears to reflect a single base insertion error/mutation in the reference genome (in other words, normal individuals are always homozygous for a deletion at this position relative to reference). See chr8:24,811,060-24,811,080 annotations on UCSC.1
24KEL-T193MLowUncertainUncertain benign

Dominant, Heterozygous
0.0320692This 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
25MLH1-I219VLowUncertainUncertain benign

Dominant, Homozygous
0.239822Computational evidence, functional assays, and case/control studies suggest this variant is probably benign.1
26TYR-S192YLowUncertainUncertain benign

Unknown, Homozygous
0.270682This variant is reported to affect skin pigmentation. It is associated with lighter skin in South Asians (OR 4-5) and with a lack of freckles in Europeans (OR 1.3).1
27GALT-N314DLowUncertainUncertain benign

Unknown, Heterozygous
0.0716676This 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
28NKX2-5-E21QLowUncertainUncertain benign

Unknown, Heterozygous
0.000470189Probably nonpathogenic. Reported in a single case of tetralogy of fallot (a congenital heart defect), although an unaffected mother and grandmother were also carriers. A later study also found the variant in an affected family, but the variant did not segregate with disease (other affected family members were *not* carriers) -- they conclude that it is probably a nonpathogenic polymorphism.1
29PTCH1-P1315LLowUncertainUncertain benign

Unknown, Heterozygous
0.29631Common polymorphism, presumed benign.1
30NTRK1-G613VLowUncertainUncertain benign

Unknown, Heterozygous
0.0429448Also called G607V, this variant has been reported as a nonpathogenic polymorphism.1
31PCSK9-G670ELowUncertainUncertain benign

Unknown, Homozygous
0.888269This variant is likely benign. 1
32NTRK1-H604YLowUncertainUncertain benign

Unknown, Heterozygous
0.0431307Various databases and papers treat this variant as a non-pathogenic polymorphism, although it is fairly uncommon and is computational methods predict it to be damaging.1
33F5-M413TLowUncertainUncertain benign

Unknown, Heterozygous
0.0580963Presumed benign. This variant is not particularly rare and has not been reported to cause disease.1
34F5-D2222GLowUncertainUncertain benign

Unknown, Heterozygous
0.0448968Other mutations in this gene are associated with Factor 5 deficiency. There is no literature implicating this variant, however, and it is fairly common in the population (3.8% in HapMap), and so it is currently labeled as benign.1
35PKP2-L366PLowUncertainUncertain benign

Unknown, Heterozygous
0.221231This variant is a benign polymorphism. 1
36APOB-Y1422CLowUncertainUncertain benign

Unknown, Homozygous
0.999628This position is almost certainly an error in the HG18 reference sequence. 1
37TAS2R38-A49PLowUncertainUncertain benign

Unknown, Homozygous
0.431121This variant is strongly associated with causing the "taster" phenotype of phenylthiocarbamine (PTC) in a dominant manner.1
38TAS2R38-I296VLowUncertainUncertain benign

Unknown, Homozygous
0.463376This 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
39SLC45A2-L374FLowUncertainUncertain benign

Unknown, Homozygous
0.691764Pigmentation allele for non-black hair, and consequently, possible increased susceptibility to malignant melanoma.1
40RP1-N985YLowUncertainUncertain benign

Unknown, Heterozygous
0.348671Probably 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
41TCIRG1-R56WLowUncertainUncertain benign

Unknown, Heterozygous
0.0441778Probably benign. One publication implicates the variant in causing osteopetrosis, but this is contradicted by the relatively high allele frequency for the variant in Caucasians (5%, 1 in 400 homozygous) while that disease is extremely rare (1 in 250,000).1
VariantPrioritization scoreAllele
freq
Num of
articles
Zygosity and Prioritization Score Reasons

