- GET-Evidence variant report

Variant report for

Log file: 




VariantClinical
Importance
ImpactAllele
freq
Summary
1LRP5-R1534XHighLikelyLikely pathogenic

Recessive, Carrier (Heterozygous)
Reported to cause osteoporosis pseudoglioma syndrome in a recessive manner. This effect is recorded in ClinVar by OMIM, (http://www.ncbi.nlm.nih.gov/clinvar/RCV000033260/). This comes from Narumi et al 2010 (PMID: 20034086), who found this variant compound heterozygous in a Japanese patient. Although the report didin't establish statistical significance, the variant may be very rare. ExAC has no allele frequency for the variant. This rarity would be consistent with the proposed effect, as is the the highly disruptive nature of the variant (nonsense mutation).1
2C3-R102GModerateLikelyLikely pathogenic

Complex/Other, Heterozygous
0.152073This variant (also called C3F) is common in Europeans (10.2% allele frequency), and is associated with age-related macular degeneration. In the US, 1.5% of adults over 40 have the disease, but the incidence increases strongly with age (>15% in women over 80). Assuming an average lifetime risk of ~10%, heterozygous individuals have a ~13% risk and homozygous have ~20%.1
3LDLR-V827IModerateUncertainUncertain pathogenic

Dominant, Heterozygous
0.000371816LabCorps has reported this as a "likely pathogenic" in ClinVar: http://www.ncbi.nlm.nih.gov/clinvar/RCV000030135/ Other missense variants in this gene are reported to cause familial hypercholesterolemia in a dominant manner. However, according to ExAC allele frequency data this variant is carried by 1 in 400 with European descent -- roughly equal to the prevalence of the disease. This seems to contradict the reported effect: if this variant *were* a significant cause of the disease, we would expect it to account for a large fraction of cases and be well-established in literature -- but this does not appear to be the case.1
4MTRR-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
5MBL2-G54DLowLikelyLikely pathogenic

Recessive, Carrier (Heterozygous)
0.103923This variant is associated with mannose binding protein deficiency which leads to impaired complement system immune response to mannose-rich pathogens. Patients homozygous for this allele or compound heterozygous are likely to have increased susceptibility to infection, but Hellemann et al. report heterosis for intensive care outcomes in heterozygous subjects. The wild-type version of this gene is known as variant allele A, while this is called variant allele B. See R52C (variant D) and G57E (variant C).1
6TGIF1-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
7SP110-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
8ACAD8-S171CLowUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.018312This variant (a.k.a S149C) was found as a compound heterozygote (with M130T) in a male newborn of European descent with isobutyryl-CoA dehydrogenase deficiency (identified by newborn screening). Lack of controls means that significance cannot be established and allele frequency cannot be estimated. Oglesbee et al. comment that IBD-deficiency may be relatively benign, most cases identified by newborn screening have remained asymptomatic, but Ferreira et al. report a symptomatic individual homozygous for this variant.1
9DYX1C1-E417XLowUncertainUncertain pathogenic

Unknown, Heterozygous
0.20147One study reports this variant to be associated with dyslexia. The study group was relatively small and so the results did not have strong significance. If they are representative this variant is associated with a doubled risk for dyslexia, but it is unclear whether the effect would be additive, dominant, or recessive.1
10TP53-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
11WFS1-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
12rs1544410LowUncertainUncertain 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
13ABCC6-R1268QLowUncertainUncertain pharmacogenetic

Unknown, Homozygous
0.218907This common polymorphism appears to not have a significant phenotypic impact. A few studies report weak but significant associations with plasma lipids (in Inuits) and thalidomide toxicity.1
14PRNP-M129VLowWell-establishedWell-established protective

Complex/Other, Heterozygous
0.339561This variant is associated with some protective effects for prion disease -- individuals homozygous for this variant are less susceptible to Creutzfeldt-Jakob, and Papua New Guinea individuals heterozygotes at this site are less susceptible to kuru. 1
15CCR5-S185ShiftLowWell-establishedWell-established protective

Recessive, Carrier (Heterozygous)
0.047619Also known as CCR5-delta32, this variant is associated with resistance to many strains of HIV (but not all strains, only strains that use target the CCR5 protein). Heterozygotes are reported to have slower HIV progression, and homozygotes are very resistant to being infected by these strains.1
16TGFB1-T263ILowUncertainUncertain protective

Dominant, Heterozygous
0.0205429Carriers may be less likely to have cleft lip and palate congenital deformity.1
17LIG4-A3VLowUncertainUncertain protective

Dominant, Heterozygous
0.035843One report has associated this with a decreased risk of multiple myeloma.1
18TYR-R402QLowWell-establishedWell-established benign

Complex/Other, Heterozygous
0.204964This is a frequent pigmentation polymorphism in Europeans that affects function of the Tyrosinase gene. It is associated with blue instead of green eyes and sun sensitivity. For the most part this variant is benign, but many individuals with ocular albinism (which affects only the eyes) carry this variant along with another more severe variant in the same gene.1
19ARSA-N350SLowWell-establishedWell-established benign

Unknown, Heterozygous
0.183199This common variant (HapMap 24.1% allele frequency) causes a loss of a glycosylation site (affecting the size of the protein when studied with gel electrophoresis) but does not affect enzyme activity or stability.1
20CACNA1S-L458HLowLikelyLikely benign

Unknown, Heterozygous
0.27282Common polymorphism1
21ADA-K80RLowLikelyLikely benign

Recessive, Carrier (Heterozygous)
0.0635806This variant has a 3.5% allele frequency in 1000 genomes data. Although OMIM links this to disease, the paper they reference uses in vitro data to conclude that this is a functionally neutral polymorphism.1
22NEFL-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
23MLH1-I219VLowUncertainUncertain benign

Dominant, Heterozygous
0.239822Computational evidence, functional assays, and case/control studies suggest this variant is probably benign.1
24GUCY2D-A52SLowUncertainUncertain benign

Recessive, Homozygous
0.21016One publication suggested that this variant possibly causes Leber's congenital amaurosis in a recessive manner, but the frequency data (36% in 1000 genomes) contradicts any significant pathogenic effect.1
25TYR-S192YLowUncertainUncertain benign

Unknown, Heterozygous
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
26NOTCH2-P227HLowUncertainUncertain benign

Unknown, Heterozygous
0.000185908Probably benign. Predicted to be damaging by Polyphen 2 and other damaging variants cause Alagille syndrome, but this variant is not rare enough and has been seen in a healthy PGP participant.1
27ERCC6-R1230PLowUncertainUncertain benign

Unknown, Heterozygous
0.0695297Probably benign.1
28NTRK1-G613VLowUncertainUncertain benign

Unknown, Heterozygous
0.0429448Also called G607V, this variant has been reported as a nonpathogenic polymorphism.1
29FMO3-V257MLowUncertainUncertain benign

Unknown, Heterozygous
0.0570738This common variant (HapMap allele frequency of 9.2%) appears to have no functional effect. OMIM has recorded it as having been seen homozygously in an individual with Trimethylaminuria, but Treacy et al. 1998 conclude it is a polymorphism.1
30MAPT-R370WLowUncertainUncertain benign

Unknown, Heterozygous
0.155549Probably benign.1
31FANCA-S1088FLowUncertainUncertain benign

Unknown, Heterozygous
0.0584681Probably benign. One report hypothesized this variant causing Fanconi Anemia, but the allele frequency (3-7%) is high enough to contradict a highly penetrant pathogenic effect. Later authors have concluded this is a polymorphism, not pathogenic.1
32ELN-G581RLowUncertainUncertain benign

Unknown, Heterozygous
0.072876Probably a benign SNP, not rare (4.8% allele frequency in GET-Evidence data).1
33CBLC-H405YLowUncertainUncertain benign

Unknown, Heterozygous
0.0374605Probably benign.1
34ABCA4-R943QLowUncertainUncertain benign

Unknown, Heterozygous
0.0316044This is a polymorphism in a gene associated with Stargardt disease. Although it has a slight detectable effect in functional study, it is common in control groups and is not believed to have any significant pathogenic effect.1
35NTRK1-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
36RP1-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
37PKP2-L366PLowUncertainUncertain benign

Unknown, Heterozygous
0.221231This variant is a benign polymorphism. 1
38PCSK9-G670ELowUncertainUncertain benign

Unknown, Homozygous
0.888269This variant is likely benign. 1
39APOB-Y1422CLowUncertainUncertain benign

Unknown, Homozygous
0.999628This position is almost certainly an error in the HG18 reference sequence. 1
40SLC45A2-L374FLowUncertainUncertain benign

Unknown, Homozygous
0.691764Pigmentation allele for non-black hair, and consequently, possible increased susceptibility to malignant melanoma.1
VariantPrioritization scoreAllele
freq
Num of
articles
Zygosity and Prioritization Score Reasons

