Download: Excel

Chr Start Stop Change Gene(s) HGVS_C HGVS_P Sample Count CMH MAF ACMG Cat. ACMG Note Curation
View 1 197070594 197070594 A > G ASPM ASPM NM_001206846.1:c.4066-5300T>C
NM_018136.4:c.7787T>C
NP_060606.3:p.Val2596Ala
47/6955 0.00338 4 Common ExAC MAF original cat: TYPE_3 - non_synonymous Likely Benign
View 1 197071654 197071654 C > A ASPM ASPM NM_001206846.1:c.4066-6360G>T
NM_018136.4:c.6727G>T
NP_060606.3:p.Val2243Leu
24/6955 0.00173 4 non_synonymous Likely Benign
View 1 197072640 197072640 T > C ASPM ASPM NM_001206846.1:c.4066-7346A>G
NM_018136.4:c.5741A>G
NP_060606.3:p.Gln1914Arg
14/6955 0.00101 4 non_synonymous Likely Benign
View 1 197074168 197074168 G > A ASPM ASPM NM_001206846.1:c.4066-8874C>T
NM_018136.4:c.4213C>T
NP_060606.3:p.Arg1405Cys
69/6955 0.00503 4 non_synonymous Likely Benign
View 1 197115345 197115345 C > T ASPM ASPM NM_001206846.1:c.223G>A
NM_018136.4:c.223G>A
NP_001193775.1:p.Ala75Thr
NP_060606.3:p.Ala75Thr
44/6955 0.00316 4 Common ExAC MAF original cat: TYPE_3 - non_synonymous Likely Benign
View 1 200534651 200534651 T > G KIF14 NM_014875.2:c.3808A>C
NP_055690.1:p.Ser1270Arg
70/6955 0.00503 4 non_synonymous Likely Benign
View 1 201046058 201046058 C > T CACNA1S NM_000069.2:c.1817G>A
NP_000060.2:p.Ser606Asn
120/7144 0.0084 4 Likely Benign
View 1 201046164 201046164 C > T CACNA1S NM_000069.2:c.1711G>A
NP_000060.2:p.Val571Ile
12/7144 0.00084 3 non_synonymous Likely Benign
View 1 201058391 201058391 A > G CACNA1S NM_000069.2:c.895T>C
NP_000060.2:p.Tyr299His
39/7144 0.00287 4 Common ExAC MAF original cat: TYPE_3 - non_synonymous Likely Benign
View 1 201058513 201058513 C > A CACNA1S NM_000069.2:c.773G>T
NP_000060.2:p.Gly258Val
2/7144 0.00014 4 non_synonymous Likely Benign
View 1 202572108 202572109 CC > - SYT2 SYT2 NM_177402.4:c.465+20_465+21del
NM_001136504.1:c.465+20_465+21del
186/6917 0.02263 4 five_prime_intronic Likely Benign
View 1 204378654 204378654 G > C PPP1R15B NM_032833.3:c.1886C>G
NP_116222.3:p.Ser629Cys
25/6955 0.0018 4 non_synonymous Likely Benign
View 1 207780585 207780585 C > A CR1 CR1 NM_000651.4:c.5811-11C>A
NM_000573.3:c.4461-11C>A
123/6916 0.00896 4 polypyrimidine_tract Likely Benign
View 1 211652382 211652382 T > A RD3 RD3 NM_001164688.1:c.584A>T
NM_183059.2:c.584A>T
NP_001158160.1:p.Asp195Val
NP_898882.1:p.Asp195Val
130/6955 0.00942 4 Likely Benign
View 1 216496932 216496932 C > G USH2A USH2A ENST00000366942.3:c.1434G>C
ENST00000307340.3:c.1434G>C
ENSP00000355909.3:p.Glu478Asp
ENSP00000305941.3:p.Glu478Asp
280/8745 0.01607 4 Likely Benign
View 1 218607532 218607532 G > C TGFB2 TGFB2 NM_001135599.2:c.703G>C
NM_003238.3:c.619G>C
NP_001129071.1:p.Val235Leu
NP_003229.1:p.Val207Leu
64/6955 0.0046 4 Likely Benign
