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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 6528302 6528302 T > C PLEKHG5 NM_001265593.1:c.2801A>G
NM_001265592.1:c.2831A>G
NM_001042665.1:c.2594A>G
NM_001042664.1:c.2594A>G
NM_020631.4:c.2594A>G
NM_198681.3:c.2825A>G
NM_001265594.1:c.2594A>G
NM_001042663.1:c.2762A>G
NP_001252522.1:p.Gln934Arg
NP_001252521.1:p.Gln944Arg
NP_001036130.1:p.Gln865Arg
NP_001036129.1:p.Gln865Arg
NP_065682.2:p.Gln865Arg
NP_941374.2:p.Gln942Arg
NP_001252523.1:p.Gln865Arg
NP_001036128.1:p.Gln921Arg
34/6075 0.00288 5 Common ExAC MAF original cat: TYPE_3 - non_synonymous Benign
View 1 7723407 7723407 C > - CAMTA1 NM_015215.2:c.806-5del
82/4281 0.00969 5 polypyrimidine_tract Benign
View 1 8716306 8716307 - > CGGTCC 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
48/4281 0.00561 5 in_frame_indel Benign
View 1 21889760 21889760 G > A ALPL TRNAN-GUU NM_000478.4:c.455G>A
NM_001177520.1:c.224G>A
NM_001127501.2:c.290G>A
NP_000469.3:p.Arg152His
NP_001170991.1:p.Arg75His
NP_001120973.2:p.Arg97His
155/6075 0.01292 5 Benign
View 1 22202856 22202856 T > G TRNAN-GUU HSPG2 NM_005529.5:c.2869A>C
NP_005520.4:p.Asn957His
57/6075 0.00486 5 Common ExAC MAF original cat: TYPE_3 - non_synonymous Benign
View 1 27087549 27087549 A > C TRNAN-GUU ARID1A NM_006015.4:c.2123A>C
NM_139135.2:c.2123A>C
NP_006006.3:p.Gln708Pro
NP_624361.1:p.Gln708Pro
2/4281 0.00023 5 non_synonymous Benign
View 1 27878415 27878415 G > A TRNAN-GUU AHDC1 NM_001029882.2:c.212C>T
NP_001025053.1:p.Thr71Ile
32/4281 0.00374 5 non_synonymous Benign
View 1 43396414 43396414 G > A TRNAN-GUU SLC2A1 NM_006516.2:c.399C>T
NM_006516.2:c.399C>T(p.%3D)
1422/4281 0.18325 5 Benign
View 1 45973124 45973124 G > C TRNAN-GUU MMACHC NM_015506.2:c.178G>C
NP_056321.2:p.Asp60His
78/6075 0.0065 5 Common ExAC MAF original cat: TYPE_3 - non_synonymous Benign
View 1 63021621 63021621 A > G DOCK7 TRNAN-GUU NM_001271999.1:c.2471T>C
NM_001272000.1:c.2471T>C
NM_033407.3:c.2471T>C
NM_001272001.1:c.2471T>C
NP_001258928.1:p.Ile824Thr
NP_001258929.1:p.Ile824Thr
NP_212132.2:p.Ile824Thr
NP_001258930.1:p.Ile824Thr
24/4281 0.00292 3 non_synonymous Benign
View 1 63085630 63085630 T > C TRNAN-GUU DOCK7 NM_033407.3:c.1460A>G
NM_001272000.1:c.1460A>G
NM_001271999.1:c.1460A>G
NM_001272001.1:c.1460A>G
NM_001272002.1:c.1460A>G
NP_212132.2:p.Lys487Arg
NP_001258929.1:p.Lys487Arg
NP_001258928.1:p.Lys487Arg
NP_001258930.1:p.Lys487Arg
NP_001258931.1:p.Lys487Arg
27/4281 0.00315 5 non_synonymous Benign
View 1 100681587 100681587 A > G TRNAN-GUU DBT ENST00000370132.4:c.724T>C
ENSP00000359151.3:p.Ser242Pro
119/6075 0.00979 5 non_synonymous Benign
View 1 103354135 103354135 G > C COL11A1 TRNAN-GUU NM_001190709.1:c.4489C>G
NM_080629.2:c.4642C>G
NM_080630.3:c.4258C>G
NM_001854.3:c.4606C>G
NP_001177638.1:p.Pro1497Ala
NP_542196.2:p.Pro1548Ala
NP_542197.3:p.Pro1420Ala
NP_001845.3:p.Pro1536Ala
81/4281 0.00969 5 non_synonymous Benign
View 1 116269619 116269619 T > C TRNAN-GUU CASQ2 NM_001232.3:c.731A>G
NP_001223.2:p.His244Arg
46/4281 0.00561 5 Benign
View 1 155210498 155210498 T > C GBA NM_001005742.2:c.38A>G
NM_001171812.1:c.38A>G
NM_000157.3:c.38A>G
NM_001171811.1:c.-146-630A>G
NM_001005741.2:c.38A>G
