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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 9020600 9020600 G > A A2ML1 A2ML1 ENST00000299698.7:c.3880G>A
NR_046256.1:n.2575G>A
ENSP00000299698.7:p.Val1294Ile
20/6174 0.00162 5 non_synonymous Benign
View 12 9085325 9085330 GCAGCA > - PHC1 NM_004426.2:c.1284_1289del
NP_004417.2:p.Gln438_Gln439del
71/6214 0.00587 5 in_frame_indel Benign
View 12 10277906 10277906 G > A CLEC7A CLEC7A CLEC7A CLEC7A CLEC7A NM_022570.4:c.344C>T
NM_197948.2:c.482C>T
NM_197950.2:c.245C>T
NM_197949.2:c.344C>T
NM_197947.2:c.482C>T
NP_072092.2:p.Ser115Leu
NP_922939.1:p.Ser161Leu
NP_922941.1:p.Ser82Leu
NP_922940.1:p.Ser115Leu
NP_922938.1:p.Ser161Leu
47/6213 0.00402 5 non_synonymous Benign
View 12 21355489 21355489 C > G SLCO1B1 NM_006446.4:c.1200C>G
NP_006437.3:p.Phe400Leu
52/6625 0.0043 5 non_synonymous Benign
View 12 49420078 49420078 C > T KMT2D NM_003482.3:c.15671G>A
NP_003473.3:p.Arg5224His
2/6213 0.00016 5 non_synonymous Benign
View 12 49433883 49433883 G > A KMT2D NM_003482.3:c.7670C>T
NP_003473.3:p.Pro2557Leu
117/6213 0.00942 5 non_synonymous Benign
View 12 49434924 49434924 G > A KMT2D NM_003482.3:c.6629C>T
NP_003473.3:p.Pro2210Leu
17/6213 0.00137 5 non_synonymous Benign
View 12 49445190 49445216 del > - KMT2D NM_003482.3:c.2250_2276del
NP_003473.3:p.Arg755_Pro-4015del
14/6213 0.00121 5 in_frame_indel Benign
View 12 49445392 49445392 G > T KMT2D NM_003482.3:c.2074C>A
NP_003473.3:p.Pro692Thr
49/6213 0.00394 5 non_synonymous Benign
View 12 49445526 49445526 G > T KMT2D NM_003482.3:c.1940C>A
NP_003473.3:p.Pro647Gln
6/6213 0.00048 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
16/6213 0.00137 5 non_synonymous Benign
View 12 52965165 52965165 A > G KRT74 NM_175053.3:c.821T>C
NP_778223.2:p.Phe274Ser
14/6213 0.00113 5 Benign
View 12 56101421 56101421 A > C ITGA7 ITGA7 ITGA7 NM_001144996.1:c.46T>G
NM_002206.2:c.46T>G
NM_001144997.1:c.85+4426T>G
NP_001138468.1:p.Cys16Gly
NP_002197.2:p.Cys16Gly
24/6213 0.00201 5 non_synonymous Benign
View 12 58020582 58020582 G > A B4GALNT1 B4GALNT1 NM_001276468.1:c.1382C>T
NM_001478.4:c.1547C>T
NP_001263397.1:p.Ala461Val
NP_001469.1:p.Ala516Val
101/6213 0.00813 5 non_synonymous Benign
View 12 66856782 66856782 C > T GRIP1 GRIP1 NM_001178074.1:c.964G>A
NM_021150.3:c.964G>A
NP_001171545.1:p.Ala322Thr
NP_066973.2:p.Ala322Thr
34/6213 0.00274 5 non_synonymous Benign
View 12 88483274 88483274 A > - CEP290 ENST00000552810.1:c.3574-9del
28/8004 0.00312 5 polypyrimidine_tract Benign
View 12 102025925 102025925 G > A MYBPC1 MYBPC1 MYBPC1 MYBPC1 MYBPC1 MYBPC1 MYBPC1 MYBPC1 MYBPC1 MYBPC1 NM_206821.2:c.481+9G>A
NM_206819.2:c.556+9G>A