Exome coverage: 32122263 / 33282720 = 96.51%

GeneChromosomeCoverageMissingLengthMissing regions
1AGRN10.6441837732160321846138955553-955740, 955751-955753, 957612-957615, 957634-957639, 957648, 957667-957672, 957697-957703, 957706, 957711-957713, 957764-957771, 957783-957828, 970657-970662, 970690-970694, 970699-970704, 976046-976052, 976072-976083, 976111, 976116-976137, 976148, 976160-976260, 976553-976554, 976560-976627, 976639-976684, 976693, 976715-976723, 976727-976731, 976752-976777, 976867-976868, 976872, 976892-976921, 976961, 976977-976978, 976983-976985, 977056-977082, 977423, 977485, 977488, 977509, 977515-977516, 977522, 978662-978684, 978707-978750, 978779-978789, 978925, 978928-978931, 978946-979002, 979076-979112, 979281-979295, 979374-979379, 979387-979390, 979726-979731, 980591-980597, 980784-980790, 980868, 981207-981215, 981219-981225, 981230, 981395, 981402-981408, 981411, 981419, 981422, 981455, 981549, 981570, 981574, 981631, 981780-981795, 981826-981828, 981875-981877, 981883-981903, 981926, 981929-981948, 981954-981966, 981978-982023, 982060-982061, 982066, 982069, 982074-982080, 982204-982240, 982246-982294, 982722-982765, 982958-982975, 983023-983025, 983168-983183, 983190-983219, 983244-983275, 983409-983410, 983421, 983461, 983467, 983471, 983474, 983488-983504, 983508-983512, 983516-983517, 983527, 983550-983712, 983736-983745, 984247-984346, 984352-984356, 984362-984375, 984392-984401, 984412-984413, 984424-984439, 984624-984635, 984670-984681, 984700-984702, 984731-984771, 984812, 984946-984953, 984961-984964, 985111, 985117-985126, 985133-985175, 985283-985294, 985297-985299, 985333, 985338, 985397, 985413, 985416, 985679, 985821-985822, 985832, 985868-985894, 985965, 986111-986156, 986187-986211, 986656-986743, 986833-986859, 986885, 986891-986892, 986905-986906, 986969, 987142, 987155, 987158, 987163-987165, 987168-987179, 987182, 989171-989196, 989208, 989212-989220, 989273, 989838-989863, 989871-989872, 990216, 990223-990251, 990260-990296, 990309-990313, 990323-990336
2GABRD10.8175128771155324813591950863-1950930, 1956383-1956387, 1956421, 1956424, 1956476, 1956812-1956819, 1957088, 1957166-1957177, 1959725-1959728, 1960550, 1960587-1960615, 1960625-1960667, 1960691, 1961007-1961016, 1961042-1961055, 1961462-1961471, 1961531-1961540, 1961566, 1961627-1961654
3PEX1010.89908256880734999812337932-2337939, 2337944, 2340019-2340021, 2343830-2343834, 2343846-2343889, 2343899-2343936
4NPHP410.9642606867554315342815923975-5923978, 5950956, 6038330-6038473, 6046332-6046333, 6046340-6046341
5ESPN10.6522417153996189225656485016-6485061, 6485068-6485070, 6485081-6485115, 6485130-6485195, 6485204-6485301, 6488304, 6488322, 6488325, 6488333, 6488343, 6488378-6488392, 6488416-6488432, 6488461-6488479, 6500379-6500421, 6500447-6500488, 6500699-6500718, 6500765-6500802, 6500830-6500855, 6500864-6500868, 6501022-6501065, 6501097-6501107, 6505726-6505742, 6505776-6505798, 6505813-6505859, 6505891, 6505917, 6508701-6508715, 6508760, 6508763, 6508810-6508857, 6508882-6508890, 6508922-6508928, 6508954-6508988, 6509053-6509078, 6509139-6509151, 6511706, 6511907-6511942, 6512042-6512084, 6512106-6512133, 6517286-6517292
6PLEKHG510.996864220758861031896529183-6529185, 6533407, 6534629, 6535549, 6557380-6557383
7PARK710.9947368421052635708030955-8030957
8PEX1410.9708994708994733113410684444-10684453, 10684456, 10689803, 10689818, 10689852, 10689868, 10689875-10689877, 10689897, 10689934, 10689977, 10690015-10690026
9TARDBP10.9887550200803214124511082356-11082362, 11082599-11082605
10MASP210.94808345463367107206111094891, 11103053-11103070, 11103416-11103454, 11103500, 11103546-11103562, 11105497-11105513, 11106625-11106630, 11106660, 11106663, 11106680, 11107260-11107264
11MTHFR10.995941146626088197111853989-11853990, 11854091-11854094, 11854098, 11854101
12PLOD110.999084249084252218412023676-12023677
13CLCNKA10.84156976744186327206416349136-16349144, 16351275, 16353258, 16354391-16354400, 16355257, 16355307-16355308, 16355311, 16355630, 16355674-16355701, 16355721, 16356472-16356474, 16356489-16356501, 16356504-16356505, 16356523, 16356526, 16356538-16356539, 16356956-16356976, 16356982-16357076, 16357088, 16357110-16357112, 16357117, 16358205-16358213, 16358268-16358274, 16358325-16358331, 16358703-16358754, 16358762-16358786, 16358947-16358960, 16358992-16358998, 16360141-16360148
14CLCNKB10.959302325581484206416373044-16373050, 16377458-16377481, 16378702-16378704, 16378728-16378763, 16378791, 16378825, 16378854-16378857, 16380252, 16383399-16383405
15ATP13A210.997459779847599354317313602-17313606, 17313615-17313617, 17314948
16ALDH4A110.9923167848699813169219208249, 19209800-19209810, 19212969
17PINK110.9868270332187923174620960062, 20960065, 20960071, 20960197-20960199, 20960253-20960264, 20960271-20960275
18ALPL10.9892063492063517157521900269-21900285
19HSPG210.99301760777171921317622150817, 22151078-22151084, 22151256-22151271, 22154385, 22154642-22154645, 22263648-22263710
20WNT410.9232954545454581105622456339-22456342, 22469339-22469415
21FUCA110.9850107066381221140124194595-24194615
22LDLRAP110.99676375404531392725870242-25870243, 25893431
23SEPN110.89028776978417183166826126722-26126904
24KCNQ410.92624521072797154208841249766-41249899, 41249924-41249934, 41249937-41249938, 41249986-41249989, 41284276-41284278
25SLC2A110.9878296146044618147943424305-43424322
26POMGNT110.9944528492183611198346660226-46660229, 46663446-46663452
27DHCR2410.99935525467441155155352792
28PCSK910.9745069745069753207955505553-55505558, 55518416, 55521677-55521690, 55521713-55521717, 55521720-55521725, 55521839-55521845, 55523779-55523783, 55523794, 55524237, 55524267-55524273
29CTH10.99917898193761121870904404
30COL11A110.99376947040498345457103364497-103364498, 103428248-103428279
31GSTM110.68645357686454206657110230496-110230531, 110230839-110230841, 110230854-110230858, 110231302, 110231709-110231731, 110231871, 110231876-110231947, 110232908-110232910, 110232957, 110232978-110232979, 110232983, 110232988, 110233076-110233131, 110233138
32NOTCH210.99325782092772507416120539668, 120539711, 120539778-120539784, 120539913-120539939, 120548025, 120548051, 120548055, 120548091-120548097, 120572547, 120572572, 120572609-120572610
33FLG10.9852289512555418012186152277402, 152278434, 152279378-152279409, 152279634, 152279642, 152279974, 152280041, 152280274, 152280538-152280539, 152281325, 152281412, 152281418-152281420, 152281496, 152281753, 152282251-152282269, 152282312-152282318, 152282548-152282578, 152283094, 152283098-152283099, 152283262-152283308, 152283739, 152284196, 152284199-152284200, 152284244-152284245, 152284607, 152284610, 152285046-152285055, 152285115, 152285119, 152285217-152285218, 152286012, 152286371, 152287847
34PKLR10.9988405797101421725155269991-155269992
35LMNA10.9994987468671711995156108300
36SEMA4A10.9978127734033252286156131145-156131149
37NTRK110.99289000418235172391156830727-156830743
38F510.99550561797753306675169510380, 169510499-169510527
39HMCN110.99976342559735416908186017928, 186039807-186039808, 186062691
40CFHR110.9869083585095713993196794629, 196794680, 196794740-196794746, 196799637, 196799691, 196801005, 196801042
41USH2A10.99987186879364215609216496854-216496855
42ADCK310.97685185185185451944227153053-227153056, 227153423, 227169748-227169770, 227169794-227169800, 227169828-227169832, 227171796, 227172957, 227173023-227173025
43GJC210.518939393939396351320228345460-228345461, 228345498, 228345510-228345511, 228345545-228345562, 228345575, 228345578, 228345635-228345658, 228345686-228345722, 228345734-228345747, 228345752-228345773, 228345785-228345787, 228345795-228345810, 228345813, 228345858-228345865, 228345877-228345937, 228345949-228345991, 228346000-228346120, 228346130-228346170, 228346196-228346202, 228346232-228346248, 228346281-228346328, 228346336-228346403, 228346410-228346434, 228346449-228346481, 228346536, 228346543, 228346548, 228346551, 228346554, 228346568, 228346625, 228346672-228346684, 228346725
44ACTA110.9991181657848311134229568330
45LYST10.99991232684552111406235907424
46ACTN210.9996275605214212685236924412
47RYR210.99973161567364414904237821276-237821279
48OPTN100.9942329873125710173413151244-13151253
49PTF1A100.8085106382978718998723481516-23481517, 23481557-23481561, 23481618-23481644, 23481723, 23481749-23481750, 23481753-23481785, 23481801-23481816, 23481835-23481838, 23481842-23481854, 23481859-23481860, 23481873-23481925, 23481931-23481949, 23482044-23482054, 23482109
50RET100.96890881913303104334543572707-43572779, 43598020-43598024, 43598044, 43598048-43598061, 43606853-43606859, 43609108, 43609977, 43615643, 43615646
51PCDH15100.998981151299036588955582194-55582199
52SLC29A3100.997899159663873142873082589-73082591
53CDH23100.9964200477327361005673462413, 73464778-73464811, 73464877
54LDB3100.997252747252756218488476213-88476218
55BMPR1A100.9937460913070710159988683143-88683149, 88683474-88683476
56GLUD1100.994633273703049167788854377, 88854450-88854454, 88854479-88854480, 88854496
57PLCE1100.999855261253441690996076382
58HPS1100.99287749287749152106100177347, 100177367-100177369, 100177374-100177380, 100177977-100177980
59FBXW4100.97497982243745311239103454354-103454384
60HTRA1100.830907830907832441443124221170-124221318, 124221329-124221385, 124221404, 124221415-124221417, 124221445-124221478
61HRAS110.9526315789473727570532711, 532726-532749, 533477, 534252
62TALDO1110.95562130177515451014747488-747498, 747508-747516, 747558-747564, 747574-747578, 763350-763352, 763404-763407, 763436-763441
63SLC25A22110.9526748971193446972792581, 792643-792678, 794776-794780, 794887-794890
64PNPLA2110.925412541254131131515819719-819728, 819810, 819860-819873, 819876-819894, 821734-821747, 823584-823585, 824550-824563, 824645-824654, 824726-824754
65CTSD110.937046004842627812391775334, 1775364-1775368, 1778572-1778573, 1780746-1780765, 1785040-1785089
66TNNT3110.712998712998712237771946343, 1947938-1947939, 1954958-1954992, 1955016-1955041, 1955162-1955214, 1955226-1955238, 1955562-1955593, 1955638-1955660, 1955869-1955885, 1956145-1956149, 1959670-1959680, 1959707-1959709, 1959721-1959722
67H19110.99719887955182310712017818-2017819, 2018091
68IGF2110.558368495077363147112154223-2154270, 2154280-2154286, 2154295-2154379, 2154394-2154415, 2154760-2154787, 2154799-2154835, 2154862-2154865, 2156609-2156617, 2156666-2156694, 2156723, 2161365-2161385, 2161396-2161417, 2161507
69TH110.5409523809523872315752185463-2185481, 2185488-2185515, 2185546, 2185557-2185588, 2186489-2186490, 2186507-2186511, 2186537-2186595, 2186904, 2186915-2186916, 2186919-2186921, 2186924, 2186957-2186962, 2186970, 2187256, 2187261-2187268, 2187710-2187779, 2187863-2187924, 2187936, 2187939-2187941, 2187951-2187998, 2188117-2188177, 2188205-2188262, 2188709-2188715, 2189108-2189119, 2189133-2189136, 2189321-2189340, 2189403-2189404, 2189738, 2189793-2189825, 2189834-2189839, 2189842, 2189850, 2190880-2190881, 2190909-2190917, 2190923, 2190929, 2190956-2190974, 2190995, 2191012-2191080, 2191091-2191101, 2191936-2191963, 2191978-2192000
70KCNQ1110.8148695224027637620312466329-2466551, 2466563-2466714, 2593333
71CDKN1C110.144058885383818149512905234-2905261, 2905276-2905292, 2905308-2905356, 2905900-2906581, 2906589-2906618, 2906637-2906644
72HBD110.9842342342342374445255652-5255658
73SMPD1110.993670886075951218966411936-6411947
74ABCC8110.9976822587442111474617498289-17498298, 17498323
75WT1110.9871299871299920155432456660-32456667, 32456719-32456730
76SLC35C1110.999053030303031105645827437
77PEX16110.9798270893371821104145937378, 45939261, 45939265-45939283
78F2110.94489031567683103186946741269, 46741323, 46741391-46741393, 46742079-46742081, 46745011-46745029, 46745039-46745045, 46745048-46745050, 46745056, 46747494-46747511, 46747619-46747637, 46747669-46747672, 46748048-46748059, 46748148, 46748293-46748296, 46750373-46750378, 46751029
79MYBPC3110.9827450980392266382547353715, 47354522, 47367850, 47367860-47367903, 47370031-47370041, 47371598, 47372123, 47372873, 47372944-47372945, 47372949, 47372953, 47372957
80BSCL2110.998560115190782138962472933-62472934
81SLC22A12110.9265944645006122166264359341-64359347, 64360928-64360929, 64361173-64361182, 64367164, 64367168-64367188, 64367194-64367195, 64367239-64367254, 64367263-64367300, 64367322, 64367334, 64367340-64367362
82PYGM110.996836694345598252964521762, 64527129-64527133, 64527147, 64527159
83SPTBN2110.99930294158655717366468742-66468745, 66468748
84PC110.9971727452643510353766638904, 66639186-66639193, 66639196
85CABP4110.98913043478261982867222974, 67223066, 67223074, 67223083, 67223103-67223106, 67223109
86AIP110.7935548841893320599367256814-67256817, 67256825-67256847, 67257509-67257518, 67257559-67257560, 67257571-67257592, 67257606-67257609, 67257627-67257643, 67257787-67257802, 67257811-67257858, 67257898-67257928, 67258292, 67258379-67258387, 67258391, 67258401, 67258412-67258424, 67258445-67258447
87NDUFS8110.612954186413924563367799620, 67799625, 67799653-67799667, 67799671, 67799770-67799786, 67800398, 67800429-67800466, 67800578-67800596, 67800671-67800696, 67800723-67800736, 67803730, 67803735, 67803775-67803823, 67803844-67803848, 67803943-67803970, 67803974-67803980, 67804011, 67804014-67804016, 67804019, 67804023, 67804032, 67804047-67804060
88TCIRG1110.493782591255521262249367808748, 67808771-67808855, 67809220-67809234, 67809257, 67809279-67809281, 67809290-67809296, 67810110-67810138, 67810163, 67810167-67810172, 67810199-67810200, 67810206-67810213, 67810217, 67810227-67810232, 67810235-67810236, 67810240-67810289, 67810292-67810330, 67810420-67810422, 67810452-67810455, 67810458-67810462, 67810478-67810481, 67810838-67810865, 67810902-67810964, 67811038-67811066, 67811100-67811103, 67811106, 67811115-67811120, 67811305-67811339, 67811345-67811368, 67811599-67811605, 67811630-67811656, 67811688-67811699, 67811724-67811736, 67811788-67811811, 67812465, 67812492-67812507, 67812513-67812533, 67812567, 67814900-67814923, 67814952-67814961, 67814979, 67815003-67815022, 67815035-67815039, 67815114-67815125, 67815133, 67815139, 67815147, 67815164-67815222, 67815241-67815271, 67815349-67815351, 67815396-67815403, 67815412-67815414, 67815428-67815439, 67816548-67816593, 67816620-67816621, 67816671, 67816713-67816725, 67816730-67816735, 67817130-67817196, 67817211-67817238, 67817246-67817249, 67817451-67817533, 67817622-67817721, 67817954-67817960, 67817966-67818047, 67818073-67818091, 67818119-67818131, 67818220-67818235
89LRP5110.95585808580858214484868080183-68080273, 68131266, 68131303-68131306, 68131361-68131393, 68207253, 68207349-68207370, 68207380-68207384, 68216390-68216393, 68216396-68216398, 68216451-68216500
90IGHMBP2110.999664654594231298268671471
91DHCR7110.9922969187675111142871146421-71146431
92MYO7A110.766847172081831550664876858867-76858868, 76883794-76883800, 76883817-76883839, 76883842, 76883887-76883903, 76883913-76883931, 76885802-76885805, 76885815-76885841, 76885852-76885872, 76885897-76885944, 76885949, 76886418-76886510, 76888595-76888689, 76890091-76890175, 76890781-76890999, 76891420-76891527, 76892426-76892635, 76892997-76893129, 76893148-76893200, 76893481-76893544, 76893557, 76893572-76893645, 76894113-76894153, 76894174-76894186, 76894195-76894202, 76895654-76895658, 76895692-76895729, 76895750-76895760, 76900389-76900404, 76901067-76901071, 76901074, 76901110-76901115, 76901127-76901184, 76901742-76901747, 76901807-76901809, 76901812, 76901844-76901858, 76901885-76901896, 76903128, 76903287-76903290, 76903297
93FZD4110.995662949194557161486665924-86665930
94DYNC2H1110.99976825028969312945103062326-103062328
95ACAT1110.9992211838006211284107992374
96APOA1110.9340796019900553804116706600-116706606, 116706767-116706812
97CACNA2D4120.99882835383714434141904833-1904836
98CACNA1C120.997713763145861565612788879, 2794934-2794940, 2794974-2794980
99VWF120.998223169864961584426125722-6125728, 6127532-6127538, 6132030
100SCNN1A120.99725651577503621876483811-6483816
101MLL2120.99410136029854981661449425789-49425794, 49427272, 49427279, 49427287, 49427652, 49431514-49431544, 49431589-49431594, 49431671-49431672, 49431827-49431830, 49431833-49431870, 49432598-49432601, 49433007, 49433315, 49434074
102DHH120.999160369437451119149488177
103TUBA1A120.98464912280702745649522210-49522216
104KRT81120.9835309617918325151852682999-52683005, 52684039, 52685171-52685174, 52685177-52685183, 52685188-52685193
105KRT86120.9911019849418213146152695771-52695773, 52696900-52696901, 52696915, 52697949-52697955
106KRT6B120.9722713864306847169552844265, 52845528-52845534, 52845598-52845604, 52845662-52845686, 52845798-52845804
107KRT6C120.9876106194690321169552865925, 52867190, 52867257-52867263, 52867324, 52867339-52867342, 52867457-52867463
108KRT6A120.9917404129793514169552886708-52886714, 52886908-52886914
109SUOX120.9499389499389582163856397433, 56397453, 56397738-56397746, 56397778, 56397781-56397793, 56398061-56398079, 56398085-56398091, 56398164-56398179, 56398309-56398316, 56398690-56398696
110KIF5A120.999031945788963309957963367-57963369
111ATP2A2120.9984020453819153129110784171-110784175
112ATXN2120.857432775240995623942111908413, 112036599-112036827, 112036850-112036889, 112036898-112037116, 112037127-112037168, 112037215, 112037255-112037284
113SDS120.992907801418447987113836606-113836612
114HPD120.9923857868020391182122286909-122286910, 122286954, 122286960-122286961, 122286965, 122286970, 122287646, 122287680
115PUS1120.98676012461059171284132414509-132414524, 132425974
116SACS130.99876273653566171374023909441, 23912999-23913014
117B3GALTL130.9832999331997325149731774253-31774255, 31774258-31774279
118BRCA2130.9999025056059311025732906729
119FREM2130.999684542586753951039261568-39261570
120RB1130.999641191245071278748951122
121ZIC2130.866166353971232141599100634394-100634415, 100634568-100634599, 100635008-100635010, 100637703-100637705, 100637710-100637752, 100637781, 100637788-100637885, 100637925-100637936
122COL4A1130.99780439121756115010110959322-110959324, 110959328, 110959368-110959374
123F7130.457677902621727241335113760156-113760219, 113765033-113765117, 113769982-113770078, 113771165-113771189, 113771843, 113771864, 113771900, 113771909-113771910, 113772727-113772730, 113772743-113772749, 113772760-113772919, 113772928, 113772940-113772986, 113773024-113773082, 113773092, 113773107, 113773112-113773115, 113773131-113773207, 113773227-113773234, 113773244-113773322
124F10130.90252215405591431467113777172-113777239, 113798226-113798233, 113798386, 113801693-113801703, 113803533-113803540, 113803782-113803828
125GRK1130.97340425531915451692114321716, 114321760-114321774, 114321981-114321987, 114322068, 114322202, 114324111, 114325819, 114325946-114325961, 114426089, 114426094
126RPGRIP1140.9987049987055386121795831-21795833, 21795960-21795961
127PABPN1140.932681867535296292123790753-23790758, 23790766, 23790849-23790882, 23790900, 23790930-23790940, 23790945-23790952, 23790972
128MYH6140.999140893470795582023859428, 23861844, 23869543-23869545
129TGM1140.998777506112473245424723956, 24724300-24724301
130FOXG1140.70272108843537437147029236493-29236821, 29236833-29236940
131NKX2-1140.9693200663349937120636986831-36986838, 36986872-36986900
132GCH1140.99601593625498375355369232-55369234
133ZFYVE26140.9986876640419910762068241752-68241761
134VSX2140.993554327808477108674706459-74706465
135EIF2B2140.9839015151515217105675471587-75471603
136POMT2140.9831335996449238225377786877-77786884, 77786941-77786946, 77786950-77786972, 77786977
137ATXN3140.99263351749548108692537321-92537328
138AMN140.2055800293685810821362103389049-103389057, 103389060, 103390060-103390078, 103390097-103390166, 103390298, 103394763-103394790, 103394805-103394810, 103394825-103394850, 103395103-103395312, 103395498-103395536, 103395548, 103395566-103395595, 103395765-103395774, 103395788-103395796, 103395802-103395852, 103395858-103395867, 103395992-103396025, 103396047-103396055, 103396261-103396423, 103396502-103396664, 103396743-103396830, 103396913-103397017
139INF2140.1749333333333330943750105167703-105167730, 105167740-105167751, 105167756-105167870, 105167887-105167963, 105167967, 105167975, 105167984-105168053, 105168084-105168093, 105169442-105169551, 105169648-105169660, 105169684-105169791, 105170253-105170286, 105172372-105172500, 105173255-105173290, 105173302-105173303, 105173308, 105173344-105173385, 105173590-105173609, 105173630, 105173639-105173643, 105173653-105173677, 105173695-105174339, 105174773-105174833, 105174839-105174924, 105175008-105175012, 105175016-105175017, 105175023-105175024, 105175059-105175069, 105175621-105175656, 105175699, 105175712-105175713, 105175957-105175968, 105175979-105176033, 105176425-105176525, 105177274-105177298, 105177318-105177344, 105177416-105177523, 105177966-105177989, 105178011-105178036, 105178770-105178776, 105178781, 105178811-105178857, 105178874-105178890, 105179165-105179235, 105179257-105179329, 105179544-105179574, 105179583-105179603, 105179611-105179646, 105179782-105179943, 105180562-105180583, 105180586, 105180594-105180598, 105180607-105180809, 105180836-105180940, 105180953-105181087, 105181098-105181100, 105181119, 105181128, 105181131-105181148, 105181152-105181162, 105181165-105181167, 105181175-105181193, 105181621-105181652
140NIPA1150.8202020202020217899023086234-23086411
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155HBZ160.804195804195884429203961-203964, 203967, 204063-204095, 204271-204316
156HBA2160.9766899766899810429222962-222971
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256TYK2190.9304152637486248356410463138, 10463622-10463625, 10463677, 10463705-10463724, 10463745-10463774, 10464209-10464240, 10468443, 10468463, 10468484, 10468559, 10468810-10468814, 10469878-10469884, 10473037, 10475311, 10475707-10475708, 10476200-10476216, 10476316-10476318, 10476415, 10476489-10476493, 10478749-10478750, 10488901-10488938, 10488982-10489043, 10489066-10489077
257DNM2190.9816303099885248261310829078, 10870423, 10870426-10870428, 10870475-10870477, 10893717-10893726, 10922962-10922981, 10923029-10923038
258LDLR190.996902826171128258311224251-11224257, 11234011
259PRKCSH190.996219281663526158711558341-11558346
260MAN2B1190.999670619235841303612768947
261GCDH190.995444191343966131713002148-13002152, 13007208
262CACNA1A190.9969418960244623752113318315-13318321, 13318557-13318558, 13318652, 13318658, 13318673-13318678, 13319614, 13319692-13319696
263NOTCH3190.98334768877405116696615281288-15281290, 15285087, 15288552, 15288763, 15288822-15288823, 15302253-15302265, 15302805-15302809, 15302838-15302839, 15302844, 15302890-15302894, 15303033-15303036, 15303046, 15311599-15311600, 15311605, 15311610-15311678, 15311712-15311716
264JAK3190.997629629629638337517940919-17940921, 17950390-17950394
265SLC5A5190.9948240165631510193217984996-17985000, 17985310-17985314
266IL12RB1190.9844142785319331198918197570-18197600
267COMP190.82058047493404408227418893899, 18893996-18894003, 18895119, 18896504-18896514, 18896573-18896574, 18896577-18896579, 18896635-18896636, 18896649, 18896775-18896789, 18896798, 18896818-18896819, 18896845-18896847, 18896855-18896857, 18896885, 18897088-18897091, 18897100, 18898310, 18899031-18899072, 18899402, 18899408, 18899442-18899482, 18899542, 18899545, 18899709-18899722, 18899969-18900051, 18900088-18900106, 18900755, 18900761, 18900806-18900817, 18900830-18900834, 18900842-18900852, 18900855, 18900860-18900863, 18900884-18900923, 18901659-18901677, 18901699-18901744, 18902073-18902077
