Download: Excel

Chr Start Stop Change Gene(s) HGVS_C HGVS_P Sample Count CMH MAF ACMG Cat. ACMG Note Curation
View 1 201046164 201046164 C > T CACNA1S NM_000069.2:c.1711G>A
NP_000060.2:p.Val571Ile
11/6402 0.00086 3 non_synonymous Likely Benign
View 1 201058391 201058391 A > G CACNA1S NM_000069.2:c.895T>C
NP_000060.2:p.Tyr299His
38/6402 0.00305 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
2/6402 0.00016 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
40/6175 0.00543 4 five_prime_intronic Likely Benign
View 1 204378654 204378654 G > C PPP1R15B NM_032833.3:c.1886C>G
NP_116222.3:p.Ser629Cys
21/6213 0.00169 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
107/6174 0.00875 4 polypyrimidine_tract Likely Benign
View 1 211652382 211652382 T > A RD3 RD3 NM_183059.2:c.584A>T
NM_001164688.1:c.584A>T
NP_898882.1:p.Asp195Val
NP_001158160.1:p.Asp195Val
115/6213 0.00934 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
56/6213 0.00451 4 Likely Benign
View 1 220101127 220101127 T > C SLC30A10 SLC30A10 NM_018713.2:c.640+16A>G
NR_046437.1:n.851+16A>G
56/6174 0.00478 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
15/8004 0.00094 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
9/6435 0.0007 4 non_synonymous Likely Benign
View 1 227152761 227152761 C > T COQ8A NM_020247.4:c.238C>T
NP_064632.2:p.His80Tyr
24/8004 0.0015 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=
48/8004 0.00306 4 Likely Benign
View 1 228346652 228346652 C > T GJC2 NM_020435.3:c.1193C>T
NP_065168.2:p.Thr398Ile
28/8004 0.00181 4 Likely Benign
View 1 231114945 231114945 T > C ARV1 NM_022786.1:c.94T>C
NP_073623.1:p.Tyr32His
29/6213 0.00233 4 Common ExAC MAF original cat: TYPE_3 - non_synonymous Likely Benign
View 1 231830012 231830012 C > T TSNAX-DISC1 DISC1 DISC1 DISC1 DISC1 DISC1 DISC1 DISC1 DISC1 TSNAX-DISC1 DISC1 DISC1 TSNAX-DISC1 DISC1 TSNAX-DISC1 DISC1 DISC1 DISC1 TSNAX-DISC1 DISC1 DISC1 TSNAX-DISC1 DISC1 DISC1 DISC1 DISC1 DISC1 TSNAX-DISC1 TSNAX-DISC1 DISC1 DISC1 NR_028398.1:n.848C>T
NM_001164555.1:c.508C>T
NM_001164549.1:c.508C>T
NM_001164556.1:c.68-55660C>T
NM_001164552.1:c.508C>T
NM_001164548.1:c.508C>T
NM_001164546.1:c.508C>T
NM_001164541.1:c.508C>T
NM_001164550.1:c.508C>T
NR_028399.1:n.1464C>T
NM_018662.2:c.508C>T
NM_001164538.1:c.508C>T
NR_028394.1:n.1357C>T
NM_001164551.1:c.508C>T
NR_028393.1:n.1229C>T
NM_001012958.1:c.508C>T
NM_001012957.1:c.508C>T
NM_001164547.1:c.508C>T
NR_028400.1:n.1336C>T
NM_001164542.1:c.508C>T
NM_001164537.1:c.508C>T
NR_028395.1:n.1357C>T
NM_001164540.1:c.508C>T
NM_001164539.1:c.508C>T
NM_001164545.1:c.508C>T
NM_001164554.1:c.508C>T
NM_001012959.1:c.508C>T
NR_028397.1:n.1094C>T
NR_028396.1:n.1229C>T
NM_001164544.1:c.508C>T
NM_001164553.1:c.508C>T