Exome coverage: 31619571 / 33282720 = 95.00%

GeneChromosomeCoverageMissingLengthMissing regions
1AGRN10.4206581948517435566138955553-955753, 957581-957584, 957597-957599, 957624-957650, 957661-957730, 957738-957797, 957813-957842, 970661, 970671-970704, 976045-976080, 976094-976134, 976149-976260, 976553-976633, 976642-976735, 976758-976769, 976858-976887, 976892-976893, 976907-976920, 976945-976948, 976979-976981, 976989-976998, 977021-977029, 977046-977082, 977338-977339, 977418-977444, 977451-977467, 977475-977493, 977497, 977538, 978631-978634, 978668-978684, 978691-978696, 978714, 978752-978754, 978768-978820, 978827-978837, 978918-978968, 978977-978978, 979006, 979015-979018, 979023, 979049-979112, 979203-979207, 979217-979250, 979271-979273, 979302-979330, 979334, 979367-979403, 979516-979519, 979610, 979628, 979791-979819, 980541-980554, 980570-980608, 980652-980653, 980774-980821, 980870-980903, 981160-981195, 981344-981350, 981380-981454, 981549-981564, 981618-981620, 981643-981645, 981777-981781, 981813-981837, 981855, 981891-981905, 981931-981998, 982049, 982083-982115, 982200-982263, 982277-982312, 982707-982759, 982827, 982976-982978, 982984-982985, 982994, 983016-983042, 983064-983067, 983156-983180, 983198-983220, 983246-983274, 983405-983449, 983472-983480, 983491, 983503-983745, 984247-984391, 984405-984439, 984616-984757, 984767, 984770, 984784-984819, 984946, 985068-985110, 985116-985175, 985283-985298, 985311-985364, 985379-985383, 985389-985404, 985415-985417, 985613-985624, 985678-985682, 985708-985709, 985807-985816, 985822-985857, 985870-985893, 985904, 985951-985971, 986106-986111, 986141-986159, 986197-986217, 986633-986641, 986657-986658, 986664-986745, 986833-986925, 986934-986939, 986942-986952, 986995, 987009, 987108-987162, 987174-987179, 987184-987188, 989133-989138, 989164-989243, 989276, 989284-989296, 989318-989341, 989846-989865, 989880-989910, 990219-990220, 990223-990224, 990238-990241, 990248-990250, 990265-990269, 990277-990280, 990300-990319, 990327-990329, 990342-990358
2GABRD10.8594554819720419113591950863-1950930, 1956422-1956428, 1956809-1956815, 1956818, 1956986, 1957026, 1957040-1957044, 1957067-1957077, 1957108-1957125, 1957148-1957149, 1957151-1957153, 1960595, 1960599-1960600, 1960633, 1960640-1960644, 1960650-1960653, 1960697-1960700, 1960990-1960993, 1961181-1961201, 1961432-1961435, 1961448-1961449, 1961580, 1961610, 1961640-1961656
3PEX1010.722731906218142729812337923-2337962, 2337970-2338002, 2338165, 2338185, 2338231, 2338273-2338282, 2338295-2338330, 2339999, 2340005-2340031, 2340150-2340174, 2340200-2340202, 2340273-2340275, 2341826, 2343836-2343837, 2343843-2343913, 2343923-2343926, 2343929-2343941
4NPHP410.9180098107918735142815923978-5923985, 5925252-5925253, 5925267-5925268, 5935155, 5935159-5935160, 5947474-5947480, 5947507-5947526, 5950936-5950961, 5950969-5950972, 5950975, 5950978, 5951079, 6012761, 6021882-6021894, 6027365, 6027373, 6027404, 6029147-6029159, 6029287, 6038330-6038473, 6046225-6046282, 6046307-6046349
5ESPN10.7017543859649176525656485016-6485157, 6485188-6485308, 6488293-6488295, 6488322, 6488325, 6488333, 6488373-6488392, 6488426-6488437, 6488463-6488479, 6500370-6500392, 6500425-6500426, 6500432-6500437, 6500449-6500488, 6500709-6500725, 6500738-6500798, 6500823-6500825, 6500840-6500855, 6500864-6500868, 6501012-6501037, 6501049-6501065, 6501097-6501103, 6505847-6505860, 6505888-6505937, 6508760-6508766, 6508819-6508857, 6508882-6508888, 6508922-6508928, 6508954-6508982, 6509054-6509086, 6509100-6509106, 6511703-6511709, 6511907-6511928, 6512137, 6512144
6PLEKHG510.986202571338984431896529183-6529185, 6529258, 6530860-6530864, 6534222-6534224, 6534528-6534533, 6534577, 6534582, 6534634-6534647, 6535529-6535531, 6556561, 6556592, 6556607, 6557380-6557383
7KIF1B10.999623564840962531310357025-10357026
8PEX1410.88712522045855128113410684433-10684453, 10689588-10689599, 10689705-10689706, 10689743-10689770, 10689792, 10689810, 10689852-10689909, 10690003-10690006, 10690013
9TARDBP10.9598393574297250124511076941-11076946, 11082339-11082362, 11082519-11082538
10MASP210.80203784570597408206111090809-11090834, 11090891, 11090895, 11094885-11094905, 11097769-11097807, 11097834-11097861, 11102935-11102942, 11102952-11102956, 11102961, 11102964, 11102971-11102976, 11102982-11103002, 11103038-11103053, 11103428-11103452, 11103482, 11103487-11103489, 11103514, 11103525-11103528, 11103549-11103554, 11105465-11105530, 11105547-11105551, 11106620-11106623, 11106661-11106699, 11106762-11106790, 11106949-11106954, 11106988-11106995, 11107054-11107060, 11107137-11107143, 11107159-11107176, 11107260-11107264
11MTHFR10.9066463723998184197111853968-11854017, 11854054-11854113, 11854540-11854560, 11854845-11854853, 11861286, 11861289, 11861296-11861299, 11862960-11862976, 11863100-11863120
12PLOD110.9647435897435977218411994837-11994885, 11994903-11994912, 12023675, 12023678, 12024292-12024294, 12025636, 12026310-12026321
13MFN210.9956024626209310227412066701-12066710
14CLCNKA10.65213178294574718206416351270-16351297, 16352666, 16353246-16353253, 16353805-16353838, 16354318-16354335, 16354513-16354520, 16354600, 16355280, 16355287, 16355290-16355302, 16355643-16355665, 16355672, 16355675-16355679, 16355702-16355706, 16355713-16355748, 16356226-16356263, 16356269-16356280, 16356283-16356285, 16356460-16356527, 16356550, 16356553-16356570, 16356956-16357007, 16357018, 16357028-16357067, 16357081-16357140, 16357166-16357169, 16358213-16358241, 16358268-16358293, 16358698-16358786, 16358938-16358948, 16359000-16359001, 16359007, 16359696, 16359699-16359704, 16359719-16359751, 16360108-16360147
15CLCNKB10.67538759689922670206416371007-16371020, 16371054-16371057, 16371064, 16371067, 16372053-16372067, 16373044-16373050, 16374448, 16375050-16375064, 16376113-16376114, 16376368, 16376380, 16377011-16377048, 16377080, 16377370-16377430, 16377443-16377504, 16377973-16377977, 16377980-16377988, 16378025, 16378216-16378221, 16378262-16378279, 16378693-16378795, 16378837-16378844, 16378852-16378856, 16378860-16378864, 16378879, 16378892-16378906, 16380156-16380157, 16380167-16380176, 16380181-16380190, 16380196-16380216, 16380243, 16380252, 16380267, 16381930-16381980, 16381990-16382015, 16382170-16382196, 16382221-16382238, 16382939-16383003, 16383369-16383405
16ATP13A210.981089472198767354317312987-17313016, 17313371-17313380, 17313602-17313604, 17313607-17313618, 17322626, 17323650-17323660
17SDHB10.99169632265718784317371296-17371302
18ALDH4A110.993498817966911169219208335-19208336, 19209692, 19209778-19209779, 19215908, 19215944-19215948
19ALPL10.9828571428571427157521889772-21889777, 21890539-21890541, 21890620-21890623, 21894735, 21896859-21896867, 21900165, 21900273-21900274, 21903978
20HSPG210.981405585913782451317622149844-22149850, 22149935, 22154638-22154640, 22168047, 22172638-22172645, 22172972, 22174250-22174251, 22174295-22174298, 22175469, 22175478-22175484, 22175512-22175523, 22176976-22176984, 22180776-22180782, 22181412, 22181415-22181420, 22181797-22181803, 22181806-22181807, 22181813, 22182050-22182052, 22182096, 22186060-22186069, 22186099-22186110, 22186167, 22186339-22186356, 22186388-22186403, 22186457-22186465, 22191560, 22199141-22199147, 22199503-22199526, 22263648-22263710
21WNT410.915719696969789105622446773, 22456128-22456134, 22456341-22456344, 22469339-22469415
22RPL1110.99441340782123353724019111-24019113
23FUCA110.8429693076374220140124186359, 24186392, 24189706-24189723, 24191985-24192006, 24194409, 24194416, 24194421, 24194469-24194509, 24194609-24194619, 24194633-24194635, 24194639-24194650, 24194652-24194657, 24194675-24194776
24LDLRAP110.953613807982744392725870190-25870211, 25870257-25870276, 25889632
25SEPN110.87829736211031203166826126722-26126904, 26136235-26136250, 26138353-26138356
26YARS10.998739760554512158733244983-33244984
27KCNQ410.92337164750958160208841249766-41249779, 41249834-41249891, 41249910-41249928, 41249956, 41249973-41249991, 41250029-41250045, 41284275-41284305, 41285020
28LEPRE110.9923111714156517221143213947-43213963
29EIF2B310.999264164827081135945345667
30STIL10.998448409619866386747755107-47755112
31ORC110.996519721577739258652851529, 52851554, 52851557, 52854236, 52854894-52854898
32DHCR2410.99935525467441155155352792
33PCSK910.9677729677729767207955521689-55521691, 55521694, 55521729-55521746, 55521812-55521854, 55524237, 55524277
34ALG610.994117647058829153063881589-63881591, 63881623-63881628
35AGL10.999782561426414599100387190
36COL11A110.99450247388675305457103364259-103364288
37GSTM110.9786910197869114657110230836-110230842, 110235885-110235891
38NOTCH210.977211434735711697416120539665-120539714, 120539778-120539784, 120539913-120539939, 120548022-120548058, 120548091-120548097, 120572544-120572575, 120572609-120572610, 120611964, 120612015-120612020
39FLG10.9812079435417722912186152278407-152278437, 152279403-152279409, 152279886-152279900, 152280471, 152280614, 152281350-152281356, 152281690-152281691, 152282102-152282105, 152282111, 152282120, 152282252-152282264, 152282295-152282305, 152282684-152282687, 152283231-152283275, 152283331-152283337, 152283783-152283784, 152284053, 152284075, 152284087, 152284176-152284178, 152284208-152284209, 152284601, 152284944, 152284997-152285023, 152285041, 152285158, 152285180, 152285188, 152285213-152285247, 152285280
40GBA10.9874686716792151197155184367, 155184381, 155184416, 155184914-155184917, 155184920, 155187141-155187147
41PKLR10.99072463768116161725155269991-155270006
42LMNA10.996472663139332567156105042, 156105048
43LMNA10.9974937343358451995156105042, 156105048, 156108435-156108437
44SEMA4A10.9973753280839962286156131145-156131150
45NTRK110.9966541196152282391156830752-156830754, 156830776-156830777, 156830780, 156830783-156830784
46SLC19A210.9979919678714931494169454958-169454960
47F510.99580524344569286675169510348, 169510460-169510486
48LAMC210.9991624790619833582183208627-183208629
49HMCN110.998521409983442516908185976303, 185976306-185976308, 186062678-186062693, 186158823-186158827
50CFH10.9981060606060673696196716389-196716395
51CFHR110.997985901309162993196801042, 196801078
52CFHR510.9994152046783611710196967369
53CACNA1S10.9983991462113195622201081331-201081338, 201081428
54PKP110.9995414947271912181201294225
55ADCK310.97633744855967461944227152701, 227169781-227169822, 227169835, 227169841, 227174434
56GJC210.572727272727275641320228345460-228345461, 228345482-228345484, 228345491-228345499, 228345514-228345518, 228345572, 228345575, 228345588-228345589, 228345658, 228345661, 228345665, 228345675, 228345715-228345721, 228345758, 228345761, 228345764-228345765, 228345785-228345804, 228345838-228345841, 228345847, 228345876-228345926, 228345947-228345992, 228346030, 228346063-228346124, 228346195-228346215, 228346284-228346302, 228346329-228346335, 228346341-228346495, 228346525, 228346534-228346558, 228346588-228346634, 228346652-228346659, 228346664-228346680, 228346683, 228346686, 228346689-228346690, 228346711, 228346734-228346768, 228346779
57ACTA110.97883597883598241134229567875, 229567915, 229567919-229567921, 229568017-229568035
58LYST10.99991232684552111406235971983
59RYR210.99946323134729814904237729918-237729924, 237729981
60GATA3100.9940074906367813358100733-8100740
61OPTN100.9844290657439427173413151245-13151271
62DCLRE1C100.9975949975955207914970016-14970019, 14981868
63CUBN100.99889624724062121087217142037-17142046, 17146485, 17146573
64PTF1A100.958459979736584198723481528, 23481638, 23481644, 23481647-23481654, 23481748-23481768, 23481899-23481905, 23482158, 23482694
65MASTL100.999620781190751263727459873
66RET100.94469357249626185334543572714-43572777, 43595907, 43595976, 43596050, 43596053, 43597988, 43598026-43598029, 43600594-43600629, 43606842-43606861, 43606894-43606913, 43609943-43609945, 43610002-43610008, 43610150-43610166, 43610183-43610184, 43615091-43615097
67ERCC6100.999107541276224448250740822-50740825
68CHAT100.95238095238095107224750822236-50822247, 50822266-50822283, 50822331-50822362, 50822373-50822417
69PCDH15100.999320767532694588955587245, 55591175-55591177
70KIAA1279100.9860664523043926186670768609-70768616, 70770666-70770674, 70770736, 70770740-70770747
71CDH23100.966984884645983321005673406332-73406341, 73437435, 73439235-73439249, 73447404-73447419, 73447457-73447476, 73453907-73453910, 73453970-73453998, 73455273, 73461880-73461906, 73461922-73461952, 73461966, 73462306-73462344, 73462363-73462378, 73462444-73462451, 73464731-73464775, 73464862-73464863, 73464876-73464879, 73466666, 73466670-73466672, 73472422-73472426, 73537500-73537502, 73548774-73548791, 73548796, 73550164-73550170, 73551079-73551086, 73553124, 73569807-73569811, 73571157, 73571163, 73571174, 73571719, 73571723-73571725, 73574845, 73574848-73574850
72VCL100.997944199706317340575758096-75758102
73LDB3100.94871794871795112218488466337-88466347, 88466355-88466366, 88466391-88466401, 88466428, 88476093-88476100, 88476104, 88476153, 88476185-88476188, 88476206-88476227, 88476236, 88476244-88476250, 88476277-88476297, 88476514-88476521, 88476524-88476527
74GLUD1100.958258795468170167788854352-88854355, 88854370, 88854407, 88854410-88854412, 88854439-88854481, 88854508-88854525
75PLCE1100.9985526125343810690996076365-96076374
76HPS1100.98433048433048332106100177346, 100177361, 100177364-100177369, 100177372-100177387, 100177394-100177396, 100177421-100177423, 100177977-100177978, 100189563
77ABCC2100.999784389823214638101596038
78FBXW4100.9959644874899151239103371461, 103454312-103454315
79HPS6100.927405498281791692328103825374-103825412, 103825439-103825459, 103825475-103825519, 103825567, 103825583, 103825725-103825755, 103825817-103825821, 103826039-103826047, 103826520, 103826989-103827002, 103827004, 103827020
80SUFU100.9766323024055341455104264010-104264019, 104264089-104264091, 104309850-104309852, 104352406-104352418, 104356992-104356996
81CYP17A1100.9947609692206981527104592347-104592354
82COL17A1100.9991099243435744494105816916, 105816919-105816920, 105816930
83EMX2100.997364953886692759119302939, 119302942
84BAG3100.99421296296296101728121411188-121411196, 121436184
85HTRA1100.875259875259881801443124221169-124221246, 124221270, 124221276, 124221310-124221319, 124221329-124221367, 124221381-124221383, 124221387-124221398, 124221404, 124221407, 124221415, 124221428-124221436, 124221447-124221461, 124221464-124221466, 124221475, 124221486-124221490
86UROS100.99373433583965798127477437-127477441
87HRAS110.76491228070175134570532664-532666, 532697-532698, 532701-532702, 532706-532736, 533453-533479, 533496, 533565, 533769, 533792-533841, 534254, 534304-534318
88TALDO1110.818540433925051841014747482-747501, 747516, 747533-747542, 747553-747578, 763344-763345, 763352-763375, 763402-763477, 763511, 763865-763873, 763876-763879, 763895-763897, 763900, 764331-764333, 764337-764339, 764833
89SLC25A22110.34053497942387641972791920-791945, 791995-792028, 792052-792068, 792142-792161, 792185-792186, 792189-792204, 792312-792373, 792398-792432, 792442-792458, 792563-792611, 792619-792723, 792870-792904, 792910-792913, 792928-792948, 792957-792988, 793529, 793549-793550, 793560-793563, 793594-793619, 794482-794509, 794776-794846, 794856, 794869-794901
90PNPLA2110.530693069306937111515819719-819819, 819825-819842, 819857-819886, 819896-819905, 821731-821737, 821806, 821813-821827, 821997-822013, 822017, 822021-822023, 822485-822487, 822490, 823554-823564, 823585-823587, 823695-823702, 823713-823746, 823777-823779, 823786, 823791-823837, 823846-823855, 823998-824058, 824066-824072, 824093-824120, 824317-824354, 824372-824428, 824523-824527, 824544-824593, 824612-824618, 824647-824687, 824722-824747, 824773, 824797-824862
91CTSD110.7296206618240533512391774809-1774814, 1774864-1774867, 1774870, 1774881-1774892, 1774900, 1775033-1775049, 1775088-1775094, 1775264, 1775271-1775279, 1775307-1775327, 1775346-1775368, 1778562-1778611, 1780199-1780212, 1780276-1780279, 1780284-1780293, 1780747-1780777, 1780803-1780842, 1782591-1782594, 1782598-1782599, 1782627-1782629, 1782654-1782655, 1782658, 1782664, 1782684-1782686, 1785022-1785089
92TNNI2110.633879781420772015491861454-1861468, 1861633-1861634, 1861639-1861650, 1861671, 1861760, 1861773, 1861784, 1861789-1861794, 1861835, 1861838-1861842, 1861884-1861886, 1862112-1862138, 1862333-1862379, 1862386-1862435, 1862687-1862715
93TNNT3110.243243243243245887771946329-1946346, 1947925-1947939, 1950372, 1951054, 1953699-1953712, 1954951-1955006, 1955014-1955067, 1955161-1955238, 1955562-1955675, 1955813-1955885, 1956059-1956082, 1956089-1956149, 1958193-1958195, 1958203, 1958206, 1958215-1958233, 1959668-1959722
94H19110.99346405228758710712017574, 2017986, 2017994-2017997, 2018308
95IGF2110.143459915611816097112154217-2154453, 2154750, 2154755-2154797, 2154807-2154811, 2154821-2154895, 2156597-2156759, 2161374-2161382, 2161407-2161436, 2161470-2161511, 2161523-2161526
96TH110.033650793650794152215752185463-2185622, 2186462-2186595, 2186898-2186993, 2187232-2187288, 2187710-2187779, 2187863-2187998, 2188117-2188262, 2188665-2188715, 2189096-2189163, 2189321-2189409, 2189721-2189895, 2190880-2191101, 2191920-2192000, 2192943-2192947, 2192971-2192990, 2192997, 2193002-2193012
97KCNQ1110.8330871491875933920312466329-2466504, 2466523-2466524, 2466532, 2466537-2466575, 2466582-2466584, 2466589, 2466599-2466685, 2466702-2466714, 2592561-2592576, 2593334
98CDKN1C110.139852786540488189512905234-2905284, 2905318-2905354, 2905900-2906137, 2906144-2906578, 2906592-2906619, 2906651-2906654, 2906694-2906718
99SMPD1110.99683544303797618966411931-6411936
100KCNJ11110.998294970161982117317408910, 17408913
101ABCC8110.9932574799831432474617414665-17414667, 17415877-17415878, 17417264, 17496560-17496563, 17498268-17498275, 17498300-17498313
102USH1C110.999629629629631270017517146
103WT1110.9639639639639656155432449522, 32456553, 32456592, 32456616-32456625, 32456645-32456663, 32456679-32456697, 32456733, 32456753-32456756
104ALX4110.997572815533983123644286609-44286611
105SLC35C1110.9772727272727324105645827420-45827421, 45827430, 45827832-45827834, 45827837-45827840, 45827872-45827880, 45832574-45832578
106PEX16110.81075888568684197104145931642-45931691, 45935370, 45935961-45935985, 45937064-45937070, 45937075, 45937257, 45937335, 45937359, 45937365-45937383, 45939026-45939044, 45939254-45939301, 45939307-45939330
107F2110.9561262707330182186946740849, 46741261, 46741372, 46741376, 46741394, 46744814, 46744818-46744820, 46744825, 46744970, 46745041-46745043, 46747479, 46747498-46747526, 46747529, 46747533, 46747550-46747554, 46747619, 46747625-46747631, 46748054-46748057, 46748266-46748268, 46748274, 46748279, 46748285, 46750236, 46751091-46751098, 46751101-46751104
108MYBPC3110.9780392156862784382547353652, 47367881-47367921, 47368189-47368195, 47368986-47368992, 47369410, 47369417-47369418, 47370070-47370092, 47372124-47372125
109SLC39A13110.997311827956993111647435991, 47435994, 47436426
110RAPSN110.9895076674737713123947460306, 47460463-47460466, 47460469-47460473, 47464221, 47469686, 47469692
111NDUFS3110.99874213836478179547602511
112SDHAF2110.99800399201597150161205281
113SLC22A12110.74789410348977419166264359093, 64359105-64359109, 64359131-64359152, 64359178, 64359212, 64359401-64359423, 64360881-64360884, 64360929-64360964, 64361002-64361004, 64361007, 64361016, 64361126-64361166, 64361178-64361245, 64365988-64366002, 64366012-64366019, 64366074, 64366084, 64366300-64366329, 64366350, 64367170, 64367200-64367203, 64367212-64367213, 64367216-64367220, 64367229-64367306, 64367313-64367349, 64367917, 64368207-64368233, 64369005
114PYGM110.95057334914986125252964520991-64520999, 64521027-64521028, 64521036-64521045, 64521371, 64521377-64521378, 64521382, 64521390, 64521393-64521396, 64521401, 64521457-64521475, 64521738-64521739, 64521745-64521780, 64526141-64526142, 64527138-64527169, 64527210, 64527223-64527224
115MEN1110.92965367965368130184864571833-64571844, 64571991, 64572070-64572071, 64572082-64572092, 64572158-64572163, 64572173-64572175, 64572181, 64572529-64572531, 64572552, 64572579, 64572628, 64572631, 64573159, 64573719, 64575024-64575042, 64577163, 64577175-64577177, 64577239-64577250, 64577326-64577364, 64577542-64577547, 64577553, 64577578-64577581
116EFEMP2110.9887387387387415133265635428-65635432, 65635436-65635443, 65636004, 65639825
117CST6110.99777777777778145065780338
118SPTBN2110.96180119894047274717366468138, 66468308, 66468519, 66468523-66468527, 66468729-66468745, 66469097-66469103, 66469118-66469148, 66472623-66472635, 66472752, 66474993-66475008, 66475050, 66475067, 66475070, 66475075, 66475094-66475131, 66475167-66475198, 66475207-66475216, 66475240-66475260, 66475623, 66475628-66475634, 66475637-66475640, 66475687-66475688, 66475715, 66475720, 66475745-66475770, 66476401, 66478120-66478122, 66478158-66478160, 66478184, 66478228, 66478236-66478238, 66478432, 66478471, 66481563, 66481792, 66481796, 66482814-66482822, 66483315, 66483352-66483356, 66483400, 66483405
119PC110.93299406276506237353766617263-66617266, 66617700, 66617704-66617711, 66619925, 66619929-66619940, 66620049, 66620068, 66631319, 66631322, 66633658-66633667, 66633722, 66637796, 66637809, 66637846-66637864, 66637914-66637920, 66638276, 66638533, 66638539, 66638544-66638546, 66638584, 66638597, 66638600, 66638604-66638605, 66638625, 66638661-66638668, 66638786-66638794, 66638806-66638812, 66638848-66638855, 66638887-66638924, 66638935-66638951, 66639165-66639196, 66639213-66639239, 66639255, 66639258, 66639502-66639506, 66639520, 66639629-66639630
120CABP4110.943236714975854782867222963-67222974, 67223088, 67223091, 67223126-67223138, 67223167, 67223241, 67223820, 67225874-67225882, 67225895, 67225946-67225950, 67225988-67225989
121AIP110.3977844914400859899367254478, 67254527, 67254542-67254543, 67254595-67254623, 67254637, 67254643, 67254647, 67256738-67256885, 67257509-67257558, 67257588-67257604, 67257607-67257610, 67257615, 67257624-67257626, 67257630-67257685, 67257787-67257789, 67257809-67257915, 67258259-67258278, 67258286-67258295, 67258302-67258444
122NDUFS8110.903633491311226163367799774-67799788, 67799792-67799793, 67800390-67800419, 67800445, 67800578-67800581, 67800649, 67800673, 67800679, 67800689-67800691, 67803819-67803820, 67804010
123TCIRG1110.85238668271159368249367808753-67808783, 67810111, 67810114-67810118, 67810138, 67810177, 67810198, 67810212, 67810257-67810313, 67810330, 67810465-67810467, 67810494-67810498, 67810893-67810901, 67810908, 67810918-67810924, 67810929, 67810933, 67810938, 67811050-67811056, 67811313-67811360, 67811370-67811374, 67811648, 67811656, 67811781-67811807, 67816550, 67816572, 67816586, 67816607, 67816618, 67816710-67816733, 67817139, 67817168-67817192, 67817204-67817211, 67817217, 67817223, 67817229, 67817235, 67817618-67817649, 67817709-67817721, 67817967, 67818020, 67818032, 67818035-67818037, 67818075-67818080, 67818088, 67818208-67818230, 67818275-67818278
124LRP5110.94554455445545264484868080183-68080263, 68131215-68131218, 68131362, 68153784, 68153787-68153796, 68201217-68201238, 68201250, 68201255, 68201287, 68201295, 68204458-68204467, 68205952-68205963, 68207328-68207375, 68207382-68207384, 68216409, 68216432-68216439, 68216451-68216452, 68216464-68216466, 68216469-68216478, 68216493-68216536
125IGHMBP2110.96109993293092116298268671441-68671445, 68671471, 68671473-68671477, 68673562, 68696674, 68696735-68696737, 68701979-68701986, 68702821, 68702835-68702840, 68702846-68702850, 68703986-68703991, 68704070-68704093, 68704316-68704318, 68704331, 68704346-68704354, 68704388-68704404, 68704407, 68704516-68704534
126DHCR7110.996498599439785142871146426-71146429, 71146691
127MYO7A110.690282791817092059664876853850-76853868, 76858871, 76858898-76858917, 76867095-76867096, 76867788-76867797, 76873353-76873354, 76877157-76877169, 76883829-76883832, 76883838-76883856, 76883860, 76883866, 76883877-76883926, 76885802-76885804, 76885830-76885854, 76885864-76885868, 76885887-76885889, 76885892-76885960, 76886418-76886510, 76888595-76888689, 76890091-76890175, 76890781-76890999, 76891420-76891527, 76892426-76892635, 76892997-76893200, 76893469-76893645, 76894113-76894144, 76894153, 76894157-76894158, 76894174, 76894194-76894202, 76895633-76895681, 76895697-76895760, 76900389-76900471, 76900508, 76900511-76900515, 76901065-76901143, 76901154-76901184, 76901742-76901747, 76901779-76901829, 76901848-76901852, 76901890-76901899, 76903096-76903105, 76903117-76903151, 76903163-76903206, 76903222-76903224, 76903229, 76903232-76903245, 76903256-76903297, 76903309, 76903313-76903322, 76908528, 76909584, 76909594, 76909603, 76909614, 76909625, 76909646-76909648, 76910765-76910768, 76910772, 76910776-76910790, 76910795, 76910805, 76910837
128DYNC2H1110.998686751641561712945102991512, 103080673-103080688
129ATM110.9998909606367919171108172458
130DRD2110.995495495495561332113281449-113281450, 113283318-113283321
131APOA1110.9427860696517446804116706708, 116706711-116706726, 116706766-116706771, 116706776, 116706785, 116706796-116706816
132FXYD2110.997716894977171438117693255
133SLC37A4110.9943820224719161068118895620-118895625
134TECTA110.982985305491111106465120989051-120989063, 120989116-120989141, 120989158-120989178, 120989188-120989227, 120989316, 120989394-120989395, 120989398, 120989404-120989408, 120989420
135WNK1120.978878164778291517149862732-862767, 862791, 862890-862902, 862910-862912, 862931-862937, 862971-862998, 863199-863214, 863230-863271, 980508-980509, 995181-995183
136CACNA2D4120.99824253075571634141949925, 1949940, 1953661, 1953694-1953695, 1963156
137CACNA1C120.997408931565311765612676765, 2800349-2800364
138TNFRSF1A120.99415204678363813686438599-6438606
139SCNN1A120.991312299954281921876483807-6483825
140TPI1120.98133333333333147506976731-6976737, 6976828-6976834
141ATN1120.99804086202071735737045889-7045894, 7045897
142GYS2120.999053030303032211221712072-21712073
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147VDR120.999221183800621128448272895
148COL2A1120.9921594982078935446448373339, 48374353-48374354, 48374361, 48374364-48374371, 48374437, 48374727-48374743, 48375587, 48376349-48376351, 48393806
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163SLC25A3120.999081726354451108998994984
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172ATP6V0A2120.99416569428238152571124209284-124209298