NP_001005742.1:p.Lys13Arg
NP_001165283.1:p.Lys13Arg
NP_000148.2:p.Lys13Arg
NP_001005741.1:p.Lys13Arg
54/6075 0.00461 5 Benign
View 1 156838432 156838432 C > T 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
55/6075 0.00453 5 Common ExAC MAF original cat: TYPE_3 - non_synonymous Benign
View 1 196965193 196965193 G > A CFHR5 NM_030787.3:c.832G>A
NP_110414.1:p.Gly278Ser
78/4281 0.00911 5 non_synonymous Benign
View 1 216051125 216051125 G > A USH2A ENST00000307340.3:c.8656C>T
ENSP00000305941.3:p.Leu2886Phe
558/6075 0.04815 5 Common ExAC MAF original cat: TYPE_3 - non_synonymous Benign
View 1 220369746 220369747 AA > - RAB3GAP2 NM_012414.3:c.812-7_812-6del
43/6075 0.00362 5 polypyrimidine_tract Benign
View 1 235909815 235909815 A > T LYST NM_000081.3:c.7793T>A
NP_000072.2:p.Phe2598Tyr
73/6075 0.00634 5 Common ExAC MAF original cat: TYPE_3 - non_synonymous Benign
View 1 235926164 235926164 T > - LYST NM_000081.3:c.6122-13del
76/6075 0.00658 5 Common ExAC MAF original cat: TYPE_3 - polypyrimidine_tract Benign
View 1 236914923 236914923 A > G ACTN2 ENST00000366578.4:c.1810A>G
NM_001278344.1:c.1186A>G
ENST00000542672.1:c.1810A>G
ENSP00000355537.4:p.Met604Val
NP_001265273.1:p.Met396Val
ENSP00000443495.1:p.Met604Val
23/4281 0.00269 5 Common ExAC MAF original cat: TYPE_3 - non_synonymous Benign
View 1 240256187 240256187 G > A FMN2 NM_020066.4:c.778G>A
NP_064450.3:p.Ala260Thr
14/4281 0.00175 3 non_synonymous Benign
View 10 43606650 43606650 C > T RET ENST00000355710.3:c.1264-5C>T
ENST00000340058.5:c.1264-5C>T
63/4281 0.00736 5 Benign
View 10 43609994 43609994 C > T RET ENST00000355710.3:c.1946C>T
ENST00000340058.5:c.1946C>T
ENSP00000347942.3:p.Ser649Leu
ENSP00000344798.4:p.Ser649Leu
2/4281 0.00023 5 Benign
View 10 72360648 72360648 C > T PRF1 NM_001083116.1:c.11G>A
NM_005041.4:c.11G>A
NP_001076585.1:p.Arg4His
NP_005032.2:p.Arg4His
64/6075 0.00543 5 Benign
View 10 76781852 76781863 GAGGAGGAAGAA > - KAT6B NM_001256468.1:c.2703_2714del
NM_001256469.1:c.2376_2387del
NM_012330.3:c.3252_3263del
NP_001243397.1:p.Glu903_Glu906del
NP_001243398.1:p.Glu794_Glu797del
NP_036462.2:p.Glu1086_Glu1089del
77/4281 0.00899 5 in_frame_indel Benign
View 10 76788660 76788668 GAAGAGGAA > - KAT6B NM_001256468.1:c.3548_3556del
NM_001256469.1:c.3221_3229del
NM_012330.3:c.4097_4105del
NP_001243397.1:p.Glu1183_Glu1185del
NP_001243398.1:p.Glu1074_Glu1076del
NP_036462.2:p.Glu1366_Glu1368del
78/4282 0.00922 5 in_frame_indel Benign
View 10 94413508 94413508 G > C KIF11 NM_004523.3:c.3126G>C
NP_004514.2:p.Leu1042Phe
29/4281 0.00339 5 non_synonymous Benign
View 10 123310871 123310871 A > G FGFR2 NM_001144914.1:c.557T>C
NM_000141.4:c.557T>C
NM_001144916.1:c.212T>C
NM_001144919.1:c.290T>C
NR_073009.1:n.859T>C
NM_022970.3:c.557T>C
NM_001144915.1:c.290T>C
NM_001144918.1:c.212T>C
NM_001144913.1:c.557T>C
NM_023029.2:c.290T>C
NM_001144917.1:c.557T>C
NP_001138386.1:p.Met186Thr
NP_000132.3:p.Met186Thr
NP_001138388.1:p.Met71Thr
NP_001138391.1:p.Met97Thr
NP_075259.4:p.Met186Thr
NP_001138387.1:p.Met97Thr
NP_001138390.1:p.Met71Thr
NP_001138385.1:p.Met186Thr
NP_075418.1:p.Met97Thr
NP_001138389.1:p.Met186Thr
235/4286 0.02998 5 Benign
View 11 6412854 6412854 C > T SMPD1 NM_001007593.2:c.556C>T
