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Chr Start Stop Change Gene(s) HGVS_C HGVS_P Sample Count CMH MAF ACMG Cat. ACMG Note Curation
View 13 32929007 32929007 G > C BRCA2 ENST00000380152.3:c.7017G>C
ENSP00000369497.3:p.Lys2339Asn
26/6955 0.00187 5 Benign
View 13 32930598 32930598 T > C BRCA2 ENST00000380152.3:c.7469T>C
ENSP00000369497.3:p.Ile2490Thr
149/6956 0.0115 5 Benign
View 13 32953550 32953550 G > A BRCA2 ENST00000380152.3:c.8851G>A
ENSP00000369497.3:p.Ala2951Thr
90/6955 0.00654 5 Benign
View 13 32972626 32972626 A > T BRCA2 ENST00000380152.3:c.9976A>T
ENSP00000369497.3:p.Lys3326Ter
124/6955 0.00906 5 premature_stop Benign
View 13 32972884 32972884 A > G BRCA2 ENST00000380152.3:c.10234A>G
ENSP00000369497.3:p.Ile3412Val
212/6956 0.01567 5 Benign
View 13 39262669 39262669 G > C FREM2 NM_207361.4:c.1188G>C
NP_997244.3:p.Gln396His
39/8745 0.00234 5 non_synonymous Benign
View 13 39264597 39264597 T > A FREM2 NM_207361.4:c.3116T>A
NP_997244.3:p.Met1039Lys
91/8745 0.0052 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
92/8745 0.00532 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
118/8745 0.00675 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
130/6955 0.00942 5 Benign
View 13 101020827 101020827 C > T PCCA PCCA PCCA NM_000282.3:c.1745C>T
NM_001178004.1:c.1745C>T
NM_001127692.2:c.1667C>T
NP_000273.2:p.Ser582Leu
NP_001171475.1:p.Ser582Leu
NP_001121164.1:p.Ser556Leu
81/8745 0.00492 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
52/6917 0.00376 5 polypyrimidine_tract Benign
View 13 110866109 110866109 T > A COL4A1 NM_001845.4:c.279+20A>T
30/6916 0.00217 5 five_prime_intronic Benign
View 13 111084656 111084656 C > T COL4A2 ENST00000360467.5:c.649-16C>T
38/6916 0.00275 5 three_prime_flank Benign
View 13 111121570 111121570 A > G COL4A2 ENST00000360467.5:c.2102A>G
ENSP00000353654.5:p.Lys701Arg
111/6955 0.00812 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
28/6955 0.00208 5 non_synonymous Benign
View 14 21792807 21792807 G > A RPGRIP1 NM_020366.3:c.1793G>A
NP_065099.3:p.Arg598Gln
63/6955 0.00453 5 Benign
View 14 21878012 21878012 C > T CHD8 CHD8 NM_020920.3:c.1525G>A
NM_001170629.1:c.2362G>A
NP_065971.2:p.Val509Met
NP_001164100.1:p.Val788Met
14/6955 0.00101 5 non_synonymous Benign
View 14 23876267 23876267 C > T MYH6 NM_002471.3:c.166G>A
NP_002462.2:p.Gly56Arg
1064/6958 0.07976 5 Benign
View 14 50655357 50655357 G > C SOS2 NM_006939.2:c.572C>G
NP_008870.2:p.Pro191Arg
67/6955 0.00496 5 non_synonymous Benign
View 14 58949211 58949212 - > T KIAA0586 KIAA0586 KIAA0586 KIAA0586 KIAA0586 KIAA0586 NM_014749.3:c.2717-9dupT
NM_001244189.1:c.3104-9dupT
NM_001244190.1:c.2900-9dupT
NM_001244191.1:c.2690-9dupT
NM_001244192.1:c.2813-9dupT
NM_001244193.1:c.2525-9dupT
56/6916 0.00405 5 three_prime_flank Benign
View 14 75514489 75514489 C > G MLH3 MLH3 NM_014381.2:c.1870G>C
NM_001040108.1:c.1870G>C
NP_055196.2:p.Glu624Gln
NP_001035197.1:p.Glu624Gln
132/6955 0.00949 5 Benign
View 14 95236139 95236139 C > T GSC NM_173849.2:c.214G>A
NP_776248.1:p.Ala72Thr
55/6955 0.0041 5 non_synonymous Benign
View 14 104029361 104029361 A > G APOPT1 NM_032374.3:c.62A>G
NP_115750.2:p.Lys21Arg
62/6955 0.00482 5 non_synonymous Benign
View 15 23890198 23890198 T > C MAGEL2 NM_019066.4:c.2692A>G
NP_061939.3:p.Ser898Gly
18/6955 0.00129 5 non_synonymous Benign
View 15 23890278 23890278 G > A MAGEL2 NM_019066.4:c.2612C>T