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180PCCA130.99314128943759152187101101506-101101507, 101101527-101101539
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185TEP1140.9941653982749946788420841503-20841527, 20841554, 20844012-20844015, 20844390, 20851762-20851772, 20854711-20854714
186RPGRIP1140.9992229992233386121769371, 21771584, 21775924
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196GCH1140.915006640106246475355369191-55369238, 55369262-55369270, 55369278-55369284
197SYNE2140.9999517467670312072464685221
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203GALC140.999514091350831205888459423
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205ATXN3140.998158379373852108692537319, 92537322
206VRK1140.995801847187245119197304120-97304124
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208INF2140.2810666666666726963750105167703-105167731, 105167741-105167747, 105167764-105167802, 105167807-105167809, 105167824-105167835, 105167851-105167903, 105167943, 105167952-105168012, 105168041-105168055, 105168077-105168088, 105169454-105169502, 105169516-105169557, 105169632-105169668, 105169677, 105169680-105169682, 105169708-105169742, 105169753, 105169757-105169768, 105169780, 105169783-105169791, 105170260, 105170263, 105170265-105170286, 105172372-105172424, 105172444-105172459, 105172464, 105172480-105172503, 105173250-105173281, 105173331-105173365, 105173383, 105173593-105173594, 105173619-105173632, 105173676-105173729, 105173739-105174229, 105174236-105174339, 105174773-105174862, 105174874-105174924, 105175029-105175046, 105175049-105175064, 105175645-105175655, 105175957-105175981, 105175999-105176042, 105176425-105176525, 105177274-105177344, 105177416-105177523, 105177966-105177986, 105178009-105178036, 105178770-105178773, 105178778, 105178787, 105178820-105178879, 105178886, 105179165-105179194, 105179210, 105179225-105179329, 105179546-105179556, 105179565-105179572, 105179580-105179638, 105179646, 105179782-105179789, 105179799-105179872, 105179879-105179918, 105180540-105180556, 105180565, 105180579-105180580, 105180618-105180655, 105180676-105180713, 105180734-105180790, 105180803-105180852, 105180889, 105180911-105180940, 105180954-105180979, 105180984-105181000, 105181007-105181036, 105181058-105181082, 105181102-105181175, 105181648-105181676
209NIPA1150.802020202020219699023048991-23049008, 23086234-23086411
210TRPM1150.999792186201161481231332376
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213CDAN1150.99864277958745368443021791-43021795
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223POLG150.9889784946236641372089876824-89876864
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225BLM150.9795486600846387425491337443, 91337451-91337500, 91337537-91337572
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227HBA2160.73659673659674113429222912-222937, 222970, 222979-223006, 223124-223137, 223152-223169, 223214-223224, 223240-223243, 223246, 223472-223473, 223544-223551
228GNPTG160.814814814814811709181401967-1402018, 1402103-1402114, 1402127-1402160, 1402240-1402246, 1402251-1402257, 1402276-1402307, 1412262, 1412266-1412288, 1413052-1413053
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230IGFALS160.6045548654244376419321840627-1840667, 1840733-1840739, 1840751, 1840764-1840800, 1840928-1840969, 1841002-1841062, 1841103-1841108, 1841132-1841163, 1841220, 1841227-1841292, 1841310-1841326, 1841338-1841364, 1841418-1841425, 1841528-1841578, 1841605-1841641, 1841688-1841701, 1841753-1841768, 1841781, 1841858, 1841865, 1841868, 1841927-1841965, 1841969-1841977, 1842107-1842118, 1842144-1842174, 1842185-1842223, 1842253-1842264, 1842278-1842326, 1842355-1842407, 1842431-1842444, 1842471-1842495, 1843641-1843653
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233PKD1160.004414498141263912855129122139728-2140195, 2140286-2140591, 2140675-2140809, 2140885-2141175, 2141424-2141598, 2141782-2141907, 2142048-2142189, 2142481-2142593, 2142955-2143094, 2143545-2143739, 2143812-2143874, 2143884-2144014, 2144093-2144194, 2144200-2144211, 2147149-2147242, 2147320-2147504, 2147729-2147781, 2147869-2147985, 2149645-2149771, 2149862-2150072, 2150167-2150310, 2150397-2150567, 2152062-2152257, 2152382-2152634, 2152815-2152971, 2153267-2153896, 2154499-2154643, 2155323-2155475, 2155866-2156025, 2156092-2156305, 2156399-2156678, 2156806-2156949, 2157884-2158033, 2158253-2161872, 2162341-2162474, 2162789-2162964, 2163162-2163293, 2164171-2164926, 2165379-2165626, 2165993-2166119, 2166530-2166645, 2166834-2167054, 2167490-2167673, 2167792-2168463, 2168677-2168733, 2168745-2168846, 2169115-2169186, 2169308-2169379, 2185479-2185480, 2185494-2185540, 2185549-2185579, 2185588-2185690
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235MEFV160.99829497016198423463294491, 3294494, 3306344, 3306355
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237CREBBP160.997680447537181773293778440-3778442, 3778447-3778452, 3778932-3778934, 3779410-3779414
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240ABAT160.9940119760479915038870323-8870329, 8873434-8873435
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256HSD11B2160.85796387520525173121867465152-67465324
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391ETFB190.999039385206531104151857596
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406SPAST20.9918962722852515185132288989, 32288993-32289006
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410MSH220.999643493761141280547639670
411MSH620.9757531227038999408348010468-48010510, 48010526-48010558, 48010610-48010632
412EFEMP120.997300944669374148256144948-56144951
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414SPR20.98982188295165878673114844-73114851
415ALMS120.9996001279590551250473613032-73613034, 73827999, 73828342
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417GGCX20.998682476943353227785788014-85788016
418REEP120.996699669967260686564632-86564633
419EIF2AK320.999104744852283335188926730-88926732
420TMEM12720.963737796373782671796930996-96931002, 96931063, 96931074-96931081, 96931103-96931112
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422MERTK20.99166666666667253000112656319-112656320, 112656323, 112656325-112656346
423GLI220.960092417559341904761121708956-121708965, 121708981-121709016, 121712927-121712931, 121712968, 121726478, 121728120-121728128, 121729531, 121729633-121729639, 121745895-121745900, 121746151-121746170, 121746236-121746242, 121746513-121746528, 121746600-121746627, 121746678-121746684, 121746764-121746767, 121746837-121746838, 121746953-121746959, 121747339-121747350, 121747397-121747402, 121748039-121748043
424BIN120.924803591470261341782127808430, 127811508, 127811577-127811588, 127815049-127815055, 127815061-127815076, 127815080-127815083, 127815097, 127815121-127815122, 127815128, 127815138-127815162, 127816587, 127816619-127816647, 127827616-127827626, 127834216, 127864436-127864437, 127864478-127864491, 127864514-127864519
425PROC20.96825396825397441386128180494-128180504, 128180674-128180698, 128180850-128180855, 128183730, 128186482
426CFC120.69345238095238206672131279064-131279070, 131279074-131279080, 131279587, 131279620-131279703, 131280363-131280392, 131280436-131280460, 131280742-131280748, 131280751, 131280795-131280837, 131285350
427RAB3GAP120.99558723693143132946135848648-135848652, 135888284-135888291
428NEB20.998948633223192119974152432723-152432728, 152432780, 152432795, 152432831-152432832, 152432858-152432868
429SCN9A20.9998314796090315934167060678
430HOXD1320.92732558139535751032176957619-176957625, 176957635-176957661, 176957675-176957714, 176957822
431AGPS20.9974709155285851977178257592-178257594, 178257639-178257640
432TTN20.9998104700343119100248179415803, 179439708, 179455676, 179457130, 179464126, 179514893-179514905, 179644035
433CERKL20.98874296435272181599182468589-182468594, 182468695-182468698, 182468700-182468705, 182468719, 182468757
434COL5A220.9995555555555624500189940162-189940163
435HSPD120.98954703832753181722198351826-198351841, 198351879, 198351922
436CASP820.99257884972171121617202139625-202139628, 202141661-202141663, 202149616-202149620
437ABCA1220.9996147919876737788215846919, 215846922-215846923
438BCS1L20.9992063492063511260219525912
439CYP27A120.98245614035088281596219677045-219677046, 219677466-219677468, 219678810-219678812, 219678832, 219678836-219678838, 219678892-219678901, 219679295-219679299, 219679701
440WNT10A20.95454545454545571254219745753-219745774, 219757546-219757547, 219757551, 219757555, 219757560-219757575, 219757608, 219757611-219757612, 219757676-219757682, 219757690, 219757779-219757781, 219757880
441DES20.96461429582449501413220283185-220283209, 220283259-220283260, 220283267-220283268, 220283277, 220283701-220283720
442OBSL120.976454050254791345691220416320-220416326, 220416460-220416478, 220424016-220424017, 220435524-220435533, 220435671-220435675, 220435739-220435760, 220435806-220435808, 220435884-220435890, 220435896-220435954
443COL4A420.9998025276461315064227886782
444CHRND20.99099099099099141554233390937, 233390946-233390953, 233394678, 233394818, 233396112-233396114
445COL6A320.9996853366897439534238244875-238244877
446AGXT20.99151823579304101179241808704, 241810118, 241810121, 241816973-241816979
447D2HGDH20.840357598978292501566242689593-242689595, 242689599-242689605, 242689641-242689643, 242689686, 242690675, 242690681, 242690781-242690791, 242695312-242695318, 242695349, 242695373-242695391, 242695419, 242707125-242707177, 242707183-242707234, 242707262-242707299, 242707307-242707338, 242707365-242707384
448AVP200.92929292929293354953063340-3063357, 3063634-3063650
449PANK2200.983654407472272817133869933-3869940, 3869990-3869992, 3870241, 3870285-3870300
450SNTA1200.88471673254282175151832000389-32000404, 32000494-32000501, 32031162-32031187, 32031200-32031231, 32031306-32031339, 32031363-32031421
451GDF5200.999335989375831150634025124
452SAMHD1200.995746943115368188135539622, 35539715, 35540867-35540872
453ADA200.994505494505496109243252848, 43257760-43257763, 43280247
454CTSA200.997995991983973149744520238-44520240
455SLC2A10200.999384993849941162645353934
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457GNAS200.98915989159892873857415179-57415185, 57415812
458GNAS200.9842646114322449311457428968, 57429126, 57429136, 57429139, 57429208-57429222, 57429447-57429455, 57429661-57429663, 57429666-57429668, 57429683, 57429693, 57429758-57429765, 57430027-57430031
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460CHRNA4200.228768577494691453188461978090-61978096, 61978106, 61978111, 61978122, 61978125, 61978133-61978135, 61978138-61978156, 61978169-61978215, 61981005-61981035, 61981044-61981107, 61981119-61981141, 61981151-61981190, 61981195-61981243, 61981247-61981249, 61981255-61981261, 61981273-61981353, 61981363-61981486, 61981510-61981580, 61981589-61981633, 61981647-61981656, 61981669, 61981685-61981726, 61981732-61981733, 61981745-61981797, 61981809-61981822, 61981858-61981959, 61981976-61981994, 61982003-61982047, 61982080-61982081, 61982084-61982111, 61982124, 61982127-61982128, 61982138-61982151, 61982154, 61982161, 61982165-61982209, 61982239-61982249, 61982288, 61982314-61982371, 61987327-61987436, 61987723-61987767, 61990900-61991051, 61992442-61992517
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462SOX18200.34805194805195753115562679541, 62679555, 62679561-62679586, 62679629-62679649, 62679658, 62679743, 62679815-62679817, 62679820, 62679838-62679857, 62679868, 62679871-62679873, 62679922-62679977, 62680011-62680038, 62680045-62680111, 62680124-62680129, 62680138-62680266, 62680286-62680315, 62680512-62680869
463IFNGR2210.8974358974359104101434775850-34775922, 34793928-34793932, 34799191-34799197, 34799302, 34804522, 34804591-34804598, 34805054-34805062
464RCAN1210.928853754940715475935987083, 35987169-35987176, 35987264-35987308
465CLDN14210.99027777777778772037833277-37833283
466TMPRSS3210.9882783882783916136543795862, 43805531-43805545
467CBS210.99939613526571165644488639
468CSTB210.851851851851854429745196095, 45196098, 45196108-45196149
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475FTCD210.0430504305043051556162647556901-47556987, 47557153-47557188, 47557209-47557248, 47558422-47558560, 47558794-47558837, 47565331-47565492, 47565732-47565861, 47566180-47566241, 47570033-47570037, 47570043-47570164, 47570302-47570401, 47570407-47570439, 47571472-47571506, 47571515, 47571519, 47571522, 47571531, 47571534-47571651, 47571806-47571894, 47572821-47572949, 47574063-47574246, 47575384-47575420
476PCNT210.99510538407751491001147744194-47744195, 47769708-47769715, 47786683, 47786686-47786688, 47847654-47847657, 47848313, 47848358-47848371, 47848455-47848457, 47848498, 47850122-47850127, 47850132-47850136, 47855988
477PRODH220.83971159179146289180318900779-18900782, 18900785, 18900953-18900955, 18901001-18901039, 18904411-18904414, 18905975-18905981, 18907260-18907292, 18908855-18908878, 18908914-18908919, 18908933, 18909874, 18910345-18910359, 18910363, 18910366-18910367, 18910393-18910394, 18910397, 18912675, 18918637, 18918697-18918707, 18923528-18923589, 18923599, 18923602, 18923616, 18923640, 18923643-18923645, 18923650, 18923654-18923666, 18923700, 18923728-18923735, 18923745-18923751, 18923753, 18923756, 18923761-18923773, 18923781-18923797, 18923800
478GP1BB220.008051529790660361662119711093-19711102, 19711377-19711973, 19711979-19711987
479TBX1220.50537634408602736148819747167-19747184, 19748428-19748708, 19748731-19748737, 19753290-19753348, 19753425-19753469, 19753479-19753503, 19753516-19753525, 19753912-19754049, 19754065-19754098, 19754107-19754112, 19754115, 19754117-19754128, 19754182-19754208, 19754231, 19754269-19754334, 19754352-19754356, 19754361
480SMARCB1220.999136442141621115824145493
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482NF2220.9876957494407222178829999988-29999989, 29999992-29999993, 29999998, 30000033, 30000071-30000086
483TCN2220.9906542056074812128431003333-31003339, 31006979, 31011355, 31011591-31011593
484TIMP3220.99528301886792363633198047-33198048, 33198096
485LARGE220.9938353148392814227133673183-33673196
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487TRIOBP220.91983657368273569709838111893, 38119879-38119905, 38120150-38120185, 38121868, 38121927-38121930, 38121933-38121944, 38122020-38122028, 38122448-38122467, 38122499-38122504, 38129332, 38129343-38129358, 38129413-38129419, 38130483, 38130493, 38130526-38130530, 38130558-38130562, 38130565-38130574, 38130595, 38130598-38130602, 38130642-38130664, 38130674-38130755, 38130758-38130759, 38130773-38130783, 38130806-38130808, 38130907-38130971, 38130984-38130987, 38130990-38130994, 38131012-38131037, 38131051-38131080, 38131154, 38131237-38131247, 38131277-38131285, 38131289, 38131358-38131364, 38131380-38131437, 38137014, 38147779-38147781, 38147792-38147815, 38153919-38153949, 38161766, 38161769, 38161804, 38161807
488SOX10220.999286224125621140138379391
489PLA2G6220.1390593047034842148938508274-38508312, 38508511-38508584, 38509494-38509548, 38509554-38509654, 38509667-38509718, 38509731, 38509736, 38509739-38509765, 38509771, 38509791-38509829, 38509839-38509869
490PLA2G6220.67699297810822782242138508168-38508312, 38508511-38508584, 38509494-38509548, 38509554-38509654, 38511534-38511578, 38511593-38511617, 38511646-38511688, 38512082-38512089, 38512146-38512157, 38512207-38512218, 38516839, 38516895-38516916, 38519102, 38519108-38519265, 38522438, 38522453, 38524402-38524407, 38524416-38524419, 38525520-38525522, 38528905-38528941, 38529004-38529008, 38530995-38531015, 38536054, 38536094
491ADSL220.999312714776631145540757337
492EP300220.998895790200148724541489081-41489088
493TNFRSF13C220.3621621621621635455542321430, 42322105-42322326, 42322642-42322649, 42322655-42322777
494CYB5R3220.958057395143493890643026890-43026904, 43027395-43027396, 43045301-43045321
495ATXN10220.999299719887961142846067990
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497ALG12220.9413769597818786146750301592, 50303611-50303630, 50303708, 50303719, 50303732-50303736, 50304147, 50307128-50307129, 50307270, 50307276, 50307307-50307327, 50307353-50307384
498MLC1220.9726631393298131113450502483-50502511, 50502566-50502567
499SCO2220.928838951310865780150962416-50962431, 50962521-50962522, 50962526-50962537, 50962649-50962657, 50962823-50962840
500TYMP220.43754313319531815144950964199-50964347, 50964430-50964438, 50964447-50964570, 50964675-50964905, 50965005, 50965015-50965055, 50965064-50965095, 50965111-50965137, 50965145-50965167, 50965594-50965596, 50965625, 50965630-50965638, 50965697-50965712, 50966143-50966144, 50967573-50967579, 50967608-50967615, 50967631-50967632, 50967644, 50967668-50967671, 50967682-50967687, 50967689-50967717, 50967737-50967738, 50967741-50967761, 50967927-50967982, 50968021, 50968114-50968123
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503FANCD230.9891304347826148441610088264-10088311
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515LAMB230.9968501019084717539749159130, 49160463, 49160570-49160576, 49162886-49162892, 49168391
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521TKT30.9839743589743630187253269019-53269026, 53289858-53289879
522HESX130.99641577060932255857232518-57232519
523FLNB30.999103598412097780957994427-57994428, 57994439, 57994456, 57994462, 58134013, 58134073
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525ROBO230.999033115784384413777638050-77638053
526PROS130.9876907927129525203193605199-93605205, 93617388-93617405
527CPOX30.99853479853482136598312143-98312144
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530FOXL230.97612732095491271131138664867-138664893
531IFT8030.999570446735412328160018809
532MCCC130.9981634527089142178182804522-182804525
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536OPA130.99606299212598123048193355042-193355053
537CPN230.99389499389499101638194061879-194061882, 194061887, 194061891, 194062187-194062189, 194062194
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540FGFR340.6353522867737988524271795662-1795683, 1795689-1795727, 1795739-1795750, 1795753-1795754, 1795757, 1800981-1801032, 1801078-1801120, 1801123, 1801140-1801151, 1801185-1801250, 1801477, 1801481-1801488, 1801497-1801516, 1801522, 1801528, 1803094, 1803097, 1803135-1803214, 1803222-1803228, 1803351-1803397, 1803443-1803464, 1803590, 1803650-1803660, 1803676, 1803679, 1803686-1803721, 1803749-1803752, 1804721-1804727, 1804775, 1806057-1806104, 1806153-1806191, 1806572-1806575, 1806594, 1806637-1806677, 1806686, 1807082-1807085, 1807149, 1807286-1807289, 1807315-1807349, 1807391-1807393, 1807480, 1807486, 1807489, 1807564-1807572, 1807613-1807651, 1807894, 1808036-1808054, 1808356-1808366, 1808571, 1808577-1808585, 1808600, 1808624-1808627, 1808630-1808632, 1808658-1808661, 1808865-1808886, 1808897-1808922, 1808932-1808980, 1808988-1808989
541SH3BP240.987614431879382318572819960-2819978, 2820043, 2820058-2820060
542HTT40.9708346590306527594293076553-3076558, 3076593-3076603, 3076604-3076780, 3208311, 3208320, 3213783, 3213797, 3213800, 3234960, 3235052, 3240177, 3240180-3240185, 3240263, 3240330-3240333, 3240591, 3240595-3240616, 3240632-3240661, 3241733, 3241773-3241775, 3241779-3241781, 3241785-3241786
543DOK740.4825082508250878415153465111-3465156, 3465233-3465278, 3475133-3475145, 3475157, 3475160-3475163, 3475287-3475295, 3475307, 3475359, 3478069-3478072, 3478079-3478121, 3478139-3478197, 3478204-3478243, 3478269, 3494490, 3494494, 3494497-3494508, 3494533-3494549, 3494552, 3494555, 3494574-3494596, 3494604-3494711, 3494731-3494733, 3494738-3494740, 3494763-3494765, 3494772-3494782, 3494787-3494799, 3494805-3494855, 3494869-3494881, 3494884-3494887, 3494910-3494961, 3494985-3495059, 3495070-3495121, 3495124-3495151, 3495185-3495228
544DOK740.319796954314724025913494490, 3494494, 3494497-3494508, 3494533-3494549, 3494552, 3494555, 3494574-3494596, 3494604-3494711, 3494731-3494733, 3494738-3494740, 3494763-3494765, 3494772-3494782, 3494787-3494799, 3494805-3494855, 3494869-3494881, 3494884-3494887, 3494910-3494961, 3494985-3495059, 3495070-3495079
545EVC40.99932863376972229795713108, 5713113
546WFS140.991021324354662426736279203-6279208, 6279270, 6279346-6279360, 6293723-6293724
547PKD240.997936016511876290788928964, 88928968, 88928971, 88929000, 88929010-88929011
548CISD240.9142156862745135408103808511-103808522, 103808565-103808587
549CFI40.99372146118721111752110673628-110673638
550MFSD840.98843930635838181557128859973-128859985, 128859992-128859993, 128861011, 128861147-128861148
551CTSO40.998964803312631966156874978
552GK40.9993983152827911662166199812
553SDHA50.905764411027571881995218497-218533, 223682-223683, 224630-224636, 233689-233697, 240518-240524, 240574-240580, 251108-251114, 251214-251218, 251466-251506, 251562-251583, 254571-254612, 256472, 256509
554SLC6A1950.5154855643044692319051201773-1201967, 1208887-1208888, 1208891-1208896, 1208913, 1208921, 1208932-1208933, 1208956, 1208963-1209001, 1210559-1210571, 1210584-1210588, 1210598-1210695, 1212421-1212427, 1212467-1212505, 1212520-1212548, 1212554-1212588, 1212594-1212599, 1213578-1213688, 1214068-1214169, 1214175-1214180, 1216673, 1216708, 1216783, 1216794, 1216930-1216951, 1217030-1217044, 1219018-1219089, 1219125-1219126, 1219130-1219133, 1219149, 1219153, 1219165, 1219168, 1219208-1219222, 1219620-1219635, 1219674-1219697, 1219704-1219731, 1219741-1219753, 1221273-1221274, 1221367-1221369, 1221820
555TERT50.45219182112386186233991253850-1253870, 1253923, 1253929-1253943, 1254517-1254563, 1254602, 1258717, 1258725-1258767, 1264528-1264536, 1264569-1264596, 1264633-1264640, 1264667, 1264674, 1264705, 1266579-1266627, 1268635, 1268638-1268642, 1268648-1268649, 1268654-1268655, 1268659-1268713, 1268720-1268722, 1268736-1268737, 1268740, 1271234-1271319, 1272300-1272395, 1278756-1278786, 1278796-1278797, 1278816-1278839, 1278846-1278852, 1278861, 1278885, 1278888-1278893, 1278900-1278911, 1279406-1279585, 1280275-1280432, 1280440-1280453, 1282544-1282560, 1282598-1282605, 1282630-1282640, 1282645, 1282663-1282698, 1282710-1282716, 1282731-1282739, 1293438-1293441, 1293557-1293589, 1293626-1293661, 1293678-1293704, 1293715-1293761, 1293917-1293919, 1293947-1293950, 1293959, 1293967, 1294001-1294016, 1294020-1294062, 1294118-1294121, 1294159-1294187, 1294190, 1294214-1294287, 1294305-1294314, 1294330, 1294345-1294347, 1294352, 1294418-1294419, 1294432-1294489, 1294519-1294781, 1294886-1294932, 1294955-1295104
556SLC6A350.8448738593666128918631406321-1406344, 1406362-1406403, 1409154-1409185, 1409235-1409240, 1409851-1409887, 1409910-1409928, 1409944, 1409956, 1414808, 1414828, 1414854-1414872, 1414877, 1414889, 1420718-1420751, 1420777-1420778, 1420788-1420791, 1421997-1421999, 1422003, 1422006-1422013, 1422021, 1422024, 1422030-1422032, 1422041, 1422057-1422067, 1422097-1422129, 1432632-1432633
557SDHA50.90214067278287323271589426-1589432, 1593261-1593267, 1594528-1594545
558NDUFS650.88453751801559-1801596, 1801641, 1801662, 1802435-1802439
559DNAH550.99704504504505411387513916507-13916547
560ANKH50.999323867478031147914745999
561FAM134B50.9912985274431113149416616896-16616908
562SLC1A350.999386126457951162936674153
563NIPBL50.9942959001782548841536995872, 37036481-37036488, 37036560-37036578, 37048661-37048663, 37048666-37048667, 37048670-37048673, 37048767-37048777
564LIFR50.998178506375236329438482718-38482722, 38502828
565ITGA250.999717992103781354652351896
566ERCC850.994962216624696119160200650-60200655
567SMN250.99887005649718188569362949
568SMN250.99887005649718188570238373
569MCCC250.998226950354613169270883253-70883255
570HEXB50.995810891681637167173981221-73981227
571GPR9850.9996300406955271892190144454-90144455, 90144595-90144599
572LMNB150.93356047700171171761126113201-126113202, 126113241-126113255, 126113377-126113409, 126113428, 126113431-126113441, 126113452-126113480, 126113489-126113514
573FBN250.999885570431418739127702105
574SLC22A550.96654719235364561674131705665-131705681, 131705819, 131705865-131705889, 131705957, 131705965, 131706011-131706017, 131706056, 131724666-131724668
575MYOT50.98062792251169291497137221859, 137221863-137221890
576ADRB250.9927536231884191242148207495-148207503
577TCOF150.948117539026632264356149748279, 149748285, 149748353-149748392, 149748410-149748458, 149751750, 149754326-149754331, 149754334, 149754659, 149755038, 149755059-149755063, 149755076-149755077, 149755081, 149755092-149755101, 149758884, 149758898, 149758905-149758928, 149767596, 149767600-149767601, 149767605-149767606, 149767651, 149769552, 149771672-149771675, 149771705-149771722, 149776015-149776050, 149776120-149776121, 149776208-149776213, 149776397, 149776401-149776405, 149777932, 149778002
578NKX2-550.992820512820517975172659919-172659921, 172659927-172659930
579F1250.9243986254295544582176829632, 176830301-176830316, 176830351-176830377
580F1250.760822510822514421848176829632, 176830301-176830316, 176830351-176830386, 176830499-176830528, 176830586-176830590, 176830593, 176830866-176830894, 176830909-176830925, 176830972-176830995, 176831007-176831013, 176831025-176831068, 176831075-176831083, 176831239-176831264, 176831303-176831341, 176831500, 176831504-176831513, 176831517-176831518, 176831527-176831546, 176831564-176831635, 176832055-176832081, 176832361-176832378, 176832749, 176832795, 176832971-176832976
581GRM650.97114654517844762634178408667-178408682, 178408808, 178413444, 178413462, 178413894-178413901, 178413904, 178421579-178421599, 178421659-178421684, 178421770
582SQSTM150.879062736205591601323179247937-179247963, 179247987-179247991, 179247995-179247999, 179248012-179248018, 179248035-179248103, 179248124-179248141, 179249992, 179249998-179250000, 179250035-179250053, 179251000-179251003, 179251220, 179252203
583FLT450.270283479960929864092180038472, 180038475, 180039586-180039587, 180039600, 180043394-180043407, 180043439, 180043453-180043489, 180043900, 180043937-180043979, 180045770-180045920, 180046021-180046085, 180046097-180046109, 180046256-180046366, 180046665-180046769, 180047173-180047216, 180047229-180047308, 180047609-180047661, 180047669-180047715, 180047876-180048007, 180048106-180048172, 180048185-180048252, 180048542-180048736, 180048745-180048751, 180048759-180048835, 180048844-180048904, 180049731-180049839, 180050935-180051009, 180051012-180051022, 180051040-180051061, 180052869-180052898, 180052910-180053031, 180053111-180053265, 180055882-180055999, 180056259-180056427, 180056696-180056835, 180056943-180057105, 180057225-180057337, 180057555-180057734, 180057753-180057799, 180058682-180058778, 180076488-180076545
