hu45AE46 - GET-Evidence variant report

Variant report for hu45AE46

Log file: 




VariantClinical
Importance
ImpactAllele
freq
Summary
1CCDC40-A83ShiftHighWell-establishedWell-established pathogenic

Recessive, Carrier (Heterozygous)
Causes primary ciliary dyskinesia in a recessive manner. Becker-Heck et al. report seeing this homozygously twice and heterozygously four times in patients from 24 families. Antony et al. report this variant accounts for 69% of disease mutations found in patients of North European ancestry.1
2PPARG-P12AModerateUncertainUncertain not reviewed

Unknown, Heterozygous
0.08867821
3SIAE-M89VModerateUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.0400632This variant was reported to be associated with autoimmune disease when homozygous. However, a later publication has contradicted this result, finding no significant association between this variant and autoimmune disease in a very large cohort.1
4COL4A1-Q1334HLowLikelyLikely pathogenic

Dominant, Heterozygous
0.324689This common variant has been associated with arterial stiffness and, in Japanese, a small increased risk of myocardial infarction (MI, a.k.a. heart attack). This last observation supported a dominant effect for this variant and, assuming a lifetime risk of 15% for MI, we estimate carriers have an additional risk of 0.5-3%.1
5MTRR-I49MLowLikelyLikely pathogenic

Recessive, Carrier (Heterozygous)
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
6MBL2-R52CLowLikelyLikely pathogenic

Recessive, Carrier (Heterozygous)
0.048615This variant is associated with mannose binding protein deficiency which leads to impaired complement system immune response to mannose-rich pathogens. Patients homozygous for this allele or compound heterozygous are likely to have increased susceptibility to infection, but Hellemann et al. report heterosis for intensive care outcomes in heterozygous subjects. The wild-type version of this gene is known as variant allele A, while this is called variant allele D. See G54D (variant B) and G57E (variant C).1
7TGIF1-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
8TLR5-R392XLowUncertainUncertain pathogenic

Complex/Other, Heterozygous
0.0439673This variant is believed to impair the ability to generate an immune response to the flagella of the bacteria. It is weakly associated with an increased incidence of Legionnaires' Disease, p = 0.085, increased lifetime risk of disease ~0.88% (about twice average). The variant is also weakly associated with a reduced incidence of systemic lupus erythematosus, p = 0.165.1
9BRCA2-N372HLowUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.23656This is a common variant of BRCA2 (HapMap allele frequency of 23%). The variant is weakly associated with an increased chance of breast cancer, and zygosity of the variant is associated with sex of children: male children are more likely to be homozygous for this variant, female children are more likely to be heterozygous.1
10ERCC6-R1213GLowUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.196877When homozygous, this variant may cause Cockayne Syndrome, which is a severe autosomal-recessive disorder characterized by abnormal early growth and development, abnormal sensitivity to sunlight, and premature aging. Cockayne Syndrome Type I and Type II lead to death in early childhood. Several other variants in the ERCC6 gene are linked to Cockayne Syndrome. This variant may also be linked to age-related macular degeneration like other ERCC6 variants, and has been linked to colorectal cancer in one study. 1
11TP53-P72RLowUncertainUncertain pathogenic

Unknown, Homozygous
0.627743This is a common variant was first reported as a polymorphism. It has since had mixed associations with cancer: Storey et al. conclude a 7x *increased* risk of HPV cancer for homozygotes vs hets, but Jones et al. find a 1.98x *decreased* risk for colorectal cancer. This variant may have significant impact on particular cancers, but it is unclear what effect it has on the overall burden of cancer.1
12SP110-L425SLowUncertainUncertain pathogenic

Unknown, Heterozygous
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
13NPC1-H215RLowLikelyLikely protective

Complex/Other, Heterozygous
0.295687This variant is associated with a reduced risk of obesity, with an additive effect of -0.084 BMI per allele (an average of 0.54 pounds less, per allele, in a 5'6" individual). 1
14CFH-V62ILowLikelyLikely protective

Complex/Other, Heterozygous
0.391616Associated with a decreased risk for age related macular degeneration (ARMD). Homozygotes for this have a 4-5% decreased attributable risk (3-4% vs. average 8% risk), heterozygotes have slightly lower than average risk (7%). Non-carriers have an increased risk (12-13%). ARMD impairs sharp vision as age progresses. While there is no cure, treatment can slow progression of the disease and environmental factors (smoking and obesity) contribute to higher risk.1
15IL7R-T244ILowLikelyLikely protective

Unknown, Heterozygous
0.210169The reference genome variant for this allele has been associated with a slight increased risk of multiple sclerosis. Thus, this variant can be treated as a "protective" variant -- carriers of this variant are slightly less likely to have MS. Because the disease is rare and the effect of this variant is not very strong, the absolute decreased risk for carriers of this variant is less than .05% (less than 1 in 2000).1
16KCNJ11-K23ELowLikelyLikely protective

Unknown, Heterozygous
0.738148This variant is associated with decreased risk of type 2 diabetes. It is unclear whether this variant has additive effects, or acts in a dominant or recessive manner. Assuming diabetes has a lifetime risk of 36%, we estimate a decreased risk of around 1-2% per copy of this variant.1
17TOR1A-D216HLowLikelyLikely protective

Unknown, Heterozygous
0.102993This SNP has been shown to be benign and play a protective role against Dystonia. 1
18NEFL-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
19OCA2-R419QLowLikelyLikely benign

Unknown, Heterozygous
0.0565161This variant is associated with eye color, as is OCA2 R305W. Individuals with this variant are reported to be more likely to have green/hazel eyes as opposed to blue/gray eyes. Other variants in this gene are associated with oculocutaneous albinism (albinism which involves skin and eyes).1
20MLH1-I219VLowUncertainUncertain benign

Dominant, Homozygous
0.239822Computational evidence, functional assays, and case/control studies suggest this variant is probably benign.1
21LOXL1-R141LLowUncertainUncertain benign

Complex/Other, Heterozygous
0.255899Associated with exfoliative glaucoma & syndrome (XFG & XFS) in various populations, but with contradicting results (protective in Caucasians, pathogenic in Japanese). Based on this it seems the variation itself -- although it affects protein structure -- is not itself causing disease. Instead it is likely associated with other nearby causal variants. As such, it is evaluated as benign by GET-Evidence (which focuses on reporting causal variants). See detailed variant report for disease risk associations.1
22RNASEH2B-I309ShiftLowUncertainUncertain benign

Unknown, Heterozygous
0.0234375This variant is predicted to be highly disruptive. Although other disruptive variants in this gene are reported to cause Aicardi-Goutieres syndrome in a recessive manner (a rare, fatal childhood disease), those variants were upstream of this position, and this variant is too common to be consistent with causing that disease (2% allele frequency). Based on this, it is tentatively evaluated as benign.1
23TPCN2-G734ELowUncertainUncertain benign

Unknown, Heterozygous
0.286166Pigmentation allele.1
24ENPP1-R774CLowUncertainUncertain benign

Unknown, Heterozygous
0.0258412Tentatively classified as benign. Initially reported as a recessive cause of infantile arterial calcification, but with no statistical significance. Other variants have been implicated as causal in these cases this variant. 5% allele frequency in caucasians contradicts this variant as having any highly 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
26PTCH1-P1315LLowUncertainUncertain benign

Unknown, Homozygous
0.29631Common polymorphism, presumed benign.1
27MAPT-R370WLowUncertainUncertain benign

Unknown, Heterozygous
0.155549Probably benign.1
28CBLC-H405YLowUncertainUncertain benign

Unknown, Heterozygous
0.0374605Probably benign.1
29CASP8-M1TLowUncertainUncertain benign

Unknown, Heterozygous
0.0310451Probably benign. Although start codons can be extremely disruptive and this gene is implicated in a rare disease (autoimmune lymphoproliferative syndrome), the allele frequency for this variant (2-3%) is high enough to contradict such a strong pathogenic effect. This may be because the gene has many other transcripts that do not include this position as exonic.1
30PCSK9-G670ELowUncertainUncertain benign

Unknown, Homozygous
0.888269This variant is likely benign. 1
31APOB-Y1422CLowUncertainUncertain benign

Unknown, Homozygous
0.999628This position is almost certainly an error in the HG18 reference sequence. 1
32TAS2R38-I296VLowUncertainUncertain benign

Unknown, Homozygous
0.463376This variant is associated with "taster" status of PTC, along with 49P and 262A. Due to linkage disequilibrium, the independent effects of positions 296 and 262 is unclear. The presence of 49P confers taster status in a dominant fashion, but in the absence of 49P, the presence of 262A/296V is still positively associated with tasting PTC.1
33SLC45A2-L374FLowUncertainUncertain benign

Unknown, Homozygous
0.691764Pigmentation allele for non-black hair, and consequently, possible increased susceptibility to malignant melanoma.1
34RP1-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
35TAS2R38-A49PLowUncertainUncertain benign

Unknown, Heterozygous
0.431121This variant is strongly associated with causing the "taster" phenotype of phenylthiocarbamine (PTC) in a dominant manner.1
VariantPrioritization scoreAllele
freq
Num of
articles
Zygosity and Prioritization Score Reasons