268CEBPA190.30640668523677747107733792393, 33792412-33792417, 33792473-33792485, 33792538-33792541, 33792576, 33792584-33792585, 33792596-33793315
269SCN1B190.976456009913261980735521725-35521739, 35521747, 35521751, 35521754-35521755
270MAG190.9803296119085637188135790495-35790497, 35790503, 35790509-35790511, 35790548-35790552, 35790569, 35790646, 35790649, 35790655, 35790675-35790676, 35790694-35790701, 35790708, 35790731, 35790740-35790741, 35791079, 35791134-35791138, 35791141
271PRODH2190.995034140285548161136290983, 36290994-36291000
272TYROBP190.99410029498525233936398384, 36398421
273SDHAF1190.97701149425287834836486186-36486192, 36486238
274RYR1190.986571409671232031511738987529-38987533, 38987538, 39055815, 39055847-39055959, 39055970-39055977, 39056010-39056012, 39056025-39056030, 39056033, 39056079-39056080, 39056151-39056177, 39056229-39056240, 39056251, 39056296-39056318
275ACTN4190.91995614035088219273639214635-39214640, 39214698, 39214948-39214979, 39215118-39215124, 39216469-39216489, 39218615-39218662, 39219636-39219664, 39219780-39219794, 39219935-39219944, 39219970-39220003, 39220016-39220031
276DLL3190.9946149703823410185739993615, 39993626-39993628, 39993664-39993669
277PRX190.99840401276797438640909614-40909619, 40909642
278TGFB1190.9897698209718712117341854246-41854249, 41858886, 41858921-41858927
279BCKDHA190.994768310911817133841929005-41929011
280ATP1A3190.99945622620992367842470869, 42470917
281BCAM190.9878113407525223188745312415-45312436, 45312438
282BLOC1S3190.99671592775041260945683101-45683102
283ERCC2190.98204117389441228345867024-45867029, 45867267, 45867324-45867330, 45867514-45867515, 45867685-45867700, 45867704-45867709, 45873445-45873446, 45873798
284SIX5190.54729729729731005222046268778, 46268805-46268817, 46268840-46268889, 46268899-46269003, 46269048, 46269100-46269122, 46269197-46269210, 46269234, 46269241, 46269247-46269255, 46269260-46269262, 46269628-46269640, 46269720-46269747, 46269856-46269880, 46269904-46269928, 46269939-46269955, 46270005-46270037, 46270145-46270161, 46270184-46270206, 46270319, 46270373-46270413, 46271300-46271320, 46271344, 46271349-46271351, 46271354-46271356, 46271391-46271395, 46271416, 46271424, 46271468-46271514, 46271560-46271571, 46271577-46271623, 46271633-46271640, 46271669, 46271672, 46271678-46271690, 46271693-46271712, 46271715-46271767, 46271779-46272102
285DMPK190.90899470899471172189046273801, 46273805, 46273873, 46274230-46274264, 46274309-46274318, 46278217, 46278225, 46280613-46280616, 46280622, 46280627-46280628, 46280787-46280790, 46281086-46281087, 46281760, 46281802-46281803, 46281851, 46281858-46281861, 46282725-46282729, 46283079-46283080, 46283086-46283093, 46283098, 46285458-46285461, 46285495-46285499, 46285523-46285594, 46285604-46285607
286FKRP190.961693548387157148847259129-47259131, 47259252-47259286, 47259496-47259498, 47259677-47259684, 47260166-47260173
287DBP190.7300613496932526497849134110-49134111, 49134160, 49134181-49134183, 49134186, 49138837-49138885, 49138928-49138930, 49138945-49138972, 49138995, 49139018-49139022, 49139052-49139066, 49139075-49139187, 49139193-49139227, 49140191, 49140195, 49140205-49140209, 49140216
288MED25190.9563279857397598224450321619-50321620, 50321630, 50321848-50321861, 50322527-50322529, 50333054-50333059, 50335395, 50335404-50335409, 50338426, 50338428-50338430, 50338801, 50338837, 50339190, 50339488-50339491, 50339496-50339503, 50339544-50339589
289MYH14190.9950908198330930611150764888-50764892, 50770211-50770223, 50789921-50789932
290KCNC3190.80474934036939444227450826429-50826436, 50831548, 50831649-50831681, 50831691-50831694, 50831697, 50831706-50831737, 50831763-50831767, 50831802-50831808, 50831849-50831860, 50831898-50832012, 50832018-50832035, 50832085-50832109, 50832150-50832326, 50832334-50832339
291NLRP12190.9968612680477110318654312884-54312886, 54313591-54313597
292PRKCG190.990926456542519209454393143-54393145, 54393148, 54393198-54393199, 54409971-54409983
293PRPF31190.426861150054621693-54621708, 54621759-54621765, 54621953-54621956, 54625876-54625880, 54625924-54625945, 54625960-54625963, 54626866-54626869, 54626904-54626921, 54627134-54627200, 54627270, 54627281-54627283, 54627878-54627896, 54627917-54628031, 54629932-54629975, 54631449, 54631454, 54631472-54631575, 54631680-54631752, 54632432-54632560, 54632648-54632745, 54634738-54634863
294TSEN34190.9957127545552493354695356-54695359
295NLRP7190.997752087347467311455451167-55451173
296TNNT1190.968314321926492578955644318-55644328, 55645284-55645295, 55652316-55652317
297TNNI3190.954022988505752860955665405-55665412, 55666178-55666190, 55667690-55667696
298TPO20.981798715203435128021520675-1520689, 1520710-1520714, 1520738, 1544366-1544372, 1544411-1544413, 1544426-1544436, 1544487-1544495
299KLF1120.9727095516569242153910183844-10183885
300MYCN20.9885304659498216139516082671, 16082688, 16082733, 16082736, 16082763-16082768, 16082777-16082782
301APOB20.9993426818580291369221225310-21225313, 21225467, 21228111-21228112, 21232803-21232804
302HADHA20.9882198952879627229226414415-26414441
303OTOF20.97280613947281163599426693554-26693556, 26695412-26695414, 26696890-26696895, 26697384-26697385, 26697391, 26697424-26697435, 26697449-26697452, 26697486-26697487, 26699106, 26699175, 26699759-26699784, 26699802-26699806, 26699820-26699830, 26699868-26699911, 26700045-26700069, 26700132-26700134, 26700140, 26700144-26700145, 26702425, 26703810, 26705293-26705301
304SPAST20.995137763371159185132288989, 32289210-32289211, 32289214-32289219
305CYP1B120.9767156862745138163238301853-38301856, 38302002-38302020, 38302412-38302425, 38302457
306SOS120.998750624687665400239281928, 39285892-39285895
307ABCG820.997032640949556202244102366-44102371
308SIX320.996996996997399945169430-45169432
309MSH220.999643493761141280547703595
310MSH620.9769777124663294408348010443-48010448, 48010468-48010474, 48010487-48010488, 48010498-48010515, 48010526-48010573, 48010606, 48010621-48010632
311EFEMP120.995276653171397148256144946-56144952
312SPR20.950381679389313978673114567, 73114687, 73114696-73114708, 73114780-73114801, 73114834, 73114841
313ALMS120.9996801023672441250473613032-73613034, 73828342
314MOGS20.9876690533015131251474689008, 74689608-74689611, 74692191-74692213, 74692260-74692262
315GGCX20.9850680720245934227785787989-85787990, 85788018-85788022, 85788525-85788551
316REEP120.978547854785481360686564613-86564625
317EIF2AK320.997612652939428335188926730-88926732, 88926777-88926781
318TMEM12720.99442119944212471796931074, 96931081-96931082, 96931085
319RANBP220.974056847545222519675109352080, 109357110-109357116, 109363178-109363195, 109367871, 109368074-109368111, 109369882-109369883, 109371656-109371684, 109378557, 109382700-109382734, 109383052-109383058, 109383268-109383301, 109383354-109383360, 109383672-109383713, 109383768-109383774, 109383968-109383982, 109384628-109384634
320GLI220.963663095988241734761121555019, 121708962-121708969, 121728146-121728148, 121729541-121729543, 121746085-121746087, 121746140-121746158, 121746229-121746233, 121746243-121746245, 121746249-121746251, 121746290-121746323, 121746377-121746389, 121746499-121746519, 121746554-121746569, 121746589-121746615, 121747204-121747209, 121747374-121747376, 121748214-121748218
321BIN120.9994388327721711782127827638
322PROC20.98701298701299181386128180695-128180711, 128180727
323CFC120.9776785714285715672131280373-131280382, 131280385, 131280798, 131280801-131280802, 131285397
324LCT20.9996542185338925784136558240-136558241
325HOXD1320.9593023255814421032176957619-176957623, 176957667, 176957670-176957674, 176957691, 176957798-176957822, 176957846-176957849, 176957852
326DFNB5920.9990557129367311059179319089
327CERKL20.9949968730456581599182468662-182468665, 182468768-182468771
328COL3A120.9995455578277724401189871690-189871691
329NDUFS120.9986263736263732184207018370-207018372
330ABCA1220.9998715973292217788215797421
331DES20.98938428874735151413220283209, 220283252-220283253, 220283620-220283626, 220283700-220283703, 220283707
332OBSL120.977859778597791265691220417324, 220417327, 220435504-220435508, 220435599-220435603, 220435678-220435693, 220435738-220435789, 220435801-220435818, 220435873-220435883, 220435938-220435954
333CHRND20.9948519948519981554233390949-233390953, 233398686-233398688
334AGXT20.900763358778631171179241808289-241808297, 241808303-241808359, 241808399, 241808403, 241808414-241808415, 241808426, 241808442, 241808606, 241808612, 241808619-241808628, 241808709-241808713, 241808719-241808725, 241810093, 241810102, 241810766-241810775, 241810787-241810792, 241810847-241810848, 241810855
335D2HGDH20.97254150702427431566242707125-242707129, 242707132, 242707304-242707326, 242707333-242707334, 242707355-242707365, 242707382
336C20orf54200.9943262411347581410746411-746418
337AVP200.84040404040404794953063343-3063371, 3063413, 3063418-3063441, 3063623-3063647
338JAG1200.9857806945583852365710653520-10653521, 10654114-10654163
339SNTA1200.8399209486166243151832031144-32031187, 32031197-32031238, 32031270-32031426
340CTSA200.995991983967946149744520225, 44520229-44520230, 44520238-44520240
341GNAS200.98915989159892873857415181-57415187, 57415243
342GNAS200.9916506101477226311457429067-57429084, 57429105, 57429748, 57429757, 57430376-57430380
343COL9A3200.91046228710462184205561448417-61448494, 61448952-61448953, 61448987, 61455825-61455837, 61456320-61456366, 61458125-61458163, 61461904-61461907
344CHRNA4200.413481953290871105188461978090, 61978115, 61978136-61978193, 61978203-61978207, 61981013-61981091, 61981104, 61981129-61981203, 61981216-61981255, 61981278-61981316, 61981326-61981355, 61981366, 61981376-61981389, 61981407-61981431, 61981455-61981457, 61981466-61981524, 61981543, 61981550-61981557, 61981566-61981583, 61981593-61981686, 61981701-61981735, 61981786, 61981863, 61981866-61981875, 61981903, 61981909, 61981926-61981931, 61981952-61981953, 61981979-61982002, 61982031-61982058, 61982084-61982091, 61982109-61982118, 61982124, 61982139, 61982155, 61982170, 61982223-61982259, 61982299, 61982376, 61987327-61987436, 61987723-61987767, 61990900-61991051, 61992442-61992517
345KCNQ2200.576555937380681109261962037997-62038072, 62038106-62038123, 62038152-62038176, 62038225-62038229, 62038233-62038234, 62038247-62038262, 62038277-62038278, 62038289-62038334, 62038347-62038349, 62038354-62038413, 62038424-62038488, 62038497-62038522, 62038542-62038575, 62038601-62038631, 62038651-62038653, 62038661-62038671, 62039766-62039775, 62039790, 62039827-62039834, 62039864-62039889, 62044815, 62044818-62044819, 62044855-62044863, 62044913-62044916, 62046271-62046284, 62046300, 62046315-62046332, 62046408, 62046412, 62046429, 62046432, 62059755-62059785, 62065184-62065185, 62065188, 62069978-62070016, 62070961-62070973, 62071009, 62071022-62071030, 62071034-62071036, 62073759-62073787, 62073799, 62073802-62073819, 62073823, 62073862-62073863, 62076012-62076034, 62076067-62076076, 62076105, 62076126, 62076152, 62076162, 62076173, 62076600-62076639, 62076645-62076679, 62078105-62078107, 62078131, 62078150-62078174, 62103521-62103816
346SOX18200.19307359307359932115562679530-62679583, 62679616, 62679619-62679634, 62679701-62679702, 62679731-62679802, 62679806-62679810, 62679815-62679827, 62679838-62679840, 62679857, 62679865, 62679873-62679875, 62679879-62679915, 62679921-62680215, 62680245-62680315, 62680512-62680869
347IFNGR2210.9329388560157868101434775855-34775922
348RCAN1210.8181818181818213875935987085, 35987154-35987160, 35987174-35987290, 35987298-35987310
349TMPRSS3210.9824175824175824136543795848-43795871
350CBS210.9861111111111123165644474009, 44476930-44476939, 44478973-44478974, 44479066-44479073, 44480583, 44485530
351AIRE210.82173382173382292163845705909-45705947, 45705993, 45706001, 45706440-45706444, 45706447, 45706459-45706460, 45706501-45706510, 45706871-45706877, 45706970, 45707438-45707474, 45708275, 45709569-45709570, 45709632, 45709639, 45709644-45709650, 45709676, 45709896-45709899, 45709948-45709951, 45711028-45711034, 45711043-45711045, 45712945-45712960, 45712997-45713012, 45713015, 45713056-45713058, 45713675-45713701, 45713725, 45713734, 45713754, 45714284-45714299, 45714311-45714336, 45714344-45714346, 45714360, 45714364, 45714385-45714386, 45716266-45716296, 45716303-45716313
352ITGB2210.9753246753246857231046308611-46308628, 46308651-46308671, 46308712-46308713, 46308781, 46308784-46308793, 46311740-46311744
353COL18A1210.70028490028491578526546875450, 46875770, 46875775-46875783, 46876185, 46876222-46876239, 46876305, 46876310, 46876313, 46876411, 46876503-46876508, 46876518, 46876547-46876583, 46876588, 46876595, 46876643-46876685, 46876704-46876710, 46876754, 46888196-46888201, 46888205, 46888215, 46888218, 46888242-46888256, 46888260-46888265, 46888332, 46888388, 46888471-46888474, 46888512, 46888525, 46893876, 46895393, 46896325-46896376, 46900037, 46906786-46906816, 46906831, 46906843-46906897, 46906906, 46908344, 46909409-46909435, 46910189-46910260, 46910750-46910785, 46911139-46911166, 46911172-46911228, 46912450, 46912601-46912627, 46913077-46913118, 46913436-46913487, 46914459-46914485, 46914776-46914829, 46915277-46915308, 46915315-46915335, 46916418, 46916434-46916482, 46916964-46916997, 46917006, 46917513-46917534, 46917544-46917575, 46923925-46923968, 46924330-46924344, 46924361-46924383, 46924386, 46924393-46924400, 46924410-46924470, 46925048-46925192, 46925272-46925342, 46925752-46925763, 46925781-46925860, 46927475-46927497, 46929360-46929365, 46929385, 46929389, 46929444-46929453, 46929467, 46929978-46929979, 46930013-46930035, 46930047, 46930055-46930058, 46930062-46930065, 46930105-46930132, 46931025-46931053, 46931079-46931087, 46931117, 46931125, 46932102-46932125, 46932198-46932216, 46932283, 46932291, 46932298
354COL6A1210.82604470359572537308747401765-47401861, 47402564-47402580, 47402601, 47402624-47402631, 47402637-47402671, 47402676, 47404276, 47404291, 47404301-47404315, 47404322-47404330, 47404345, 47404357-47404383, 47406455-47406478, 47406483-47406502, 47406511-47406515, 47406534-47406553, 47406557-47406565, 47406864-47406884, 47406908-47406972, 47407413-47407433, 47407524-47407568, 47409025-47409041, 47410172-47410198, 47410292-47410331, 47418080-47418082, 47418316, 47423469, 47423474-47423475, 47423489-47423491
355COL6A2210.76078431372549732306047531391, 47531398-47531399, 47531436, 47531443-47531466, 47531932-47531942, 47531950, 47531956, 47532053-47532059, 47532286-47532296, 47536565-47536591, 47537333-47537336, 47537340, 47537347, 47537789-47537829, 47538543-47538589, 47538995, 47539006-47539033, 47539734-47539749, 47540429-47540434, 47540440-47540480, 47541026-47541034, 47541481-47541484, 47542022-47542023, 47542037, 47542043, 47542050, 47542059-47542072, 47542410-47542425, 47542826-47542851, 47545185-47545187, 47545699, 47545704-47545719, 47545769-47545779, 47545788, 47545853-47545869, 47545947-47545948, 47545969-47545979, 47545983-47545988, 47546069-47546080, 47546087-47546134, 47551872-47551881, 47551907-47551929, 47551970-47551997, 47552003-47552010, 47552024-47552130, 47552166, 47552175-47552184, 47552205, 47552217, 47552244-47552267, 47552298-47552338, 47552385, 47552418-47552420
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357FTCD210.242927429274291231162647556911-47556936, 47557153-47557163, 47557192-47557194, 47557197, 47557218-47557248, 47558422-47558437, 47558463-47558560, 47558794-47558795, 47558806-47558812, 47558816-47558831, 47565331-47565492, 47565732-47565861, 47566180-47566241, 47570033-47570164, 47570302-47570331, 47570395-47570432, 47571487-47571523, 47571561-47571614, 47571620-47571651, 47571806-47571887, 47572825-47572844, 47572850-47572923, 47572937-47572949, 47574063-47574108, 47574126-47574127, 47574138-47574241, 47575399, 47575431
358PCNT210.99390670262711611001147744184-47744196, 47786648-47786649, 47786653, 47831453, 47836729-47836738, 47848357-47848360, 47848366-47848369, 47848373, 47850116-47850139, 47851666
359PRODH220.9095951192457163180318904406-18904419, 18923528-18923598, 18923622-18923623, 18923662-18923707, 18923730-18923746, 18923767-18923779
360GP1BB22062162119711093-19711102, 19711377-19711987
361TBX1220.48319892473118769148819747167-19747181, 19747200, 19748428-19748708, 19748741-19748761, 19753289-19753291, 19753298-19753299, 19753302-19753303, 19753316, 19753342, 19753429-19753513, 19753912-19754049, 19754060-19754075, 19754091, 19754100-19754140, 19754181-19754200, 19754203, 19754223-19754312, 19754321-19754370
362SMARCB1220.9913644214162310115824175846-24175854, 24175857
363UPB1220.99913419913421115524919726
364CHEK2220.93412833617263116176129083885-29083917, 29083929-29083965, 29085137-29085175, 29126408-29126414
365TCN2220.9859813084112218128431003319-31003322, 31003336, 31010468, 31011362-31011368, 31022455-31022459
366TRIOBP220.94787264018033370709838111873, 38119879-38119905, 38120029-38120068, 38120176-38120178, 38120429, 38120935-38120941, 38121721-38121722, 38121735, 38121848-38121851, 38121855, 38121861, 38122038-38122044, 38122088-38122091, 38122122, 38122126, 38122140-38122144, 38122236, 38122250-38122260, 38122306-38122312, 38122448, 38122462, 38122486-38122508, 38129342-38129349, 38129386-38129405, 38130436-38130440, 38130448-38130450, 38130516, 38130529-38130542, 38130584-38130599, 38130625-38130646, 38130649, 38130658-38130660, 38130666-38130677, 38130806, 38130809-38130815, 38130864, 38130911-38130922, 38131021-38131045, 38131067-38131076, 38131110-38131119, 38131124, 38131239-38131249, 38131334-38131360, 38131391, 38131411, 38136915-38136917, 38165162-38165166
367PLA2G6220.4233128834355828248938508274-38508300, 38508511-38508529, 38508558-38508576, 38508582-38508584, 38509498, 38509524-38509528, 38509561-38509621, 38509641-38509679, 38509692-38509694, 38509738-38509796, 38509814-38509859
368PLA2G6220.85047501032631362242138508168-38508190, 38508197-38508213, 38508220-38508300, 38508511-38508529, 38508558-38508576, 38508582-38508584, 38509498, 38509524-38509528, 38509561-38509621, 38509641-38509661, 38511558-38511566, 38511594-38511611, 38511624-38511641, 38511656-38511662, 38511673, 38511679-38511682, 38512082-38512100, 38512103-38512109, 38512171-38512178, 38512208-38512218, 38516892, 38519182-38519185, 38519261-38519265
369TNFRSF13C220.6612612612612618855542322117, 42322155-42322156, 42322166-42322185, 42322206-42322250, 42322259-42322330, 42322646-42322653, 42322658, 42322695-42322697, 42322700-42322702, 42322705, 42322716-42322747
370CYB5R3220.99668874172185390643045301, 43045320-43045321
371TRMU220.996050552922595126646731723-46731724, 46731727-46731729
372ALG12220.99454669393328146750301564, 50303709, 50304162-50304167
373MLC1220.9761904761904827113450502467-50502490, 50502625-50502627
374SCO2220.99126092384519780150962662-50962668
375TYMP220.743961352657371144950964211-50964212, 50964253-50964347, 50964430-50964515, 50964522, 50964526-50964527, 50964536-50964570, 50964701-50964709, 50964726-50964753, 50964762-50964770, 50964809, 50964812-50964825, 50964856-50964898, 50965028-50965034, 50965085-50965089, 50967739-50967759, 50967958, 50967967, 50968017-50968022, 50968058, 50968062, 50968119-50968121
376ARSA220.92782152230971110152451063612, 51063627-51063631, 51063665-51063685, 51063718-51063722, 51063782-51063827, 51063875-51063877, 51064032-51064040, 51064472-51064485, 51065420, 51065423, 51066195-51066198
377SHANK3220.557780320366132319524451113070-51113132, 51113476-51113679, 51115050-51115080, 51115090-51115112, 51117031-51117059, 51117075-51117109, 51117113-51117121, 51117199-51117203, 51117210-51117315, 51117334-51117348, 51117447-51117460, 51117470-51117471, 51117484-51117614, 51117740-51117807, 51117818-51117856, 51121768-51121845, 51123013-51123079, 51133286, 51133353-51133381, 51133462-51133463, 51135672, 51135677-51135719, 51135951-51136143, 51137208, 51144500-51144517, 51144570-51144579, 51158659-51158664, 51158669, 51158696-51158764, 51158773-51159244, 51159250-51159296, 51159299, 51159315-51159346, 51159353-51159377, 51159384, 51159389, 51159394-51159395, 51159399-51159439, 51159459-51159476, 51159601-51159614, 51159666-51159671, 51159929-51159953, 51160002-51160005, 51160283-51160290, 51160809-51160815, 51169149-51169158, 51169180-51169240, 51169275-51169287, 51169293-51169295, 51169388-51169395, 51169412-51169513, 51169535-51169540, 51169563-51169567, 51169575-51169611, 51169634-51169698, 51169707-51169714, 51169717-51169718, 51169730, 51169735
378FANCD230.97690217391304102441610085216-10085222, 10085533-10085548, 10088299, 10088308, 10088401-10088407, 10089723, 10091150-10091156, 10106529-10106535, 10107165-10107171, 10107584-10107590, 10108893-10108901, 10114557, 10114612-10114618, 10114651-10114665, 10116319-10116325, 10127601, 10140551
379VHL30.975077881619941664210183541, 10183682-10183691, 10183737-10183741
380CRTAP30.9908789386401311120633155863-33155872, 33155884
381TMIE30.840958605664497345946742919-46742934, 46742948-46742974, 46743014-46743041, 46750734-46750735
382TMIE30.929936305732483347146743014-46743041, 46750734-46750735, 46751074-46751076
383COL7A130.9975099037917422883548617023-48617037, 48625261, 48627140-48627145
384SLC25A2030.99889624724062190648936227
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386HYAL130.996177370030585130850339615-50339619
387TKT30.9877136752136823187253289852-53289859, 53289886-53289900
388FLNB30.999487770521194780957994393-57994396
389ATXN730.89041578576462311283863898275-63898291, 63898306-63898599
390PROK230.98205128205128739071834145-71834151
391ARL13B30.9347319347319384128793755552-93755553, 93758777, 93761859-93761861, 93761882-93761892, 93761918, 93761923-93761936, 93761942-93761944, 93762034-93762052, 93762068-93762084, 93768257-93768269
392CPOX30.9633699633699650136598307613, 98312144-98312147, 98312150, 98312160, 98312188-98312213, 98312267-98312283
393UMPS30.99861399861421443124456648-124456649
394NPHP330.9994991234660723993132441069-132441070
395FOXL230.95313881520778531131138664650-138664655, 138664671, 138664794, 138664797-138664800, 138664866-138664893, 138665048-138665060
396MCCC130.9977043158861352178182804521-182804525
397ALG330.97342444950645351317183961763-183961766, 183966616-183966633, 183966682-183966686, 183966712-183966719
398CLCN230.99555061179088122697184071467-184071468, 184072343-184072350, 184072751, 184074847
399CPN230.96947496947497501638194061845-194061851, 194061882, 194061960-194061971, 194062004-194062016, 194062112, 194062197-194062206, 194062312, 194062347, 194062519, 194062633, 194062689, 194062872
400PDE6B40.98011695906433512565619523, 619528, 619531, 647641, 650714-650751, 651281-651283, 652776-652777, 661749-661751, 663879
401IDUA40.4225280326197811331962980877-980926, 980931-980933, 980964, 980971-980973, 980977-980998, 981013-981030, 981616-981684, 981712-981720, 981726-981730, 994400-994415, 994475, 994721, 994752, 994755-994756, 994759-994761, 994768, 995467-995489, 995508-995512, 995519-995522, 995564, 995569-995608, 995638-995643, 995783-995827, 995901-995949, 996058-996084, 996099-996140, 996158-996273, 996520-996732, 996824-996945, 997133-997258, 997337-997404, 997413, 997845-997846, 997849, 998048-998079, 998089-998092, 998151
402FGFR340.8541409147095235424271795662-1795754, 1795760-1795770, 1800988-1800996, 1801032, 1801072, 1801139-1801148, 1801175, 1801184, 1801188-1801190, 1801474, 1801498-1801519, 1801533-1801538, 1803195, 1803213, 1803219-1803220, 1803257, 1803260-1803263, 1803349-1803365, 1803447-1803455, 1803458, 1803596, 1803599-1803602, 1803655-1803660, 1803738, 1803748-1803752, 1806067-1806073, 1806078-1806082, 1806086-1806087, 1806181, 1806565, 1806647, 1806653-1806687, 1807136-1807141, 1807377, 1807383-1807393, 1807486-1807520, 1807537-1807543, 1807989, 1808007, 1808296-1808297, 1808556-1808568, 1808642-1808645, 1808957, 1808961, 1808968, 1808971-1808972, 1808975-1808977, 1808980