View 1 220101127 220101127 T > C SLC30A10 SLC30A10 NR_046437.1:n.851+16A>G
NM_018713.2:c.640+16A>G
60/6916 0.00455 4 five_prime_intronic Likely Benign
View 1 225592184 225592184 A > C LBR LBR NM_194442.2:c.1609T>G
NM_002296.3:c.1609T>G
NP_919424.1:p.Ser537Ala
NP_002287.2:p.Ser537Ala
20/8745 0.00114 4 non_synonymous Likely Benign
View 1 226026573 226026573 T > C EPHX1 EPHX1 NM_000120.3:c.583T>C
NM_001136018.2:c.583T>C
NP_000111.1:p.Ser195Pro
NP_001129490.1:p.Ser195Pro
11/7166 0.00077 4 non_synonymous Likely Benign
View 1 227152761 227152761 C > T COQ8A NM_020247.4:c.238C>T
NP_064632.2:p.His80Tyr
26/8745 0.00149 4 Common ExAC MAF original cat: TYPE_3 - non_synonymous Likely Benign
View 1 228345567 228345567 C > T GJC2 NM_020435.3:c.108C>T
NP_065168.2:p.Ile36=
61/8745 0.00354 4 Likely Benign
View 1 228346652 228346652 C > T GJC2 NM_020435.3:c.1193C>T
NP_065168.2:p.Thr398Ile
28/8745 0.00166 4 Likely Benign
View 1 231114945 231114945 T > C ARV1 NM_022786.1:c.94T>C
NP_073623.1:p.Tyr32His
34/6955 0.00244 4 Common ExAC MAF original cat: TYPE_3 - non_synonymous Likely Benign
View 1 231830012 231830012 C > T DISC1 DISC1 DISC1 DISC1 DISC1 DISC1 DISC1 DISC1 DISC1 TSNAX-DISC1 DISC1 DISC1 DISC1 DISC1 DISC1 DISC1 DISC1 DISC1 DISC1 DISC1 DISC1 DISC1 DISC1 DISC1 TSNAX-DISC1 TSNAX-DISC1 TSNAX-DISC1 TSNAX-DISC1 TSNAX-DISC1 TSNAX-DISC1 TSNAX-DISC1 NM_001164540.1:c.508C>T
NM_001164541.1:c.508C>T
NM_001164544.1:c.508C>T
NM_001164545.1:c.508C>T
NM_001164542.1:c.508C>T
NM_001164548.1:c.508C>T
NM_001164549.1:c.508C>T
NM_001164546.1:c.508C>T
NM_001164547.1:c.508C>T
NR_028400.1:n.1336C>T
NM_001164539.1:c.508C>T
NM_001012957.1:c.508C>T
NM_001012958.1:c.508C>T
NM_001012959.1:c.508C>T
NM_001164551.1:c.508C>T
NM_001164552.1:c.508C>T
NM_001164550.1:c.508C>T
NM_001164555.1:c.508C>T
NM_001164556.1:c.68-55660C>T
NM_018662.2:c.508C>T
NM_001164553.1:c.508C>T
NM_001164554.1:c.508C>T
NM_001164538.1:c.508C>T
NM_001164537.1:c.508C>T
NR_028394.1:n.1357C>T
NR_028395.1:n.1357C>T
NR_028393.1:n.1229C>T
NR_028398.1:n.848C>T
NR_028399.1:n.1464C>T
NR_028396.1:n.1229C>T
NR_028397.1:n.1094C>T
NP_001158012.1:p.Arg170Cys
NP_001158013.1:p.Arg170Cys
NP_001158016.1:p.Arg170Cys
NP_001158017.1:p.Arg170Cys
NP_001158014.1:p.Arg170Cys
NP_001158020.1:p.Arg170Cys
NP_001158021.1:p.Arg170Cys
NP_001158018.1:p.Arg170Cys
NP_001158019.1:p.Arg170Cys
NP_001158011.1:p.Arg170Cys
NP_001012975.1:p.Arg170Cys
NP_001012976.1:p.Arg170Cys
NP_001012977.1:p.Arg170Cys
NP_001158023.1:p.Arg170Cys
NP_001158024.1:p.Arg170Cys
NP_001158022.1:p.Arg170Cys
NP_001158027.1:p.Arg170Cys
NP_061132.2:p.Arg170Cys
NP_001158025.1:p.Arg170Cys
NP_001158026.1:p.Arg170Cys
NP_001158010.1:p.Arg170Cys
NP_001158009.1:p.Arg170Cys
19/6955 0.00144 4 non_synonymous Likely Benign