Exome coverage: 31432398 / 33212919 = 94.64%

GeneChromosomeCoverageMissingLengthMissing regions
1AGRN10.5231345715216729276138955553-955753, 957581-957640, 957650, 957658, 957676-957719, 957736, 957774, 957781-957804, 957819, 957825, 957834-957842, 970674-970704, 976045-976065, 976071-976146, 976161-976187, 976208-976260, 976553-976712, 976722-976727, 976729-976743, 976754-976764, 976766, 976769-976777, 976858-976876, 976898-976917, 976945-976979, 976989-977033, 977068-977082, 977401-977435, 977474-977485, 977488, 977492, 977512, 978631, 978669-978671, 978675, 978702-978726, 978747-978781, 978811-978830, 978918-978965, 978987, 978993-978994, 979004, 979019-979037, 979056-979057, 979066-979112, 979232-979254, 979275, 979309-979334, 979347-979360, 979401-979403, 979496, 979518, 979714-979716, 979735, 979791-979803, 980597-980619, 980637-980651, 980768, 980774, 980777, 980781-980794, 980863-980878, 981153, 981215-981241, 981253-981256, 981358-981364, 981415, 981423, 981613-981626, 981786-981816, 981857-981951, 981979-982001, 982053-982059, 982200-982230, 982245-982332, 982707-982745, 982784-982817, 983006-983017, 983027-983056, 983156-983160, 983175, 983186-983198, 983203-983205, 983208-983210, 983233-983255, 983392-983513, 983519-983549, 983558-983579, 983590-983745, 984253-984264, 984273, 984291-984351, 984359-984390, 984397-984439, 984624-984631, 984637-984676, 984687-984776, 984796-984831, 984946-984975, 985027, 985045, 985048, 985080, 985154-985175, 985315, 985330-985392, 985398-985417, 985623-985640, 985665-985690, 985807-985808, 985837-985868, 985967, 986151-986153, 986157, 986210-986217, 986639, 986642, 986645-986743, 986833-986850, 986855-986859, 986867-986868, 986876, 986893, 986907-986931, 986973, 987108-987127, 987150-987156, 987168, 987185-987188, 989252-989253, 989331-989349, 989828-989829, 990204-990209, 990214-990219, 990241-990256, 990280, 990306-990309, 990312-990318
2GABRD10.3340691685062590513591950863-1950930, 1956420-1956477, 1956824, 1956957-1956974, 1956994-1957016, 1957030-1957056, 1957083-1957167, 1957176-1957177, 1959016-1959023, 1959049-1959094, 1959631-1959656, 1959685, 1959696-1959697, 1959700-1959706, 1960550-1960575, 1960583-1960628, 1960644-1960652, 1960659-1960705, 1960996, 1961005-1961029, 1961040-1961072, 1961099-1961128, 1961142-1961201, 1961422-1961517, 1961532-1961631, 1961654-1961712, 1961716
3PEX1010.620795107033643729812337269-2337273, 2337925-2338005, 2338162-2338192, 2338199-2338202, 2338240-2338305, 2338312-2338334, 2339891-2339893, 2340004-2340048, 2340189, 2340195, 2343830-2343941
4NPHP410.9654286381686514842816038330-6038473, 6046293, 6046340-6046341, 6046344
5ESPN10.60896686159844100325656485016-6485285, 6485298-6485304, 6485308-6485309, 6488305-6488346, 6488362-6488393, 6488462-6488479, 6500364-6500408, 6500416-6500426, 6500449-6500489, 6500686-6500730, 6500737-6500744, 6500750-6500868, 6500994-6500996, 6501028-6501065, 6505776-6505798, 6505839-6505877, 6508701-6508716, 6508740-6508766, 6508808-6508840, 6508852, 6508856, 6508864, 6508879-6508904, 6508940-6508987, 6509036, 6509066, 6509080-6509117, 6509142, 6511758, 6511788-6511789, 6512062-6512096, 6512106-6512133
6PLEKHG510.9407337723424318931896527899-6527905, 6527968, 6528022, 6528038-6528061, 6528120-6528124, 6528183, 6528244-6528262, 6528300-6528302, 6528306-6528307, 6528317, 6530630, 6530643-6530646, 6530797-6530816, 6530845, 6530869, 6530943-6530944, 6531084-6531090, 6531095, 6531116, 6531128, 6531133, 6531160, 6531618, 6532656-6532667, 6533340, 6533409-6533411, 6534103, 6534203-6534210, 6534511-6534514, 6534521-6534550, 6534569-6534576, 6534607-6534608, 6534626-6534627, 6534645, 6535144, 6535148, 6535185, 6535194, 6535522, 6536027, 6556558, 6557380-6557383
7KIF1B10.999811782420481531310357040
8PEX1410.9894179894179912113410689977-10689979, 10690020-10690028
9TARDBP10.994377510040167124511082356-11082362
10MASP210.85540999514799298206111097840-11097868, 11102967-11102980, 11103034, 11103069, 11103079, 11103397-11103434, 11103438-11103442, 11103465-11103485, 11103499-11103513, 11103525, 11103538-11103568, 11103581-11103588, 11105470-11105474, 11105498-11105518, 11105528-11105555, 11105575-11105596, 11106647, 11106655, 11106761-11106783, 11106985-11107005, 11107034-11107036, 11107130-11107132, 11107260-11107264
11MTHFR10.9913749365804217197111854101, 11854517, 11854571-11854583, 11854848, 11855372
12PLOD110.995879120879129218411994847-11994853, 12030773-12030774
13CLCNKA10.75920542635659497206416349143-16349185, 16351272-16351278, 16353893-16353914, 16354601-16354605, 16355267, 16355300, 16355330-16355334, 16355638-16355662, 16355712-16355748, 16356226-16356257, 16356468-16356487, 16356501, 16356508-16356522, 16356569-16356570, 16356956-16357009, 16357029-16357147, 16357157-16357163, 16358215-16358218, 16358281-16358307, 16358313-16358322, 16358328, 16358698-16358700, 16358724-16358742, 16358773, 16358951-16358959, 16359003-16359019, 16359735, 16359738-16359744, 16360129-16360130
14CLCNKB10.62645348837209771206416371040-16371081, 16372068-16372096, 16372159-16372173, 16373030-16373050, 16373082, 16373158, 16374400-16374404, 16374445-16374490, 16374840-16374854, 16374884-16374885, 16375044-16375048, 16375063-16375064, 16375633, 16375728, 16375734-16375740, 16376392-16376399, 16377011-16377031, 16377376-16377393, 16377416-16377428, 16377437-16377484, 16377508-16377513, 16377521, 16377531, 16377538-16377543, 16377975-16378004, 16378030-16378042, 16378205-16378215, 16378225-16378227, 16378234, 16378258-16378266, 16378285-16378315, 16378693-16378755, 16378766-16378845, 16378856, 16378859, 16378875-16378906, 16380151, 16380188-16380201, 16380221-16380266, 16381956-16381974, 16381994-16382018, 16382170-16382195, 16382202-16382241, 16382987, 16382996-16383002, 16383367-16383368
15ATP13A210.91335026813435307354317312780, 17312783-17312791, 17312804-17312806, 17312809, 17312996-17313026, 17313050-17313053, 17313300-17313310, 17313343, 17313349, 17313354-17313357, 17313399, 17313585-17313619, 17313622, 17313627-17313628, 17313632, 17313637, 17313639-17313658, 17313670, 17313683-17313693, 17313705, 17313711, 17313715, 17314817-17314843, 17314878, 17314884, 17314919-17314923, 17314942, 17314948-17314960, 17314963-17314967, 17318305, 17318311, 17318316-17318319, 17322578-17322627, 17322749-17322760, 17322794, 17323547-17323557, 17326544, 17326576-17326593, 17326612, 17326741-17326752
16ALDH4A110.994680851063839169219208348-19208353, 19229003-19229005
17PINK110.9845360824742327174620960227-20960229, 20960256-20960279
18HSPG210.989071038251371441317622149935-22149952, 22150813-22150850, 22154393-22154394, 22154845-22154846, 22155542, 22167659, 22167662, 22176938-22176939, 22181416-22181426, 22213739-22213743, 22263648-22263710
19WNT410.9071969696969798105622446664, 22456142-22456147, 22456162-22456175, 22469339-22469415
20HMGCL10.99079754601227997824151854-24151862
21FUCA110.8836545324768163140124186373-24186380, 24194419, 24194446, 24194450-24194461, 24194484-24194547, 24194572-24194582, 24194649-24194650, 24194661-24194676, 24194695-24194702, 24194715, 24194718-24194720, 24194728-24194763
22LDLRAP110.951456310679614592725870217-25870223, 25870241-25870277, 25889632
23SEPN110.88908872901679185166826126722-26126904, 26139279, 26139283
24KCNQ410.93726053639847131208841249766-41249769, 41249776, 41249783, 41249793-41249837, 41249851-41249887, 41249919-41249922, 41249932-41249948, 41250065-41250073, 41284244-41284245, 41284276, 41284284-41284285, 41284291-41284298
25LEPRE110.9909543193125320221143212431, 43232254, 43232383-43232398, 43232494-43232495
26SLC2A110.996619337390135147943424318-43424322
27DHCR2410.9806576402321130155155352583-55352598, 55352779-55352792
28PCSK910.93698893698894131207955505553-55505559, 55505715-55505717, 55521666-55521708, 55521728, 55521731-55521771, 55521797-55521806, 55521817-55521818, 55521845-55521850, 55521853, 55523121-55523126, 55523144-55523146, 55524218-55524219, 55524266-55524270, 55524279
29COL11A110.9934029686641365457103364222-103364224, 103364247-103364252, 103364271-103364296, 103364545
30GSTM110.9421613394216138657110230792, 110230798-110230801, 110230836-110230861, 110232905-110232911
31VANGL110.99301587301587111575116227966-116227970, 116228116-116228121
32NOTCH210.983279395900761247416120539665-120539714, 120539739-120539784, 120539916, 120539936, 120547965, 120548025, 120548051, 120548055, 120548091-120548097, 120572547, 120572569-120572575, 120572609-120572610, 120611964, 120611988-120611990, 120612006
33FLG10.9852289512555418012186152276650-152276651, 152277437, 152278434, 152279378-152279409, 152279974, 152280079, 152281320, 152281323, 152282088, 152282091-152282094, 152282100, 152282290, 152282295-152282303, 152282987, 152283261-152283286, 152283530, 152283533, 152283970-152283980, 152284010, 152284074-152284081, 152284174, 152284246, 152284332, 152284339, 152284344, 152284524, 152284958-152284964, 152284989, 152284995-152284997, 152285000, 152285005, 152285038, 152285050, 152285109-152285147, 152285214, 152285306-152285312, 152286163-152286164, 152286411, 152286414, 152286423-152286425
34CHRNB210.9960238568588561509154540521-154540524, 154544385, 154544392
35PKLR10.97855072463768371725155269971-155270007
36NTRK110.99581764951903102391156830763-156830768, 156830776-156830779
37NDUFS210.999281609195411392161176241
38F510.99790262172285146675169510337-169510343, 169510472-169510478
39CDC7310.9993734335839611596193091331
40PSEN210.98886414253898151347227071406-227071420
41ADCK310.9917695473251161944227152903-227152905, 227153082-227153085, 227169786, 227169788, 227172336-227172338, 227174435-227174438
42GJC210.351515151515158561320228345460-228345461, 228345572-228345604, 228345627-228345632, 228345635-228345650, 228345658-228345660, 228345672-228345699, 228345770-228345778, 228345785-228345824, 228345831-228345898, 228345909-228345937, 228345968, 228346010-228346087, 228346106, 228346109-228346129, 228346138-228346159, 228346167, 228346184-228346210, 228346222-228346271, 228346281-228346621, 228346654-228346690, 228346695, 228346709-228346749, 228346751
43ACTA110.894179894179891201134229567637-229567643, 229567802-229567831, 229567855-229567858, 229567868-229567877, 229567918-229567929, 229568017-229568021, 229568045-229568054, 229568107-229568137, 229568156-229568165, 229568393
44ACTN210.9973929236499172685236850017, 236850020, 236907997-236908001
45RYR210.99973161567364414904237632446, 237821270, 237821274-237821275
46OPTN100.998846597462512173413151245-13151246
47PHYH100.995083579154385101713342027-13342031
48DCLRE1C100.9995189995191207914981868
49CUBN100.9969646799117331087217032370-17032399, 17032423-17032425
50PTF1A100.5815602836879441398723481460-23481473, 23481507-23481514, 23481517, 23481553-23481588, 23481623-23481781, 23481813-23481838, 23481859-23481919, 23481925-23481955, 23481975-23481999, 23482060-23482080, 23482101-23482104, 23482109, 23482115-23482116, 23482129-23482152
51PDSS1100.9759615384615430124826986666-26986687, 26986745-26986752
52RET100.9739910313901387334543572707-43572779, 43595968-43595969, 43596080-43596087, 43600515, 43600523, 43600602-43600603
53CHAT100.9919893190921218224750822350-50822361, 50822364, 50822424, 50863217-50863220
54EGR2100.99580712788266143164573487-64573492
55CDH23100.984785202863961531005673439193-73439207, 73439223-73439249, 73442237-73442242, 73453989-73453990, 73455273, 73461917, 73461936, 73464690-73464703, 73464738, 73464763-73464804, 73464823-73464831, 73464841, 73464860-73464887, 73490274, 73491920, 73550973, 73571712-73571713
56VCL100.999706314243761340575758104
57LDB3100.9949633699633711218488476213-88476214, 88476223, 88476249-88476251, 88476340-88476344
58GLUD1100.9672033392963655167788836362-88836368, 88854083, 88854164, 88854342, 88854363-88854374, 88854379-88854391, 88854396, 88854425-88854431, 88854439, 88854451, 88854462-88854467, 88854476, 88854479-88854481
59HPS1100.97768281101614472106100177375-100177384, 100177388, 100177398-100177429, 100177943-100177946
60PAX2100.9992301770592811299102509641
61FBXW4100.9927360774818491239103454285-103454287, 103454358-103454363
62HPS6100.95962199312715942328103825282-103825290, 103825317-103825318, 103825374-103825425, 103825439-103825444, 103825455-103825456, 103825460, 103825480-103825482, 103825489-103825493, 103825758-103825771
63SUFU100.9958762886597961455104264001-104264004, 104264090-104264091
64CYP17A1100.9849377865095231527104592346-104592363, 104595011-104595015
65COL17A1100.9997774810858914494105816916
66EMX2100.988142292490129759119302797-119302802, 119302938-119302940
67BAG3100.9982638888888931728121411353-121411355
68HTRA1100.834372834372832391443124221191-124221246, 124221257-124221283, 124221294-124221305, 124221310-124221311, 124221330-124221367, 124221373-124221380, 124221417, 124221427-124221434, 124221457-124221515, 124221550-124221554, 124221583-124221596, 124221627-124221635
69HRAS110.70175438596491170570532641-532643, 532646, 532662-532676, 532696-532719, 532724, 532742-532755, 533597-533612, 533768-533773, 533824, 533834-533848, 533872-533899, 533910-533940, 534217, 534255, 534292-534303, 534310
70TALDO1110.891518737672581101014747482-747499, 747548-747564, 747571-747578, 763344-763362, 763386-763419, 763496-763499, 763512, 763902-763903, 764406-764412
71SLC25A22110.40020576131687583972791933-791934, 791950-791964, 791977-791979, 791985, 791990-792058, 792142-792204, 792214, 792304-792326, 792337-792338, 792342, 792353-792408, 792421-792458, 792553-792571, 792582-792583, 792605-792674, 792685, 792692, 792700-792703, 792713-792727, 792870-792917, 792959-792971, 792975-792982, 794491, 794499, 794508-794509, 794776-794805, 794812-794844, 794859-794868, 794870-794901, 794987-795005
72PNPLA2110.644224422442245391515819719-819905, 821718-821721, 821734-821735, 822020-822021, 822486, 822492, 822495, 823532, 823537-823539, 823543, 823546, 823566-823586, 823735, 823738-823739, 823809, 823821-823832, 823855, 823998-824024, 824026, 824032-824042, 824060-824063, 824068-824072, 824076, 824109, 824117-824127, 824322, 824369, 824390-824429, 824523-824561, 824581-824614, 824650-824685, 824713-824730, 824735, 824772-824774, 824777-824792, 824797, 824800-824807, 824825-824862
73CTSD110.8119451170298623312391774893-1774899, 1775072-1775092, 1778571-1778610, 1778685, 1778691-1778698, 1780218-1780264, 1780293, 1780296-1780298, 1780839-1780868, 1782650-1782651, 1782687-1782690, 1782696, 1785022-1785089
74TNNI2110.92167577413479435491861648, 1861651-1861659, 1861758-1861767, 1861813-1861819, 1861824, 1861849, 1862058-1862065, 1862077, 1862686-1862690
75TNNT3110.510939510939513807771946329-1946344, 1947925-1947939, 1950354-1950373, 1951047-1951053, 1954951-1954991, 1955010-1955067, 1955161-1955238, 1955638-1955670, 1955776-1955778, 1955850-1955874, 1955878-1955885, 1956059-1956067, 1956108-1956112, 1956141, 1958228-1958233, 1959668-1959722
76H19110.98599439775911510712017823-2017837
77IGF2110.293952180028135027112154217-2154281, 2154294-2154359, 2154368-2154441, 2154747-2154824, 2154836, 2154877-2154895, 2156597-2156608, 2156651-2156673, 2156690, 2156703-2156732, 2161366-2161369, 2161384, 2161399-2161526
78TH110.3415873015873103715752185463-2185557, 2185567-2185590, 2185601, 2185612-2185619, 2186503-2186512, 2186540-2186595, 2186898-2186905, 2186913-2186915, 2186968-2186977, 2186985-2186993, 2187239-2187245, 2187251-2187288, 2187710-2187779, 2187863-2187998, 2188117-2188163, 2188170-2188200, 2188212-2188254, 2188262, 2188665-2188715, 2189114, 2189117, 2189126, 2189129, 2189134, 2189147-2189157, 2189162-2189163, 2189365-2189367, 2189375-2189379, 2189384, 2189394-2189395, 2189402, 2189721-2189741, 2189750, 2189779, 2189793-2189845, 2189850-2189856, 2190909-2191101, 2191920-2192000, 2192937, 2192987
79KCNQ1110.8089611029049738820312466329-2466450, 2466459-2466594, 2466598, 2466609-2466631, 2466648-2466660, 2466668-2466714, 2591858-2591881, 2591920-2591923, 2593278-2593279, 2593285, 2593288, 2608826-2608831, 2610074-2610081
80CDKN1C110.145110410094648139512905240, 2905280-2905289, 2905297-2905308, 2905319-2905323, 2905900-2906542, 2906563-2906675, 2906691-2906719
81SMPD1110.991033755274261718966411931-6411947
82SBF2110.99873873873874755509812120-9812126
83ABCC8110.9943109987357827474617498282-17498308
84WT1110.86743886743887206155432449502-32449512, 32456324, 32456433-32456439, 32456513, 32456534-32456598, 32456624-32456695, 32456728-32456753, 32456811-32456812, 32456846-32456866
85SLC35C1110.993371212121217105645832742-45832748
86PEX16110.9884726224783912104145937373, 45937376, 45939275-45939284
87F2110.9941144997324811186946741365, 46741369, 46745045-46745048, 46749578-46749582
88MYBPC3110.94326797385621217382547353716-47353722, 47354422, 47354456-47354457, 47354814-47354824, 47355135, 47356730, 47364606, 47367777-47367783, 47367829-47367830, 47367833-47367839, 47367876-47367892, 47367914, 47368980, 47368985, 47368990-47368997, 47369022-47369030, 47369409, 47370065-47370071, 47371325-47371350, 47371439-47371440, 47371444-47371446, 47371457, 47371580-47371658, 47372081-47372087, 47372125-47372132, 47372139, 47372881-47372882, 47372911, 47372941, 47372954
89SLC39A13110.982078853046620111647431761-47431779, 47436348
90RAPSN110.995964487489915123947460479-47460482, 47463417
91BEST1110.996018202502847175861723194-61723195, 61723278-61723282
92ROM1110.9801136363636421105662380758, 62380776-62380795
93SLC22A12110.7352587244284440166264359088-64359096, 64359101, 64359118, 64359152-64359189, 64359255-64359275, 64359285-64359311, 64359356-64359369, 64360296, 64360301, 64360306, 64360877-64360888, 64360928-64360935, 64360973-64360982, 64361008-64361014, 64361018-64361023, 64361107-64361134, 64361178-64361193, 64361217-64361234, 64366019-64366037, 64366103, 64366280-64366294, 64366322-64366326, 64366346, 64366349, 64366353, 64366367, 64367165-64367199, 64367210-64367230, 64367236-64367307, 64367325, 64367328, 64367336, 64367344-64367362, 64367839, 64367842-64367844, 64367847, 64367851, 64367856, 64367917-64367919, 64368207-64368211, 64368239-64368247, 64368251-64368252, 64368401
94PYGM110.92368525108739193252964520551, 64520587-64520588, 64520628, 64521024-64521025, 64521028-64521029, 64521032-64521042, 64521046, 64521054, 64521059, 64521079, 64521085-64521086, 64521351-64521357, 64521381-64521414, 64521433, 64521489-64521497, 64522175-64522184, 64522194, 64522204, 64525254, 64525753-64525777, 64525799-64525821, 64525957-64525971, 64526075-64526078, 64527128-64527131, 64527143-64527152, 64527156-64527166, 64527170, 64527178, 64527216-64527224, 64527311
95MEN1110.9859307359307426184864572602, 64572616-64572626, 64577239, 64577489-64577495, 64577571-64577575, 64577580
96CST6110.962222222222221745065779624-65779628, 65780365-65780373, 65780376, 65780845-65780846
97SPTBN2110.99930294158655717366468261, 66468399-66468402
98PC110.95730845349166151353766616799-66616801, 66616804, 66617417-66617418, 66617455, 66617716, 66618177, 66618299, 66618535-66618538, 66618559, 66618564-66618573, 66619977, 66619981, 66619989, 66619992, 66620001-66620007, 66620040-66620068, 66620096-66620099, 66620108-66620115, 66631245-66631249, 66631351, 66633658-66633665, 66633679-66633680, 66633683, 66633788-66633797, 66638585, 66638645-66638655, 66638794, 66638803, 66638810, 66638851, 66638856-66638857, 66638895, 66638941-66638945, 66638950, 66639192-66639203, 66639207-66639216
99CABP4110.910628019323677482867222930-67222965, 67223120-67223125, 67223141, 67223150-67223152, 67223168-67223170, 67223242-67223243, 67223659-67223673, 67225903-67225910
100AIP110.5770392749244742099367256769-67256805, 67256847-67256862, 67256886-67256920, 67257509-67257521, 67257549-67257588, 67257602-67257647, 67257666-67257682, 67257788-67257834, 67257845-67257849, 67257859-67257890, 67258259-67258302, 67258330-67258349, 67258367-67258369, 67258383-67258430, 67258448-67258464
101NDUFV1110.998566308243732139567374518-67374519
102NDUFS8110.939968404423383863367799666, 67799784-67799795, 67800708, 67803929-67803950, 67803980-67803981
103TCIRG1110.83553951062976410249367808782-67808817, 67809233-67809234, 67809238, 67810197-67810236, 67810268, 67810280, 67810466-67810498, 67810842-67810846, 67810852, 67810930-67810935, 67811041, 67811045-67811046, 67811299-67811311, 67811314-67811319, 67811348-67811374, 67811599-67811624, 67811627-67811632, 67811649-67811654, 67811657-67811665, 67811678, 67811715-67811728, 67811771-67811811, 67815121, 67816565-67816582, 67816723, 67816755, 67817142-67817158, 67817201-67817244, 67817451-67817482, 67817671, 67817968-67817971, 67818079-67818090, 67818131
104LRP5110.93729372937294304484868080183-68080273, 68131369-68131377, 68170951-68170952, 68171026-68171027, 68171054-68171055, 68178981-68178982, 68191149-68191165, 68192690, 68201225-68201227, 68201232, 68201260-68201261, 68204405-68204410, 68204445-68204449, 68204452-68204453, 68205967, 68206147-68206150, 68207336-68207384, 68213956, 68213973, 68216331-68216338, 68216400-68216412, 68216445-68216479, 68216491-68216537
105IGHMBP2110.9802146210596959298268671421-68671447, 68671452, 68671462-68671492
106DHCR7110.9915966386554612142871146436, 71146577, 71146657-71146665, 71146691
107MYO7A110.768050541516251542664876858930-76858935, 76867961-76867971, 76867979, 76868024-76868025, 76873172, 76873349-76873361, 76877176-76877178, 76883822-76883856, 76883890-76883922, 76885802-76885960, 76886418-76886510, 76888595-76888689, 76890091-76890116, 76890126-76890175, 76890781-76890999, 76891420-76891492, 76891498-76891527, 76892426-76892506, 76892519-76892635, 76892997-76893200, 76893469-76893522, 76893535-76893538, 76893574, 76893578-76893607, 76893623-76893645, 76894117, 76894125-76894151, 76894176-76894193, 76894202, 76895633-76895664, 76895691-76895719, 76895740-76895743, 76900489-76900490, 76901067-76901071, 76901079-76901088, 76901101-76901115, 76901759, 76901785-76901798, 76901819-76901825, 76903175-76903176, 76903253-76903262
108TRPC6110.9996423462088712796101454164
109DYNC2H1110.99992275009656112945102991497
110ACAT1110.97118380062305371284107992350-107992386
111DLAT110.9994855967078211944111896235
112APOA1110.80721393034826155804116706589-116706636, 116706690-116706693, 116706767-116706816, 116706831-116706845, 116706859-116706896
113WNK1120.982235277661211277149862782-862797, 862818-862832, 862846-862871, 862877-862934, 862988-862998, 863007
114CACNA2D4120.993848857644992134141906584-1906598, 1906658-1906663
