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Chr Start Stop Change Gene(s) HGVS_C HGVS_P Sample Count CMH MAF ACMG Cat. ACMG Note Curation
View 1 6508945 6508945 C > T ESPN NM_031475.2:c.1709C>T
NP_113663.2:p.Pro570Leu
56/6955 0.0041 5 non_synonymous Benign
View 1 6528302 6528302 T > C PLEKHG5 PLEKHG5 PLEKHG5 PLEKHG5 PLEKHG5 PLEKHG5 PLEKHG5 PLEKHG5 NM_001042663.1:c.2762A>G
NM_001042665.1:c.2594A>G
NM_001042664.1:c.2594A>G
NM_001265593.1:c.2801A>G
NM_020631.4:c.2594A>G
NM_001265594.1:c.2594A>G
NM_001265592.1:c.2831A>G
NM_198681.3:c.2825A>G
NP_001036128.1:p.Gln921Arg
NP_001036130.1:p.Gln865Arg
NP_001036129.1:p.Gln865Arg
NP_001252522.1:p.Gln934Arg
NP_065682.2:p.Gln865Arg
NP_001252523.1:p.Gln865Arg
NP_001252521.1:p.Gln944Arg
NP_941374.2:p.Gln942Arg
59/8745 0.00343 5 Common ExAC MAF original cat: TYPE_3 - non_synonymous Benign
View 1 7723407 7723407 C > - CAMTA1 NM_015215.2:c.806-5del
131/6955 0.00949 5 polypyrimidine_tract Benign
View 1 8420503 8420503 G > C RERE RERE RERE NM_012102.3:c.3064C>G
NM_001042682.1:c.1402C>G
NM_001042681.1:c.3064C>G
NP_036234.3:p.Pro1022Ala
NP_001036147.1:p.Pro468Ala
NP_001036146.1:p.Pro1022Ala
25/6955 0.00187 5 non_synonymous Benign
View 1 8526071 8526071 C > T RERE RERE NM_012102.3:c.1117G>A
NM_001042681.1:c.1117G>A
NP_036234.3:p.Gly373Ser
NP_001036146.1:p.Gly373Ser
31/6955 0.00223 5 non_synonymous Benign
View 1 8716306 8716307 - > CGGTCC RERE RERE NM_012102.3:c.45_50dupGGACCG
NM_001042681.1:c.45_50dupGGACCG
NP_036234.3:p.Asp20_Arg21dup
NP_001036146.1:p.Asp20_Arg21dup
92/6955 0.00661 5 in_frame_indel Benign
View 1 12071540 12071540 C > A MFN2 MFN2 NM_001127660.1:c.2205-13C>A
NM_014874.3:c.2205-13C>A
38/6916 0.00275 5 polypyrimidine_tract Benign
View 1 17380507 17380507 G > C SDHB TRNAN-GUU NM_003000.2:c.8C>G
NP_002991.2:p.Ala3Gly
40/6955 0.00288 5 Benign
View 1 21889760 21889760 G > A TRNAN-GUU ALPL ALPL ALPL ENST00000374840.3:c.455G>A
ENST00000539907.1:c.224G>A
ENST00000540617.1:c.290G>A
ENSP00000363973.3:p.Arg152His
ENSP00000437674.1:p.Arg75His
ENSP00000442672.1:p.Arg97His
207/8745 0.01201 5 Benign
View 1 22202856 22202856 T > G TRNAN-GUU HSPG2 NM_005529.5:c.2869A>C
NP_005520.4:p.Asn957His
83/8745 0.00486 5 Common ExAC MAF original cat: TYPE_3 - non_synonymous Benign
View 1 27023252 27023252 C > T ARID1A TRNAN-GUU ARID1A NM_139135.2:c.358C>T
NM_006015.4:c.358C>T
NP_624361.1:p.Pro120Ser
NP_006006.3:p.Pro120Ser
13/6955 0.00093 5 Benign
View 1 27087549 27087549 A > C ARID1A TRNAN-GUU ARID1A NM_139135.2:c.2123A>C
NM_006015.4:c.2123A>C
NP_624361.1:p.Gln708Pro
NP_006006.3:p.Gln708Pro
9/6955 0.00065 5 non_synonymous Benign
View 1 27690770 27690770 A > C TRNAN-GUU MAP3K6 NM_004672.3:c.620T>G
NP_004663.3:p.Val207Gly
120/6955 0.00913 5 Benign
View 1 27878415 27878415 G > A TRNAN-GUU AHDC1 NM_001029882.2:c.212C>T
NP_001025053.1:p.Thr71Ile
58/6955 0.00417 3 non_synonymous Benign
View 1 43396414 43396414 G > A TRNAN-GUU SLC2A1 NM_006516.2:c.399C>T
NP_006507.2:p.Cys133=
2299/6955 0.18246 5 Benign
View 1 45973124 45973124 G > C TRNAN-GUU MMACHC NM_015506.2:c.178G>C
NP_056321.2:p.Asp60His
124/8745 0.00738 5 Common ExAC MAF original cat: TYPE_3 - non_synonymous Benign
