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Chr Start Stop Change Gene(s) HGVS_C HGVS_P Sample Count CMH MAF ACMG Cat. ACMG Note Curation
View 10 73476019 73476019 G > A CDH23 C10orf105 CDH23 C10orf105 NM_022124.5:c.3369+3449G>A
NM_001168390.1:c.76C>T
NM_001171930.1:c.3369+3449G>A
NM_001164375.2:c.76C>T
NP_001161862.1:p.Pro26Ser
NP_001157847.1:p.Pro26Ser
38/7965 0.00239 5 non_synonymous Benign
View 10 76781852 76781863 GAGGAGGAAGAA > - KAT6B KAT6B KAT6B NM_001256469.1:c.2376_2387del
NM_001256468.1:c.2703_2714del
NM_012330.3:c.3252_3263del
NP_001243398.1:p.Glu794_Glu797del
NP_001243397.1:p.Glu903_Glu906del
NP_036462.2:p.Glu1086_Glu1089del
112/6213 0.00901 5 in_frame_indel Benign
View 10 76788267 76788267 A > G KAT6B KAT6B KAT6B NM_001256469.1:c.2809A>G
NM_001256468.1:c.3136A>G
NM_012330.3:c.3685A>G
NP_001243398.1:p.Ser937Gly
NP_001243397.1:p.Ser1046Gly
NP_036462.2:p.Ser1229Gly
1/6213 8.0e-05 5 non_synonymous Benign
View 10 76788660 76788668 GAAGAGGAA > - KAT6B KAT6B KAT6B NM_001256469.1:c.3221_3229del
NM_001256468.1:c.3548_3556del
NM_012330.3:c.4097_4105del
NP_001243398.1:p.Glu1074_Glu1076del
NP_001243397.1:p.Glu1183_Glu1185del
NP_036462.2:p.Glu1366_Glu1368del
126/6214 0.01022 5 in_frame_indel Benign
View 10 94413508 94413508 G > C KIF11 NM_004523.3:c.3126G>C
NP_004514.2:p.Leu1042Phe
55/6213 0.00443 5 non_synonymous Benign
View 10 95518462 95518462 T > C LGI1 ENST00000371418.4:c.216-55T>C
90/6174 0.00737 5 Benign
View 10 102732739 102732739 C > T SEMA4G SEMA4G NM_017893.3:c.70C>T
NM_001203244.1:c.70C>T
NP_060363.2:p.Arg24Trp
NP_001190173.1:p.Arg24Trp
4/6213 0.00032 5 non_synonymous Benign
View 10 103825629 103825629 C > T HPS6 NM_024747.5:c.398C>T
NP_079023.2:p.Ala133Val
31/6213 0.00282 5 non_synonymous Benign
View 10 112771351 112771352 - > T SHOC2 SHOC2 NM_001269039.1:c.1403-7dupT
NM_007373.3:c.1541-7dupT
27/6174 0.00219 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
16/6213 0.00129 5 non_synonymous Benign
View 10 123310871 123310871 A > G FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 NM_001144916.1:c.212T>C
NM_001144914.1:c.557T>C
NM_000141.4:c.557T>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_001138388.1:p.Met71Thr
NP_001138386.1:p.Met186Thr
NP_000132.3:p.Met186Thr
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
384/6218 0.03466 5 Benign
View 11 640253 640253 C > G DRD4 NM_000797.3:c.1004C>G
NP_000788.2:p.Ala335Gly
41/6213 0.0033 5 non_synonymous Benign
View 11 6412854 6412854 C > T SMPD1 SMPD1 NM_001007593.2:c.556C>T
NM_000543.4:c.559C>T
