Download: Excel

Chr Start Stop Change Gene(s) HGVS_C HGVS_P Sample Count CMH MAF ACMG Cat. ACMG Note Curation
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
40/9594 0.00208 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
307/11383 0.0141 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
72/11422 0.0032 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
179/11422 0.00788 4 polypyrimidine_tract Likely Benign
View 1 235938329 235938329 A > C LYST NM_000081.3:c.5518T>G
NP_000072.2:p.Ser1840Ala
131/11422 0.00578 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
29/9594 0.00151 4 five_prime_intronic Likely Benign
View 1 237730059 237730059 C > T RYR2 NM_001035.2:c.3407C>T
NP_001026.2:p.Ala1136Val
188/9783 0.00961 4 Likely Benign
View 1 237794847 237794847 G > A RYR2 NM_001035.2:c.6555+6G>A
11/9594 0.00057 4 five_prime_flank Likely Benign
View 1 237893673 237893673 G > T RYR2 NM_001035.2:c.10935+17G>T
8/9555 0.00042 4 five_prime_intronic Likely Benign
View 1 237961484 237961484 C > T RYR2 NM_001035.2:c.14090+14C>T
3/9555 0.00016 4 five_prime_intronic Likely Benign
View 1 240256066 240256067 - > CAG FMN2 NM_020066.4:c.674_676dupAGC
NP_064450.3:p.Gln225dup
29/9594 0.00156 4 in_frame_indel Likely Benign
View 1 240256761 240256761 T > A FMN2 NM_020066.4:c.1352T>A
NP_064450.3:p.Leu451Gln
26/9594 0.00141 4 non_synonymous Likely Benign
View 1 240370769 240370769 T > G FMN2 NM_020066.4:c.2657T>G
NP_064450.3:p.Met886Arg
106/9594 0.00558 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
47/9594 0.00245 4 in_frame_indel Likely Benign
View 1 240370967 240370967 C > G FMN2 NM_020066.4:c.2855C>G
NP_064450.3:p.Ala952Gly
169/9594 0.00902 4 non_synonymous Likely Benign
View 1 241682970 241682970 G > A FH NM_000143.3:c.53C>T
NP_000134.2:p.Pro18Leu
34/11422 0.00149 4 non_synonymous Likely Benign
View 1 243493867 243493867 G > A SDCCAG8 NM_006642.3:c.1094G>A
NP_006633.1:p.Arg365Lys
9/9594 0.00047 3 non_synonymous Likely Benign
View 1 245021294 245021294 A > - HNRNPU HNRNPU NM_031844.2:c.1494+21del
NM_004501.3:c.1437+21del
211/9557 0.01167 4 five_prime_intronic Likely Benign
View 1 247586487 247586487 T > C NLRP3 NLRP3 NLRP3 NLRP3 NLRP3 ENST00000366497.2:c.284-45T>C
ENST00000391827.2:c.284-45T>C
ENST00000336119.3:c.284-45T>C
ENST00000391828.3:c.284-45T>C
ENST00000348069.2:c.284-45T>C
179/9557 0.00963 4 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
23/9594 0.0012 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
141/9594 0.00735 4 Likely Benign
View 10 255810 255810 G > A ZMYND11 ZMYND11 ZMYND11 ZMYND11 ZMYND11 ZMYND11 ZMYND11 NM_001202468.1:c.117-19G>A
NM_001202467.1:c.117-19G>A
NM_001202466.1:c.117-19G>A
NM_001202465.1:c.117-19G>A
