- GET-Evidence variant report

Variant report for

Log file: 




VariantClinical
Importance
ImpactAllele
freq
Summary
1VWF-Y1584CModerateLikelyLikely pathogenic

Dominant, Heterozygous
0.00232385This variant is associated with causing Type 1 von Willebrand disease in a dominant fashion. This hereditary defect in coagulation makes individuals more susceptible to bleeding. Not all carriers of the variant have the disease (incomplete penetrance); type O blood may also be a risk factor. A vWF antigen assay can confirm presence of the disease. Individuals are not usually treated with medication, but prophylactic measures are recommended before surgery and behavioral modification to avoid activities with a high risk of trauma (particularly head trauma) is recommended.1
2PHKB-M185IModerateUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.0105116Reported to cause glycogen storage disease type IX in a recessive manner, but insufficient data is reported to establish significance.1
3MTRR-I49MLowLikelyLikely pathogenic

Recessive, Homozygous
0.451199This common variant (HapMap allele frequency of 31.3%) in a protein involved in folate (B9) and cobalamin (B12) metabolism and is often reported as "MTRR I22M" (an alternative transcript position). Mothers homozygous for this variant are associated with having around a increased chance of a child with Down syndrome (risk of 0.4%, average risk in population is 0.25%). Notably, age plays a far larger role in the rate of Down syndrome (risk is 4.5% for a mother 45-years-of-age), and it is unknown how this variant may combine with the effect of age. There are conflicting reports associating this variant with incidence of neural tube defects, possibly when combined with MTHFR A222V.1
4MBL2-G54DLowLikelyLikely pathogenic

Recessive, Carrier (Heterozygous)
0.103923This variant is associated with mannose binding protein deficiency which leads to impaired complement system immune response to mannose-rich pathogens. Patients homozygous for this allele or compound heterozygous are likely to have increased susceptibility to infection, but Hellemann et al. report heterosis for intensive care outcomes in heterozygous subjects. The wild-type version of this gene is known as variant allele A, while this is called variant allele B. See R52C (variant D) and G57E (variant C).1
5AMPD1-Q12XLowLikelyLikely pathogenic

Recessive, Carrier (Heterozygous)
0.0930643Causes Adenosine Deaminase Deficiency in a recessive manner. Most of the time individuals do not report symptoms, but when symptoms do exist they to be post-exercise symptoms of muscle weakness, muscle pain, and getting tired more quickly.1
6TGIF1-P83ShiftLowUncertainUncertain pathogenic

Complex/Other, Homozygous
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
7HFE-H63DLowUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.109965There have been some hypotheses that this variant contributes to causing hereditary hemochromatosis, possibly as a compound heterozygote, but some others treat it as a polymorphism. Cys282Tyr is the classic causal variant and itself has very low penetrance. Mouse studies indicates this variant has a similar but weaker effect; if it has any effect at all its penetrance may be quite low and/or require modifier alleles.1
8CPN1-G178DLowUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.0356014This rare variant (around 1% allele frequency) is hypothesized to cause carboxypeptidase N deficiency in a recessive manner, especially if combined with a more severe variant. However the findings lack statistical sigificance: only a single case study of an affected individual links this variant to causing the disease. There aren’t any follow-up in vitro studies testing whether this variant affects protein function.1
9TP53-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
10WFS1-R611HLowUncertainUncertain not reviewed

Recessive, Carrier (Heterozygous)
0.400446This nonsynonymous SNP is associated with Wolfram Syndrome (known as DIDMOAD), which is characterized by early-onset non-autoimmune diabetes mellitus, diabetes insipidus, optic atrophy, and deafness) and to adult Type Two Diabetes Mellitus. The WFS1 gene maps to chromosome 4p16.3. The variant has been shown to be statistically associated with type II diabetes in six UK studies and one study of Ashkenazi Jews (Sandhu, M., et al., Minton et al.).1
11MEFV-R408QLowUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.00501952This variant is associated with Familial Mediterranean Fever, it has generally been reported in cis with other variants. Sugiura et al. conclude that this variant may be weakly involved with the disease.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
13MEFV-P369SLowUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.00511247Weak evidence associating this with familial mediterranean fever, but there is a fairly high frequency of this allele. This variant might cause increased susceptibility to the disease but there is not enough evidence to be significant.1
14BRCA2-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
15TPMT-Y240CLowWell-establishedWell-established pharmacogenetic

Complex/Other, Heterozygous
0.0461825Alone, this variant is known as TPMT*3C -- but often, especially in Caucasians, it is found together with another nonsynonymous variant (A154T) to produce the TPMT*3A variant. Both variants are associated with loss of thiopurine methyltransferase (TPMT) activity, although *3C is milder than *3A. Inability to metabolize thiopurine drugs can lead to severe adverse reactions. Heterozygotes may be advised to take a reduced dosage due to reduced metabolism of the drug.1
16TPMT-A154TLowLikelyLikely pharmacogenetic

Recessive, Carrier (Heterozygous)
0.0280774Usually this variant is found in combination Y240C, forming the TPMT*3A variant. When alone, this variant produces the *3B variant. Both variants are associated with loss of thiopurine methyltransferase (TPMT) activity. Inability to metabolize thiopurine drugs can lead to severe adverse reactions. Heterozygotes may be advised to take a reduced dosage due to reduced metabolism of the drug.1
17rs1544410LowUncertainUncertain pharmacogenetic

Unknown, Homozygous
0.351562rs1544410 is a Vitamin D Receptor (VDR) single nucleotide polymorphism. It is unlikely that it has functional significance because it is located in an intron (Liu et. al.), but it is in strong linkage disequilibrium with rs731236 (Dvornyk et al), which is located in an exon. 1
18FUT2-W154XModerateWell-establishedWell-established protective

Recessive, Carrier (Heterozygous)
0.490519This recessive protective variant confers resistance to norovirus (which causes stomach flu). 20% of Caucasians and Africans are homozygous for this variant and are "non-secretors": they do not express ABO blood type antigens in their saliva or mucosal surfaces. Most strains of norovirus bind to these antigens in the gut, and so this non-secretor status confers almost total resistantance to most types of norovirus. There are notable exceptions, some strains of norovirus bind a different target and are equally infectious for secretors and non-secretors.1
19PRNP-M129VLowWell-establishedWell-established protective

Complex/Other, Heterozygous
0.339561This variant is associated with some protective effects for prion disease -- individuals homozygous for this variant are less susceptible to Creutzfeldt-Jakob, and Papua New Guinea individuals heterozygotes at this site are less susceptible to kuru. 1
20KCNJ11-K23ELowLikelyLikely protective

Unknown, Homozygous
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
21IL7R-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
22TOR1A-D216HLowLikelyLikely protective

Unknown, Heterozygous
0.102993This SNP has been shown to be benign and play a protective role against Dystonia. 1
23IRS2-G1057DLowUncertainUncertain protective

Unknown, Homozygous
0.232615a.k.a Gly1057Asp, insulin receptor substrate-2 IRS2. The rs1805097(G) allele is associated with the Gly, and the (A) allele with Asp. A longevity study concluded that rs1805097(A;A) individuals were about twice as likely to live over 85 y/o (odds ratio 2.03, CI:1.39-2.99, p = .0003). 1
24TYR-R402QLowWell-establishedWell-established benign

Complex/Other, Homozygous
0.204964This is a frequent pigmentation polymorphism in Europeans that affects function of the Tyrosinase gene. It is associated with blue instead of green eyes and sun sensitivity. For the most part this variant is benign, but many individuals with ocular albinism (which affects only the eyes) carry this variant along with another more severe variant in the same gene.1
25PMS2-P470SLowLikelyLikely benign

Unknown, Heterozygous
0.374884Benign, common variant.1
26MLH1-I219VLowUncertainUncertain benign

Dominant, Homozygous
0.239822Computational evidence, functional assays, and case/control studies suggest this variant is probably benign.1
27TXNDC3-I338TLowUncertainUncertain benign

Unknown, Heterozygous
0.0377604Tentatively classified as benign, but predicted to be damaging and other variants in this gene are implicated in causing primary ciliary dyskinesia (situs inversus, chronic sinusitis, and bronchiectasis).1
28ERCC6-R1230PLowUncertainUncertain benign

Unknown, Heterozygous
0.0695297Probably benign.1
29RP1-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
30MAPT-R370WLowUncertainUncertain benign

Unknown, Heterozygous
0.155549Probably benign.1
31GUCY2D-A52SLowUncertainUncertain benign

Recessive, Carrier (Heterozygous)
0.21016One publication suggested that this variant possibly causes Leber's congenital amaurosis in a recessive manner, but the frequency data (36% in 1000 genomes) contradicts any significant pathogenic effect.1
32APOB-Y1422CLowUncertainUncertain benign

Unknown, Homozygous
0.999628This position is almost certainly an error in the HG18 reference sequence. 1
33AMPD1-P48LLowUncertainUncertain benign

Unknown, Heterozygous
0.0940695Probably benign, ancestral to15173240 pathogenic Q12X mutation.1
34PCSK9-G670ELowUncertainUncertain benign

Unknown, Homozygous
0.888269This variant is likely benign. 1
35SLC45A2-L374FLowUncertainUncertain benign

Unknown, Homozygous
0.691764Pigmentation allele for non-black hair, and consequently, possible increased susceptibility to malignant melanoma.1
36TAS2R38-A49PLowUncertainUncertain benign

Unknown, Heterozygous
0.431121This variant is strongly associated with causing the "taster" phenotype of phenylthiocarbamine (PTC) in a dominant manner.1
37TAS2R38-I296VLowUncertainUncertain benign

Unknown, Heterozygous
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
38SPTA1-A970DLowUncertainUncertain benign

Unknown, Heterozygous
0.0373134This variant, also called alpha-IIa, has been seen frequently in individuals with recessive Hereditary spherocytosis. This appears to be the result of linkage to alpha-LEPRA (a C>T substitution at position -99 of intron 30); A970D is later reported as functionally neutral.1
39TPCN2-G734ELowUncertainUncertain benign

Unknown, Heterozygous
0.286166Pigmentation allele.1
VariantPrioritization scoreAllele
freq
Num of
articles
Zygosity and Prioritization Score Reasons