NP_001007594.2:p.Pro186Ser
NP_000534.3:p.Pro187Ser
55/8004 0.00362 5 Common ExAC MAF original cat: TYPE_3 - non_synonymous Benign
View 11 6413182 6413182 G > A SMPD1 SMPD1 NM_001007593.2:c.884G>A
NM_000543.4:c.887G>A
NP_001007594.2:p.Arg295Gln
NP_000534.3:p.Arg296Gln
59/8004 0.00394 5 Benign
View 11 6636668 6636668 C > T TPP1 NM_000391.3:c.1266+5G>A
91/8004 0.00587 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
51/8004 0.00325 5 Benign
View 11 6648332 6648332 T > A DCHS1 ENST00000299441.3:c.5938A>T
ENSP00000299441.3:p.Thr1980Ser
45/6213 0.0037 5 non_synonymous Benign
View 11 7060977 7060977 A > T NLRP14 NM_176822.3:c.322A>T
NP_789792.1:p.Lys108Ter
64/6213 0.00523 1 Benign
View 11 9871781 9871784 GATT > - SBF2 NM_030962.3:c.2611-19_2611-16del
80/6175 0.00672 5 three_prime_flank Benign
View 11 17663382 17663382 C > A OTOG NM_001277269.1:c.8227-12C>A
47/6165 0.00397 5 polypyrimidine_tract Benign
View 11 34981990 34981990 G > A PDHX PDHX 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
41/8004 0.00256 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
96/8004 0.00612 5 Common ExAC MAF original cat: TYPE_3 - non_synonymous Benign
View 11 44129386 44129386 A > G EXT2 EXT2 EXT2 NM_001178083.1:c.124A>G
NM_207122.1:c.124A>G
NM_000401.3:c.223A>G
NP_001171554.1:p.Met42Val
NP_997005.1:p.Met42Val
NP_000392.3:p.Met75Val
43/6214 0.00354 5 non_synonymous Benign
View 11 47469654 47469654 A > G RAPSN RAPSN NM_005055.4:c.241T>C
NM_032645.4:c.241T>C
NP_005046.2:p.Phe81Leu
NP_116034.2:p.Phe81Leu
110/8004 0.00687 5 Common ExAC MAF original cat: TYPE_3 - non_synonymous Benign
View 11 61724453 61724453 C > A BEST1 BEST1 NM_004183.3:c.619C>A
NM_001139443.1:c.439C>A
NP_004174.1:p.Leu207Ile
NP_001132915.1:p.Leu147Ile
59/6213 0.00483 5 Benign
View 11 66287196 66287196 G > A BBS1 NM_024649.4:c.700G>A
NP_078925.3:p.Glu234Lys
104/6213 0.00861 5 Benign
View 11 67807143 67807144 - > C TCIRG1 ENST00000265686.3:c.-5+560dupC
693/4531 0.15284 5 ClinVar non-pathogenic variant Benign
View 11 67813930 67813930 A > G TCIRG1 TCIRG1 ENST00000265686.3:c.1166-970A>G
ENST00000532635.1:c.518-970A>G
728/7968 0.0822 5 ClinVar non-pathogenic 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=
7890/8004 0.9777 5 ClinVar non-pathogenic 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
101/8004 0.00656 5 Common ExAC MAF original cat: TYPE_3 - in_frame_indel Benign
View 11 76868309 76868310 - > TGCCCACATTTT MYO7A MYO7A MYO7A NM_001127180.1:c.736-15_736-4dupTGCCCACATTTT
NM_000260.3:c.736-15_736-4dupTGCCCACATTTT