115CACNA1C120.997256515775031865612794934-2794940, 2797813-2797823
116VWF120.9867330016583711284426131926-6131932, 6131955-6131976, 6132003-6132033, 6166033-6166057, 6166078-6166096, 6166220-6166227
117TNFRSF1A120.980994152046782613686438624-6438649
118TPI1120.976187506976731-6976747, 6976758
119ATN1120.996921354603971135737045892-7045894, 7050645-7050646, 7050649-7050654
120KRAS120.99824561403509157025380250
121PKP2120.998011137629285251433049448-33049449, 33049663-33049665
122LRRK2120.997494725738419758440757266-40757272, 40761448, 40761500, 40761508, 40761533-40761541
123COL2A1120.9939516129032327446448373324-48373332, 48375155-48375163, 48377512-48377519, 48377870
124MLL2120.990249187432291621661449425787-49425798, 49426224, 49426576-49426580, 49426730-49426732, 49426893-49426894, 49427043-49427062, 49427207-49427210, 49427251-49427277, 49427307-49427335, 49427665-49427667, 49431273-49431275, 49431279-49431285, 49431305-49431312, 49431539-49431543, 49431577-49431591, 49431602-49431603, 49434048-49434050, 49434053, 49434069-49434071, 49434074-49434082
125DHH120.995801847187245119149483954-49483958
126TUBA1A120.921052631578953645649522206-49522241
127AQP2120.98284313725491481650344623-50344626, 50344938-50344944, 50349182, 50349390-50349391
128KRT81120.9644268774703654151852683937-52683943, 52684021-52684061, 52685179-52685180, 52685184-52685186, 52685193
129KRT86120.9712525667351142146152696893-52696933, 52697014
130GNS120.9795057263411734165965152967, 65152972-65152993, 65152999-65153009
131LEMD3120.998538011695914273665563622-65563625
132CEP290120.9982526881720413744088462380, 88519077-88519079, 88534733-88534741
133TMPO120.9942446043165512208598909886-98909897
134GNPTAB120.98833200742509443771102224354-102224384, 102224441-102224453
135UNG120.997876857749472942109535574, 109535577
136TRPV4120.99617737003058102616110221476-110221481, 110224604, 110224607, 110232257-110232258
137ATP2A2120.99424736337488183129110719595-110719606, 110719647-110719652
138ATXN2120.838914256722486353942111926393-111926396, 112036588-112036838, 112036858-112036866, 112036876-112037087, 112037102-112037112, 112037129-112037155, 112037192-112037312
139ACADS120.96933010492333381239121175782-121175791, 121176954-121176981
140HNF1A120.945147679324891041896121416582, 121416702, 121434347-121434370, 121435277-121435280, 121435313-121435328, 121437098-121437100, 121437300-121437306, 121437318-121437319, 121437322-121437325, 121437344-121437365, 121437382-121437388, 121437404-121437409, 121437414, 121438879, 121438932-121438936
141ATP6V0A2120.9988331388564832571124197160-124197161, 124241398
142PUS1120.884735202492211481284132414269-132414296, 132414313, 132414317-132414319, 132414452-132414467, 132414475-132414536, 132414578, 132414609, 132414621-132414625, 132425929-132425930, 132425965-132425967, 132425976, 132425981, 132425992-132426008, 132426252, 132426479, 132426496-132426500
143SACS130.9997816593886531374023949260-23949262
144B3GALTL130.975283901135637149731774223, 31774230, 31774236-31774240, 31774261-31774290
145FREM2130.9947423764458550951039261565-39261583, 39261610-39261637, 39261838-39261840
146ZIC2130.74796747967484031599100634333-100634374, 100634390-100634422, 100634460-100634464, 100634467-100634477, 100634523-100634546, 100634586-100634608, 100634655, 100634676-100634704, 100634741-100634760, 100635008-100635013, 100637322-100637323, 100637596-100637640, 100637647-100637678, 100637714, 100637724-100637759, 100637785-100637852, 100637858, 100637904-100637918, 100637928-100637936
147PCCA130.9995427526291712187100741450
148COL4A1130.99800399201597105010110959306-110959315
149F7130.1865168539325810861335113760156-113760219, 113765004-113765159, 113768073-113768090, 113768200-113768209, 113768212, 113768216, 113769974-113770114, 113771096-113771101, 113771109-113771143, 113771154-113771156, 113771158, 113771167-113771168, 113771787-113771797, 113771801-113771802, 113771816-113771910, 113772727-113772754, 113772779-113772998, 113773011-113773048, 113773055-113773061, 113773076-113773322
150F10130.854124062713022141467113777204-113777228, 113777234-113777239, 113798340-113798347, 113798361-113798363, 113798373, 113798390-113798391, 113801707, 113803230-113803260, 113803327-113803373, 113803387, 113803445-113803451, 113803478-113803505, 113803539-113803543, 113803644-113803660, 113803690, 113803693-113803702, 113803751-113803771
151GRK1130.95508274231678761692114321768-114321780, 114321927-114321965, 114322030, 114322036, 114322039-114322044, 114322137-114322148, 114325879-114325882
152TEP1140.9986047691527111788420850466, 20851761-20851770
153PABPN1140.978284473398482092123790681-23790683, 23790695-23790709, 23790914, 23791022
154MYH6140.998797250859117582023871998-23872004
155NRL140.957983193277313071424550587-24550592, 24550604-24550615, 24550643-24550649, 24550685-24550688, 24551768
156FOXG1140.79795918367347297147029236536, 29236545-29236546, 29236655-29236662, 29236673-29236958
157COCH140.9758015728977640165331344161-31344178, 31344266-31344287
158NKX2-1140.9883913764510814120636986853-36986861, 36986875, 36988376-36988379
159MGAT2140.995535714285716134450088127-50088130, 50088138, 50088145
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232LRRC50160.998622589531683217884199439, 84209864, 84211335
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236CYBA160.2210884353741545858888709761-88709968, 88709978-88709979, 88712524-88712536, 88712540-88712546, 88712576-88712605, 88713163-88713195, 88713214-88713224, 88713236-88713246, 88713510-88713522, 88713542-88713566, 88714458-88714504, 88717364-88717421
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324SLC5A5190.93426501035197127193217983261-17983262, 17983265-17983282, 17983318-17983331, 17983357-17983375, 17984947-17984968, 17985006-17985012, 17985305-17985318, 17994522-17994536, 17994659-17994665, 17994673, 17994676-17994683
325IL12RB1190.9889391654097522198918197572-18197590, 18197617-18197618, 18197621
326COMP190.82937554969217388227418893978, 18895084, 18895113-18895125, 18896340-18896348, 18896535-18896543, 18896572-18896573, 18896618-18896624, 18896659-18896661, 18896845-18896847, 18896853, 18898301-18898330, 18898423-18898446, 18899036-18899075, 18899112-18899115, 18899244, 18899255-18899256, 18899271, 18899297-18899303, 18899401-18899433, 18899441-18899484, 18899509-18899530, 18899668-18899671, 18900068-18900078, 18900089-18900106, 18900751-18900757, 18900817-18900826, 18900862, 18900913-18900923, 18901663-18901691, 18901709-18901727, 18902043-18902063
327CEBPA190.40761374187558638107733792244, 33792492-33792521, 33792549-33792556, 33792569-33792572, 33792581-33792594, 33792600-33792641, 33792682-33792692, 33792728-33792876, 33792892-33792955, 33792965-33793080, 33793103-33793110, 33793113-33793190, 33793196-33793265, 33793274-33793316
328SCN1B190.950433705080554080735521725-35521764
329HAMP190.99607843137255125535773521
330MAG190.92344497607656144188135790457-35790458, 35790544-35790586, 35790629-35790647, 35790651-35790652, 35790704-35790707, 35790734-35790737, 35791072-35791135, 35791149-35791154
331PRODH2190.9788950962135334161136290983, 36290994-36291004, 36303303, 36303312-36303313, 36303319-36303336, 36303339
332TYROBP190.958702064896761433936398365-36398376, 36398390, 36399130
333SDHAF1190.916666666666672934836486177-36486191, 36486259-36486265, 36486335-36486341
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338PRX190.9776561787505798438640909628-40909652, 40909679-40909698, 40909717-40909769
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340BCKDHA190.995515695067266133841916549, 41928651-41928654, 41928657
341ATP1A3190.9923871669385528367842470748-42470749, 42471024, 42471323-42471334, 42480599-42480605, 42498223-42498228
342BCAM190.93163751987281129188745312382-45312458, 45323973-45324000, 45324031, 45324036-45324040, 45324062-45324079
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344ERCC2190.9859833552343432228345867001-45867025, 45867041, 45867113, 45867704-45867708
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350MED25190.8680926916221296224450321612-50321634, 50321828-50321856, 50333055-50333061, 50333131, 50333774-50333786, 50333793, 50334062-50334099, 50334125, 50334128, 50334135, 50334141, 50334639, 50335394-50335414, 50338418-50338420, 50338791-50338795, 50338812-50338813, 50338824-50338831, 50338834, 50338851, 50339088-50339116, 50339158-50339161, 50339183-50339189, 50339194-50339199, 50339489-50339491, 50339503, 50339525-50339561, 50339588, 50339605-50339650, 50340141, 50340144-50340146
351PNKP190.997445721583654156650365650, 50365859-50365861
352MYH14190.9952544591719829611150764881-50764892, 50770211-50770227
353KCNC3190.7726473175022517227450823503-50823511, 50823536-50823546, 50823566-50823569, 50823573, 50826289-50826297, 50826333-50826341, 50826357, 50826395-50826402, 50826409-50826412, 50826422-50826426, 50826479, 50826593, 50826693, 50826900, 50831498-50831499, 50831524-50831566, 50831638-50831640, 50831645-50831649, 50831714-50831731, 50831783-50831787, 50831839-50831848, 50831854-50831862, 50831873-50831898, 50831924-50831970, 50831987-50832033, 50832087-50832163, 50832180-50832339
354ETFB190.991354466858799104151857431-51857439
355NLRP12190.9676710608914103318654304620, 54312847-54312916, 54312959, 54313587-54313612, 54313676-54313680
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358TSEN34190.969989281886392893354695268, 54695349-54695375
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360TNNI3190.93760262725783860955665561, 55666164, 55666188-55666198, 55668007, 55668418-55668441
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362KLF1120.9727095516569242153910183844-10183885
363MYCN20.9620071684587853139516082327, 16082385-16082393, 16082503, 16082538, 16082575, 16082676-16082684, 16082827, 16082831-16082843, 16082847, 16082862-16082877
364MATN320.995208761122527146120212320-20212321, 20212351, 20212368-20212371
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371SOS120.998750624687665400239294822-39294825, 39347559
372ABCG520.9759713701431547195644058950-44058996
373ABCG820.999505440158261202244099147
374EPCAM20.919576719576727694547596645-47596720
375MSH220.999643493761141280547635540
376MSH620.97477345089395103408348010412-48010441, 48010473-48010483, 48010488, 48010493-48010513, 48010541-48010568, 48010580-48010584, 48010596-48010602
377EFEMP120.997975708502023148256102082-56102084
378ATP6V1B120.998702983138782154271163085-71163086
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381ALMS120.9996801023672441250473613032-73613034, 73828342
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383HTRA220.976034858387833137774757160-74757163, 74757189-74757215, 74757368-74757369
384SUCLG120.9894332372718511104184686314-84686320, 84686326-84686329
385REEP120.99339933993399460686564609-86564612
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388ZAP7020.9946236559139810186098340554, 98340759-98340767
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392PROC20.909812409812411251386128180493-128180503, 128180651-128180747, 128180872, 128180905-128180920
393CFC120.80654761904762130672131279610, 131279616-131279630, 131280363-131280395, 131280432, 131280438, 131280460-131280477, 131280786-131280816, 131280833-131280851, 131285314-131285324
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395ITGA620.9978632478632573276173292520, 173292532-173292533, 173292536, 173292617-173292619
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398DFNB5920.9962228517469341059179318283-179318286
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412THBD200.9791666666666736172823029891-23029919, 23030057-23030063
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414HNF4A200.9852631578947421142543052736-43052756
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421CHRNA4200.229299363057321452188461978090-61978114, 61978117-61978122, 61978134-61978180, 61978193-61978215, 61981005-61981218, 61981230-61981340, 61981360-61981387, 61981399-61981479, 61981485, 61981500-61981708, 61981714-61981766, 61981775, 61981829-61981868, 61981877-61981897, 61981913, 61981926-61981955, 61981976-61981987, 61982025-61982098, 61982128, 61982147-61982171, 61982239-61982241, 61982244-61982248, 61982291-61982332, 61982359, 61982365-61982379, 61987327-61987436, 61987723-61987767, 61990900-61991051, 61992442-61992517
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423SOX18200.0207792207792211131115562679519-62679680, 62679686-62679812, 62679826-62680217, 62680224-62680315, 62680512-62680869
424APP210.995676610462610231327542893-27542902
425IFNGR2210.9250493096646976101434775850-34775922, 34793898-34793900
426RCAN1210.930171277997365375935987192-35987195, 35987200-35987204, 35987209-35987215, 35987242-35987278
427RUNX1210.9764379764379834144336164432, 36164444-36164453, 36259225, 36259272-36259290, 36259302-36259304
428CLDN14210.99444444444444472037833545, 37833579, 37833589-37833590
429TMPRSS3210.994871794871797136543796670-43796676
430CBS210.9752415458937241165644476916-44476927, 44476979-44476984, 44479001-44479009, 44479043, 44479048-44479060
431CSTB210.868686868686873929745196085-45196089, 45196103-45196136
432AIRE210.345543345543351072163845705890, 45705893-45705936, 45705945-45706013, 45706440-45706489, 45706500-45706524, 45706582-45706614, 45706862, 45706903-45706936, 45706942-45707003, 45707413-45707420, 45707426, 45707442, 45708228-45708245, 45708277-45708281, 45708341, 45709540-45709548, 45709591, 45709600-45709601, 45709604-45709606, 45709610, 45709624-45709627, 45709634-45709664, 45709672, 45709896-45709907, 45709927-45709951, 45710978-45711035, 45711064-45711078, 45712185, 45712203-45712216, 45712242-45712283, 45712876-45713058, 45713672-45713712, 45713726-45713728, 45713730-45713732, 45713735-45713736, 45713739-45713793, 45714284-45714386, 45716266-45716328, 45717539-45717550, 45717568-45717602
433ITGB2210.82987012987013393231046306803-46306806, 46308608-46308658, 46308668-46308747, 46308753-46308810, 46309191-46309212, 46309225, 46309340-46309341, 46309345, 46309355, 46309397-46309410, 46309896-46309901, 46309918-46309926, 46309936-46309938, 46309975, 46309998-46310036, 46311733-46311781, 46311844-46311859, 46311892-46311901, 46311904-46311911, 46320243, 46320258, 46320334-46320345, 46320348, 46320389, 46321423-46321424
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437COL6A221034234247552183-47552524
438FTCD210.00430504305043061619162647556901-47556978, 47556986-47556987, 47557153-47557248, 47558422-47558560, 47558794-47558837, 47565331-47565492, 47565732-47565861, 47566180-47566241, 47570033-47570164, 47570302-47570439, 47571472-47571651, 47571806-47571894, 47572821-47572949, 47574063-47574246, 47575384-47575437
439PCNT210.99021076815503981001147744185, 47766109-47766122, 47786635-47786637, 47786686-47786689, 47786756, 47786765-47786772, 47787029-47787042, 47832831-47832840, 47841940-47841944, 47845849-47845851, 47847635-47847636, 47848442-47848454, 47848459, 47850128, 47856000, 47856003, 47856012-47856019, 47863847-47863854
440PEX26220.99673202614379391818561370-18561372
441PRODH220.85967831392124253180318900741-18900753, 18904409-18904418, 18905978, 18908902, 18908907, 18923528-18923636, 18923659-18923671, 18923674, 18923687, 18923690-18923790, 18923799-18923800
442GP1BB22062162119711093-19711102, 19711377-19711987
443TBX1220.57459677419355633148819747167-19747179, 19748428-19748599, 19748608-19748685, 19748692-19748741, 19748778-19748803, 19753340-19753347, 19753433-19753460, 19753468-19753525, 19753912-19753973, 19753995-19753996, 19754005, 19754020-19754066, 19754084, 19754102-19754121, 19754125-19754127, 19754132, 19754159-19754164, 19754170, 19754190, 19754193-19754194, 19754214, 19754221, 19754266-19754272, 19754292-19754308, 19754315, 19754349-19754370, 19754387-19754390
444SMARCB1220.9775474956822126115824129408-24129416, 24134060-24134067, 24175825-24175833
445CHEK2220.9750141964792744176129083906-29083916, 29083948-29083965, 29085165-29085171, 29091837-29091844
446NF2220.9574944071588476178829999988-30000000, 30000018-30000037, 30000053-30000095
447MYH9220.9955804861465226588336688118-36688120, 36697580-36697602
448TRIOBP220.93279797125951477709838119745, 38119749, 38119754-38119757, 38119763, 38119766-38119767, 38119879-38119921, 38120029-38120052, 38120176-38120178, 38120426-38120440, 38121227, 38121596, 38121599-38121600, 38121751-38121752, 38121785-38121825, 38121856-38121857, 38121903-38121923, 38121968, 38121971, 38122026-38122050, 38122112-38122157, 38122255, 38122261, 38122316-38122327, 38122441-38122449, 38122462-38122464, 38129328, 38129332, 38129395-38129396, 38129404-38129419, 38130407, 38130437, 38130454, 38130465, 38130472, 38130521-38130539, 38130570-38130579, 38130587, 38130592-38130596, 38130612-38130631, 38130732, 38130757-38130759, 38130785, 38130842, 38130885, 38130893, 38130898, 38130921, 38130939-38130972, 38131011-38131050, 38131061, 38131078-38131079, 38131229, 38131241-38131247, 38131391-38131395, 38136916, 38153938-38153944, 38165154-38165179
449PLA2G6220.1615541922290441048938508274-38508312, 38508511-38508584, 38509494-38509515, 38509524-38509538, 38509554, 38509558-38509651, 38509658-38509717, 38509728, 38509738, 38509741, 38509745, 38509769-38509869
450PLA2G6220.7121024370095697242138508168-38508261, 38508269-38508312, 38508511-38508584, 38509494-38509515, 38509524-38509538, 38509554, 38509558-38509651, 38509658-38509661, 38511534-38511688, 38512092-38512129, 38512178-38512195, 38512204-38512218, 38516766-38516767, 38516834, 38516837-38516843, 38516876-38516912, 38519102-38519114, 38519137, 38519141, 38519165-38519201, 38519212, 38519255-38519265, 38525497, 38528964-38528969, 38528976-38528979, 38536084
451EP300220.999723947550032724541546105, 41546108
452TNFRSF13C220.4738738738738729255542321403-42321405, 42321416, 42321427-42321428, 42321438, 42321479-42321480, 42322148-42322160, 42322173-42322175, 42322184-42322187, 42322190-42322191, 42322199-42322279, 42322285-42322335, 42322642-42322701, 42322709-42322777
453CYB5R3220.976821192052982190643045301-43045321
454ATXN10220.9768907563025233142846067944-46067967, 46067991-46067994, 46068025-46068029
455TRMU220.947867298578266126646731669-46731676, 46731701-46731741, 46751372-46751381, 46751933, 46752859-46752864
456ALG12220.9366053169734293146750297609-50297615, 50301476, 50301566-50301576, 50303698-50303734, 50304156-50304192
457MLC1220.9179894179894293113450500029-50500064, 50502469, 50502484-50502485, 50502487-50502493, 50502520-50502526, 50502544, 50502567-50502571, 50502578-50502587, 50502593-50502595, 50502609-50502618, 50506941, 50506944, 50515902-50515910
458SCO2220.956304619225973580150962078-50962100, 50962511-50962521, 50962712
459TYMP220.52933057280883682144950964200-50964267, 50964276-50964347, 50964430-50964570, 50964675-50964682, 50964691-50964727, 50964746-50964772, 50964791-50964882, 50965013-50965017, 50965032, 50965036-50965041, 50965061-50965062, 50965065-50965080, 50965085, 50965091, 50965113-50965143, 50965149-50965150, 50965154, 50965163-50965167, 50965594-50965623, 50967637-50967677, 50967708-50967713, 50967733-50967767, 50967945, 50967951, 50968015, 50968018-50968022, 50968038-50968039, 50968074-50968117
460ARSA220.9849081364829423152451063674, 51063764-51063767, 51063825-51063827, 51064380-51064387, 51064429, 51065440-51065445
461SHANK3220.494851258581242649524451113070-51113132, 51113476-51113638, 51113656-51113679, 51115091-51115121, 51117013-51117121, 51117197-51117348, 51117447-51117614, 51117740-51117856, 51121768-51121845, 51123013-51123079, 51133211-51133246, 51133265-51133301, 51133335-51133338, 51133351-51133380, 51133444-51133455, 51133460-51133464, 51135671-51135719, 51135951-51136143, 51137118-51137147, 51137183-51137201, 51142358, 51142599, 51142605, 51143200-51143224, 51144500-51144522, 51144549-51144566, 51158612-51158640, 51158650-51158666, 51158694-51158743, 51158749-51158812, 51158832-51158907, 51158914-51158957, 51158963-51158966, 51158982, 51158986-51159079, 51159102-51159106, 51159115-51159116, 51159122-51159127, 51159153-51159189, 51159200-51159208, 51159223-51159345, 51159353-51159388, 51159416-51159476, 51159500-51159511, 51159614-51159629, 51159699-51159700, 51159771-51159817, 51159912, 51159925-51159940, 51159995-51160004, 51160037-51160058, 51160208-51160210, 51169192-51169258, 51169290-51169299, 51169318-51169364, 51169374, 51169384, 51169390, 51169402-51169432, 51169443-51169471, 51169482, 51169523-51169740
462VHL30.973520249221181764210183671-10183681, 10183791-10183796
463CRTAP30.99834162520732120633155943, 33155946
464TMIE30.7799564270152510145946742871-46742880, 46742920-46742930, 46742939, 46742943, 46742945, 46742954-46742960, 46742976, 46742985-46743028, 46743039-46743049, 46743064-46743070, 46747309-46747315
465TMIE30.847133757961787247146742985-46743028, 46743039-46743049, 46743064-46743070, 46747309-46747315, 46751074-46751076
466TREX130.9441441441441462111048508036-48508044, 48508130-48508137, 48508163, 48508166, 48508262, 48508326, 48508406-48508435, 48508616-48508623, 48508626-48508628
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468SLC25A2030.910596026490078190648897030-48897036, 48936129-48936134, 48936160-48936227
469LAMB230.993514915693935539749160381, 49161999-49162010, 49162467-49162468, 49162830-49162837, 49162875-49162883, 49163284-49163286
470AMT30.9859735973597417121249456449-49456451, 49459592-49459604, 49459608
471GNAT130.9135802469135891105350230826, 50230829, 50231092-50231096, 50231204-50231222, 50231555-50231572, 50231583, 50231599-50231639, 50231935, 50232306, 50232322, 50232356-50232357
472HYAL130.9663608562691144130850338124, 50338196-50338198, 50338427-50338441, 50338468-50338486, 50338494, 50338503, 50338506-50338508, 50339597
473TNNC130.965020576131691748652485531-52485541, 52486150-52486151, 52486240-52486241, 52486522-52486523
474TKT30.9658119658119764187253289852-53289890, 53289929-53289953
475FLNB30.9912920988602968780957994351-57994359, 57994391-57994420, 57994439-57994452, 58089784-58089798
476ATXN730.89887244538407287283863898275-63898396, 63898421-63898423, 63898426-63898587
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478CPOX30.9765567765567832136598312152-98312155, 98312190-98312197, 98312200-98312203, 98312278-98312293
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480FOXL230.8947833775421191131138664653-138664662, 138664696-138664702, 138664793-138664813, 138664819-138664845, 138664870-138664892, 138664904, 138665050, 138665083-138665096, 138665164, 138665215-138665228