View 1 231902975 231902975 C > T DISC1 DISC1 DISC1 DISC1 DISC1 DISC1 DISC1 DISC1 DISC1 DISC1 DISC1 DISC1 DISC1 DISC1 DISC1 TSNAX-DISC1 TSNAX-DISC1 TSNAX-DISC1 TSNAX-DISC1 TSNAX-DISC1 TSNAX-DISC1 DISC1 NM_001012959.1:c.1358C>T
NM_001164540.1:c.1268+17153C>T
NM_001164541.1:c.1358C>T
NM_001164544.1:c.1358C>T
NM_001164545.1:c.1358C>T
NM_001164556.1:c.308C>T
NM_018662.2:c.1358C>T
NM_001164542.1:c.1358C>T
NM_001164548.1:c.1358C>T
NM_001164549.1:c.1358C>T
NM_001164538.1:c.1358C>T
NM_001164546.1:c.1358C>T
NM_001164537.1:c.1454C>T
NM_001164547.1:c.1358C>T
NM_001164539.1:c.1358C>T
NR_028394.1:n.2207C>T
NR_028395.1:n.2207C>T
NR_028393.1:n.2079C>T
NR_028398.1:n.1698C>T
NR_028396.1:n.2079C>T
NR_028397.1:n.1944C>T
NM_001012957.1:c.1358C>T
NP_001012977.1:p.Thr453Met
NP_001158013.1:p.Thr453Met
NP_001158016.1:p.Thr453Met
NP_001158017.1:p.Thr453Met
NP_001158028.1:p.Thr103Met
NP_061132.2:p.Thr453Met
NP_001158014.1:p.Thr453Met
NP_001158020.1:p.Thr453Met
NP_001158021.1:p.Thr453Met
NP_001158010.1:p.Thr453Met
NP_001158018.1:p.Thr453Met
NP_001158009.1:p.Thr485Met
NP_001158019.1:p.Thr453Met
NP_001158011.1:p.Thr453Met
NP_001012975.1:p.Thr453Met
30/6955 0.00216 4 non_synonymous Likely Benign
View 1 235543481 235543498 TGTGTGTGTGTGTGTGTG > - TBCE TBCE NM_001079515.1:c.100+48_100+65del
NM_003193.3:c.100+48_100+65del
189/8706 0.0112 4 five_prime_intronic Likely Benign
View 1 235600671 235600671 G > C TBCE TBCE NM_001079515.1:c.998G>C
NM_003193.3:c.998G>C
NP_001072983.1:p.Ser333Thr
NP_003184.1:p.Ser333Thr
53/8745 0.00309 4 Common ExAC MAF original cat: TYPE_3 - non_synonymous Likely Benign
View 1 235840495 235840495 G > T LYST NM_000081.3:c.10941-7C>A
147/8745 0.00846 4 polypyrimidine_tract Likely Benign
View 1 235938329 235938329 A > C LYST NM_000081.3:c.5518T>G
NP_000072.2:p.Ser1840Ala
95/8745 0.00549 4 non_synonymous Likely Benign
View 1 236889330 236889330 C > T ACTN2 ACTN2 ACTN2 ENST00000542672.1:c.536+10C>T
NM_001278344.1:c.-286+10C>T
ENST00000366578.4:c.536+10C>T
16/6955 0.00115 4 five_prime_intronic Likely Benign
View 1 237730059 237730059 C > T RYR2 NM_001035.2:c.3407C>T
NP_001026.2:p.Ala1136Val
125/7144 0.00875 4 Likely Benign
View 1 237794847 237794847 G > A RYR2 NM_001035.2:c.6555+6G>A
10/6955 0.00072 4 five_prime_flank Likely Benign
View 1 237893673 237893673 G > T RYR2 NM_001035.2:c.10935+17G>T
7/6916 0.00051 4 five_prime_intronic Likely Benign
View 1 237961484 237961484 C > T RYR2 NM_001035.2:c.14090+14C>T
1/6916 7.0e-05 4 five_prime_intronic Likely Benign
View 1 240256066 240256067 - > CAG FMN2 NM_020066.4:c.674_676dupAGC
NP_064450.3:p.Gln225dup
17/6955 0.00122 4 in_frame_indel Likely Benign
View 1 240256761 240256761 T > A FMN2 NM_020066.4:c.1352T>A
NP_064450.3:p.Leu451Gln
9/6955 0.00065 4 non_synonymous Likely Benign
View 1 240370769 240370769 T > G FMN2 NM_020066.4:c.2657T>G