584FOXC160.728038507821945216621610681-1610684, 1610703-1610785, 1610871-1610896, 1610901, 1610984-1610990, 1611070, 1611079-1611106, 1611145-1611190, 1611270-1611280, 1611291, 1611354-1611380, 1611403-1611430, 1611456-1611494, 1611519-1611543, 1611566-1611581, 1611597, 1611602-1611606, 1611609, 1611654-1611665, 1611669-1611678, 1611695, 1611698, 1611702, 1611713-1611722, 1611796-1611827, 1611889-1611894, 1612018-1612021, 1612036, 1612099, 1612105, 1612111-1612114, 1612119, 1612142-1612156, 1612183, 1612189
585TUBB2B60.99476831091181713383225602-3225608
586DSP60.997446610956362286167563975-7563979, 7568107, 7576633-7576639, 7579689-7579697
587ATXN160.996323529411769244816327862, 16327865-16327867, 16327909, 16327916-16327918, 16327921
588TNXB60.87091757387247249192931976916, 31976926, 31976972-31976976, 31977077-31977098, 31977164-31977195, 31977367-31977395, 31977525-31977555, 31977621, 31977624, 31977786-31977792, 31977873, 31977994-31978001, 31978046, 31978292-31978300, 31978498-31978517, 31978599, 31978947-31978948, 31979447-31979482, 31979497-31979526, 31979983, 31980074-31980075, 31980081, 31980084, 31980090-31980091, 31980096-31980099
589CYP21A260.92069892473118118148832006200-32006202, 32006211-32006255, 32006317, 32006337, 32006959-32006985, 32007203, 32007403-32007410, 32008184-32008202, 32008237, 32008688-32008699
590TNXB60.949328305444266451272932009648-32009664, 32009710, 32009789-32009790, 32009800-32009833, 32009899-32009930, 32010102-32010130, 32010232-32010246, 32010259-32010262, 32010272, 32010282, 32010286, 32010299, 32010355, 32010358, 32010365, 32010520-32010526, 32010592, 32010607, 32010728-32010735, 32010780, 32011214-32011225, 32011231-32011269, 32011332-32011333, 32011784-32011811, 32012303-32012336, 32012350-32012380, 32012480, 32012949-32012955, 32014113-32014117, 32014168-32014176, 32014208-32014233, 32015522-32015524, 32015527-32015534, 32017076-32017079, 32017930-32017931, 32020681-32020693, 32023628-32023640, 32023705, 32023735-32023737, 32023865-32023875, 32023881, 32024522, 32024628, 32025835-32025840, 32025852-32025886, 32025919-32025962, 32025989-32026014, 32026046, 32026049, 32026052-32026054, 32026058-32026060, 32026067-32026097, 32026103-32026108, 32026120-32026123, 32026139-32026142, 32029174-32029177, 32029197-32029209, 32029218, 32029226, 32029378-32029395, 32029415, 32032612-32032627, 32035461-32035473
591HLA-DQA160.957031253376832609169, 32609173, 32609181, 32609277-32609279, 32609952, 32609969, 32609974, 32610387-32610406, 32610436, 32610534-32610535, 32610538
592HLA-DQB160.8307888040712513378632629124-32629173, 32629224-32629234, 32629764, 32629802, 32629809, 32629859, 32629889, 32629891, 32629904-32629905, 32629920, 32629955, 32632575-32632621, 32632650, 32632659-32632660, 32632682, 32632724, 32632740, 32632743-32632744, 32632781-32632782, 32632795, 32632820, 32634300-32634302
593COL11A260.999808098253691521133140139
594SYNGAP160.97371031746032106403233388042-33388108, 33411516-33411530, 33411670-33411692, 33411698
595FANCE60.9894475481067717161135420406-35420421, 35425360
596TULP160.92510742786986122162935467776, 35473800-35473810, 35473812-35473816, 35478665, 35478764-35478765, 35479427, 35479435, 35479450, 35479559-35479566, 35479570-35479577, 35479957-35479968, 35479978-35480027, 35480046-35480047, 35480436-35480442, 35480466-35480467, 35480589-35480590, 35480602-35480608, 35480613
597MOCS160.77760334903192425191139876861, 39880689-39880695, 39883812-39883821, 39883937, 39883945, 39883957, 39883973-39883976, 39893422-39893589, 39895068-39895164, 39895183-39895317
598PRPH260.993275696445737104142672162-42672168
599RSPH960.888086642599289383143612841-43612876, 43612879, 43612896-43612940, 43613052-43613062
600RUNX260.9872286079182620156645390466, 45390469, 45390472, 45390481-45390494, 45390521-45390523
601MUT60.999112294718152225349409578, 49409642
602EYS60.999788023317442943565016974-65016975
603RIMS160.999409332545783507972945430-72945431, 73001682
604SLC17A560.9677419354838748148874304904, 74331684-74331685, 74345112-74345140, 74345167-74345172, 74345177-74345181, 74345194-74345197, 74354152
605LCA560.999522445081181209480202342
606BCKDHB60.996607294317224117980877517-80877520
607RARS260.999424294761081173788228448
608OSTM160.9950248756218951005108395800, 108395843, 108395849-108395850, 108395855
609FIG460.999265785609422724110053840-110053841
610PEX760.994855967078195972137143900-137143904
611IYD60.998850574712641870150713626
612TBP60.901960784313731001020170871010-170871109
613LFNG70.1877192982456192611402559496-2559927, 2564329-2564360, 2564867, 2564876-2564952, 2565059-2565061, 2565064-2565128, 2565140-2565141, 2565150-2565187, 2565319-2565322, 2565340-2565395, 2565403-2565404, 2565878-2565941, 2565952-2565966, 2566000-2566036, 2566474-2566541, 2566787, 2566795-2566796, 2566820-2566846
614PMS270.969100038624958025896026393, 6026622-6026661, 6026775, 6026942, 6029433-6029457, 6029469, 6042143-6042145, 6043383-6043389, 6048643
615TWIST170.7405582922824315860919156559-19156565, 19156573-19156574, 19156669-19156671, 19156751-19156764, 19156783, 19156798-19156924, 19156934-19156937
616DNAH1170.99926318891836101357221603863-21603871, 21630561
617HOXA1370.78748928877464248116727239076-27239082, 27239119-27239125, 27239191, 27239199-27239206, 27239221-27239222, 27239259, 27239263, 27239270, 27239306, 27239317-27239379, 27239389-27239424, 27239441-27239483, 27239500-27239505, 27239527-27239529, 27239537-27239576, 27239594-27239613, 27239651-27239658
618GLI370.999367488931063474342005638-42005640
619GCK70.9528907922912266140144184792, 44186066-44186089, 44186201-44186217, 44187249-44187252, 44187361, 44191875-44191876, 44191895, 44191908, 44193009-44193023
620CCM270.73333333333333356133545039933-45039962, 45077999-45078002, 45104160, 45113081-45113094, 45113114-45113170, 45113869, 45113880, 45113894-45113929, 45113943-45113950, 45113971-45114007, 45115376-45115383, 45115388-45115393, 45115400-45115431, 45115514-45115523, 45115540-45115572, 45115579-45115656
621EGFR70.997797963115888363355087031, 55220299-55220305
622GUSB70.999488752556241195665440025
623ASL70.45232974910394764139565546874-65546900, 65546927-65546941, 65546964, 65547404-65547438, 65547870-65547888, 65548064-65548076, 65548125-65548126, 65548129-65548135, 65548142, 65548146, 65548151-65548153, 65551572, 65551611-65551641, 65551757-65551793, 65551804-65551808, 65552321-65552336, 65552353, 65552730-65552778, 65553794-65553797, 65553815-65553908, 65554078-65554135, 65554146-65554162, 65554263-65554283, 65554296, 65554311, 65554599-65554635, 65554654-65554682, 65556993-65557044, 65557054, 65557066-65557073, 65557555-65557579, 65557583, 65557616, 65557619-65557650, 65557755-65557772, 65557784-65557805, 65557817-65557859, 65557865-65557899
624KCTD770.950574712643684387066094052-66094058, 66094134-66094162, 66094178-66094184
625NCF170.8413282572637927-72637929, 72639804-72639821, 72639921-72639922, 72639957-72639996, 72640032-72640039, 72643703-72643711, 72644230-72644253, 72645927, 72648724-72648750
626ELN70.93977011494253131217573442518-73442599, 73456946, 73466080-73466087, 73466121, 73466129, 73466262-73466291, 73466313, 73467609-73467610, 73467615-73467617, 73467623, 73474710
627NCF170.85166240409207174117374193486-74193503, 74193645-74193680, 74197310, 74197388, 74197955, 74199564, 74199603, 74202386-74202430, 74202903-74202936, 74202989, 74202993-74203007, 74203010, 74203032-74203044, 74203383, 74203389, 74203395-74203397, 74203437
628POR70.5712187958884876204375608792, 75608860-75608878, 75609657-75609659, 75609710-75609736, 75609749-75609779, 75610368-75610397, 75610464-75610488, 75611615-75611619, 75612860-75612879, 75612917, 75612929-75612938, 75613062-75613097, 75613150, 75613153, 75613161-75613174, 75614095-75614106, 75614130-75614172, 75614180-75614276, 75614376-75614384, 75614387-75614388, 75614405-75614486, 75614510-75614525, 75614922-75614962, 75614965-75615053, 75615063-75615110, 75615138-75615167, 75615241-75615294, 75615368-75615386, 75615479-75615509, 75615532-75615536, 75615548-75615554, 75615659-75615683, 75615705, 75615754-75615782, 75615788-75615799
629HSPB170.893203883495156661875932070-75932072, 75932204-75932249, 75932272-75932275, 75932382-75932392, 75933170-75933171
630AKAP970.99701467076083351172491690683-91690703, 91690722, 91694605, 91694609-91694611, 91699441, 91699444-91699449, 91707173, 91714014
631COL1A270.9917093391855634410194030879, 94055735-94055761, 94058610-94058611, 94058695-94058697, 94058741
632SGCE70.994100294985258135694252648-94252655
633TFR270.9995843724023312406100238691
634RELN70.9999036330346110377103194235
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699LHX390.681555004135653851209139089180-139089184, 139089192-139089234, 139089305, 139089319-139089336, 139089342, 139089352-139089354, 139089358-139089359, 139089373, 139089391-139089409, 139089422, 139089428, 139089442-139089471, 139089538-139089540, 139089552, 139089555, 139089558-139089580, 139090553-139090559, 139090633-139090663, 139090769-139090799, 139090810-139090815, 139090842-139090863, 139090873-139090905, 139091662-139091664, 139091667, 139091676, 139091694, 139092492, 139092495, 139094792-139094885
700INPP5E90.4341085271317810951935139324735-139324737, 139324740, 139324747, 139325528-139325534, 139325544-139325547, 139325558, 139326284-139326317, 139326340-139326437, 139326931-139326966, 139326997-139327011, 139327029, 139327034, 139327037-139327038, 139327412, 139327415, 139327487-139327524, 139327642-139327648, 139327681-139327686, 139327693, 139327712-139327731, 139328489-139328508, 139328522-139328548, 139328578-139328586, 139329198, 139329216-139329257, 139329312, 139333060-139333276, 139333286-139333378, 139333393-139333444, 139333450-139333469, 139333487-139333535, 139333544-139333683, 139333702-139333703, 139333706-139333726, 139333738-139333844, 139333856-139333871
701NOTCH190.09937402190923369067668139390523-139390605, 139390611-139390639, 139390677-139390680, 139390704-139390731, 139390747-139391007, 139391030-139391053, 139391065-139391129, 139391135-139391152, 139391156-139391164, 139391167-139391168, 139391177-139391179, 139391182, 139391202, 139391206, 139391209-139391222, 139391231-139391271, 139391298-139391337, 139391343-139391721, 139391734, 139391749-139391752, 139391757-139391785, 139391796-139392010, 139393351-139393381, 139393420, 139393428-139393429, 139393437, 139393441, 139393448, 139393564-139393629, 139393662-139393708, 139395004-139395287, 139395296-139395299, 139396200-139396365, 139396453-139396540, 139396724-139396739, 139396751-139396796, 139396808-139396851, 139396872-139396940, 139397654, 139397666-139397734, 139397768-139397782, 139399126-139399322, 139399330-139399481, 139399493-139399556, 139399762-139399927, 139399934-139400293, 139400301-139400333, 139400979-139401091, 139401168-139401200, 139401209-139401256, 139401260-139401274, 139401280-139401337, 139401364, 139401379-139401425, 139401766-139401804, 139401808-139401817, 139401821, 139401841, 139401844-139401887, 139402407-139402409, 139402412-139402417, 139402444-139402446, 139402451, 139402463-139402591, 139402684-139402706, 139402714-139402736, 139402741, 139402756, 139402761-139402775, 139402804-139402837, 139403322-139403492, 139403515-139403521, 139404185-139404342, 139404350-139404355, 139404374-139404413, 139405105-139405257, 139405604-139405635, 139405642, 139405650-139405693, 139405699-139405723, 139407473-139407586, 139407844-139407989, 139408962-139409154, 139409742-139409852, 139409935-139410168, 139410433-139410484, 139410490-139410546, 139411724-139411837, 139412204-139412377, 139412384-139412389, 139412589-139412704, 139412710-139412744, 139413043-139413276, 139413895-139414017, 139417302-139417640, 139418169-139418431, 139438476-139438531, 139438539-139438554, 139440178-139440238
702AGPAT290.14336917562724717837139568204-139568213, 139568216, 139568220, 139568225-139568241, 139568246, 139568263-139568379, 139569187-139569231, 139569259, 139571037-139571038, 139571050-139571051, 139571055-139571056, 139571061, 139571073-139571132, 139571413-139571421, 139571429-139571498, 139571508-139571560, 139571566-139571588, 139571875-139571956, 139571959, 139571965-139571998, 139572006-139572008, 139581628-139581809
703SLC34A390.19514491800140126173-140126176, 140126180, 140126188, 140126207-140126239, 140126549, 140126568-140126597, 140127027-140127062, 140127069-140127101, 140127123, 140127127-140127131, 140127134-140127155, 140127236-140127246, 140127270-140127299, 140127308-140127348, 140127353-140127359, 140127362-140127374, 140127377-140127379, 140127466, 140127479-140127521, 140127528, 140127531, 140127661-140127690, 140127699-140127760, 140127781-140127816, 140127826-140127856, 140128085-140128174, 140128315-140128393, 140128561-140128728, 140128868-140128897, 140128904, 140128913-140128915, 140128938-140128984, 140129059-140129062, 140129071-140129170, 140129179-140129182, 140130404-140130455, 140130462-140130750, 140130764-140130868
704EHMT190.794200667179888023897140513481-140513501, 140605419-140605421, 140605439-140605482, 140611078-140611634, 140622808-140622816, 140622840-140622869, 140622922-140622935, 140622939-140622950, 140622966-140622981, 140637823-140637824, 140638419, 140669654-140669676, 140671165-140671168, 140671254-140671280, 140672344, 140672363-140672398, 140707849-140707850
705SHOXX0.71217292377702253879591633-591643, 591654-591661, 591671-591677, 591693-591707, 591731-591755, 591761-591871, 591894-591901, 595376-595388, 595431-595449, 595471-595487, 595518-595523, 595540-595549, 595556-595558
706CSF2RAX0.5072796934865964313051401597-1401606, 1401626, 1401631, 1401644, 1401648, 1401671, 1404671-1404698, 1404735, 1404739, 1404757-1404758, 1404780-1404803, 1407482-1407492, 1407695, 1407698-1407701, 1407735-1407767, 1409247-1409269, 1409299-1409358, 1409381-1409382, 1409389-1409391, 1413221-1413309, 1413330-1413354, 1414320, 1414348-1414349, 1419384-1419519, 1422154-1422255, 1422823-1422824, 1422834-1422868, 1422871, 1422875, 1422891-1422912, 1424402-1424420
707PHKA2X0.9967637540453112370818912335-18912341, 18912508-18912512
708ARXX0.9840142095914727168925031648-25031671, 25031777-25031779
709RPGRX0.72043943336224967345938144793-38144803, 38144824-38144830, 38145055-38145092, 38145099, 38145124-38145143, 38145150, 38145202-38145205, 38145208, 38145216, 38145219, 38145228-38145248, 38145271-38145323, 38145338-38145679, 38145686-38145882, 38145906-38145908, 38145933-38145945, 38145955-38145957, 38145966-38146059, 38146104-38146109, 38146164-38146185, 38146212-38146235, 38146273-38146293, 38146328-38146334, 38146339, 38146374, 38146379-38146395, 38146433-38146440, 38146476-38146498, 38147144-38147156, 38147179-38147187, 38147199, 38156677-38156678, 38158267
710NYXX0.9571230982019462144641332942-41332947, 41333041-41333060, 41333102-41333106, 41333276, 41333279-41333304, 41333987-41333990
711PQBP1X0.9937343358396579848759771-48759775
712FGD1X0.99757449757457288654494255-54494261
713ARX0.999276149113282276366765159, 66765165
714NLGN3X0.999195818254932248770384147-70384148
715TAF1X0.9957761351636724568270586193-70586216
716XIAPX0.9993306559571611494123040948
717ZIC3X0.9950142450142571404136648985-136648987, 136651084-136651087
718SOX3X0.9985085756897821341139586164-139586165
719FAM58AX0.9619047619047628735152864455-152864470, 152864508-152864519
720SLC6A8X0.900943396226421891908152954030-152954033, 152954048-152954049, 152954094-152954115, 152954121-152954187, 152954199-152954212, 152956768-152956769, 152959621-152959625, 152959630-152959632, 152959687-152959722, 152959857-152959863, 152959988-152960007, 152960176-152960182
721ABCD1X0.99061662198391212238152990955-152990961, 152991255-152991261, 153008981-153008987
722L1CAMX0.98092209856916723774153130583-153130597, 153130603, 153133772, 153135032-153135041, 153135511-153135533, 153135638-153135643, 153136513-153136520, 153136581-153136587, 153136603
723AVPR2X0.97401433691756291116153171399-153171407, 153171762-153171781
724MECP2X0.98931195724783161497153296205-153296211, 153296217, 153363096-153363103
725OPN1MWX0.9990867579908711095153461430
726FLNAX0.859516616314211167944153577787-153577813, 153577877-153577916, 153577922-153577927, 153578207-153578224, 153580551-153580557, 153580563, 153580568, 153580622, 153580625, 153580633, 153580744-153580763, 153580957-153580977, 153581013, 153581018, 153581032-153581034, 153581383-153581403, 153581421-153581425, 153581481-153581520, 153581718-153581720, 153581723-153581725, 153581736-153581737, 153581757-153581767, 153581984-153581993, 153582654-153582659, 153582758-153582765, 153582836-153582851, 153582984, 153582997-153583000, 153583029-153583032, 153583193-153583195, 153583218-153583225, 153583228, 153583334-153583428, 153585803-153585812, 153585837-153585838, 153585908-153585914, 153586629-153586638, 153586641, 153586671-153586674, 153586835-153586837, 153586865-153586866, 153587513-153587522, 153587691-153587692, 153587707-153587710, 153587859-153587866, 153587939-153587956, 153587977-153588006, 153588118-153588119, 153588128-153588132, 153588145, 153588156-153588177, 153588220-153588249, 153588253, 153588387-153588433, 153588514, 153588518-153588542, 153588592-153588613, 153588647-153588656, 153588661, 153588665, 153588675-153588679, 153588783, 153588792-153588803, 153588846-153588867, 153589679-153589685, 153589821-153589822, 153589882-153589938, 153590070-153590093, 153590350-153590354, 153590392-153590410, 153590610-153590615, 153590641, 153590653-153590669, 153590812-153590813, 153590878, 153591045-153591055, 153592652, 153592907-153592913, 153592958-153592961, 153593081-153593083, 153593086, 153593275-153593279, 153593717-153593744, 153593769-153593780, 153593790-153593791, 153593810, 153594813-153594816, 153594934-153594936, 153594939-153594940, 153594943-153594951, 153595100-153595104, 153595129-153595134, 153595778-153595791, 153595836-153595846, 153596017-153596019, 153596079-153596083, 153596234, 153596248, 153596291-153596302, 153596347-153596360, 153596449-153596458, 153599389-153599396, 153599401-153599403, 153599422-153599426, 153599449-153599509, 153599537-153599543, 153599588-153599594
727EMDX0.9254901960784357765153608050-153608081, 153608130-153608133, 153608142, 153608146-153608154, 153608601, 153609436-153609444, 153609532
728TAZX0.8998732572877179789153640236-153640241, 153640482-153640538, 153641875-153641886, 153647959-153647962
729GDI1X0.97916666666667281344153665614-153665641
730G6PDX0.998168498168531638153760215-153760217
VariantPhase/
Zygosity
Allele freqImpactEvaluationSummary / Info
5PGAM2-G97Dhet unknown0.008Dominant
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests
3COL4A1-Q1334Hhet unknown0.325Dominant
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.16 (benign), Testable gene in GeneTests with associated GeneReview
3COL4A1-T555Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
3MTRR-I49Mhomozygous0.451Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
3MTRR-S202Lhomozygous0.328Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2PCSK9-G670Ehomozygous0.888Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2MEFV-R202Qhomozygous0.178Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.019 (benign), Testable gene in GeneTests with associated GeneReview
2TAS2R38-I296Vhomozygous0.463Unknown
benign
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.984 (probably damaging)
2TAS2R38-A49Phomozygous0.431Unknown
benign
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
2APOB-S4338Nhomozygous0.802Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-I2313Vhet unknown0.981Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-Y1422Chomozygous1.000Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-T98Ihet unknown0.247Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-LAL12Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2TP53-P72Rhomozygous0.628Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.127 (benign), Testable gene in GeneTests with associated GeneReview
2SP110-M579Ihet unknown0.059Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-L425Shomozygous0.863Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-G299Rhomozygous0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-E207Khet unknown0.089Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-A206Vhet unknown0.213Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-A128Vhet unknown0.071Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-W112Rhomozygous0.917Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2KEL-T193Mhet unknown0.032Dominant
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging)
1.5NOD2-P268Shet unknown0.197Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1.5NOD2-R702Whet unknown0.033Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.97 (probably damaging), Testable gene in GeneTests
1.5BRCA2-T1915Mhet unknown0.021Unknown
protective
Low clinical importance,
uncertain
Summary for this variant not displayed. It may contain a Unicode character preventing it from being properly processed.
1.5BRCA2-V2466Ahomozygous0.977Dominant
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1.5CILP-G1166Shet unknown0.734Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5CILP-Q979Rhomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5CILP-K575Ehomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5CILP-I395Thomozygous0.632Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5BANK1-R61Hhomozygous0.283Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5BANK1-A383Thomozygous0.295Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.778 (possibly damaging)
1.5BANK1-C650Rhomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5AKAP10-I646Vhomozygous0.452Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5AKAP10-R249Hhomozygous0.446Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.125RP1-T373Ihet unknown0.012Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.972 (probably damaging), Testable gene in GeneTests
1.125RP1-N985Yhet unknown0.349Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.958 (probably damaging), Testable gene in GeneTests
1.125RP1-C2033Yhet unknown0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests
1NRIP1-R448Ghomozygous0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
1KRTAP7-1-Y17ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1TGIF1-P83Shifthet unknown0.139Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests with associated GeneReview
1TGIF1-P292Shet unknown0.060Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HPS1-Q604Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HPS1-P491Rhet unknown0.096Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.983 (probably damaging), Testable gene in GeneTests with associated GeneReview
1HPS1-V4Ahet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.827 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1OPN1MW-M153Lhomozygous0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.031 (benign), Testable gene in GeneTests with associated GeneReview
1ARMS2-R3Hhet unknown0.096Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1ARMS2-A69Shet unknown0.207Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1ATP8B1-A1152Thomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ATP8B1-R952Qhet unknown0.083Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
1HTT-G893Rhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests with associated GeneReview
1HTT-V1064Ihet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1KCP-D621Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1KCP-K395Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1KCP-H313ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1KCP-A16ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZCCHC16-L27Phomozygous0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZCCHC16-D162Yhomozygous0.166Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.981 (probably damaging)
1ZCCHC16-N204Dhomozygous0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.965 (probably damaging)
1PIK3R6-L609ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1EVC-Q74Phomozygous0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests
1EVC-Y258Hhomozygous0.706Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests
1EVC-T449Khomozygous0.852Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1DGKK-L1014ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1NR_027127-W61*homozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
1INSR-A2GhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
1SP100-V399ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SP100-M433Vhet unknown0.247Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
1SP100-M826Thomozygous0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1KCNJ11-V337Ihet unknown0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1KCNJ11-L270Vhet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1KCNJ11-K23Ehet unknown0.738Unknown