403SH3BP240.966074313408726318572819960-2820009, 2820061-2820073
404HTT40.9751829462297223494293076590-3076603, 3076604-3076809, 3240181-3240183, 3240309, 3240548-3240549, 3241756-3241763
405DOK740.7544554455445537215153465117-3465156, 3465233-3465238, 3465252-3465278, 3475151, 3475165-3475168, 3478172, 3478184-3478189, 3478200, 3494508-3494511, 3494540, 3494545, 3494565-3494575, 3494578-3494584, 3494614-3494659, 3494672, 3494736-3494740, 3494752, 3494779-3494817, 3494823-3494851, 3494893-3494898, 3494961-3494968, 3494996-3495088, 3495091-3495099, 3495129-3495152, 3495191
406DOK740.588832487309642435913494508-3494511, 3494540, 3494545, 3494565-3494575, 3494578-3494584, 3494614-3494659, 3494672, 3494736-3494740, 3494752, 3494779-3494817, 3494823-3494851, 3494893-3494898, 3494961-3494968, 3494996-3495079
407EVC40.967438737831499729795713115-5713137, 5713140, 5713145-5713213, 5754762-5754765
408COQ240.99826839826842115584205902-84205903
409PKD240.9769521843825267290788928886-88928887, 88928907-88928957, 88929009, 88929017-88929019, 88929022-88929024, 88929034-88929040
410CISD240.9583333333333317408103808506-103808522
411CTSO40.996894409937893966156863480, 156863518, 156863563
412GLRB40.994645247657381494158041711-158041714, 158060078-158060081
413GK40.98014440433213331662166199358-166199364, 166199584-166199609
414SDHA50.96942355889724611995218496-218500, 223682-223683, 236676-236678, 251190-251218, 251562-251583
415SLC6A1950.6388451443569668819051201766-1201775, 1201796-1201803, 1201818-1201883, 1201893-1201925, 1201954-1201967, 1208861, 1208914-1208916, 1208933-1209001, 1210559-1210570, 1210580-1210603, 1210609-1210611, 1210626, 1210629, 1210646, 1210664-1210680, 1212438-1212439, 1212444-1212447, 1212450, 1212458-1212459, 1212466, 1212471, 1212478-1212481, 1212522-1212565, 1212575-1212591, 1213578-1213660, 1213676-1213688, 1214068-1214142, 1216677-1216690, 1217012-1217050, 1219018-1219029, 1219134, 1219198, 1219207-1219222, 1219620-1219640, 1219660-1219718, 1219742-1219754, 1221334, 1221337
416TERT50.6954986760812103533991253862, 1254530-1254537, 1254548, 1254551, 1254565-1254572, 1258713-1258758, 1264548-1264549, 1264555-1264559, 1264562-1264572, 1264600, 1266649-1266650, 1268635-1268647, 1268668-1268727, 1268745-1268748, 1271234-1271247, 1271257-1271319, 1272300-1272395, 1278798-1278806, 1278887, 1278891-1278894, 1279417-1279464, 1279478-1279487, 1279503-1279566, 1279575, 1279585, 1280291-1280390, 1280406-1280421, 1293649, 1293735-1293753, 1293765-1293785, 1293798, 1293922-1293926, 1294247-1294250, 1294280-1294282, 1294287-1294289, 1294292-1294293, 1294335-1294337, 1294432-1294438, 1294485-1294493, 1294555-1294643, 1294661-1294696, 1294707-1294732, 1294738, 1294741-1294744, 1294759-1294771, 1294886-1294908, 1294916-1294965, 1294972-1295096
417SLC6A350.7230273752012951618631406332, 1406351, 1406365-1406367, 1406370-1406388, 1409148, 1409159-1409195, 1409203-1409211, 1409215, 1409229, 1409234, 1409836-1409848, 1409869-1409955, 1411366-1411368, 1411396, 1411431-1411445, 1411448-1411452, 1411455, 1414811-1414930, 1420684-1420765, 1420772-1420811, 1422015-1422058, 1422078-1422102, 1422121-1422126
418SDHA50.9785932721712573271593261-1593267
419DNAH550.99884684684685161387513916490-13916505
420FAM134B50.9712182061579743149416616892-16616909, 16616918, 16616927-16616929, 16616934-16616937, 16616961-16616977
421LIFR50.9957498482088614329438496533-38496545, 38506048
422ARSB50.9850187265917624160278280996-78280998, 78281047-78281067
423APC50.9998827941865918532112111326
424LMNB150.90459965928451681761126113201-126113213, 126113239-126113253, 126113258, 126113276, 126113282-126113293, 126113390-126113508, 126113515-126113521
425SLC22A550.9976105137395541674131705882, 131705920, 131705924, 131705949
426MYOT50.9993319973279911497137221870
427TCOF150.9986225895316864356149737395-149737400
428MSX250.995024875621894804174151901-174151904
429F1250.98160173160173341848176830494, 176830525, 176830579-176830582, 176830968-176830992, 176831041, 176831826-176831827
430NHP250.9632034632034617462177580726-177580735, 177580746-177580750, 177580755, 177580758
431GRM650.99050873196659252634178421671-178421692, 178421925-178421926, 178421932
432SQSTM150.94406651549509741323179247941, 179247944-179247948, 179248001-179248003, 179248007, 179248011-179248018, 179248028-179248057, 179248073-179248090, 179248121-179248127, 179248141
433FLT450.4056695992179924324092180038331-180038332, 180038467-180038468, 180043377, 180043388, 180043452-180043471, 180043489, 180043946-180043948, 180045770-180045920, 180046021-180046098, 180046263-180046366, 180046665-180046673, 180046685-180046733, 180046754-180046769, 180047173-180047176, 180047196-180047267, 180047283-180047308, 180047609-180047622, 180047647-180047655, 180047682-180047701, 180047883-180047926, 180047952-180048007, 180048106-180048130, 180048145-180048186, 180048202-180048252, 180048542-180048552, 180048580-180048584, 180048631, 180048671-180048677, 180048701-180048736, 180048817-180048860, 180048888-180048904, 180049731-180049828, 180049838-180049839, 180050935-180050956, 180050980-180051020, 180051038, 180051042-180051059, 180052869-180052939, 180052948-180053031, 180053111-180053252, 180053261-180053265, 180055882-180055892, 180055905, 180055918-180055944, 180055949-180055951, 180055968-180055999, 180056259-180056427, 180056696-180056835, 180056943-180056981, 180056987-180057105, 180057225-180057337, 180057555-180057799, 180058682-180058692, 180058702, 180058710-180058764, 180058768-180058769, 180058772, 180076488-180076545
434FOXC160.6678700361010855216621610737-1610739, 1610762-1610792, 1610873-1610876, 1611082-1611099, 1611162-1611194, 1611267-1611305, 1611311-1611344, 1611389-1611459, 1611462-1611464, 1611491-1611549, 1611556, 1611562, 1611580-1611707, 1611718-1611754, 1611772-1611774, 1611778-1611829, 1611898-1611904, 1612018-1612023, 1612028-1612036, 1612120-1612132
435TUBB2B60.986547085201791813383225002-3225004, 3225446-3225447, 3225457, 3225714, 3225928-3225936, 3227758-3227759
436ATXN160.9599673202614498244816327862-16327959
437ALDH5A160.996357012750466164724495391-24495396
438HLA-H60.7986666666666715175029855817-29855823, 29855949-29855972, 29856268-29856269, 29856308-29856356, 29856422-29856442, 29856468-29856475, 29856511, 29856593-29856614, 29856630-29856646
439NEU160.997596153846153124831829838-31829840
440TNXB60.93416277864178127192931976896-31976929, 31977388-31977394, 31977994-31978001, 31978498-31978517, 31979476-31979482, 31979567-31979573, 31979960-31980003
441CYP21A260.9623655913978556148832006211-32006253, 32006317, 32006337, 32006886, 32007843-32007849, 32008688, 32008896, 32008904
442TNXB60.99340089559274841272932009648-32009664, 32010123-32010129, 32010252, 32010255-32010257, 32010728-32010735, 32011232-32011251, 32012330-32012336, 32012378, 32012381, 32012421-32012427, 32012814-32012820, 32026085, 32026094-32026097
443HLA-DQA160.910156256976832605236-32605237, 32609097, 32609105, 32609126, 32609192, 32609949-32609977, 32609999-32610012, 32610387-32610406
444HLA-DQB160.8689567430025410378632629124-32629173, 32629193, 32629891, 32629904, 32629932-32629958, 32634300-32634302, 32634306, 32634366-32634384
445SYNGAP160.9833829365079467403233388042-33388108
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447MOCS160.78859236002093404191139893422-39893589, 39895068-39895242, 39895257-39895317
448PRPH260.999039385206531104142672157
449RUNX260.994252873563229156645390446-45390448, 45390487-45390489, 45390492, 45390511, 45390523
450MUT60.996449178872618225349409565-49409572
451RIMS160.999409332545783507972892273, 72892279, 72892451
452SIM160.9995654063450712301100838813
453PDSS260.9958333333333351200107780268-107780272
454OSTM160.98407960199005161005108395715, 108395741-108395742, 108395803-108395806, 108395811-108395815, 108395852-108395855
455LAMA260.9995727865000549363129712755-129712758
456ENPP160.98704103671706362778132129176-132129209, 132203570, 132203573
457AHI160.9974937343358493591135754379-135754387
458PEX760.990740740740749972137143860-137143868
459EPM2A60.9889558232931711996146056581-146056591
460TBP60.896078431372551061020170871010-170871109, 170871129-170871134
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462PMS270.99652375434531925896013149-6013156, 6026988
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465GLI370.999367488931063474342005134, 42005531, 42005747
466PGAM270.99737532808399276244104973, 44104976
467GCK70.99714489650254140144186119, 44191902-44191904
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469EGFR70.9856867602532352363355086971-55086973, 55086984, 55086989-55087036
470GUSB70.998977505112472195665441006-65441007
471ASL70.70537634408602411139565546964, 65546967, 65546982, 65547378-65547384, 65547868-65547878, 65548084-65548090, 65548096-65548111, 65551572-65551583, 65551735, 65551740-65551757, 65551768-65551772, 65551791-65551800, 65553802-65553858, 65553882-65553899, 65553906-65553907, 65554078-65554088, 65554102-65554106, 65554128-65554162, 65554282-65554296, 65554599-65554606, 65554613-65554626, 65554677, 65554682, 65557011-65557038, 65557544-65557590, 65557609-65557641, 65557755-65557775, 65557798-65557801, 65557804-65557818, 65557822-65557823, 65557854-65557856, 65557859
472KCTD770.959770114942533587066094132-66094143, 66094147-66094155, 66094158, 66094169-66094181
473NCF170.964848484848482982572640033-72640041, 72643707, 72645924-72645942
474ELN70.93149425287356149217573442518-73442599, 73456955-73456969, 73466155-73466157, 73466262-73466293, 73477675-73477691
475NCF170.9624893435635144117374197313, 74199619-74199625, 74202978-74203013
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477HSPB170.951456310679613061875932063-75932070, 75932126, 75932255-75932275
478CFTR70.97996848975917894443117188713-117188753, 117188760-117188800, 117188847-117188853
479IMPDH170.9988888888888921800128049841, 128049857
480FLNC70.984103692834431308178128470708-128470752, 128470777-128470784, 128470833, 128470838, 128470847-128470873, 128470922-128470925, 128470957-128470984, 128471004-128471019
481BRAF70.997392438070462301140624404-140624409
482PRSS170.997311827956992744142460313, 142460335
483KCNH270.967528735632181133480150642455-150642462, 150655170, 150671878-150671900, 150671933, 150671973-150671976, 150674926-150675001
484PRKAG270.97543859649123421710151329155-151329165, 151329194-151329224
485SHH70.780417566594673051389155595594-155595628, 155595635-155595675, 155595684-155595692, 155595720-155595728, 155595732-155595740, 155595746-155595830, 155595871-155595905, 155595932-155595948, 155596037, 155596089-155596133, 155596146-155596155, 155596159, 155596309-155596316
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488ASAH180.9966329966334118817941518-17941521
489CHRNA280.9930817610062911159027320575-27320577, 27320580, 27321078-27321083, 27321222
490ANK180.998946259220236569441554207, 41583419-41583423
491HGSNAT80.93920335429769116190842995640-42995717, 42995720-42995757
492TTPA80.99880525686977183763998495
493TMEM7080.99489144316731478374888531-74888534
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496CYP11B180.9953703703703771512143958527-143958533
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501DOCK890.9984126984127106300396881, 404973-404981
502VLDLR90.992372234935162026222622225-2622244
503GLDC90.988573294156063530636645465-6645499
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510TGFBR190.96759259259259491512101867511-101867521, 101867547-101867584
511ABCA190.9998526377836716786107547695
512DFNB3190.9974302496328972724117267035-117267041
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514LMX1B90.9919571045576491119129376859-129376867
515STXBP190.99227373068433141812130374706-130374719
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525LHX390.797353184449962451209139089305-139089344, 139089407, 139090555-139090557, 139090650, 139090764-139090863, 139090870, 139090888-139090894, 139094792-139094882, 139094885
526INPP5E90.744186046511634951935139326278-139326326, 139326387-139326405, 139326418-139326419, 139326430-139326437, 139327637, 139327646-139327647, 139327715-139327731, 139328501-139328519, 139329253, 139333066-139333090, 139333114-139333142, 139333157, 139333162, 139333240, 139333248-139333273, 139333286-139333324, 139333336, 139333346-139333356, 139333364-139333391, 139333419-139333422, 139333436, 139333439-139333447, 139333450, 139333465-139333469, 139333490-139333530, 139333577, 139333592-139333600, 139333613-139333682, 139333727-139333787, 139333845-139333846, 139333849-139333857, 139333866, 139333869
527NOTCH190.6765779864371424807668139390525-139390527, 139390852-139390886, 139390916-139390926, 139391037-139391038, 139391249-139391253, 139391313, 139391387-139391389, 139391393, 139391398, 139391400-139391407, 139391414, 139391432-139391438, 139391460-139391461, 139391508-139391516, 139391521-139391551, 139391608, 139391612-139391618, 139391636, 139391648, 139391676-139391679, 139391773, 139391799-139391801, 139391849-139391866, 139391900-139391903, 139391963, 139391974, 139391986, 139393604-139393611, 139393652, 139395023-139395038, 139395127-139395128, 139395132, 139395135-139395176, 139395182-139395224, 139395244, 139395251, 139396258-139396260, 139396271-139396273, 139396308, 139396469, 139396876, 139396883-139396887, 139396912-139396940, 139399180-139399238, 139399372-139399410, 139399423-139399426, 139399538, 139399851, 139399855-139399858, 139399966-139399975, 139399984, 139400194, 139400197, 139400205, 139400208-139400216, 139400248, 139400284, 139400288, 139400292-139400294, 139400306-139400314, 139400326, 139400979-139401006, 139401061-139401070, 139401079-139401083, 139401188, 139401275, 139401291-139401292, 139402407-139402433, 139402458-139402465, 139402514, 139402692-139402696, 139402701-139402718, 139402723, 139402731-139402732, 139402751-139402752, 139402820-139402821, 139403365, 139403515-139403518, 139403522-139403523, 139404205-139404223, 139404226, 139405150, 139405206, 139405225, 139405250, 139407477-139407552, 139407586, 139407844, 139407881-139407895, 139407931-139407950, 139407962, 139408962-139408963, 139408993-139409028, 139409050, 139409056, 139409059-139409060, 139409066, 139409071-139409083, 139409114-139409119, 139409123-139409147, 139409742-139409750, 139409784-139409787, 139409791-139409817, 139409820, 139409839-139409852, 139409935-139410026, 139410042-139410100, 139410128-139410157, 139410438-139410483, 139410514-139410542, 139411724-139411796, 139411813-139411837, 139412204-139412224, 139412234-139412385, 139412589-139412609, 139412616-139412665, 139412674-139412718, 139412727-139412744, 139413044-139413108, 139413112-139413115, 139413128-139413206, 139413260-139413261, 139413267-139413273, 139413895-139413921, 139413987-139414016, 139417302-139417640, 139418169-139418431, 139438476-139438510, 139438516-139438554, 139440178-139440238
528AGPAT290.44563918757467464837139568204-139568235, 139568322-139568379, 139569219-139569223, 139571037-139571087, 139571106-139571107, 139571115, 139571413-139571414, 139571446-139571469, 139571502-139571517, 139571520-139571521, 139571531-139571532, 139571550, 139571875-139571942, 139571976-139571993, 139581628-139581809
529SLC34A390.4416666666666710051800140127033-140127040, 140127051, 140127057, 140127072-140127082, 140127124, 140127144-140127155, 140127249, 140127321, 140127337-140127339, 140127343, 140127361, 140127462-140127466, 140127544-140127553, 140127712-140127735, 140127786-140127787, 140127791-140127799, 140127814-140127856, 140128085, 140128090-140128102, 140128115-140128131, 140128145-140128146, 140128153, 140128157-140128163, 140128315-140128393, 140128561-140128658, 140128664-140128697, 140128707-140128722, 140128868-140128929, 140128941-140128984, 140129059-140129076, 140129079, 140129098-140129164, 140130404-140130647, 140130664-140130696, 140130704-140130833, 140130848-140130851
530EHMT190.841416474210936183897140513481-140513501, 140605442, 140605453-140605465, 140611078-140611634, 140622939-140622957, 140728957-140728963
531SHOXX0.62912400455063326879591633-591640, 591660-591731, 591752-591754, 591768-591769, 591775, 591778-591805, 591812-591814, 591818, 591827-591831, 591848-591851, 591855-591866, 591875-591909, 595364-595367, 595379-595410, 595446-595561
532CSF2RAX0.6528735632183945313051404671, 1404674, 1404677-1404679, 1404699-1404705, 1404774-1404788, 1404809-1404813, 1409302-1409319, 1413259-1413288, 1413296-1413320, 1413325, 1413334-1413354, 1414344-1414349, 1419384-1419519, 1422154-1422247, 1422816-1422898, 1424377-1424383
533SMSX0.9800181653042722110121958965-21958986
534ARXX0.9490822972172986168925031522, 25031527, 25031645-25031647, 25031654-25031682, 25031707-25031757, 25031766
535RPGRX0.84070540618676551345938145135-38145142, 38145158-38145194, 38145291-38145312, 38145324-38145739, 38145750, 38145777, 38145863, 38145868, 38145931-38145948, 38145973-38146014, 38147124-38147125, 38147231-38147232
536NYXX0.9861687413554620144641333941-41333960
537ARX0.997828447339856276366765159-66765164
538NLGN3X0.998793727382393248770387096-70387098
539TAF1X0.9945441745864131568270586180-70586210
540PCDH19X0.9912280701754429330699663352-99663355, 99663401-99663407, 99663562, 99663566-99663578, 99663581, 99663584, 99663588, 99663591
541BTKX0.9974747474747551980100608209-100608213
542XIAPX0.98929049531459161494123025115-123025123, 123040945-123040951
543SOX3X0.9992542878448911341139586499
544SLC6A8X0.850104821802942861908152954047-152954291, 152959470-152959472, 152959682-152959704, 152959840-152959846, 152959900, 152960588-152960594
545ABCD1X0.775692582663095022238152990734-152990790, 152990795-152990796, 152990800-152990802, 152990859-152990880, 152990889-152990930, 152990956-152991002, 152991051-152991058, 152991088-152991105, 152991133-152991167, 152991179-152991208, 152991276-152991280, 152991296, 152991404-152991436, 152991537-152991580, 153001664-153001677, 153001802-153001838, 153001965-153001967, 153002636-153002642, 153002677, 153006070-153006079, 153006137, 153006141, 153008474-153008476, 153008675-153008678, 153008981-153008987, 153009014-153009033, 153009083-153009129
546MECP2X0.96459585838343531497153363061-153363062, 153363072-153363122
547OPN1MWX0.9945205479452161095153457268-153457273
548OPN1MWX0.9945205479452161095153494386-153494391
549FLNAX0.939073514602224847944153577217-153577220, 153577355-153577363, 153577389, 153577396-153577404, 153577765-153577769, 153577920-153577924, 153578525-153578526, 153578529-153578536, 153580325-153580333, 153580549, 153580620-153580627, 153581036-153581043, 153581148-153581152, 153581400, 153581411-153581424, 153581536, 153582990-153582996, 153583024, 153583028-153583055, 153583209-153583212, 153583352-153583356, 153585640-153585642, 153585819-153585826, 153586567-153586579, 153586840-153586846, 153587622-153587629, 153587773, 153588120-153588127, 153588154-153588155, 153588387-153588394, 153588455-153588464, 153588521, 153588745-153588752, 153588828-153588857, 153588864, 153588869, 153588872, 153588898-153588904, 153588913, 153589688-153589699, 153589744-153589763, 153589768-153589770, 153589807, 153589824, 153589827-153589832, 153590050, 153590053, 153590622, 153591047, 153591052-153591060, 153592533, 153593045, 153593776, 153593779, 153593816-153593830, 153594760-153594766, 153594823-153594824, 153595771, 153596255-153596270, 153596287, 153596298-153596301, 153596350-153596353, 153596358, 153599288-153599294, 153599416-153599443, 153599457-153599480, 153599553-153599613
550EMDX0.9137254901960866765153607900-153607925, 153608067-153608084, 153608597-153608609, 153609448-153609455, 153609532
551TAZX0.991128010139427789153640181-153640185, 153640430-153640431
VariantPhase/
Zygosity
Allele freqImpactEvaluationSummary / Info
3MTRR-I49Mhomozygous0.451Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
3MTRR-S202Lhet unknown0.328Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2PAX8-F329Lhet unknown0.020Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.018 (benign), Testable gene in GeneTests
2SEPT9-P145Lhomozygous0.081Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.926 (probably damaging), 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
2PRODH-R521Qhomozygous0.904Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2PRODH-T466Mhet unknown0.002Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
2PRODH-W185Rhet unknown0.675Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
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
2C3-P314Lhet unknown0.146Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.159 (benign), Testable gene in GeneTests with associated GeneReview
2C3-R102Ghet unknown0.152Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.044 (benign), Testable gene in GeneTests with associated GeneReview
2PCSK9-A53Vhet unknown0.096Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2PCSK9-G670Ehomozygous0.888Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-S4338Nhomozygous0.802Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-E4181Khet unknown0.167Unknown
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-A618Vhomozygous0.366Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2TPMT-A80Phet unknown0.001Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
1.5PRNP-M129Vhet unknown0.340Complex/Other
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.628 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1.125LDLRAP1-S202Phet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.803 (possibly damaging), Testable gene in GeneTests
1.125LDLRAP1-R238Whet unknown0.035Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests
1DEFB126-P106Shifthomozygous0.023Unknown
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
1SP100-V399ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SP100-M826Thet unknown0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
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
1HADHB-T2TThomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1COL6A2-S399Nhomozygous0.730Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1COL6A2-S931Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1COL6A2-S931Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1COL6A2-G935Rhomozygous0.082Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.036 (benign), Testable gene in GeneTests with associated GeneReview
1FERMT1-R526Khomozygous0.073Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1FERMT1-R255Chet unknown0.064Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests
1FERMT1-I160Thet unknown0.106Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.004 (benign), Testable gene in GeneTests
1NR_015394-T113ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1CNGA1-S3FhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1C5orf20-R117*homozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
1C5orf20-N97DhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1C5orf20-T75PhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1KCP-G1196Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
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
1NHLRC1-P111Lhomozygous0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.992 (probably damaging), Testable gene in GeneTests with associated GeneReview
1ATXN7-K264Rhet unknown0.099Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.949 (probably damaging), Testable gene in GeneTests with associated GeneReview
