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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 47368170 47368170 G > A MYBPC3 NM_000256.3:c.926+8C>T
18/11983 0.00075 5 curation 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
198/14969 0.00661 5 curation Benign
View 11 57561543 57561543 A > G CTNND1 CTNND1 CTNND1 CTNND1 CTNND1 CTNND1 CTNND1 CTNND1 CTNND1 CTNND1 CTNND1 CTNND1 CTNND1 CTNND1 CTNND1 CTNND1 CTNND1 CTNND1 CTNND1 CTNND1 CTNND1 TMX2-CTNND1 ENST00000358694.6:c.257A>G
ENST00000361332.4:c.257A>G
ENST00000530094.1:c.-47A>G
ENST00000528232.1:c.-47A>G
ENST00000532463.1:c.-47A>G
ENST00000399050.4:c.257A>G
ENST00000426142.2:c.-47A>G
ENST00000532787.1:c.-47A>G
ENST00000415361.2:c.-47A>G
ENST00000526357.1:c.95A>G
ENST00000529873.1:c.95A>G
ENST00000428599.2:c.257A>G
ENST00000532245.1:c.-36-1506A>G
ENST00000532649.1:c.95A>G
ENST00000529986.1:c.-47A>G
ENST00000528621.1:c.95A>G
ENST00000530748.1:c.95A>G
ENST00000532844.1:c.95A>G
ENST00000361391.6:c.257A>G
ENST00000361796.4:c.257A>G
ENST00000529526.1:c.95A>G
NR_037646.1:n.816A>G
ENSP00000351527.6:p.Asn86Ser
ENSP00000354823.4:p.Asn86Ser
ENSP00000382004.4:p.Asn86Ser
ENSP00000433334.1:p.Asn32Ser
ENSP00000435494.1:p.Asn32Ser
ENSP00000413586.2:p.Asn86Ser
ENSP00000435379.1:p.Asn32Ser
ENSP00000432243.1:p.Asn32Ser
ENSP00000436744.1:p.Asn32Ser
ENSP00000433276.1:p.Asn32Ser
ENSP00000354785.6:p.Asn86Ser
ENSP00000354907.4:p.Asn86Ser
ENSP00000436323.1:p.Asn32Ser
19/13144 0.00072 5 curation Benign
View 11 58892376 58892377 - > A FAM111B FAM111B FAM111B NM_198947.3:c.816dupA
NM_001142704.1:c.726dupA
NM_001142703.1:c.726dupA
NP_945185.1:p.Ala273SerfsTer9
NP_001136176.1:p.Ala243SerfsTer9
NP_001136175.1:p.Ala243SerfsTer9
13/13144 0.00049 5 frameshift Benign
View 11 59610581 59610581 A > G GIF NM_005142.2:c.290T>C
NP_005133.2:p.Met97Thr
191/13144 0.0073 5 curation 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
110/13144 0.00426 5 curation Benign
View 11 62393382 62393382 G > A GANAB GANAB GANAB GANAB GANAB NM_198334.2:c.2740C>T
NM_198335.3:c.2806C>T
NM_001278193.1:c.2398C>T
NM_001278194.1:c.2449C>T
NM_001278192.1:c.2464C>T
NP_938148.1:p.Arg914Cys
NP_938149.2:p.Arg936Cys
NP_001265122.1:p.Arg800Cys
NP_001265123.1:p.Arg817Cys
NP_001265121.1:p.Arg822Cys
4/13105 0.00015 5 non_synonymous Benign
View 11 64496517 64496517 G > T RASGRP2 RASGRP2 RASGRP2 NM_001098670.1:c.1592-3C>A
NM_001098671.1:c.1592-3C>A
NM_153819.1:c.1592-3C>A
155/12009 0.00662 5 Benign
View 11 66287196 66287196 G > A BBS1 NM_024649.4:c.700G>A
NP_078925.3:p.Glu234Lys
253/13144 0.01004 5 curation Benign
View 11 67807143 67807144 - > C TCIRG1 ENST00000265686.3:c.-5+560dupC
1829/5628 0.32445 5 curation Benign
View 11 67813930 67813930 A > G TCIRG1 TCIRG1 ENST00000265686.3:c.1166-970A>G
ENST00000532635.1:c.518-970A>G
1827/13774 0.11565 5 curation 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=
14661/14969 0.97171 5 curation 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
177/14969 0.00611 5 curation Benign
View 11 67926515 67926515 T > C KMT5B ENST00000304363.4:c.1298A>G
ENSP00000305899.4:p.Asn433Ser
25/13144 0.00095 5 curation Benign
View 11 67941365 67941365 G > T KMT5B KMT5B ENST00000401547.2:c.559C>A
ENST00000304363.4:c.559C>A
ENSP00000385965.2:p.Arg187=
ENSP00000305899.4:p.Arg187=
112/13144 0.00441 5 Benign
View 11 70821059 70821059 G > A SHANK2 NM_012309.3:c.520C>T
NP_036441.2:p.Arg174Cys
192/13144 0.00753 5 curation Benign
View 11 70858151 70858151 G > A SHANK2 NM_012309.3:c.207+15C>T
61/11953 0.00259 5 curation Benign
View 11 73753271 73753272 - > A C2CD3 NM_015531.4:c.5496-6dupT