Exome coverage: 32940962 / 33282720 = 98.97%

GeneChromosomeCoverageMissingLengthMissing regions
1AGRN10.959107201042682516138955553-955589, 955597, 955609, 955612-955621, 955637-955658, 955661-955662, 977056-977082, 981888, 983598-983745, 986833-986834
2GABRD10.969830757910234113591950863-1950886, 1950888-1950897, 1950910, 1950918, 1950921-1950925
3ESPN10.8861598440545829225656488330-6488336, 6488378-6488392, 6488426-6488432, 6488479, 6500709-6500744, 6500765-6500791, 6500830-6500868, 6501059-6501065, 6501097-6501103, 6505726-6505732, 6505776-6505798, 6505844, 6505847-6505856, 6505888-6505920, 6505931-6505937, 6508760-6508766, 6508828-6508857, 6508882-6508888, 6508922-6508928, 6511703-6511709, 6512127-6512133
4PLEKHG510.9677014738162410331896534090, 6534095, 6534109-6534145, 6534511, 6534535-6534560, 6534569-6534576, 6534600-6534610, 6534630-6534641, 6534644-6534645, 6557380-6557383
5KIF1B10.999435347261433531310357032, 10425584-10425585
6PEX1410.992945326278668113410684436-10684443
7TARDBP10.9911646586345411124511082356-11082362, 11082519-11082522
8PLOD110.9963369963378218412009856-12009863
9CLCNKA10.9888565891472923206416353846-16353852, 16354391-16354397, 16356985-16356991, 16357147, 16360137
10CLCNKB10.9670542635658968206416373044-16373050, 16378260-16378299, 16378881-16378887, 16383392-16383405
11ATP13A210.99915325994923354317313610, 17322608, 17322619
12PINK110.999427262313861174620960385
13HSPG210.99521857923497631317622263648-22263710
14WNT410.9270833333333377105622469339-22469415
15SEPN110.89028776978417183166826126722-26126904
16PPT110.99782844733985292140557843-40557844
17CLDN1910.98370370370371167543201564-43201574
18MPL10.997379454926625190843806160, 43814996-43814999
19STIL10.9950866304628919386747716912-47716924, 47753331, 47765697-47765700, 47765703
20CPT210.997976732422864197753676931-53676934
21DHCR2410.996776273372025155155352606-55352610
22PCSK910.9644059644059674207955505549-55505579, 55521698-55521740
23LEPR10.99914236706693349866038053, 66038057, 66083718
24CTH10.996715927750414121870883679, 70896056, 70896062, 70896070
25GLMN10.994957983193289178592713439, 92732281, 92732292-92732298
26RPL510.986577181208051289493307398, 93307404-93307414
27DPYD10.998700454840814307897847991-97847994
28AGL10.9991302457055944599100336135-100336137, 100377972
29DBT10.9958592132505261449100701002-100701003, 100701032, 100701042, 100701049-100701050
30COL11A110.967931097672711755457103363681-103363690, 103364222-103364303, 103364327, 103364517-103364522, 103364546-103364548, 103380316, 103400061-103400071, 103427474-103427475, 103427772-103427774, 103435777-103435828, 103470200, 103471855, 103471864, 103481247
31GSTM110.48249619482496340657110230496-110230531, 110230792-110230793, 110230801-110230813, 110230839, 110230854, 110231302, 110231670-110231675, 110231691, 110231714, 110231724-110231726, 110231848, 110231855, 110231892-110231947, 110232895-110232988, 110233076-110233186, 110235877, 110235882, 110235886-110235894, 110235917
32AMPD110.9991087344028522244115236066-115236067
33NOTCH210.97451456310681897416120539665-120539714, 120539739-120539745, 120539778-120539784, 120539913-120539939, 120547962-120547968, 120548022-120548058, 120548091-120548097, 120572544-120572575, 120572609-120572610, 120611960, 120611964, 120612000-120612010
34FLG10.9917938618086310012186152278238-152278281, 152278430-152278437, 152279210-152279253, 152285077-152285080
35GBA10.98245614035088211197155184364-155184384
36GBA10.99068901303538151611155205040-155205046, 155208002-155208009
37PKLR10.9994202898550711725155269993
38KCNJ1010.98421052631579181140160012060-160012077
39PPOX10.9972105997210641434161140923-161140926
40MPZ10.9987129987131777161276186
41TBX1910.98144023756496251347168274313-168274337
42F510.9994007490636746675169515793-169515796
43NPHS210.9973958333333331152179544870, 179544893, 179544898
44HMCN110.998048261178143316908185946945-185946946, 186007145, 186043893-186043901, 186055459-186055470, 186064469-186064472, 186094889-186094890, 186094894-186094896
45PDC10.9635627530364427741186418565-186418591
46CFH10.97754329004329833696196658649-196658685, 196658729-196658744, 196706672-196706674, 196706677, 196706680, 196706723-196706737, 196706740-196706743, 196706746-196706749, 196714947-196714948
47CFHR510.98421052631579271710196953094-196953111, 196953119-196953123, 196953179, 196967399-196967401
48ASPM10.995207973931385010434197060106-197060118, 197065178-197065184, 197101450-197101454, 197101459-197101468, 197113125, 197113134-197113135, 197113161, 197113185-197113192, 197113195, 197113202-197113203
49CACNA1S10.9994663820704435622201009396-201009398
50CD4610.99561200207943670-207943675
51USH2A10.9899417003011115715609215916519-215916569, 215916581-215916629, 215916662-215916677, 215956147-215956187
52LBR10.9994588744588711848225607470
53GJC210.93181818181818901320228345751, 228346008, 228346011, 228346020, 228346092-228346093, 228346097-228346101, 228346104-228346105, 228346109-228346133, 228346160, 228346168, 228346402-228346451
54ACTA110.97971781305115231134229567833-229567855
55LYST10.992547781869198511406235875402-235875411, 235875457-235875482, 235875485-235875497, 235896823, 235944217-235944248, 235950547, 235950550, 235950553
56EDARADD10.996913580246912648236631531-236631532
57MTR10.9992101105845233798237057835, 237057844-237057845
58RYR210.995638754696736514904237821244-237821305, 237824116-237824117, 237824207
59FH10.99086757990868141533241661153, 241661163-241661165, 241661176, 241661179-241661180, 241676903-241676909
60CUBN100.9997240618101531087217142093-17142095
61MYO3A100.999793856936711485126359322
62PDSS1100.995993589743595124826994218, 26994234, 27035356-27035358
63RET100.9781763826606973334543572707-43572779
64ERCC6100.998884426595275448250740809-50740813
65CHAT100.9363595905652143224750822281-50822416, 50870728-50870734
66PCDH15100.9971132620139217588955700718-55700726, 55719543, 55719552-55719553, 55719556, 56138630, 56138657, 56138662-56138663
67EGR2100.999301187980431143164573491
68VCL100.999706314243761340575874621
69BMPR1A100.999374609130711159988683146
70GLUD1100.995825879546817167788836362-88836368
71PLCE1100.999855261253441690996076506
72HPS1100.9995251661918312106100177378
73SUFU100.9993127147766311455104263974
74COL17A1100.9979973297730394494105816808-105816816
75BAG3100.9953703703703781728121436009-121436016
76HTRA1100.94525294525295791443124221169-124221245, 124221259, 124221386
77SLC25A22110.9794238683127620972792616-792634, 792639
78PNPLA2110.999339933993411515819852
79CTSD110.98627925746571712391785063-1785078, 1785089
80CDKN1C110.90325972660358929512905944, 2905948, 2905951, 2905956, 2905968-2905973, 2905976, 2906069-2906074, 2906089, 2906093-2906114, 2906118, 2906172, 2906175, 2906190-2906192, 2906197-2906205, 2906217-2906218, 2906224-2906229, 2906414-2906442
81HBD110.9842342342342374445255652-5255658
82SBF2110.99873873873874755509838474, 9983635, 9983639, 9983644-9983645, 10022477-10022478
83ABCC8110.999578592498952474617452427-17452428
84USH1C110.9951851851851913270017531161, 17531304-17531311, 17531319-17531320, 17531323, 17531335
85HPS5110.997935103244847339018309176-18309182
86LDHA110.987987987987991299918418464-18418475
87ANO5110.96207148067104104274222276954-22276967, 22276974-22277027, 22277033-22277068
88PDHX110.998007968127493150634991778-34991780
89SLC35C1110.997159090909093105645827420, 45827431, 45827435
90PEX16110.994236311239196104145939272-45939277
91GIF110.993620414673058125459599262-59599269
92SLC22A12110.995788206979547166264367266-64367268, 64367272-64367275
93BBS1110.996071829405167178266299430-66299436
94SPTBN2110.99958176495193717366460833-66460835
95LRP5110.9913366336633742484868080201-68080205, 68080210, 68080214-68080249
96MYO7A110.99984957882071664876922295
97TYR110.994968553459128159088911180-88911187
98MTMR2110.998964803312632193295595212-95595213
99DYNC2H1110.983159521050621812945102984266-102984268, 102984278-102984284, 102984291, 102984403-102984405, 102984418-102984420, 102991203-102991207, 102991489-102991531, 103029409-103029414, 103029424-103029427, 103029437, 103029459, 103029485-103029489, 103029498-103029501, 103029538, 103031715, 103033757, 103043811-103043814, 103043840-103043864, 103043883-103043885, 103043896-103043900, 103043940, 103052527, 103059282-103059287, 103059297-103059298, 103062310, 103062329-103062348, 103062868, 103062878-103062882, 103062885-103062889, 103062897, 103062928-103062934, 103062971, 103062989, 103075693, 103082542-103082545, 103082558, 103082607, 103082658-103082672, 103124072-103124084, 103128350-103128353, 103130637
100ACAT1110.99065420560748121284108012377-108012388
101ATM110.986479118961951249171108098368-108098369, 108099911-108099914, 108124749-108124756, 108126948, 108126956, 108126965-108127067, 108180944, 108180948, 108196142, 108196157, 108196184
102RDX110.9982876712328831752110108279-110108280, 110126110
103DLAT110.9984567901234631944111910016, 111910019, 111910047
104CACNA2D4120.995020503807851734141902897-1902913
105CACNA1C120.99878067367779865612622069, 2794934-2794940
106VWF120.9758351101634720484426125338-6125344, 6125722-6125728, 6127532-6127538, 6127637-6127661, 6127726-6127732, 6127782-6127788, 6127943, 6128064-6128087, 6128167-6128173, 6128339-6128376, 6128554-6128560, 6131925-6131932, 6131955-6131982, 6132003-6132033
107ATN1120.994122586062132135737045600, 7045603-7045604, 7045608, 7045892-7045907, 7045912
108GYS2120.9758522727272751211221712032-21712038, 21712045-21712084, 21712095-21712098
109ABCC9120.9965591397849516465022025559-22025564, 22025621, 22025632-22025633, 22068663-22068667, 22068671, 22068674
110DNM1L120.999095431931252221132866234, 32883983
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305CPS120.99666888740839154503211455566-211455573, 211455576, 211455584-211455587, 211455595, 211455599
306ABCA1220.99794555726759167788215919308-215919323
307SMARCAL120.99371727748691182865217329352-217329369
308OBSL120.99033561764189555691220416309, 220435669-220435678, 220435723, 220435730-220435768, 220435774-220435775, 220435779-220435780
309UGT1A120.9968789013732851602234668951-234668954, 234669084
310C20orf54200.9971631205673841410744354-744357
311AVP200.91313131313131434953063638-3063640, 3063664-3063665, 3063767-3063804
312PANK2200.99591360186807717133870103-3870109
313C20orf7200.99903660886321103813782277
314SNTA1200.999341238471671151832031383
315GDF5200.9774236387782234150634025094-34025101, 34025104-34025106, 34025109, 34025112-34025127, 34025130-34025135
316CTSA200.997995991983973149744520256-44520258
317DPM1200.99872286079183178349552748
318GNAS200.999678869621071311457430034
319COL9A3200.999513381995131205561448429
320CHRNA4200.9920382165605115188461992465-61992467, 61992472-61992481, 61992492, 61992495
321SOX18200.69004329004329358115562680512-62680869
322IFNGR2210.9299802761341271101434775850-34775920
323HLCS210.999541494727191218138309515
324AIRE210.9877899877899920163845712876-45712887, 45714286-45714293
325COL6A1210.9880142533203837308747401772-47401808
326PCNT210.99780241734093221001147786699-47786711, 47832898-47832906
327PRODH220.998336106489183180318923550-18923552
328GP1BB220.99033816425121662119711384, 19711841, 19711872, 19711875-19711877
329TBX1220.87970430107527179148819748428-19748599, 19753961, 19753970-19753975
330UPB1220.99913419913421115524906778
331CHEK2220.94151050539466103176129083906-29083912, 29083948-29083965, 29085123-29085143, 29085165-29085171, 29090027-29090057, 29091737-29091743, 29091834-29091844, 29126435
332TRIOBP220.95886165116934292709838119798-38119804, 38119856-38119905, 38119976-38120009, 38120031-38120068, 38120176-38120178, 38120270-38120303, 38120394-38120432, 38120444-38120486, 38120593-38120629, 38120704-38120710
333EP300220.999309868875095724541546120-41546122, 41546131, 41574188
334TNFRSF13C220.9981981981982155542322708
335CYB5R3220.981236203090511790643045305-43045321
336MLC1220.99735449735453113450502597-50502598, 50502609
337TYMP220.9813664596273327144950964475-50964482, 50964517-50964528, 50964712-50964718
338ARSA220.998031496062993152451063657, 51063669-51063670
339SHANK3220.84038901601831837524451113070-51113132, 51135951-51136143, 51158738-51159205, 51159446-51159448, 51159451, 51159455-51159474, 51169171, 51169480-51169557, 51169633-51169636, 51169645-51169646, 51169685-51169688
340FANCD230.97463768115942112441610088264-10088311, 10088340-10088346, 10106529-10106535, 10107087-10107093, 10107165-10107171, 10114941-10114947, 10115015-10115043
341XPC30.997520368402417282314214468-14214474
342CRTAP30.997512437810953120633155598-33155600
343ABHD530.999047619047621105043756508
344GNAT130.999050332383671105350232218
345RFT130.9846248462484625162653156390-53156414
346FLNB30.9976949673453718780958062873-58062890
347PDHB30.978703703703723108058416496-58416498, 58416502-58416510, 58416513-58416520, 58416523-58416524, 58416530
348ATXN730.88548273431994325283863898275-63898599
349GBE130.9587482219061287210981754629-81754639, 81754644-81754680, 81754683-81754685, 81754690, 81754695-81754701, 81754718-81754736, 81754744, 81754757-81754764
350CHMP2B30.99688473520249264287294920-87294921
351POU1F130.98742138364781295487309072-87309083
352PROS130.9645494830132972203193595860-93595863, 93595869-93595878, 93595912, 93595917-93595923, 93595970-93595983, 93595986-93595987, 93595992-93596000, 93596004-93596015, 93603645-93603657
353ARL13B30.9922299922299910128793761883, 93761891-93761893, 93761981, 93762013, 93762020, 93762027-93762028, 93762043
354ARL630.9982174688057156197503846
355IQCB130.99165275459099151797121547764-121547778
356ATP2C130.99473684210526152850130649318-130649332
357NPHP330.965940395692461363993132410036-132410038, 132411578-132411581, 132432110, 132438549-132438674, 132441012, 132441066
358PCCB30.9975308641975341620136048795-136048797, 136048801
359FOXL230.98762157382847141131138664564, 138664836-138664840, 138664864-138664869, 138664875, 138664878
360PLOD230.99033816425121222277145799537-145799538, 145799572, 145802972-145802975, 145802978-145802980, 145804609-145804612, 145804623-145804626, 145804631, 145804659, 145804662, 145804682
361HPS330.9986733001658443015148872997-148873000
362IFT8030.9987113402061932328160000344, 160099342-160099343
363PLD130.9996899224806213225171431783
364OPA130.98392388451444493048193355026-193355062, 193363343, 193363346, 193380735, 193380741-193380749
365IDUA40.9989806320081521962996258, 996690
366HTT40.993954820235445794293076605-3076652, 3076665-3076669, 3213770, 3213787-3213788, 3213805
367DOK740.9993399339934115153465263
368EVC40.996643168848611029795713181-5713184, 5713199-5713201, 5713212-5713214
369CNGA140.9789473684210548228047954611-47954621, 47954624-47954627, 47954631, 47954655, 47954660-47954662, 47954665-47954683, 47972913-47972915, 47972945-47972947, 47972990, 47973002, 47973006
370SLC4A440.999695585996961328572306441
371ALB40.9928961748633913183074272404-74272407, 74272410, 74283306-74283313
372COQ240.99653679653684115584193274-84193275, 84193283, 84200190
373PKD240.988992088063332290788928938-88928951, 88928968, 88928998-88929004, 88973235-88973236, 88973289-88973292, 88973299-88973302
374SNCA40.919621749408983442390749294-90749295, 90749304-90749311, 90749316, 90749320-90749335, 90756702-90756708
375CISD240.9117647058823536408103808506-103808522, 103808569-103808587
376CFI40.9994292237442911752110678929
377GAR140.992354740061165654110745181, 110745186-110745189
378ANK240.9996631295267411874114161658, 114161724-114161726
379BBS740.96554934823091742148122747089-122747091, 122747097-122747100, 122754455-122754467, 122766739-122766750, 122766759-122766764, 122775859-122775868, 122775882-122775886, 122775894, 122775907-122775925, 122775974
380MFSD840.96852922286448491557128859945-128859950, 128859953-128859957, 128859960-128859993, 128861140-128861143
381MMAA40.9976133651551331257146560671-146560673
382FGA40.9923106497501202601155507674-155507680, 155508726-155508738
383LRAT40.9985569985571693155670188
384GLRB40.97456492637216381494158041717-158041724, 158041729-158041742, 158041777, 158041780-158041792, 158041801, 158060027
385ETFDH40.9978425026968741854159620148-159620151
386GK40.95487364620939751662166199358-166199364, 166199423-166199432, 166199563-166199569, 166199603-166199609, 166199988-166199994, 166200060-166200066, 166200741-166200763, 166200780-166200786
387SDHA50.930325814536341391995223682-223683, 224475, 225642-225648, 236553-236559, 236613-236619, 236646-236663, 236673-236699, 240564-240570, 251108-251149, 251500-251506, 254571-254577, 256469-256475
388TERT50.989114445425133733991295035-1295036, 1295059-1295093
389SDHA50.95718654434251143271589387, 1593246, 1593261, 1593264, 1593266, 1593282, 1593289, 1593383-1593389
390DNAH550.99401801801802831387513717583, 13717586, 13727666, 13862739, 13894880-13894884, 13894894, 13901467, 13901474, 13916457-13916523, 13916530, 13916536-13916538
391NIPBL50.96969696969697255841537017199, 37036481-37036589, 37048604-37048696, 37048699-37048703, 37048715-37048718, 37048722-37048732, 37048736-37048740, 37048751-37048777
392LIFR50.9960534304796613329438482708, 38482714, 38482737-38482739, 38490374, 38490384, 38490389, 38506018, 38506026-38506028, 38506084
393OXCT150.9705694177863146156341862748-41862784, 41862804-41862812
394ITGA250.999717992103781354652285337
395ERCC850.997481108312343119160170509-60170510, 60200643
396NDUFAF250.9921568627451451060394819-60394822
397SMN250.99774011299435288569362949, 69366552
398SMN250.99774011299435288570238373, 70241977
399AP3B150.997869101978697328577311363, 77563390-77563395
400RASA150.94974554707379158314486669980-86670137
401MEF2C50.99718706047824142288024418-88024419, 88024438-88024439
402GPR9850.99704032556419561892189941856, 89941871, 90004655-90004667, 90007058-90007059, 90049505-90049511, 90049605-90049614, 90052271-90052273, 90144502, 90144585-90144602
403WDR3650.99544817927171132856110432793, 110436328-110436330, 110436337, 110436390-110436394, 110441818, 110456704, 110459616
404APC50.99812470698547168532112111348-112111363
405HSD17B450.99276345545002162211118835062, 118835071, 118835074, 118835121-118835129, 118835138, 118835190-118835191, 118835199
406LMNB150.9988642816581521761126168386-126168387
407FBN250.99301979631537618739127614431-127614454, 127702077, 127702081-127702085, 127702093-127702123
408MYOT50.95323981295925701497137213256, 137213259, 137221737-137221745, 137221766-137221795, 137221802-137221810, 137221849-137221863, 137221898-137221902
409MATR350.9992138364779922544138658655-138658656
410DIAPH150.998690756742653819140953471, 140953519, 140953564-140953566
411ADRB250.9991948470209311242148207634
412GRM650.99316628701595182634178421671-178421681, 178421917-178421923
413FLT450.9995112414467324092180076539, 180076545
414FOXC160.99879663056558216621611821-1611822
415ATXN160.95915032679739100244816327860-16327959
416HLA-H60.996375029856516, 29856643, 29856679
417TNXB60.93727319854847121192931976916, 31976926, 31977388-31977394, 31977525-31977555, 31977998, 31978498-31978527, 31978782-31978815, 31979475-31979483, 31979960-31979966
418CYP21A260.9791666666666731148832006211-32006217, 32006228-32006232, 32006238-32006242, 32008195-32008201, 32008448-32008454
419TNXB60.99457930709404691272932009648-32009664, 32010123-32010129, 32010272, 32010732, 32011235, 32011248, 32012329-32012337, 32012793-32012820, 32046810-32046813
420HLA-DQA160.958333333333333276832609169, 32609173, 32609181, 32609195, 32609213, 32609227, 32609231, 32609236, 32609264, 32609271, 32609286, 32609312, 32610387-32610406
421HLA-DQB160.7811704834605617278632628022, 32629124-32629173, 32629844-32629908, 32629932-32629958, 32632696-32632722, 32634331-32634332
422SYNGAP160.93501984126984262403233388042-33388108, 33393598-33393641, 33393658-33393680, 33400008-33400011, 33411524-33411528, 33411532-33411533, 33411536-33411606, 33411623-33411624, 33411629-33411634, 33411638, 33411643-33411679
423RUNX260.9731800766283542156645390446-45390482, 45459815-45459819
424MUT60.93342210386152150225349409553-49409671, 49409684, 49421344-49421366, 49421394, 49421447-49421449, 49421458-49421459, 49423846
425PKHD160.9997546012269931222551497508-51497510
426EYS60.9901430842607393943564940565, 64940572, 64940575-64940580, 65523325, 65523348-65523353, 65523374, 65523378-65523384, 65523397-65523398, 65523407-65523413, 65523425, 65523446, 65596614, 65596626-65596642, 65596652-65596658, 65596674, 65596687-65596689, 66005888, 66005898-66005912, 66005918-66005919, 66204606-66204617
427LMBRD160.9919901417128813162370410730-70410737, 70410745, 70410748, 70410761, 70411844-70411845
428COL9A160.999638467100511276670981385
429RIMS160.9960622169718420507972945431, 72952138-72952140, 73108740-73108755
430MYO660.998185588387777385876554675-76554678, 76623804, 76623818, 76623825
431BCKDHB60.9728583545377432117980880999-80881022, 80881071, 80881083-80881085, 80881105-80881107, 80982899
432NDUFAF460.9905303030303552897339100, 97339103-97339106
433OSTM160.9990049751243811005108365996
434FIG460.998531571218842724110081478-110081481
435GJA160.97650130548303271149121768919-121768945
436LAMA260.9994659831250759363129513902, 129670511, 129837490-129837492
437ENPP160.96544276457883962778132171164-132171193, 132171211-132171218, 132186076-132186078, 132203485-132203529, 132203566-132203569, 132203577-132203582
438EYA460.9994791666666711920133777736
439AHI160.9997215260373213591135759636
440PEX760.932098765432166972137167229-137167235, 137167254-137167296, 137167300-137167314, 137167319
441IFNGR160.9945578231292581470137524674-137524681
442PEX360.99019607843137111122143792203, 143792208, 143792545-143792546, 143792550, 143792557-143792562
443SYNE160.998863378040463026394152542019-152542034, 152545788-152545797, 152583293-152583296
444TBP60.895098039215691071020170871010-170871109, 170871117-170871123
445LFNG70.8894736842105312611402559496-2559560, 2559578-2559621, 2559656-2559662, 2559665, 2559670-2559674, 2559680-2559681, 2559726-2559727
446PMS270.994206257242181525896029434, 6029437-6029445, 6029451-6029455
447TWIST170.7586206896551714760919156798-19156944
448DNAH1170.99646330680813481357221630550, 21630576, 21630595, 21630601-21630602, 21630606-21630610, 21630613-21630617, 21630629-21630631, 21630926-21630938, 21630941, 21827193, 21893969-21893983
449FAM126A70.9891443167305217156623000890, 23000900, 23000938-23000941, 23017918-23017928
450DFNA570.999329309188461149124742431
451HOXA1370.85347043701799171116727239310-27239316, 27239328-27239333, 27239344-27239353, 27239378-27239382, 27239392-27239451, 27239465-27239468, 27239476, 27239491-27239511, 27239522-27239578
452RP970.9984984984985166633134883
453BBS970.998873873873873266433303938, 33303949, 33303974
454TXNDC370.999434069043581176737916488
455GLI370.998524140839137474342005591-42005597
456CCM270.9775280898876430133545039933-45039962
457GRB1070.999439775910361178550685804
458SBDS70.99070385126162775366456158-66456164
459NCF170.98303030303031482572639983-72639989, 72643704-72643710