NP_001158027.1:p.Arg170Cys
NP_001158021.1:p.Arg170Cys
NP_001158024.1:p.Arg170Cys
NP_001158020.1:p.Arg170Cys
NP_001158018.1:p.Arg170Cys
NP_001158013.1:p.Arg170Cys
NP_001158022.1:p.Arg170Cys
NP_061132.2:p.Arg170Cys
NP_001158010.1:p.Arg170Cys
NP_001158023.1:p.Arg170Cys
NP_001012976.1:p.Arg170Cys
NP_001012975.1:p.Arg170Cys
NP_001158019.1:p.Arg170Cys
NP_001158014.1:p.Arg170Cys
NP_001158009.1:p.Arg170Cys
NP_001158012.1:p.Arg170Cys
NP_001158011.1:p.Arg170Cys
NP_001158017.1:p.Arg170Cys
NP_001158026.1:p.Arg170Cys
NP_001012977.1:p.Arg170Cys
NP_001158016.1:p.Arg170Cys
NP_001158025.1:p.Arg170Cys
18/6213 0.00153 4 non_synonymous Likely Benign
View 1 231902975 231902975 C > T TSNAX-DISC1 DISC1 DISC1 DISC1 DISC1 DISC1 TSNAX-DISC1 DISC1 DISC1 DISC1 DISC1 DISC1 DISC1 DISC1 TSNAX-DISC1 TSNAX-DISC1 DISC1 TSNAX-DISC1 DISC1 DISC1 TSNAX-DISC1 DISC1 NR_028398.1:n.1698C>T
NM_001164542.1:c.1358C>T
NM_001164549.1:c.1358C>T
NM_001164537.1:c.1454C>T
NM_001164556.1:c.308C>T
NM_001164548.1:c.1358C>T
NR_028395.1:n.2207C>T
NM_001164540.1:c.1268+17153C>T
NM_001164546.1:c.1358C>T
NM_001164539.1:c.1358C>T
NM_001164541.1:c.1358C>T
NM_018662.2:c.1358C>T
NM_001164545.1:c.1358C>T
NM_001164538.1:c.1358C>T
NR_028394.1:n.2207C>T
NR_028393.1:n.2079C>T
NM_001012959.1:c.1358C>T
NR_028397.1:n.1944C>T
NM_001012957.1:c.1358C>T
NM_001164547.1:c.1358C>T
NR_028396.1:n.2079C>T
NM_001164544.1:c.1358C>T
NP_001158014.1:p.Thr453Met
NP_001158021.1:p.Thr453Met
NP_001158009.1:p.Thr485Met
NP_001158028.1:p.Thr103Met
NP_001158020.1:p.Thr453Met
NP_001158018.1:p.Thr453Met
NP_001158011.1:p.Thr453Met
NP_001158013.1:p.Thr453Met
NP_061132.2:p.Thr453Met
NP_001158017.1:p.Thr453Met
NP_001158010.1:p.Thr453Met
NP_001012977.1:p.Thr453Met
NP_001012975.1:p.Thr453Met
NP_001158019.1:p.Thr453Met
NP_001158016.1:p.Thr453Met
28/6213 0.00225 4 non_synonymous Likely Benign
View 1 235543481 235543498 TGTGTGTGTGTGTGTGTG > - TBCE TBCE NM_003193.3:c.100+48_100+65del
NM_001079515.1:c.100+48_100+65del
145/7965 0.00917 4 five_prime_intronic Likely Benign
View 1 235600671 235600671 G > C TBCE TBCE NM_003193.3:c.998G>C
NM_001079515.1:c.998G>C
NP_003184.1:p.Ser333Thr
NP_001072983.1:p.Ser333Thr
45/8004 0.00287 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
135/8004 0.0085 4 polypyrimidine_tract Likely Benign
View 1 235938329 235938329 A > C LYST NM_000081.3:c.5518T>G
NP_000072.2:p.Ser1840Ala
89/8004 0.00562 4 non_synonymous Likely Benign
View 1 237730059 237730059 C > T RYR2 NM_001035.2:c.3407C>T
NP_001026.2:p.Ala1136Val
112/6402 0.00875 4 Likely Benign
View 1 237794847 237794847 G > A RYR2 NM_001035.2:c.6555+6G>A
9/6213 0.00072 4 five_prime_flank Likely Benign
View 1 240256761 240256761 T > A FMN2 NM_020066.4:c.1352T>A
NP_064450.3:p.Leu451Gln
