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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
78/8685 0.00466 5 non_synonymous Benign
View 12 15130918 15130918 G > C PDE6H NM_006205.2:c.-29G>C
33/8646 0.00191 5 Benign
View 12 21355489 21355489 C > G SLCO1B1 NM_006446.4:c.1200C>G
NP_006437.3:p.Phe400Leu
80/9129 0.00471 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
22/8686 0.00127 5 Benign
View 12 48369407 48369407 A > C COL2A1 COL2A1 NM_033150.2:c.3391-19T>G
NM_001844.4:c.3598-19T>G
20/8647 0.00116 5 three_prime_flank Benign
View 12 49420078 49420078 C > T KMT2D NM_003482.3:c.15671G>A
NP_003473.3:p.Arg5224His
3/8685 0.00017 5 non_synonymous Benign
View 12 49433848 49433848 C > T KMT2D NM_003482.3:c.7705G>A
NP_003473.3:p.Gly2569Ser
16/8685 0.00092 5 non_synonymous Benign
View 12 49433883 49433883 G > A KMT2D NM_003482.3:c.7670C>T
NP_003473.3:p.Pro2557Leu
155/8685 0.00892 5 non_synonymous Benign
View 12 49434924 49434924 G > A KMT2D NM_003482.3:c.6629C>T
NP_003473.3:p.Pro2210Leu
29/8685 0.00167 5 non_synonymous Benign
View 12 49445190 49445216 del > - KMT2D NM_003482.3:c.2250_2276del
NP_003473.3:p.Arg755_Pro-4015del
26/8685 0.00161 5 in_frame_indel Benign
View 12 49445392 49445392 G > T KMT2D NM_003482.3:c.2074C>A
NP_003473.3:p.Pro692Thr
76/8685 0.00438 5 non_synonymous Benign
View 12 49445526 49445526 G > T KMT2D NM_003482.3:c.1940C>A
NP_003473.3:p.Pro647Gln
9/8685 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
27/8685 0.00167 5 non_synonymous Benign
View 12 52965165 52965165 A > G KRT74 NM_175053.3:c.821T>C
NP_778223.2:p.Phe274Ser
18/8685 0.00104 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
45/8685 0.00271 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
140/8685 0.00806 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
64/8685 0.00368 5 non_synonymous Benign
View 12 88483274 88483274 A > - CEP290 ENST00000552810.1:c.3574-9del
47/10521 0.00413 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
74/8685 0.00432 5 five_prime_intronic Benign
View 12 103352174 103352175 - > GCAGCAGCAGCA ASCL1 NM_004316.3:c.175_186dupCAGCAGCAGCAG
NP_004307.2:p.Gln59_Gln62dup
70/8685 0.00403 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
131/8685 0.00754 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
80/8685 0.00478 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
166/8685 0.01007 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
25/8685 0.00144 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
89/8685 0.00524 5 Benign
View 12 116445451 116445451 A > - MED13L NM_015335.4:c.2013-10del
131/8685 0.00771 5 polypyrimidine_tract Benign
View 12 116445451 116445452 - > A MED13L NM_015335.4:c.2013-10dupT
70/8685 0.00415 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
195/9385 0.01092 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
337/8646 0.01972 5 polypyrimidine_tract Benign
View 12 124221796 124221796 G > A ATP6V0A2 NM_012463.3:c.1016G>A
NP_036595.2:p.Arg339His
208/10521 0.00998 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
194/10521 0.00931 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
82/8685 0.00495 5 five_prime_flank Benign
View 13 20763341 20763341 C > T GJB2 NM_004004.5:c.380G>A
NP_003995.2:p.Arg127His
84/10521 0.00423 5 Benign
View 13 20763735 20763735 G > A GJB2 NM_004004.5:c.-15C>T
86/10482 0.00434 5 Benign
View 13 20763754 20763754 G > A GJB2 NM_004004.5:c.-22-12C>T
421/10483 0.02204 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
143/10521 0.00689 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
87/10521 0.00418 5 Benign
View 13 23913549 23913549 T > C SACS SACS NM_001278055.1:c.4025A>G
NM_014363.5:c.4466A>G
NP_001264984.1:p.Asn1342Ser
NP_055178.3:p.Asn1489Ser
133/10521 0.00632 5 Benign
View 13 28498699 28498700 - > GCC PDX1 NM_000209.3:c.726_728dupGCC
NP_000200.1:p.Pro244dup
125/8685 0.00766 5 Benign
View 13 32911463 32911463 A > G BRCA2 ENST00000380152.3:c.2971A>G
ENSP00000369497.3:p.Asn991Asp
705/8686 0.04127 5 Common ExAC MAF original cat: TYPE_3 - non_synonymous Benign
View 13 32912733 32912733 C > T BRCA2 ENST00000380152.3:c.4241C>T
ENSP00000369497.3:p.Thr1414Met
25/8685 0.00144 5 non_synonymous Benign
View 13 32914592 32914592 C > T BRCA2 ENST00000380152.3:c.6100C>T
ENSP00000369497.3:p.Arg2034Cys
105/8685 0.00604 5 Benign
View 13 32914815 32914815 G > A BRCA2 ENST00000380152.3:c.6323G>A
ENSP00000369497.3:p.Arg2108His
24/8685 0.00138 5 Benign
View 13 32929007 32929007 G > C BRCA2 ENST00000380152.3:c.7017G>C
ENSP00000369497.3:p.Lys2339Asn
32/8685 0.00184 5 Benign
View 13 32930598 32930598 T > C BRCA2 ENST00000380152.3:c.7469T>C
ENSP00000369497.3:p.Ile2490Thr
179/8686 0.01094 5 Benign
View 13 32953550 32953550 G > A BRCA2 ENST00000380152.3:c.8851G>A
ENSP00000369497.3:p.Ala2951Thr
117/8685 0.00679 5 Benign
View 13 32972626 32972626 A > T BRCA2 ENST00000380152.3:c.9976A>T
ENSP00000369497.3:p.Lys3326Ter
148/8685 0.00864 5 premature_stop Benign
View 13 32972884 32972884 A > G BRCA2 ENST00000380152.3:c.10234A>G
ENSP00000369497.3:p.Ile3412Val
294/8686 0.01744 5 Benign
View 13 39262669 39262669 G > C FREM2 NM_207361.4:c.1188G>C
NP_997244.3:p.Gln396His
51/10521 0.00252 5 non_synonymous Benign
View 13 39264597 39264597 T > A FREM2 NM_207361.4:c.3116T>A
NP_997244.3:p.Met1039Lys
115/10521 0.00551 5 Common ExAC MAF original cat: TYPE_3 - non_synonymous Benign
Displaying 150 through 200 of 978 variants