460ELN70.997241379310346217573442552, 73442560-73442563, 73442568
461NCF170.999147485080991117374193668
462HSPB170.98705501618123861875932193-75932196, 75932201-75932204
463CD3670.996476391825235141980276057-80276061
464HGF70.9945130315500712218781340828, 81399255, 81399258-81399259, 81399265-81399269, 81399280, 81399284-81399285
465AKAP970.99317639031047801172491609603-91609622, 91609637-91609647, 91691755-91691766, 91707153-91707156, 91707159, 91707162-91707170, 91709089-91709101, 91714242-91714249, 91714917, 91714923
466KRIT170.9787426503844447221191867013, 91867040, 91871396-91871440
467COL1A270.9926847110460930410194049565-94049566, 94049715-94049716, 94049727-94049728, 94049920, 94049923, 94055310, 94058722-94058742
468TFR270.9995843724023312406100238628
469SLC26A570.99284116331096162235103017274-103017283, 103017295, 103017298-103017301, 103017309
470SLC26A370.99302832244009162295107408283-107408295, 107432364, 107432367-107432368
471CFTR70.954085077650242044443117144390, 117188713-117188753, 117188760-117188800, 117188847-117188877, 117234984-117234993, 117234996-117235021, 117235029-117235036, 117235051-117235094, 117235112, 117250693
472AASS70.9971233369291682781121769457-121769459, 121769534-121769536, 121769590-121769591
473ATP6V0A470.959571938168851022523138394369-138394469, 138394479
474BRAF70.99261190786615172301140482923-140482936, 140624406-140624408
475PRSS170.8884408602150583744142458437, 142458451, 142458483-142458514, 142459625-142459629, 142459664-142459682, 142459868-142459878, 142460313, 142460335, 142460339, 142460369, 142460374, 142460379, 142460388, 142460798-142460804
476CLCN170.9996629592180712967143047491
477CNTNAP270.9982482482482573996145813983-145813988, 145813997
478KCNH270.98103448275862663480150644701, 150644744-150644756, 150644765-150644768, 150671857, 150671861, 150671864-150671865, 150671867-150671868, 150671871-150671879, 150671885-150671888, 150674973-150675001
479SHH70.9949604031677571389155595790-155595792, 155595795-155595798
480MNX170.894693200663351271206156799267, 156802655-156802764, 156802774-156802782, 156802904-156802910
481CLN880.9988385598141718611728669
482ADAM980.996747967479678246038959434, 38959441, 38959444-38959449
483ANK180.9977168949771713569441561583-41561595
484TTPA80.99880525686977183763976776
485EYA180.999437886453061177972246379
486NBN80.999558498896251226590960117
487DECR180.999007936507941100891057109
488TMEM6780.999665327978581298894777665
489VPS13B80.996414874103724311994100123348, 100123355-100123359, 100123415, 100123419-100123421, 100123434-100123441, 100123445-100123449, 100123452, 100513916-100513927, 100513931, 100513936-100513939, 100513953, 100513964
490TRPS180.999227799227833885116631959-116631961
491KIAA019680.99712643678161103480126049521-126049528, 126079933, 126091153
492KCNQ380.9942726231386152619133492765-133492779
493NDRG180.9983122362869221185134266788-134266789
494CYP11B180.99272486772487111512143958288-143958294, 143958575, 143958578, 143958593, 143958599
495PLEC80.99402347918898414055144996224-144996274, 144996365-144996385, 144997093, 144997099-144997103, 145003830, 145004368-145004372
496GPT80.97853789403085321491145731279-145731310
497RECQL480.9988971601874843627145739086-145739089
498DOCK890.99746031746032166300382607-382622
499KCNV290.996336996337616382718762-2718766, 2718965
500JAK290.981170932627246433995077453-5077455, 5077480, 5077484, 5077487-5077488, 5077491-5077492, 5077495-5077529, 5077543-5077544, 5077554-5077557, 5077568-5077580, 5126758
501TMC190.997371879106446228375403369, 75403372, 75403376-75403379
502TRPM690.999835228208931606977377572
503VPS13A90.97385826771654249952579824380, 79824388, 79824394-79824397, 79824441, 79840876, 79841382, 79841450-79841458, 79841466-79841469, 79853251-79853254, 79891049-79891056, 79896783-79896817, 79896820-79896823, 79896841-79896842, 79908423-79908424, 79928928-79928929, 79931246, 79932522-79932610, 79934498, 79938004-79938010, 79938013-79938019, 79938032-79938033, 79946961, 79952323, 79954751-79954796, 79975457, 79996909, 79996913-79996916, 79996933, 79996943, 79996960-79996964, 79996983, 79996989
504ROR290.999646892655371283294486025
505FOXE190.98395721925134181122100616510, 100616701-100616713, 100616724-100616727
506TGFBR190.9980158730158731512101867538-101867540
507ALG290.9944044764188671251101983845-101983851
508INVS90.9993746091307123198103055298-103055299
509ABCA190.9998526377836716786107553203
510MUSK90.9984674329501942610113547812, 113547816, 113547853-113547854
511NR5A190.99134199134199121386127245155, 127245167-127245171, 127265587-127265592
512LMX1B90.9937444146559471119129458210-129458216
513SETX90.9995021160069748034135139882-135139885
514CEL90.867018934390143022271135944521-135944527, 135944583-135944589, 135945985-135946018, 135946387-135946393, 135946440-135946446, 135946575-135946609, 135946620-135946669, 135946698, 135946717-135946735, 135946750-135946768, 135946785-135946788, 135946797, 135946802, 135946808-135946815, 135946818-135946822, 135946825-135946827, 135946830-135946879, 135946886-135946896, 135946908-135946911, 135946915-135946920, 135946926, 135946931, 135946936-135946941, 135946951-135946964, 135946999
515ADAMTS1390.99323062558357294284136293840-136293864, 136293879-136293882
516COL5A190.9952872938191265517137534081-137534099, 137534108-137534114
517LHX390.9991728701406111209139090889
518INPP5E90.9937984496124121935139333328-139333339
519NOTCH190.9998695878977617668139440200
520AGPAT290.9844683393070513837139581758-139581769, 139581772
521SLC34A390.9994444444444411800140128343
522EHMT190.9994867847061823897140637823-140637824
523FANCBX0.999612403100781258014877333
524ARXX0.996447602131446168925031777-25031779, 25031782-25031784
525DMDX0.9998191354675321105832398702-32398703
526RPGRX0.95056374674761171345938145324-38145348, 38145389-38145408, 38145414, 38145421-38145423, 38145435-38145436, 38145441, 38145462-38145489, 38145495-38145539, 38145550-38145594, 38182674
527TSPAN7X0.99733333333333275038546872-38546873
528ARX0.96670285921192276366765160-66765221, 66766357-66766386
529MED12X0.9969390878481820653470360660, 70361098-70361103, 70361109-70361121
530TAF1X0.97536078845477140568270586165-70586289, 70586300-70586305, 70586328-70586332, 70586335-70586337, 70586340
531SLC16A2X0.996742671009776184273641331, 73641402-73641406
532ATP7AX0.998667554963366450377227208-77227212, 77227237
533BRWD3X0.9951931965243126540979965026, 80064946-80064970
534PAK3X0.9994262765347111743110416246
535ZIC3X0.96225071225071531404136651074-136651076, 136651087-136651136
536SOX3X0.9985085756897821341139586155-139586156
537SLC6A8X0.95545073375262851908152954103-152954181, 152954202-152954207
538ABCD1X0.998212689901742238153008675-153008678
539MECP2X0.98530394121576221497153363076-153363080, 153363087-153363101, 153363107-153363108
540OPN1MWX0.9936073059360771095153455595-153455601
541OPN1MWX0.9936073059360771095153492713-153492719
542USP9YY0.999869587897761766814898466
VariantPhase/
Zygosity
Allele freqImpactEvaluationSummary / Info
5VWF-Y1584Chet unknown0.008Dominant
pathogenic
Moderate clinical importance,
likely
This variant is associated with causing Type 1 von Willebrand disease in a dominant fashion. This hereditary defect in coagulation makes individuals more susceptible to bleeding. Not all carriers of the variant have the disease (incomplete penetrance); type O blood may also be a risk factor. A vWF antigen assay can confirm presence of the disease. Individuals are not usually treated with medication, but prophylactic measures are recommended before surgery and behavioral modification to avoid activities with a high risk of trauma (particularly head trauma) is recommended.
5VWF-T1381Ahet unknown0.754Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
5VWF-Q852Rhomozygous0.904Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2.5CPN1-G178Dhet unknown0.016Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.982 (probably damaging), Testable gene in GeneTests
2.5MEFV-R408Qhet unknown0.017Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests with associated GeneReview
2.5MEFV-P369Shet unknown0.025Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests with associated GeneReview
2.5MEFV-R202Qhet unknown0.111Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.019 (benign), Testable gene in GeneTests with associated GeneReview
2AGRP-A67Thet unknown0.032Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.857 (probably damaging)
2TGIF1-P83Shifthomozygous0.139Complex/Other
pathogenic
Low clinical importance,
uncertain
Severe variants in this gene are associated with holoprosencephaly disorders when combined with loss-of-function variants in SHH. Haploinsufficiency was identified in some families with this condition. It is unclear how likely this variant is to occur in combination with an SHH variant, or what phenotypic effect the variant would have on its own.
2TGIF1-P292Shet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2TP53-P72Rhomozygous0.550Unknown
pathogenic
Low clinical importance,
uncertain
This is a common variant was first reported as a polymorphism. It has since had mixed associations with cancer: Storey et al. conclude a 7x *increased* risk of HPV cancer for homozygotes vs hets, but Jones et al. find a 1.98x *decreased* risk for colorectal cancer. This variant may have significant impact on particular cancers, but it is unclear what effect it has on the overall burden of cancer.
2TYR-R402Qhomozygous0.063Complex/Other
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests with associated GeneReview
2APOB-S4338Nhomozygous0.725Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-I2313Vhet unknown0.964Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-Y1422Chomozygous0.994Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-T98Ihet unknown0.149Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2KCNJ11-V337Ihomozygous0.761Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2KCNJ11-K23Ehomozygous0.711Unknown
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2PCSK9-A53Vhet unknown0.077Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2PCSK9-V474Ihomozygous0.859Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2PCSK9-G670Ehomozygous0.848Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2CHIT1-G102Shomozygous0.268Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.057 (benign), Testable gene in GeneTests
2MTRR-I49Mhomozygous0.313Recessive
pathogenic
Low clinical importance,
likely
This common variant (HapMap allele frequency of 31.3%) in a protein involved in folate (B9) and cobalamin (B12) metabolism and is often reported as "MTRR I22M" (an alternative transcript position). Mothers homozygous for this variant are associated with having around a increased chance of a child with Down syndrome (risk of 0.4%, average risk in population is 0.25%). Notably, age plays a far larger role in the rate of Down syndrome (risk is 4.5% for a mother 45-years-of-age), and it is unknown how this variant may combine with the effect of age. There are conflicting reports associating this variant with incidence of neural tube defects, possibly when combined with MTHFR A222V.
2MTRR-S202Lhomozygous0.285Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2NEFL-S472ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
1.5PRNP-M129Vhet unknown0.258Complex/Other
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.628 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1.5AURKA-M373Vhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1.5AURKA-I57Vhomozygous0.814Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5AURKA-F31Ihomozygous0.366Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5SFTPA1-L50Vhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1.5SFTPA1-R219Whet unknownUnknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
1.25AMPD1-P48Lhet unknown0.047Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
1.25AMPD1-Q12*het unknown0.041Recessive
pathogenic
Low clinical importance,
likely
Causes Adenosine Deaminase Deficiency in a recessive manner. Most of the time individuals do not report symptoms, but when symptoms do exist they to be post-exercise symptoms of muscle weakness, muscle pain, and getting tired more quickly.
1NR_027444-W159ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1KCNH2-K897Thet unknown0.098Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
1ATG9B-A765ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SAG-I76Vhomozygous0.071Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.436 (possibly damaging), Testable gene in GeneTests
1SAG-V403Ahomozygous0.161Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
1PLIN5-R306Whomozygous0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
1PLIN5-C255Rhomozygous0.888Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.031 (benign)
1SP110-M523Thet unknown0.319Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SP110-L425Shet unknown0.875Unknown
pathogenic
Low clinical importance,
uncertain
This variant is associated with a slightly increased risk of tuberculosis. It is unclear whether it is itself causal, or in linkage disequilibrium with some other causal variant that has a stronger effect.
1SP110-G299Rhet unknown0.822Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SP110-W112Rhet unknown0.945Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1VSIG10L-Q860ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1VSIG10L-R592Qhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1VSIG10L-M356Ihet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1VSIG10L-N3Thet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ZNF167-N494ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1KCP-D621Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1KCP-K395Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1KCP-H313ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1KCP-A16ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1TAS2R38-I296Vhet unknown0.534Unknown
benign
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.984 (probably damaging)
1TAS2R38-A262Vhet unknown0.397Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.01 (benign)
1TAS2R38-A49Phet unknown0.495Unknown
benign
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1DSG2-E713Khomozygous0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.137 (benign), Testable gene in GeneTests with associated GeneReview
1DSG2-R773Khomozygous0.221Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
1MYO5B-L1055LLhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1MYO5B-K307Nhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1MYO5B-T126Ahomozygous0.945Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1TTR-G26Shet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1C2orf83-W141*homozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
1C2orf83-E104QhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1C2orf83-S45Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1COL4A3-L141Phomozygous0.760Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1COL4A3-E162Ghomozygous0.764Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1COL4A3-D326Yhet unknown0.203Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1COL4A3-D1269Ehet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.583 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1ZNF254-D93Ghet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ZNF254-K537Nhomozygous0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1C19orf55-G398ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1KRT4-Q230Rhomozygous0.301Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1KRT4-G160GAGGFGAGFGTGGFGhomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1KRT4-A146Vhomozygous0.241Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1ALG2-V367Ahet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ALG2-S11Phet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1VDR-M1Thomozygous0.687Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
1HSH2D-S223Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1HNF1A-I27Lhomozygous0.311Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1HNF1A-S487Nhomozygous0.301Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1HNF1A-S574Ghomozygous0.976Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1INSR-A2GhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
1PAX3-T315Khet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1PLEKHA2-P389Shifthomozygous0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ADAM3A-L329ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ADAM3A-R215GhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TTN-R32283Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-I23649Thet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-A19840PhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-R9852Hhet unknown0.198Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-G9378Rhet unknown0.395Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-S3419Nhomozygous0.850Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-V3261Mhomozygous0.840Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-S1295Lhomozygous0.881Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-K1201Ehomozygous0.519Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SCARB1-G2Shet unknownUnknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.937 (probably damaging)
1RYK-R47Whet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1RYK-L17ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1CPN2-Q509WhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1DUOX2-P982Ahomozygous0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
1DUOX2-R701Qhomozygous0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
1DUOX2-H678Rhomozygous0.195Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1DUOX2-P609Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1KIF1B-Y1087Chet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ADRB2-G16Rhomozygous0.477Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
1ADRB2-E27Qhomozygous0.773Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
1GCSH-N73Shet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ITIH5L-W1041Shomozygous0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.986 (probably damaging)
1HLA-DQA1-L8Mhet unknown0.457Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-Y48Fhomozygous0.116Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-A68Vhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-W71Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-E73Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-G79Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-G84Fhet unknown0.122Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-A92Lhet unknown0.151Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-M99Vhet unknownUnknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-Q152Hhet unknown0.526Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-Q152Hhet unknown0.526Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-Q198Ehet unknown0.362Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-M230Vhomozygous0.782Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TNXB-R48PhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TPMT-Y240Chet unknown0.037Complex/Other
pharmacogenetic
Low clinical importance,
well-established
Alone, this variant is known as TPMT*3C -- but often, especially in Caucasians, it is found together with another nonsynonymous variant (A154T) to produce the TPMT*3A variant. Both variants are associated with loss of thiopurine methyltransferase (TPMT) activity, although *3C is milder than *3A. Inability to metabolize thiopurine drugs can lead to severe adverse reactions. Heterozygotes may be advised to take a reduced dosage due to reduced metabolism of the drug.
1TPMT-A154Thet unknown0.031Recessive
pharmacogenetic
Low clinical importance,
likely
Usually this variant is found in combination Y240C, forming the TPMT*3A variant. When alone, this variant produces the *3B variant. Both variants are associated with loss of thiopurine methyltransferase (TPMT) activity. Inability to metabolize thiopurine drugs can lead to severe adverse reactions. Heterozygotes may be advised to take a reduced dosage due to reduced metabolism of the drug.
1NPRL3-L489Shifthomozygous0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1NR_027242-N339Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1NR_027242-L114Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1NR_027242-Q97ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1NR_027242-L22PhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM7-V258Ahomozygous0.487Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1TRIM7-Q95Ehomozygous0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.923 (probably damaging)
1ZNF598-C725Shet unknown0.122Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF598-M637Thet unknown0.601Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF598-E555EEhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ZNF598-G42ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF598-E25GhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ZNF598-E17AhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ZNF598-DM13ALhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ZNF598-G6ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZFPM1-E444ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZFPM1-L446ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ABCC8-V1572Ihet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ABCC8-A1369Shomozygous0.755Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1MYO19-N176Shomozygous0.063Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
1RDH12-R161Qhet unknown0.076Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.941 (probably damaging), Testable gene in GeneTests with associated GeneReview
1HTT-Y2309Hhomozygous0.459Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HTT-V2786Ihomozygous0.193Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1GLI3-R1537Chet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests with associated GeneReview
1GLI3-G1336Ehet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.965 (probably damaging), Testable gene in GeneTests with associated GeneReview
1GLI3-T183Ahomozygous0.663Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1AP1S2-T35AhomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1AP1S2-R29PhomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1SEBOX-L207Shet unknown0.913Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SEBOX-W10ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1C17orf103-C16ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1DGKK-L1014ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1IL7R-I66Thet unknown0.597Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1IL7R-V138Ihet unknown0.689Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1IL7R-T244Ihet unknown0.150Unknown
