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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 119213319 119213319 C > A MFRP C1QTNF5 NM_031433.3:c.1374G>T
NM_015645.4:c.-1263G>T
NP_113621.1:p.Leu458Phe
150/9594 0.00787 5 non_synonymous 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
159/9594 0.0086 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
190/11422 0.0084 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
313/11422 0.01471 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
114/9783 0.00603 5 Benign
View 12 5153405 5153405 G > T KCNA5 NM_002234.3:c.92G>T
NP_002225.2:p.Gly31Val
97/9594 0.00511 5 non_synonymous Benign
View 12 6145649 6145649 A > T VWF ENST00000261405.5:c.2451T>A
ENSP00000261405.5:p.His817Gln
178/9594 0.01016 5 Benign
View 12 6443001 6443001 G > A TNFRSF1A NM_001065.3:c.224C>T
NP_001056.1:p.Pro75Leu
131/9594 0.00724 5 Benign
View 12 6715630 6715630 G > C CHD4 NM_001273.2:c.-78-13C>G
182/9555 0.00952 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
77/11383 0.00347 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
231/11422 0.01037 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
33/9555 0.00173 5 non_synonymous Benign
View 12 9085325 9085330 GCAGCA > - PHC1 NM_004426.2:c.1284_1289del
NP_004417.2:p.Gln438_Gln439del
99/9595 0.00532 5 in_frame_indel Benign
View 12 10277906 10277906 G > A CLEC7A CLEC7A CLEC7A CLEC7A CLEC7A NM_022570.4:c.344C>T
NM_197950.2:c.245C>T
NM_197947.2:c.482C>T
NM_197949.2:c.344C>T
NM_197948.2:c.482C>T
NP_072092.2:p.Ser115Leu
NP_922941.1:p.Ser82Leu
NP_922938.1:p.Ser161Leu
NP_922940.1:p.Ser115Leu
NP_922939.1:p.Ser161Leu
85/9594 0.00459 5 non_synonymous Benign
View 12 15130918 15130918 G > C PDE6H NM_006205.2:c.-29G>C
35/9555 0.00183 5 Benign
View 12 21355489 21355489 C > G SLCO1B1 NM_006446.4:c.1200C>G
NP_006437.3:p.Phe400Leu
88/10129 0.00469 5 non_synonymous Benign
View 12 48367327 48367327 C > T COL2A1 COL2A1 NM_033150.2:c.4120G>A
NM_001844.4:c.4327G>A
NP_149162.2:p.Gly1374Ser
NP_001835.3:p.Gly1443Ser
27/9595 0.00141 5 Benign
View 12 48369407 48369407 A > C COL2A1 COL2A1 NM_033150.2:c.3391-19T>G
NM_001844.4:c.3598-19T>G
25/9556 0.00131 5 three_prime_flank Benign
View 12 49420078 49420078 C > T KMT2D NM_003482.3:c.15671G>A
NP_003473.3:p.Arg5224His
3/9594 0.00016 5 non_synonymous Benign
View 12 49433848 49433848 C > T KMT2D NM_003482.3:c.7705G>A
NP_003473.3:p.Gly2569Ser
20/9594 0.00104 5 non_synonymous Benign
View 12 49433883 49433883 G > A KMT2D NM_003482.3:c.7670C>T
NP_003473.3:p.Pro2557Leu
163/9594 0.00849 5 non_synonymous Benign