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HSH2D-S223Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1HLA-DQA1-L8Mhomozygous0.498Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-A11Thet unknown0.067Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-C34Yhet unknown0.450Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-F41Shomozygous0.425Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-Y48Fhet unknown0.141Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-E63Ghet unknown0.255Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-A68Vhomozygous0.354Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-RW70CLhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-RW70CLhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-EF73VLhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-EF73VLhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-S75Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-SK75RQhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-KF76RLhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-G78Rhomozygous0.182Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-G79DelhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-G84Fhomozygous0.122Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-R87Thomozygous0.259Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-M89Ihomozygous0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-IM98SLhomozygous0.066Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-Y103Shomozygous0.211Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-T130Ihet unknown0.242Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-Q152Hhomozygous0.407Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-Q198Ehet unknown0.390Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-Q198Ehet unknown0.390Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-M230Vhomozygous0.700Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-Q241Rhomozygous0.421Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-V235Ihomozygous0.178Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-G157Ahomozygous0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-D89Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-R87Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-R87Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-Q85LhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-P84Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-F41Yhomozygous0.782Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-S27Thomozygous0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-V15Ahomozygous0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-D12Ghomozygous0.400Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1COL11A2-P1316Thet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ZNF167-N494ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF167-GT84AAhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1CLECL1-S52Shifthomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ELAC2-S217Lhet unknown0.273Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.025 (benign), Testable gene in GeneTests
1PKP2-L366Phet unknown0.221Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1PKP2-S70Ihet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TNXB-R48PhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1PCDH11Y-V917FhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1PCDH11Y-N1012KhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1SEBOX-L207Shomozygous0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SEBOX-W10ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1HNF1A-I27Lhomozygous0.260Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1HNF1A-S487Nhomozygous0.246Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1HNF1A-S574Ghomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1GABRG2-I215VhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1GABRG2-G235Chet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1RYK-L17ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1B3GNT6-E59Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1B3GNT6-L316ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1B3GNT6-L335ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1CEP290-K838Ehet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ZNF204P-E93QhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ZNF204P-K6ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1KRT4-G160GAGGFGAGFGTGGFGhomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1TYR-S192Yhomozygous0.271Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.919 (probably damaging), Testable gene in GeneTests with associated GeneReview
1FRMD7-S281Lhomozygous0.074Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.265 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1AK094748-D110Ahomozygous0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1AK094748-S134Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1AK094748-S209Shifthomozygous0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF480-C3ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF480-P177Shet unknown0.181Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.486 (possibly damaging)
1CYP2B6-R22Chet unknown0.048Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.639 (possibly damaging)
1CYP2B6-G99Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1CYP2B6-K262Rhet unknown0.043Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ZNF761-L47ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF761-I122Shomozygous0.686Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF761-V168Ihomozygous0.770Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF761-G528Shet unknown0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF761-E603Qhet unknown0.403Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1TG-G653Dhet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests
1TG-S734Ahomozygous0.592Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1TG-R988Hhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.178 (benign), Testable gene in GeneTests
1TG-M1028Vhomozygous0.591Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
1TG-D1312Ghomozygous0.456Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1TG-D1838Nhet unknown0.374Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.061 (benign), Testable gene in GeneTests
1TG-W2501Rhomozygous0.614Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.031 (benign), Testable gene in GeneTests
1TG-R2530Qhet unknown0.572Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
1C14orf104-D768GhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1C14orf104-E62DhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1DPYD-V732Ihet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.905 (probably damaging), Testable gene in GeneTests
1DPYD-R29Chomozygous0.714Complex/Other
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1GPHB5-F53Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ATG9B-A765ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1VSIG10L-Q860ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1VSIG10L-R592Qhomozygous0.563Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1VSIG10L-M356Ihomozygous0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1VSIG10L-N3Thomozygous0.605Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1GSTM1-K173Nhomozygous0.264Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1HRNR-S799Thomozygous0.725Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-R664Qhomozygous0.748Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-G492Rhomozygous0.748Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-E473Ghomozygous0.950Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-G427Dhet unknown0.480Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-Q376Rhomozygous0.950Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-H273Qhet unknown0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-R85Hhomozygous0.726Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.078 (benign)
1HRNR-M1ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1GLDC-L462Vhomozygous0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-D2222Ghet unknown0.045Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-M1764Vhet unknown0.291Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-N817Thet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-Q534Rhomozygous0.978Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-M413Thet unknown0.058Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HR-Q528Rhomozygous0.077Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.293 (possibly damaging)
1HR-L526Phomozygous0.210Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1HR-C397Yhomozygous0.071Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.928 (probably damaging)
1PGAM4-R86Hhomozygous0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
1PADI6-V343Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1KDM5C-R1546QhomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1LAMB3-A966Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1LAMB3-R754Whet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.854 (probably damaging), Testable gene in GeneTests with associated GeneReview
1LAMB3-R230Thet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.908 (probably damaging), Testable gene in GeneTests with associated GeneReview
1TCEAL6-Q175Shifthomozygous0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1BC112980-K147ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1CHIT1-V357V*het unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation, Testable gene in GeneTests
1CHIT1-G102Shet unknown0.281Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.057 (benign), Testable gene in GeneTests
1C14orf184-E123ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1PLEKHA2-P389Shifthomozygous0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1LAMC2-D247Ehet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.328 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1CFH-V62Ihet unknown0.392Complex/Other
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CFH-H402Yhet unknown0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1C19orf55-G398ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1NEFL-S472ShifthomozygousUnknown
benign
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0.75EDN1-K198Nhet unknown0.206Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.75BLMH-I443Vhet unknown0.285Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75COMT-V158Mhet unknown0.448Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75CHRNA5-D398Nhet unknown0.249Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.625NOTCH2-P210Lhet unknown0.333Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.625NOTCH2-A21Thet unknown0.208Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.625NOTCH2-P6Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0.5SPG11-F463Shomozygous0.480Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SPG11-E370Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CD19-L174Vhomozygous0.768Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SEPT1-G80Vhet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.946 (probably damaging)
0.5DUOX2-S1067Lhet unknown0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DUOX2-R701Qhet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DUOX2-H678Rhet unknown0.182Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DUOX2-P138Lhet unknown0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TTBK2-L8Phomozygous0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AARS-G931Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AARS-M370Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABAT-Q56Rhomozygous0.514Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FANCI-A86Vhet unknown0.283Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCI-C742Shet unknown0.287Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCI-I877Lhet unknown0.092Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GUCY2D-L782Hhomozygous0.216Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PDE8A-L55Vhet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ABCC6-M848Vhomozygous0.962Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC6-V614Ahet unknown0.458Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5STRC-Q84Rhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BBS4-K46Rhet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5BBS4-I354Thet unknown0.529Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CX3CL1-A62Vhet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.993 (probably damaging)
0.5TAF1C-R722Hhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5TAF1C-L481Mhomozygous0.292Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TAF1C-C24Yhomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NR2E3-T318Shifthomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift, Testable gene in GeneTests
0.5HYDIN-E4159Qhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-T4004Ahet unknown0.432Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-Q3904Shifthet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.5HYDIN-M3868Rhet unknown0.306Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-V3839Lhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-V3741Ihet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-A3738Thet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-L3315Phet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-A3290Phet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-E2993Ghet unknown0.064Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-I2693Shet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-K2588Rhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-D2569Nhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-G2557Ehet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-K2529Ehet unknown0.135Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-T2520Lhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HYDIN-L2501Shet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-P2454Qhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HYDIN-N2444Ihet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HYDIN-R2297Ghet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.997 (probably damaging)
0.5HYDIN-Q2275Rhet unknown0.125Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.955 (probably damaging)
0.5HYDIN-Q2241Rhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HYDIN-V2098Mhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HYDIN-R2086Chet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.998 (probably damaging)
0.5HYDIN-V1717Mhet unknown0.113Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.651 (possibly damaging)
0.5HYDIN-I1533Vhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HYDIN-P1491Hhet unknown0.369Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.994 (probably damaging)
0.5HYDIN-V1228Lhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-I1077Vhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.082 (benign)
0.5HYDIN-N724Dhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.955 (probably damaging)
0.5HYDIN-T690Ahet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.955 (probably damaging)
0.5HYDIN-T584Nhet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.955 (probably damaging)
0.5HYDIN-M15Thet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
0.5HEXA-I436Vhomozygous0.867Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5APH1B-F217Lhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.865 (probably damaging)
0.5FBN1-C472Yhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CTNS-VE17AAhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CTNS-T260Ihomozygous0.828Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SALL1-V1275Ihomozygous0.988Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCA-G501Shomozygous0.483Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RPGRIP1L-T1143Shet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WDR45L-H165Rhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5RAI1-G90Ahet unknown0.415Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RAI1-P165Thet unknown0.339Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5PRX-G1132Rhomozygous0.955Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRX-P1083Rhet unknown0.130Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.793 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5PRX-I921Mhet unknown0.364Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRX-V882Ahet unknown0.609Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.014 (benign), Testable gene in GeneTests with associated GeneReview
0.5ERCC2-K751Qhet unknown0.319Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ERCC2-D312Nhet unknown0.235Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.032 (benign), Testable gene in GeneTests with associated GeneReview
0.5SIX5-V693Mhet unknown0.343Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.086 (benign), Testable gene in GeneTests with associated GeneReview
0.5SIX5-P635Shet unknown0.401Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.891 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5SIX5-L556Vhomozygous0.871Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FCGBP-P4788Shet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5FCGBP-P4620Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5FCGBP-S4284Ahomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.02 (benign)
0.5FCGBP-N2089Dhomozygous0.115Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FCGBP-S1961Phomozygous0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5FCGBP-T1524Nhet unknown0.100Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.244 (possibly damaging)
0.5FCGBP-Q1385Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5DLL3-F172Chet unknown0.153Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.981 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5DLL3-L218Phet unknown0.593Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ACTL9-R271Phet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5PGLYRP2-H464Yhet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5CPAMD8-T1315Ihomozygous0.633Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CPAMD8-S1103Ahet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CPAMD8-H593Rhomozygous0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CPAMD8-D586Ehomozygous0.317Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CPAMD8-V369Mhet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CPAMD8-V355Ihet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CPAMD8-R341Qhet unknown0.316Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.814 (possibly damaging)
0.5CPAMD8-R341Whet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5CPAMD8-M312Thomozygous0.823Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AGRN-R1739Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AGRN-G1743Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZNF114-R244Qhet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.917 (probably damaging)
0.5FAM83E-P311Lhet unknown0.098Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5FAM83E-T91Ahomozygous0.343Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TPO-A373Shomozygous0.404Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5TPO-S398Thomozygous0.785Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.988 (probably damaging), Testable gene in GeneTests
0.5KLF11-Q62Rhet unknown0.094Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.986 (probably damaging), Testable gene in GeneTests
0.5HADHB-T2TThet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC5A6-L573Fhet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging)
0.5ZNF530-T64Ahet unknown0.260Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.827 (possibly damaging)
0.5ZNF530-H110Qhomozygous0.801Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF530-T169Mhet unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5CACNG6-C252Shet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5ETFB-P94Shifthet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
0.5AK054965-R105Phet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5AK054965-R6Shifthet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5FPR1-E346Ahomozygous0.799Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FPR1-R190Whet unknown0.113Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FPR1-I11Thomozygous0.773Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF528-G443Ahet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.969 (probably damaging)
0.5ADAMTS10-H1101Qhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZFR2-I718Mhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.943 (probably damaging)
0.5ZFR2-R521Chet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5BRCA1-S1634Ghet unknown0.298Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BRCA1-K1183Rhet unknown0.295Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BRCA1-E1038Ghet unknown0.278Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.462 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5BRCA1-P871Lhet unknown0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BRCA1-D693Nhet unknown0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview
0.5SLC4A1-K56Ehet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PNPO-R116Qhet unknown0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.953 (probably damaging), Testable gene in GeneTests
0.5AP1S2-T35Ahet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AP1S2-R29Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRT14-C63Yhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KRT13-T298Ahomozygous0.913Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRT13-A187Vhet unknown0.692Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRT13-A146Ghet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KCNJ12-E56Ahet unknown0.341Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5KCNJ12-R118Hhet unknown0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5KCNJ12-D173Nhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.577 (possibly damaging)
0.5KCNJ12-E289Qhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5KCNJ12-T290Mhet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.01 (benign)
0.5KCNJ12-V297Ihet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.427 (possibly damaging)
0.5KCNJ12-M302Ihet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.99 (probably damaging)
0.5KCNJ12-E334Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5KCNJ12-D402Ehet unknown0.379Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.013 (benign)
0.5KCNJ12-S405Ihet unknown0.402Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.101 (benign)
0.5SLFN5-R655Ghet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5SLFN5-A797Vhet unknown0.082Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MED24-T300Mhet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.944 (probably damaging)
0.5KRT10-GHGG490Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRT10-H487Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
0.5KRT10-H487Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
0.5KRT10-I101Shomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5BRIP1-S919Phomozygous0.612Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BRIP1-V193Ihet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.013 (benign), Testable gene in GeneTests with associated GeneReview
0.5SCN4A-N1376Dhomozygous0.602Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SCN4A-S524Ghomozygous0.916Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DSG3-S771Fhet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5DSG3-T912Ahomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5DSG2-R773Khomozygous0.194Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5MYO5B-M1688Vhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO5B-L1055LLhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO5B-R918Hhet unknown0.099Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO5B-T126Ahomozygous0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KISS1R-L364Hhomozygous0.884Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DSC2-R798Qhet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.433 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5DSC3-R102Khomozygous0.327Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DSC3-S78Thomozygous0.325Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.314 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5COG1-N392Shet unknown0.530Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COG1-E453Qhet unknown0.065Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.11 (benign), Testable gene in GeneTests with associated GeneReview
0.5TSEN54-K347Nhet unknown0.535Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.968 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5TSEN54-A437Vhomozygous0.659Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5TSEN54-S443Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PLA2G4E-A39Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PLA2G4E-C5Rhet unknown0.356Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LAMA3-N2815Khet unknown0.152Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LAMA3-S2834Ghomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IRS2-G1057Dhomozygous0.233Unknown
protective
Low clinical importance,
uncertain
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).
0.5ZFYVE19-R48Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ZFYVE19-S376Ahomozygous0.752Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5CHAT-A120Thet unknown0.184Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.013 (benign), Testable gene in GeneTests with associated GeneReview
0.5CHAT-V461Mhomozygous0.961Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5UNC5B-I242Vhet unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.97 (probably damaging)
0.5SLC29A3-R18Ghet unknown0.488Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC29A3-S158Fhomozygous0.618Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC29A3-V239Ihomozygous0.864Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC29A3-I326Vhet unknown0.893Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CDH23-S494Nhet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-N1349Dhomozygous0.813Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-R1434Qhet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-A1572Thomozygous0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-V1672Ihet unknown0.139Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-T1996Shet unknown0.414Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PTCHD3-*768Qhomozygous0.630Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTCHD3-I584Mhomozygous0.960Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTCHD3-M521Thomozygous0.631Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTCHD3-D473Ghomozygous0.630Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.849 (possibly damaging)
0.5PTCHD3-C407Ghet unknown0.419Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.5PTCHD3-S309Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5MYO3A-R319Hhet unknown0.488Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO3A-I348Vhomozygous0.680Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO3A-V369Ihet unknown0.661Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO3A-S956Nhet unknown0.520Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO3A-T1284Shet unknown0.395Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.5MYO3A-R1313Shomozygous0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5OBSCN-Q502Rhomozygous0.628Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.98 (probably damaging)