44/11991 0.00183 5 curation 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
164/13786 0.00606 5 curation Benign
View 11 76910708 76910708 C > T MYO7A MYO7A NM_000260.3:c.4697C>T
NM_001127180.1:c.4583C>T
NP_000251.3:p.Thr1566Met
NP_001120652.1:p.Thr1528Met
148/14969 0.00498 5 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
161/14969 0.00558 5 curation Benign
View 11 108114727 108114727 G > C ATM ENST00000278616.4:c.544G>C
ENSP00000278616.4:p.Val182Leu
92/14969 0.00311 5 curation Benign
View 11 108121413 108121413 T > - ATM ENST00000278616.4:c.1236-3del
489/13833 0.01768 5 curation Benign
View 11 108121733 108121733 G > A ATM ENST00000278616.4:c.1541G>A
ENSP00000278616.4:p.Gly514Asp
173/14969 0.00585 5 curation Benign
View 11 108122592 108122592 C > G ATM ENST00000278616.4:c.1636C>G
ENSP00000278616.4:p.Leu546Val
108/14969 0.00367 5 curation Benign
View 11 108124761 108124761 T > C ATM ENST00000278616.4:c.2119T>C
ENSP00000278616.4:p.Ser707Pro
274/14969 0.00922 5 non_synonymous Benign
View 11 108138045 108138045 C > T ATM ENST00000278616.4:c.2614C>T
ENSP00000278616.4:p.Pro872Ser
93/14969 0.00314 5 curation Benign
View 11 108141958 108141959 - > T ATM ENST00000278616.4:c.2922-8dupT
87/13777 0.00319 5 curation Benign
View 11 108151707 108151708 - > T ATM ENST00000278616.4:c.3403-15dupT
25/13771 0.00094 5 curation Benign
View 11 108159732 108159732 C > T ATM ENST00000278616.4:c.4138C>T
ENSP00000278616.4:p.His1380Tyr
229/14969 0.00772 5 curation Benign
View 11 111897031 111897032 - > T DLAT NM_001931.4:c.381+22dupT
26/11992 0.00108 5 curation 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
254/13144 0.01004 5 curation Benign
View 11 116728913 116728913 G > A SIK3 NM_025164.3:c.2950C>T
NP_079440.2:p.Arg984Cys
247/13148 0.00955 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
20/13144 0.0008 5 curation 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
145/13144 0.00552 5 curation 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
36/13144 0.00137 5 curation Benign
View 11 119145667 119145667 A > G CBL NM_005188.3:c.869+4A>G
149/11996 0.00634 5 curation Benign
View 11 119213319 119213319 C > A MFRP C1QTNF5 NM_031433.3:c.1374G>T
NM_015645.4:c.-1263G>T
NP_113621.1:p.Leu458Phe
225/13144 0.00864 5 curation 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
220/13144 0.00871 5 curation 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
257/14969 0.00865 5 curation 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
406/14969 0.01453 5 curation 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
159/13333 0.00615 5 curation Benign
View 12 5153405 5153405 G > T KCNA5 NM_002234.3:c.92G>T
NP_002225.2:p.Gly31Val
129/13144 0.00495 5 curation Benign
View 12 6145649 6145649 A > T VWF ENST00000261405.5:c.2451T>A
ENSP00000261405.5:p.His817Gln
243/13144 0.00993 5 curation Benign
View 12 6443001 6443001 G > A TNFRSF1A NM_001065.3:c.224C>T
NP_001056.1:p.Pro75Leu
185/13144 0.00749 5 curation Benign
View 12 6715630 6715630 G > C CHD4 NM_001273.2:c.-78-13C>G
282/11970 0.01182 5 curation 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
114/13784 0.00421 5 curation 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
320/14969 0.01099 5 curation Benign
View 12 9020600 9020600 G > A A2ML1 A2ML1 ENST00000299698.7:c.3880G>A
NR_046256.1:n.2575G>A
ENSP00000299698.7:p.Val1294Ile
44/13105 0.00168 5 curation Benign
View 12 9085325 9085330 GCAGCA > - PHC1 NM_004426.2:c.1284_1289del
NP_004417.2:p.Gln438_Gln439del
138/13145 0.0054 5 curation Benign
Displaying 150 through 200 of 1,342 variants