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Chr Start Stop Change Gene(s) HGVS_C HGVS_P Sample Count CMH MAF ACMG Cat. ACMG Note Curation
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
122/13144 0.00479 5 curation Benign
View 12 15130918 15130918 G > C PDE6H NM_006205.2:c.-29G>C
48/11946 0.00201 5 curation Benign
View 12 21355489 21355489 C > G SLCO1B1 NM_006446.4:c.1200C>G
NP_006437.3:p.Phe400Leu
115/13774 0.00439 5 curation Benign
View 12 42853871 42853871 G > A PRICKLE1 PRICKLE1 PRICKLE1 PRICKLE1 NM_001144882.1:c.2236C>T
NM_001144881.1:c.2236C>T
NM_001144883.1:c.2236C>T
NM_153026.2:c.2236C>T
NP_001138354.1:p.Pro746Ser
NP_001138353.1:p.Pro746Ser
NP_001138355.1:p.Pro746Ser
NP_694571.2:p.Pro746Ser
180/13144 0.00708 5 Benign
View 12 42863266 42863266 C > T PRICKLE1 PRICKLE1 PRICKLE1 PRICKLE1 NM_001144882.1:c.370G>A
NM_001144881.1:c.370G>A
NM_001144883.1:c.370G>A
NM_153026.2:c.370G>A
NP_001138354.1:p.Ala124Thr
NP_001138353.1:p.Ala124Thr
NP_001138355.1:p.Ala124Thr
NP_694571.2:p.Ala124Thr
187/13144 0.00738 5 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
33/13144 0.00126 5 curation Benign
View 12 48369407 48369407 A > C COL2A1 COL2A1 NM_033150.2:c.3391-19T>G
NM_001844.4:c.3598-19T>G
31/11945 0.0013 5 curation Benign
View 12 49420078 49420078 C > T KMT2D NM_003482.3:c.15671G>A
NP_003473.3:p.Arg5224His
4/13144 0.00015 5 curation Benign
View 12 49431796 49431796 G > A KMT2D NM_003482.3:c.9343C>T
NP_003473.3:p.Leu3115Phe
12/13144 0.00049 5 non_synonymous Benign
View 12 49433848 49433848 C > T KMT2D NM_003482.3:c.7705G>A
NP_003473.3:p.Gly2569Ser
25/13144 0.00095 5 curation Benign
View 12 49433883 49433883 G > A KMT2D NM_003482.3:c.7670C>T
NP_003473.3:p.Pro2557Leu
222/13144 0.00844 5 curation Benign
View 12 49434924 49434924 G > A KMT2D NM_003482.3:c.6629C>T
NP_003473.3:p.Pro2210Leu
44/13144 0.00167 5 curation Benign
View 12 49443979 49443979 G > A KMT2D NM_003482.3:c.3392C>T
NP_003473.3:p.Pro1131Leu
21/13144 0.0008 5 Benign
View 12 49444379 49444379 G > T KMT2D NM_003482.3:c.2992C>A
NP_003473.3:p.Pro998Thr
20/13144 0.00076 4 Benign
View 12 49445190 49445216 del > - KMT2D NM_003482.3:c.2250_2276del
NP_003473.3:p.Arg755_Pro-4015del
42/13144 0.00167 5 curation Benign
View 12 49445310 49445310 G > A KMT2D NM_003482.3:c.2156C>T
NP_003473.3:p.Pro719Leu
60/13144 0.00228 5 non_synonymous Benign
View 12 49445392 49445392 G > T KMT2D NM_003482.3:c.2074C>A
NP_003473.3:p.Pro692Thr
122/13144 0.00464 5 curation Benign
View 12 49445526 49445526 G > T KMT2D NM_003482.3:c.1940C>A
NP_003473.3:p.Pro647Gln
12/13144 0.00046 5 curation 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
49/13144 0.00198 5 curation Benign
View 12 52685096 52685096 C > G KRT81 NM_002281.3:c.154G>C
NP_002272.2:p.Gly52Arg
5544/13145 0.24705 5 Benign
View 12 52841174 52841174 C > T KRT6B NM_005555.3:c.1495G>A
NP_005546.2:p.Gly499Ser
737/13146 0.0286 5 Benign
View 12 52965165 52965165 A > G KRT74 NM_175053.3:c.821T>C
NP_778223.2:p.Phe274Ser
28/13144 0.00107 5 curation 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
60/13144 0.00236 5 curation 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
211/13144 0.00803 5 curation 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