NM_001254722.1:c.403+9G>A
NM_206820.2:c.481+9G>A
NM_001254718.1:c.481+9G>A
NM_001254720.1:c.445+9G>A
NM_001254723.1:c.442+9G>A
NM_002465.3:c.556+9G>A
NM_001254719.1:c.481+9G>A
NM_001254721.1:c.481+9G>A
39/6213 0.00322 5 five_prime_intronic Benign
View 12 103352174 103352175 - > GCAGCAGCAGCA ASCL1 NM_004316.3:c.175_186dupCAGCAGCAGCAG
NP_004307.2:p.Gln59_Gln62dup
38/6213 0.00306 5 in_frame_indel Benign
View 12 110230597 110230597 C > T TRPV4 TRPV4 TRPV4 TRPV4 TRPV4 NM_021625.4:c.1684G>A
NM_001177433.1:c.1363G>A
NM_147204.2:c.1504G>A
NM_001177428.1:c.1543G>A
NM_001177431.1:c.1582G>A
NP_067638.3:p.Val562Ile
NP_001170904.1:p.Val455Ile
NP_671737.1:p.Val502Ile
NP_001170899.1:p.Val515Ile
NP_001170902.1:p.Val528Ile
91/6213 0.00732 5 Benign
View 12 110240859 110240859 C > A TRPV4 TRPV4 TRPV4 TRPV4 TRPV4 NM_021625.4:c.649G>T
NM_001177433.1:c.649G>T
NM_147204.2:c.649G>T
NM_001177428.1:c.649G>T
NM_001177431.1:c.547G>T
NP_067638.3:p.Ala217Ser
NP_001170904.1:p.Ala217Ser
NP_671737.1:p.Ala217Ser
NP_001170899.1:p.Ala217Ser
NP_001170902.1:p.Ala183Ser
41/6213 0.00354 5 Benign
View 12 111066563 111066565 AAA > - TCTN1 TCTN1 TCTN1 TCTN1 TCTN1 NM_001173975.1:c.305-6_305-4del
NM_001082537.2:c.473-6_473-4del
NM_001082538.2:c.473-6_473-4del
NM_001173976.1:c.293-6_293-4del
NM_024549.5:c.473-6_473-4del
118/6213 0.01014 5 Common ExAC MAF original cat: TYPE_3 - polypyrimidine_tract 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
69/6213 0.00563 5 Benign
View 12 122296608 122296608 A > C HPD HPD NM_001171993.1:c.-103T>G
ENST00000289004.4:c.15T>G
ENSP00000289004.4:p.Ser5Arg
122/6866 0.00939 5 Common ExAC MAF original cat: TYPE_3 - non_synonymous Benign
View 12 124221796 124221796 G > A ATP6V0A2 NM_012463.3:c.1016G>A
NP_036595.2:p.Arg339His
138/8004 0.00868 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
131/8004 0.00825 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
53/6213 0.00451 5 five_prime_flank Benign
View 13 20763341 20763341 C > T GJB2 NM_004004.5:c.380G>A
NP_003995.2:p.Arg127His
69/8004 0.00462 5 Benign
View 13 20763735 20763735 G > A GJB2 NM_004004.5:c.-15C>T
65/7965 0.00427 5 Benign
View 13 20763754 20763754 G > A GJB2 NM_004004.5:c.-22-12C>T
287/7966 0.0199 5 Benign
View 13 23909142 23909142 T > C SACS SACS NM_014363.5:c.8873A>G
NM_001278055.1:c.8432A>G
NP_055178.3:p.Lys2958Arg
NP_001264984.1:p.Lys2811Arg
96/8004 0.00612 5 Common ExAC MAF original cat: TYPE_3 - non_synonymous Benign
View 13 32911463 32911463 A > G BRCA2 ENST00000380152.3:c.2971A>G
ENSP00000369497.3:p.Asn991Asp
511/6214 0.04208 5 Common ExAC MAF original cat: TYPE_3 - non_synonymous Benign
View 13 32914592 32914592 C > T BRCA2 ENST00000380152.3:c.6100C>T
