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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 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
65/5119 0.00645 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
106/5772 0.00979 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
121/6913 0.00875 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
114/6913 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
46/5119 0.00479 5 five_prime_flank Benign
View 13 20763754 20763754 G > A GJB2 NM_004004.5:c.-22-12C>T
244/6895 0.01972 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
88/6913 0.00644 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
416/5120 0.0417 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
57/5119 0.00557 5 Benign
View 13 32929007 32929007 G > C BRCA2 ENST00000380152.3:c.7017G>C
ENSP00000369497.3:p.Lys2339Asn
19/5119 0.00186 5 Benign
View 13 32930598 32930598 T > C BRCA2 ENST00000380152.3:c.7469T>C
ENSP00000369497.3:p.Ile2490Thr
99/5120 0.01016 5 Benign
View 13 32953550 32953550 G > A BRCA2 ENST00000380152.3:c.8851G>A
ENSP00000369497.3:p.Ala2951Thr
64/5119 0.00635 5 Benign
View 13 32972626 32972626 A > T BRCA2 ENST00000380152.3:c.9976A>T
ENSP00000369497.3:p.Lys3326Ter
105/5119 0.01045 5 premature_stop Benign
View 13 32972884 32972884 A > G BRCA2 ENST00000380152.3:c.10234A>G
ENSP00000369497.3:p.Ile3412Val
117/5120 0.01182 5 Benign
View 13 37576613 37576614 AT > - EXOSC8 NM_181503.2:c.55-10_55-9del
33/5101 0.00333 5 Common ExAC MAF original cat: TYPE_3 - polypyrimidine_tract Benign
View 13 39262669 39262669 G > C FREM2 NM_207361.4:c.1188G>C
NP_997244.3:p.Gln396His
29/6913 0.00217 5 non_synonymous Benign
View 13 39264597 39264597 T > A FREM2 NM_207361.4:c.3116T>A
NP_997244.3:p.Met1039Lys
63/6913 0.00456 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
68/6913 0.00492 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
86/6913 0.00622 5 Common ExAC MAF original cat: TYPE_3 - non_synonymous Benign
View 13 101020827 101020827 C > T PCCA PCCA PCCA NM_001178004.1:c.1745C>T
NM_000282.3:c.1745C>T
NM_001127692.2:c.1667C>T
NP_001171475.1:p.Ser582Leu
NP_000273.2:p.Ser582Leu
NP_001121164.1:p.Ser556Leu
59/6913 0.00463 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
28/5102 0.00274 5 polypyrimidine_tract Benign
View 13 110866109 110866109 T > A COL4A1 NM_001845.4:c.279+20A>T
25/5101 0.00245 5 five_prime_intronic Benign
View 13 111084656 111084656 C > T COL4A2 ENST00000360467.5:c.649-16C>T
26/5101 0.00255 5 three_prime_flank Benign
View 13 111121570 111121570 A > G COL4A2 ENST00000360467.5:c.2102A>G
ENSP00000353654.5:p.Lys701Arg
77/5119 0.00772 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
16/5119 0.00166 5 non_synonymous Benign
View 14 21792807 21792807 G > A RPGRIP1 NM_020366.3:c.1793G>A
NP_065099.3:p.Arg598Gln
44/5119 0.0043 5 Benign
View 14 23876267 23876267 C > T MYH6 NM_002471.3:c.166G>A
NP_002462.2:p.Gly56Arg
802/5122 0.08141 5 Benign
View 14 50655357 50655357 G > C SOS2 NM_006939.2:c.572C>G
NP_008870.2:p.Pro191Arg
51/5119 0.00518 5 non_synonymous Benign
View 14 58949211 58949212 - > T KIAA0586 KIAA0586 KIAA0586 KIAA0586 KIAA0586 KIAA0586 NM_014749.3:c.2717-9dupT
NM_001244191.1:c.2690-9dupT
NM_001244190.1:c.2900-9dupT