93/13144 0.00354 5 curation Benign
View 12 88483274 88483274 A > - CEP290 ENST00000552810.1:c.3574-9del
96/13817 0.00659 5 curation 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
123/12000 0.00517 5 curation Benign
View 12 102079385 102079385 C > T MYBPC1 MYBPC1 MYBPC1 MYBPC1 MYBPC1 MYBPC1 MYBPC1 MYBPC1 MYBPC1 MYBPC1 NM_001254720.1:c.*45C>T
NM_002465.3:c.*45C>T
NM_206820.2:c.*55C>T
NM_001254721.1:c.*45C>T
NM_206821.2:c.*55C>T
NM_001254722.1:c.*45C>T
NM_001254723.1:c.3345C>T
NM_001254719.1:c.*45C>T
NM_001254718.1:c.3497C>T
NM_206819.2:c.*55C>T
NP_001241652.1:p.Leu1115=
NP_001241647.1:p.Ser1166Phe
104/13144 0.00399 5 non_synonymous Benign
View 12 103246700 103246700 C > T PAH ENST00000553106.1:c.735G>A
ENSP00000448059.1:p.Val245=
5855/14969 0.2252 5 Benign
View 12 103352174 103352175 - > GCAGCAGCAGCA ASCL1 NM_004316.3:c.175_186dupCAGCAGCAGCAG
NP_004307.2:p.Gln59_Gln62dup
111/13144 0.00422 5 curation Benign
View 12 106820961 106820961 T > - POLR3B POLR3B NM_001160708.1:c.928-3del
NM_018082.5:c.1102-3del
215/11987 0.01101 5 curation Benign
View 12 110019338 110019338 C > T MVK MVK NM_001114185.1:c.510C>T
NM_000431.2:c.510C>T
NP_001107657.1:p.Asp170=
NP_000422.1:p.Asp170=
4656/14969 0.16872 5 ClinVar Benign_Likely_benign variant Benign
View 12 110029008 110029008 C > T MVK MVK NM_001114185.1:c.769-38C>T
NM_000431.2:c.769-38C>T
4589/14139 0.17614 5 ClinVar Benign variant 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
216/13144 0.00822 5 curation 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
131/13144 0.0051 5 curation 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
275/12012 0.01207 5 curation Benign
View 12 111902514 111902514 G > A ATXN2 NM_002973.3:c.3322C>T
NP_002964.3:p.Pro1108Ser
36/13144 0.00137 5 curation 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
144/13144 0.00555 5 curation Benign
View 12 116445451 116445452 - > A MED13L NM_015335.4:c.2013-10dupT
190/12003 0.00833 5 curation Benign
View 12 116445451 116445451 A > - MED13L NM_015335.4:c.2013-10del
282/11992 0.01205 5 curation Benign
View 12 122296608 122296608 A > C HPD HPD NM_001171993.1:c.-103T>G
ENST00000289004.4:c.15T>G
ENSP00000289004.4:p.Ser5Arg
294/13844 0.01105 5 curation 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
1183/12235 0.04994 5 curation Benign
View 12 124221796 124221796 G > A ATP6V0A2 NM_012463.3:c.1016G>A
NP_036595.2:p.Arg339His
317/14969 0.01066 5 curation Benign
View 12 124228414 124228414 A > G ATP6V0A2 NM_012463.3:c.1121A>G
NP_036595.2:p.Lys374Arg
293/14969 0.00985 5 curation Benign
View 12 133214596 133214596 G > A POLE NM_006231.2:c.5678+4C>T
132/11995 0.00567 5 curation Benign
View 13 20763264 20763264 C > T GJB2 NM_004004.5:c.457G>A
NP_003995.2:p.Val153Ile
108/14969 0.00364 5 curation Benign
View 13 20763341 20763341 C > T GJB2 NM_004004.5:c.380G>A
NP_003995.2:p.Arg127His
107/14969 0.00374 5 curation Benign
View 13 20763710 20763710 C > T GJB2 NM_004004.5:c.11G>A
NP_003995.2:p.Gly4Asp
23/14969 0.0008 5 Benign
View 13 20763735 20763735 G > A GJB2 NM_004004.5:c.-15C>T
119/13783 0.00457 5 curation Benign
View 13 20763754 20763754 G > A GJB2 NM_004004.5:c.-22-12C>T
591/13833 0.02328 5 curation Benign
Displaying 200 through 250 of 1,342 variants