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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 237995837 237995837 C > G RYR2 NM_001035.2:c.14809-15C>G
87/6916 0.00629 5 polypyrimidine_tract Benign
View 1 240256187 240256187 G > A FMN2 NM_020066.4:c.778G>A
NP_064450.3:p.Ala260Thr
39/6955 0.00288 3 non_synonymous Benign
View 1 247587771 247587771 C > T NLRP3 NLRP3 NLRP3 NLRP3 NLRP3 ENST00000366497.2:c.1026C>T
ENST00000391827.2:c.1026C>T
ENST00000336119.3:c.1026C>T
ENST00000391828.3:c.1026C>T
ENST00000348069.2:c.1026C>T
ENSP00000355453.2:p.Pro342=
ENSP00000375703.2:p.Pro342=
ENSP00000337383.3:p.Pro342=
ENSP00000375704.3:p.Pro342=
ENSP00000294752.3:p.Pro342=
79/6956 0.00575 5 Benign
View 1 247608148 247608148 C > T NLRP3 NLRP3 NLRP3 NLRP3 NLRP3 ENST00000366497.2:c.2840+25C>T
ENST00000391827.2:c.2840+25C>T
ENST00000336119.3:c.3011+25C>T
ENST00000391828.3:c.3011+25C>T
ENST00000348069.2:c.2669+25C>T
131/6916 0.00954 4 Benign
View 10 43601830 43601830 G > A RET RET ENST00000340058.5:c.874G>A
ENST00000355710.3:c.874G>A
ENSP00000344798.4:p.Val292Met
ENSP00000347942.3:p.Val292Met
8/6955 0.00058 5 Benign
View 10 43606650 43606650 C > T RET RET ENST00000340058.5:c.1264-5C>T
ENST00000355710.3:c.1264-5C>T
111/6955 0.0082 5 Benign
View 10 43609994 43609994 C > T RET RET ENST00000340058.5:c.1946C>T
ENST00000355710.3:c.1946C>T
ENSP00000344798.4:p.Ser649Leu
ENSP00000347942.3:p.Ser649Leu
3/6955 0.00022 5 Benign
View 10 55581883 55581885 GTT > - PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 NM_001142763.1:c.5622_5624del
NM_001142773.1:c.5532_5534del
NM_001142765.1:c.5394_5396del
NM_001142764.1:c.5607_5609del
NM_033056.3:c.5601_5603del
NM_001142767.1:c.5481_5483del
NM_001142766.1:c.5592_5594del
NM_001142769.1:c.4409+3011_4409+3013del
NM_001142768.1:c.5541_5543del
NM_001142770.1:c.4373+3011_4373+3013del
NM_001142772.1:c.4373+3011_4373+3013del
NM_001142771.1:c.4388+3011_4388+3013del
NP_001136235.1:p.Thr1876del
NP_001136245.1:p.Thr1846del
NP_001136237.1:p.Thr1800del
NP_001136236.1:p.Thr1871del
NP_149045.3:p.Thr1869del
NP_001136239.1:p.Thr1829del
NP_001136238.1:p.Thr1866del
NP_001136240.1:p.Thr1849del
108/6955 0.00784 5 Benign
View 10 72360648 72360648 C > T PRF1 PRF1 NM_001083116.1:c.11G>A
NM_005041.4:c.11G>A
NP_001076585.1:p.Arg4His
NP_005032.2:p.Arg4His
96/8745 0.00566 5 Benign
View 10 73406348 73406348 G > A CDH23 CDH23 CDH23 CDH23 NM_001171931.1:c.1423G>A
NM_022124.5:c.1423G>A
NM_001171930.1:c.1423G>A
NM_052836.3:c.1423G>A
NP_001165402.1:p.Val475Met
NP_071407.4:p.Val475Met
NP_001165401.1:p.Val475Met
NP_443068.1:p.Val475Met
74/8745 0.00429 5 Benign
View 10 73476019 73476019 G > A C10orf105 C10orf105 CDH23 CDH23 NM_001164375.2:c.76C>T
NM_001168390.1:c.76C>T
NM_022124.5:c.3369+3449G>A
NM_001171930.1:c.3369+3449G>A
NP_001157847.1:p.Pro26Ser
NP_001161862.1:p.Pro26Ser
43/8706 0.00247 5 non_synonymous Benign
View 10 76781852 76781863 GAGGAGGAAGAA > - KAT6B KAT6B KAT6B NM_001256469.1:c.2376_2387del
NM_012330.3:c.3252_3263del
NM_001256468.1:c.2703_2714del
NP_001243398.1:p.Glu794_Glu797del
NP_036462.2:p.Glu1086_Glu1089del
NP_001243397.1:p.Glu903_Glu906del
127/6955 0.00913 5 in_frame_indel Benign