NM_001202464.1:c.117-19G>A
NM_212479.3:c.117-19G>A
NM_006624.5:c.117-19G>A
20/9555 0.00105 4 three_prime_flank Likely Benign
View 10 294522 294522 C > T ZMYND11 ZMYND11 ZMYND11 ZMYND11 ZMYND11 ZMYND11 ZMYND11 NM_001202468.1:c.1474C>T
NM_001202467.1:c.1312C>T
NM_001202466.1:c.1309C>T
NM_001202465.1:c.1219C>T
NM_001202464.1:c.1312C>T
NM_212479.3:c.1471C>T
NM_006624.5:c.1474C>T
NP_001189397.1:p.Arg492Cys
NP_001189396.1:p.Arg438Cys
NP_001189395.1:p.Arg437Cys
NP_001189394.1:p.Arg407Cys
NP_001189393.1:p.Arg438Cys
NP_997644.2:p.Arg491Cys
NP_006615.2:p.Arg492Cys
1/9594 5.0e-05 3 non_synonymous Likely Benign
View 10 12123525 12123525 C > G DHTKD1 ENST00000263035.4:c.209C>G
ENSP00000263035.4:p.Ala70Gly
130/9594 0.00683 4 non_synonymous Likely Benign
View 10 12129639 12129639 G > T DHTKD1 ENST00000263035.4:c.628G>T
ENSP00000263035.4:p.Ala210Ser
72/9594 0.00375 4 non_synonymous Likely Benign
View 10 12139874 12139874 C > T DHTKD1 ENST00000263035.4:c.1550C>T
ENSP00000263035.4:p.Ala517Val
42/9594 0.00219 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
132/9594 0.00698 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
82/11422 0.00368 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
258/11422 0.01151 4 Likely Benign
View 10 16932454 16932454 C > T CUBN NM_001081.3:c.8671G>A
NP_001072.2:p.Val2891Ile
14/9594 0.00073 4 non_synonymous Likely Benign
View 10 17085903 17085903 C > G CUBN NM_001081.3:c.3752G>C
NP_001072.2:p.Ser1251Thr
44/9594 0.00229 4 non_synonymous Likely Benign
View 10 18439808 18439809 - > TTTG CACNB2 CACNB2 CACNB2 CACNB2 CACNB2 CACNB2 NM_201572.3:c.37-3_37-2insTTGT
NM_201596.2:c.121-3_121-2insTTGT
NM_201571.3:c.37-3_37-2insTTGT
NM_201593.2:c.121-3_121-2insTTGT
NM_001167945.1:c.37-3_37-2insTTGT
NM_201597.2:c.121-3_121-2insTTGT
53/9783 0.00281 3 polypyrimidine_tract Likely Benign
View 10 18828181 18828181 C > T CACNB2 CACNB2 CACNB2 CACNB2 CACNB2 CACNB2 CACNB2 CACNB2 CACNB2 NM_201572.3:c.1355C>T
NM_201596.2:c.1511C>T
NM_201571.3:c.1427C>T
NM_201593.2:c.1397C>T
NM_001167945.1:c.1313C>T
NM_201597.2:c.1439C>T
NM_000724.3:c.1346C>T
NM_201570.2:c.1367C>T
NM_201590.2:c.1349C>T
NP_963866.2:p.Thr452Ile
NP_963890.2:p.Thr504Ile
NP_963865.2:p.Thr476Ile
NP_963887.2:p.Thr466Ile
NP_001161417.1:p.Thr438Ile
NP_963891.1:p.Thr480Ile
NP_000715.2:p.Thr449Ile
NP_963864.1:p.Thr456Ile
NP_963884.2:p.Thr450Ile
63/9783 0.00322 4 Likely Benign
View 10 26482160 26482160 A > G MYO3A NM_017433.4:c.4465A>G
NP_059129.3:p.Ile1489Val
97/9594 0.00506 4 Common ExAC MAF original cat: TYPE_3 - non_synonymous Likely Benign
View 10 28822982 28822982 G > T WAC WAC WAC NM_016628.4:c.78+19G>T
NM_100486.3:c.78+19G>T
NR_024557.2:n.552+19G>T
100/9555 0.00529 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