481ALG330.97038724373576391317183961388, 183961763, 183966609-183966636, 183966640, 183966666-183966669, 183966703-183966705, 183966710
482CLCN230.97367445309603712697184069858, 184070107, 184071205, 184071209, 184071450, 184071504, 184072022-184072029, 184072036-184072037, 184072064-184072102, 184072340-184072342, 184072344-184072349, 184072361, 184072411, 184072445-184072446, 184075784-184075785, 184076593
483OPA130.999015748031533048193355020, 193355023-193355024
484CPN230.99389499389499101638194061826, 194061837-194061838, 194061923-194061925, 194062060, 194062362-194062364
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536SQSTM150.852607709750571951323179247937-179248101, 179248112-179248141
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539TUBB2B60.931240657698069213383225267, 3225409-3225431, 3225438-3225497, 3227721-3227728
540DSP60.997446610956362286167542238-7542256, 7542316-7542318
541ATXN160.9595588235294199244816327861-16327959
542ALDH5A160.9829993928354628164724495306-24495333
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544NEU160.996794871794874124831829799, 31829967-31829968, 31830553
545CFB60.999473822678242380131911914-31911915
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549HLA-DQB160.885496183206119078632629224-32629234, 32632575-32632653
550SYNGAP160.9826388888888970403233388042-33388108, 33411549, 33411658, 33411662
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553LHFPL560.99848484848485166035773448
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555PRPH260.999039385206531104142672170
556PEX660.999320421338772294342946650, 42946707
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558RUNX260.990421455938715156645390446-45390448, 45390467-45390469, 45390475-45390478, 45390487-45390490, 45390511
559MUT60.999112294718152225349409573-49409574
560PKHD160.99525562372188581222551929771-51929809, 51929817-51929835
561RIMS160.9960622169718420507972892345-72892356, 72892790-72892797
562PDSS260.98916666666667131200107780263-107780271, 107780307-107780310
563OSTM160.95820895522388421005108395591, 108395780, 108395784-108395811, 108395814-108395825
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570TWIST170.563218390804626660919156560-19156567, 19156573-19156607, 19156637-19156638, 19156643-19156649, 19156679-19156685, 19156689, 19156702-19156704, 19156709-19156726, 19156737, 19156740-19156773, 19156785-19156880, 19156891-19156944
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572GLI370.97343453510436126474342005448-42005464, 42005524-42005539, 42005558-42005600, 42005661-42005671, 42005678, 42005743-42005745, 42005865-42005899
573PGAM270.905511811023627276244104474, 44104477, 44104752-44104758, 44104766-44104768, 44104772, 44104782, 44104833-44104838, 44104852-44104870, 44104991-44105019, 44105125-44105128
574GCK70.9293361884368399140144185192-44185199, 44185230-44185233, 44186069-44186137, 44191870-44191883, 44193031-44193034
575CCM270.80898876404494255133545039933-45039962, 45113059-45113063, 45113089-45113151, 45113157-45113170, 45113869-45113880, 45113896-45113946, 45113957-45113977, 45113990-45114007, 45115431-45115440, 45115530-45115539, 45115546, 45115553, 45115594-45115597, 45115601, 45115612-45115617, 45115625, 45115631-45115637
576EGFR70.9936691439581623363355086971-55086977, 55086990-55086991, 55086995-55086997, 55087000-55087003, 55087044-55087050
577GUSB70.9846625766871230195665446978-65447000, 65447144-65447150
578ASL70.5921146953405569139565546836-65546842, 65547386, 65547435-65547438, 65547876-65547887, 65547913-65547917, 65548064-65548078, 65548103, 65548114, 65548117-65548124, 65551572-65551577, 65551630, 65551641, 65551731-65551767, 65552321-65552332, 65552372-65552373, 65552716-65552757, 65553794-65553806, 65553831-65553888, 65553894-65553899, 65553905-65553908, 65554078-65554162, 65554263-65554322, 65554599-65554619, 65554626-65554636, 65554644-65554656, 65554659, 65554680-65554682, 65556993-65556999, 65557050-65557073, 65557545, 65557555-65557588, 65557616-65557617, 65557755-65557780, 65557828-65557871, 65557883
579KCTD770.895402298850579187066094076-66094149, 66094176-66094192
580SBDS70.976095617529881875366456147-66456164
581NCF170.7878787878787917582572639951-72639990, 72640021-72640039, 72643611-72643648, 72643669-72643710, 72644230-72644236, 72648697, 72648723-72648750
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649LHX390.619520264681554601209139089184-139089189, 139089217-139089246, 139089273-139089298, 139089320-139089357, 139089376-139089407, 139089453-139089469, 139089520-139089526, 139090549-139090561, 139090608, 139090618-139090627, 139090644-139090660, 139090765-139090835, 139090845, 139090861-139090905, 139091594-139091607, 139091656-139091673, 139091686-139091726, 139094792-139094838, 139094846-139094863, 139094878-139094885
650INPP5E90.3452196382428912671935139325454-139325472, 139325536, 139326276-139326437, 139326931-139326935, 139326959, 139326962-139326968, 139326995-139327022, 139327408, 139327458-139327473, 139327484-139327527, 139327607-139327612, 139327652-139327731, 139328489-139328490, 139328504, 139328517-139328539, 139328555, 139328567-139328568, 139329192, 139329201, 139329208-139329233, 139329238-139329257, 139329265, 139329268, 139329281-139329315, 139333060-139333083, 139333113-139333871
651NOTCH190.1390193009911366027668139390523-139390543, 139390567-139390658, 139390682-139390723, 139390747-139390750, 139390763-139390768, 139390777-139390788, 139390806-139391068, 139391095-139391169, 139391197-139391675, 139391697-139391737, 139391746-139392010, 139393375-139393378, 139393415-139393448, 139393564-139393587, 139393610-139393711, 139395004-139395224, 139395235-139395299, 139396200-139396365, 139396453-139396481, 139396505-139396536, 139396724-139396727, 139396739, 139396743-139396750, 139396755-139396771, 139396777, 139396783-139396785, 139396798-139396800, 139396824-139396940, 139397634-139397750, 139397759-139397764, 139397772-139397782, 139399125-139399307, 139399323-139399556, 139399762-139399824, 139399844-139399896, 139399925-139400038, 139400057-139400102, 139400126-139400333, 139400979-139401091, 139401168-139401425, 139401757-139401779, 139401793-139401849, 139401863-139401889, 139402429-139402456, 139402461-139402463, 139402491, 139402496, 139402500, 139402504-139402508, 139402516-139402522, 139402540, 139402545-139402582, 139402685-139402721, 139402731-139402732, 139402736, 139402741-139402768, 139402775-139402790, 139402802-139402823, 139402835-139402837, 139403322-139403459, 139403481-139403523, 139404191-139404198, 139404213-139404223, 139404250-139404279, 139404282, 139404307-139404413, 139405105-139405222, 139405253-139405257, 139405604-139405611, 139405615-139405647, 139405686-139405723, 139407473-139407568, 139407576-139407586, 139407844-139407961, 139407982-139407989, 139408962-139409013, 139409021-139409065, 139409088-139409101, 139409116-139409136, 139409141-139409147, 139409154, 139409742-139409843, 139409935-139410000, 139410020-139410092, 139410132, 139410136-139410153, 139410166-139410168, 139410433-139410440, 139410450-139410546, 139411724-139411837, 139412204-139412389, 139412589-139412744, 139413047-139413131, 139413134, 139413154-139413191, 139413201-139413203, 139413212-139413276, 139413895-139414017, 139417302-139417640, 139418169-139418431, 139438476-139438490, 139438513-139438545, 139438548, 139440178-139440238
652AGPAT290.38351254480287516837139568204-139568214, 139568246-139568274, 139568292-139568311, 139568321-139568354, 139568379, 139569205, 139569217-139569221, 139569224, 139571065, 139571086, 139571110-139571127, 139571437-139571518, 139571531, 139571544-139571547, 139571554-139571588, 139571875-139571921, 139571956-139571994, 139572005-139572008, 139581628-139581809
653SLC34A390.468888888888899561800140127027-140127043, 140127054-140127055, 140127070-140127084, 140127125-140127141, 140127273-140127274, 140127309-140127310, 140127320, 140127367-140127379, 140127456-140127465, 140127492-140127518, 140127661-140127698, 140127770, 140127779-140127789, 140127800-140127801, 140128085-140128105, 140128118-140128152, 140128159-140128174, 140128315-140128393, 140128561-140128660, 140128681-140128728, 140128868-140128896, 140128905-140128921, 140128959-140128960, 140129071-140129080, 140130414-140130478, 140130493-140130868
654EHMT190.789068514241728223897140513481-140513501, 140605419-140605482, 140611078-140611634, 140622846, 140669646-140669648, 140671146, 140671160, 140671237-140671241, 140671267-140671275, 140672346, 140728802, 140728817-140728819, 140728835, 140728907, 140728921, 140728924, 140728952-140728976, 140729274-140729283, 140729290-140729405
655SHOXX0.45392491467577480879591633-591909, 595353-595368, 595375-595561
656CSF2RAX0.7356321839080534513051404671-1404699, 1404774-1404784, 1404806, 1409392-1409402, 1413244-1413264, 1413275-1413292, 1413335-1413354, 1419384-1419394, 1419414-1419447, 1419465-1419517, 1422154-1422247, 1422254-1422255, 1422816-1422853, 1422893, 1424417
657KAL1X0.994615761135581120438699981-8699991
658GPR143X0.951372549019616212759733664-9733706, 9733757-9733775
659PHKA2X0.999460625674222370818912422-18912423
660SMSX0.991825613079029110121958943-21958950, 21958953
661ARXX0.90349319123742163168925031438-25031471, 25031495-25031515, 25031545-25031583, 25031624-25031631, 25031639-25031688, 25031734-25031735, 25031764-25031770, 25031773, 25031895
662RPGRX0.72419774501301954345938144940-38144978, 38145025-38145028, 38145048-38145057, 38145113-38145119, 38145157-38145162, 38145187-38145216, 38145220-38145230, 38145245-38145779, 38145793-38145854, 38145867-38145905, 38145933-38145937, 38145961-38145969, 38145983-38146081, 38146192, 38146332, 38146344-38146349, 38146415-38146418, 38146465-38146489, 38147122-38147166, 38147231-38147246
663TSPAN7X0.973333333333332075038420800-38420819
664BCORX0.999620349278662526839931865-39931866
665ATP6AP2X0.998100664767332105340440324-40440325
666NYXX0.66597510373444483144641332755-41332763, 41332789, 41332793-41332804, 41332827-41332845, 41332851-41332852, 41332871-41332872, 41332877, 41332882, 41332885, 41332900-41332901, 41332953-41332956, 41333036-41333060, 41333072-41333073, 41333093-41333123, 41333203-41333209, 41333217-41333392, 41333406-41333426, 41333445-41333484, 41333506-41333510, 41333536-41333559, 41333588-41333592, 41333677, 41333679-41333684, 41333696-41333704, 41333806-41333851, 41333956-41333972, 41334045-41334058
667CASKX0.999276934201012276641782211-41782212
668SYN1X0.999527856468371211847433511
669FTSJ1X0.9979797979798299048341117, 48341125
670FOXP3X0.999228395061731129649110518
671FGD1X0.9993069993072288654494254, 54521856
672ARX0.9960188201230511276366765159-66765163, 66766357-66766362
673DLG3X0.999592502037491245469665358
674MED12X0.9984695439240910653470360648-70360650, 70360665, 70361098-70361103
675NLGN3X0.999195818254932248770368042-70368043
676TAF1X0.98187258007744103568270586165-70586261, 70586289, 70586340-70586344
677SLC16A2X0.9929424538545113184273641389-73641401
678BRWD3X0.999075614716215540979991587, 80064940-80064943
679CHMX0.9943934760448511196285128145-85128155
680PCDH19X0.9936479128856621330699663439-99663447, 99663560-99663562, 99663570-99663578
681XIAPX0.9993306559571611494123025132
682GPC3X0.9954102122776881743133119359, 133119438-133119444
683ZIC3X0.99715099715141404136648910, 136648985-136648987
684SOX3X0.92915734526473951341139585931-139585940, 139585998-139585999, 139586141-139586152, 139586181-139586186, 139586472-139586502, 139586511-139586526, 139586858-139586875
685FAM58AX0.9455782312925240735152864475, 152864483-152864521
686SLC6A8X0.818658280922433461908152954030-152954273, 152954284-152954291, 152956759, 152957491-152957516, 152958817, 152959635-152959642, 152959648, 152959863, 152960006-152960032, 152960196-152960206, 152960240-152960250, 152960561-152960567
687ABCD1X0.842716711349423522238152990734-152990752, 152990765-152990821, 152990833-152990851, 152990890-152990919, 152990962-152990984, 152990999-152991029, 152991054-152991057, 152991062-152991073, 152991090-152991131, 152991153-152991166, 152991223-152991225, 152991245-152991262, 152991276-152991279, 152991290, 152991358, 152991370, 152991373, 152991392, 152991437-152991463, 152991561-152991568, 153001814, 153002611-153002614, 153008731, 153008788, 153009033-153009046, 153009141-153009155
688L1CAMX0.955484896661371683774153128943-153128947, 153129003-153129004, 153130134-153130142, 153130761-153130765, 153133534, 153134998-153135005, 153135030-153135032, 153135043-153135048, 153135051, 153135308-153135316, 153135321-153135323, 153135354-153135371, 153135375-153135382, 153135536-153135554, 153135593-153135603, 153135875-153135903, 153136257-153136259, 153136512, 153136547-153136550, 153136616-153136619, 153136623-153136626, 153141260-153141265, 153141281-153141289
689AVPR2X0.93906810035842681116153171079-153171119, 153171394-153171411, 153171533-153171536, 153172085-153172089
690MECP2X0.94522378089512821497153295973, 153296208-153296212, 153297852, 153297868-153297880, 153363061-153363122
691OPN1LWX0.95159817351598531095153418453-153418471, 153418511-153418544
692OPN1MWX0.92602739726027811095153453340, 153455641-153455674, 153458971, 153459039-153459083
693OPN1MWX0.91050228310502981095153490458, 153492704, 153492708, 153492716, 153492759-153492786, 153496089, 153496092-153496107, 153496121, 153496125, 153496157-153496201, 153498544, 153498558
694FLNAX0.882049345417939377944153577292-153577308, 153577774, 153577818-153577820, 153578418, 153579969-153579971, 153580295-153580298, 153580325-153580372, 153580692-153580696, 153581036-153581043, 153581167, 153581471-153581485, 153581568, 153581715, 153581723, 153581726, 153581930-153581932, 153582021-153582023, 153582987-153583036, 153583065-153583067, 153583220, 153583337-153583348, 153585630-153585638, 153585821-153585825, 153585872, 153585875, 153585881-153585882, 153585926-153585933, 153586625, 153586632-153586651, 153586837-153586843, 153587632, 153587635, 153587660-153587665, 153587852-153587857, 153587913-153587953, 153587977, 153588104-153588116, 153588149-153588155, 153588191-153588214, 153588222-153588236, 153588240, 153588257-153588273, 153588358-153588374, 153588400-153588422, 153588571-153588598, 153588628-153588677, 153588824-153588918, 153589825-153589841, 153590467-153590476, 153590866, 153590906, 153592459, 153592974-153592982, 153593784-153593800, 153593813-153593817, 153594696, 153594930-153594945, 153595124-153595125, 153595128, 153595765-153595767, 153595832, 153596026, 153596212-153596223, 153596226-153596230, 153596233, 153596266-153596313, 153599241-153599244, 153599266-153599276, 153599339-153599340, 153599351-153599386, 153599395-153599414, 153599439-153599442, 153599460-153599486, 153599489-153599495, 153599503-153599574, 153599594-153599613
695EMDX0.83790849673203124765153607861-153607872, 153607895-153607909, 153608050-153608071, 153608090-153608140, 153609517-153609528, 153609531-153609542
696TAZX0.86438529784537107789153640185-153640229, 153640254-153640260, 153640286-153640289, 153640468-153640504, 153640520-153640533
697G6PDX0.914529914529911401638153760215-153760238, 153760297-153760305, 153760403-153760405, 153760462-153760464, 153760481, 153760610-153760646, 153760654, 153760905-153760906, 153761178, 153761198, 153761211, 153761265-153761271, 153761799-153761802, 153762659-153762662, 153764191, 153775028-153775053, 153775070-153775084
698IKBKGX0.9993169398907111464153788750
VariantPhase/
Zygosity
Allele freqImpactEvaluationSummary / Info
3COL4A1-Q1334Hhet unknown0.325Dominant
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.16 (benign), Testable gene in GeneTests with associated GeneReview
3COL4A1-T555Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2.5POLG-P587Lhet unknown0.002Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
2.5POLG-T251Ihet unknown0.002Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
2TP53-P72Rhomozygous0.628Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.127 (benign), Testable gene in GeneTests with associated GeneReview
2PCSK9-V474Ihomozygous0.817Unknown
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
2ALAD-K59Nhet unknown0.059Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-A4481Thet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-S4338Nhet unknown0.802Unknown
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-P2739Lhet unknown0.197Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-I2313Vhomozygous0.981Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-Y1422Chomozygous1.000Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-A618Vhomozygous0.366Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1.5GCNT2-A169Thet unknown0.004Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1.5GCNT2-D272Ehomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5CILP-G1166Shomozygous0.734Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5CILP-Q979Rhomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5CILP-K575Ehomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5CILP-I395Thomozygous0.632Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5EPHB2-D679Nhet unknown0.006Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1.25PRODH-R521Qhomozygous0.904Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1.25PRODH-R431Hhet unknown0.080Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1.25PRODH-W185Rhomozygous0.675Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1.25PRODH-A52Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1KCP-Q650Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
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
1PLEKHA2-P389Shifthomozygous0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1PIK3R6-L609ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
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
1CNGA1-S3FhomozygousUnknown
not reviewed
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
1GTF2E1-P366Shomozygous0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.984 (probably damaging)
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
1NHLRC1-P111Lhomozygous0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.992 (probably damaging), Testable gene in GeneTests with associated GeneReview
1TAS2R38-I296Vhomozygous0.463Unknown
benign
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.984 (probably damaging)
1TAS2R38-A49Phet unknown0.431Unknown
benign
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ATG9B-A765ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ARMS2-R38*het unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Nonsense mutation, Testable gene in GeneTests
1ARMS2-A69Shet unknown0.207Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1KIAA1671-P205Thet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
1KIAA1671-K439RhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.872 (probably damaging)
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
1B3GNT6-L316ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1B3GNT6-L335ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF167-N494ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1NPC1-I858Vhet unknown0.445Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.061 (benign), Testable gene in GeneTests with associated GeneReview
1NPC1-M642Ihet unknown0.738Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1NPC1-H215Rhet unknown0.296Complex/Other
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CASR-R990Ghet unknown0.064Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.939 (probably damaging), Testable gene in GeneTests
1CASR-E1011Qhomozygous0.916Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1AP1S2-T35AhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1AP1S2-R29PhomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1TGIF1-P83Shifthet unknown0.139Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests with associated GeneReview
1TGIF1-P292Lhet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-Q256Rhet unknown0.221Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-R162Qhet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-G157Shet unknown0.191Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-V148Ihet unknown0.180Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-D89Vhomozygous0.232Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-A70Vhet unknown0.246Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-Y62Hhomozygous0.274Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-L58Ghet unknown0.132Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-M46Lhet unknown0.124Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-F41Yhomozygous0.782Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-L28Shet unknown0.375Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-M24Ihet unknown0.197Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-A6Shet unknown0.194Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-V17Mhet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-D25Ghet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-Q57Ehet unknown0.265Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-M230Vhet unknown0.700Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1FAM200A-R118Phomozygous0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.988 (probably damaging)
1GABRG2-I215VhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1HSH2D-S223Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1HLA-L-H17Rhomozygous0.260Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HLA-L-I30Vhomozygous0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HLA-L-R38ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1HLA-L-A142Vhomozygous0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HLA-L-W144*homozygous0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
1HLA-L-C172Yhomozygous0.253Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1MS4A14-I56ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1MS4A14-N177Yhomozygous0.640Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.981 (probably damaging)
1MS4A14-G584Rhomozygous0.574Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
1IL7R-I66Thet unknown0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1IL7R-V138Ihet unknown0.745Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1IL7R-T244Ihet unknown0.210Unknown
