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Chr Start Stop Change Gene(s) HGVS_C HGVS_P Sample Count CMH MAF ACMG Cat. ACMG Note Curation
View 1 211652382 211652382 T > A RD3 NM_183059.2:c.584A>T
NM_001164688.1:c.584A>T
NP_898882.1:p.Asp195Val
NP_001158160.1:p.Asp195Val
93/5119 0.00918 4 Likely Benign
View 1 218607532 218607532 G > C TGFB2 NM_001135599.2:c.703G>C
NM_003238.3:c.619G>C
NP_001129071.1:p.Val235Leu
NP_003229.1:p.Val207Leu
51/5119 0.00498 4 Likely Benign
View 1 225592184 225592184 A > C LBR NM_002296.3:c.1609T>G
NM_194442.2:c.1609T>G
NP_002287.2:p.Ser537Ala
NP_919424.1:p.Ser537Ala
11/6913 0.0008 4 non_synonymous Likely Benign
View 1 227152761 227152761 C > T ADCK3 NM_020247.4:c.238C>T
NP_064632.2:p.His80Tyr
19/6913 0.00137 4 non_synonymous Likely Benign
View 1 228345567 228345567 C > T GJC2 NM_020435.3:c.108C>T
NM_020435.3:c.108C>T(p.%3D)
37/6913 0.00275 4 Likely Benign
View 1 228346652 228346652 C > T GJC2 NM_020435.3:c.1193C>T
NP_065168.2:p.Thr398Ile
26/6913 0.00195 4 Likely Benign
View 1 231114945 231114945 T > C ARV1 NM_022786.1:c.94T>C
NP_073623.1:p.Tyr32His
25/5119 0.00244 4 non_synonymous Likely Benign
View 1 235543481 235543498 TGTGTGTGTGTGTGTGTG > - TBCE NM_001079515.1:c.100+48_100+65del
NM_003193.3:c.100+48_100+65del
121/6895 0.00885 4 five_prime_intronic Likely Benign
View 1 235600671 235600671 G > C TBCE NM_003193.3:c.998G>C
NM_001079515.1:c.998G>C
NP_003184.1:p.Ser333Thr
NP_001072983.1:p.Ser333Thr
35/6913 0.0026 4 non_synonymous Likely Benign
View 1 235840495 235840495 G > T LYST NM_000081.3:c.10941-7C>A
123/6913 0.00897 4 polypyrimidine_tract Likely Benign
View 1 237730059 237730059 C > T RYR2 NM_001035.2:c.3407C>T
NP_001026.2:p.Ala1136Val
88/5308 0.00829 4 Likely Benign
View 1 240370769 240370769 T > G FMN2 NM_020066.4:c.2657T>G
NP_064450.3:p.Met886Arg
66/5119 0.00654 4 non_synonymous Likely Benign
View 1 240370942 240370974 del > - FMN2 NM_020066.4:c.2830_2862del
NP_064450.3:p.Ala952_Ala194del
17/5119 0.00166 4 in_frame_indel Likely Benign
View 1 240370967 240370967 C > G FMN2 NM_020066.4:c.2855C>G
NP_064450.3:p.Ala952Gly
41/5119 0.0041 4 non_synonymous Likely Benign
View 1 243493867 243493867 G > A SDCCAG8 NM_006642.3:c.1094G>A
NP_006633.1:p.Arg365Lys
5/5119 0.00049 3 non_synonymous Likely Benign
View 1 247587343 247587343 G > A NLRP3 ENST00000348069.2:c.598G>A
ENST00000336119.3:c.598G>A
ENST00000366497.2:c.598G>A
ENST00000391827.2:c.598G>A
ENST00000391828.3:c.598G>A
ENSP00000294752.3:p.Val200Met
ENSP00000337383.3:p.Val200Met
ENSP00000355453.2:p.Val200Met
ENSP00000375703.2:p.Val200Met
ENSP00000375704.3:p.Val200Met
78/5119 0.00762 4 Likely Benign
View 10 12139874 12139874 C > T DHTKD1 ENST00000263035.4:c.1550C>T
ENSP00000263035.4:p.Ala517Val
26/5119 0.00254 4 non_synonymous Likely Benign
View 10 14977469 14977469 C > T 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
153/6913 0.01128 4 Likely Benign
View 10 26482160 26482160 A > G MYO3A NM_017433.4:c.4465A>G
NP_059129.3:p.Ile1489Val
56/5119 0.00547 4 non_synonymous Likely Benign
View 10 43596033 43596033 G > A RET ENST00000355710.3:c.200G>A
ENST00000340058.5:c.200G>A
ENSP00000347942.3:p.Arg67His
ENSP00000344798.4:p.Arg67His
5/5119 0.00049 4 Likely Benign
View 10 50669459 50669459 C > G ERCC6 NM_000124.3:c.3922G>C
NP_000115.1:p.Val1308Leu