1ATXN7-V862Mhet unknown0.394Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CCDC66-D5ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1CCDC66-Q383Rhomozygous0.955Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1CCDC66-R460Qhomozygous0.402Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
1KRTAP7-1-I61Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1KRTAP7-1-S51Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1KRTAP7-1-Y17ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1APOE-R176Chet unknown0.068Complex/Other
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests
1SCARF2-A832Ghomozygous0.650Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SCARF2-A814Ghet unknown0.287Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SCARF2-DV772ELhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1SCARF2-E764ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SCARF2-P747ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SCARF2-A745ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF167-N494ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ARSA-N350Shet unknown0.183Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.012 (benign), Testable gene in GeneTests with associated GeneReview
1C19orf55-A325Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1C19orf55-K365Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1C19orf55-G398ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1TGFB1-T263Ihet unknown0.021Dominant
protective
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1RAB3IL1-H323Yhomozygous0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
1B3GNT6-L316ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1B3GNT6-L335ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1TYR-S192Yhet unknown0.271Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.919 (probably damaging), Testable gene in GeneTests with associated GeneReview
1TYR-R402Qhet unknown0.205Complex/Other
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests with associated GeneReview
1TRIM64-I58ThomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-V68LhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-R162ShomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1TRIM64-V238MhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-E242VhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-Q358RhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-Q405RhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1KCNJ11-L270Vhet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CHIT1-A442Ghet unknown0.109Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1CHIT1-G102Shet unknown0.281Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.057 (benign), Testable gene in GeneTests
1PADI6-V343Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1DPYD-S534Nhet unknown0.016Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests
1DPYD-R29Chet unknown0.714Complex/Other
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1AGL-G1115Rhet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 0.998 (probably damaging), 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-P1404Shet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-K925Ehet unknown0.244Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-H865Rhet unknown0.244Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-K858Rhet unknown0.244Unknown
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
1HRNR-L2688Shomozygous0.197Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
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-Q519Phet unknown0.059Unknown
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-Q376Rhomozygous0.950Unknown
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
1KRT4-G160GAGGFGAGFGTGGFGhomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1LIG4-T9Ihet unknown0.130Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.966 (probably damaging)
1LIG4-A3Vhet unknown0.036Dominant
protective
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
1TGIF1-P83Shifthet unknown0.139Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests with associated GeneReview
1INSR-A2GhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
1HSH2D-S223Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ATG9B-A765ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1COMP-N386Dhet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SEBOX-L207Shomozygous0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SEBOX-W10ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1PIK3R6-L609ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1GPHB5-F53Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ABCC6-R1268Qhomozygous0.219Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ABCC6-H632Qhomozygous0.448Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ABCC6-V614Ahomozygous0.458Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SLC12A3-A264Ghomozygous0.973Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1SLC12A3-R913Qhomozygous0.074Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1FANCA-T1328Ahet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.778 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1FANCA-S1088Fhet unknown0.058Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1FANCA-G809Dhet unknown0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1FANCA-P643Ahet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1FANCA-G501Shet unknown0.483Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1FANCA-A412Vhet unknown0.059Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1FANCA-T266Ahet unknown0.508Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.778 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1CYBA-Y72Hhomozygous0.620Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
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)
1ABCA1-K776Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1ABCA1-R219Khomozygous0.393Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1NEFL-S472ShifthomozygousUnknown
benign
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
1BC112980-K147ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1PCDH11Y-V917FhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1PCDH11Y-N1012KhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1DGKK-L1014ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1TCEAL6-Q175Shifthomozygous0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1FAM58A-Q15ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
1PLEKHA2-P389Shifthomozygous0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.75BANK1-R61Hhet unknown0.283Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75BANK1-A383Thomozygous0.295Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.778 (possibly damaging)
0.75BANK1-C650Rhomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75CILP-G1166Shomozygous0.734Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75CILP-Q979Rhomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75CILP-Y915Shet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.75CILP-K575Ehomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75CILP-I395Thet unknown0.632Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75ANKK1-A61Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.75ANKK1-A239Thet unknown0.228Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.852 (probably damaging)
0.75ANKK1-G318Rhet unknown0.369Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.75ANKK1-G442Rhomozygous0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75ANKK1-H490Rhet unknown0.385Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.75ANKK1-E713Khet unknown0.237Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75DYX1C1-E417*het unknown0.201Unknown
pathogenic
Low clinical importance,
uncertain
One study reports this variant to be associated with dyslexia. The study group was relatively small and so the results did not have strong significance. If they are representative this variant is associated with a doubled risk for dyslexia, but it is unclear whether the effect would be additive, dominant, or recessive.
0.75COMT-V158Mhet unknown0.448Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75BLMH-I443Vhet unknown0.285Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75CHRNA5-D398Nhet unknown0.249Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5ADAMTS10-H1101Qhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ADAMTS10-T134Shomozygous0.787Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5CYP2B6-Q172Hhet unknown0.292Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.009 (benign)
0.5CYP2B6-K262Rhet unknown0.043Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5DFNB31-N796Khet unknown0.181Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-V783Ahomozygous0.412Unknown
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-M613Thomozygous0.492Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-A440Thet unknown0.182Unknown
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
0.5MUSK-S159Ghet unknown0.117Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5MUSK-M413Ihet unknown0.096Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview
0.5MICALCL-R66Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MICALCL-V70Ihet unknown0.426Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICALCL-Y93Shet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.907 (probably damaging)
0.5MICALCL-A305Thomozygous0.925Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICALCL-D369Ehet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.813 (possibly damaging)
0.5MICALCL-T471Phet unknown0.403Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.331 (possibly damaging)
0.5SMPD1-G508Rhomozygous0.200Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TSPAN16-S233Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5TSPAN16-S233Chet unknown0.097Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.617 (possibly damaging)
0.5ZNF792-N425Dhet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.968 (probably damaging)
0.5ZNF792-R177Qhet unknown0.599Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BAAT-R20Qhomozygous0.627Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.136 (benign), 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-G428Shomozygous0.845Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-T210Mhomozygous0.580Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, 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-V882Ahomozygous0.609Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.014 (benign), Testable gene in GeneTests with associated GeneReview
0.5MAN2B1-R337Qhomozygous0.373Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.027 (benign), Testable gene in GeneTests with associated GeneReview
0.5MAN2B1-T312Ihomozygous0.458Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.045 (benign), Testable gene in GeneTests with associated GeneReview
0.5MKI67-I2101Thet unknown0.162Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.02 (benign)
0.5MKI67-R832Whet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5MKI67-N104Shet unknown0.611Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.417 (possibly damaging)
0.5ARMS2-R3Hhet unknown0.096Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5USH1C-E819Dhomozygous0.517Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NDUFS7-P23Lhomozygous0.538Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), 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
0.5AXIN2-N412Shet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AXIN2-P50Shomozygous0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PEX16-V116Ihomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC3-R1297Hhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5ROM1-G118Ahomozygous0.938Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests
0.5UBA1-R447Hhomozygous0.124Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABI3-R44Qhet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5ABI3-F209Shomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5COL1A1-T1075Ahomozygous0.971Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
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
0.5TSEN54-K347Nhomozygous0.535Unknown
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
0.5ATP8B1-A1152Thomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
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
0.5KISS1R-L364Hhomozygous0.884Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HSD17B3-G289Shet unknown0.070Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DSG2-V920Ghet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.025 (benign), Testable gene in GeneTests with associated GeneReview
0.5LAMA3-N2815Khomozygous0.152Unknown
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
0.5CDK5RAP2-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
0.5GAA-H199Rhomozygous0.673Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GAA-R223Hhomozygous0.673Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GAA-V780Ihomozygous0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TLR4-C281Yhet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.974 (probably damaging)
0.5NPC1-I858Vhet unknown0.445Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.061 (benign), Testable gene in GeneTests with associated GeneReview
0.5NPC1-M642Ihomozygous0.738Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC2-Y39Fhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCC2-V417Ihet unknown0.192Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5ZNF222-V98Fhet unknown0.541Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF222-G303Dhet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5LRP2-I4210Lhomozygous0.602Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5LRP2-K4094Ehomozygous0.799Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5LRP2-I3413Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5LRP2-N83Shomozygous0.341Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5TTN-E32484Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-R32018Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-R29962Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-I26820Thet unknown0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-I25199Vhet unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-T24045Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-R22371Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
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-V19783Ihet unknown0.223Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-T18827Ihet unknown0.312Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-P17286Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-R16903Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-N16125Dhet unknown0.322Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-K11752Ehet unknown0.080Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-I9278Vhet unknown0.329Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-R8194Qhet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-N7559Shet unknown0.153Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-S7181Nhet unknown0.155Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-A7111Ehet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-E6900Ahet unknown0.150Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-D6352Hhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-D6218Hhet unknown0.157Unknown
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-T1733Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-S1295Lhomozygous0.950Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-K1201Ehet unknown0.731Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-R328Chet unknown0.088Unknown
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
0.5COL3A1-H1353Qhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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
0.5SCN9A-W1150Rhomozygous0.878Dominant
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SCN9A-P610Thet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.5CFC1-W78Rhomozygous0.966Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
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-K2613Nhet unknown0.351Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-V1491Mhomozygous0.660Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-Y1301Hhomozygous0.820Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-K1027Nhomozygous0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SCN1A-A1056Thomozygous0.724Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL5A2-P833Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL5A2-V512Ahet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.445 (possibly damaging), 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
0.5OBSL1-T1737Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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-R723Khet unknown0.827Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-G43Rhet unknown0.353Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-L141Phomozygous0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-E162Ghomozygous0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-D326Yhet unknown0.169Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-P574Lhet unknown0.385Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-P1109Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TG-S734Ahet unknown0.592Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TG-M1028Vhet unknown0.591Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5TG-D1312Ghet unknown0.456Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TG-D1838Nhet unknown0.374Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.061 (benign), Testable gene in GeneTests
0.5TG-R1999Whet unknown0.395Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TG-R2530Qhomozygous0.572Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5KLHL38-C504Yhet unknown0.082Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5KLHL38-R346Khomozygous0.765Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KLHL38-I334Vhomozygous0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5KLHL38-H98Rhomozygous0.795Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.016 (benign)
0.5MYO3A-R319Hhet unknown0.488Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO3A-I348Vhet unknown0.680Unknown
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-A833Shet unknown0.066Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging), 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-R1313Shet unknown0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO3A-T1417Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCA12-S777Thomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCA12-N237Hhet unknown0.162Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.021 (benign), Testable gene in GeneTests with associated GeneReview
0.5PTCHD3-*768Qhet unknown0.630Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTCHD3-I584Mhomozygous0.960Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTCHD3-M521Thet unknown0.631Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTCHD3-D473Ghet unknown0.630Unknown
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
0.5PTCHD3-L152Phet unknown0.267Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.995 (probably damaging)
0.5CTLA4-T17Ahomozygous0.371Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5CPO-M85Ihomozygous0.443Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.196 (benign), Testable gene in GeneTests
0.5CPO-S134Rhomozygous0.493Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CPS1-T344Ahet unknown0.597Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.302 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5CPS1-T1406Nhomozygous0.329Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, 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
0.5PCDH15-S19Ahomozygous0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.013 (benign), Testable gene in GeneTests with associated GeneReview
0.5DENND4C-I5Lhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.956 (probably damaging)
0.5NLRP7-V319Ihomozygous0.298Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5PTPRH-K823Ehomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTPRH-L226Phet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.996 (probably damaging)
0.5ZNF749-T744Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ZNF749-I771Rhet unknown0.639Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5WDR8-I331Mhet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ZFYVE27-V82Ihet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZFYVE27-G138Vhomozygous0.761Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HAP1-F508Lhomozygous0.896Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HAP1-A505Vhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5HAP1-I496Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HAP1-L408Fhomozygous0.329Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.937 (probably damaging)
0.5HAP1-S357Lhomozygous0.716Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.989 (probably damaging)
0.5HAP1-S58Thomozygous0.721Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.738 (possibly damaging)
0.5HAP1-K4Rhet unknown0.391Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.535 (possibly damaging)
0.5BCAT2-Q100Ehet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.28 (possibly damaging), Testable gene in GeneTests
0.5DHDH-S66Nhomozygous0.380Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DHDH-A173Shifthet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5DHDH-V247Ahomozygous0.329Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DHDH-E294Shifthet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5FAM201A-Q115*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5FREM1-Q2143Phomozygous0.753Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
0.5FREM1-D1273Ehet unknown0.056Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5FREM1-A1212Shet unknown0.267Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.5FREM1-S803Yhet unknown0.208Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.785 (possibly damaging)
0.5FREM1-V439Lhet unknown0.563Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.5DOCK8-P97Thomozygous0.465Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests
0.5DOCK8-E237Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DOCK8-Y1340Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ALMS1-R392Chet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-S524SPhet unknown0.578Unknown
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-G1414Ahet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-I1875Vhet unknown0.386Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-I2070Thet unknown0.137Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-S2100Lhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-S2111Rhet unknown0.390Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-R2284Phet unknown0.390Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-R2826Shet unknown0.385Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-N2856Shet unknown0.386Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-R4029Khet unknown0.540Unknown
not reviewed
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
0.5VWA3B-L677Vhet unknown0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWA3B-V885Mhet unknown0.573Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWA3B-D1223Ehet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.903 (probably damaging)