0.5OBSCN-V1508Dhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
0.5OBSCN-F2116Lhet unknown0.707Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.182 (benign)
0.5OBSCN-R2529Qhet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.989 (probably damaging)
0.5OBSCN-R2812Whet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5OBSCN-ES3372DChet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5OBSCN-H4381Rhet unknown0.752Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.99 (probably damaging)
0.5OBSCN-C4450Rhet unknown0.745Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.907 (probably damaging)
0.5OBSCN-R4534Hhet unknown0.256Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.515 (possibly damaging)
0.5OBSCN-S4642Chet unknown0.747Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.058 (benign)
0.5OBSCN-R4662Chet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.838 (possibly damaging)
0.5OBSCN-D4962Ghet unknown0.740Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.467 (possibly damaging)
0.5OBSCN-V5733Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5OBSCN-Q5891Ehet unknown0.548Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.027 (benign)
0.5AGT-M268Thomozygous0.561Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5EDARADD-M9Ihomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CUBN-S2717Whomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-C2162Yhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-P1975Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-P1559Shet unknown0.743Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-P389Thet unknown0.588Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-F253Shet unknown0.703Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5OPTN-K322Ehomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PDE6C-S270Thomozygous0.391Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PLCE1-R1575Phomozygous0.476Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PLCE1-T1777Ihomozygous0.321Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PLCE1-H1927Rhomozygous0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.5SLC6A5-G102Shomozygous0.369Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-F124Shomozygous0.799Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-A162Ghomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALX4-P102Shet unknown0.302Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALX4-R35Thet unknown0.419Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5PEX16-V254Lhet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PEX16-V116Ihomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AGBL2-M671Ihomozygous0.570Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AGBL2-L480Phet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.967 (probably damaging)
0.5INSC-D333Nhet unknown0.060Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.985 (probably damaging)
0.5MRVI1-L325Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MRVI1-P186Shet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5MRVI1-A70Thomozygous0.965Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MRVI1-I11Vhomozygous0.772Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CYP2C8-I264Mhet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.951 (probably damaging)
0.5ABCC2-Y39Fhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5COL17A1-D1370Ghet unknown0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-M703Vhomozygous0.715Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-T210Mhet unknown0.580Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5H19-G355Rhomozygous0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5H19-V94Ihomozygous0.361Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5H19-W38Rhomozygous0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BAG3-C151Rhomozygous0.149Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BAG3-A155Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-M3868Vhet unknown0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-T3835Ihet unknown0.203Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.157 (benign), Testable gene in GeneTests with associated GeneReview
0.5USH2A-E3411Ahomozygous0.573Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-I2169Thet unknown0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-I2106Thomozygous0.698Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-I1665Thet unknown0.112Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.3 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5USH2A-R1486Khet unknown0.607Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.063 (benign), Testable gene in GeneTests with associated GeneReview
0.5USH2A-D644Vhet unknown0.059Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.137 (benign), Testable gene in GeneTests with associated GeneReview
0.5USH2A-A125Thet unknown0.719Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PIGR-G365Shomozygous0.373Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.998 (probably damaging)
0.5PIGR-V346Ihet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.208 (possibly damaging)
0.5LEPRE1-G349Rhet unknown0.065Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.805 (possibly damaging), Testable gene in GeneTests
0.5MUTYH-S488Fhet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MUTYH-Q311Hhet unknown0.253Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.017 (benign), Testable gene in GeneTests
0.5POMGNT1-M623Vhomozygous0.940Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TMEM61-E40Khet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.955 (probably damaging)
0.5EPB41-V214Ihet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.899 (probably damaging)
0.5SEPN1-C108Yhomozygous0.788Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SEPN1-N467Khomozygous0.629Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5H6PD-D151Ahet unknown0.110Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.292 (possibly damaging)
0.5H6PD-R453Qhet unknown0.309Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.5H6PD-P554Lhet unknown0.088Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.966 (probably damaging)
0.5CLSTN1-G176Ehet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5MTHFR-A222Vhet unknown0.272Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.858 (probably damaging), Testable gene in GeneTests
0.5PADI4-G55Shet unknown0.544Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PADI4-V82Ahet unknown0.552Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PADI4-R131Thet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.065 (benign)
0.5PADI4-Y309Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.988 (probably damaging)
0.5CROCC-R7Ghomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CROCC-LE1031RKhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CROCC-E1037Qhet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.891 (probably damaging)
0.5CROCC-R1049Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CROCC-T1072Mhet unknown0.059Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.994 (probably damaging)
0.5ALG6-S306Fhomozygous0.738Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DBT-S384Ghomozygous0.858Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USP21-P91Shet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.979 (probably damaging)
0.5IER5-V168Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5IER5-Q202Rhomozygous0.980Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5IER5-P285Shet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5ASPM-L2647Ihet unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ASPM-S2562Ghet unknown0.317Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ASPM-Y2494Hhomozygous0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CACNA1S-L458Hhet unknown0.273Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RHBG-G76Dhet unknown0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RHBG-F81Lhet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5RHBG-P424Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5RHBG-H428Rhet unknown0.637Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PMF1-Q75Rhet unknown0.473Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PMF1-R150Chet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5COL11A1-S1547Phomozygous0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL11A1-P1335Lhet unknown0.448Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL11A1-K276Nhet unknown0.080Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5EPS8L3-M35Ihet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.5PTPN22-W620Rhomozygous0.934Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FLG-Q1914Rhet unknown0.068Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IGSF3-Q1093Rhet unknown0.236Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5IGSF3-V920Mhet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5MS4A14-I56Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5MS4A14-N177Yhet unknown0.640Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.981 (probably damaging)
0.5MS4A14-G584Rhet unknown0.574Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5CD6-P105Lhet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5CD6-R225Whet unknown0.406Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.024 (benign)
0.5CD6-A257Vhet unknown0.552Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CD6-A271Thet unknown0.140Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5CD6-T539Ahet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5JPH4-A502Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PCK2-Q121Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5C14orf23-K115Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5C14orf23-K116Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5COCH-T352Shomozygous0.509Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYH6-A1130Thet unknown0.083Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYH6-V1101Ahomozygous0.461Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-E1253Ghet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-S1195Phet unknown0.618Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-R1055Chet unknown0.554Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-N307Khet unknown0.297Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ARL11-C148Rhet unknown0.384Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.153 (benign)
0.5ARL11-W149*het unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5ATP7B-V1140Ahomozygous0.585Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATP7B-R952Khomozygous0.575Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATP7B-K832Rhomozygous0.555Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.461 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5ATP7B-V456Lhomozygous0.405Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5ATP7B-S406Ahomozygous0.401Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5UTP14C-G85Vhomozygous0.633Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5UTP14C-R319Hhet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5PARP2-D235Ghet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.676 (possibly damaging)
0.5ALK-D1529Ehomozygous0.433Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALK-K1491Rhet unknown0.223Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview
0.5ALK-I1461Vhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PAX9-A240Phomozygous0.311Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SIX6-H141Nhomozygous0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview
0.5SPATA7-D2Nhomozygous0.290Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.665 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5MOAP1-V197Mhet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging)
0.5OCA2-R305Whet unknown0.082Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5AVEN-Q228Rhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.97 (probably damaging)
0.5GALC-T641Ahomozygous0.959Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GALC-D248Nhet unknown0.115Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.972 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5GALC-A21Phet unknown0.086Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.163 (benign), Testable gene in GeneTests with associated GeneReview
0.5TSHR-E727Dhomozygous0.920Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SYNE2-I574Thet unknown0.081Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.294 (possibly damaging), Testable gene in GeneTests
0.5SYNE2-M1969Thomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests
0.5SYNE2-A2284Vhomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.289 (possibly damaging), Testable gene in GeneTests
0.5SYNE2-S2359Nhomozygous0.769Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests
0.5SYNE2-A2395Thomozygous0.880Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SYNE2-S2802Ghomozygous0.914Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.012 (benign), Testable gene in GeneTests
0.5SYNE2-I2942Vhomozygous0.723Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SYNE2-D3253Hhomozygous0.740Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.933 (probably damaging), Testable gene in GeneTests
0.5SYNE2-H3309Rhomozygous0.742Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5MTHFD1-K134Rhomozygous0.831Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MTHFD1-R653Qhomozygous0.376Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.008 (benign)
0.5RDH12-R161Qhet unknown0.119Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.941 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5MLH3-P844Lhet unknown0.443Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5MLH3-N826Dhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZFYVE26-N1891Shomozygous0.942Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZFYVE26-C1457Yhet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests
0.5ZFYVE26-C1159Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
0.5SPERT-S286*het unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5SPERT-K329Ehet unknown0.599Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5B3GALTL-E370Khomozygous0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.088 (benign), Testable gene in GeneTests with associated GeneReview
0.5SNX19-L878Rhomozygous0.809Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-N753Shomozygous0.633Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-L618Fhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-P480Lhet unknown0.162Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.977 (probably damaging)
0.5SNX19-S407Ghet unknown0.161Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-D396Ehet unknown0.162Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-G381Shet unknown0.161Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5SNX19-V361Lhomozygous0.712Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5B4GALNT3-R992Hhet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5WNK1-T1056Phomozygous0.850Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-C1506Shomozygous0.985Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-M1808Ihet unknown0.432Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-T1381Ahomozygous0.712Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-Q852Rhomozygous0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-H484Rhomozygous0.503Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.83 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5ANKK1-G318Rhet unknown0.369Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.5ANKK1-H367Qhet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5ANKK1-G442Rhet unknown0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ANKK1-H490Rhet unknown0.385Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5ATM-D1853Nhet unknown0.100Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATM-N1983Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ROM1-G118Ahomozygous0.938Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests
0.5MEN1-T546Ahomozygous0.908Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYO7A-L16Shet unknown0.470Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYO7A-S1666Chet unknown0.588Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYO7A-L1954Ihomozygous0.549Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TRPC6-P15Shet unknown0.061Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TRIM64-V238Mhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TRIM64-E242Vhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TRIM64-Q358Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TRIM64-Q405Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5GNB3-G272Shet unknown0.053Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.184 (benign)
0.5SLCO1B3-S112Ahomozygous0.718Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLCO1B3-M233Ihomozygous0.718Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.131 (benign)
0.5HPD-T33Ahomozygous0.902Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KNTC1-K245Nhet unknown0.154Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.289 (possibly damaging)
0.5KNTC1-V2021Ghet unknown0.079Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5SGCG-N287Shomozygous0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SACS-V3369Ahomozygous0.204Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.769 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5BBS10-P539Lhet unknown0.054Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.19 (benign), Testable gene in GeneTests with associated GeneReview
0.5KRT5-D197Ehet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.5GYS2-M363Vhomozygous0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LRRK2-R50Hhomozygous0.964Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-S1647Thet unknown0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-M2397Thet unknown0.614Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL2A1-T9Shomozygous0.791Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KRT83-H493Yhomozygous0.751Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRT83-I279Mhet unknown0.409Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LARP4-A9Shet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5LARP4-F351Lhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.99 (probably damaging)
0.5ATP4A-V265Ahomozygous0.927Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ATP4A-P240Hhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.929 (probably damaging)
0.5XPC-Q939Khomozygous0.643Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5XPC-A499Vhet unknown0.203Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5XPC-R492Hhet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ADH1B-H48Rhomozygous0.963Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MTTP-I128Thet unknown0.266Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MTTP-H297Qhet unknown0.495Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MTTP-G661Shet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MANBA-T701Mhomozygous0.552Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NAAA-F334Lhomozygous0.766Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NAAA-R153Hhet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5AFP-K187Qhet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.852 (probably damaging)
0.5TXNDC3-C208Rhet unknown0.787Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TXNDC3-I493Thet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.074 (benign), Testable gene in GeneTests with associated GeneReview
0.5EPHA5-N81Thet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.978 (probably damaging)
0.5GHRHR-M422Thet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5UGT2B7-Y268Hhomozygous0.207Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HADH-L86Phomozygous0.847Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CFI-T300Ahomozygous0.965Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HEXB-L62Shomozygous0.968Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AP3B1-V585Ehomozygous0.932Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5GPR98-L1093Fhet unknown0.731Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-V1951Ihet unknown0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-N1985Dhet unknown0.192Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.5GPR98-L2004Fhet unknown0.234Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.841 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5GPR98-N2584Shet unknown0.735Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-G3248Dhet unknown0.140Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5GPR98-E3471Khet unknown0.758Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-E5344Ghet unknown0.937Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5GPR98-V5427Mhomozygous0.972Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-E34Lhomozygous0.368Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-T1038Ahomozygous0.816Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-N2641Shomozygous0.529Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-V3715Lhomozygous0.603Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-M4172Vhomozygous0.718Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-A4322Thet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AMACR-E277Khomozygous0.756Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AMACR-Q239Hhet unknown0.118Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AMACR-L201Shomozygous0.748Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AMACR-G175Dhet unknown0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AMACR-V9Mhet unknown0.415Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NR3C2-V180Ihomozygous0.899Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TDO2-N229Hhet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.851 (probably damaging)
0.5AGA-T149Shomozygous0.923Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DNAH5-I4450Vhet unknown0.528Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH5-A4134Vhet unknown0.461Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH5-L2862Fhomozygous0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-T558Ahet unknown0.330Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.791 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-G24Ehet unknown0.393Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH5-H12Qhomozygous0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GLI3-T183Ahomozygous0.666Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CCM2-V53Ihet unknown0.067Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.007 (benign), Testable gene in GeneTests with associated GeneReview
0.5BC032716-Y42Shifthet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5HGD-Q80Hhomozygous0.745Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CYP3A7-R409Thomozygous0.762Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NR_015394-G45Whet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NR_015394-F74Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NR_015394-T113Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CLCN1-G118Whomozygous0.983Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5XIRP1-Q754Phet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5XIRP1-A722Vhet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5XIRP1-Q346Rhomozygous0.995Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF620-Q355Hhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5MCPH1-R171Shomozygous0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-R304Ihet unknown0.118Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5MCPH1-D314Hhet unknown0.681Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.136 (benign), Testable gene in GeneTests with associated GeneReview
0.5MCPH1-D392Ghomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-T682Nhet unknown0.131Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5MCPH1-A761Vhet unknown0.408Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AF035281-S47Shifthet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5AF035281-Q119Rhomozygous0.697Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZXDC-P562Lhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.98 (probably damaging)
0.5ZXDC-P118Ahomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NDUFB5-T34Phet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5EGFR-R521Khet unknown0.203Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TLR1-S602Ihet unknown0.485Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TLR1-N248Shet unknown0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5TLR1-I57Mhet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.923 (probably damaging)
0.5DDC-M17Vhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IDUA-R239Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IDUA-VT316APhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KIAA0226-T709Mhet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.947 (probably damaging)
0.5KIAA0226-R77Hhet unknown0.097Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.5COL1A2-P522Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL1A2-P549Ahomozygous0.798Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCB1-S893Ahomozygous0.683Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MCCC1-H464Phomozygous0.584Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5WBSCR28-I14Nhomozygous0.635Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5WBSCR28-W78Rhomozygous0.610Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.022 (benign)
0.5WBSCR28-G137Shet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.866 (probably damaging)
0.5PCSK1-S690Thet unknown0.235Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.061 (benign), Testable gene in GeneTests
0.5PCSK1-Q665Ehet unknown0.247Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ERAP2-K392Nhomozygous0.542Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ERAP2-N501Shifthet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CCHCR1-R506Qhet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5CCHCR1-E364Dhet unknown0.195Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CCHCR1-S253Rhet unknown0.409Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CCHCR1-W78*homozygous0.488Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.5AKD1-R1299Qhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5AKD1-S504Fhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.957 (probably damaging)