8/6213 0.00064 4 non_synonymous Likely Benign
View 1 240370769 240370769 T > G FMN2 NM_020066.4:c.2657T>G
NP_064450.3:p.Met886Arg
75/6213 0.00612 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
27/6213 0.00217 4 in_frame_indel Likely Benign
View 1 240370967 240370967 C > G FMN2 NM_020066.4:c.2855C>G
NP_064450.3:p.Ala952Gly
60/6213 0.00491 4 non_synonymous Likely Benign
View 1 243493867 243493867 G > A SDCCAG8 NM_006642.3:c.1094G>A
NP_006633.1:p.Arg365Lys
6/6213 0.00048 3 non_synonymous Likely Benign
View 1 247586658 247586658 G > A NLRP3 NLRP3 NLRP3 NLRP3 NLRP3 ENST00000391827.2:c.403+7G>A
ENST00000366497.2:c.403+7G>A
ENST00000348069.2:c.403+7G>A
ENST00000391828.3:c.403+7G>A
ENST00000336119.3:c.403+7G>A
18/6213 0.00145 4 Common ExAC MAF original cat: TYPE_3 - five_prime_intronic Likely Benign
View 1 247587343 247587343 G > A NLRP3 NLRP3 NLRP3 NLRP3 NLRP3 ENST00000391827.2:c.598G>A
ENST00000366497.2:c.598G>A
ENST00000348069.2:c.598G>A
ENST00000391828.3:c.598G>A
ENST00000336119.3:c.598G>A
ENSP00000375703.2:p.Val200Met
ENSP00000355453.2:p.Val200Met
ENSP00000294752.3:p.Val200Met
ENSP00000375704.3:p.Val200Met
ENSP00000337383.3:p.Val200Met
98/6213 0.00789 4 Likely Benign
View 10 12123525 12123525 C > G DHTKD1 ENST00000263035.4:c.209C>G
ENSP00000263035.4:p.Ala70Gly
82/6213 0.00668 4 non_synonymous Likely Benign
View 10 12129639 12129639 G > T DHTKD1 ENST00000263035.4:c.628G>T
ENSP00000263035.4:p.Ala210Ser
45/6213 0.00362 4 non_synonymous Likely Benign
View 10 12139874 12139874 C > T DHTKD1 ENST00000263035.4:c.1550C>T
ENSP00000263035.4:p.Ala517Val
28/6213 0.00225 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
95/6213 0.00781 4 Likely Benign
View 10 14968855 14968855 G > C DCLRE1C DCLRE1C DCLRE1C DCLRE1C NM_001033858.1:c.599C>G
NM_001033857.1:c.599C>G
NM_001033855.1:c.959C>G
NM_022487.2:c.614C>G
NP_001029030.1:p.Ser200Cys
NP_001029029.1:p.Ser200Cys
NP_001029027.1:p.Ser320Cys
NP_071932.2:p.Ser205Cys
63/8004 0.00406 4 Likely Benign
View 10 14977469 14977469 C > T DCLRE1C DCLRE1C DCLRE1C DCLRE1C NM_001033858.1:c.97G>A
NM_001033857.1:c.97G>A
NM_001033855.1:c.457G>A
NM_022487.2:c.112G>A
NP_001029030.1:p.Gly33Arg
NP_001029029.1:p.Gly33Arg
NP_001029027.1:p.Gly153Arg
NP_071932.2:p.Gly38Arg
192/8004 0.01218 4 Likely Benign
View 10 16932454 16932454 C > T CUBN NM_001081.3:c.8671G>A
NP_001072.2:p.Val2891Ile
9/6213 0.00072 4 non_synonymous Likely Benign
View 10 17085903 17085903 C > G CUBN NM_001081.3:c.3752G>C
NP_001072.2:p.Ser1251Thr
22/6213 0.00177 4 non_synonymous Likely Benign
View 10 18828181 18828181 C > T CACNB2 CACNB2 CACNB2 CACNB2 CACNB2 CACNB2 CACNB2 CACNB2 CACNB2 NM_201572.3:c.1355C>T
NM_201570.2:c.1367C>T
NM_201593.2:c.1397C>T
NM_201571.3:c.1427C>T
NM_201596.2:c.1511C>T
NM_201597.2:c.1439C>T