View 1 52861899 52861899 T > G ORC1 TRNAN-GUU ORC1 ORC1 NM_001190818.1:c.540A>C
NM_004153.3:c.540A>C
NM_001190819.1:c.540A>C
NP_001177747.1:p.Gln180His
NP_004144.2:p.Gln180His
NP_001177748.1:p.Gln180His
49/6955 0.00367 5 non_synonymous Benign
View 1 53676401 53676401 T > G TRNAN-GUU CPT2 NM_000098.2:c.1055T>G
NP_000089.1:p.Phe352Cys
133/8745 0.00789 5 Benign
View 1 63021621 63021621 A > G DOCK7 TRNAN-GUU DOCK7 DOCK7 DOCK7 NM_001272000.1:c.2471T>C
NM_001271999.1:c.2471T>C
NM_033407.3:c.2471T>C
NM_001272001.1:c.2471T>C
NP_001258929.1:p.Ile824Thr
NP_001258928.1:p.Ile824Thr
NP_212132.2:p.Ile824Thr
NP_001258930.1:p.Ile824Thr
35/6955 0.00266 4 Common ExAC MAF original cat: TYPE_3 - non_synonymous Benign
View 1 63085630 63085630 T > C DOCK7 TRNAN-GUU DOCK7 DOCK7 DOCK7 DOCK7 NM_001272000.1:c.1460A>G
NM_001271999.1:c.1460A>G
NM_033407.3:c.1460A>G
NM_001272002.1:c.1460A>G
NM_001272001.1:c.1460A>G
NP_001258929.1:p.Lys487Arg
NP_001258928.1:p.Lys487Arg
NP_212132.2:p.Lys487Arg
NP_001258931.1:p.Lys487Arg
NP_001258930.1:p.Lys487Arg
47/6955 0.00338 5 non_synonymous Benign
View 1 68897002 68897002 G > A TRNAN-GUU RPE65 NM_000329.2:c.1301C>T
NP_000320.1:p.Ala434Val
84/6955 0.00633 5 Benign
View 1 94497563 94497563 C > T TRNAN-GUU ABCA4 ENST00000370225.3:c.3899G>A
ENSP00000359245.3:p.Arg1300Gln
77/6955 0.00568 5 Benign
View 1 94505604 94505604 A > C TRNAN-GUU ABCA4 ENST00000370225.3:c.3602T>G
ENSP00000359245.3:p.Leu1201Arg
110/6955 0.00841 5 Benign
View 1 100681587 100681587 A > G TRNAN-GUU DBT ENST00000370132.4:c.724T>C
ENSP00000359151.3:p.Ser242Pro
157/8745 0.00903 5 non_synonymous Benign
View 1 103354135 103354135 G > C COL11A1 TRNAN-GUU COL11A1 COL11A1 COL11A1 NM_080629.2:c.4642C>G
NM_001854.3:c.4606C>G
NM_001190709.1:c.4489C>G
NM_080630.3:c.4258C>G
NP_542196.2:p.Pro1548Ala
NP_001845.3:p.Pro1536Ala
NP_001177638.1:p.Pro1497Ala
NP_542197.3:p.Pro1420Ala
137/6955 0.00999 5 non_synonymous Benign
View 1 103444970 103444970 A > T COL11A1 TRNAN-GUU COL11A1 COL11A1 COL11A1 NM_080629.2:c.2614T>A
NM_001854.3:c.2578T>A
NM_001190709.1:c.2461T>A
NM_080630.3:c.2230T>A
NP_542196.2:p.Phe872Ile
NP_001845.3:p.Phe860Ile
NP_001177638.1:p.Phe821Ile
NP_542197.3:p.Phe744Ile
62/6955 0.00446 5 Benign
View 1 116269619 116269619 T > C CASQ2 TRNAN-GUU NM_001232.3:c.731A>G
NP_001223.2:p.His244Arg
83/6955 0.0064 5 Benign
View 1 120465262 120465262 C > T TRNAN-GUU NOTCH2 NM_024408.3:c.4999G>A
NP_077719.2:p.Val1667Ile
42/6955 0.00309 5 non_synonymous Benign
View 1 120491644 120491644 G > A NOTCH2 TRNAN-GUU NOTCH2 NM_001200001.1:c.2585C>T
NM_024408.3:c.2585C>T
NP_001186930.1:p.Ala862Val
NP_077719.2:p.Ala862Val
9/6955 0.00065 5 non_synonymous Benign
View 1 120572547 120572547 T > C NOTCH2 TRNAN-GUU NOTCH2 NM_001200001.1:c.137A>G
NM_024408.3:c.137A>G
NP_001186930.1:p.Asn46Ser
NP_077719.2:p.Asn46Ser
4522/6955 0.32602 5 non_synonymous Benign
View 1 120572572 120572572 C > T NOTCH2 TRNAN-GUU NOTCH2 NM_001200001.1:c.112G>A
NM_024408.3:c.112G>A
NP_001186930.1:p.Glu38Lys
NP_077719.2:p.Glu38Lys
4576/6955 0.32976 5 non_synonymous Benign
View 1 120611964 120611964 G > C NOTCH2 TRNAN-GUU NOTCH2 NM_001200001.1:c.57C>G
NM_024408.3:c.57C>G
NP_001186930.1:p.Cys19Trp
NP_077719.2:p.Cys19Trp
5853/6962 0.42179 5 non_synonymous Benign