protective
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1KCNJ11-V337Ihet unknown0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1KCNJ11-K23Ehet unknown0.738Unknown
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
1SP110-L425Shet unknown0.863Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SP110-G299Rhomozygous0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SP110-W112Rhet unknown0.917Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1NR_027127-W61*homozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
1GSTM1-K173Nhomozygous0.264Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1ABCC6-H632Qhet unknown0.448Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ABCC6-V614Ahet unknown0.458Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ABCC6-R265Ghet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HRNR-A2764Shomozygous0.096Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-H2762Qhomozygous0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1HRNR-R2761Qhomozygous0.370Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-HR2748QHhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1HRNR-Y2746Hhomozygous0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-S799Thomozygous0.725Unknown
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-H273Qhomozygous0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-R85Hhomozygous0.726Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.078 (benign)
1HRNR-M1ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1NR_027251-H75ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1AX746964-G175Shifthomozygous0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1GBA-E365Khet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TOR1A-D216Hhet unknown0.103Unknown
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.205 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1TLR5-F822Lhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1TLR5-F616Lhet unknown0.334Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.011 (benign)
1TLR5-R392*het unknown0.044Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
1TLR5-Q181Khet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TCEAL6-Q175Shifthomozygous0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1PADI6-R207Qhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1PADI6-V343Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1DGKK-D1111Nhet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1DGKK-L1014ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1BC112980-K147ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1DPYD-R29Chomozygous0.714Complex/Other
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1MOSPD2-S240Nhomozygous0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.902 (probably damaging)
1GPR98-L1093Fhet unknown0.731Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1GPR98-I1647Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1GPR98-V1951Ihet unknown0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1GPR98-P1987Lhet unknown0.302Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.366 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1GPR98-Y2232Chet unknown0.316Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.989 (probably damaging), Testable gene in GeneTests with associated GeneReview
1GPR98-N2345Shet unknown0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
1GPR98-N2584Shet unknown0.735Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1GPR98-A2803Thet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests with associated GeneReview
1GPR98-E3471Khet unknown0.758Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1GPR98-E3867Khet unknown0.250Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1GPR98-E5344Ghomozygous0.937Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
1GPR98-V5427Mhomozygous0.972Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
1F5-Q534Rhomozygous0.978Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1GPHB5-F53Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1CFH-V62Ihet unknown0.392Complex/Other
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CFH-H402Yhet unknown0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HADHB-T2TThomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1FAM201A-Q115*homozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.875MTRR-I49Mhet unknown0.451Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.875MTRR-K377Rhet unknown0.208Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.875MTRR-H622Yhet unknown0.174Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75BLMH-I443Vhet unknown0.285Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75ADD1-G460Whet unknown0.157Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.995 (probably damaging)
0.75ADD1-S617Chet unknown0.181Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75ANKK1-A239Thet unknown0.228Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.852 (probably damaging)
0.75ANKK1-G442Rhet unknown0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75ANKK1-E713Khet unknown0.237Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75BANK1-R61Hhet unknown0.283Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75BANK1-A383Thet unknown0.295Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.778 (possibly damaging)
0.75BANK1-C650Rhomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75ITGAM-R77Hhet unknown0.105Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.048 (benign)
0.75ITGAM-A859Vhet unknown0.163Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75ITGAM-P1147Shet unknown0.162Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75EDN1-K198Nhet unknown0.206Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.625ERCC6-Q1413Rhet unknown0.189Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview
0.625ERCC6-R1213Ghet unknown0.197Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.625ERCC6-M1097Vhet unknown0.190Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PNPO-R116Qhet unknown0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.953 (probably damaging), Testable gene in GeneTests
0.5TBX21-H33Qhet unknown0.013Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.251 (possibly damaging)
0.5DHX58-Q425Rhet unknown0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DHX58-R95Qhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.296 (possibly damaging)
0.5SALL1-V1275Ihomozygous0.988Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5APH1B-F217Lhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.865 (probably damaging)
0.5SLC7A6OS-Y220Chet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.986 (probably damaging)
0.5SLC7A6OS-G45Dhomozygous0.637Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CETP-V422Ihomozygous0.589Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FBN1-C472Yhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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)
0.5COL1A1-T1075Ahomozygous0.971Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
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
0.5JUP-M697Lhomozygous0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5JUP-R142Hhet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZNF276-W263Rhet unknown0.370Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.776 (possibly damaging)
0.5ZNF276-R351Whet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging)
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-L408Fhet unknown0.329Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.937 (probably damaging)
0.5HAP1-S357Lhet unknown0.716Unknown
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)
0.5MAP2K3-P40Thet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.968 (probably damaging)
0.5MAP2K3-R55Thet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MAP2K3-S68Phet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.029 (benign)
0.5MAP2K3-A84Thet unknown0.231Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MAP2K3-R94Lhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.992 (probably damaging)
0.5MAP2K3-R96Whet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.5MAP2K3-Q102*het unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.5MAP2K3-L215Whet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5MAP2K3-R293Hhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.338 (possibly damaging)
0.5MAP2K3-V339Mhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.815 (possibly damaging)
0.5MYH1-R1272Whet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5NOD2-P268Shomozygous0.197Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NOD2-L1007Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
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
0.5NR_027336-P160Lhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NR_027336-V73Fhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NR_027336-W23*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5KIAA1024-N258Hhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.914 (probably damaging)
0.5HEXA-I436Vhomozygous0.867Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5UNC45B-V60Ihet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5HYDIN-E4159Qhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-K4087Rhet unknown0.206Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-A4025Thet unknown0.190Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-T4004Ahet unknown0.432Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-Q3904Shifthet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.5HYDIN-V3898Mhet unknown0.198Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-M3868Rhet unknown0.306Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-V3839Lhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-V3741Ihet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-A3738Thet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-R3480Whet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HYDIN-L3315Phet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-A3290Phet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-T3115Rhet unknown0.316Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-I2693Shet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-K2588Rhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-D2569Nhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-G2557Ehet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-K2529Ehet unknown0.135Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-T2520Lhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HYDIN-L2501Shet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-P2454Qhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HYDIN-N2444Ihet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HYDIN-E2305Ghet unknown0.599Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.988 (probably damaging)
0.5HYDIN-R2297Ghet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.997 (probably damaging)
0.5HYDIN-Q2275Rhet unknown0.125Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.955 (probably damaging)
0.5HYDIN-Q2241Rhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HYDIN-V2098Mhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HYDIN-R2086Chet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.998 (probably damaging)
0.5HYDIN-R2017Hhet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
0.5HYDIN-I1533Vhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HYDIN-V1228Lhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-I1077Vhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.082 (benign)
0.5HYDIN-N724Dhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.955 (probably damaging)
0.5HYDIN-T690Ahet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.955 (probably damaging)
0.5DNAH2-T3600Ihet unknown0.651Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DNAH2-P4325Rhet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5NR2E3-T318Shifthomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift, Testable gene in GeneTests
0.5CCDC55-K86Thet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.932 (probably damaging)
0.5GRAMD2-Y329Hhet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5GRAMD2-A23Thet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.16 (benign)
0.5ICAM1-K469Ehomozygous0.349Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SCN4A-S524Ghomozygous0.916Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OTOF-R82Chomozygous0.365Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
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
0.5ALK-I1461Vhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5XDH-I703Vhet unknown0.064Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.336 (possibly damaging), Testable gene in GeneTests
0.5XDH-I646Vhet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KLF11-Q62Rhet unknown0.094Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.986 (probably damaging), Testable gene in GeneTests
0.5TPO-A373Shomozygous0.404Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5ETFB-P52Lhet unknown0.061Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZNF480-C3Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ZNF813-S146Lhomozygous0.239Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.07 (benign)
0.5ZNF813-K446Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ZNF544-Q700Rhet unknown0.538Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.5ZNF544-R708Whet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5LILRB3-R465Lhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5LILRB3-H61Dhomozygous0.886Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LILRB3-Q56Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5LILRB3-Q53Lhomozygous0.864Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5THADA-C1605Yhomozygous0.108Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.387 (possibly damaging)
0.5THADA-T1187Ahomozygous0.156Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.384 (possibly damaging)
0.5SLC3A1-M618Ihomozygous0.542Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5LCT-N1639Shomozygous0.612Unknown
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
0.5NEB-I6534Vhet unknown0.422Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-A6277Phet unknown0.631Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-R4389Thet unknown0.648Unknown
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-G3034Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-K2613Nhomozygous0.351Unknown
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
0.5SCN2A-R19Khet unknown0.058Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.956 (probably damaging), Testable gene in GeneTests
0.5ABCB11-V444Ahomozygous0.603Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), 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
0.5CFC1-W78Rhomozygous0.966Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GLI2-A1156Shomozygous0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GLI2-D1306Nhomozygous0.678Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCEE-A76Vhomozygous0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-S524SPhomozygous0.578Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-V671Ghomozygous0.881Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-R4029Khomozygous0.540Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MOGS-V62Mhet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.018 (benign), Testable gene in GeneTests with associated GeneReview
0.5NPHP1-P39Thet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.052 (benign), Testable gene in GeneTests with associated GeneReview
0.5LOXL3-R375Hhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.925 (probably damaging)
0.5BCAT2-Q100Ehet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.28 (possibly damaging), Testable gene in GeneTests
0.5CCDC114-R46Whet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5ATP8B1-A1152Thomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH19-G645Ahet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5CD226-S307Ghomozygous0.451Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ADAMTS10-H1101Qhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYO5B-K307Nhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO5B-T126Ahomozygous0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DSC3-R102Khomozygous0.327Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DSC3-S78Thomozygous0.325Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.314 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5DNAI2-A558Thomozygous0.767Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, 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
0.5ACOX1-I312Mhomozygous0.505Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ACOX1-N2Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LAMA3-N2815Khet unknown0.152Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LAMA3-S2834Ghomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ANKRD12-K906Rhomozygous0.542Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.956 (probably damaging)
0.5ANKRD12-L998Shet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ZNF562-N301Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ZNF562-G141Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5TSPAN16-S233Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PRX-G1132Rhomozygous0.955Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRX-P1083Rhomozygous0.130Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.793 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5PRX-I921Mhomozygous0.364Unknown
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
0.5TGFB1-P10Lhomozygous0.648Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZNF224-M118Vhomozygous0.872Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF224-H162Lhomozygous0.879Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.262 (possibly damaging)
0.5ZNF224-T177Mhet unknown0.086Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.995 (probably damaging)
0.5ZNF224-K640Ehomozygous0.713Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CARD8-V43Shifthet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5SIX5-P635Shet unknown0.401Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.891 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5DLL3-L218Phomozygous0.593Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NPHS1-E117Khomozygous0.227Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests
0.5ZNF844-K226Ehomozygous0.142Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF844-T276Ahomozygous0.244Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF844-A308Phomozygous0.244Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF844-I642Mhomozygous0.244Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF844-V658Ihet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5NOTCH3-A2223Vhomozygous0.730Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRC25-P294Shet unknown0.722Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.992 (probably damaging)
0.5LRRC25-C285Yhet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5PRODH2-R525Qhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.871 (probably damaging), Testable gene in GeneTests
0.5ZNF208-L1165Hhomozygous0.625Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF208-D907Ghomozygous0.589Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.975 (probably damaging)
0.5ZNF208-E282Khomozygous0.584Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.963 (probably damaging)
0.5ZNF208-L272Fhet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.949 (probably damaging)
0.5COCH-T352Shomozygous0.509Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DUOX2-P982Ahet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DUOX2-R701Qhet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DUOX2-H678Rhet unknown0.182Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DUOX2-P138Lhet unknown0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CHAT-V461Mhomozygous0.961Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PCDH15-R934Qhet unknown0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PCDH15-N642Shet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PCDH15-D440Ahet unknown0.131Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-G488Ahet unknown0.122Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-N1349Dhomozygous0.813Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-A1572Thomozygous0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-V1672Ihomozygous0.139Unknown
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
0.5USP54-G1514Ahet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.924 (probably 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)
0.5CUBN-E3002Ghet unknown0.140Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-I2984Vhet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-A2914Vhet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
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-L2153Fhet unknown0.122Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-S1935Ghet unknown0.145Unknown
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-P389Thomozygous0.588Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-F253Shet unknown0.703Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LYST-T1982Ihet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5MTR-R52Qhet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.136 (benign), Testable gene in GeneTests with associated GeneReview
0.5RYR2-A1136Vhet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RPP38-A181Ghet unknown0.416Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RPP38-I212Thet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5OPTN-D33Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
0.5OPTN-K322Ehomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ANXA11-R230Chomozygous0.341Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.5STAMBPL1-E204Khet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.97 (probably damaging)
0.5SLC6A5-G102Shomozygous0.369Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-F124Shomozygous0.799Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-A162Ghomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALX4-R35Thet unknown0.419Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5PEX16-V116Ihomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PEX16-V103Mhet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