View 12 49434924 49434924 G > A KMT2D NM_003482.3:c.6629C>T
NP_003473.3:p.Pro2210Leu
36/9594 0.00188 5 non_synonymous Benign
View 12 49445190 49445216 del > - KMT2D NM_003482.3:c.2250_2276del
NP_003473.3:p.Arg755_Pro-4015del
30/9594 0.00167 5 in_frame_indel Benign
View 12 49445392 49445392 G > T KMT2D NM_003482.3:c.2074C>A
NP_003473.3:p.Pro692Thr
85/9594 0.00443 5 non_synonymous Benign
View 12 49445526 49445526 G > T KMT2D NM_003482.3:c.1940C>A
NP_003473.3:p.Pro647Gln
10/9594 0.00052 5 Benign
View 12 52139786 52139786 A > T SCN8A SCN8A NM_014191.3:c.2098A>T
NM_001177984.2:c.2098A>T
NP_055006.1:p.Ile700Leu
NP_001171455.1:p.Ile700Leu
31/9594 0.00172 5 non_synonymous Benign
View 12 52965165 52965165 A > G KRT74 NM_175053.3:c.821T>C
NP_778223.2:p.Phe274Ser
18/9594 0.00094 5 Benign
View 12 56101421 56101421 A > C ITGA7 ITGA7 ITGA7 NM_001144996.1:c.46T>G
NM_001144997.1:c.85+4426T>G
NM_002206.2:c.46T>G
NP_001138468.1:p.Cys16Gly
NP_002197.2:p.Cys16Gly
46/9594 0.0025 5 non_synonymous Benign
View 12 58020582 58020582 G > A B4GALNT1 B4GALNT1 NM_001478.4:c.1547C>T
NM_001276468.1:c.1382C>T
NP_001469.1:p.Ala516Val
NP_001263397.1:p.Ala461Val
158/9594 0.00823 5 non_synonymous Benign
View 12 66856782 66856782 C > T GRIP1 GRIP1 NM_021150.3:c.964G>A
NM_001178074.1:c.964G>A
NP_066973.2:p.Ala322Thr
NP_001171545.1:p.Ala322Thr
72/9594 0.00375 5 non_synonymous Benign
View 12 88483274 88483274 A > - CEP290 ENST00000552810.1:c.3574-9del
62/11422 0.00512 5 polypyrimidine_tract Benign
View 12 102025925 102025925 G > A MYBPC1 MYBPC1 MYBPC1 MYBPC1 MYBPC1 MYBPC1 MYBPC1 MYBPC1 MYBPC1 MYBPC1 NM_001254720.1:c.445+9G>A
NM_002465.3:c.556+9G>A
NM_206820.2:c.481+9G>A
NM_001254721.1:c.481+9G>A
NM_206821.2:c.481+9G>A
NM_001254722.1:c.403+9G>A
NM_001254723.1:c.442+9G>A
NM_001254719.1:c.481+9G>A
NM_001254718.1:c.481+9G>A
NM_206819.2:c.556+9G>A
82/9594 0.00433 5 five_prime_intronic Benign
View 12 103352174 103352175 - > GCAGCAGCAGCA ASCL1 NM_004316.3:c.175_186dupCAGCAGCAGCAG
NP_004307.2:p.Gln59_Gln62dup
79/9594 0.00412 5 in_frame_indel Benign
View 12 110230597 110230597 C > T TRPV4 TRPV4 TRPV4 TRPV4 TRPV4 NM_021625.4:c.1684G>A
NM_001177428.1:c.1543G>A
NM_147204.2:c.1504G>A
NM_001177431.1:c.1582G>A
NM_001177433.1:c.1363G>A
NP_067638.3:p.Val562Ile
NP_001170899.1:p.Val515Ile
NP_671737.1:p.Val502Ile
NP_001170902.1:p.Val528Ile
NP_001170904.1:p.Val455Ile
144/9594 0.0075 5 Benign
View 12 110240859 110240859 C > A TRPV4 TRPV4 TRPV4 TRPV4 TRPV4 NM_021625.4:c.649G>T
NM_001177428.1:c.649G>T
NM_147204.2:c.649G>T
NM_001177431.1:c.547G>T
NM_001177433.1:c.649G>T
NP_067638.3:p.Ala217Ser