View 10 76788267 76788267 A > G KAT6B KAT6B KAT6B NM_001256469.1:c.2809A>G
NM_012330.3:c.3685A>G
NM_001256468.1:c.3136A>G
NP_001243398.1:p.Ser937Gly
NP_036462.2:p.Ser1229Gly
NP_001243397.1:p.Ser1046Gly
1/6955 7.0e-05 5 non_synonymous Benign
View 10 76788660 76788668 GAAGAGGAA > - KAT6B KAT6B KAT6B NM_001256469.1:c.3221_3229del
NM_012330.3:c.4097_4105del
NM_001256468.1:c.3548_3556del
NP_001243398.1:p.Glu1074_Glu1076del
NP_036462.2:p.Glu1366_Glu1368del
NP_001243397.1:p.Glu1183_Glu1185del
140/6956 0.01014 5 in_frame_indel Benign
View 10 89621800 89621800 A > T KLLN NM_001126049.1:c.445T>A
NP_001119521.1:p.Trp149Arg
71/6955 0.0051 5 Benign
View 10 89621853 89621853 T > C KLLN NM_001126049.1:c.392A>G
NP_001119521.1:p.Asn131Ser
71/6955 0.0051 5 Benign
View 10 89621863 89621863 G > C KLLN NM_001126049.1:c.382C>G
NP_001119521.1:p.Arg128Gly
58/6955 0.00417 5 Benign
View 10 94413508 94413508 G > C KIF11 NM_004523.3:c.3126G>C
NP_004514.2:p.Leu1042Phe
62/6955 0.00446 5 non_synonymous Benign
View 10 95518462 95518462 T > C LGI1 ENST00000371418.4:c.216-55T>C
115/6916 0.00853 5 Benign
View 10 102732739 102732739 C > T SEMA4G SEMA4G NM_001203244.1:c.70C>T
NM_017893.3:c.70C>T
NP_001190173.1:p.Arg24Trp
NP_060363.2:p.Arg24Trp
5/6955 0.00036 5 non_synonymous Benign
View 10 103825629 103825629 C > T HPS6 NM_024747.5:c.398C>T
NP_079023.2:p.Ala133Val
34/6955 0.00273 5 non_synonymous Benign
View 10 112771351 112771352 - > T SHOC2 SHOC2 NM_001269039.1:c.1403-7dupT
NM_007373.3:c.1541-7dupT
29/6916 0.0021 5 three_prime_flank Benign
View 10 112771421 112771421 A > G SHOC2 SHOC2 NM_001269039.1:c.1456A>G
NM_007373.3:c.1594A>G
NP_001255968.1:p.Ser486Gly
NP_031399.2:p.Ser532Gly
17/6955 0.00122 5 non_synonymous Benign
View 10 123310871 123310871 A > G FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 NR_073009.1:n.859T>C
NM_001144913.1:c.557T>C
NM_001144914.1:c.557T>C
NM_000141.4:c.557T>C
NM_023029.2:c.290T>C
NM_001144919.1:c.290T>C
NM_001144915.1:c.290T>C
NM_001144916.1:c.212T>C
NM_001144917.1:c.557T>C
NM_022970.3:c.557T>C
NM_001144918.1:c.212T>C
NP_001138385.1:p.Met186Thr
NP_001138386.1:p.Met186Thr
NP_000132.3:p.Met186Thr
NP_075418.1:p.Met97Thr
NP_001138391.1:p.Met97Thr
NP_001138387.1:p.Met97Thr
NP_001138388.1:p.Met71Thr
NP_001138389.1:p.Met186Thr
NP_075259.4:p.Met186Thr
NP_001138390.1:p.Met71Thr
457/6960 0.037 5 Benign
View 11 640253 640253 C > G DRD4 NM_000797.3:c.1004C>G
NP_000788.2:p.Ala335Gly
44/6955 0.00316 5 non_synonymous Benign
View 11 1271906 1271906 C > T MUC5B NM_002458.2:c.13796C>T
NP_002449.2:p.Thr4599Met
72/6916 0.00535 5 non_synonymous Benign
View 11 6412854 6412854 C > T SMPD1 SMPD1 NM_000543.4:c.559C>T
NM_001007593.2:c.556C>T
NP_000534.3:p.Pro187Ser
NP_001007594.2:p.Pro186Ser
63/8745 0.00377 5 Common ExAC MAF original cat: TYPE_3 - non_synonymous Benign
View 11 6413182 6413182 G > A SMPD1 SMPD1 NM_000543.4:c.887G>A
NM_001007593.2:c.884G>A
NP_000534.3:p.Arg296Gln
NP_001007594.2:p.Arg295Gln
65/8745 0.00395 5 Benign
View 11 6636668 6636668 C > T TPP1 NM_000391.3:c.1266+5G>A
102/8745 0.006 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
60/8745 0.00349 5 Benign
View 11 6648332 6648332 T > A DCHS1 ENST00000299441.3:c.5938A>T
ENSP00000299441.3:p.Thr1980Ser