0.5AKD1-S493Phet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.912 (probably damaging)
0.5AIM1-E1196Ahomozygous0.930Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.015 (benign)
0.5AIM1-L1235Phet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.919 (probably damaging)
0.5HLA-L-H17Rhet unknown0.260Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HLA-L-I30Vhet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HLA-L-R38Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5HLA-L-A142Vhet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HLA-L-W144*het unknown0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.5HLA-L-C172Yhet unknown0.253Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HLA-H-Q61Rhet unknown0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-R100Chet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-L145Rhet unknown0.293Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-A147Vhet unknown0.278Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-S182Whet unknown0.392Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-C238Shet unknown0.729Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5F13A1-E652Qhet unknown0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5F13A1-V651Ihet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NHLRC1-P111Lhet unknown0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.992 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5ZFP57-R187Chet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-G-T282Mhet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.968 (probably damaging)
0.5HSPA1L-T493Mhomozygous0.873Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5CYP21A2-R103Khet unknown0.229Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CYP21A2-S494Nhet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RSPH9-V261Ihet unknown0.063Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ENPP5-R39Phet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5PKHD1-Q4048Rhomozygous0.524Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-Q3899Rhomozygous0.522Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-H3160Yhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-L1870Vhomozygous0.952Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-A1262Vhomozygous0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-R760Chomozygous0.386Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CUL7-R1232Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CUL7-Q813Rhomozygous0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PEX6-P939Qhet unknown0.430Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PEX6-A809Vhet unknown0.081Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PEX6-A79Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-T2714Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-R1255Hhet unknown0.089Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-H1161Rhomozygous0.477Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC17A5-V296Ihet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.173 (benign), Testable gene in GeneTests with associated GeneReview
0.5MOCS1-R439Qhet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRPH2-D338Ghet unknown0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRPH2-R310Khomozygous0.931Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRPH2-Q304Ehet unknown0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PROP1-N20Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RSPH4A-R556Hhet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5RSPH4A-L589Phomozygous0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OPRM1-N40Dhet unknown0.096Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5OPRM1-Q402Hhomozygous0.820Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5OPRM1-Y419Chet unknown0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5AX746964-G175Shifthet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5AX746964-K166Ihet unknown0.628Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AX746964-P133Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PCDH12-R860Qhet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.982 (probably damaging)
0.5PCDH12-H385Nhomozygous0.635Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC22A2-S270Ahomozygous0.881Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5IL13-Q144Rhomozygous0.811Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5WDR36-L25Phet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EIF2AK1-K558Rhet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.974 (probably damaging)
0.5DMXL1-V2067Mhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging)
0.5DMXL1-T2107Shet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.5PARK2-D394Nhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview
0.5SPINK5-Q267Rhomozygous0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-A335Vhomozygous0.440Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-S368Nhomozygous0.428Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-K420Ehomozygous0.433Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-R711Qhomozygous0.545Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ADRB2-G16Rhet unknown0.413Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5ADRB2-E27Qhet unknown0.661Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5SGCD-R96Qhet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MSX2-M129Thomozygous0.753Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5F12-A207Phomozygous0.976Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FAT2-P4117Lhomozygous0.653Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT2-M3631Ihomozygous0.683Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.129 (benign)
0.5FAT2-L3514Shomozygous0.689Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT2-F2428Shomozygous0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT2-Y1181Hhomozygous0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT2-R368Khet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.968 (probably damaging)
0.5GM2A-I59Vhomozygous0.606Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GM2A-M69Vhomozygous0.722Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GM2A-V153Ahet unknown0.072Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.5SYNE1-L8741Mhet unknown0.104Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.088 (benign), Testable gene in GeneTests with associated GeneReview
0.5SYNE1-G8323Ahet unknown0.376Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5SYNE1-F7302Vhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-L5015Mhet unknown0.808Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-S4596Thet unknown0.793Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-K4121Rhet unknown0.784Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-E4060Dhet unknown0.566Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.5SYNE1-V1035Ahet unknown0.534Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.673 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5SLC26A2-I574Thomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC26A2-T689Shet unknown0.197Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FAM162B-A120Thet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.947 (probably damaging)
0.5TCOF1-P1139Rhomozygous0.170Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A5-D982Ghet unknown0.215Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.017 (benign)
0.5COL6A5-T1280Phet unknown0.596Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.93 (probably damaging)
0.5COL6A5-C1477Shet unknown0.686Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5COL6A5-S1539Thet unknown0.128Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5COL6A5-S1589Phet unknown0.687Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5COL6A5-P1623Hhet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5COL6A5-Q2188Rhomozygous0.894Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.008 (benign)
0.5COL6A5-G2205Dhomozygous0.917Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PCK1-P3Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCK1-V184Lhomozygous0.903Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCK1-I267Vhet unknown0.098Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.167 (benign), Testable gene in GeneTests
0.5PCK1-V368Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCA1-K1587Rhet unknown0.582Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCA1-I883Mhet unknown0.250Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCA1-V825Ihet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCA1-V399Ahet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5BAAT-R20Qhomozygous0.627Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.136 (benign), Testable gene in GeneTests
0.5NOL8-K165Rhet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging)
0.5OBSL1-Q1578Rhomozygous0.962Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-E1365Dhomozygous0.702Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-R723Khomozygous0.827Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATIC-T116Shomozygous0.248Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5DFNB31-V783Ahet unknown0.412Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-H752Qhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-M613Thet unknown0.492Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-R364Hhomozygous0.981Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CPS1-T344Ahomozygous0.597Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.302 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5MUSK-V829Lhet unknown0.097Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCA12-S777Thomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ROR2-V819Ihomozygous0.704Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ROR2-T245Ahomozygous0.678Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AK300656-R11*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5PANK2-L111Qhet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.26 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5PANK2-G126Ahomozygous0.940Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NCRNA00255-P39Shifthet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NCRNA00255-R42Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NCRNA00255-Q84Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PKHD1L1-Y440Hhet unknown0.275Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.995 (probably damaging)
0.5PKHD1L1-H923Rhet unknown0.597Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PKHD1L1-P1430Lhet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.872 (probably damaging)
0.5PKHD1L1-R1514Shet unknown0.540Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PKHD1L1-V1965Lhet unknown0.592Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5NOV-C15Fhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.923 (probably damaging)
0.5DEFB126-M51Thet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.84 (possibly damaging)
0.5DEFB126-P106Shifthet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5TOPORS-P20Shet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCM1-N159Shet unknown0.815Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PCM1-N455Shet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.902 (probably damaging)
0.5PCM1-M597Vhet unknown0.817Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5WISP1-A205Shet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5COL6A3-T3069Ihet unknown0.362Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A3-A3012Phomozygous0.835Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A3-M2927Thet unknown0.700Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A3-D2831Hhet unknown0.068Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A3-V342Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CASP10-Y446Chet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.39 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5CASP10-L522Ihet unknown0.439Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDK5RAP2-V1540Lhomozygous0.698Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDK5RAP2-E289Qhomozygous0.849Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC4A5-V1106Ihet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.25 (possibly damaging), Testable gene in GeneTests
0.5DCTN1-P811Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DCTN1-R495Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DCTN1-I196Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5EIF2AK3-A704Shomozygous0.802Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EIF2AK3-Q166Rhomozygous0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ALMS1-S524SPhomozygous0.578Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-V671Ghomozygous0.881Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-R4029Khomozygous0.540Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DMD-R2937Qhomozygous0.957Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DMD-K2366Qhomozygous0.201Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.875 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5DMD-R1745Hhomozygous0.336Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5DMD-D882Ghomozygous0.650Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCG8-V632Ahomozygous0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5OPN1LW-S180Ahomozygous0.126Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5LHCGR-N312Shomozygous0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ATP7A-E1350Khomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MERTK-S118Nhet unknown0.223Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MERTK-R466Khomozygous0.635Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MERTK-I518Vhomozygous0.635Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ARSE-G424Shomozygous0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5SSFA2-P836Lhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.992 (probably damaging)
0.5COL3A1-A698Thomozygous0.211Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL3A1-H1353Qhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-I1386Vhomozygous0.691Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-G1252Rhomozygous0.690Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-D1192Ehomozygous0.790Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEUROD1-T45Ahomozygous0.672Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TTN-V25148Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-I23649Thet unknown0.224Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-A19840Phomozygous0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-E9928EEhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-R9852Hhet unknown0.224Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-G9378Rhet unknown0.431Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-S3419Nhomozygous0.899Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-V3261Mhomozygous0.893Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-I1544Vhet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-K1201Ehomozygous0.731Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LCT-N1639Shet unknown0.612Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LCT-I362Vhomozygous0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LCT-V219Ihet unknown0.273Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NEB-I6534Vhet unknown0.422Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-A6277Phomozygous0.631Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-R4389Thomozygous0.648Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-W3348Chet unknown0.270Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-S2912Phet unknown0.298Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-K2613Nhet unknown0.351Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-H1991Yhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-R1856Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-V1491Mhet unknown0.660Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-V1479Ihet unknown0.189Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-Y1301Hhet unknown0.820Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-K1027Nhet unknown0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCB11-V444Ahomozygous0.603Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5ADAMTS13-P618Ahet unknown0.063Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests
0.5CYP11B2-V386Ahet unknown0.063Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CYP11B2-K173Rhet unknown0.374Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EPHX2-K55Rhet unknown0.141Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5EPHX2-R103Chet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.853 (probably damaging)
0.5CYP2D6-C296Rhomozygous0.599Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CYP2D6-H94Rhet unknown0.083Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CYP2D6-L91Mhet unknown0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CYP2D6-P34Shomozygous0.187Complex/Other
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ISX-S28Ghomozygous0.731Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ISX-P49Shet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.928 (probably damaging)
0.5ISX-P57Shomozygous0.489Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.5GAB4-W206Chet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5GAB4-G163*het unknown0.337Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.5PEX2-C184Rhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ESCO2-A80Vhet unknown0.099Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ESCO2-Q359Phet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5GGT1-G84Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5SEC14L4-E211Khet unknown0.185Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.997 (probably damaging)
0.5SEC14L4-V200Mhet unknown0.189Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.198 (benign)
0.5SEC14L4-R124Ghet unknown0.190Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.22 (possibly damaging)
0.5SEC14L4-R122Whet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5GGH-T151Ihet unknown0.083Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.846 (possibly damaging)
0.5GGH-A31Thet unknown0.210Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GGH-C6Rhomozygous0.228Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRKDC-L1243Shifthomozygous0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.5PRKDC-M333Ihet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5HPS4-Q620Hhomozygous0.868Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.859 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5HPS4-H601Yhomozygous0.868Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-V547Mhomozygous0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-L438Vhomozygous0.375Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-E224Ghomozygous0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRODH-A472Thet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRODH-W185Rhet unknown0.675Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ALG12-I393Vhet unknown0.090Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.939 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5TTC3-M840Thet unknown0.557Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TTC3-R924Hhet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5TTC3-D1751Hhet unknown0.616Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC26A7-I215Vhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.97 (probably damaging)
0.5KCNE1-S38Ghomozygous0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5ITGB2-Q354Hhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.543 (possibly damaging), Testable gene in GeneTests
0.5ASAH1-V246Ahomozygous0.867Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ASAH1-I93Vhomozygous0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ASAH1-V72Mhomozygous0.424Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375HMCN1-I2418Thet unknown0.525Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.468 (possibly damaging), Testable gene in GeneTests
0.375HMCN1-E2893Ghet unknown0.554Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.91 (probably damaging), Testable gene in GeneTests
0.375HMCN1-V3540Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375HMCN1-Q4437Rhet unknown0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests
0.375NOTCH3-A2223Vhet unknown0.730Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375NOTCH3-G37Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375FBN2-V965Ihet unknown0.665Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375FBN2-T26Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375LRRC50-K393Rhet unknown0.378Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.683 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.375LRRC50-D435Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375LRRC50-P502Lhet unknown0.301Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.375LRRC50-L633Shet unknown0.273Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375LRRC50-L659Phet unknown0.270Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375ATXN1-P753Shet unknown0.146Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375ATXN1-G42Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375ATP6V0A4-P252Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375ATP6V0A4-V2Ahet unknown0.735Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375GBA-H310Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375GBA-K144Rhet unknown0.619Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375GBA-R140Whet unknown0.357Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375VPS13B-T488Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375VPS13B-G3407Rhet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25IGHMBP2-L201Shet unknown0.777Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25IGHMBP2-T879Khet unknown0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25NAT2-I114Thet unknown0.398Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NAT2-R268Khet unknown0.581Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25COL10A1-G545Rhet unknown0.162Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.774 (possibly damaging), Testable gene in GeneTests
0.25COL10A1-M27Thomozygous0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PTF1A-S263Phet unknown0.507Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.981 (probably damaging), Testable gene in GeneTests
0.25C10orf113-D100Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C10orf113-S22Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25MADD-V751Mhet unknown0.226Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25COL9A1-S339Phet unknown0.479Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FIG4-V654Ahet unknown0.331Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SNAPC4-L1355Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SNAPC4-F449Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PLOD1-A99Thet unknown0.282Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GNPAT-D519Ghet unknown0.168Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.025 (benign), Testable gene in GeneTests
0.25POLA2-G583Rhet unknown0.154Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.024 (benign)
0.25CFHR1-H157Yhet unknown0.305Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CFHR1-L159Vhet unknown0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CFHR1-E175Qhet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CCDC88B-D58Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CCDC88B-D886Ahomozygous0.958Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25RYR2-Q2958Rhet unknown0.224Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25OR8U8-A51Thet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25OR8U8-T53Ehet unknown0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25OR8U8-S54Khet unknown0.275Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25OR8U8-IS109TAhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25OR8U8-S112Chet unknown0.460Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25OR8U8-L131Mhet unknown0.403Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25OR8U8-T137Shet unknown0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25OR8U8-F153Ihet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25OR8U8-M155Vhet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.25OR8U8-F200Lhet unknown0.387Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.01 (benign)
0.25OR8U8-M206Thet unknown0.286Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.25OR8U8-S209Chet unknown0.290Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25OR8U8-L211Vhet unknown0.406Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25OR8U8-S223Fhet unknown0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25OR8U8-H229Shet unknown0.063Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25OR8U8-G242Shet unknown0.163Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25OR8U8-A267Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25OR8U8-T270Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25OR8U8-Q293Rhet unknown0.406Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25OR8U8-E296Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25PRG4-R180Whet unknown0.299Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.25PRG4-T238Mhet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.841 (possibly damaging)
0.25PRG4-T604Ahet unknown0.300Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PRG4-C746Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PRG4-T1296Mhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CHRNA2-T125Ahet unknown0.580Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TNFRSF1B-A127Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25TNFRSF1B-M196Rhet unknown0.232Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.986 (probably damaging)