12/9594 0.00068 4 Likely Benign
View 10 50667229 50667229 C > T ERCC6 NM_000124.3:c.4114G>A
NP_000115.1:p.Gly1372Arg
25/11422 0.00109 4 non_synonymous Likely Benign
View 10 50669459 50669459 C > G ERCC6 NM_000124.3:c.3922G>C
NP_000115.1:p.Val1308Leu
59/11422 0.00263 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
60/11422 0.00263 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
96/11422 0.00442 5 Likely Benign
View 10 50680471 50680471 C > A ERCC6 NM_000124.3:c.2875G>T
NP_000115.1:p.Val959Leu
32/11422 0.0014 4 non_synonymous Likely Benign
View 10 50732139 50732139 C > T PGBD3 ERCC6-PGBD3 ERCC6-PGBD3 ERCC6 NM_170753.3:c.-68G>A
NM_001277059.1:c.1337G>A
NM_001277058.1:c.1337G>A
NM_000124.3:c.1337G>A
NP_001263988.1:p.Gly446Asp
NP_001263987.1:p.Gly446Asp
NP_000115.1:p.Gly446Asp
262/11422 0.01173 4 Common ExAC MAF original cat: TYPE_3 - non_synonymous Likely Benign
View 10 50833662 50833662 C > T CHAT CHAT CHAT CHAT CHAT ENST00000337653.2:c.896C>T
ENST00000351556.3:c.542C>T
ENST00000395559.2:c.542C>T
ENST00000339797.1:c.542C>T
ENST00000395562.2:c.650C>T
ENSP00000337103.2:p.Pro299Leu
ENSP00000345878.3:p.Pro181Leu
ENSP00000378926.2:p.Pro181Leu
ENSP00000343486.1:p.Pro181Leu
ENSP00000378929.2:p.Pro217Leu
19/9594 0.00099 4 non_synonymous Likely Benign
View 10 50863188 50863188 G > A CHAT CHAT CHAT CHAT CHAT ENST00000337653.2:c.1682G>A
ENST00000351556.3:c.1328G>A
ENST00000395559.2:c.1328G>A
ENST00000339797.1:c.1328G>A
ENST00000395562.2:c.1436G>A
ENSP00000337103.2:p.Arg561Gln
ENSP00000345878.3:p.Arg443Gln
ENSP00000378926.2:p.Arg443Gln
ENSP00000343486.1:p.Arg443Gln
ENSP00000378929.2:p.Arg479Gln
181/9594 0.00943 4 non_synonymous Likely Benign
View 10 53457664 53457678 TGTATACCTCCTCCT > - PRKG1 PRKG1 CSTF2T NM_001098512.2:c.548-106659_548-106645del
NM_006258.3:c.593-106659_593-106645del
NM_015235.2:c.1632_1646del
NP_056050.1:p.Gly546_Gly550del
26/9594 0.00136 4 in_frame_indel Likely Benign
View 10 55582636 55582636 T > C PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 NM_001142763.1:c.4871A>G
NM_001142773.1:c.4781A>G
NM_001142765.1:c.4643A>G
NM_001142764.1:c.4856A>G
NM_033056.3:c.4850A>G
NM_001142767.1:c.4730A>G
NM_001142766.1:c.4841A>G
NM_001142769.1:c.4409+2260A>G
NM_001142768.1:c.4790A>G
NM_001142770.1:c.4373+2260A>G
NM_001142772.1:c.4373+2260A>G
NM_001142771.1:c.4388+2260A>G
NP_001136235.1:p.Asn1624Ser
NP_001136245.1:p.Asn1594Ser
NP_001136237.1:p.Asn1548Ser
NP_001136236.1:p.Asn1619Ser
NP_149045.3:p.Asn1617Ser
NP_001136239.1:p.Asn1577Ser
NP_001136238.1:p.Asn1614Ser
NP_001136240.1:p.Asn1597Ser
133/9595 0.00698 4 non_synonymous Likely Benign
View 10 55591253 55591253 G > T PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 NM_001142763.1:c.4039C>A