56/6955 0.0041 5 non_synonymous Benign
View 11 7060977 7060977 A > T NLRP14 NM_176822.3:c.322A>T
NP_789792.1:p.Lys108Ter
74/6955 0.00539 1 Benign
View 11 9871781 9871784 GATT > - SBF2 NM_030962.3:c.2611-19_2611-16del
90/6917 0.00672 5 three_prime_flank Benign
View 11 17663382 17663382 C > A OTOG NM_001277269.1:c.8227-12C>A
54/6907 0.00405 5 polypyrimidine_tract Benign
View 11 34981990 34981990 G > A PDHX PDHX PDHX NM_001166158.1:c.342+12837G>A
NM_003477.2:c.566G>A
NM_001135024.1:c.521G>A
NP_003468.2:p.Arg189His
NP_001128496.1:p.Arg174His
43/8745 0.00246 4 Common ExAC MAF original cat: TYPE_3 - non_synonymous Benign
View 11 36595760 36595760 C > A RAG1 ENST00000299440.5:c.906C>A
ENSP00000299440.5:p.Asp302Glu
109/8745 0.00635 5 Common ExAC MAF original cat: TYPE_3 - non_synonymous Benign
View 11 44129386 44129386 A > G EXT2 EXT2 EXT2 NM_000401.3:c.223A>G
NM_001178083.1:c.124A>G
NM_207122.1:c.124A>G
NP_000392.3:p.Met75Val
NP_001171554.1:p.Met42Val
NP_997005.1:p.Met42Val
49/6956 0.00359 5 non_synonymous Benign
View 11 47469654 47469654 A > G RAPSN RAPSN NM_032645.4:c.241T>C
NM_005055.4:c.241T>C
NP_116034.2:p.Phe81Leu
NP_005046.2:p.Phe81Leu
120/8745 0.00686 5 Common ExAC MAF original cat: TYPE_3 - non_synonymous Benign
View 11 61724453 61724453 C > A BEST1 BEST1 NM_001139443.1:c.439C>A
NM_004183.3:c.619C>A
NP_001132915.1:p.Leu147Ile
NP_004174.1:p.Leu207Ile
63/6955 0.0046 5 Benign
View 11 66287196 66287196 G > A BBS1 NM_024649.4:c.700G>A
NP_078925.3:p.Glu234Lys
122/6955 0.00906 5 Benign
View 11 67807143 67807144 - > C TCIRG1 ENST00000265686.3:c.-5+560dupC
708/4546 0.15563 5 ClinVar Benign variant Benign
View 11 67813930 67813930 A > G TCIRG1 TCIRG1 ENST00000265686.3:c.1166-970A>G
ENST00000532635.1:c.518-970A>G
744/8709 0.07699 5 ClinVar Benign variant Benign
View 11 67814979 67814979 G > C TCIRG1 TCIRG1 ENST00000265686.3:c.1245G>C
ENST00000532635.1:c.597G>C
ENSP00000265686.3:p.Leu415=
ENSP00000434407.1:p.Leu199=
8630/8745 0.97867 5 ClinVar Benign variant Benign
View 11 67817991 67817992 - > GGCCTG TCIRG1 TCIRG1 ENST00000265686.3:c.2285_2290dupTGGGCC
ENST00000532635.1:c.1637_1642dupTGGGCC
ENSP00000265686.3:p.Leu762_Gly763dup
ENSP00000434407.1:p.Leu546_Gly547dup
114/8745 0.00675 5 Common ExAC MAF original cat: TYPE_3 - in_frame_indel Benign
View 11 70858151 70858151 G > A SHANK2 NM_012309.3:c.207+15C>T
24/6916 0.00174 5 five_prime_intronic Benign
View 11 76868309 76868310 - > TGCCCACATTTT MYO7A MYO7A MYO7A NM_000260.3:c.736-15_736-4dupTGCCCACATTTT
NM_001127179.2:c.736-15_736-4dupTGCCCACATTTT
NM_001127180.1:c.736-15_736-4dupTGCCCACATTTT
90/8706 0.00528 5 Common ExAC MAF original cat: TYPE_3 - polypyrimidine_tract Benign
View 11 76925733 76925733 G > A MYO7A MYO7A NM_000260.3:c.6640G>A
NM_001127180.1:c.6520G>A
NP_000251.3:p.Gly2214Ser
NP_001120652.1:p.Gly2174Ser
82/8745 0.00497 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
40/8745 0.00234 5 Benign
View 11 108121733 108121733 G > A ATM ENST00000278616.4:c.1541G>A
ENSP00000278616.4:p.Gly514Asp
89/8745 0.00515 5 Benign
View 11 108122592 108122592 C > G ATM ENST00000278616.4:c.1636C>G
ENSP00000278616.4:p.Leu546Val
59/8745 0.00343 5 Benign
Displaying 50 through 100 of 797 variants