0.25TNFRSF1B-P301Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25LBR-S154Nhet unknown0.704Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25BDNF-V148Mhet unknown0.138Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLC35C1-I227Vhet unknown0.143Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ACADSB-R13Khet unknown0.281Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.08 (benign), Testable gene in GeneTests
0.25CNGB3-T298Phet unknown0.643Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.007 (benign), Testable gene in GeneTests with associated GeneReview
0.25CNGB3-C234Whet unknown0.880Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LHPP-T31Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25LHPP-T31Khet unknown0.083Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LHPP-Q94Rhomozygous0.918Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25EFCAB4A-R77Qhet unknown0.640Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.01 (benign)
0.25EFCAB4A-G236*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25FMO3-E158Khet unknown0.429Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DOCK8-A22Vhet unknown0.317Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.009 (benign), Testable gene in GeneTests
0.25DOCK8-P97Thet unknown0.465Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests
0.25HOXA1-R73Hhet unknown0.728Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ADRB1-G389Rhet unknown0.681Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25IL6R-D358Ahet unknown0.316Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.911 (probably damaging)
0.25SCD-M224Lhet unknown0.404Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25GARS-P42Ahet unknown0.744Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TMEM67-I604Vhet unknown0.638Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NGF-A35Vhet unknown0.370Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.123 (benign), Testable gene in GeneTests
0.25NRAP-R1566Chet unknown0.368Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.853 (probably damaging)
0.25NRAP-L1531Phet unknown0.100Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.928 (probably damaging)
0.25NRAP-I1183Vhet unknown0.435Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NRAP-R884Chet unknown0.262Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.97 (probably damaging)
0.25NRAP-N519Ihet unknown0.305Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.974 (probably damaging)
0.25NRAP-S490Lhet unknown0.249Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.092 (benign)
0.25NRAP-Q360Rhet unknown0.525Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NRAP-A344Thet unknown0.525Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NRAP-A282Thet unknown0.308Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NRAP-Y249Chet unknown0.208Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.25NRAP-V208Ahomozygous0.869Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LIPA-G23Rhet unknown0.148Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25LIPA-T16Phet unknown0.241Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.25LEPR-Q223Rhet unknown0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.484 (possibly damaging), Testable gene in GeneTests
0.25LEPR-K656Nhet unknown0.176Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.454 (possibly damaging), Testable gene in GeneTests
0.25ERV3-N566Shomozygous0.918Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ERV3-N478Shomozygous0.925Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ERV3-R220*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25ERV3-C189Yhomozygous0.480Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ERV3-T87Ihomozygous0.916Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FKTN-R203Qhet unknown0.263Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.166 (benign), Testable gene in GeneTests with associated GeneReview
0.25CALHM1-L86Phet unknown0.798Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PCDH15-D440Ahet unknown0.131Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PCDH15-S19Ahet unknown0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.013 (benign), Testable gene in GeneTests with associated GeneReview
0.25KCNQ4-H455Qhet unknown0.174Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.191 (benign), Testable gene in GeneTests with associated GeneReview
0.25ELN-G422Shet unknown0.332Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25USH1C-E819Dhet unknown0.517Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ABCC8-A1369Shet unknown0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ANXA11-R230Chet unknown0.341Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.25BMPR1A-P2Thet unknown0.393Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FMO2-S195Lhet unknown0.384Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FMO2-E314Ghet unknown0.082Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CYB5RL-R47Khet unknown0.296Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CYB5RL-R43*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25FAAH-P129Thet unknown0.256Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25CPT2-V368Ihet unknown0.456Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CPT2-M647Vhet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.462 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25LHX4-N328Shet unknown0.406Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SRA1-V110RLhet unknown0.360Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COX10-R159Qhet unknown0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PCNT-G704Ehomozygous0.894Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PCNT-V1038Ahomozygous0.883Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PCNT-C2254Yhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PCNT-P2274Lhet unknown0.227Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.012 (benign), Testable gene in GeneTests
0.25PCNT-Q2659Hhet unknown0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.849 (possibly damaging), Testable gene in GeneTests
0.25PCNT-Q2792Rhet unknown0.693Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.006 (benign), Testable gene in GeneTests
0.25GAA-H199Rhet unknown0.673Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GAA-V780Ihet unknown0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25C17orf77-T198Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C17orf77-C207*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25C17orf54-C131ShomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C17orf54-L161Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25C17orf54-L161Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25COL18A1-T379Mhet unknown0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.969 (probably damaging), Testable gene in GeneTests
0.25IFNGR2-Q64Rhet unknown0.169Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.004 (benign), Testable gene in GeneTests
0.25CD226-S307Ghet unknown0.451Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CD226-R279Khet unknown0.074Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LMAN1-M410Lhet unknown0.102Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.025 (benign), Testable gene in GeneTests
0.25ALPK2-I2157Vhomozygous0.832Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ALPK2-H1174Phet unknown0.683Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.998 (probably damaging)
0.25ALPK2-L1057Vhet unknown0.684Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.293 (possibly damaging)
0.25ALPK2-F683Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ALPK2-R136Shomozygous0.453Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ALPK2-K2Thomozygous0.840Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LOXHD1-R1155Ghomozygous0.792Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25LOXHD1-K942Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MMP9-Q279Rhet unknown0.346Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MMP9-R574Phomozygous0.918Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MMP9-R668Qhet unknown0.135Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RNF43-L418Mhet unknown0.371Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.06 (benign)
0.25RNF43-R343Hhet unknown0.116Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.25RNF43-I47Vhet unknown0.325Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25MYH9-I1626Vhet unknown0.153Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SCO2-R20Phet unknown0.629Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TMEM43-K168Nhet unknown0.287Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.064 (benign), Testable gene in GeneTests with associated GeneReview
0.25TMEM43-M179Thet unknown0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CCR2-V64Ihet unknown0.114Unknown
protective
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25GBE1-I334Vhet unknown0.980Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LMBRD1-D469Ehet unknown0.313Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25MLC1-C171Fhet unknown0.106Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.04 (benign), Testable gene in GeneTests with associated GeneReview
0.25KRTAP3-2-R27Chet unknown0.132Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.25MAPT-Y441Hhet unknown0.178Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ITGA2B-I874Shet unknown0.380Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TRIOBP-S217Nhet unknown0.544Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests
0.25TRIOBP-Q398Delhet unknown0.308Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TRIOBP-S493Nhet unknown0.130Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TRIOBP-N863Khet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests
0.25TRIOBP-F1187Lhet unknown0.347Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests
0.25TRIOBP-W1377Rhet unknown0.965Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.084 (benign), Testable gene in GeneTests
0.25PNPLA3-I148Mhet unknown0.196Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.778 (possibly damaging)
0.25PNPLA3-K434Ehet unknown0.683Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25JUP-M697Lhet unknown0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CTDP1-S61Ahet unknown0.659Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NDUFS7-P23Lhet unknown0.538Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25ACPT-T170Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ACPT-A178*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25ZNF224-M118Vhomozygous0.872Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ZNF224-H162Lhomozygous0.879Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.262 (possibly damaging)
0.25ZNF224-K640Ehet unknown0.713Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25AK296854-H6RhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25AK296854-W116RhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25AK296854-R120Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CASP8-K14Rhet unknown0.671Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25LRP2-G4417Dhet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25LRP2-I4210Lhet unknown0.602Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.25LRP2-K4094Ehet unknown0.799Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25LRP2-A2872Thet unknown0.240Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25LRP2-N83Shet unknown0.341Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25RAB3GAP1-N598Shet unknown0.115Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25GCKR-L446Phet unknown0.679Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ATP6V1B1-T30Ihet unknown0.159Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MCEE-A76Vhet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GLI2-D1306Nhet unknown0.678Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GGCX-R325Qhet unknown0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.25ALS2-V368Mhet unknown0.859Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NPHS1-N1077Shet unknown0.106Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests
0.25NPHS1-E117Khet unknown0.227Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests
0.25AK304151-S34Lhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25AK304151-F47Lhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25AK304151-V52Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ZNF317-Q19Hhet unknown0.117Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25ZNF317-Q19Hhet unknown0.117Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25COL4A3-G43Rhet unknown0.353Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL4A3-L141Phet unknown0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL4A3-E162Ghet unknown0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL4A3-P574Lhet unknown0.385Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25C2orf83-W141*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25C2orf83-E104Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C2orf83-S45LhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25LRRC8E-M190Thomozygous0.322Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LRRC8E-RV490GAhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25LRRC8E-E666Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25MYO1F-M468Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25MYO1F-DV463EGhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ICAM1-K469Ehet unknown0.349Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PRKCSH-A291Thet unknown0.159Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25NM_014727-K368Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25NM_014727-K376Delhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25NM_014727-A1905Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ZNF100-T389Ihet unknown0.492Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.922 (probably damaging)
0.25ZNF100-I176Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SLC4A3-H157Phet unknown0.947Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SLC4A3-H157Phet unknown0.947Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25MAN2B1-R337Qhet unknown0.373Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.027 (benign), Testable gene in GeneTests with associated GeneReview
0.25MAN2B1-T312Ihet unknown0.458Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.045 (benign), Testable gene in GeneTests with associated GeneReview
0.25COL4A4-S1400Phet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL4A4-V1327Mhet unknown0.445Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL4A4-P1004Lhet unknown0.516Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL4A4-P482Shet unknown0.499Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LRRC48-R191Whet unknown0.349Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LRRC48-L440Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25AK126213-A234Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25AK126213-M228Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SH3TC2-A468Shet unknown0.241Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25SUCLA2-S199Thet unknown0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HTR2A-H452Yhet unknown0.109Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.489 (possibly damaging)
0.25SLC25A15-I254Lhet unknown0.341Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25C5orf20-R117*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25C5orf20-N97Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C5orf20-T75Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25HSD17B4-R106Hhet unknown0.362Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.547 (possibly damaging), Testable gene in GeneTests
0.25HSD17B4-I559Vhet unknown0.404Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.111 (benign), Testable gene in GeneTests
0.25GHR-I544Lhet unknown0.435Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests
0.25MYH15-T1125Ahet unknown0.242Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.007 (benign)
0.25MYH15-T949Ihet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.127 (benign)
0.25MYH15-H504Yhet unknown0.715Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.997 (probably damaging)
0.25ARSB-V358Mhet unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.117 (benign), Testable gene in GeneTests
0.25APC-V1822Dhet unknown0.826Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25VCAN-K1516Rhet unknown0.499Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25VCAN-R1826Hhet unknown0.383Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.25VCAN-F2301Yhet unknown0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25VCAN-D2937Yhet unknown0.388Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.11 (benign), Testable gene in GeneTests with associated GeneReview
0.25FREM2-S745Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FREM2-F1070Shet unknown0.438Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FREM2-T2326Ihet unknown0.726Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25NIPAL4-R213Ghet unknown0.449Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25C12orf60-K65Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C12orf60-N103Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C12orf60-M184Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25TULP1-K261Nhet unknown0.844Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25KIF6-W719Rhet unknown0.507Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.01 (benign)
0.25ALG8-N222Shet unknown0.172Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25MTMR2-K3Thet unknown0.240Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SLCO1B1-N130Dhet unknown0.528Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLCO1B1-P155Thet unknown0.135Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-W37Ghet unknown0.201Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-Y59Chet unknown0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-V152Mhet unknown0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-E196Khet unknown0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-S229Ghet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-R233Whet unknown0.259Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MICA-I236Thet unknown0.466Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-T238Shet unknown0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-R274Qhet unknown0.478Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-G318Shifthet unknown0.163Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.25MICA-C329Rhet unknown0.158Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-P330Lhet unknown0.184Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SH2B3-W262Rhet unknown0.634Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25KRT6C-V481Ihet unknown0.270Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25KRT6C-R182Qhet unknown0.402Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.805 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25KRT6B-I365Vhet unknown0.301Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25IRAK4-A428Thet unknown0.159Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PFKM-R100Qhet unknown0.171Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.01 (benign), Testable gene in GeneTests
0.25FAM161B-V644Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25FAM161B-K487Rhet unknown0.395Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.246 (possibly damaging)
0.25CASR-E1011Qhet unknown0.916Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ABCC11-H1344Rhet unknown0.226Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ABCC11-N1277Yhet unknown0.093Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.25ABCC11-Q638Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ABCC11-T546Mhomozygous0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.275 (possibly damaging)
0.25WFS1-V333Ihet unknown0.800Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25WFS1-R611Hhet unknown0.400Recessive
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25SLC2A9-P350Lhet unknown0.378Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SLC2A9-R294Hhet unknown0.149Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests
0.25SLC2A9-G25Rhomozygous0.429Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FAM184B-V1042Ahomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FAM184B-R126Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25IL7R-I66Thet unknown0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25IL7R-V138Ihet unknown0.745Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25OPA1-S158Nhet unknown0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.25CLDN16-R55Shifthet unknown0.172Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift, Testable gene in GeneTests
0.25PKD1L2-M2313Ihomozygous0.921Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-S2207Rhomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-S2137Fhet unknown0.905Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-L2117Ihet unknown0.154Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-Y2079Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25PKD1L2-A2054Thet unknown0.134Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-Y2048Shet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-P2045Lhet unknown0.325Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-Q2035Rhet unknown0.140Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-M1866Vhomozygous0.955Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-S1665Yhet unknown0.065Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-K1575*het unknown0.073Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.25PKD1L2-N1330DhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PKD1L2-T1048Ahomozygous0.678Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-L1036Phet unknown0.166Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PKD1L2-A863Vhet unknown0.162Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-L711Phomozygous0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-P512Lhomozygous0.754Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-P301Ahet unknown0.353Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-R252Whomozygous0.461Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-N236Shifthet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.25PKD1L2-E221Ghomozygous0.773Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-V183Ihet unknown0.192Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-L173Shet unknown0.349Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-Q120Lhet unknown0.577Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-K77Nhet unknown0.272Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-W73Rhet unknown0.634Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-V20Ahet unknown0.635Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DHODH-K7Qhet unknown0.542Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.25NQO1-P187Shet unknown0.197Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.215 (possibly damaging)
0.25CLCN2-T668Shet unknown0.594Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TK2-K30Rhet unknown0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TLR6-S249Phet unknown0.695Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SHROOM3-G279Ahomozygous0.711Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SHROOM3-P469Ahomozygous0.553Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SHROOM3-A975Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SHROOM3-P1290Lhet unknown0.487Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GATM-Q110Hhet unknown0.443Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CDAN1-R891Chet unknown0.270Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25CDAN1-Q596Rhet unknown0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CDAN1-Q107Lhet unknown0.250Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MORC1-I881Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25MORC1-S767Nhet unknown0.138Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MORC1-F470Ihomozygous0.884Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FGB-R478Khet unknown0.155Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25UGT2B15-K523Thomozygous0.495Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25UGT2B15-Y85Dhet unknown0.508Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LOXL1-G153Dhet unknown0.221Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.135 (benign)
0.25ADAMTSL3-H146Rhet unknown0.564Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.04 (benign)
0.25ADAMTSL3-L290Vhet unknown0.849Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ADAMTSL3-V661Lhet unknown0.620Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLC28A1-D521Nhet unknown0.360Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CHRNB1-E32Ghet unknown0.250Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.288 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25DRD3-G9Shet unknown0.533Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ATP10D-T43Ihet unknown0.388Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.143 (benign)
0.25ATP10D-C171Rhet unknown0.139Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.848 (possibly damaging)
0.25ATP10D-P496Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ATP10D-L617Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ATP10D-P716Thet unknown0.142Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25ATP10D-V1240Ihet unknown0.208Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.125CYP4F2-V433Mhet unknown0.226Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.309 (possibly damaging)
0.125CYP4F2-W12Ghet unknown0.191Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0SLC7A9-A182Thet unknown0.003Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0CYP1B1-R368Hhet unknown0.001Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0FUT6-R303Ghet unknown0.074Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.725 (possibly damaging)
0ABCA4-G1961Ehet unknown0.003Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests

Input file format: CGIVAR

Genome build: b37

Genome coverage: 2,750,776,513 bases (96.2% of callable positions, 89.3% of total positions)

Coding region coverage: 31,619,571 bases (95.0% of all genes, 95.8% 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, chrY

Gene search

"GENE" or "GENE A123C":

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