protective
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1GABRE-P437Lhomozygous0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
1GABRE-S102Ahomozygous0.660Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.902 (probably damaging)
1C14orf184-E123ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1AX746903-T82ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1PIK3R6-L609ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1RAB40A-H45Lhomozygous0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.907 (probably damaging)
1HADHB-T2TThomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1CRLS1-A20ThomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.012 (benign)
1CRLS1-P193Lhomozygous0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.988 (probably damaging)
1USH2A-M3868Vhet unknown0.131Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1USH2A-E3411Ahet unknown0.638Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1USH2A-E2238Ahet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests with associated GeneReview
1USH2A-I2169Thet unknown0.575Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1USH2A-I2106Thet unknown0.629Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1USH2A-R1486Khet unknown0.646Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.063 (benign), Testable gene in GeneTests with associated GeneReview
1USH2A-A125Thomozygous0.777Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1PCDH11Y-V917FhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1PCDH11Y-N1012KhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1ZNF41-D315EhomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1ATP7A-V767Lhomozygous0.332Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ATP7A-E1350Khomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1AGT-M268Thet unknown0.733Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1AGT-T207Mhet unknown0.093Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.992 (probably damaging), Testable gene in GeneTests with associated GeneReview
1DEFB126-Q55Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1DEFB126-P106Shifthomozygous0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1USP9Y-E65DhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.011 (benign), Testable gene in GeneTests with associated GeneReview
1PRDM15-S1481Phomozygous0.995Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1PRDM15-R88ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1C10orf113-D100HhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1C10orf113-R62GhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1C10orf113-S22ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ATP6AP2-P90Ahomozygous0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
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
Insufficiently evaluatedPrioritization score: 2
Frameshift
1DPYD-R29Chomozygous0.731Complex/Other
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
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
1ABCA4-H423Rhet unknown0.232Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1ABCA4-R212Hhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
1KCNJ9-A366Vhomozygous0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1COL18A1-PGP1362DelhomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1MS4A14-I56ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1MS4A14-N177Yhomozygous0.543Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.981 (probably damaging)
1MS4A14-G584Rhomozygous0.513Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
1F5-Q534Rhomozygous0.991Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-R513Khet unknown0.296Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SCARF2-A832Ghet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1SCARF2-A814Ghet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1SCARF2-DV772ELhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1SCARF2-E764ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SCARF2-P747ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SCARF2-A745ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SCARF2-P174Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TACC2-V170Ihet unknown0.225Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1TACC2-L830Fhet unknown0.204Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1TACC2-W1103Rhomozygous0.964Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
1TACC2-A1425Thet unknown0.241Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1TACC2-S2909Thomozygous0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.981 (probably damaging)
1SEPN1-C108Yhomozygous0.789Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SEPN1-N467KhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1AX746750-S137Shifthomozygous0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1HSPG2-V3640Ihomozygous0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1HSPG2-A1503Vhomozygous0.777Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1HSPG2-N765Shomozygous0.896Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1HSPG2-M638Vhomozygous0.978Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1HRNR-S799Thomozygous0.569Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-F669Shet unknown0.081Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-D668Chet unknown0.057Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-R664Qhet unknown0.568Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-E473Ghomozygous0.951Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-G427Dhomozygous0.357Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-Q376Rhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-H273Qhomozygous0.383Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-R85Hhomozygous0.553Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.078 (benign)
1HRNR-M1ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1TCEAL6-Q175Shifthomozygous0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1FAM58A-Q15ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
1FAM58A-G4ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
1POF1B-M349Lhomozygous0.936Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1POF1B-Q26*homozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
1TOR1A-D216Hhet unknown0.089Unknown
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.205 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1PADI6-V343Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1B3GNT6-L316ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1B3GNT6-L335ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ARMS2-R3Hhomozygous0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1AK094914-K152NhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1AK094914-T33ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1AK094914-M25Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1AK094914-C16Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1AK094914-A13Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF761-L47ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF761-I122Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ZNF761-V168Ihet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.75CILP-Q979Rhomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75CILP-K575Ehomozygous0.974Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75CILP-I395Thet unknown0.491Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75ADD1-G460Whet unknown0.232Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.995 (probably damaging)
0.75ADD1-S617Chet unknown0.334Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75AKAP10-I646Vhet unknown0.434Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75AKAP10-R249Hhet unknown0.427Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75EDN1-K198Nhet unknown0.235Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.75CHRNA5-D398Nhet unknown0.158Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.75DOK7-T294Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0.75DOK7-T294Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0.75DOK7-R38Ghet unknown0.208Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75DOK7-R38Ghet unknown0.208Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75DOK7-G461Dhet unknown0.128Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.565 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.625DNAH5-I4450Vhet unknown0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.625DNAH5-A4134Vhet unknown0.450Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.625DNAH5-V1048Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0.625DNAH5-T558Ahet unknown0.395Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.791 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.625DNAH5-H12Qhomozygous0.896Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BACH2-L291Vhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging)
0.5SYNE1-S7637Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-F7302Vhomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-R5780Qhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.762 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5SYNE1-L5015Mhet unknown0.866Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-S4596Thet unknown0.800Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-K4121Rhet unknown0.835Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-E4060Dhet unknown0.539Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.5SYNE1-A2795Vhet unknown0.260Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5SYNE1-V1035Ahet unknown0.632Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.673 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5BAG3-C151Rhet unknown0.065Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BCLAF1-S209Chet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.96 (probably damaging)
0.5BCLAF1-G66Ahet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PDCD11-V899Ahet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.968 (probably damaging)
0.5LAMA2-P564Shifthet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
0.5LAMA2-A2585Vhet unknown0.594Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LAMA2-T2634Ahet unknown0.097Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AIM1-C491Rhet unknown0.181Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.091 (benign)
0.5AIM1-E1196Ahomozygous0.935Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.015 (benign)
0.5SCD-M224Lhomozygous0.377Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HABP2-T50Mhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5COL17A1-M703Vhomozygous0.672Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-G428Shomozygous0.771Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-T210Mhomozygous0.557Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MUT-I671Vhomozygous0.522Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MUT-R532Hhet unknown0.238Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CASP8AP2-T1567Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CASP8AP2-S1568Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5HLA-DQB1-V235Ihet unknown0.544Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-T217Ihet unknown0.256Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-S214Nhet unknown0.333Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-G102Rhet unknown0.605Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-Y62Hhomozygous0.140Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-F41Yhomozygous0.789Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-LL28PVhet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-S27Thet unknown0.206Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-D12Ghet unknown0.395Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ACADSB-R13Khomozygous0.171Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.08 (benign), Testable gene in GeneTests
0.5ACADSB-I316Vhomozygous0.055Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5COL11A2-P894Lhet unknown0.088Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5PAOX-V285Ihet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5TNXB-G2518Ehomozygous0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-H1161Rhomozygous0.568Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HSPA1L-E602Khomozygous0.225Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HSPA1L-T493Mhomozygous0.868Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5SMPD1-V36Ahomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5H19-G355Rhomozygous0.359Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5H19-V94Ihomozygous0.361Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5H19-W38Rhomozygous0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CYP21A2-R103Khomozygous0.216Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CYP21A2-S494Nhet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TULP1-K261Nhomozygous0.805Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TULP1-K99Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TULP1-T67Rhomozygous0.877Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CLPS-R55Hhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging)
0.5EFHC1-R159Whet unknown0.092Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.057 (benign), Testable gene in GeneTests
0.5EYS-L1873Vhet unknown0.081Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EYS-S1517Ghet unknown0.099Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EYS-R1515Whet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EYS-I1451Thet unknown0.099Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EYS-L1419Shomozygous0.780Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EYS-I1361Vhet unknown0.098Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EYS-Q1325Ehet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EYS-I1263Vhet unknown0.098Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EYS-L852Phet unknown0.655Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LCA5-L24Shomozygous0.904Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5KIAA1009-R618Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5KIAA1009-E348Qhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.968 (probably damaging)
0.5PKHD1-Q4048Rhet unknown0.566Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-Q3899Rhet unknown0.546Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-L1870Vhomozygous0.905Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-A1262Vhomozygous0.239Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-R760Chomozygous0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC22A1-L160Fhet unknown0.892Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC22A1-G401Shet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5SLC22A1-M408Vhet unknown0.715Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TRERF1-D1187Nhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.968 (probably damaging)
0.5TRERF1-C834Shet unknown0.072Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.989 (probably damaging)
0.5CUL7-Q813Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CAPN11-L142Phet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5CAPN11-V266Mhet unknown0.162Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.013 (benign)
0.5CAPN11-I521Vhet unknown0.230Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.061 (benign)
0.5CAPN11-S728Nhet unknown0.336Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NFKBIE-H95Qhet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5NR_024390-W43*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5NR_024390-A104Phet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SLC22A2-S270Ahomozygous0.876Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC34A3-R67Hhet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC34A3-E513Vhomozygous0.915Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZFHX4-A1639Thet unknown0.221Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZFHX4-I2036Vhet unknown0.068Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.077 (benign)
0.5ZFHX4-V3033Ghet unknown0.065Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.889 (probably damaging)
0.5PEX2-C184Rhomozygous0.990Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CNGB3-E755Ghet unknown0.062Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.11 (benign), Testable gene in GeneTests with associated GeneReview
0.5CNGB3-T298Phet unknown0.681Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.007 (benign), Testable gene in GeneTests with associated GeneReview
0.5CNGB3-C234Whomozygous0.939Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LY96-R56Ghomozygous0.981Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LY96-P157Shet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.909 (probably damaging)
0.5BHLHE22-S28Ahet unknown0.263Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BHLHE22-L62Qhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.889 (probably damaging)
0.5HR-R620Qhet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5HR-G337Dhet unknown0.285Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CCHCR1-S865Chet unknown0.202Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CCHCR1-R716Qhet unknown0.063Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CCHCR1-R506Whet unknown0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CCHCR1-E364Dhet unknown0.224Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CCHCR1-L268Qhet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5CCHCR1-S253Rhet unknown0.371Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CCHCR1-W78*het unknown0.460Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.5CCHCR1-E41*het unknown0.071Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.5MTHFR-A222Vhet unknown0.250Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.858 (probably damaging), Testable gene in GeneTests
0.5OPTN-K322Ehomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-S2717Whomozygous0.998Unknown
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-S1935Ghet unknown0.127Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-P1559Shomozygous0.565Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-P389Thet unknown0.513Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-F253Shet unknown0.801Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TMEM67-I604Vhomozygous0.710Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TG-S734Ahomozygous0.698Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TG-M1028Vhomozygous0.696Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5TG-D1312Ghet unknown0.344Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TG-D1838Nhet unknown0.304Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.061 (benign), Testable gene in GeneTests
0.5TG-M1974Thet unknown0.239Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TG-S2132Lhet unknown0.055Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TG-A2417Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TG-W2501Rhomozygous0.566Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.031 (benign), Testable gene in GeneTests
0.5TG-R2530Qhet unknown0.586Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5ROR2-V819Ihet unknown0.798Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ROR2-D254Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ROR2-T245Ahomozygous0.619Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BAAT-R20Qhomozygous0.569Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.136 (benign), Testable gene in GeneTests
0.5ABCA1-E1172Dhet unknown0.168Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCA1-I883Mhet unknown0.427Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCA1-V825Ihet unknown0.160Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCA1-R219Khet unknown0.498Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CDK5RAP2-V1540Lhomozygous0.714Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDK5RAP2-E289Qhomozygous0.801Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-N796Khet unknown0.197Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-V783Ahomozygous0.405Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-H752Qhomozygous0.983Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-M613Thomozygous0.487Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-A440Thet unknown0.197Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-R364Hhomozygous0.968Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABO-P353Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ABO-R175Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ABO-P155Lhet unknown0.134Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ABO-S74Phomozygous0.742Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ABO-HV63RIhet unknown0.710Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ABO-HV63RIhet unknown0.710Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ABO-F36Vhomozygous0.738Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KIAA1045-S354Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5BRD3-K435Qhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.897 (probably damaging)
0.5BOP1-D78Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5BOP1-D78Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5RECQL4-R766Shifthomozygous0.278Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests with associated GeneReview
0.5RECQL4-S92Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FAM154A-A422Vhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.968 (probably damaging)
0.5FAM154A-K345Rhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.968 (probably damaging)
0.5FAM154A-C313Whet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.087 (benign)
0.5FAM154A-P63Shet unknown0.764Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAM154A-K27Ehet unknown0.438Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.387 (possibly damaging)
0.5DOCK8-A22Vhet unknown0.291Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.009 (benign), Testable gene in GeneTests
0.5DOCK8-P97Thomozygous0.512Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests
0.5DOCK8-N413Shet unknown0.193Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.19 (benign), Testable gene in GeneTests
0.5SLC29A3-R18Ghet unknown0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC29A3-S158Fhomozygous0.453Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC29A3-V239Ihomozygous0.771Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC29A3-I326Vhomozygous0.824Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MCPH1-R171Shomozygous0.865Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-R304Ihet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5MCPH1-D314Hhet unknown0.648Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.136 (benign), Testable gene in GeneTests with associated GeneReview