NP_064450.3:p.Met886Arg
78/6955 0.00568 4 Common ExAC MAF original cat: TYPE_3 - non_synonymous Likely Benign
View 1 240370942 240370974 del > - FMN2 NM_020066.4:c.2830_2862del
NP_064450.3:p.Ala952_Ala194del
32/6955 0.0023 4 in_frame_indel Likely Benign
View 1 240370967 240370967 C > G FMN2 NM_020066.4:c.2855C>G
NP_064450.3:p.Ala952Gly
74/6955 0.00539 4 non_synonymous Likely Benign
View 1 241682970 241682970 G > A FH NM_000143.3:c.53C>T
NP_000134.2:p.Pro18Leu
27/8745 0.00154 4 non_synonymous Likely Benign
View 1 243493867 243493867 G > A SDCCAG8 NM_006642.3:c.1094G>A
NP_006633.1:p.Arg365Lys
7/6955 0.0005 3 non_synonymous Likely Benign
View 1 245021294 245021294 A > - HNRNPU HNRNPU NM_031844.2:c.1494+21del
NM_004501.3:c.1437+21del
132/6918 0.00983 4 five_prime_intronic Likely Benign
View 1 247586658 247586658 G > A NLRP3 NLRP3 NLRP3 NLRP3 NLRP3 ENST00000366497.2:c.403+7G>A
ENST00000391827.2:c.403+7G>A
ENST00000336119.3:c.403+7G>A
ENST00000391828.3:c.403+7G>A
ENST00000348069.2:c.403+7G>A
18/6955 0.00129 4 Common ExAC MAF original cat: TYPE_3 - five_prime_intronic Likely Benign
View 1 247587343 247587343 G > A NLRP3 NLRP3 NLRP3 NLRP3 NLRP3 ENST00000366497.2:c.598G>A
ENST00000391827.2:c.598G>A
ENST00000336119.3:c.598G>A
ENST00000391828.3:c.598G>A
ENST00000348069.2:c.598G>A
ENSP00000355453.2:p.Val200Met
ENSP00000375703.2:p.Val200Met
ENSP00000337383.3:p.Val200Met
ENSP00000375704.3:p.Val200Met
ENSP00000294752.3:p.Val200Met
106/6955 0.00762 4 Likely Benign
View 10 12123525 12123525 C > G DHTKD1 ENST00000263035.4:c.209C>G
ENSP00000263035.4:p.Ala70Gly
88/6955 0.0064 4 non_synonymous Likely Benign
View 10 12129639 12129639 G > T DHTKD1 ENST00000263035.4:c.628G>T
ENSP00000263035.4:p.Ala210Ser
54/6955 0.00388 4 non_synonymous Likely Benign
View 10 12139874 12139874 C > T DHTKD1 ENST00000263035.4:c.1550C>T
ENSP00000263035.4:p.Ala517Val
28/6955 0.00201 4 Common ExAC MAF original cat: TYPE_3 - non_synonymous Likely Benign
View 10 13325784 13325784 C > T PHYH PHYH NM_001037537.1:c.434G>A
NM_006214.3:c.734G>A
NP_001032626.1:p.Arg145Gln
NP_006205.1:p.Arg245Gln
104/6955 0.00762 4 Likely Benign
View 10 14968855 14968855 G > C DCLRE1C DCLRE1C DCLRE1C DCLRE1C NM_022487.2:c.614C>G
NM_001033855.1:c.959C>G
NM_001033857.1:c.599C>G
NM_001033858.1:c.599C>G
NP_071932.2:p.Ser205Cys
NP_001029027.1:p.Ser320Cys
NP_001029029.1:p.Ser200Cys
NP_001029030.1:p.Ser200Cys
73/8745 0.00429 4 Likely Benign
View 10 14977469 14977469 C > T DCLRE1C DCLRE1C DCLRE1C DCLRE1C NM_022487.2:c.112G>A
NM_001033855.1:c.457G>A
NM_001033857.1:c.97G>A
NM_001033858.1:c.97G>A
NP_071932.2:p.Gly38Arg
NP_001029027.1:p.Gly153Arg
NP_001029029.1:p.Gly33Arg
NP_001029030.1:p.Gly33Arg
209/8745 0.01212 4 Likely Benign
Displaying 150 through 200 of 2,465 variants