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Chr Start Stop Change Gene(s) HGVS_C HGVS_P Sample Count CMH MAF ACMG Cat. ACMG Note Curation
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
83/10521 0.00409 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
79/10521 0.00394 5 Benign
View 11 6636668 6636668 C > T TPP1 NM_000391.3:c.1266+5G>A
123/10521 0.00604 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
68/10521 0.00333 5 Benign
View 11 6648332 6648332 T > A DCHS1 ENST00000299441.3:c.5938A>T
ENSP00000299441.3:p.Thr1980Ser
72/8685 0.0042 5 non_synonymous Benign
View 11 7060977 7060977 A > T NLRP14 NM_176822.3:c.322A>T
NP_789792.1:p.Lys108Ter
89/8685 0.00524 1 Benign
View 11 9871781 9871784 GATT > - SBF2 NM_030962.3:c.2611-19_2611-16del
117/8647 0.00694 5 three_prime_flank Benign
View 11 10521644 10521644 T > G AMPD3 AMPD3 AMPD3 AMPD3 AMPD3 NM_001025389.1:c.1569T>G
NM_001025390.1:c.1590T>G
NM_001172430.1:c.1569T>G
NM_001172431.1:c.1092T>G
NM_000480.2:c.1596T>G
NP_001020560.1:p.Phe523Leu
NP_001020561.1:p.Phe530Leu
NP_001165901.1:p.Phe523Leu
NP_001165902.1:p.Phe364Leu
NP_000471.1:p.Phe532Leu
13/8685 0.00075 5 non_synonymous Benign
View 11 17663382 17663382 C > A OTOG NM_001277269.1:c.8227-12C>A
72/8637 0.00428 5 polypyrimidine_tract Benign
View 11 26463582 26463582 C > T ANO3 NM_031418.2:c.164C>T
NP_113606.2:p.Ser55Phe
116/8685 0.00679 5 non_synonymous 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
58/10521 0.00276 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
152/10521 0.00746 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
64/8686 0.0038 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
145/10521 0.00689 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
79/8685 0.00466 5 Benign
View 11 66287196 66287196 G > A BBS1 NM_024649.4:c.700G>A
NP_078925.3:p.Glu234Lys
163/8685 0.00967 5 Benign
View 11 67807143 67807144 - > C TCIRG1 ENST00000265686.3:c.-5+560dupC
799/4665 0.17106 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
827/10485 0.07039 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=
10224/10521 0.96402 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
136/10521 0.0067 5 Common ExAC MAF original cat: TYPE_3 - in_frame_indel Benign
View 11 67926515 67926515 T > C KMT5B ENST00000304363.4:c.1298A>G
ENSP00000305899.4:p.Asn433Ser
19/8685 0.00109 5 non_synonymous Benign
View 11 70821059 70821059 G > A SHANK2 NM_012309.3:c.520C>T
NP_036441.2:p.Arg174Cys
113/8685 0.00668 5 Benign
View 11 70858151 70858151 G > A SHANK2 NM_012309.3:c.207+15C>T
32/8646 0.00185 5 five_prime_intronic Benign
View 11 73753271 73753272 - > A C2CD3 NM_015531.4:c.5496-6dupT
16/8685 0.00092 5 polypyrimidine_tract 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
112/10482 0.00544 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
108/10521 0.00537 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
51/10521 0.00247 5 Benign
View 11 108121413 108121413 T > - ATM ENST00000278616.4:c.1236-3del
177/10483 0.00844 5 polypyrimidine_tract Benign
View 11 108121733 108121733 G > A ATM ENST00000278616.4:c.1541G>A
ENSP00000278616.4:p.Gly514Asp
115/10521 0.00551 5 Benign
View 11 108122592 108122592 C > G ATM ENST00000278616.4:c.1636C>G
ENSP00000278616.4:p.Leu546Val
71/10521 0.00347 5 Benign
View 11 108138045 108138045 C > T ATM ENST00000278616.4:c.2614C>T
ENSP00000278616.4:p.Pro872Ser
62/10521 0.00299 5 Benign
View 11 108151707 108151708 - > T ATM ENST00000278616.4:c.3403-15dupT
26/10482 0.00129 5 polypyrimidine_tract Benign
View 11 108159732 108159732 C > T ATM ENST00000278616.4:c.4138C>T
ENSP00000278616.4:p.His1380Tyr
165/10521 0.00789 5 Benign
View 11 111897031 111897032 - > T DLAT NM_001931.4:c.381+22dupT
6/8685 0.00035 5 five_prime_intronic 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
155/8685 0.0091 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