0.5MCPH1-D392Ghomozygous0.979Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-T682Nhet unknown0.148Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5CYP2C9-I359Lhet unknown0.016Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.048 (benign)
0.5DDC-M17Vhomozygous0.979Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ELN-G422Shomozygous0.225Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5STAMBPL1-E204Khet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.97 (probably damaging)
0.5CCM2-V120Ihet unknown0.091Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5TXNDC3-C208Rhomozygous0.740Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TXNDC3-I338Thet unknown0.031Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5PMS2-R563Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PMS2-K541Ehomozygous0.904Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PMS2-P470Shet unknownUnknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5ABCC2-Y39Fhomozygous0.990Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCC2-V417Ihet unknown0.195Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5DNAH11-V1023Ahomozygous0.193Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-T1038Ahomozygous0.747Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-N2641Shet unknown0.367Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-A3474Thomozygous0.501Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-V3715Lhet unknown0.452Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-M4172Vhomozygous0.334Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-T4177Ihomozygous0.359Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HOXA1-R73Hhomozygous0.743Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DFNA5-V207Mhet unknown0.095Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.715 (possibly damaging), Testable gene in GeneTests
0.5DFNA5-P142Thet unknown0.263Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.292 (possibly damaging), Testable gene in GeneTests
0.5POR-A503Vhet unknown0.227Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AKAP9-M463Ihet unknown0.376Unknown
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-D1802Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AKAP9-N2792Shet unknown0.271Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AKAP9-P2979Shomozygous0.997Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SFTPA2-A91Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SFTPA2-T9Nhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5TTLL10-V249Ahet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5TTLL10-G578Dhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.257 (possibly damaging)
0.5ZNF282-R670Qhet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5AX747124-C9Yhomozygous0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AX747124-C51Shifthet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CDH23-S494Nhet unknown0.273Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-N1349Dhet unknown0.772Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-A1572Thet unknown0.720Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-T1996Shomozygous0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CLCNKA-R83Ghomozygous0.653Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKA-Y315Fhet unknown0.222Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKA-A447Thomozygous0.688Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKA-T454Ahet unknown0.070Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKA-V457Ihet unknown0.070Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCN1-G118Whomozygous0.995Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL1A2-P549Ahomozygous0.907Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CYP3A7-R409Thomozygous0.669Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AP4M1-R271Hhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ATP6V0A4-V2Ahomozygous0.680Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FLNC-R1567Qhet unknown0.074Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.676 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5AP3B1-V585Ehomozygous0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5PSORS1C1-P24Thet unknown0.110Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PSORS1C1-E34Khet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5PSORS1C1-H40Shifthet unknown0.148Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
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-D1529Ehet unknown0.606Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALK-I1461Vhomozygous0.982Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5XDH-I703Vhet unknown0.082Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.336 (possibly damaging), Testable gene in GeneTests
0.5XDH-I646Vhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCG8-T400Khomozygous0.225Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.157 (benign), Testable gene in GeneTests
0.5ABCG8-V632Ahomozygous0.908Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CYP1B1-V432Lhet unknown0.547Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CYP1B1-A119Shet unknown0.080Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CYP1B1-R48Ghet unknown0.360Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GCKR-L446Phomozygous0.673Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5OTOF-D304Yhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OTOF-F303Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5EDARADD-M9Ihomozygous0.726Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LEFTY2-P286Lhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5SCCPDH-G418Rhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.943 (probably damaging)
0.5TPO-A257Shomozygous0.387Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TPO-T725Phomozygous0.524Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TPO-V847Ahomozygous0.674Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5RAD51AP2-R976Hhet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
0.5RAD51AP2-V876Lhet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.242 (possibly damaging)
0.5RAD51AP2-S760Ihet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.048 (benign)
0.5RAD51AP2-C533Yhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5RAD51AP2-T531Ihet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
0.5RAD51AP2-Q490Hhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.955 (probably damaging)
0.5RAD51AP2-T488Ihet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.375 (possibly damaging)
0.5LPIN1-V494Mhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.004 (benign), Testable gene in GeneTests
0.5SLC3A1-M618Ihomozygous0.406Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5LHCGR-N312Shomozygous0.573Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LRP2-I4210Lhomozygous0.462Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5LRP2-K4094Ehet unknown0.744Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5LRP2-A2872Thet unknown0.327Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5DFNB59-R265Chet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.962 (probably damaging), Testable gene in GeneTests
0.5COL3A1-H1353Qhomozygous0.990Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCA12-S777Thomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALS2-V368Mhomozygous0.869Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-I6534Vhet unknown0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-A6277Phomozygous0.691Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-R4389Thomozygous0.724Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-K2613Nhet unknown0.138Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-V1491Mhomozygous0.453Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-Y1301Hhomozygous0.668Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-K1027Nhomozygous0.476Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LCT-N1639Shet unknown0.383Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LCT-I362Vhomozygous0.944Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LCT-V219Ihet unknown0.426Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MOGS-V673Ihet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.024 (benign), 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-V671Ghomozygous0.857Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-R4029Khomozygous0.527Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5EIF2AK3-A704Shomozygous0.756Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EIF2AK3-Q166Rhomozygous0.690Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CCDC93-I286Thet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.933 (probably damaging)
0.5CFC1-W78Rhomozygous0.966Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GLI2-A1156Shomozygous0.536Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GLI2-D1306Nhomozygous0.595Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LBR-S154Nhomozygous0.713Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ASPM-L2647Ihomozygous0.198Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ASPM-S2562Ghomozygous0.212Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ASPM-Y2494Hhomozygous0.992Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DBT-S384Ghomozygous0.869Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL11A1-S1547Phomozygous0.752Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL11A1-P1335Lhomozygous0.479Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OVGP1-E676Qhet unknown0.652Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5OVGP1-M479Vhet unknown0.148Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.963 (probably damaging)
0.5OVGP1-M477Thet unknown0.664Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5OVGP1-D332Ehet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5NGF-A35Vhomozygous0.244Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.123 (benign), Testable gene in GeneTests
0.5PTPN22-W620Rhomozygous0.970Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GFI1-S36Nhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5TACSTD2-D216Ehet unknown0.158Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign)
0.5TACSTD2-E147Dhet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.738 (possibly damaging)
0.5ATP13A2-V467Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
0.5CLCNKB-R27Lhet unknown0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKB-A214Ghomozygous0.815Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKB-A287Vhomozygous0.820Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKB-I419Vhet unknown0.133Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKB-T481Shet unknown0.123Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKB-M562Thomozygous0.856Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKB-K578Ehomozygous0.748Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ALDH4A1-T528Nhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.818 (possibly damaging), Testable gene in GeneTests
0.5MAST2-D388Ehomozygous0.882Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MAST2-I659Mhomozygous0.482Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.033 (benign)
0.5MAST2-K1197Rhet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.019 (benign)
0.5MAST2-V1304Mhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.293 (possibly damaging)
0.5CYP4A22-L72Ihet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.014 (benign)
0.5CYP4A22-R126Whet unknown0.289Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CYP4A22-G130Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5CYP4A22-N152Yhet unknown0.790Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CYP4A22-C231Rhet unknown0.598Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CYP4A22-L428Phet unknown0.297Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CYP4A22-L509Fhet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.168 (benign)
0.5POMGNT1-M623Vhomozygous0.878Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5VANGL1-A116Thet unknown0.097Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.5SEC22B-D70Yhet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SEC22B-T81Khet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SEC22B-R107Qhet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SEC22B-C129Rhet unknown0.085Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SEC22B-R131*het unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5SEC22B-H189Rhet unknown0.508Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CD244-G287Ahet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5BLZF1-R258Hhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.978 (probably damaging)
0.5SELE-L575Fhet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.007 (benign)
0.5SELE-S149Rhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.978 (probably damaging)
0.5HMCN1-I2418Thomozygous0.553Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.468 (possibly damaging), Testable gene in GeneTests
0.5HMCN1-E2893Ghomozygous0.617Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.91 (probably damaging), Testable gene in GeneTests
0.5HMCN1-N4027Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HMCN1-Q4437Rhet unknown0.547Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests
0.5ABL2-K915Rhet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5GON4L-T1545Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5GON4L-M1544Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5GON4L-M1418Vhet unknown0.383Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GBA-K144Rhomozygous0.619Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GBA-R140Whet unknown0.357Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BNIPL-R189Hhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5ANXA9-M1Vhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5ANXA9-D166Ghet unknown0.056Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.992 (probably damaging)
0.5FLG-E2652Dhomozygous0.304Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.406 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5IVL-GL69DMhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5IVL-K264Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5IVL-H265Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5SHE-T197Mhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.988 (probably damaging)
0.5IL6R-D358Ahomozygous0.266Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.911 (probably damaging)
0.5STK36-K295Rhet unknown0.217Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.019 (benign)
0.5STK36-R477Whet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5STK36-R583Qhet unknown0.474Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.892 (probably damaging)
0.5STK36-R1112Qhet unknown0.085Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.124 (benign)
0.5OBSL1-R1767Qhet unknown0.491Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-Q1578Rhomozygous0.968Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-E1365Dhomozygous0.723Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-R723Khet unknown0.770Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VCAN-G428Dhet unknown0.215Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.923 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5VCAN-K1516Rhomozygous0.480Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VCAN-F2301Yhomozygous0.462Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-I1090Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-L1093Fhet unknown0.835Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-V1951Ihet unknown0.820Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-P1987Lhet unknown0.333Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.366 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5GPR98-Y2232Chet unknown0.349Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.989 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5GPR98-N2345Shet unknown0.304Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5GPR98-N2584Shet unknown0.825Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-E3471Khet unknown0.834Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-E3867Khet unknown0.356Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-E5344Ghomozygous0.903Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5GPR98-V5427Mhomozygous0.918Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-V5876Ihet unknown0.424Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.94 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5WDR36-I264Vhomozygous0.223Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FBN2-M2311Vhet unknown0.242Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FBN2-V965Ihomozygous0.714Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5APC-V1822Dhomozygous0.887Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ARSB-S384Nhet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.171 (benign), Testable gene in GeneTests
0.5ARSB-V376Mhet unknown0.066Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5HEXB-L62Shomozygous0.978Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HEXB-K121Rhet unknown0.227Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CFI-T300Ahomozygous0.957Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HADH-L86Phomozygous0.859Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NR3C2-V180Ihomozygous0.883Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AGA-T149Shomozygous0.925Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CCNO-I219Shifthet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5AMACR-E277Khomozygous0.724Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AMACR-Q239Hhet unknown0.109Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AMACR-L201Shomozygous0.738Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AMACR-G175Dhet unknown0.257Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AMACR-V9Mhet unknown0.368Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IL13-Q144Rhomozygous0.766Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AX746964-G175Shifthet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5AX746964-K166Ihet unknown0.628Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GRM6-A807Vhet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.418 (possibly damaging), Testable gene in GeneTests
0.5GRM6-Q59Phet unknown0.211Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5BC040901-C89Whet unknown0.706Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BC040901-P93Shet unknown0.548Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BC040901-A106Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5F13A1-P565Lhet unknown0.213Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5F13A1-V35Lhomozygous0.143Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HLA-H-Q61Rhet unknown0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-R100Chet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-L145Rhet unknown0.293Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-A147Vhet unknown0.278Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-S182Whet unknown0.392Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-G217Ahet unknown0.074Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-C238Shet unknown0.729Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEDD9-P136Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5PROP1-N20Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5F12-A207Phomozygous0.951Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCDHB6-A294Shet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PCDHB6-V446Ahomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PCDHB6-E621Ghet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5PCDHB6-H636Qhomozygous0.617Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.393 (possibly damaging)
0.5PCDHB6-G776Dhet unknown0.102Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PCDHB3-K41Rhet unknown0.084Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PCDHB3-I454Thet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5PCDHB3-T534Ahet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.035 (benign)
0.5SLC26A2-I574Thomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TCOF1-P1139Rhomozygous0.211Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HK3-G246Dhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5MSX2-M129Thomozygous0.716Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5UGT2A1-G308Rhet unknown0.068Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.5UGT2A1-L197Shet unknown0.089Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.791 (possibly damaging)
0.5UGT2A1-Y192*het unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5UGT2A1-Y188Hhet unknown0.087Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.021 (benign)
0.5UGT2A1-R75Khomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5UGT2B11-P358Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5UGT2B11-C156Rhet unknown0.193Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.986 (probably damaging)
0.5UGT2B11-S70Phet unknown0.213Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.007 (benign)
0.5DNASE1L3-R206Chet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5GBE1-I334Vhomozygous0.979Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GBE1-R190Ghet unknown0.321Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.025 (benign), Testable gene in GeneTests with associated GeneReview
0.5NR_015394-T113Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5KIAA1407-R374Whet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5RETNLB-L14Shifthet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5IQCF1-R114Qhet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5MLH1-I219Vhomozygous0.124Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5EFHD1-A31Vhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5EFHD1-K186Rhet unknown0.302Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
0.5ALPPL2-L316Rhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ALPPL2-R498Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5COL6A3-T3069Ihet unknown0.364Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A3-A3012Phomozygous0.843Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A3-M2927Thomozygous0.674Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SUMF1-S63Nhet unknown0.088Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests
0.5KCNH8-R495Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5KCNH8-Q893Rhet unknown0.076Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.5TBC1D5-Y375Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5DRD3-G9Shomozygous0.482Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HCLS1-V436Lhomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HCLS1-E361Khet unknown0.160Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HCLS1-T235Ahomozygous0.664Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HCLS1-D166Nhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5WFS1-V333Ihet unknown0.889Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WFS1-R611Hhet unknown0.442Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5EVC-Y258Hhomozygous0.721Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests
0.5EVC-T449Khet unknown0.871Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EVC-R576Qhet unknown0.274Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests
0.5BST1-R125Hhet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5TMEM156-Y48Chet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5UGT2B7-Y268Hhomozygous0.727Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CENPC1-G389Dhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5CENPC1-L341Fhomozygous0.716Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5POLN-Q121Hhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5IDUA-H33Qhomozygous0.750Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview
0.5IDUA-R105Qhet unknown0.147Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.023 (benign), Testable gene in GeneTests with associated GeneReview
0.5IDUA-A361Thet unknown0.204Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ACAD9-A326Thet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.975 (probably damaging), Testable gene in GeneTests
0.5CASR-A986Shet unknown0.070Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5CASR-E1011Qhomozygous0.916Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HTR3E-E22Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5HTR3E-A86Thomozygous0.769Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ABCF3-P503Lhet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.554 (possibly damaging)
0.5MUC4-A4693Shet unknown0.614Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC4-N4374Khet unknown0.433Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC4-A4320Thet unknown0.200Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC4-M4309Ihet unknown0.837Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC4-P4135Shet unknown0.851Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC4-P3922Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MUC4-D2115VhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MUC4-H994Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MUC4-E953Qhet unknown0.703Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC4-T945Shomozygous0.874Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC4-T525Ahet unknown0.792Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC4-T398Ihet unknown0.793Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC4-T377Ihet unknown0.793Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC4-F300Vhet unknown0.792Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC4-T181Khet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5MUC4-T113TVTQEThet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MUC4-A41Phet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC20-D322Hhet unknown0.711Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC20-T345Shifthet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CHAT-V461Mhomozygous0.927Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CACNG6-C252Shet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5ZFP106-R1599Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5PRX-G1132Rhomozygous0.978Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRX-P1083Rhet unknown0.082Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.793 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5PRX-I921Mhet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRX-V882Ahet unknown0.493Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.014 (benign), Testable gene in GeneTests with associated GeneReview
0.5TTBK2-L8Phomozygous0.560Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5STRC-Q84Rhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MGA-T716Shomozygous0.780Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MGA-C1270Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5RPAP1-Q825Ehomozygous0.981Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RPAP1-R582Ghet unknown0.083Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.5RPAP1-R429Qhet unknown0.145Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.01 (benign)
0.5INF2-R877Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NM_001080841-V80Ahet unknown0.197Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NM_001080841-R85Chet unknown0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NM_001080841-R102*het unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5PAK6-R262Qhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.942 (probably damaging)
0.5ZFYVE19-R48Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ZFYVE19-S376Ahomozygous0.814Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5GATM-Q110Hhomozygous0.651Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FBN1-C472Yhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BBS4-I354Thomozygous0.399Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCI-A86Vhet unknown0.219Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCI-C742Shet unknown0.234Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCI-I877Lhet unknown0.086Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NM_001040615-R680Shet unknown0.326Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.27 (possibly damaging)
0.5NM_001040615-E641Dhet unknown0.321Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5NM_001040615-V406Mhomozygous0.883Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NM_001040615-S140Thet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.968 (probably damaging)
0.5NM_001040615-I29Vhet unknown0.308Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.008 (benign)
0.5NUDT19-R142Qhet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5ZNF793-I68Mhet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5HEXA-I436Vhomozygous0.748Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CYP19A1-T201Mhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.5SCG3-S125Nhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.655 (possibly damaging), Testable gene in GeneTests
0.5NEDD4-N626Shomozygous0.702Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NEDD4-R607Qhomozygous0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NEDD4-M33Vhet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5NR2E3-T318Shifthomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift, Testable gene in GeneTests
0.5CLPX-I488Thet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.972 (probably damaging)
0.5TGFB1-P10Lhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SERPINA1-E400Dhomozygous0.220Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5SERPINA1-R125Hhet unknown0.140Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5ZNF480-C3Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5FPR1-E346Ahomozygous0.800Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FPR1-N192Khet unknown0.516Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FPR1-V101Lhet unknown0.336Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FPR1-I11Thomozygous0.831Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SIX6-H141Nhomozygous0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview
0.5SYNE2-M1969Thet unknown0.637Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests
0.5SYNE2-A2284Vhet unknown0.637Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.289 (possibly damaging), Testable gene in GeneTests
0.5SYNE2-S2359Nhet unknown0.676Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests
0.5SYNE2-A2395Thomozygous0.835Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SYNE2-S2802Ghomozygous0.864Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.012 (benign), Testable gene in GeneTests
0.5SYNE2-I2942Vhet unknown0.622Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SYNE2-P3077Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SYNE2-N3130Shet unknown0.120Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.012 (benign), Testable gene in GeneTests
0.5SYNE2-D3253Hhet unknown0.684Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.933 (probably damaging), Testable gene in GeneTests
0.5SYNE2-N3982Hhet unknown0.135Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.846 (possibly damaging), Testable gene in GeneTests
0.5SYNE2-R4041Hhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests
0.5NID2-G760Vhomozygous0.894Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NID2-S656Phomozygous0.859Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NID2-P529Shet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.871 (probably damaging)
0.5NID2-G453Dhomozygous0.545Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NID2-P22Qhomozygous0.728Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MAP4K5-P407Lhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5MAP4K5-A334Thet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ARHGAP5-A1406Thet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.969 (probably damaging)
0.5ZNF880-N106Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ZNF880-N140NNhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ZNF880-R198Shet unknown0.354Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF880-N202Hhet unknown0.292Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF880-Q406Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ZNF880-K471Rhet unknown0.328Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CTAGE5-V6Ahomozygous0.946Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CTAGE5-E360Qhet unknown0.526Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5CTAGE5-I699Vhomozygous0.065Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CTAGE5-R715Ghet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably 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
0.5FANCM-V878Lhet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCM-I1460Vhet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.013 (benign), Testable gene in GeneTests with associated GeneReview
0.5FANCM-P1812Ahet unknown0.062Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.958 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5AK054965-R105Phet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5AK054965-R6Shifthet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ZFYVE26-R2411Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZFYVE26-N1891Shomozygous0.900Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPATA7-D2Nhomozygous0.155Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.665 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5ZNF224-M118Vhomozygous0.793Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF224-H162Lhomozygous0.780Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.262 (possibly damaging)
0.5ZNF224-K640Ehomozygous0.593Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5COX8C-P38Shet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5SERPINA10-G271Shet unknown0.055Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.003 (benign)
0.5SERPINA10-T161Shet unknown0.377Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SERPINA10-R88*het unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5SERPINA10-S61Ghet unknown0.404Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SERPINA10-K46Rhomozygous0.674Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ERCC2-K751Qhet unknown0.218Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ERCC2-D312Nhet unknown0.145Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.032 (benign), Testable gene in GeneTests with associated GeneReview
0.5ACOX1-I312Mhomozygous0.492Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MLH3-N826Dhomozygous0.981Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRRG2-R104Qhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.989 (probably damaging)
0.5PRRG2-G116Chet unknown0.297Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TSHR-P52Thet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TSHR-E727Dhomozygous0.895Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AX747031-Y95*het unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5GALC-T641Ahomozygous0.892Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC16A2-S107Phomozygous0.444Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5UNC13A-L1121Phomozygous0.992Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5UNC13A-A53Shifthet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ATP8B1-A1152Thomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5POLI-D17Delhet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5POLI-F532Shet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5POLI-A731Thet unknown0.822Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DSC3-A28Dhet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.067 (benign), Testable gene in GeneTests with associated GeneReview
0.5CD300LG-A231Shifthet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5KRT13-T298Ahomozygous0.835Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRT13-A187Vhet unknown0.715Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRT13-A146Ghet unknown0.054Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CD226-S307Ghomozygous0.423Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CTDP1-S61Ahet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FBXW10-R607Chet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5SYNRG-D746Nhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5SYNRG-T222Ahet unknown0.131Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5KRT10-H487Yhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRT10-I101Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MAPT-P202Lhet unknown0.108Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5MAPT-D285Nhet unknown0.081Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.014 (benign), Testable gene in GeneTests with associated GeneReview
0.5MAPT-V289Ahet unknown0.081Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MAPT-R370Whet unknown0.116Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5MAPT-Y441Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MAPT-S447Phet unknown0.055Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL1A1-T1075Ahomozygous0.961Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ST6GALNAC1-I424Vhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.221 (possibly damaging)
0.5ST6GALNAC1-V80Ahet unknown0.102Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5COG1-N392Shet unknown0.536Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COG1-E453Qhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.11 (benign), Testable gene in GeneTests with associated GeneReview
0.5DNAI2-A558Thomozygous0.674Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TSEN54-E4Dhomozygous0.675Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TSEN54-K347Nhomozygous0.430Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.968 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5TSEN54-A437Vhomozygous0.515Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5CACNG1-G196Shet unknown0.074Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5SGSH-R456Hhomozygous0.302Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EME1-E69Dhet unknown0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5EME1-A466Phet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.979 (probably damaging)
0.5LAMA3-P1208Thet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LAMA3-S2834Ghomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BRIP1-S919Phomozygous0.652Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KIAA0802-Q501Rhet unknown0.272Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.998 (probably damaging)
0.5KIAA0802-G778Shet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.658 (possibly damaging)
0.5SCN4A-N1376Dhet unknown0.604Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SCN4A-S524Ghomozygous0.938Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RAI1-G90Ahomozygous0.281Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RAI1-P165Thet unknown0.542Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5RAI1-S873SShet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GRIN3B-A94Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5GRIN3B-H117Yhet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.841 (possibly damaging)
0.5GRIN3B-R404Whet unknown0.360Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.976 (probably damaging)
0.5GRIN3B-W414Rhomozygous0.681Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GRIN3B-G466Shifthet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5GRIN3B-T577Mhet unknown0.347Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5GRIN3B-A845Thet unknown0.097Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.137 (benign)
0.5GRIN3B-Y966NhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5GRIN3B-Q1006Ehomozygous0.433Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.051 (benign)
0.5GRIN3B-APAEAPPHS1028Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5GRIN3B-P1039Rhet unknown0.122Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PGLYRP2-R476Whet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5PGLYRP2-M270Khomozygous0.399Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.2 (possibly damaging)
0.5PGLYRP2-R99Qhomozygous0.364Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5PGLYRP2-T46Ahomozygous0.366Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RANBP10-A570Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5TSNAXIP1-R428Chet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.97 (probably damaging)
0.5NOTCH3-A2223Vhomozygous0.553Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR56-S281Rhet unknown0.750Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR56-Q306Hhet unknown0.094Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CETP-V422Ihomozygous0.494Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GSPT1-V100AhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5GSPT1-G92Chet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5ABCC6-R1064Whet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC6-M848Vhomozygous0.954Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CD19-L174Vhomozygous0.876Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SALL1-V1275Ihomozygous0.983Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CPAMD8-T1315Ihomozygous0.698Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CPAMD8-V369Mhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CPAMD8-M368Ihet unknown0.189Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CPAMD8-V355Ihet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CPAMD8-R341Whet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5CPAMD8-M312Thomozygous0.733Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PMFBP1-K913Nhomozygous0.487Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PMFBP1-T650Khomozygous0.117Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PMFBP1-R381Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5PMFBP1-E193Khomozygous0.069Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.868 (probably damaging)
0.5LRRC50-K393Rhomozygous0.321Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.683 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5LRRC50-P502Lhomozygous0.272Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.5LRRC50-L633Shomozygous0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRC50-L659Phomozygous0.352Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRC50-S675Thomozygous0.363Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5DNAH2-T3600Ihet unknown0.622Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DNAH2-P4325Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5SH2D3A-D223Ghet unknown0.080Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SH2D3A-R157Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5SH2D3A-N32Dhet unknown0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DENND1C-M569Vhet unknown0.312Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DENND1C-R489Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5KDM4B-F540Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5KDM4B-N541Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5KDM4B-K710Ehomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ENO3-R30*het unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Nonsense mutation, Testable gene in GeneTests
0.5ENO3-N71Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ENO3-V85Ahet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ADAMTS10-H1101Qhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ADAMTS10-T134Shomozygous0.910Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5ADAMTS10-R62Qhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.023 (benign), Testable gene in GeneTests with associated GeneReview
0.5CYBA-V174Ahet unknown0.417Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CYBA-Y72Hhet unknown0.649Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AK055272-W106*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5AK055272-R36Shifthet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5BC139719-P80Shifthet unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5TSR1-H750Qhet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging)
0.5ICAM1-G241Rhet unknown0.060Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.948 (probably damaging)
0.5ICAM1-K469Ehet unknown0.297Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SIX5-V693Mhet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.086 (benign), Testable gene in GeneTests with associated GeneReview
0.5SIX5-P635Shet unknown0.533Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.891 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5SIX5-L556Vhomozygous0.833Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CD6-P105Lhet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5CD6-T217Mhet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.975 (probably damaging)
0.5CD6-A257Vhet unknown0.471Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CD6-T539Ahet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5CD6-G606Shet unknown0.128Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GYS2-M363Vhomozygous0.729Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LRRK2-R50Hhomozygous0.927Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-S1647Thet unknown0.294Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-M2397Thet unknown0.526Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TM7SF2-A119Vhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5TM7SF2-T299Ihet unknown0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLCO1B1-N130Dhet unknown0.663Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLCO1B1-V174Ahet unknown0.097Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5IGHMBP2-L201Shomozygous0.650Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IGHMBP2-I275Vhet unknown0.138Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IGHMBP2-T671Ahet unknown0.203Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IGHMBP2-R694Whet unknown0.163Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AIP-Q228Khomozygous0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AIP-Q307Rhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLCO1B3-S112Ahomozygous0.646Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLCO1B3-M233Ihomozygous0.659Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.131 (benign)