NM_001142773.1:c.3958C>A
NM_001142765.1:c.3811C>A
NM_001142764.1:c.4024C>A
NM_033056.3:c.4024C>A
NM_001142767.1:c.3913C>A
NM_001142766.1:c.4024C>A
NM_001142769.1:c.4060C>A
NM_001142768.1:c.3958C>A
NM_001142770.1:c.4024C>A
NM_001142772.1:c.4024C>A
NM_001142771.1:c.4039C>A
NP_001136235.1:p.Gln1347Lys
NP_001136245.1:p.Gln1320Lys
NP_001136237.1:p.Gln1271Lys
NP_001136236.1:p.Gln1342Lys
NP_149045.3:p.Gln1342Lys
NP_001136239.1:p.Gln1305Lys
NP_001136238.1:p.Gln1342Lys
NP_001136241.1:p.Gln1354Lys
NP_001136240.1:p.Gln1320Lys
NP_001136242.1:p.Gln1342Lys
NP_001136244.1:p.Gln1342Lys
NP_001136243.1:p.Gln1347Lys
36/9594 0.00188 4 Likely Benign
View 10 55721636 55721636 C > T PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 NM_001142763.1:c.2900G>A
NM_001142773.1:c.2819G>A
NM_001142765.1:c.2672G>A
NM_001142764.1:c.2885G>A
NM_033056.3:c.2885G>A
NM_001142767.1:c.2774G>A
NM_001142766.1:c.2885G>A
NM_001142769.1:c.2921G>A
NM_001142768.1:c.2819G>A
NM_001142770.1:c.2885G>A
NM_001142772.1:c.2885G>A
NM_001142771.1:c.2900G>A
NP_001136235.1:p.Arg967His
NP_001136245.1:p.Arg940His
NP_001136237.1:p.Arg891His
NP_001136236.1:p.Arg962His
NP_149045.3:p.Arg962His
NP_001136239.1:p.Arg925His
NP_001136238.1:p.Arg962His
NP_001136241.1:p.Arg974His
NP_001136240.1:p.Arg940His
NP_001136242.1:p.Arg962His
NP_001136244.1:p.Arg962His
NP_001136243.1:p.Arg967His
19/9594 0.00099 4 non_synonymous Likely Benign
View 10 55782743 55782743 A > G PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 NM_001142763.1:c.2450T>C
NM_001142773.1:c.2369T>C
NM_001142765.1:c.2222T>C
NM_001142764.1:c.2435T>C
NM_033056.3:c.2435T>C
NM_001142767.1:c.2324T>C
NM_001142766.1:c.2435T>C
NM_001142769.1:c.2471T>C
NM_001142768.1:c.2369T>C
NM_001142770.1:c.2435T>C
NM_001142772.1:c.2435T>C
NM_001142771.1:c.2450T>C
NP_001136235.1:p.Ile817Thr
NP_001136245.1:p.Ile790Thr
NP_001136237.1:p.Ile741Thr
NP_001136236.1:p.Ile812Thr
NP_149045.3:p.Ile812Thr
NP_001136239.1:p.Ile775Thr
NP_001136238.1:p.Ile812Thr
NP_001136241.1:p.Ile824Thr
NP_001136240.1:p.Ile790Thr
NP_001136242.1:p.Ile812Thr
NP_001136244.1:p.Ile812Thr
NP_001136243.1:p.Ile817Thr
25/9594 0.0013 4 non_synonymous Likely Benign
View 10 56288130 56288130 T > A PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 NM_001142763.1:c.106+18A>T
NM_001142773.1:c.91+135802A>T
NM_001142765.1:c.92-493A>T
NM_001142764.1:c.92-493A>T
NM_033056.3:c.92-493A>T
NM_001142767.1:c.92-493A>T
NM_001142766.1:c.92-493A>T
NM_001142769.1:c.106+18A>T
NM_001142768.1:c.91+135802A>T
NM_001142770.1:c.92-493A>T
NM_001142772.1:c.92-493A>T
NM_001142771.1:c.106+18A>T
34/9556 0.00183 4 Common ExAC MAF original cat: TYPE_3 - five_prime_intronic Likely Benign
Displaying 200 through 250 of 2,802 variants