0.5VWA3B-R1245Khomozygous0.968Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MRPS9-S13Lhet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5CDH23-N1349Dhomozygous0.813Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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-T1996Shomozygous0.414Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FSHR-S680Nhomozygous0.556Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FSHR-Y553Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FSHR-A307Thomozygous0.451Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5C2orf71-S1225SShet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5C2orf71-L792Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5C2orf71-T580Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5C2orf71-K421Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ALK-I1461Vhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BMPR1A-P2Thomozygous0.393Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCG8-Y54Chomozygous0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.01 (benign), Testable gene in GeneTests
0.5IGHMBP2-L201Shomozygous0.777Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IGHMBP2-T671Ahet unknown0.246Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IGHMBP2-T879Khet unknown0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRT14-A94Thomozygous0.440Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SIX6-H141Nhomozygous0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview
0.5GSG1-F39Lhet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.984 (probably damaging)
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
0.5SYNE2-L5186Mhet unknown0.580Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5COCH-T352Shomozygous0.509Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCK2-Q121Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5COL4A2-R517Khet unknown0.636Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5COL4A2-P718Shet unknown0.234Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.033 (benign)
0.5COL4A2-E1123Ghet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.919 (probably damaging)
0.5PROZ-R295Hhet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.884 (probably damaging)
0.5PARP2-D235Ghet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.676 (possibly damaging)
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
0.5ZFYVE26-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
0.5MLH3-N826Dhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TRPM1-H1498Qhet unknown0.062Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5TRPM1-E1375*het unknown0.064Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Nonsense mutation, Testable gene in GeneTests
0.5TRPM1-S32Nhomozygous0.794Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TRPM1-M1Thomozygous0.831Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZFYVE19-P11Lhet unknown0.054Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.894 (probably damaging)
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)
0.5GANC-L11Vhomozygous0.979Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GANC-Q44Rhet unknown0.716Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GANC-I166Vhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5GANC-R643Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5GANC-F845Shet unknown0.306Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CDAN1-R1065Qhet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview
0.5CDAN1-R891Chet unknown0.270Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5CDAN1-Q596Rhet unknown0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDAN1-Q107Lhet unknown0.250Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SERPINA1-E400Dhomozygous0.208Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5SERPINA1-R125Hhomozygous0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5CLECL1-S52Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CLECL1-H7Qhet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.944 (probably damaging)
0.5TSHR-E727Dhomozygous0.920Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GALC-T641Ahomozygous0.959Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AX747031-Y95*het unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5SPATA7-D2Nhomozygous0.290Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.665 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5COL4A1-T555Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A1-V7Lhomozygous0.291Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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)
0.5ACADS-R171Whet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.587 (possibly damaging), Testable gene in GeneTests
0.5HNF1A-S574Ghomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HPD-T33Ahomozygous0.902Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5OAS3-R18Khomozygous0.621Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5OAS3-R844*het unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Nonsense mutation
0.5KRT83-H493Yhomozygous0.751Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KIAA0748-R19Hhet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.99 (probably damaging)
0.5ITGA7-R279Hhet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5BEST3-Y43Hhet unknown0.069Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5BBS10-P539Lhet unknown0.054Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.19 (benign), Testable gene in GeneTests with associated GeneReview
0.5SCARB1-G2Shet unknown0.081Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.937 (probably damaging)
0.5GPR133-S523Lhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5VDR-M1Thet unknown0.676Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), 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-I723Vhet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SUCLA2-S199Thomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CYSLTR2-M201Vhet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.942 (probably damaging)
0.5CSNK1A1L-R170Shet unknown0.084Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.9 (probably damaging)
0.5CSNK1A1L-D42Ehomozygous0.514Unknown
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
0.5SGCG-R116Hhet unknown0.103Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests
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
0.5PARP4-I1564Thomozygous0.931Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PARP4-L1550Phomozygous0.929Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PARP4-S1459Yhomozygous0.929Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PARP4-S1394Ahomozygous0.931Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PARP4-R1108Chomozygous0.861Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PARP4-L1080Rhomozygous0.929Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PARP4-M936Thomozygous0.932Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PARP4-A899Thomozygous0.680Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PARP4-I81Vhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5COL2A1-G1405Shet unknown0.069Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL2A1-T9Shet unknown0.791Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GNB3-G272Shet unknown0.053Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.184 (benign)
0.5STRC-Q84Rhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PLCG2-R268Whet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.95 (probably damaging)
0.5KLHDC4-L155Vhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging)
0.5REXO4-T283Ahet unknown0.063Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.957 (probably damaging)
0.5REXO4-R141Khet unknown0.120Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KAL1-V534Ihomozygous0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AGRP-R82Hhet unknown0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5ADAMTS13-R7Whet unknown0.099Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ADAMTS13-P618Ahet unknown0.063Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging), 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
0.5CNGB1-A961Vhet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CNGB1-R100Hhet unknown0.757Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CES3-G231Shet unknown0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5SPG7-T503Ahet unknown0.142Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5SPG7-R688Qhet unknown0.142Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.203 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5TTF1-A290Shet unknown0.089Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYH13-M1071Vhomozygous0.642Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.025 (benign)
0.5MYH13-G701Rhet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.978 (probably damaging)
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-M2988Vhet unknown0.069Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A3-A2960Delhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A3-M2927Thomozygous0.700Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MEN1-T546Ahomozygous0.908Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLFN13-E652Khomozygous0.578Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLFN13-D642Vhet unknown0.109Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.216 (possibly damaging)
0.5SLFN13-P635Thet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
0.5CIZ1-R847Qhet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5CIZ1-V638Mhet unknown0.097Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CIZ1-QQL28LQQhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5DMD-R2937Qhomozygous0.957Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, 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
0.5CTNS-T260Ihomozygous0.828Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CTNS-P380Ahet unknown0.190Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYBBP1A-R570Hhet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5MYO7A-L16Shomozygous0.470Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CHRNB1-E32Ghomozygous0.250Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.288 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5TMEM123-V86Fhet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.275 (possibly damaging)
0.5TMEM123-V71Mhet unknown0.073Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.076 (benign)
0.5SALL1-V1275Ihomozygous0.988Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NR2E3-T318Shifthomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift, Testable gene in GeneTests
0.5HEXA-I436Vhomozygous0.867Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BBS4-I354Thomozygous0.529Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ADAMTSL3-H146Rhomozygous0.564Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.04 (benign)
0.5ADAMTSL3-L290Vhomozygous0.849Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ADAMTSL3-V661Lhomozygous0.620Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ADAMTSL3-T1660Ihet unknown0.192Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5FBN1-C472Yhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
0.5ELL3-W140Rhet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.983 (probably damaging)
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
0.5DUOX2-S1067Lhomozygous0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DUOX2-P138Lhomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LRTM2-D161Nhet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.853 (probably damaging)
0.5SLC28A1-L140LVhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SLC28A1-V189Ihet unknown0.303Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC28A1-Q237Khet unknown0.204Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC28A1-D521Nhomozygous0.360Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
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
0.5GTF3C1-R1630Hhet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5DYNC2H1-K1413Rhet unknown0.679Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.063 (benign), Testable gene in GeneTests
0.5DYNC2H1-N1576Khet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DYNC2H1-R2871Qhomozygous0.756Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CD19-L174Vhomozygous0.768Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NOD2-P268Shomozygous0.197Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DBH-A211Thet unknown0.089Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATM-S1691Rhet unknownUnknown
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
0.5ABCA3-R288Khet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5OR2C1-C149Whomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5OR2C1-F273Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5AK311524-V28Ahomozygous0.903Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AK311524-W181Shifthet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5SLX4-S1271Fhet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.679 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5KIAA1462-S1002Thet unknown0.327Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.474 (possibly damaging)
0.5KIAA1462-R957Ghet unknown0.407Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.109 (benign)
0.5KIAA1462-E24Khet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging)
0.5TTC24-Q102Shifthet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PTPN22-W620Rhomozygous0.934Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTPN22-R263Qhomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NR_027127-W61*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5SRA1-V110RLhomozygous0.360Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC22A4-I306Thomozygous0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5SLC22A4-L503Fhomozygous0.304Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FBN2-M2311Vhet unknown0.101Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FBN2-V965Ihomozygous0.665Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VANGL1-A116Thomozygous0.124Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.5APC-V1822Dhomozygous0.826Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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)
0.5HSD17B4-R106Hhomozygous0.362Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.547 (possibly damaging), Testable gene in GeneTests
0.5HSD17B4-I559Vhomozygous0.404Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.111 (benign), Testable gene in GeneTests
0.5PCDHB7-V389Lhet unknown0.606Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PCDHB7-S568Ghet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5PCDHB7-PL575LVhet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PCDHB7-R716Whet unknown0.115Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.963 (probably damaging)
0.5GSTM1-S210Thomozygous0.589Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5XIAP-Q423Phomozygous0.401Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.053 (benign), Testable gene in GeneTests with associated GeneReview
0.5GABRG2-I215Vhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MSX2-M129Thomozygous0.753Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZNF679-E69Ghet unknown0.267Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.992 (probably damaging)
0.5ZNF679-C245Rhet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.852 (probably damaging)
0.5DBT-S384Ghomozygous0.858Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL11A1-S1547Phomozygous0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL11A1-D46Ehet unknown0.100Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
0.5PDE6A-Q492Hhet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC26A2-I574Thomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ERAP2-K392Nhet unknown0.542Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ERAP2-N501Shifthet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5GPR98-E5344Ghomozygous0.937Unknown
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
0.5ATP7A-E1350Khomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AGA-T149Shomozygous0.923Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5BNIPL-T3Ahet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.866 (probably damaging)
0.5FLG-Y3105Dhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5FLG-Q1914Rhet unknown0.068Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CLCNKB-R27Lhomozygous0.523Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKB-A214Ghomozygous0.638Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKB-A287Vhomozygous0.811Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKB-M562Thomozygous0.889Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKB-K578Ehomozygous0.704Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRSS12-R833Qhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.982 (probably damaging)
0.5AKAP9-M463Ihet unknown0.442Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AKAP9-K1335KQhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AKAP9-N2792Shet unknown0.357Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AKAP9-P2979Shomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5RHBG-V143Dhet unknown0.208Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RHBG-G315Rhomozygous0.458Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RHBG-P424Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5RHBG-H428Rhomozygous0.637Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HSPG2-S4331Nhet unknown0.147Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSPG2-H3256Yhet unknown0.125Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSPG2-R2977Whet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSPG2-A1503Vhomozygous0.694Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSPG2-N765Shomozygous0.933Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSPG2-M638Vhomozygous0.974Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
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-T4220Ahet unknown0.061Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.959 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-T3791Ihet unknown0.092Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-I766Lhet unknown0.518Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.026 (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-H12Qhomozygous0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NUDT17-C300Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NUDT17-C300Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5VCAN-V543Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VCAN-K1516Rhomozygous0.499Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VCAN-R1826Hhet unknown0.383Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5VCAN-F2301Yhomozygous0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VCAN-D2937Yhet unknown0.388Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.11 (benign), 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-P1559Shomozygous0.743Unknown
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-F253Shomozygous0.703Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EIF4G3-P496Ahet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.97 (probably damaging)
0.5ARSB-S384Nhet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.171 (benign), Testable gene in GeneTests
0.5ARSB-V376Mhet unknown0.136Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), 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
0.5WBSCR28-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)
0.5GHR-I544Lhomozygous0.435Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests
0.5ZNF366-A739Ghet unknown0.091Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.024 (benign)
0.5ZNF366-V269Fhet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.926 (probably damaging)
0.5HEXB-L62Shomozygous0.968Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HEXB-K121Rhet unknown0.199Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SYDE2-V1157Ihomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SYDE2-V569Ihomozygous0.984Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SYDE2-S422Lhet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.928 (probably damaging)
0.5PROP1-A142Thet unknown0.239Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PROP1-N20Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
0.5COL9A1-Q621Rhomozygous0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RIMS1-P370Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5RIMS1-I1207Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5COL9A2-V581Ihet unknown0.067Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.037 (benign), Testable gene in GeneTests with associated GeneReview
0.5COL9A2-L335Vhet unknown0.098Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL9A2-Q326Rhet unknown0.281Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5EFHC1-R159Whet unknown0.100Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.057 (benign), Testable gene in GeneTests
0.5PRPH2-D338Ghomozygous0.774Unknown
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-Q304Ehomozygous0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUL7-Q813Rhomozygous0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MUT-I671Vhomozygous0.608Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MUT-R532Hhomozygous0.313Unknown
not reviewed
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-A1262Vhet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-R760Chet unknown0.386Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LCA5-L24Shomozygous0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5MDN1-N5251Khet unknown0.098Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MDN1-I4720Thet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.017 (benign)
0.5MDN1-R4266Ghet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5MDN1-A4044Shet unknown0.526Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.035 (benign)
0.5MDN1-H3423Yhet unknown0.513Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.986 (probably damaging)
0.5MDN1-S1559Nhomozygous0.820Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SOD2-V16Ahomozygous0.476Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC22A2-S270Ahomozygous0.881Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LPA-M1679Thet unknown0.744Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LPA-R1421Qhet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5LPA-L1372Vhomozygous0.407Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LPA-L1358Vhomozygous0.403Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FNDC1-P122Shet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.958 (probably damaging)
0.5FNDC1-T438Ahet unknown0.352Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FNDC1-E463Qhet unknown0.856Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.25 (possibly damaging)
0.5FNDC1-Q1003Ehet unknown0.854Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.25 (possibly damaging)
0.5FNDC1-D1180Ehet unknown0.856Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.47 (possibly damaging)
0.5FNDC1-L1261Phet unknown0.852Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.38 (possibly damaging)
0.5FNDC1-Q1280Rhet unknown0.853Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.25 (possibly damaging)
0.5FNDC1-T1504Khet unknown0.872Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SYNE1-F7302Vhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-A5933Thet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