NM_000543.4:c.559C>T
NP_001007594.2:p.Pro186Ser
NP_000534.3:p.Pro187Ser
35/6075 0.00305 5 Common ExAC MAF original cat: TYPE_3 - non_synonymous Benign
View 11 6413182 6413182 G > A SMPD1 NM_001007593.2:c.884G>A
NM_000543.4:c.887G>A
NP_001007594.2:p.Arg295Gln
NP_000534.3:p.Arg296Gln
43/6075 0.0037 5 Benign
View 11 6636668 6636668 C > T TPP1 NM_000391.3:c.1266+5G>A
64/6075 0.00551 5 Common ExAC MAF original cat: TYPE_3 - five_prime_flank Benign
View 11 6638938 6638938 T > C TPP1 NM_000391.3:c.299A>G
NP_000382.3:p.Gln100Arg
37/6075 0.00313 5 Benign
View 11 7060977 7060977 A > T NLRP14 NM_176822.3:c.322A>T
NP_789792.1:p.Lys108Ter
31/4281 0.00374 1 Benign
View 11 17663382 17663382 C > A OTOG NM_001277269.1:c.8227-12C>A
25/4272 0.00304 5 polypyrimidine_tract Benign
View 11 34981990 34981990 G > A PDHX NM_003477.2:c.566G>A
NM_001135024.1:c.521G>A
NM_001166158.1:c.342+12837G>A
NP_003468.2:p.Arg189His
NP_001128496.1:p.Arg174His
25/6075 0.00206 3 non_synonymous Benign
View 11 36595760 36595760 C > A RAG1 ENST00000299440.5:c.906C>A
ENSP00000299440.5:p.Asp302Glu
71/6075 0.00593 5 Common ExAC MAF original cat: TYPE_3 - non_synonymous Benign
View 11 47469654 47469654 A > G RAPSN NM_005055.4:c.241T>C
NM_032645.4:c.241T>C
NP_005046.2:p.Phe81Leu
NP_116034.2:p.Phe81Leu
76/6075 0.00626 5 Common ExAC MAF original cat: TYPE_3 - non_synonymous Benign
View 11 66287196 66287196 G > A BBS1 NM_024649.4:c.700G>A
NP_078925.3:p.Glu234Lys
59/4281 0.00712 5 Benign
View 11 67807143 67807144 - > C TCIRG1 ENST00000265686.3:c.-5+560dupC
605/4449 0.13587 5 Benign
View 11 67813930 67813930 A > G TCIRG1 ENST00000265686.3:c.1166-970A>G
ENST00000532635.1:c.518-970A>G
646/6075 0.09588 5 Benign
View 11 67814979 67814979 G > C TCIRG1 ENST00000265686.3:c.1245G>C
ENST00000532635.1:c.597G>C
ENST00000265686.3:c.1245G>C(p.%3D)
ENST00000532635.1:c.597G>C(p.%3D)
6040/6075 0.98568 5 Common ExAC MAF original cat: TYPE_4 - synonymous Benign
View 11 67817991 67817992 - > GGCCTG TCIRG1 ENST00000265686.3:c.2285_2290dupTGGGCC
ENST00000532635.1:c.1637_1642dupTGGGCC
ENSP00000265686.3:p.Leu762_Gly763dup
ENSP00000434407.1:p.Leu546_Gly547dup
65/6075 0.00543 5 Common ExAC MAF original cat: TYPE_3 - in_frame_indel Benign
View 11 76868309 76868310 - > TGCCCACATTTT MYO7A NM_001127179.2:c.736-15_736-4dupTGCCCACATTTT
NM_000260.3:c.736-15_736-4dupTGCCCACATTTT
NM_001127180.1:c.736-15_736-4dupTGCCCACATTTT
66/6075 0.00551 5 Common ExAC MAF original cat: TYPE_3 - polypyrimidine_tract Benign
View 11 76925733 76925733 G > A MYO7A NM_001127180.1:c.6520G>A
NM_000260.3:c.6640G>A
NP_001120652.1:p.Gly2174Ser
NP_000251.3:p.Gly2214Ser
55/6075 0.00477 5 Common ExAC MAF original cat: TYPE_3 - non_synonymous Benign
View 11 108114727 108114727 G > C ATM ENST00000278616.4:c.544G>C
ENSP00000278616.4:p.Val182Leu
26/6075 0.00222 5 Benign
View 11 108121733 108121733 G > A ATM ENST00000278616.4:c.1541G>A
ENSP00000278616.4:p.Gly514Asp
46/6075 0.00379 5 Benign
View 11 108122592 108122592 C > G ATM ENST00000278616.4:c.1636C>G
ENSP00000278616.4:p.Leu546Val
37/6075 0.00313 5 Benign
View 11 108138045 108138045 C > T ATM ENST00000278616.4:c.2614C>T
ENSP00000278616.4:p.Pro872Ser
33/6075 0.0028 5 Benign
Displaying 1 through 50 of 434 variants