0.5SLCO1B3-G256Ahet unknown0.102Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.981 (probably damaging)
0.5ATM-D1853Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATM-N1983Shomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CBR3-C4Yhomozygous0.391Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5NRIP1-R448Ghet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging)
0.5ZBTB39-C276Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
0.5ROM1-G118Ahomozygous0.931Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests
0.5METTL12-R40Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5KRT83-H493Yhomozygous0.791Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRT83-I279Mhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5COL2A1-T9Shomozygous0.598Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ADCY6-R138Hhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5MEN1-T546Ahomozygous0.791Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TMPRSS3-G111Shet unknown0.230Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TMPRSS3-A90Thet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests
0.5UBASH3A-S18Ghomozygous0.541Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5UBASH3A-L28Fhet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.949 (probably damaging)
0.5PRODH-R521Qhomozygous0.887Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRODH-W185Qhet unknown0.111Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRODH-P19Qhet unknown0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DPAGT1-I393Vhomozygous0.431Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AMOTL1-G871Shifthet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NR_027052-R29Hhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NR_027052-T53Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NR_027052-Y63Nhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ACAT1-A5Phomozygous0.220Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.137 (benign), Testable gene in GeneTests
0.5NPAT-N999Khet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.98 (probably damaging)
0.5NPAT-V575Ihomozygous0.570Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SEC14L4-R122Whet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5HPS4-Q620Hhomozygous0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.859 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5HPS4-H601Yhomozygous0.807Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-V547Mhomozygous0.780Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-L438Vhet unknown0.344Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-E224Ghomozygous0.779Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A2-S399Nhomozygous0.727Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A2-R680Hhet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5COL6A2-G935Rhet unknown0.070Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.036 (benign), Testable gene in GeneTests with associated GeneReview
0.5TIRAP-S180Lhet unknown0.073Complex/Other
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KRTAP10-4-D31Ahet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.945 (probably damaging)
0.5KRTAP10-4-G285Chet unknown1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KRTAP10-4-*402Chet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ATRX-Q929Ehomozygous0.565Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PFKL-D237Vhet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.614 (possibly damaging)
0.5KRTAP10-5-R268Phet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5KRTAP10-5-Y247Chet unknown0.079Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KRTAP10-5-V235Lhet unknown0.110Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KRTAP10-5-F183Chet unknown0.172Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KRTAP10-5-P30Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5LILRB3-R465Lhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5LILRB3-N252Dhomozygous0.963Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LILRB3-M115Lhomozygous0.950Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5B4GALNT3-G59Shet unknown0.140Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5B4GALNT3-K411Rhet unknown0.264Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.236 (possibly damaging)
0.5B4GALNT3-I506Vhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5B4GALNT3-R992Hhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5WNK1-T1056Phomozygous0.838Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-C1506Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ITGB2-Q354Hhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.543 (possibly damaging), Testable gene in GeneTests
0.5PLAC4-R42Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5B3GALTL-E370Khomozygous0.612Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.088 (benign), Testable gene in GeneTests with associated GeneReview
0.5CPNE1-A402Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CPNE1-P347Rhet unknown0.084Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.384 (possibly damaging)
0.5CPNE1-Q211Rhet unknown0.274Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SHANK3-I245Thomozygous0.357Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5QSER1-V385Ihomozygous0.951Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5QSER1-N501Thet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.97 (probably damaging)
0.5QSER1-N1018Shomozygous0.951Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PEX16-V254Lhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PEX16-V116Ihomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SALL4-L507Rhet unknown0.328Dominant
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.125 (benign), Testable gene in GeneTests with associated GeneReview
0.5LBP-D283Ghet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging)
0.5SLC6A5-A162Ghomozygous0.997Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-D463Nhet unknown0.177Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.122 (benign), Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-G767Rhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5COL4A1-T555Phomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DMD-R2937Qhomozygous0.899Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DMD-R1745Hhomozygous0.387Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5DMD-D882Ghomozygous0.727Unknown
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
0.5AK094748-D110Ahet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5AK094748-S209Shifthet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5TRIB3-R153Hhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5KAL1-V534Ihomozygous0.543Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RPGRIP1-P96Qhet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5RPGRIP1-K192Ehet unknown0.446Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PSMB5-R24Chet unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.982 (probably damaging)
0.5BRCA2-N372Hhet unknown0.230Recessive
pathogenic
Low clinical importance,
uncertain
This is a common variant of BRCA2 (HapMap allele frequency of 23%). The variant is weakly associated with an increased chance of breast cancer, and zygosity of the variant is associated with sex of children: male children are more likely to be homozygous for this variant, female children are more likely to be heterozygous.
0.5BRCA2-V2466Ahomozygous0.954Dominant
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALX4-P102Shet unknown0.217Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALX4-R35Thet unknown0.393Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5ATXN2-L107Vhomozygous0.311Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5UBA1-R447Hhomozygous0.199Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL9A3-P296Lhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.314 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5GPR133-S523Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5SGCG-R116Hhet unknown0.056Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests
0.5SGCG-N287Shomozygous0.843Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CCDC63-Y303Fhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5ZNF217-D889Ghet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.972 (probably damaging)
0.5ZNF217-V739Ihet unknown0.170Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HIP1R-C938Fhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5BBS10-P539Lhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.19 (benign), Testable gene in GeneTests with associated GeneReview
0.5SACS-N232Khet unknown0.083Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5KCNQ2-N780Thomozygous0.509Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375MCCC1-S724Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375MCCC1-H464Phet unknown0.408Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375ELOVL4-M299Vhet unknown0.213Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375ELOVL4-T202Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375SH3TC2-A468Shet unknown0.198Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.375SH3TC2-I33Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375ANK2-V2369Ahet unknown0.136Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.375ANK2-I3285Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375CPO-M85Ihet unknown0.426Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.196 (benign), Testable gene in GeneTests
0.375CPO-S134Rhet unknown0.476Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375CPO-E332Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375ATXN1-P753Shet unknown0.107Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375ATXN1-V560Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375FLNB-P520Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375FLNB-D1157Nhet unknown0.538Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.375FLNB-V1471Mhet unknown0.607Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.02 (benign), Testable gene in GeneTests with associated GeneReview
0.375MMP9-Q279Rhet unknown0.477Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.375MMP9-S342*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.375MMP9-R574Phomozygous0.813Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.375GSTP1-I105Vhet unknown0.338Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.375GSTP1-A114Vhet unknown0.045Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.018 (benign)
0.375BMPR1A-P2Thet unknown0.549Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375BMPR1A-E415Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NPC1-M642Ihet unknown0.863Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL4A4-S1400Phet unknown0.504Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL4A4-V1327Mhet unknown0.464Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL4A4-P1004Lhet unknown0.528Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL4A4-P482Shet unknown0.493Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HGD-Q80Hhet unknown0.742Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NDUFS7-P23Lhet unknown0.437Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25JSRP1-E116*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25JSRP1-V92Ahomozygous0.193Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.6 (possibly damaging)
0.25JSRP1-G45Shet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25JSRP1-M1Ihet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25TRIOBP-S217Nhet unknown0.413Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests
0.25TRIOBP-Q398Delhet unknown0.308Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TRIOBP-N863Khet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests
0.25TRIOBP-F1187Lhet unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests
0.25TRIOBP-H1300Rhomozygous0.431Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.006 (benign), Testable gene in GeneTests
0.25TRIOBP-E1372Dhet unknown0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.293 (possibly damaging), Testable gene in GeneTests
0.25TRIOBP-W1377Rhomozygous0.964Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.084 (benign), Testable gene in GeneTests
0.25ZNF236-I613Vhomozygous0.914Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ZNF236-S643Ghet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ZNF236-A1082Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25KISS1R-L364Hhet unknown0.875Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25XPC-Q939Khet unknown0.683Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FUCA1-Q286Rhet unknown0.205Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.004 (benign), Testable gene in GeneTests
0.25FUCA1-L134Fhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TYMP-S471Lhet unknown0.565Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25LMAN1-M410Lhet unknown0.105Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.025 (benign), Testable gene in GeneTests
0.25TMCO4-R478Hhet unknown0.374Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25TMCO4-G232*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25SCO2-R20Phet unknown0.690Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ARSA-T391Shet unknown0.423Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CDA-K27Qhet unknown0.190Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25EP300-I997Vhet unknown0.176Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TMEM43-K168Nhet unknown0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.064 (benign), Testable gene in GeneTests with associated GeneReview
0.25TMEM43-M179Thet unknown0.487Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CCDC66-D5Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CCDC66-Q383Rhomozygous0.934Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CCDC66-R460Qhet unknown0.206Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.25CCDC66-E592Qhet unknown0.276Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.082 (benign)
0.25CCDC66-S606SPhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25GAA-H199Rhet unknown0.574Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GAA-R223Hhet unknown0.606Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GAA-V780Ihet unknown0.720Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CYP2D6-T486Shet unknown0.331Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CYP2D6-P34Shet unknown0.224Complex/Other
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25KRTAP10-11-A224Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25KRTAP10-11-R269Chomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25STXBP2-I526Vhet unknown0.725Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25YY1AP1-E786Qhet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.009 (benign)
0.25YY1AP1-T277Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25PCK1-V184Lhet unknown0.856Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PCK1-E276Khet unknown0.076Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25HSPA6-A225Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25HSPA6-G226Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25FSHR-S680Nhet unknown0.605Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FSHR-A307Thet unknown0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MCEE-R104Lhet unknown0.194Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25CAPG-H335Rhomozygous0.640Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CAPG-A81Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25KCNE1-S38Ghet unknown0.710Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25DLL3-L218Phet unknown0.650Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25IFNGR2-Q64Rhet unknown0.243Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.004 (benign), Testable gene in GeneTests
0.25CD3EAP-K428Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CD3EAP-Q504Khet unknown0.284Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.25FAM83E-P311Lhet unknown0.140Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.25FAM83E-T91Ahet unknown0.560Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MKKS-G532Vhet unknown0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.067 (benign), Testable gene in GeneTests with associated GeneReview
0.25MKKS-R517Chet unknown0.215Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25PANK2-G126Ahet unknown0.917Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NLRP7-V319Ihet unknown0.306Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25LAMB3-M852Lhet unknown0.117Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.526 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25GDF5-S276Ahet unknown0.383Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FUT2-W154*het unknown0.364Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.25FUT2-G258Shet unknown0.390Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.954 (probably damaging)
0.25PRG4-R180Whet unknown0.225Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.25PRG4-T604Ahet unknown0.144Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PRG4-C746Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ETFB-T245Mhet unknown0.449Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ETFB-R189Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CACNA1S-L1800Shet unknown0.251Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SFTPB-D174Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SFTPB-T131Ihomozygous0.570Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SULT1C4-D5Ehet unknown0.371Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MAN2B1-R337Qhet unknown0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.027 (benign), Testable gene in GeneTests with associated GeneReview
0.25MAN2B1-T312Ihet unknown0.324Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.045 (benign), Testable gene in GeneTests with associated GeneReview
0.25MAN2B1-L278Vhet unknown0.236Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CASP8-K14Rhet unknown0.640Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CASP10-L522Ihet unknown0.309Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PCNT-T539Ihet unknown0.147Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.009 (benign), Testable gene in GeneTests
0.25PCNT-G704Ehet unknown0.855Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PCNT-T879Ahet unknown0.360Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.707 (possibly damaging), Testable gene in GeneTests
0.25PCNT-V1038Ahet unknown0.847Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PCNT-R1163Chet unknown0.125Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests
0.25PCNT-I1639Vhet unknown0.383Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PCNT-Q2659Hhet unknown0.572Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.849 (possibly damaging), Testable gene in GeneTests
0.25PCNT-Q2792Rhet unknown0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.006 (benign), Testable gene in GeneTests
0.25CPS1-T344Ahet unknown0.583Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.302 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25LRP8-R952Qhet unknown0.130Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LRP8-D46Ehet unknown0.621Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ATIC-T116Shet unknown0.184Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25LEPR-Q223Rhet unknown0.569Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.484 (possibly damaging), Testable gene in GeneTests
0.25CTH-S403Ihet unknown0.175Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25NEUROD1-T45Ahet unknown0.754Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25COL6A1-S116Nhet unknown0.056Dominant
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.08 (benign), Testable gene in GeneTests with associated GeneReview
0.25COL6A1-R850Hhet unknown0.264Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NDUFV3-L185Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25NDUFV3-D415Nhomozygous0.612Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLC7A9-L223Mhet unknown0.265Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests
0.25SLC7A9-V142Ahet unknown0.306Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25NPHS1-E117Khet unknown0.297Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests
0.25MERTK-R466Khet unknown0.550Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MERTK-I518Vhet unknown0.550Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25IL12RB1-G378Rhet unknown0.329Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25IL12RB1-M365Thet unknown0.297Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25IL12RB1-Q214Rhet unknown0.281Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25IL12RB1-R156Hhet unknown0.102Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.029 (benign), Testable gene in GeneTests
0.25CASQ2-T66Ahet unknown0.427Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25AK297837-W142RhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25AK297837-S27Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SLC19A1-H27Rhet unknown0.447Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.25ABCB11-V444Ahet unknown0.606Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.25SCN1A-A1056Thet unknown0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DHODH-K7Qhet unknown0.560Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.25KIF19-R807Hhet unknown0.323Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.713 (possibly damaging)
0.25KIF19-G859Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25RP1-N985Yhet unknown0.206Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.958 (probably damaging), Testable gene in GeneTests
0.25RP1-C2033Yhet unknown0.186Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests
0.25HPD-T33Ahet unknown0.884Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CHRNA2-T125Ahet unknown0.644Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SFTPC-T138Nhet unknown0.172Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SFTPC-S186Nhet unknown0.222Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DQ580909-W60RhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25DQ580909-S62Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25DQ580909-T87Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25DQ580909-S111*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25DQ580909-D196GhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ASAH1-V246Ahomozygous0.797Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ASAH1-I93Vhet unknown0.384Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ASAH1-V72Mhet unknown0.386Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SH2B3-W262Rhet unknown0.768Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NBN-E185Qhet unknown0.338Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TMC1-E81Khet unknown0.308Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TMC1-R141Whet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TRPM6-K1584Ehet unknown0.274Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.854 (probably damaging), Testable gene in GeneTests
0.25GLIS3-P456Qhet unknown0.686Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25GLIS3-S424Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25GLIS3-S298Yhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25KRT6B-I365Vhet unknown1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25VPS13B-G3407Rhet unknown0.116Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25KRT5-G543Shet unknown0.107Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25KRT5-S528Ghet unknown0.152Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25KRT5-D197Ehet unknown0.276Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.25C8orf49-G26RhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C8orf49-I81Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C8orf49-C194*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25FREM2-S745Phomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FREM2-F1070Shet unknown0.527Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FREM2-R1668Hhet unknown0.123Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.762 (possibly damaging), Testable gene in GeneTests
0.25FREM2-T2326Ihet unknown0.768Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25C14orf23-K115Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25C14orf23-K116Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.25C14orf23-K116Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.25CYP3A43-Y25Shifthet unknown0.148Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.25CYP3A43-P340Ahet unknown0.215Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.925 (probably damaging)
0.25COCH-T352Shet unknown0.382Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PAX9-A240Phet unknown0.323Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25GARS-P42Ahet unknown0.654Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BBS9-A455Thet unknown0.135Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MYH6-V1101Ahet unknown0.422Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CFTR-V470Mhet unknown0.621Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NOS3-D298Ehet unknown0.844Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ATP7B-V1140Ahet unknown0.495Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ATP7B-R952Khet unknown0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ATP7B-K832Rhet unknown0.455Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.461 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25C13orf40-K6544Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C13orf40-R6075Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C13orf40-L6011PhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C13orf40-F5916LhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C13orf40-N5750ShomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C13orf40-R5644ThomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C13orf40-S4943PhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C13orf40-G4893Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C13orf40-A4221Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C13orf40-V3805Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C13orf40-K3640Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C13orf40-D3446Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C13orf40-T3015Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C13orf40-T2812Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C13orf40-G2410RhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C13orf40-E2111Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C13orf40-A1822Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C13orf40-N1704Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C13orf40-C1275*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25C13orf40-R1070Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C13orf40-L1005Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C13orf40-P773Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25F7-R391Qhet unknown0.139Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SLC39A2-L43Rhet unknown0.791Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLC39A2-F115Lhet unknown0.290Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLC39A2-S221*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25TEP1-S1195Phet unknown0.703Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TEP1-R1055Chet unknown0.631Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FKTN-R203Qhet unknown0.177Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.166 (benign), Testable gene in GeneTests with associated GeneReview
0.25IKBKAP-P1158Lhet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25IKBKAP-C1072Shet unknown0.270Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LIPA-T16Phet unknown0.251Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.25PDE6C-S270Thet unknown0.419Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ALG8-N222Shet unknown0.120Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25MTMR2-K3Thet unknown0.216Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PCDH15-D440Ahet unknown0.343Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NODAL-R302Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25NODAL-H165Rhet unknown0.643Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.514 (possibly damaging), Testable gene in GeneTests
0.25PLCE1-R1575Phet unknown0.517Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PLCE1-T1777Ihet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PLCE1-H1927Rhet unknown0.328Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.25MYO7A-S1666Chet unknown0.610Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MYO7A-L1954Ihet unknown0.552Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MICALCL-G221Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25MICALCL-R222Chet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.25MICALCL-A305Thomozygous0.936Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NR_026750-H264Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25NR_026750-L449Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25TH-V108Mhet unknown0.416Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MUC6-V2066Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MUC6-V2046Ihet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC6-V2009Ihet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC6-T1922Ihet unknown0.441Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC6-Y1920Shet unknown0.441Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC6-P1919Hhet unknown0.429Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC6-P1906Lhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MUC6-P1897Ahet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC6-I1877Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MUC6-N1562Thomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC6-R1555Ghet unknown0.368Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC6-R1553Ghet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MUC6-T1552Phet unknown0.257Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC6-T1544Delhet unknown0.269Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC6-D1187Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MUC6-N1179Shet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MUC6-E873Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25MUC6-E431Khet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25HSD17B12-N161Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25HSD17B12-S280Lhet unknown0.312Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RAG1-H249Rhet unknown0.615Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ALG9-V289Ihet unknown0.332Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.907 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25DLAT-A43Vhet unknown0.357Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25DLAT-V318Ahet unknown0.587Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25DLAT-D451Nhet unknown0.327Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TTF1-A290Shet unknown0.177Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FGF23-T239Mhet unknown0.119Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SETX-I2587Vhet unknown0.591Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SETX-T1855Ahet unknown0.508Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SETX-I1386Vhet unknown0.494Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SETX-G1252Rhet unknown0.494Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SETX-D1192Ehet unknown0.598Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NR5A1-G146Ahet unknown1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25C12orf60-K65Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C12orf60-N103Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C12orf60-M184Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CD163L1-E914*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25CD163L1-L523Mhomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DBH-A211Thet unknown0.115Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SARDH-M648Vhet unknown0.599Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SARDH-R614Hhet unknown0.362Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.057 (benign), Testable gene in GeneTests
0.25RET-G691Shet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.16 (benign), Testable gene in GeneTests with associated GeneReview
0.25ERCC6-R1230Phet unknown0.031Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.891 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25ERCC6-G399Dhet unknown0.246Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MYO3A-R319Hhet unknown0.376Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MYO3A-I348Vhomozygous0.678Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MYO3A-V369Ihet unknown0.642Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MYO3A-S956Nhet unknown0.443Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MYO3A-R1313Shet unknown0.620Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PTF1A-S263Phet unknown0.654Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.981 (probably damaging), Testable gene in GeneTests
0.25SNX19-L878Rhet unknown0.808Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SNX19-L618Fhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SNX19-V361Lhet unknown0.671Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25HYLS1-C31Rhet unknown0.322Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests
0.25MTHFD1-K134Rhomozygous0.846Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MTHFD1-R653Qhet unknown0.320Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.008 (benign)
0.25FAM20C-I320Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25FAM20C-N564DhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MYH8-W1692Rhet unknown0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MYH8-C403*het unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Nonsense mutation, Testable gene in GeneTests
0.25FGA-T331Ahet unknown0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.306 (possibly damaging), Testable gene in GeneTests
0.25BBS12-R386Qhet unknown0.515Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview
0.25COX10-R159Qhet unknown0.494Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25LRRC48-R191Whomozygous0.578Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LRRC48-R444Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25AK298931-E88Qhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25AK298931-W38*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25AK298931-T4Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25GUCY2D-A52Shet unknown0.360Recessive
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.026 (benign), Testable gene in GeneTests with associated GeneReview
0.25GUCY2D-L782Hhet unknown0.165Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TLR3-L412Fhet unknown0.200Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.991 (probably damaging)
0.25MAP1B-I594Vhet unknown0.932Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MAP1B-K2465Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25NR_027336-P160Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25NR_027336-V73Fhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25NR_027336-W23*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25GHR-I544Lhet unknown0.473Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests
0.25CTNS-T260Ihet unknown0.825Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SLC6A19-V252Ihet unknown0.192Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CHRNB1-E32Ghet unknown0.172Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.288 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25MANBA-T701Mhet unknown0.554Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ADH1B-H48Rhet unknown0.678Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TBX4-G6Ahet unknown0.219Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.497 (possibly damaging), Testable gene in GeneTests
0.25TBX4-A314Vhet unknown0.206Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.267 (possibly damaging), Testable gene in GeneTests
0.25CRIPAK-H95Rhet unknown0.763Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.01 (benign)
0.25CRIPAK-C110Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25AXIN2-P50Shet unknown0.264Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25OPA1-S158Nhet unknown0.482Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.25EIF2B5-I587Vhet unknown0.370Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25CLCN2-T668Shet unknown0.378Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25C4orf44-V256Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C4orf44-S258Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25DOK7-H113Phet unknown0.183Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DOK7-R120Qhet unknown0.146Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DOK7-T137Ihet unknown0.177Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CNGA1-S3Fhet unknown0.401Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CNGA1-E2Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ERBB2-I655Vhet unknown0.121Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.18 (benign)
0.25ERBB2-P1170Ahet unknown0.275Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.983 (probably damaging)
0.25TLR6-S249Phet unknown0.855Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25KRT14-A94Thet unknown0.269Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25KRT14-C63Yhet unknown0.976Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BRCA1-S1634Ghet unknown0.292Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BRCA1-K1183Rhet unknown0.302Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BRCA1-E1038Ghet unknown0.265Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.462 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25BRCA1-P871Lhet unknown0.555Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25JUP-M697Lhet unknown0.520Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FANCA-G501Shet unknown0.654Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25USH1C-E819Dhet unknown0.408Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CDAN1-R891Chet unknown0.246Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25CDAN1-Q596Rhet unknown0.498Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CDAN1-Q107Lhet unknown0.175Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PRPH2-D338Ghet unknown0.761Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PRPH2-R310Khet unknown0.943Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PRPH2-Q304Ehet unknown0.877Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25KIF6-W719Rhet unknown0.538Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.01 (benign)
0.25SPG11-F463Shet unknown0.470Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TRIM15-S324Nhet unknown0.155Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25BAG6-T696Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25BAG6-S619Phet unknown0.459Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25COL9A1-Q621Rhet unknown0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ATXN3-V212Mhet unknown0.358Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SOD2-V16Ahet unknown0.362Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FLVCR2-V16Ahet unknown0.514Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25FLVCR2-P279Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYA4-G277Shet unknown0.467Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25RSPH4A-L589Phet unknown0.707Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SLC22A16-V252Ahet unknown0.086Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.609 (possibly damaging)
0.25SLC22A16-H49Rhet unknown0.333Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25COL10A1-G545Rhet unknown0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.774 (possibly damaging), Testable gene in GeneTests
0.25COL10A1-M27Thomozygous0.449Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25RNF39-A304Ehet unknown0.238Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RNF39-G263Chet unknown0.102Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RNF39-P260Ahet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25RNF39-S203Phet unknown0.223Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TNFRSF1B-M196Rhet unknown0.206Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.986 (probably damaging)
0.25PLEKHG4-T412Ihet unknown0.327Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.294 (possibly damaging)
0.25PLEKHG4-D525Ghet unknown0.338Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PLEKHG4-R830Hhet unknown0.322Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.795 (possibly damaging)
0.25PLEKHG4-Q1179Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25PLEKHG4-A1180Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SPINK5-Q267Rhet unknown0.475Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SPINK5-A335Vhet unknown0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SPINK5-S368Nhet unknown0.363Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SPINK5-K420Ehet unknown0.380Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SPINK5-R711Qhet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SRA1-V110RLhet unknown0.360Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25C5orf20-R117*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25C5orf20-N97Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C5orf20-T75Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SLC22A4-I306Thet unknown0.588Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25SLC22A4-L503Fhet unknown0.142Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TAT-P15Shet unknown0.110Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.25GM2A-I59Vhet unknown0.642Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25GM2A-M69Vhet unknown0.826Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25NIPAL4-R213Ghet unknown0.505Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25ADAMTSL3-H146Rhet unknown0.706Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.04 (benign)
0.25ADAMTSL3-L290Vhomozygous0.833Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ADAMTSL3-V661Lhet unknown0.711Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ADAMTSL3-G713Rhet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25ADAMTSL3-L869Fhomozygous0.272Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.148 (benign)
0.25SLC17A4-D13Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SLC17A4-A372Thet unknown0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25SLC28A1-L140LVhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SLC28A1-V189Ihet unknown0.313Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLC28A1-Q237Khet unknown0.241Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1-R739Qhet unknown1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25LITAF-I92Vhet unknown0.102Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ABAT-Q56Rhet unknown0.485Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FLT4-H890Qhet unknown0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.714 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0VCL-M1073Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0HFE-H63Dhet unknown0.086Recessive
pathogenic
Low clinical importance,
uncertain
There have been some hypotheses that this variant contributes to causing hereditary hemachromatosis, possibly as a compound heterozygote, but some others treat it as a polymorphism. Cys282Tyr is the classic causal variant and itself has very low penetrance. Mouse studies indicates this variant has a similar but weaker effect; if it has any effect at all its penetrance may be quite low and/or require modifier alleles.
0PHKB-M185Ihet unknown0.008Recessive
pathogenic
Moderate clinical importance,
uncertain
Reported to cause glycogen storage disease type IX in a recessive manner, but insufficient data is reported to establish significance.
0MBL2-G54Dhet unknown0.102Recessive
pathogenic
Low clinical importance,
likely
This variant is associated with mannose binding protein deficiency which leads to impaired complement system immune response to mannose-rich pathogens. Patients homozygous for this allele or compound heterozygous are likely to have increased susceptibility to infection, but Hellemann et al. report heterosis for intensive care outcomes in heterozygous subjects. The wild-type version of this gene is known as variant allele A, while this is called variant allele B. See R52C (variant D) and G57E (variant C).

Input file format: CGIVAR

Genome build: b37

Genome coverage: 2,774,331,104 bases (97.1% of callable positions, 90.1% of total positions)

Coding region coverage: 32,940,962 bases (99.0% of all genes, 99.5% of genes with clinical testing available)

Chromosomes: chr1, chr10, chr11, chr12, chr13, chr14, chr15, chr16, chr17, chr18, chr19, chr2, chr20, chr21, chr22, chr3, chr4, chr5, chr6, chr7, chr8, chr9, chrM, chrX, chrY

Gene search

"GENE" or "GENE A123C":

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