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-A2795Vhomozygous0.195Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5SYNE1-V1035Ahomozygous0.534Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.673 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5AIM1-Q293Phet unknown0.243Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AIM1-C491Rhet unknown0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.091 (benign)
0.5AIM1-E1196Ahomozygous0.930Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.015 (benign)
0.5AIM1-C1395Yhet unknown0.254Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.958 (probably damaging)
0.5GRHL3-T454Mhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5FUCA1-P10Rhet unknown0.067Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.894 (probably damaging), Testable gene in GeneTests
0.5FUCA1-R2Whet unknown0.081Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.928 (probably damaging), Testable gene in GeneTests
0.5LAMA2-R619Hhet unknown0.272Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LAMA2-R1844Shet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LAMA2-A2585Vhomozygous0.637Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KIF6-W719Rhomozygous0.507Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.01 (benign)
0.5POMGNT1-M623Vhomozygous0.940Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DDC-M17Vhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NKX3-1-R52Chet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.788 (possibly damaging)
0.5TXNDC3-C208Rhomozygous0.787Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5EFCAB7-V324Ihet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.956 (probably damaging)
0.5TUBB2B-C201Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.379 (possibly damaging), Testable gene in GeneTests
0.5GRM6-A807Vhet unknown0.072Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.418 (possibly damaging), Testable gene in GeneTests
0.5EGFR-R521Khet unknown0.203Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5BC040901-C89Whet unknown0.706Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BC040901-P93Shet unknown0.548Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BC040901-A106Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NQO2-L47Fhomozygous0.845Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NQO2-G58Dhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5F9-T194Ahomozygous0.233Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5GARS-P42Ahomozygous0.744Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-L8Mhet unknown0.498Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-A11Thet unknown0.067Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-AWRWPEFSKFGG68VWRWPLFRRFRRhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-G84Fhet unknown0.122Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-R87Thet unknown0.259Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-M89Ihet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-A92Lhet unknown0.151Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-IM98SLhet unknown0.066Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-Y103Shet unknown0.211Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-T130Ihet unknown0.242Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-Q152Hhet unknown0.407Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL11A2-E276Khomozygous0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.651 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5COL11A2-R118Phet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TULP1-K261Nhomozygous0.844Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TULP1-T67Rhomozygous0.905Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PMS2-K541Ehomozygous0.874Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-E34Lhet unknown0.368Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-V1023Ahet unknown0.350Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
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-N2641Shet unknown0.529Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-A3474Thet unknown0.350Unknown
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-M4172Vhet unknown0.718Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-T4177Ihet unknown0.362Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HOXA1-R73Hhomozygous0.728Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5BTN2A2-G203Shet unknown0.059Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.017 (benign)
0.5BTN2A2-A336Thet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.868 (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
0.5MICA-A47Thet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5MICA-Y59Chet unknown0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-V152Mhet unknown0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-E196Khet unknown0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-S229Ghet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-R233Whet unknown0.259Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MICA-I236Thet unknown0.466Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-T238Shet unknown0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-R274Qhet unknown0.478Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-G318Shifthet unknown0.163Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.5CLGN-P270Shet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.989 (probably damaging)
0.5LAMC2-S733Thet unknown0.163Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.935 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5MTHFR-A222Vhet unknown0.272Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.858 (probably damaging), Testable gene in GeneTests
0.5DNAJB7-E41Ahet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.957 (probably damaging)
0.5ASPM-L3132Rhet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ASPM-L2647Ihomozygous0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ASPM-N2600Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ASPM-S2562Ghomozygous0.317Unknown
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-L1800Shet unknown0.272Unknown
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
0.5C1QTNF6-R226Hhet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5C1QTNF6-P138Lhet unknown0.087Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
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-E224Ghomozygous0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SEC14L4-R122Whet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5ISX-S28Ghet unknown0.731Unknown
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-P57Shet unknown0.489Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.5CFHR1-H157Yhomozygous0.305Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CFHR1-L159Vhomozygous0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CFHR1-E175Qhomozygous0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ASAH1-V246Ahomozygous0.867Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ASAH1-D124Ehet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ASAH1-I93Vhet unknown0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ASAH1-V72Mhet unknown0.424Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ATP6V0A4-V2Ahomozygous0.735Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NR_002144-DDDFE68Delhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NR_002144-SE75Phet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NR_002144-L77Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NR_002144-Q280Rhomozygous0.858Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NR_002144-Y307Hhomozygous0.858Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NR_002144-L312Rhomozygous0.856Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5IQCF1-R143Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5IQCF1-R114Qhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5IQCF1-K57Ehet unknown0.161Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5CLCN1-G118Whomozygous0.983Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CLCN1-P727Lhet unknown0.424Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
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
0.5CFH-H402Yhomozygous0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CFH-E936Dhet unknown0.139Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.504 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5PEX2-C184Rhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5XPC-Q939Khet unknown0.643Unknown
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
0.5HACL1-I151Fhet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.967 (probably damaging)
0.5KIAA1671-K439Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.872 (probably damaging)
0.5ARHGEF10-V700Ihet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ARHGEF10-H1197Yhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5RYR2-S1400Ghet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.012 (benign), 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
0.5SALL4-L507Rhet unknown0.281Dominant
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.125 (benign), Testable gene in GeneTests with associated GeneReview
0.5E2F1-G200Shet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5PITRM1-F618Lhet unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5OPTN-K322Ehomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PKHD1L1-I164Vhet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.531 (possibly damaging)
0.5PKHD1L1-Y440Hhomozygous0.275Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.995 (probably damaging)
0.5PKHD1L1-H923Rhomozygous0.597Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PKHD1L1-R1514Shomozygous0.540Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PKHD1L1-V1965Lhomozygous0.592Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5PKHD1L1-H3050Qhet unknown0.357Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PKHD1L1-V3080Ihet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.399 (possibly damaging)
0.5PKHD1L1-I3411Vhet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging)
0.5PKHD1L1-L3862Fhet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PKHD1L1-V4220Ihet unknown0.207Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.007 (benign)
0.5TM7SF4-L397Fhet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.953 (probably damaging)
0.5PCK1-T178Mhet 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-E276Khet unknown0.146Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5OBSCN-Q502Rhet unknown0.628Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.98 (probably damaging)
0.5OBSCN-A908Thet unknown0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.008 (benign)
0.5OBSCN-V1508Dhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
0.5OBSCN-D2106Ehomozygous0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.04 (benign)
0.5OBSCN-F2116Lhomozygous0.707Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.182 (benign)
0.5OBSCN-A2125Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
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-R2823Lhet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.988 (probably damaging)
0.5OBSCN-ES3372DChet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5OBSCN-G4039Rhet unknown0.363Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.932 (probably damaging)
0.5OBSCN-H4381Rhomozygous0.752Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.99 (probably damaging)
0.5OBSCN-C4450Rhomozygous0.745Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.907 (probably damaging)
0.5OBSCN-R4516Whet unknown0.374Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.65 (possibly damaging)
0.5OBSCN-R4534Hhet unknown0.256Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.515 (possibly damaging)
0.5OBSCN-S4642Chomozygous0.747Unknown
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-D4962Ghomozygous0.740Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.467 (possibly damaging)
0.5OBSCN-L5269Vhet unknown0.393Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.032 (benign)
0.5OBSCN-Q5891Ehomozygous0.548Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.027 (benign)
0.5OBSCN-P6271Shet unknown0.083Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.402 (possibly damaging)
0.5OBSCN-R6805Whet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.65 (possibly damaging)
0.5OBSCN-R7724Hhet unknown0.086Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.515 (possibly damaging)
0.5AX747124-C51Shifthet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5AX747124-R83Chet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CNGB3-T298Phomozygous0.643Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.007 (benign), Testable gene in GeneTests with associated GeneReview
0.5CNGB3-C234Whomozygous0.880Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CNGB3-N27Shet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NR_027052-Q90*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5MCPH1-R171Shomozygous0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-D314Hhomozygous0.681Unknown
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-A761Vhomozygous0.408Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-P828Shomozygous0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC26A7-V455Mhet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.875 (probably damaging)
0.5CBS-RC51LShet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CBS-D47Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, 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
0.5LBR-S154Nhomozygous0.704Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
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-R1486Khet unknown0.607Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.063 (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
0.5KCNH2-K897Thet unknown0.169Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5MYOC-R76Khet unknown0.096Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests
0.5UGT2B7-Y268Hhomozygous0.207Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5EPHA5-N81Thet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.978 (probably damaging)
0.5COL1A2-P549Ahomozygous0.798Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5UGT2B11-P358Shet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5SLC16A2-S107Phomozygous0.462Unknown
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
0.5EIF2B5-I587Vhomozygous0.328Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5NAT2-R197Qhomozygous0.282Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NAT2-R268Khomozygous0.581Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CPN2-V536Mhomozygous0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.935 (probably damaging), Testable gene in GeneTests
0.5CPN2-Q509Rhomozygous0.827Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ESCO2-A80Vhet unknown0.099Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CLNK-P31Lhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5TLR10-I369Lhet unknown0.406Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5TLR10-M326Thet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.978 (probably damaging)
0.5TLR10-V298Ihet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.02 (benign)
0.5TLR10-N241Hhet unknown0.406Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.84 (possibly damaging)
0.5TLR10-A163Shet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5WFS1-V333Ihomozygous0.800Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WFS1-R611Hhet unknown0.400Recessive
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5EVC-Y258Hhet unknown0.706Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests
0.5EVC-T372Mhet unknown0.065Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests
0.5EVC-T449Khomozygous0.852Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HTT-T1720Nhet unknown0.205Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HTT-Y2309Hhomozygous0.466Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HTT-V2786Ihet unknown0.216Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DOK7-R38Ghet unknown0.161Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DOK7-R38Ghet unknown0.161Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KIT-M541Lhet unknown0.096Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.017 (benign), Testable gene in GeneTests
0.5HTR3E-E22Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5HTR3E-A86Thet unknown0.684Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ADRB3-W64Rhet unknown0.085Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MANBA-T701Mhomozygous0.552Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MANBA-V253Ihet unknown0.383Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5CP-T551Ihet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.915 (probably damaging)
0.5CP-E544Dhomozygous0.851Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5DRD3-G9Shomozygous0.533Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SLC9A10-V1058Ahet unknown0.054Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.021 (benign)
0.5SLC9A10-M844Vhet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5SLC9A10-G826Shet unknown0.300Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.023 (benign)
0.5SLC9A10-S768Ihet unknown0.302Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.735 (possibly damaging)
0.5SLC9A10-Q732Khomozygous0.736Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.99 (probably damaging)
0.5SLC9A10-T705Ihomozygous0.737Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
0.5SLC9A10-T424Ahet unknown0.292Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.239 (possibly damaging)
0.5SLC9A10-I364Vhet unknown0.577Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC9A10-I348Mhet unknown0.577Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC9A10-I286Vhet unknown0.293Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC9A10-I158Vhet unknown0.287Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5GBE1-I334Vhomozygous0.980Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RETNLB-P20Lhet unknown0.239Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.987 (probably damaging)
0.5RETNLB-L14Shifthet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ADH1B-H48Rhomozygous0.963Unknown
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
0.5ACAD9-A326Thet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.975 (probably damaging), Testable gene in GeneTests
0.5TF-G277Shet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5TF-I448Vhomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CASR-A986Shet unknown0.109Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5CASR-E1011Qhomozygous0.916Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HGD-Q80Hhomozygous0.745Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLNC-R1567Qhet unknown0.066Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.676 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5FCGR3A-N268Yhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5FCGR3A-S101Nhet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5SERPINE1-A15Thet unknown0.084Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.375PTF1A-D94Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375PTF1A-S263Phet unknown0.507Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.981 (probably damaging), Testable gene in GeneTests
0.375ATXN3-G306QQQQQQQQQQRhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375ATXN3-G306QQQQQQQQQQRhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375ATXN3-V212Mhet unknown0.276Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375FECH-R102Qhet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375FECH-P62Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375HLA-DQB1-L58Yhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375HLA-DQB1-G45Ahet unknown0.174Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375HLA-DQB1-F41Yhet unknown0.782Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375HLA-DQB1-V15Ahet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375HLA-DQB1-D12Ghet unknown0.400Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375BAG3-C151Rhet unknown0.149Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375BAG3-A155Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375MYH11-Y1415Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375MYH11-A1241Thet unknown0.207Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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-P502Lhet unknown0.301Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.375LRRC50-T544TKEThet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, 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-L659Vhet unknown0.157Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), 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
0.375FLNB-D1157Nhet unknown0.303Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.375FLNB-V1471Mhet unknown0.363Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.02 (benign), Testable gene in GeneTests with associated GeneReview
0.375FLNB-V2454Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375FANCD2-N405Shet unknown0.231Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.015 (benign), Testable gene in GeneTests with associated GeneReview
0.375FANCD2-K871Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375GLI2-K30Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375GLI2-A1156Shet unknown0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375GLI2-D1306Nhet unknown0.678Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375BRCA1-M1673Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375BRCA1-S1634Ghet unknown0.298Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375BRCA1-K1183Rhet unknown0.295Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375BRCA1-E1038Ghet unknown0.278Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.462 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.375BRCA1-P871Lhet unknown0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GYS2-M363Vhet unknown0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
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
0.25CELA1-L210Shifthet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.25CELA1-M59Vhet unknown0.241Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.24 (possibly damaging)
0.25CELA1-Y5Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CELA1-V3Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25PINK1-N521Thet unknown0.269Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ALPL-Y263Hhet unknown0.163Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PFKM-R100Qhet unknown0.171Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.01 (benign), Testable gene in GeneTests
0.25KRT6B-I365Vhet unknown0.301Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25POLA2-G583Rhet unknown0.154Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.024 (benign)
0.25STIL-H985Rhet unknown0.279Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.648 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25STIL-A86Vhet unknown0.595Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NCF2-K181Rhet unknown0.433Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PDE6C-S270Thet unknown0.391Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PLCE1-R548Lhet unknown0.170Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests
0.25PLCE1-R1575Phet unknown0.476Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PLCE1-T1777Ihet unknown0.321Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PLCE1-H1927Rhet unknown0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.25LHX4-N328Shet unknown0.406Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CALHM1-L86Phet unknown0.798Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SCD-M224Lhet unknown0.404Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PRG4-R180Whet unknown0.299Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably 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-K840KEPAPTTPKhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25LIPA-T16Phet unknown0.241Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.25EPHX1-H139Rhet unknown0.248Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25AGT-M268Thet unknown0.561Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LAMB3-M852Lhet unknown0.120Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.526 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25TMEM81-F100Shet unknown0.103Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.986 (probably damaging)
0.25TMEM81-R77Qhomozygous0.772Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25ANXA11-R230Chet unknown0.341Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.25SLC29A3-S158Fhet unknown0.618Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SLC29A3-V239Ihet unknown0.864Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SLC29A3-I326Vhet unknown0.893Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ERCC6-R1230Phet unknown0.070Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.891 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25ERCC6-G399Dhet unknown0.161Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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-A674Vhet unknown0.275Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
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-V208Ahet unknown0.869Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FMO2-D36Ghet unknown0.066Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FMO2-S195Lhet unknown0.384Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FAM55B-V103Ahet unknown0.125Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.871 (probably damaging)
0.25ALG6-S306Fhet unknown0.738Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HYLS1-C31Rhet unknown0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests
0.25LRP8-R952Qhet unknown0.290Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LRP8-D46Ehet unknown0.523Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CPT2-V368Ihet unknown0.456Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SNX19-L878Rhet unknown0.809Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SNX19-N753Shet unknown0.633Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SNX19-L618Fhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SNX19-V361Lhet unknown0.712Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ACAT1-A5Phet unknown0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.137 (benign), Testable gene in GeneTests
0.25LEPR-K109Rhet unknown0.231Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.026 (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
0.25RAG1-H249Rhet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25H19-G355Rhet unknown0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25H19-V94Ihet unknown0.361Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25H19-W38Rhet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GBA-K144Rhet unknown0.619Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GBA-R140Whet unknown0.357Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SERPING1-V480Mhet unknown0.220Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests
0.25MTMR2-K3Thet unknown0.240Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CTSW-L10Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CTSW-S139Ghomozygous0.930Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NOTCH2-P227Hhet unknown0.000Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.93 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25NOTCH2-P210Lhet unknown0.333Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NOTCH2-C19Whet unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HMHA1-L138Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25HMHA1-E259Dhet unknown0.805Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.02 (benign)
0.25HMHA1-T1124Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PLEC-S2791Phet unknown0.567Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PNPLA3-I148Mhet unknown0.196Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.778 (possibly damaging)
0.25PNPLA3-K434Ehomozygous0.683Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SCO2-R20Phet unknown0.629Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EP300-I997Vhet unknown0.207Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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-N863Khet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (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
0.25NBN-E185Qhet unknown0.285Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MYH9-I1626Vhet unknown0.153Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25AK123744-Q129*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25AK123744-R200Hhet unknown0.246Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RP1-N985Yhet unknown0.349Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.958 (probably damaging), Testable gene in GeneTests
0.25RP1-C2033Yhet unknown0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests
0.25ANK2-V2369Ahet unknown0.143Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25BBS12-R386Qhet unknown0.416Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview
0.25BBS12-D467Nhet unknown0.171Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ANTXR2-A357Phet unknown0.708Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ANTXR2-A357Phet unknown0.708Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25TLR6-S249Phet unknown0.695Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MCCC1-H464Phet unknown0.584Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CLDN16-R55Shifthet unknown0.172Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift, 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-P2274Lhet unknown0.227Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.012 (benign), Testable gene in GeneTests
0.25PCNT-A2551Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, 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
0.25PCNT-R3245Shet unknown0.168Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.657 (possibly damaging), Testable gene in GeneTests
0.25COL6A1-R850Hhet unknown0.341Unknown
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-E104QhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C2orf83-S45Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SLC30A8-R325Whet unknown0.227Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ATIC-T116Shet unknown0.248Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25ALS2-V368Mhet unknown0.859Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25RAB3GAP1-N598Shet unknown0.115Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25KRT1-K633Rhet unknown0.220Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25KRT1-S557Ghet unknown0.223Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PANK2-G126Ahet unknown0.940Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25THBD-A473Vhet unknown0.140Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CBR3-V244Mhet unknown0.400Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.014 (benign)
0.25SLC19A1-H27Rhet unknown0.504Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.25KCNE1-S38Ghet unknown0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), 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
0.25GDF5-S276Ahet unknown0.359Unknown
not reviewed
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
0.25NR3C2-V180Ihet unknown0.899Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FGB-R478Khet unknown0.155Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25LMBRD1-D469Ehet unknown0.313Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), 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
0.25EYS-R2326Qhomozygous0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-N1902Ihet unknown0.272Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-L1419Shomozygous0.759Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-L852Phet unknown0.642Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-G631Shomozygous0.517Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-T120Mhet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PNPLA1-Y488*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25PNPLA1-T490Mhomozygous0.297Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PNPLA1-S522Phomozygous0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25HSPA1L-E602Khet unknown0.237Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25HSPA1L-T493Mhet unknown0.873Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25TNXB-N4055Ihet unknown0.220Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TNXB-G2518Ehet unknown0.685Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TNXB-H1161Rhet unknown0.477Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL10A1-D128Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25COL10A1-M27Thomozygous0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25RSPH4A-R556Hhet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25RSPH4A-L589Phet unknown0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, 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
0.25ELN-G581Rhet unknown0.073Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ABCB1-S893Ahet unknown0.683Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GUSB-L649Phet unknown0.485Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25GUSB-T232Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, 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-C189Yhet unknown0.480Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ERV3-T87Ihomozygous0.916Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PLG-S460Rhet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.011 (benign)
0.25PLG-D472Nhet unknown0.261Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PARK2-V380Lhet unknown0.178Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ALDH5A1-H180Yhet unknown0.374Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SFTPC-T138Nhet unknown0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SFTPC-S186Nhet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25WDR36-I264Vhet unknown0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25IL13-Q144Rhet unknown0.811Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ITGA2-E534Khet unknown0.127Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25AMACR-E277Khet unknown0.756Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25AMACR-L201Shet unknown0.748Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25AMACR-G175Dhet unknown0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25AMACR-V9Mhet unknown0.415Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FGA-T331Ahet unknown0.289Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.306 (possibly damaging), Testable gene in GeneTests
0.25CHRNA2-T125Ahet unknown0.580Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PCDHB10-T213Rhet unknown0.124Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.885 (probably damaging)
0.25PCDHB10-R543Shet unknown0.441Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PCDHB10-R639Shet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.502 (possibly damaging)
0.25SPINK5-Q267Rhet unknown0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SPINK5-A335Vhet unknown0.440Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SPINK5-S368Nhet unknown0.428Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SPINK5-K420Ehet unknown0.433Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SPINK5-R711Qhet unknown0.545Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25F13A1-E652Qhet unknown0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25F13A1-V35Lhet unknown0.227Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25DSP-Y1512Chet unknown0.120Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.793 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25C5orf45-Q231RhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C5orf45-R154GhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C5orf45-Q42RhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C5orf45-Q38*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25FGFR4-P136Lhomozygous0.722Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FGFR4-G388Rhet unknown0.241Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.481 (possibly damaging)
0.25TCOF1-V887Ahet unknown0.192Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TCOF1-A1353Vhet unknown0.214Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GM2A-I59Vhet unknown0.606Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25GM2A-M69Vhet unknown0.722Unknown
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
0.25CASP8-K14Rhet unknown0.671Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25RABEPK-H73Yhet unknown0.141Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.607 (possibly damaging)
0.25RABEPK-P135Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SH2B1-T484Ahet unknown0.343Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TNRC6A-Q110Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25TNRC6A-P115Qhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25TNRC6A-N185Khet unknown0.183Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.063 (benign)
0.25TNRC6A-A592Thet unknown0.188Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.25TNRC6A-P788Shet unknown0.182Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.25ABAT-Q56Rhet unknown0.514Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PDIA2-Q195*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25PDIA2-G352Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25GLYR1-H459Qhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GLYR1-R381Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25BBS2-I123Vhet unknown0.196Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BBS2-S70Nhomozygous0.994Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CETP-V422Ihet unknown0.589Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25COX10-R159Qhet unknown0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MYO15A-C1977Rhomozygous0.805Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MYO15A-Y2682Fhet unknown0.344Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SETX-I2587Vhet unknown0.450Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SETX-T1855Ahet unknown0.310Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SETX-I1386Vhet unknown0.691Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SETX-G1252Rhet unknown0.690Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SETX-D1192Ehet unknown0.790Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25AIPL1-D90Hhet unknown0.165Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.029 (benign), Testable gene in GeneTests with associated GeneReview
0.25GPR56-S281Rhet unknown0.609Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GPR56-Q306Hhet unknown0.207Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DHODH-K7Qhet unknown0.542Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.25LOXL1-G153Dhet unknown0.221Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.135 (benign)
0.25GATM-Q110Hhet unknown0.443Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PABPC3-Q172Rhet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PABPC3-R287Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PABPC3-Q292*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25PABPC3-V293Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25FREM2-S745Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
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
0.25CENPJ-S879Ahet unknown0.106Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.25CENPJ-P85Thet unknown0.106Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.021 (benign), Testable gene in GeneTests with associated GeneReview
0.25MVK-S52Nhet unknown0.119Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EXD3-Q27Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25EXD3-R20Qhet unknown0.653Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MMAB-M239Khet unknown0.598Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MMAB-R19Qhet unknown0.283Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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)
0.25ATP7B-V1140Ahet unknown0.585Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ATP7B-R952Khet unknown0.575Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ATP7B-K832Rhet unknown0.555Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.461 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25ATP7B-V456Lhet unknown0.405Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.25ATP7B-S406Ahet unknown0.401Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25SPG11-F463Shet unknown0.480Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SLC28A2-P22Lhet unknown0.474Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLC28A2-S75Rhet unknown0.497Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TTBK2-L8Phet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25C14orf184-E123Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25C14orf184-R55Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25RXRA-H338Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25RXRA-G341Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SARDH-M648Vhomozygous0.519Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SARDH-R614Hhet unknown0.327Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.057 (benign), Testable gene in GeneTests
0.25LRRC48-R191Whet unknown0.349Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LRRC48-N438Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CEBPZ-K1051Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CEBPZ-V102Ihet unknown0.881Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLC7A9-L223Mhet unknown0.327Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests
0.25SLC7A9-V142Ahet unknown0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25IL12RB1-G378Rhet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25IL12RB1-M365Thet unknown0.289Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25IL12RB1-Q214Rhet unknown0.251Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25IL12RB1-R156Hhet unknown0.125Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.029 (benign), Testable gene in GeneTests
0.25JUP-M697Lhet unknown0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NOTCH3-A2223Vhet unknown0.730Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25IKBKAP-P1158Lhet unknown0.214Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25IKBKAP-C1072Shet unknown0.215Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NPHS1-E117Khet unknown0.227Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests
0.25ZNF224-M118Vhet unknown0.872Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ZNF224-H162Lhet unknown0.879Unknown
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
0.25TPO-A257Shet unknown0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TPO-A373Shet unknown0.404Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25TPO-S398Thet unknown0.785Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.988 (probably damaging), Testable gene in GeneTests
0.25TPO-T725Phet unknown0.470Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25OTOF-R82Chet unknown0.365Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.25BRSK1-G749Shet unknown0.073Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25BRSK1-K765Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25FPR1-E346Ahet unknown0.799Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FPR1-N192Khet unknown0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FPR1-I11Thet unknown0.773Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ROR2-T245Ahet unknown0.678Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SIX5-L556Vhet unknown0.871Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LHCGR-N312Shet unknown0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ICAM1-K469Ehet unknown0.349Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25COG1-N392Shet unknown0.530Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25RNF43-L418Mhomozygous0.371Unknown
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-I47Vhomozygous0.325Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25MERTK-S118Nhet unknown0.223Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MERTK-R466Khet unknown0.635Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MERTK-I518Vhet unknown0.635Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ITGA2B-I874Shet unknown0.380Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MAPT-P202Lhet unknown0.165Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25MAPT-D285Nhet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.014 (benign), Testable gene in GeneTests with associated GeneReview
0.25MAPT-V289Ahet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MAPT-R370Whet unknown0.156Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25MAPT-S447Phet unknown0.166Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ACOX1-I312Mhet unknown0.505Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
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
0.25GGCX-R325Qhet unknown0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.25STXBP2-I526Vhet unknown0.675Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25REXO1-S886Ghet unknown0.315Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.03 (benign)
0.25REXO1-S759Phomozygous0.761Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25REXO1-E642Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25REXO1-V408Ahet unknown0.176Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GATA4-S377Ghet unknown0.101Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ATP6V1B1-T30Ihet unknown0.159Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CD226-S307Ghet unknown0.451Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0SHH-L272Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0ACAD8-S171Chet unknown0.018Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests
0MEFV-R202Qhet unknown0.178Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.019 (benign), Testable gene in GeneTests with associated GeneReview
0MBL2-G54Dhet unknown0.104Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests
0LRP5-R1534*het unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Nonsense mutation, Testable gene in GeneTests with associated GeneReview
0RFT1-G74Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0CCR5-S185Shifthet unknown0.048Recessive
protective
Insufficiently evaluatedPrioritization score: 2
Frameshift

Input file format: CGIVAR

Genome build: b37

Genome coverage: 2,774,926,109 bases (97.1% of callable positions, 90.1% of total positions)

Coding region coverage: 32,122,263 bases (96.5% of all genes, 97.2% 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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