NM_001127179.2:c.736-15_736-4dupTGCCCACATTTT
83/7965 0.00534 5 Common ExAC MAF original cat: TYPE_3 - polypyrimidine_tract Benign
View 11 76925733 76925733 G > A MYO7A MYO7A NM_001127180.1:c.6520G>A
NM_000260.3:c.6640G>A
NP_001120652.1:p.Gly2174Ser
NP_000251.3:p.Gly2214Ser
75/8004 0.005 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
39/8004 0.0025 5 Benign
View 11 108121733 108121733 G > A ATM ENST00000278616.4:c.1541G>A
ENSP00000278616.4:p.Gly514Asp
79/8004 0.005 5 Benign
View 11 108122592 108122592 C > G ATM ENST00000278616.4:c.1636C>G
ENSP00000278616.4:p.Leu546Val
52/8004 0.00331 5 Benign
View 11 108138045 108138045 C > T ATM ENST00000278616.4:c.2614C>T
ENSP00000278616.4:p.Pro872Ser
46/8004 0.00294 5 Benign
View 11 108151707 108151708 - > T ATM ENST00000278616.4:c.3403-15dupT
27/7965 0.00176 5 polypyrimidine_tract Benign
View 11 113857661 113857661 G > A HTR3A HTR3A HTR3A HTR3A NM_000869.5:c.1049G>A
NM_213621.3:c.1145G>A
NR_046363.1:n.1121G>A
NM_001161772.2:c.986G>A
NP_000860.2:p.Arg350His
NP_998786.2:p.Arg382His
NP_001155244.1:p.Arg329His
106/6213 0.00877 5 Benign
View 11 117252491 117252491 C > G CEP164 CEP164 NM_014956.4:c.1484C>G
NM_001271933.1:c.1493C>G
NP_055771.4:p.Pro495Arg
NP_001258862.1:p.Pro498Arg
9/6213 0.0008 5 non_synonymous Benign
View 11 118343378 118343378 G > A KMT2A KMT2A NM_001197104.1:c.1504G>A
NM_005933.3:c.1504G>A
NP_001184033.1:p.Glu502Lys
NP_005924.2:p.Glu502Lys
73/6213 0.00587 5 non_synonymous Benign
View 11 118373179 118373179 G > A KMT2A KMT2A NM_001197104.1:c.6572G>A
NM_005933.3:c.6563G>A
NP_001184033.1:p.Arg2191Gln
NP_005924.2:p.Arg2188Gln
16/6213 0.00129 3 non_synonymous Benign
View 11 119145667 119145667 A > G CBL NM_005188.3:c.869+4A>G
59/6213 0.00491 5 Common ExAC MAF original cat: TYPE_3 - five_prime_flank Benign
View 11 119215586 119215586 C > T MFRP C1QTNF5 NM_031433.3:c.770G>A
NM_015645.4:c.-1867G>A
NP_113621.1:p.Arg257His
88/6213 0.00732 5 Benign
View 11 128709126 128709126 A > G KCNJ1 KCNJ1 KCNJ1 KCNJ1 KCNJ1 NM_000220.4:c.1070T>C
NM_153765.2:c.1064T>C
NM_153764.2:c.1013T>C
NM_153766.2:c.1013T>C
NM_153767.3:c.1013T>C
NP_000211.1:p.Met357Thr
NP_722449.3:p.Met355Thr
NP_722448.1:p.Met338Thr
NP_722450.1:p.Met338Thr
NP_722451.1:p.Met338Thr
128/8004 0.00812 5 Benign
View 11 128709940 128709940 T > C KCNJ1 KCNJ1 KCNJ1 KCNJ1 KCNJ1 NM_000220.4:c.256A>G
NM_153765.2:c.250A>G
NM_153764.2:c.199A>G
NM_153766.2:c.199A>G
NM_153767.3:c.199A>G
NP_000211.1:p.Thr86Ala
NP_722449.3:p.Thr84Ala
NP_722448.1:p.Thr67Ala
NP_722450.1:p.Thr67Ala