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
0.5ROM1-L114Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
0.5ROM1-G118Ahomozygous0.938Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests
0.5SBF2-E679Khet unknown0.077Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SBF2-T672Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TRPM5-V335Lhet unknown0.084Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging)
0.5NOC3L-P444Rhet unknown0.065Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.061 (benign)
0.5NOC3L-E45Ghet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
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
0.5ABCC2-I1036Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCC2-L1211Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5COL17A1-M703Vhomozygous0.715Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-T210Mhet unknown0.580Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KNDC1-A128Shet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.076 (benign)
0.5KNDC1-E436Ghet unknown0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KNDC1-C603Yhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.986 (probably damaging)
0.5DMBT1-P42Thomozygous0.676Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.941 (probably damaging)
0.5DMBT1-S54Lhomozygous0.676Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.84 (possibly damaging)
0.5DMBT1-I1055Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5DMBT1-H1084Yhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5DMBT1-S1095Phet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.754 (possibly damaging)
0.5DMBT1-S1102Thet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.445 (possibly damaging)
0.5AGT-M268Thomozygous0.561Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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-R2529Qhet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.989 (probably damaging)
0.5OBSCN-R2812Whet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5OBSCN-ES3372DChet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5OBSCN-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-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-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)
0.5FAM151A-G526Ahet unknown0.085Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAM151A-S453Lhet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.036 (benign)
0.5FAM151A-K79Nhet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.874 (probably damaging)
0.5FAM151A-R64Qhet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.021 (benign)
0.5ALG6-S306Fhomozygous0.738Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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)
0.5PTPN22-W620Rhomozygous0.934Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5COL11A1-S1547Phomozygous0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL11A1-D46Ehomozygous0.100Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CPT2-V368Ihomozygous0.456Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CPT2-M647Vhet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.462 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5POMGNT1-M623Vhomozygous0.940Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MTHFR-A222Vhet unknown0.272Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.858 (probably damaging), Testable gene in GeneTests
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-A1503Vhet unknown0.694Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSPG2-R1090Qhet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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
0.5HSPG2-T361Nhet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
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
0.5COL9A2-L335Vhet unknown0.098Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SPOCD1-G813Rhet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5SPOCD1-Q355Rhet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.509 (possibly damaging)
0.5SPOCD1-T349Ahet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.312 (possibly damaging)
0.5SPOCD1-T109Ahet unknown0.669Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.5SPOCD1-R71Whet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.974 (probably damaging)
0.5NGF-A35Vhomozygous0.370Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.123 (benign), Testable gene in GeneTests
0.5NES-P1275Lhomozygous0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NES-R1133Shet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.914 (probably damaging)
0.5NES-P1101Lhomozygous0.554Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.961 (probably damaging)
0.5NES-SW51PRhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5USH2A-E3912Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-M3868Vhet unknown0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-T3835Ihet unknown0.203Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.157 (benign), Testable gene in GeneTests with associated GeneReview
0.5USH2A-E3411Ahet unknown0.573Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-I2106Thet unknown0.698Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-R1486Khomozygous0.607Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.063 (benign), Testable gene in GeneTests with associated GeneReview
0.5USH2A-A125Thomozygous0.719Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SPATA17-N16Shet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5SPATA17-A82Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5LBR-S154Nhomozygous0.704Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRSS38-A123Dhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.989 (probably damaging)
0.5PRSS38-M204Vhomozygous0.836Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5EPHX1-Y113Hhet unknown0.257Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5EPHX1-H139Rhet unknown0.248Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CHIT1-V357V*het unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation, Testable gene in GeneTests
0.5ASPM-L2647Ihet unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ASPM-S2562Ghet unknown0.317Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ASPM-Y2494Hhomozygous0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PEAR1-S234Phomozygous0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PEAR1-S381Fhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.978 (probably damaging)
0.5ETV3L-R151Whet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.854 (probably damaging)
0.5ARHGAP30-R1017Qhet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5ARHGAP30-L591Vhet unknown0.491Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.011 (benign)
0.5HMCN1-I2418Thomozygous0.525Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.468 (possibly damaging), Testable gene in GeneTests
0.5HMCN1-E2893Ghomozygous0.554Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.91 (probably damaging), Testable gene in GeneTests
0.5NCF2-K181Rhomozygous0.433Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IGHMBP2-L201Shomozygous0.777Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IGHMBP2-T671Ahomozygous0.246Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO7A-L16Shomozygous0.470Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYO7A-S1666Chet unknown0.588Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYO7A-L1954Ihet unknown0.549Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYH6-A1130Thet unknown0.083Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYH6-V1101Ahomozygous0.461Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PCK2-Q121Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GMPR2-G242Dhet unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
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-D1279Ahet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5LRP2-E787Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NR_028064-G139Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5SPERT-S286*het unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5SPERT-K329Ehet unknown0.599Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SGCG-N287Shomozygous0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
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-A899Thet unknown0.680Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PARP4-S873Nhet unknown0.191Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PARP4-F215Yhet unknown0.123Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PARP4-I81Vhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5CENPJ-M21Vhet unknown0.124Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5BRCA2-N372Hhet unknown0.237Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BRCA2-V2466Ahomozygous0.977Dominant
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NUPL1-A34Thomozygous0.396Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NUPL1-S166Phet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.514 (possibly damaging)
0.5C14orf104-D768Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5C14orf104-E62Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TXNDC16-A578Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TXNDC16-E486Khomozygous0.179Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.011 (benign)
0.5TXNDC16-A180Ghet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.5CHGA-G382Shet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5CHGA-R399Whet unknown0.105Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PACS2-P714Lhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5OCA2-R419Qhet unknown0.057Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5STRC-Q84Rhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TRPM1-V1395Ihet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, 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
0.5GALC-T641Ahomozygous0.959Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GALC-I562Thet unknown0.524Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.167 (benign), Testable gene in GeneTests with associated GeneReview
0.5GALC-D248Nhet unknown0.115Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.972 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5GALC-A21Phet unknown0.086Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.163 (benign), Testable gene in GeneTests with associated GeneReview
0.5TSHR-E727Dhomozygous0.920Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SYNE2-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
0.5FAM71D-T197Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
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-P844Lhet unknown0.443Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5MLH3-N826Dhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HEATR4-R191Chet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5SKA3-D335Ehet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.986 (probably damaging)
0.5SKA3-A28Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HPD-T33Ahomozygous0.902Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SNX19-L878Rhomozygous0.809Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-N753Shomozygous0.633Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-L618Fhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-V361Lhomozygous0.712Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
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
0.5DCP1B-N195Dhet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.859 (probably damaging)
0.5VWF-V1565Lhet unknown0.059Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.038 (benign), Testable gene in GeneTests with associated GeneReview
0.5VWF-T1381Ahomozygous0.712Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-R976Hhet unknownUnknown
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-T789Ahet unknown0.431Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview
0.5NDUFA9-P294Lhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5ROBO3-D284Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ROBO3-L874Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FXYD2-E68Ghomozygous0.474Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FXYD2-A67Vhet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TYR-S192Yhet unknown0.271Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.919 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5TRPC6-P15Shet unknown0.061Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MMP8-Q450*het unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Nonsense mutation
0.5MMP8-K87Ehet unknown0.551Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5MMP8-T32Ihet unknown0.621Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ATM-N1983Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NPAT-N999Khet unknown0.070Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging)
0.5NPAT-V575Ihomozygous0.596Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CLECL1-S52Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
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)
0.5SLCO1B3-G256Ahet unknown0.115Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.981 (probably damaging)
0.5ITGA7-R279Hhet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZBTB39-C276Rhet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
0.5LYZ-T88Nhet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.923 (probably damaging), Testable gene in GeneTests
0.5HNF1A-I27Lhet unknown0.260Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HNF1A-S487Nhet unknown0.246Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ACAD10-A911Vhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5KRT4-Q230Rhet unknown0.294Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRT4-G160GAGGFGAGFSTGGFGhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRT4-G160GAGGFGAGFSTGGFGhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRT4-A146Vhet unknown0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRT6B-Y497Chet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GYS2-M363Vhomozygous0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LRRK2-R50Hhomozygous0.964Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-M2397Thomozygous0.614Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VDR-M1Thet unknown0.676Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.5MLL2-S4010Phet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MLL2-R83Qhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5COL2A1-V1331Ihet unknown0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL2A1-T9Shomozygous0.791Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DHDH-S66Nhet unknown0.380Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DHDH-A173Shifthet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5DHDH-V247Ahet unknown0.329Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DHDH-E294Shifthet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5OPA1-S158Nhomozygous0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
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
0.5FLT4-R1324Lhet unknown0.090Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
0.5JARID2-R492Chet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.854 (probably damaging)
0.5NSD1-V614Lhet unknown0.102Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NSD1-S726Phet unknown0.129Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.92 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5MSX2-M129Thomozygous0.753Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PDE11A-S921SShomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PDE11A-Y727Chet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5PDE11A-R184Qhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC26A2-I574Thomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TCOF1-A1353Vhomozygous0.214Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NIPAL4-R213Ghet unknown0.449Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5NIPAL4-S453Lhet unknown0.089Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5ALDH5A1-H180Yhet unknown0.374Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALDH5A1-P182Lhet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZNF204P-K6Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
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
0.5PKHD1-Q4048Rhet unknown0.524Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-Q3899Rhomozygous0.522Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-L1870Vhomozygous0.952Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-T579Mhet unknownUnknown
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
0.5TULP1-K261Nhomozygous0.844Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC39A7-G124Rhet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.961 (probably damaging)
0.5HLA-H-E47Khet unknown0.061Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HSPA1L-E602Khomozygous0.237Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HSPA1L-T493Mhomozygous0.873Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5TNXB-R3209Ghet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-K3015Rhet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-R2704Hhet unknown0.098Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-G2518Ehet unknown0.685Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-P2412Lhet unknown0.099Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-H1161Rhet unknown0.477Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL11A2-P1722Lhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SPINK5-Q267Rhomozygous0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-A335Vhomozygous0.440Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-S368Nhomozygous0.428Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-K420Ehomozygous0.433Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-R711Qhomozygous0.545Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC25A2-V226Ihet unknown0.178Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC25A2-Y44Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ENAM-S1107Nhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FAM175A-D373Nhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.899 (probably damaging)
0.5FAM175A-A348Thet unknown0.324Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.16 (benign)
0.5AGPAT9-R386Khet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5ADH1B-H48Rhomozygous0.963Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5UGT2B7-Y268Hhomozygous0.207Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TLR6-V427Ahet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TLR6-S249Phomozygous0.695Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5POLN-P315Shet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.688 (possibly damaging)
0.5EVC-T449Khomozygous0.852Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EVC-R576Qhet unknown0.309Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests
0.5ZCCHC4-D72Hhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.953 (probably damaging)
0.5ZCCHC4-L396Hhomozygous0.920Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
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)
0.5HADH-L86Phomozygous0.847Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CFI-T300Ahomozygous0.965Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ARSB-S384Nhet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.171 (benign), Testable gene in GeneTests
0.5ARSB-V358Mhet unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.117 (benign), Testable gene in GeneTests
0.5PCSK1-S690Thet unknown0.235Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.061 (benign), Testable gene in GeneTests
0.5PCSK1-Q665Ehet unknown0.247Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5APC-V1822Dhomozygous0.826Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CEP120-R947Hhet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5CEP120-L602Vhet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AP3B1-V585Ehomozygous0.932Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5F2RL2-M177Vhet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.627 (possibly damaging)
0.5NR3C2-V180Ihomozygous0.899Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FAM160A1-P994Rhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.926 (probably damaging)
0.5TDO2-N229Hhet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.851 (probably damaging)
0.5DNAH5-I4450Vhomozygous0.528Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH5-A4134Vhet unknown0.461Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH5-T3791Ihet unknown0.092Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-Q2463Rhet unknown0.204Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-T558Ahomozygous0.330Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.791 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-H12Qhet unknown0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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
0.5CD109-Y703Shet unknown0.559Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CD109-N797Shet unknown0.394Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5CD109-G828Ehet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5CD109-V845Ihet unknown0.393Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.5CD109-T1241Mhet unknown0.396Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.014 (benign)
0.5AIM1-E1196Ahomozygous0.930Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.015 (benign)
0.5GSDMC-M475Thet unknown0.602Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GSDMC-P23Shet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging)
0.5DOCK8-A22Vhomozygous0.317Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.009 (benign), Testable gene in GeneTests
0.5DOCK8-P97Thet unknown0.465Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests
0.5DOCK8-A597Vhet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.96 (probably damaging), Testable gene in GeneTests
0.5DNAI1-A8Shet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5CREB3-R119Ghet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5PKHD1L1-M265Thet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.981 (probably damaging)
0.5VPS13B-A829Thet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview
0.5VPS13B-G3407Rhet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ADRB3-W64Rhet unknown0.085Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RRS1-R191Lhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5PEX2-C184Rhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
0.5ROR2-V819Ihomozygous0.704Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ROR2-P794Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ROR2-T245Ahomozygous0.678Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCA1-K1587Rhomozygous0.582Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KAL1-V534Ihomozygous0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DMD-R2937Qhet unknown0.957Unknown
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
0.5DMD-D882Ghomozygous0.650Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC16A2-S107Phomozygous0.462Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
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
0.5CD99-M166Vhet unknown0.056Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.194 (benign)
0.5CD99-N173Ihet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.914 (probably damaging)
0.5FAM166A-P84Lhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5DFNB31-V783Ahet unknown0.412Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-H752Qhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-M613Thet unknown0.492Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-R364Hhomozygous0.981Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDK5RAP2-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
0.5SETX-I1386Vhomozygous0.691Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-G1252Rhomozygous0.690Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-D1192Ehomozygous0.790Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SURF6-T311Mhet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5SURF6-T175Mhomozygous0.257Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SURF6-R163Whomozygous0.257Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ABO-P353Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ABO-P155Lhet unknown0.112Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ABO-S74Phomozygous0.779Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ABO-H63Rhomozygous0.703Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ABO-F36Vhomozygous0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ESCO2-A80Vhet unknown0.099Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NAT2-I114Thet unknown0.398Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NAT2-R197Qhet unknown0.282Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NAT2-R268Khomozygous0.581Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
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-T1038Ahet unknown0.816Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-A3474Thomozygous0.350Unknown
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
0.5GLI3-T183Ahomozygous0.666Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DDC-M17Vhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5THSD7A-R841Hhet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.989 (probably damaging)
0.5THSD7A-D771Ehet unknown0.345Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.986 (probably damaging)
0.5THSD7A-N583Dhomozygous0.823Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PMS2-K541Ehomozygous0.874Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PMS2-R20Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LAMA4-G1117Shomozygous0.751Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LAMA4-Y498Hhomozygous0.654Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LAMA4-A283Dhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LAMA4-R154Whet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging)
0.5SYNE1-F7302Vhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-L5015Mhomozygous0.808Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-S4596Thomozygous0.793Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-K4121Rhomozygous0.784Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-E4060Dhomozygous0.566Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.5SLC22A1-L160Fhet unknown0.838Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC22A1-G401Shet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5SLC22A1-M408Vhet unknown0.640Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC22A2-S270Ahomozygous0.881Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MLXIPL-A358Vhet unknown0.086Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.345 (possibly damaging)
0.5MLXIPL-Q241Hhet unknown0.093Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.697 (possibly damaging)
0.5ABCB1-S893Ahet unknown0.683Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ABCB1-N21Dhet unknown0.074Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DPY19L2P2-H375Yhet unknown0.133Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DPY19L2P2-N333Ihet unknown0.123Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DPY19L2P2-C265Hhet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DPY19L2P2-M120Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CLCN1-G118Whomozygous0.983Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CLCN1-P727Lhet unknown0.424Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-R171Shomozygous0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-R304Ihet unknown0.118Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5MCPH1-D314Hhet unknown0.681Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.136 (benign), Testable gene in GeneTests with associated GeneReview
0.5MCPH1-D392Ghomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-T682Nhet unknown0.131Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5MCPH1-A761Vhet unknown0.408Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-P828Shet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NAT1-V211Ihet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5NAT1-S276Ahet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5AK097289-V20Lhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AK097289-F90Shifthet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5SERPINE1-A15Thet unknown0.084Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.5SERPINE1-V17Ihet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
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
0.5SAMD9L-G1137Ahet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5CYP3A7-R409Thomozygous0.762Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TRIP6-R111Qhet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5TRIP6-V230Ihet unknown0.224Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.028 (benign)
0.5CYP3A43-P340Ahomozygous0.137Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.925 (probably damaging)
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
0.5UPK1B-Q113Rhomozygous0.953Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5UPK1B-N137Dhet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.989 (probably damaging)
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-L438Vhet unknown0.375Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-E224Ghomozygous0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TRIOBP-S217Nhomozygous0.544Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests
0.5TRIOBP-T715Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TRIOBP-N863Khomozygous0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests
0.5APOBEC3B-K62Ehet unknown0.608Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5APOBEC3B-S109Ahet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5APOBEC3B-T146Khomozygous0.952Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NR_027052-Q90*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5PCNT-K314Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCNT-G704Ehomozygous0.894Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCNT-V1038Ahomozygous0.883Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCNT-I1639Vhet unknown0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCNT-N1841Shet unknown0.244Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCNT-R1953Hhet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.014 (benign), Testable gene in GeneTests
0.5PCNT-L2097Phet unknown0.202Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5PCNT-H2125Phet unknown0.201Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCNT-M2188Rhet unknown0.201Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCNT-W2239Rhet unknown0.194Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5PCNT-P2377Lhet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.012 (benign), Testable gene in GeneTests
0.5PCNT-R2753Hhet unknown0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.5PCNT-Q2792Rhet unknown0.693Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.006 (benign), Testable gene in GeneTests
0.5TTC3-M840Thomozygous0.557Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TTC3-R924Hhet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5TTC3-E1743Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TTC3-D1751Hhomozygous0.616Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NDUFV3-R200*het unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5NDUFV3-D415Nhomozygous0.640Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ITGB2-Q354Hhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.543 (possibly damaging), Testable gene in GeneTests
0.5YBEY-R150Lhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.989 (probably damaging)
0.5BC036832-Q62*het unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5SCO2-R20Phomozygous0.629Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ARL13B-T348Shet unknown0.087Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), 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
0.5SPICE1-V284Mhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging)
0.5ZNF654-I294Thomozygous0.790Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.038 (benign)
0.5ZNF654-S374Ahet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.96 (probably damaging)
0.5GBE1-I334Vhomozygous0.980Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GBE1-R190Ghet unknown0.292Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.025 (benign), Testable gene in GeneTests with associated GeneReview
0.5PPARG-P12Ahet unknown0.089Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.979 (probably damaging), Testable gene in GeneTests
0.5TMEM43-K168Nhomozygous0.287Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.064 (benign), Testable gene in GeneTests with associated GeneReview
0.5TMEM43-M179Thomozygous0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5XPC-Q939Khomozygous0.643Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5XPC-K481Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SCN5A-H558Rhet unknown0.246Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC17A9-T397Mhet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging)
0.5PCK1-V184Lhomozygous0.903Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCK1-I267Vhet unknown0.098Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.167 (benign), Testable gene in GeneTests
0.5PCK1-V368Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CASP8-M1Thet unknown0.031Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.5CASP8-K14Rhomozygous0.671Unknown
not reviewed
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
0.5CXCR1-R335Chet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5CXCR1-M31Rhet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CASP10-L522Ihomozygous0.439Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH7-L3319Phomozygous0.964Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DNAH7-T2114Ahet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.894 (probably damaging)
0.5DNAH7-I1020Thet unknown0.088Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DNAH7-K825Ehet unknown0.178Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.208 (possibly damaging)
0.5DNAH7-S632Chet unknown0.070Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5DNAH7-M380Rhet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
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-I9278Vhet unknown0.329Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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-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-V2823Fhet unknown0.016Unknown
not reviewed
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-K1201Ehomozygous0.731Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-T811Ihet unknown0.186Unknown
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-A698Thomozygous0.211Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL3A1-H1353Qhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL5A2-M361Lhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.651 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5OBSL1-R1767Qhet unknown0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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-E1365Dhet unknown0.702Unknown
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
0.5OBSL1-R368Chet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-G43Rhomozygous0.353Unknown
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
0.5CPNE1-A402Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CPNE1-P347Rhet unknown0.101Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.384 (possibly damaging)
0.5CPNE1-Q211Rhet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DLGAP4-R10Hhet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.987 (probably damaging)
0.5SALL4-L507Rhet unknown0.281Dominant
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.125 (benign), Testable gene in GeneTests with associated GeneReview
0.5GDF5-S276Ahomozygous0.359Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NKX2-4-Q302Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NKX2-4-P301Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CHRNG-P506Shet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.403 (possibly damaging), Testable gene in GeneTests
0.5C20orf54-P267Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5C20orf54-I74Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FERMT1-R526Khet unknown0.073Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KIF16B-M1027Thomozygous0.682Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5KIF16B-R803Whet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.97 (probably damaging)
0.5RFPL3-D97Nhet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5RFPL3-Y152Chet unknown0.077Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MCCC1-H464Phomozygous0.584Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC41A3-L501Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5SLC41A3-T62Ahomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
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
0.5COL6A5-G1223Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5COL6A5-G1223GShet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5COL6A5-L1225Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5COL6A5-T1280Phet unknown0.596Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.93 (probably damaging)
0.5COL6A5-C1477Shet unknown0.686Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5COL6A5-S1589Phet unknown0.687Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5COL6A5-Q2188Rhomozygous0.894Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.008 (benign)
0.5COL6A5-G2205Dhomozygous0.917Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CP-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
0.5NPHP3-R397Chet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EIF2B5-I587Vhomozygous0.328Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.375CASQ2-T66Ahet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375CASQ2-E58Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375GAA-H199Rhet unknown0.673Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375GAA-R223Hhet unknown0.673Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375GAA-GRYAGHWTGD607DRYAGHWAGIhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375GAA-V780Ihet unknown0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375TG-S734Ahet unknown0.592Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375TG-M1028Vhet unknown0.591Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.375TG-D1312Ghet unknown0.456Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375TG-D1838Nhet unknown0.374Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.061 (benign), Testable gene in GeneTests
0.375TG-M1974Thet unknown0.147Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.375TG-W2501Rhomozygous0.614Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.031 (benign), Testable gene in GeneTests
0.375TG-R2530Qhet unknown0.572Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.375TG-Y2563Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375TEP1-I2486Mhet unknown0.287Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375TEP1-T2468Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375TEP1-V2214Ihet unknown0.276Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375TEP1-N307Khet unknown0.297Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375EIF2AK3-A704Shet unknown0.802Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375EIF2AK3-Y186Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375EIF2AK3-Q166Rhet unknown0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375EIF2AK3-S136Chet unknown0.198Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375SIX6-E129Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375SIX6-H141Nhet unknown0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview
0.375MYO15A-C1977Rhomozygous0.805Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.375MYO15A-L1984Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
0.375MYO15A-Y2682Fhet unknown0.344Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375KRT10-H487Yhet unknown0.841Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375KRT10-H487Yhet unknown0.841Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375KRT10-SS482YGhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375KRT10-I101Shomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TLR1-H720Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25TLR1-S602Ihet unknown0.485Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PTF1A-S263Phet unknown0.507Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.981 (probably damaging), Testable gene in GeneTests
0.25PITPNM3-A80Thet unknown0.316Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PITPNM3-AP16GShet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25GCKR-L446Phet unknown0.679Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLC29A3-R18Ghet unknown0.488Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
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-I326Vhomozygous0.893Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ELN-G422Shet unknown0.332Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NM_001080826-G1222Shet unknown0.494Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NM_001080826-A1171Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25NM_001080826-S576Chet unknown0.296Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NM_001080826-P567Lhet unknown0.290Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NM_001080826-R402Qhet unknown0.321Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ASAH1-V246Ahomozygous0.867Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ASAH1-I93Vhet unknown0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ASAH1-V72Mhet unknown0.424Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
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
0.25CHRNA2-T125Ahet unknown0.580Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25EDARADD-M9Ihet unknown0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
0.25GGH-A31Thet unknown0.210Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GGH-C6Rhet unknown0.228Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLC35C1-I227Vhet unknown0.143Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CHRNB1-E32Ghet unknown0.250Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.288 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25COL6A3-T3069Ihet unknown0.362Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL6A3-A3012Phet unknown0.835Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL6A3-M2927Thet unknown0.700Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BDNF-V148Mhet unknown0.138Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RAG1-H249Rhet unknown0.469Unknown
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
0.25ABCC8-A1369Shet unknown0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MKKS-G532Vhet unknown0.134Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.067 (benign), Testable gene in GeneTests with associated GeneReview
0.25MKKS-R517Chet unknown0.134Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25LRRC50-K393Rhet unknown0.378Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.683 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25LRRC50-P502Lhet unknown0.301Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.25LRRC50-L633Shet unknown0.273Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LRRC50-L659Vhet unknown0.157Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25LRRC50-L659Phet unknown0.270Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BRCA1-S1634Ghet unknown0.298Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BRCA1-K1183Rhet unknown0.295Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BRCA1-E1038Ghet unknown0.278Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.462 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25BRCA1-P871Lhet unknown0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BAG3-C151Rhet unknown0.149Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ACADSB-R13Khet unknown0.281Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.08 (benign), Testable gene in GeneTests
0.25COL1A2-P549Ahet unknown0.798Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MMP9-Q279Rhet unknown0.346Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MMP9-G296Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MMP9-R574Phomozygous0.918Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SMPD1-G508Rhet unknown0.200Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