NP_001170899.1:p.Ala217Ser
NP_671737.1:p.Ala217Ser
NP_001170902.1:p.Ala183Ser
NP_001170904.1:p.Ala217Ser
98/9594 0.00526 5 Benign
View 12 111066563 111066565 AAA > - TCTN1 TCTN1 TCTN1 TCTN1 TCTN1 NM_001173976.1:c.293-6_293-4del
NM_001173975.1:c.305-6_305-4del
NM_024549.5:c.473-6_473-4del
NM_001082538.2:c.473-6_473-4del
NM_001082537.2:c.473-6_473-4del
192/9594 0.01053 5 Common ExAC MAF original cat: TYPE_3 - polypyrimidine_tract Benign
View 12 111902514 111902514 G > A ATXN2 NM_002973.3:c.3322C>T
NP_002964.3:p.Pro1108Ser
29/9594 0.00151 5 non_synonymous Benign
View 12 114837349 114837349 C > A TBX5 TBX5 TBX5 NM_181486.2:c.331G>T
NM_000192.3:c.331G>T
NM_080717.2:c.181G>T
NP_852259.1:p.Asp111Tyr
NP_000183.2:p.Asp111Tyr
NP_542448.1:p.Asp61Tyr
103/9594 0.00547 5 Benign
View 12 116445451 116445451 A > - MED13L NM_015335.4:c.2013-10del
158/9594 0.00839 5 polypyrimidine_tract Benign
View 12 116445451 116445452 - > A MED13L NM_015335.4:c.2013-10dupT
97/9594 0.00521 5 polypyrimidine_tract Benign
View 12 122296608 122296608 A > C HPD HPD NM_001171993.1:c.-103T>G
ENST00000289004.4:c.15T>G
ENSP00000289004.4:p.Ser5Arg
222/10294 0.01127 5 Common ExAC MAF original cat: TYPE_3 - non_synonymous Benign
View 12 122762764 122762765 - > AA CLIP1 CLIP1 CLIP1 NM_002956.2:c.3884-15_3884-14dupTT
NM_001247997.1:c.3917-15_3917-14dupTT
NM_198240.1:c.3779-15_3779-14dupTT
488/9555 0.0258 5 polypyrimidine_tract Benign
View 12 124221796 124221796 G > A ATP6V0A2 NM_012463.3:c.1016G>A
NP_036595.2:p.Arg339His
233/11422 0.01029 5 Common ExAC MAF original cat: TYPE_3 - non_synonymous Benign
View 12 124228414 124228414 A > G ATP6V0A2 NM_012463.3:c.1121A>G
NP_036595.2:p.Lys374Arg
215/11422 0.0095 5 Common ExAC MAF original cat: TYPE_3 - non_synonymous Benign
View 12 133214596 133214596 G > A POLE NM_006231.2:c.5678+4C>T
99/9594 0.00537 5 five_prime_flank Benign
View 13 20763341 20763341 C > T GJB2 NM_004004.5:c.380G>A
NP_003995.2:p.Arg127His
88/11422 0.00407 5 Benign
View 13 20763735 20763735 G > A GJB2 NM_004004.5:c.-15C>T
93/11383 0.0043 5 Benign
View 13 20763754 20763754 G > A GJB2 NM_004004.5:c.-22-12C>T
455/11384 0.02192 5 Benign
View 13 23909142 23909142 T > C SACS SACS NM_001278055.1:c.8432A>G
NM_014363.5:c.8873A>G
NP_001264984.1:p.Lys2811Arg
NP_055178.3:p.Lys2958Arg
158/11422 0.007 5 Common ExAC MAF original cat: TYPE_3 - non_synonymous Benign
View 13 23911234 23911234 G > T SACS SACS NM_001278055.1:c.6340C>A
NM_014363.5:c.6781C>A
NP_001264984.1:p.Leu2114Ile
NP_055178.3:p.Leu2261Ile
92/11422 0.00407 5 Benign
Displaying 150 through 200 of 1,030 variants