NP_061939.3:p.Ala871Val
28/6955 0.00208 5 non_synonymous Benign
View 15 23890279 23890279 C > A MAGEL2 NM_019066.4:c.2611G>T
NP_061939.3:p.Ala871Ser
28/6955 0.00208 5 non_synonymous Benign
View 15 23891811 23891811 G > A MAGEL2 NM_019066.4:c.1079C>T
NP_061939.3:p.Ala360Val
120/6955 0.0087 5 non_synonymous Benign
View 15 23891989 23891989 G > A MAGEL2 NM_019066.4:c.901C>T
NP_061939.3:p.Pro301Ser
35/6955 0.00252 5 non_synonymous Benign
View 15 25584285 25584285 T > C UBE3A UBE3A UBE3A NM_130839.2:c.2618A>G
NM_130838.1:c.2558A>G
NM_000462.3:c.2627A>G
NP_570854.1:p.Ter873=
NP_570853.1:p.Ter853=
NP_000453.2:p.Ter876=
51/7607 0.00342 5 Benign
View 15 28447657 28447657 G > T HERC2 NM_004667.5:c.7316C>A
NP_004658.3:p.Ala2439Asp
44/6955 0.00316 5 non_synonymous Benign
View 15 33952638 33952638 C > T RYR3 RYR3 NM_001243996.1:c.4622+14C>T
NM_001036.3:c.4622+14C>T
30/6916 0.00217 5 five_prime_intronic Benign
View 15 40457337 40457337 C > T BUB1B ENST00000287598.6:c.119C>T
ENSP00000287598.6:p.Thr40Met
75/6955 0.00568 5 Benign
View 15 42693833 42693833 G > A CAPN3 CAPN3 CAPN3 NM_173087.1:c.1211-6G>A
NM_000070.2:c.1355-6G>A
NM_024344.1:c.1355-6G>A
57/6955 0.00417 5 Benign
View 15 43020434 43020434 G > A CDAN1 NM_138477.2:c.2836C>T
NP_612486.2:p.Arg946Trp
45/6955 0.00324 5 non_synonymous Benign
View 15 44855395 44855395 T > C SPG11 SPG11 NM_025137.3:c.7256A>G
NM_001160227.1:c.6917A>G
NP_079413.3:p.Lys2419Arg
NP_001153699.1:p.Lys2306Arg
45/6955 0.00338 5 Benign
View 15 45392075 45392075 G > A DUOX2 NM_014080.4:c.3200C>T
NP_054799.4:p.Ser1067Leu
6524/6964 0.85332 5 Benign
View 15 45397993 45397993 C > T DUOX2 NM_014080.4:c.2182G>A
NP_054799.4:p.Ala728Thr
136/6955 0.00978 5 Benign
View 15 45403967 45403967 A > G DUOX2 NM_014080.4:c.512T>C
NP_054799.4:p.Leu171Pro
50/6955 0.00367 3 non_synonymous Benign
View 15 45403978 45403978 G > A DUOX2 NM_014080.4:c.501C>T
NP_054799.4:p.Asn167=
52/6955 0.00381 5 synonymous Benign
View 15 45408933 45408933 T > C DUOXA2 NM_207581.3:c.554+6T>C
6628/6963 0.86127 5 Benign
View 15 48722907 48722907 G > A FBN1 ENST00000316623.5:c.6832C>T
ENSP00000325527.5:p.Pro2278Ser
33/6956 0.00259 5 Benign
View 15 48748913 48748913 C > T FBN1 ENST00000316623.5:c.5343G>A
ENSP00000325527.5:p.Val1781=
81/6955 0.00597 5 Benign
View 15 48780353 48780353 G > A FBN1 ENST00000316623.5:c.3294C>T
ENSP00000325527.5:p.Asp1098=
79/6955 0.00575 5 Benign
View 15 48782042 48782042 T > C FBN1 ENST00000316623.5:c.3082+6A>G
48/6955 0.00345 5 five_prime_flank Benign
View 15 48782174 48782174 C > T FBN1 ENST00000316623.5:c.2956G>A
ENSP00000325527.5:p.Ala986Thr
14/6955 0.00115 5 Benign
View 15 48796042 48796042 G > A FBN1 ENST00000316623.5:c.2055C>T
ENSP00000325527.5:p.Cys685=
15/6955 0.00108 5 Benign
View 15 48818329 48818329 A > G FBN1 ENST00000316623.5:c.986T>C
ENSP00000325527.5:p.Ile329Thr
31/6955 0.00223 5 Benign
View 15 57554344 57554344 T > G TCF12 TCF12 TCF12 TCF12 TCF12 NM_207040.1:c.938T>G
NM_003205.3:c.1448T>G
NM_207038.1:c.1448T>G
NM_207037.1:c.1520T>G
NM_207036.1:c.1520T>G
NP_996923.1:p.Leu313Arg
NP_003196.1:p.Leu483Arg
NP_996921.1:p.Leu483Arg
NP_996920.1:p.Leu507Arg
NP_996919.1:p.Leu507Arg
14/6955 0.00101 1 Benign
View 15 66777315 66777316 - > TC MAP2K1 NM_002755.3:c.694-8_694-7dupTC
59/6916 0.00427 5 polypyrimidine_tract Benign
Displaying 150 through 200 of 797 variants