View 1 155210498 155210498 T > C GBA GBA GBA GBA GBA NM_001171812.1:c.38A>G
NM_001171811.1:c.-146-630A>G
NM_001005741.2:c.38A>G
NM_001005742.2:c.38A>G
NM_000157.3:c.38A>G
NP_001165283.1:p.Lys13Arg
NP_001005741.1:p.Lys13Arg
NP_001005742.1:p.Lys13Arg
NP_000148.2:p.Lys13Arg
112/8745 0.00669 5 Benign
View 1 156105961 156105961 C > T LMNA LMNA LMNA LMNA LMNA LMNA NM_001257374.1:c.822-44C>T
NM_005572.3:c.1158-44C>T
NR_047544.1:n.1799-44C>T
NR_047545.1:n.1046-44C>T
NM_170707.3:c.1158-44C>T
NM_170708.3:c.1158-44C>T
105/7570 0.00694 4 Benign
View 1 156838432 156838432 C > T NTRK1 NTRK1 NTRK1 NM_001007792.1:c.620C>T
NM_002529.3:c.710C>T
NM_001012331.1:c.710C>T
NP_001007793.1:p.Thr207Met
NP_002520.2:p.Thr237Met
NP_001012331.1:p.Thr237Met
90/8745 0.0052 5 Common ExAC MAF original cat: TYPE_3 - non_synonymous Benign
View 1 162741795 162741795 G > A DDR2 DDR2 NM_001014796.1:c.1505-19G>A
NM_006182.2:c.1505-19G>A
73/6918 0.00528 5 three_prime_flank Benign
View 1 173797448 173797449 - > T DARS2 NM_018122.4:c.228-20dupT
24/6916 0.00174 5 ClinVar pathogenic variant Benign
View 1 196965193 196965193 G > A CFHR5 NM_030787.3:c.832G>A
NP_110414.1:p.Gly278Ser
123/6955 0.00884 5 non_synonymous Benign
View 1 197072560 197072560 A > G ASPM ASPM NM_001206846.1:c.4066-7266T>C
NM_018136.4:c.5821T>C
NP_060606.3:p.Cys1941Arg
49/6955 0.00352 5 non_synonymous Benign
View 1 197072802 197072802 G > A ASPM ASPM NM_001206846.1:c.4066-7508C>T
NM_018136.4:c.5579C>T
NP_060606.3:p.Ala1860Val
48/6955 0.00345 5 non_synonymous Benign
View 1 197073318 197073318 G > A ASPM ASPM NM_001206846.1:c.4066-8024C>T
NM_018136.4:c.5063C>T
NP_060606.3:p.Thr1688Ile
49/6955 0.00352 5 non_synonymous Benign
View 1 197112094 197112094 T > C ASPM ASPM NM_001206846.1:c.1288A>G
NM_018136.4:c.1288A>G
NP_001193775.1:p.Arg430Gly
NP_060606.3:p.Arg430Gly
43/6955 0.00309 5 non_synonymous Benign
View 1 215848808 215848808 A > G USH2A ENST00000307340.3:c.12445T>C
ENSP00000305941.3:p.Trp4149Arg
50/8745 0.00286 5 Benign
View 1 216051125 216051125 G > A USH2A ENST00000307340.3:c.8656C>T
ENSP00000305941.3:p.Leu2886Phe
816/8745 0.04894 5 Common ExAC MAF original cat: TYPE_3 - non_synonymous Benign
View 1 216166454 216166454 T > G USH2A ENST00000307340.3:c.6713A>C
ENSP00000305941.3:p.Glu2238Ala
398/8745 0.0231 5 Benign
View 1 216172299 216172299 C > G USH2A ENST00000307340.3:c.6587G>C
ENSP00000305941.3:p.Ser2196Thr
185/8745 0.01121 5 Benign
View 1 220369746 220369747 AA > - RAB3GAP2 NM_012414.3:c.812-7_812-6del
62/8745 0.0036 5 polypyrimidine_tract Benign
View 1 235909815 235909815 A > T LYST NM_000081.3:c.7793T>A
NP_000072.2:p.Phe2598Tyr
109/8745 0.00646 5 Common ExAC MAF original cat: TYPE_3 - non_synonymous Benign
View 1 235926164 235926164 T > - LYST NM_000081.3:c.6122-13del
110/8706 0.00655 5 Common ExAC MAF original cat: TYPE_3 - polypyrimidine_tract Benign
View 1 236914923 236914923 A > G ACTN2 ACTN2 ACTN2 ENST00000542672.1:c.1810A>G
NM_001278344.1:c.1186A>G
ENST00000366578.4:c.1810A>G
ENSP00000443495.1:p.Met604Val
NP_001265273.1:p.Met396Val
ENSP00000355537.4:p.Met604Val
65/6955 0.00474 5 Common ExAC MAF original cat: TYPE_3 - non_synonymous Benign
Displaying 1 through 50 of 797 variants