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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 39452993 39452993 C > T FREM2 NM_207361.4:c.8885C>T
NP_997244.3:p.Ala2962Val
125/10521 0.00599 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
152/10521 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
171/8685 0.0099 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
99/10521 0.00504 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
69/8647 0.00399 5 polypyrimidine_tract Benign
View 13 110866109 110866109 T > A COL4A1 NM_001845.4:c.279+20A>T
54/8646 0.00312 5 five_prime_intronic Benign
View 13 111084656 111084656 C > T COL4A2 ENST00000360467.5:c.649-16C>T
55/8646 0.00318 5 three_prime_flank Benign
View 13 111121570 111121570 A > G COL4A2 ENST00000360467.5:c.2102A>G
ENSP00000353654.5:p.Lys701Arg
144/8685 0.00852 5 Common ExAC MAF original cat: TYPE_3 - non_synonymous 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
16/8685 0.00092 5 non_synonymous Benign
View 14 20943408 20943408 G > A PNP NM_000270.3:c.649G>A
NP_000261.2:p.Val217Ile
33/8685 0.00196 5 non_synonymous Benign
View 14 21769162 21769162 C > T RPGRIP1 NM_020366.3:c.256C>T
NP_065099.3:p.Arg86Trp
39/8685 0.00225 5 Benign
View 14 21792807 21792807 G > A RPGRIP1 NM_020366.3:c.1793G>A
NP_065099.3:p.Arg598Gln
87/8685 0.00501 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
16/8685 0.00092 5 non_synonymous Benign
View 14 23876267 23876267 C > T MYH6 NM_002471.3:c.166G>A
NP_002462.2:p.Gly56Arg
1290/8688 0.07787 5 Benign
View 14 50649172 50649172 T > C SOS2 NM_006939.2:c.858+9A>G
23/8686 0.00138 5 five_prime_intronic Benign
View 14 50655357 50655357 G > C SOS2 NM_006939.2:c.572C>G
NP_008870.2:p.Pro191Arg
82/8685 0.00484 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
90/8646 0.0052 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
162/8685 0.00933 5 Benign
View 14 77493788 77493788 C > - IRF2BPL NM_024496.3:c.348del
NP_078772.1:p.Gln116HisfsTer36
137/8649 0.00827 5 frameshift Benign
View 14 77493790 77493800 GCTGTTGCTGC > - IRF2BPL NM_024496.3:c.336_346del
NP_078772.1:p.Gln113AlafsTer16
103/8646 0.00625 5 frameshift Benign
View 14 81606214 81606214 A > G TSHR NM_000369.2:c.881+3A>G
95/8685 0.00547 5 five_prime_flank Benign
View 14 95236139 95236139 C > T GSC NM_173849.2:c.214G>A
NP_776248.1:p.Ala72Thr
74/8685 0.00438 5 non_synonymous Benign
View 14 104029361 104029361 A > G APOPT1 NM_032374.3:c.62A>G
NP_115750.2:p.Lys21Arg
94/8685 0.00576 5 non_synonymous Benign
View 15 23890198 23890198 T > C MAGEL2 NM_019066.4:c.2692A>G
NP_061939.3:p.Ser898Gly
28/8685 0.00161 5 non_synonymous Benign
View 15 23890278 23890278 G > A MAGEL2 NM_019066.4:c.2612C>T
NP_061939.3:p.Ala871Val
37/8685 0.00225 5 non_synonymous Benign
View 15 23890279 23890279 C > A MAGEL2 NM_019066.4:c.2611G>T
NP_061939.3:p.Ala871Ser
36/8685 0.00219 5 non_synonymous Benign
View 15 23891811 23891811 G > A MAGEL2 NM_019066.4:c.1079C>T
NP_061939.3:p.Ala360Val
146/8685 0.00846 5 non_synonymous Benign
View 15 23891989 23891989 G > A MAGEL2 NM_019066.4:c.901C>T
NP_061939.3:p.Pro301Ser
54/8685 0.00311 5 non_synonymous Benign
View 15 23892507 23892507 A > G MAGEL2 NM_019066.4:c.383T>C
NP_061939.3:p.Leu128Pro
33/8685 0.0019 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=
71/9384 0.00384 5 Benign
View 15 25601030 25601030 A > G UBE3A UBE3A UBE3A NM_130839.2:c.2124+9T>C
NM_130838.1:c.2064+9T>C
NM_000462.3:c.2133+9T>C
90/9384 0.0048 5 five_prime_intronic Benign
View 15 28447657 28447657 G > T HERC2 NM_004667.5:c.7316C>A
NP_004658.3:p.Ala2439Asp
44/8685 0.00253 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
38/8646 0.0022 5 five_prime_intronic Benign
View 15 40457337 40457337 C > T BUB1B ENST00000287598.6:c.119C>T
ENSP00000287598.6:p.Thr40Met
107/8685 0.00651 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
79/8685 0.00466 5 Benign
View 15 43020434 43020434 G > A CDAN1 NM_138477.2:c.2836C>T
NP_612486.2:p.Arg946Trp
51/8685 0.00294 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
55/8685 0.00328 5 Benign
View 15 45392075 45392075 G > A DUOX2 NM_014080.4:c.3200C>T
NP_054799.4:p.Ser1067Leu
7973/8697 0.83218 5 Benign
View 15 45397993 45397993 C > T DUOX2 NM_014080.4:c.2182G>A
NP_054799.4:p.Ala728Thr
160/8685 0.00933 5 Benign
View 15 45403967 45403967 A > G DUOX2 NM_014080.4:c.512T>C
NP_054799.4:p.Leu171Pro
66/8685 0.00386 3 non_synonymous Benign
View 15 45403978 45403978 G > A DUOX2 NM_014080.4:c.501C>T
NP_054799.4:p.Asn167=
72/8685 0.0042 5 synonymous Benign
View 15 45408933 45408933 T > C DUOXA2 NM_207581.3:c.554+6T>C
8103/8695 0.84066 5 Benign
View 15 48722907 48722907 G > A FBN1 ENST00000316623.5:c.6832C>T
ENSP00000325527.5:p.Pro2278Ser
46/8686 0.00282 5 Benign
View 15 48748913 48748913 C > T FBN1 ENST00000316623.5:c.5343G>A
ENSP00000325527.5:p.Val1781=
97/8685 0.0057 5 Benign
View 15 48780353 48780353 G > A FBN1 ENST00000316623.5:c.3294C>T
ENSP00000325527.5:p.Asp1098=
107/8685 0.00622 5 Benign
View 15 48782042 48782042 T > C FBN1 ENST00000316623.5:c.3082+6A>G
59/8685 0.0034 5 five_prime_flank Benign
View 15 48782174 48782174 C > T FBN1 ENST00000316623.5:c.2956G>A
ENSP00000325527.5:p.Ala986Thr
17/8685 0.00109 5 Benign
View 15 48796042 48796042 G > A FBN1 ENST00000316623.5:c.2055C>T
ENSP00000325527.5:p.Cys685=
19/8685 0.00109 5 Benign
View 15 48818329 48818329 A > G FBN1 ENST00000316623.5:c.986T>C
ENSP00000325527.5:p.Ile329Thr
38/8685 0.00219 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
18/8685 0.00104 5 Benign
Displaying 200 through 250 of 978 variants