NM_001244192.1:c.2813-9dupT
NM_001244189.1:c.3104-9dupT
NM_001244193.1:c.2525-9dupT
39/5101 0.00382 5 three_prime_flank Benign
View 14 104029361 104029361 A > G APOPT1 NM_032374.3:c.62A>G
NP_115750.2:p.Lys21Arg
36/5119 0.00381 5 non_synonymous Benign
View 15 23890278 23890278 G > A MAGEL2 NM_019066.4:c.2612C>T
NP_061939.3:p.Ala871Val
14/5119 0.00137 5 non_synonymous Benign
View 15 23890279 23890279 C > A MAGEL2 NM_019066.4:c.2611G>T
NP_061939.3:p.Ala871Ser
14/5119 0.00137 5 non_synonymous Benign
View 15 23891811 23891811 G > A MAGEL2 NM_019066.4:c.1079C>T
NP_061939.3:p.Ala360Val
83/5119 0.0082 5 non_synonymous Benign
View 15 25584285 25584285 T > C UBE3A UBE3A UBE3A NM_130839.2:c.2618A>G
NM_000462.3:c.2627A>G
NM_130838.1:c.2558A>G
NM_130839.2:c.2618A>G(p.=)
NM_000462.3:c.2627A>G(p.=)
NM_130838.1:c.2558A>G(p.=)
32/5771 0.00277 5 Benign
View 15 28447657 28447657 G > T HERC2 NM_004667.5:c.7316C>A
NP_004658.3:p.Ala2439Asp
44/5119 0.0043 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
22/5101 0.00216 5 five_prime_intronic Benign
View 15 43020434 43020434 G > A CDAN1 NM_138477.2:c.2836C>T
NP_612486.2:p.Arg946Trp
29/5119 0.00283 5 non_synonymous Benign
View 15 44855395 44855395 T > C SPG11 SPG11 NM_001160227.1:c.6917A>G
NM_025137.3:c.7256A>G
NP_001153699.1:p.Lys2306Arg
NP_079413.3:p.Lys2419Arg
34/5119 0.00352 5 Benign
View 15 45397993 45397993 C > T DUOX2 NM_014080.4:c.2182G>A
NP_054799.4:p.Ala728Thr
108/5119 0.01055 5 Benign
View 15 45403967 45403967 A > G DUOX2 NM_014080.4:c.512T>C
NP_054799.4:p.Leu171Pro
39/5119 0.00381 3 non_synonymous Benign
View 15 48722907 48722907 G > A FBN1 ENST00000316623.5:c.6832C>T
ENSP00000325527.5:p.Pro2278Ser
20/5120 0.00225 5 Benign
View 15 48748913 48748913 C > T FBN1 ENST00000316623.5:c.5343G>A
ENST00000316623.5:c.5343G>A(p.=)
63/5119 0.00635 5 Benign
View 15 48780353 48780353 G > A FBN1 ENST00000316623.5:c.3294C>T
ENST00000316623.5:c.3294C>T(p.=)
57/5119 0.00557 5 Benign
View 15 48782042 48782042 T > C FBN1 ENST00000316623.5:c.3082+6A>G
26/5119 0.00254 5 five_prime_flank Benign
View 15 48796042 48796042 G > A FBN1 ENST00000316623.5:c.2055C>T
ENST00000316623.5:c.2055C>T(p.=)
11/5119 0.00107 5 Benign
View 15 57554344 57554344 T > G TCF12 TCF12 TCF12 TCF12 TCF12 NM_207037.1:c.1520T>G
NM_207036.1:c.1520T>G
NM_207040.1:c.938T>G
NM_003205.3:c.1448T>G
NM_207038.1:c.1448T>G
NP_996920.1:p.Leu507Arg
NP_996919.1:p.Leu507Arg
NP_996923.1:p.Leu313Arg
NP_003196.1:p.Leu483Arg
NP_996921.1:p.Leu483Arg
8/5119 0.00078 1 Benign
View 15 66777315 66777316 - > TC MAP2K1 NM_002755.3:c.694-8_694-7dupTC
46/5101 0.00451 5 polypyrimidine_tract Benign
View 15 72639003 72639003 T > C HEXA NM_000520.4:c.1195A>G
NP_000511.2:p.Asn399Asp
145/6913 0.01078 5 Common ExAC MAF original cat: TYPE_3 - non_synonymous Benign
View 15 73002101 73002101 A > G BBS4 BBS4 BBS4 BBS4 NR_045566.1:n.499A>G
NR_045565.1:n.244A>G
ENST00000268057.4:c.137A>G
ENST00000395205.2:c.161A>G
ENSP00000268057.4:p.Lys46Arg
ENSP00000378631.2:p.Lys54Arg
61/5119 0.00596 5 Benign
View 15 89867424 89867424 C > T POLG POLG NM_002693.2:c.1984G>A
NM_001126131.1:c.1984G>A
NP_002684.1:p.Glu662Lys
NP_001119603.1:p.Glu662Lys
71/6913 0.00564 5 Common ExAC MAF original cat: TYPE_3 - non_synonymous Benign
Displaying 100 through 150 of 560 variants