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
0.25NRAP-R1566Chet unknown0.368Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.853 (probably damaging)
0.25NRAP-L1531Phet unknown0.100Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.928 (probably damaging)
0.25NRAP-I1183Vhet unknown0.435Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NRAP-S490Lhet unknown0.249Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.092 (benign)
0.25NRAP-Q360Rhet unknown0.525Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NRAP-A344Thet unknown0.525Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NRAP-Y249Chet unknown0.208Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.25NRAP-V208Ahet unknown0.869Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FANCA-G809Dhet unknown0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FANCA-G501Shet unknown0.483Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FANCA-T266Ahet unknown0.508Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.778 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25C17orf97-S106Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25C17orf97-P267Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CFTR-V470Mhet unknown0.607Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ATP6V0A4-V2Ahet unknown0.735Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
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
0.25DHODH-K7Qhet unknown0.542Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.25GVINP1-E1126Khet unknown0.141Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GVINP1-R1104*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25GVINP1-S993Nhet unknown0.141Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GVINP1-H773Nhomozygous0.242Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GVINP1-Q573Rhet unknown0.141Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GVINP1-C487Yhet unknown0.135Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GVINP1-M483Vhet unknown0.643Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GVINP1-S378Fhet unknown0.141Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GVINP1-V355Mhet unknown0.141Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GVINP1-I269Mhet unknown0.133Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25THBD-A473Vhet unknown0.140Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BC037579-L308Fhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25BC037579-P305Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25PLD1-A622Shet unknown0.179Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FSHR-S680Nhet unknown0.556Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FSHR-A307Thet unknown0.451Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25COL4A4-S1400Phet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL4A4-V1327Mhet unknown0.445Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL4A4-P1004Lhet unknown0.516Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL4A4-P482Shet unknown0.499Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25RASD1-Y213*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25RASD1-L205Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SARDH-M648Vhet unknown0.519Unknown
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-L440Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25LEPR-K656Nhet unknown0.176Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.454 (possibly damaging), Testable gene in GeneTests
0.25COX10-T62Shet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
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
0.25CTLA4-T17Ahet unknown0.371Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25LAMC3-P174Qhet unknown0.210Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LAMC3-Q524Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25DBT-S384Ghet unknown0.858Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ALS2-V368Mhet unknown0.859Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LRP8-R952Qhet unknown0.290Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ARSE-G424Shet unknown0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25CDA-K27Qhet unknown0.262Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25XIAP-Q423Phet unknown0.401Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.053 (benign), Testable gene in GeneTests with associated GeneReview
0.25PLOD1-A99Thet unknown0.282Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25F9-T194Ahet unknown0.233Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.25HTR2C-C23Shet unknown0.233Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.25ITGA6-A380Thet unknown0.316Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25KCNQ4-H455Qhet unknown0.174Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.191 (benign), Testable gene in GeneTests with associated GeneReview
0.25KRTAP3-2-R27Chet unknown0.132Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.25CPN2-Q509Rhet unknown0.827Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CPN2-Q509Rhet unknown0.827Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CPN2-A305Thet unknown0.326Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests
0.25FUCA1-Q286Rhet unknown0.264Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.004 (benign), Testable gene in GeneTests
0.25FUCA1-DEAKF54YEAK*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation, Testable gene in GeneTests
0.25SULT1C4-D5Ehet unknown0.429Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CTNNAL1-E527Qhet unknown0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.463 (possibly damaging)
0.25CTNNAL1-S22*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25CFHR1-H157Yhet unknown0.305Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CFHR1-L159Vhet unknown0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CFHR1-E175Qhet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GPT-H14Nhet unknown0.382Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25RECQL4-E267Dhet unknown0.387Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NCRNA00255-R42Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25NCRNA00255-Q84Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C1orf70-A152Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C1orf70-A73Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ABCG8-Y54Chet unknown0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.01 (benign), Testable gene in GeneTests
0.25ABCG8-V632Ahet unknown0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TMEM67-I604Vhet unknown0.638Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DNAH14-T43Shet unknown0.056Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DNAH14-F405Lhet unknown0.062Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DNAH14-L828Vhomozygous0.871Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DNAH14-K1010Rhomozygous0.871Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DNAH14-R1011Qhomozygous0.871Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DNAH14-N1099Yhet unknown0.804Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DNAH14-M1110Ihomozygous0.870Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DNAH14-T1850Mhet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DNAH14-K1925Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25DNAH14-N2435Shet unknown0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DNAH14-R2911Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25DNAH14-E3232Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25DNAH14-N3969Khet unknown0.498Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DNAH14-L4096Phomozygous0.592Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DNAH14-F4244Chomozygous0.570Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DNAH14-K4375Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SLC4A3-H157Phet unknown0.947Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SLC4A3-H157Phet unknown0.947Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SLC4A3-D867Ahomozygous0.674Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25KRT14-A94Thet unknown0.440Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25KRT14-C63Yhet unknown0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LHX4-N328Shet unknown0.406Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25GBA-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
0.25IL6R-R232Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25IL6R-D358Ahet unknown0.316Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.911 (probably damaging)
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
0.25IKBKAP-I816Lhet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25IKBKAP-G765Ehet unknown0.257Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25RPTN-S485Fhet unknown0.102Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.738 (possibly damaging)
0.25RPTN-S473Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25RPTN-Q441QTDRQGQSSHYGQhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25RPTN-A108Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25FKTN-R203Qhet unknown0.263Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.166 (benign), Testable gene in GeneTests with associated GeneReview
0.25BAAT-R201Phet unknown0.169Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25BAAT-R20Qhet unknown0.627Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.136 (benign), Testable gene in GeneTests
0.25HTT-Y2309Hhet unknown0.466Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FCGR3A-F212Vhet unknown0.285Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CPS1-T344Ahet unknown0.597Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.302 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25CPS1-T1406Nhet unknown0.329Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25THNSL2-G41Ehomozygous0.874Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25THNSL2-Q402Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25GARS-P42Ahet unknown0.744Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ARSA-T391Shet unknown0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FGFR4-P136Lhomozygous0.722Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FGFR4-A328Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25FGFR4-G388Rhet unknown0.241Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.481 (possibly damaging)
0.25HOMEZ-D545Delhet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25HOMEZ-E537Delhet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25HOMEZ-L376Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25HOMEZ-A302Thet unknown0.407Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RPGRIP1-K192Ehet unknown0.483Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25RPGRIP1-E1033Qhet unknown0.262Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FECH-R102Qhet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ABAT-Q56Rhet unknown0.514Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25RNF43-L418Mhet unknown0.371Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.06 (benign)
0.25RNF43-R343Hhet unknown0.116Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.25RNF43-P231Lhet unknown0.150Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.987 (probably damaging)
0.25RNF43-I47Vhet unknown0.325Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25DSG2-R773Khet unknown0.194Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25PAX9-A240Phet unknown0.311Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
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
0.25TXNDC11-L810Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25TXNDC11-V756Lhet unknown0.506Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RAX-D44Ehet unknown0.229Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
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
0.25FANCD2-N405Shet unknown0.231Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.015 (benign), Testable gene in GeneTests with associated GeneReview
0.25SACS-V3369Ahet unknown0.204Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.769 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25KCNE1-S38Ghet unknown0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25B3GALTL-E370Khet unknown0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.088 (benign), Testable gene in GeneTests with associated GeneReview
0.25LMAN1-V39Ahet unknown0.102Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CLN5-R2Chet unknown0.104Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SUCLA2-S199Thet unknown0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GRM6-Q59Phet unknown0.616Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FREM2-S745Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FREM2-R1840Whet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.25FREM2-T2326Ihet unknown0.726Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SLC28A1-L140LVhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SLC28A1-D521Nhet unknown0.360Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MTHFD1-K134Rhomozygous0.831Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MTHFD1-R653Qhet unknown0.376Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.008 (benign)
0.25SPG11-F463Shet unknown0.480Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DRD3-G9Shet unknown0.533Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25TTBK2-L8Phet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CDAN1-R891Chet unknown0.270Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25CDAN1-Q596Rhet unknown0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CDAN1-Q107Lhet unknown0.250Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GHR-I544Lhet unknown0.435Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests
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
0.25TLR3-L412Fhet unknown0.213Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.991 (probably damaging)
0.25HGD-Q80Hhet unknown0.745Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25AMACR-E277Khet unknown0.756Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25AMACR-Q239Hhet unknown0.118Unknown
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
0.25GATM-Q110Hhet unknown0.443Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25RPAP1-Q825Ehomozygous0.971Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RPAP1-R582Ghet unknown0.135Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.25RPAP1-E506Khet unknown0.549Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.906 (probably damaging)
0.25FGA-T331Ahet unknown0.289Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.306 (possibly damaging), Testable gene in GeneTests
0.25BBS4-I354Thet unknown0.529Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FBN2-V965Ihet unknown0.665Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25IL13-Q144Rhet unknown0.811Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SRA1-V110RLhet unknown0.360Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SGSH-R456Hhet unknown0.293Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SPATA7-D2Nhet unknown0.290Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.665 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25SPATA7-V74Mhet unknown0.416Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CCDC40-A83Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CCDC40-A630Vhet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.078 (benign)
0.25SERPINA1-E400Dhet unknown0.208Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), 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
0.25ATXN3-V212Mhet unknown0.276Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NDUFS7-P23Lhet unknown0.538Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25ZNF317-Q19Hhet unknown0.117Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25ZNF317-Q19Hhet unknown0.117Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25EYA4-G277Shet unknown0.386Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests with associated GeneReview
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
0.25SOD2-V16Ahet unknown0.476Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RSPH4A-L589Phet unknown0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL10A1-G545Rhet unknown0.162Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.774 (possibly damaging), Testable gene in GeneTests
0.25COL10A1-M27Thomozygous0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CLDN16-R55Shifthet unknown0.172Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift, Testable gene in GeneTests
0.25LCA5-G656Dhet unknown0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LCA5-L24Shet unknown0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25SLC22A16-H49Rhet unknown0.271Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PIWIL3-V471Ihet unknown0.189Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.25PIWIL3-V418Mhomozygous0.937Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PIWIL3-C412Rhomozygous0.619Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PIWIL3-G3Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25DYNC2H1-R1057Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25DYNC2H1-K1413Rhomozygous0.679Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.063 (benign), Testable gene in GeneTests
0.25DYNC2H1-R2871Qhomozygous0.756Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25DYNC2H1-A3687Vhet unknown0.301Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25GPR56-S281Rhet unknown0.609Unknown
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)
0.25POLA2-G583Rhet unknown0.154Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.024 (benign)
0.25AXIN2-P50Shet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25BBS9-A455Thet unknown0.173Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SNTB2-S82Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SNTB2-F146Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SLC2A2-T110Ihet unknown0.240Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, 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
0.25PLG-D472Nhet unknown0.261Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CNGB1-G993Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CNGB1-R100Hhomozygous0.757Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ALG8-N222Shet unknown0.172Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25COL9A1-Q621Rhet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL9A1-S339Phet unknown0.479Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MANBA-T701Mhet unknown0.552Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CD19-L174Vhet unknown0.768Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25C12orf10-Q4RhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C12orf10-T349IhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C12orf10-H353RhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C12orf10-R355*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25MAN2B1-R337Qhet unknown0.373Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.027 (benign), Testable gene in GeneTests with associated GeneReview
0.25MAN2B1-T312Ihet unknown0.458Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.045 (benign), Testable gene in GeneTests with associated GeneReview
0.25MAN2B1-L278Vhet unknown0.321Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25EYS-R2326Qhet unknown0.355Unknown
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-E641Vhet unknown0.185Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-G631Shet unknown0.517Unknown
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
0.25MMAB-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
0.25MVK-S52Nhet unknown0.119Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SH2B1-T484Ahet unknown0.343Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ACADS-G209Shet unknown0.194Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests
0.25MLC1-C171Fhet unknown0.106Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.04 (benign), Testable gene in GeneTests with associated GeneReview
0.25TCHP-K127Rhet unknown0.306Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TCHP-I289Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25TCHP-Q287QHRTKhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25KRT6C-R182Qhet unknown0.402Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.805 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25KRT83-H493Yhet unknown0.751Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25KRT83-I279Mhet unknown0.409Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CDC42EP1-P255Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CDC42EP1-S260Phet unknown0.207Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MYH9-I1626Vhet unknown0.153Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SLCO1B1-N130Dhet unknown0.528Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLCO1B1-P155Thet unknown0.135Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUT-I671Vhet unknown0.608Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CELA1-Q243Rhet unknown0.107Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CELA1-R44Whet unknown0.136Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CELA1-Q10Hhet unknown0.084Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.463 (possibly damaging)
0.25CELA1-Y5Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CELA1-V3Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25PEX6-P939Qhet unknown0.430Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.125CYP4F2-V433Mhet unknown0.226Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.309 (possibly damaging)
0.125CYP4F2-W12Ghet unknown0.191Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0MBL2-R52Chet unknown0.049Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.999 (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
0FANCE-V311Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0SIAE-M89Vhet unknown0.040Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.015 (benign)

Input file format: CGIVAR

Genome build: b37

Genome coverage: 2,732,024,610 bases (96.5% of callable positions, 90.4% of total positions)

Coding region coverage: 31,432,398 bases (94.6% of all genes, 95.7% 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

Gene search

"GENE" or "GENE A123C":

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