NM_001167945.1:c.1313C>T
NM_000724.3:c.1346C>T
NM_201590.2:c.1349C>T
NP_963866.2:p.Thr452Ile
NP_963864.1:p.Thr456Ile
NP_963887.2:p.Thr466Ile
NP_963865.2:p.Thr476Ile
NP_963890.2:p.Thr504Ile
NP_963891.1:p.Thr480Ile
NP_001161417.1:p.Thr438Ile
NP_000715.2:p.Thr449Ile
NP_963884.2:p.Thr450Ile
39/6402 0.00305 4 Likely Benign
View 10 26482160 26482160 A > G MYO3A NM_017433.4:c.4465A>G
NP_059129.3:p.Ile1489Val
65/6213 0.00523 4 Common ExAC MAF original cat: TYPE_3 - non_synonymous Likely Benign
View 10 28822982 28822982 G > T WAC WAC WAC NR_024557.2:n.552+19G>T
NM_100486.3:c.78+19G>T
NM_016628.4:c.78+19G>T
70/6174 0.00575 4 five_prime_intronic Likely Benign
View 10 43596033 43596033 G > A RET RET ENST00000340058.5:c.200G>A
ENST00000355710.3:c.200G>A
ENSP00000344798.4:p.Arg67His
ENSP00000347942.3:p.Arg67His
9/6213 0.00072 4 Likely Benign
View 10 50667229 50667229 C > T ERCC6 NM_000124.3:c.4114G>A
NP_000115.1:p.Gly1372Arg
17/8004 0.00106 4 non_synonymous Likely Benign
View 10 50669459 50669459 C > G ERCC6 NM_000124.3:c.3922G>C
NP_000115.1:p.Val1308Leu
33/8004 0.00206 4 Common ExAC MAF original cat: TYPE_3 - non_synonymous Likely Benign
View 10 50678347 50678347 G > A ERCC6 NM_000124.3:c.3659C>T
NP_000115.1:p.Thr1220Ile
35/8004 0.00219 4 Common ExAC MAF original cat: TYPE_3 - non_synonymous Likely Benign
View 10 50678722 50678722 G > C ERCC6 NM_000124.3:c.3284C>G
NP_000115.1:p.Pro1095Arg
61/8004 0.00406 5 Likely Benign
View 10 50680471 50680471 C > A ERCC6 NM_000124.3:c.2875G>T
NP_000115.1:p.Val959Leu
21/8004 0.00131 4 non_synonymous Likely Benign
View 10 50732139 50732139 C > T ERCC6-PGBD3 ERCC6-PGBD3 PGBD3 ERCC6 NM_001277059.1:c.1337G>A
NM_001277058.1:c.1337G>A
NM_170753.3:c.-68G>A
NM_000124.3:c.1337G>A
NP_001263988.1:p.Gly446Asp
NP_001263987.1:p.Gly446Asp
NP_000115.1:p.Gly446Asp
172/8004 0.01112 4 Common ExAC MAF original cat: TYPE_3 - non_synonymous Likely Benign
View 10 50833662 50833662 C > T CHAT CHAT CHAT CHAT CHAT ENST00000339797.1:c.542C>T
ENST00000395562.2:c.650C>T
ENST00000395559.2:c.542C>T
ENST00000337653.2:c.896C>T
ENST00000351556.3:c.542C>T
ENSP00000343486.1:p.Pro181Leu
ENSP00000378929.2:p.Pro217Leu
ENSP00000378926.2:p.Pro181Leu
ENSP00000337103.2:p.Pro299Leu
ENSP00000345878.3:p.Pro181Leu
14/6213 0.00113 4 non_synonymous Likely Benign
View 10 50863188 50863188 G > A CHAT CHAT CHAT CHAT CHAT ENST00000339797.1:c.1328G>A
ENST00000395562.2:c.1436G>A
ENST00000395559.2:c.1328G>A
ENST00000337653.2:c.1682G>A
ENST00000351556.3:c.1328G>A
ENSP00000343486.1:p.Arg443Gln
ENSP00000378929.2:p.Arg479Gln
ENSP00000378926.2:p.Arg443Gln
ENSP00000337103.2:p.Arg561Gln
ENSP00000345878.3:p.Arg443Gln
131/6213 0.01054 4 non_synonymous Likely Benign
Displaying 150 through 200 of 2,310 variants