ENSP00000369497.3:p.Arg2034Cys
70/6213 0.00563 5 Benign
View 13 32914815 32914815 G > A BRCA2 ENST00000380152.3:c.6323G>A
ENSP00000369497.3:p.Arg2108His
15/6213 0.00121 5 Benign
View 13 32929007 32929007 G > C BRCA2 ENST00000380152.3:c.7017G>C
ENSP00000369497.3:p.Lys2339Asn
22/6213 0.00177 5 Benign
View 13 32930598 32930598 T > C BRCA2 ENST00000380152.3:c.7469T>C
ENSP00000369497.3:p.Ile2490Thr
124/6214 0.01062 5 Benign
View 13 32953550 32953550 G > A BRCA2 ENST00000380152.3:c.8851G>A
ENSP00000369497.3:p.Ala2951Thr
76/6213 0.0062 5 Benign
View 13 32972626 32972626 A > T BRCA2 ENST00000380152.3:c.9976A>T
ENSP00000369497.3:p.Lys3326Ter
112/6213 0.00917 5 premature_stop Benign
View 13 32972884 32972884 A > G BRCA2 ENST00000380152.3:c.10234A>G
ENSP00000369497.3:p.Ile3412Val
170/6214 0.01416 5 Benign
View 13 39262669 39262669 G > C FREM2 NM_207361.4:c.1188G>C
NP_997244.3:p.Gln396His
34/8004 0.00225 5 non_synonymous Benign
View 13 39264597 39264597 T > A FREM2 NM_207361.4:c.3116T>A
NP_997244.3:p.Met1039Lys
79/8004 0.00494 5 Common ExAC MAF original cat: TYPE_3 - non_synonymous Benign
View 13 39452993 39452993 C > T FREM2 NM_207361.4:c.8885C>T
NP_997244.3:p.Ala2962Val
83/8004 0.00525 5 Common ExAC MAF original cat: TYPE_3 - non_synonymous Benign
View 13 48571139 48571139 A > C SUCLA2 NM_003850.2:c.110T>G
NP_003841.1:p.Leu37Trp
106/8004 0.00662 5 Common ExAC MAF original cat: TYPE_3 - non_synonymous Benign
View 13 100635010 100635011 - > CCA ZIC2 NM_007129.3:c.716_718dupACC
NP_009060.2:p.His239dup
103/6213 0.00837 5 Benign
View 13 101020827 101020827 C > T PCCA PCCA PCCA NM_000282.3:c.1745C>T
NM_001127692.2:c.1667C>T
NM_001178004.1:c.1745C>T
NP_000273.2:p.Ser582Leu
NP_001121164.1:p.Ser556Leu
NP_001171475.1:p.Ser582Leu
68/8004 0.00456 5 Common ExAC MAF original cat: TYPE_3 - non_synonymous Benign
View 13 110853882 110853882 G > C COL4A1 NM_001845.4:c.1000-13C>G
44/6175 0.00356 5 polypyrimidine_tract Benign
View 13 110866109 110866109 T > A COL4A1 NM_001845.4:c.279+20A>T
29/6174 0.00235 5 five_prime_intronic Benign
View 13 111084656 111084656 C > T COL4A2 ENST00000360467.5:c.649-16C>T
34/6174 0.00275 5 three_prime_flank Benign
View 13 111121570 111121570 A > G COL4A2 ENST00000360467.5:c.2102A>G
ENSP00000353654.5:p.Lys701Arg
90/6213 0.0074 5 Common ExAC MAF original cat: TYPE_3 - non_synonymous Benign
View 14 20943408 20943408 G > A PNP NM_000270.3:c.649G>A
NP_000261.2:p.Val217Ile
19/6213 0.00161 5 non_synonymous Benign
View 14 21792807 21792807 G > A RPGRIP1 NM_020366.3:c.1793G>A
NP_065099.3:p.Arg598Gln
54/6213 0.00435 5 Benign
Displaying 100 through 150 of 706 variants