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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 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
140/11422 0.00613 5 Benign
View 13 28498699 28498700 - > GCC PDX1 NM_000209.3:c.726_728dupGCC
NP_000200.1:p.Pro244dup
132/9594 0.0073 5 Benign
View 13 32911463 32911463 A > G BRCA2 ENST00000380152.3:c.2971A>G
ENSP00000369497.3:p.Asn991Asp
766/9595 0.04054 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
25/9594 0.0013 5 non_synonymous Benign
View 13 32913077 32913077 G > A BRCA2 ENST00000380152.3:c.4585G>A
ENSP00000369497.3:p.Gly1529Arg
12/9594 0.00063 5 Benign
View 13 32914592 32914592 C > T BRCA2 ENST00000380152.3:c.6100C>T
ENSP00000369497.3:p.Arg2034Cys
115/9594 0.00599 5 Benign
View 13 32914712 32914712 C > A BRCA2 ENST00000380152.3:c.6220C>A
ENSP00000369497.3:p.His2074Asn
25/9594 0.0013 5 Benign
View 13 32914815 32914815 G > A BRCA2 ENST00000380152.3:c.6323G>A
ENSP00000369497.3:p.Arg2108His
25/9594 0.0013 5 Benign
View 13 32929007 32929007 G > C BRCA2 ENST00000380152.3:c.7017G>C
ENSP00000369497.3:p.Lys2339Asn
35/9594 0.00182 5 Benign
View 13 32930598 32930598 T > C BRCA2 ENST00000380152.3:c.7469T>C
ENSP00000369497.3:p.Ile2490Thr
208/9595 0.01167 5 Benign
View 13 32953550 32953550 G > A BRCA2 ENST00000380152.3:c.8851G>A
ENSP00000369497.3:p.Ala2951Thr
132/9594 0.00693 5 Benign
View 13 32972626 32972626 A > T BRCA2 ENST00000380152.3:c.9976A>T
ENSP00000369497.3:p.Lys3326Ter
161/9594 0.00849 5 premature_stop Benign
View 13 32972884 32972884 A > G BRCA2 ENST00000380152.3:c.10234A>G
ENSP00000369497.3:p.Ile3412Val
345/9595 0.01845 5 Benign
View 13 37441448 37441448 G > T SMAD9 SMAD9 NM_005905.5:c.671-1553C>A
NM_001127217.2:c.743C>A
NP_001120689.1:p.Thr248Lys
176/9594 0.00943 5 non_synonymous Benign
View 13 39262669 39262669 G > C FREM2 NM_207361.4:c.1188G>C
NP_997244.3:p.Gln396His
53/11422 0.00241 5 non_synonymous Benign
View 13 39264597 39264597 T > A FREM2 NM_207361.4:c.3116T>A
NP_997244.3:p.Met1039Lys
118/11422 0.00521 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
137/11422 0.00604 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
165/11422 0.00727 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
193/9594 0.01011 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
106/11422 0.00495 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
75/9556 0.00392 5 polypyrimidine_tract Benign
View 13 110866109 110866109 T > A COL4A1 NM_001845.4:c.279+20A>T
61/9555 0.00319 5 five_prime_intronic Benign
View 13 111084656 111084656 C > T COL4A2 ENST00000360467.5:c.649-16C>T
63/9555 0.0033 5 three_prime_flank Benign
View 13 111121570 111121570 A > G COL4A2 ENST00000360467.5:c.2102A>G
ENSP00000353654.5:p.Lys701Arg
164/9594 0.00886 5 Common ExAC MAF original cat: TYPE_3 - non_synonymous Benign
View 13 111298304 111298304 G > A CARS2 NM_024537.2:c.1317+10C>T
118/9594 0.00615 5 five_prime_intronic Benign
View 13 115090981 115090981 G > A CHAMP1 CHAMP1 CHAMP1 NM_032436.2:c.1664G>A