NP_722451.1:p.Thr67Ala
198/8004 0.01337 5 Common ExAC MAF original cat: TYPE_3 - non_synonymous Benign
View 12 2794993 2794993 C > T CACNA1C CACNA1C CACNA1C CACNA1C CACNA1C CACNA1C CACNA1C CACNA1C CACNA1C CACNA1C CACNA1C CACNA1C CACNA1C CACNA1C CACNA1C CACNA1C CACNA1C CACNA1C CACNA1C CACNA1C CACNA1C CACNA1C CACNA1C-AS1 CACNA1C NM_199460.2:c.5914C>T
NM_001167624.1:c.5770C>T
NM_001129840.1:c.5665C>T
NM_001129831.1:c.5749C>T
NM_001129834.1:c.5722C>T
NM_001167625.1:c.5845C>T
NM_001129841.1:c.5665C>T
NM_001129832.1:c.5725C>T
NM_001129837.1:c.5689C>T
NM_001129844.1:c.5656C>T
NM_001129835.1:c.5722C>T
NM_001129838.1:c.5689C>T
NM_001129843.1:c.5665C>T
NM_000719.6:c.5665C>T
NM_001129830.1:c.5770C>T
NM_001129846.1:c.5632C>T
NM_001129836.1:c.5716C>T
NM_001129833.1:c.5722C>T
NM_001129827.1:c.5809C>T
NM_001129839.1:c.5683C>T
NM_001129829.1:c.5788C>T
NM_001167623.1:c.5665C>T
NR_045725.1:n.333+4313G>A
NM_001129842.1:c.5665C>T
NP_955630.2:p.Arg1972Cys
NP_001161096.1:p.Arg1924Cys
NP_001123312.1:p.Arg1889Cys
NP_001123303.1:p.Arg1917Cys
NP_001123306.1:p.Arg1908Cys
NP_001161097.1:p.Arg1949Cys
NP_001123313.1:p.Arg1889Cys
NP_001123304.1:p.Arg1909Cys
NP_001123309.1:p.Arg1897Cys
NP_001123316.1:p.Arg1886Cys
NP_001123307.1:p.Arg1908Cys
NP_001123310.1:p.Arg1897Cys
NP_001123315.1:p.Arg1889Cys
NP_000710.5:p.Arg1889Cys
NP_001123302.1:p.Arg1924Cys
NP_001123318.1:p.Arg1878Cys
NP_001123308.1:p.Arg1906Cys
NP_001123305.1:p.Arg1908Cys
NP_001123299.1:p.Arg1937Cys
NP_001123311.1:p.Arg1895Cys
NP_001123301.1:p.Arg1930Cys
NP_001161095.1:p.Arg1889Cys
NP_001123314.1:p.Arg1889Cys
64/6402 0.00515 5 Benign
View 12 5153405 5153405 G > T KCNA5 NM_002234.3:c.92G>T
NP_002225.2:p.Gly31Val
56/6213 0.00459 5 non_synonymous Benign
View 12 6145649 6145649 A > T VWF ENST00000261405.5:c.2451T>A
ENSP00000261405.5:p.His817Gln
96/6213 0.00845 5 Benign
View 12 7343178 7343187 GAGGTGGAAA > - PEX5 PEX5 PEX5 PEX5 PEX5 NM_001131023.1:c.192+14_192+23del
NM_000319.4:c.147+59_147+68del
NM_001131026.1:c.147+59_147+68del
NM_001131025.1:c.147+59_147+68del
NM_001131024.1:c.147+59_147+68del
45/7965 0.00301 5 five_prime_intronic Benign
View 12 7355269 7355269 T > C PEX5 PEX5 PEX5 PEX5 PEX5 NM_001131023.1:c.860T>C
NM_000319.4:c.815T>C
NM_001131026.1:c.815T>C
NM_001131025.1:c.815T>C
NM_001131024.1:c.704T>C
NP_001124495.1:p.Met287Thr
NP_000310.2:p.Met272Thr
NP_001124498.1:p.Met272Thr
NP_001124497.1:p.Met272Thr
NP_001124496.1:p.Met235Thr
146/8004 0.00937 5 Common ExAC MAF original cat: TYPE_3 - non_synonymous Benign
Displaying 50 through 100 of 706 variants