11/8685 0.00069 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
94/8685 0.00541 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
24/8685 0.00138 5 non_synonymous Benign
View 11 119145667 119145667 A > G CBL NM_005188.3:c.869+4A>G
97/8685 0.0057 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
151/8685 0.00904 5 Benign
View 11 128709126 128709126 A > G KCNJ1 KCNJ1 KCNJ1 KCNJ1 KCNJ1 NM_000220.4:c.1070T>C
NM_153767.3:c.1013T>C
NM_153766.2:c.1013T>C
NM_153764.2:c.1013T>C
NM_153765.2:c.1064T>C
NP_000211.1:p.Met357Thr
NP_722451.1:p.Met338Thr
NP_722450.1:p.Met338Thr
NP_722448.1:p.Met338Thr
NP_722449.3:p.Met355Thr
172/10521 0.00827 5 Benign
View 11 128709940 128709940 T > C KCNJ1 KCNJ1 KCNJ1 KCNJ1 KCNJ1 NM_000220.4:c.256A>G
NM_153767.3:c.199A>G
NM_153766.2:c.199A>G
NM_153764.2:c.199A>G
NM_153765.2:c.250A>G
NP_000211.1:p.Thr86Ala
NP_722451.1:p.Thr67Ala
NP_722450.1:p.Thr67Ala
NP_722448.1:p.Thr67Ala
NP_722449.3:p.Thr84Ala
271/10521 0.01388 5 Common ExAC MAF original cat: TYPE_3 - non_synonymous Benign
View 12 2794993 2794993 C > T CACNA1C CACNA1C CACNA1C-AS1 CACNA1C CACNA1C CACNA1C CACNA1C CACNA1C CACNA1C CACNA1C CACNA1C CACNA1C CACNA1C CACNA1C CACNA1C CACNA1C CACNA1C CACNA1C CACNA1C CACNA1C CACNA1C CACNA1C CACNA1C CACNA1C NM_199460.2:c.5914C>T
NM_000719.6:c.5665C>T
NR_045725.1:n.333+4313G>A
NM_001167623.1:c.5665C>T
NM_001167625.1:c.5845C>T
NM_001167624.1:c.5770C>T
NM_001129829.1:c.5788C>T
NM_001129839.1:c.5683C>T
NM_001129838.1:c.5689C>T
NM_001129827.1:c.5809C>T
NM_001129837.1:c.5689C>T
NM_001129832.1:c.5725C>T
NM_001129843.1:c.5665C>T
NM_001129831.1:c.5749C>T
NM_001129842.1:c.5665C>T
NM_001129830.1:c.5770C>T
NM_001129841.1:c.5665C>T
NM_001129840.1:c.5665C>T
NM_001129836.1:c.5716C>T
NM_001129835.1:c.5722C>T
NM_001129846.1:c.5632C>T
NM_001129834.1:c.5722C>T
NM_001129833.1:c.5722C>T
NM_001129844.1:c.5656C>T
NP_955630.2:p.Arg1972Cys
NP_000710.5:p.Arg1889Cys
NP_001161095.1:p.Arg1889Cys
NP_001161097.1:p.Arg1949Cys
NP_001161096.1:p.Arg1924Cys
NP_001123301.1:p.Arg1930Cys
NP_001123311.1:p.Arg1895Cys
NP_001123310.1:p.Arg1897Cys
NP_001123299.1:p.Arg1937Cys
NP_001123309.1:p.Arg1897Cys
NP_001123304.1:p.Arg1909Cys
NP_001123315.1:p.Arg1889Cys
NP_001123303.1:p.Arg1917Cys
NP_001123314.1:p.Arg1889Cys
NP_001123302.1:p.Arg1924Cys
NP_001123313.1:p.Arg1889Cys
NP_001123312.1:p.Arg1889Cys
NP_001123308.1:p.Arg1906Cys
NP_001123307.1:p.Arg1908Cys
NP_001123318.1:p.Arg1878Cys
NP_001123306.1:p.Arg1908Cys
NP_001123305.1:p.Arg1908Cys
NP_001123316.1:p.Arg1886Cys
95/8874 0.00552 5 Benign
View 12 5153405 5153405 G > T KCNA5 NM_002234.3:c.92G>T
NP_002225.2:p.Gly31Val
84/8685 0.00489 5 non_synonymous Benign
View 12 6145649 6145649 A > T VWF ENST00000261405.5:c.2451T>A
ENSP00000261405.5:p.His817Gln
162/8685 0.01031 5 Benign
View 12 6715630 6715630 G > C CHD4 NM_001273.2:c.-78-13C>G
151/8646 0.00873 5 polypyrimidine_tract Benign
View 12 7343178 7343187 GAGGTGGAAA > - PEX5 PEX5 PEX5 PEX5 PEX5 NM_001131026.1:c.147+59_147+68del
NM_001131025.1:c.147+59_147+68del
NM_000319.4:c.147+59_147+68del
NM_001131024.1:c.147+59_147+68del
NM_001131023.1:c.192+14_192+23del
72/10482 0.00353 5 five_prime_intronic Benign
View 12 7355269 7355269 T > C PEX5 PEX5 PEX5 PEX5 PEX5 NM_001131026.1:c.815T>C
NM_001131025.1:c.815T>C
NM_000319.4:c.815T>C
NM_001131024.1:c.704T>C
NM_001131023.1:c.860T>C
NP_001124498.1:p.Met272Thr
NP_001124497.1:p.Met272Thr
NP_000310.2:p.Met272Thr
NP_001124496.1:p.Met235Thr
NP_001124495.1:p.Met287Thr
213/10521 0.01041 5 Common ExAC MAF original cat: TYPE_3 - non_synonymous Benign
View 12 9020600 9020600 G > A A2ML1 A2ML1 ENST00000299698.7:c.3880G>A
NR_046256.1:n.2575G>A
ENSP00000299698.7:p.Val1294Ile
26/8646 0.0015 5 non_synonymous Benign
View 12 9085325 9085330 GCAGCA > - PHC1 NM_004426.2:c.1284_1289del
NP_004417.2:p.Gln438_Gln439del
94/8686 0.00553 5 in_frame_indel Benign
Displaying 100 through 150 of 978 variants