NM_001164145.1:c.1664G>A
NM_001164144.1:c.1664G>A
NP_115812.1:p.Arg555Gln
NP_001157617.1:p.Arg555Gln
NP_001157616.1:p.Arg555Gln
16/9594 0.00083 5 non_synonymous Benign
View 14 20940449 20940449 A > T PNP NM_000270.3:c.12-18A>T
84/9555 0.0044 5 three_prime_flank Benign
View 14 20943408 20943408 G > A PNP NM_000270.3:c.649G>A
NP_000261.2:p.Val217Ile
35/9594 0.00188 5 non_synonymous Benign
View 14 21769162 21769162 C > T RPGRIP1 NM_020366.3:c.256C>T
NP_065099.3:p.Arg86Trp
45/9594 0.00235 5 Benign
View 14 21792807 21792807 G > A RPGRIP1 NM_020366.3:c.1793G>A
NP_065099.3:p.Arg598Gln
89/9594 0.00464 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
19/9594 0.00099 5 non_synonymous Benign
View 14 23876267 23876267 C > T MYH6 NM_002471.3:c.166G>A
NP_002462.2:p.Gly56Arg
1414/9597 0.07726 5 Benign
View 14 50649172 50649172 T > C SOS2 NM_006939.2:c.858+9A>G
25/9595 0.00135 5 five_prime_intronic Benign
View 14 50655357 50655357 G > C SOS2 NM_006939.2:c.572C>G
NP_008870.2:p.Pro191Arg
92/9594 0.0049 5 non_synonymous Benign
View 14 50915566 50915566 C > G MAP4K5 MAP4K5 NM_006575.4:c.1016-16G>C
NM_198794.2:c.1016-16G>C
39/9555 0.00204 5 three_prime_flank 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
110/9555 0.00576 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
182/9594 0.00949 5 Benign
View 14 77493788 77493788 C > - IRF2BPL NM_024496.3:c.348del
NP_078772.1:p.Gln116HisfsTer36
153/9558 0.00832 5 frameshift Benign
View 14 77493790 77493800 GCTGTTGCTGC > - IRF2BPL NM_024496.3:c.336_346del
NP_078772.1:p.Gln113AlafsTer16
113/9555 0.00617 5 frameshift Benign
View 14 81606214 81606214 A > G TSHR NM_000369.2:c.881+3A>G
98/9594 0.00511 5 five_prime_flank Benign
View 14 95236139 95236139 C > T GSC NM_173849.2:c.214G>A
NP_776248.1:p.Ala72Thr
87/9594 0.00469 5 non_synonymous Benign
View 14 104029361 104029361 A > G APOPT1 NM_032374.3:c.62A>G
NP_115750.2:p.Lys21Arg
101/9594 0.00558 5 non_synonymous Benign
View 15 23890198 23890198 T > C MAGEL2 NM_019066.4:c.2692A>G
NP_061939.3:p.Ser898Gly
33/9594 0.00172 5 non_synonymous Benign
View 15 23890278 23890278 G > A MAGEL2 NM_019066.4:c.2612C>T
NP_061939.3:p.Ala871Val
38/9594 0.00208 5 non_synonymous Benign
View 15 23890279 23890279 C > A MAGEL2 NM_019066.4:c.2611G>T
NP_061939.3:p.Ala871Ser
37/9594 0.00203 5 non_synonymous Benign
View 15 23891505 23891525 del > - MAGEL2 NM_019066.4:c.1365_1385del
NP_061939.3:p.Pro456_Pro-325del
44/9594 0.00229 5 in_frame_indel Benign
View 15 23891811 23891811 G > A MAGEL2 NM_019066.4:c.1079C>T
NP_061939.3:p.Ala360Val
174/9594 0.00912 5 non_synonymous Benign
View 15 23891989 23891989 G > A MAGEL2 NM_019066.4:c.901C>T
NP_061939.3:p.Pro301Ser
67/9594 0.00349 5 non_synonymous Benign
View 15 23892507 23892507 A > G MAGEL2 NM_019066.4:c.383T>C
NP_061939.3:p.Leu128Pro
39/9594 0.00203 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=
83/10293 0.00408 5 Benign
Displaying 200 through 250 of 1,030 variants