28/6913 0.00203 4 non_synonymous Likely Benign
View 10 50678347 50678347 G > A ERCC6 NM_000124.3:c.3659C>T
NP_000115.1:p.Thr1220Ile
30/6913 0.00217 4 non_synonymous Likely Benign
View 10 50678722 50678722 G > C ERCC6 NM_000124.3:c.3284C>G
NP_000115.1:p.Pro1095Arg
41/6913 0.00304 5 Likely Benign
View 10 50680471 50680471 C > A ERCC6 NM_000124.3:c.2875G>T
NP_000115.1:p.Val959Leu
14/6913 0.00101 4 non_synonymous Likely Benign
View 10 50732139 50732139 C > T 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
138/6913 0.01005 4 non_synonymous Likely Benign
View 10 50863188 50863188 G > A CHAT ENST00000395562.2:c.1436G>A
ENST00000339797.1:c.1328G>A
ENST00000351556.3:c.1328G>A
ENST00000395559.2:c.1328G>A
ENST00000337653.2:c.1682G>A
ENSP00000378929.2:p.Arg479Gln
ENSP00000343486.1:p.Arg443Gln
ENSP00000345878.3:p.Arg443Gln
ENSP00000378926.2:p.Arg443Gln
ENSP00000337103.2:p.Arg561Gln
99/5119 0.00967 4 non_synonymous Likely Benign
View 10 55582636 55582636 T > C PCDH15 NM_033056.3:c.4850A>G
NM_001142767.1:c.4730A>G
NM_001142770.1:c.4373+2260A>G
NM_001142764.1:c.4856A>G
NM_001142771.1:c.4388+2260A>G
NM_001142768.1:c.4790A>G
NM_001142763.1:c.4871A>G
NM_001142769.1:c.4409+2260A>G
NM_001142772.1:c.4373+2260A>G
NM_001142773.1:c.4781A>G
NM_001142765.1:c.4643A>G
NM_001142766.1:c.4841A>G
NP_149045.3:p.Asn1617Ser
NP_001136239.1:p.Asn1577Ser
NP_001136236.1:p.Asn1619Ser
NP_001136240.1:p.Asn1597Ser
NP_001136235.1:p.Asn1624Ser
NP_001136245.1:p.Asn1594Ser
NP_001136237.1:p.Asn1548Ser
NP_001136238.1:p.Asn1614Ser
72/5119 0.00703 4 non_synonymous Likely Benign
View 10 55591253 55591253 G > T PCDH15 NM_001142766.1:c.4024C>A
NM_001142765.1:c.3811C>A
NM_001142773.1:c.3958C>A
NM_001142772.1:c.4024C>A
NM_001142769.1:c.4060C>A
NM_001142767.1:c.3913C>A
NM_033056.3:c.4024C>A
NM_001142763.1:c.4039C>A
NM_001142771.1:c.4039C>A
NM_001142768.1:c.3958C>A
NM_001142764.1:c.4024C>A
NM_001142770.1:c.4024C>A
NP_001136238.1:p.Gln1342Lys
NP_001136237.1:p.Gln1271Lys
NP_001136245.1:p.Gln1320Lys
NP_001136244.1:p.Gln1342Lys
NP_001136241.1:p.Gln1354Lys
NP_001136239.1:p.Gln1305Lys
NP_149045.3:p.Gln1342Lys
NP_001136235.1:p.Gln1347Lys
NP_001136243.1:p.Gln1347Lys
NP_001136240.1:p.Gln1320Lys
NP_001136236.1:p.Gln1342Lys
NP_001136242.1:p.Gln1342Lys
17/5119 0.00166 4 Likely Benign
View 10 55782743 55782743 A > G PCDH15 NM_033056.3:c.2435T>C
NM_001142767.1:c.2324T>C
NM_001142770.1:c.2435T>C
NM_001142764.1:c.2435T>C
NM_001142771.1:c.2450T>C
NM_001142768.1:c.2369T>C
NM_001142763.1:c.2450T>C
NM_001142772.1:c.2435T>C
NM_001142769.1:c.2471T>C
NM_001142773.1:c.2369T>C
NM_001142765.1:c.2222T>C
NM_001142766.1:c.2435T>C
NP_149045.3:p.Ile812Thr
NP_001136239.1:p.Ile775Thr
NP_001136242.1:p.Ile812Thr
NP_001136236.1:p.Ile812Thr
NP_001136243.1:p.Ile817Thr
NP_001136240.1:p.Ile790Thr
NP_001136235.1:p.Ile817Thr
NP_001136244.1:p.Ile812Thr
NP_001136241.1:p.Ile824Thr
NP_001136245.1:p.Ile790Thr
NP_001136237.1:p.Ile741Thr
NP_001136238.1:p.Ile812Thr
15/5119 0.00147 4 non_synonymous Likely Benign
View 10 56288130 56288130 T > A PCDH15 NM_001142770.1:c.92-493A>T
NM_001142767.1:c.92-493A>T
NM_033056.3:c.92-493A>T
NM_001142764.1:c.92-493A>T
NM_001142771.1:c.106+18A>T
NM_001142768.1:c.91+135802A>T
NM_001142763.1:c.106+18A>T
NM_001142772.1:c.92-493A>T
NM_001142769.1:c.106+18A>T
NM_001142773.1:c.91+135802A>T
NM_001142765.1:c.92-493A>T
NM_001142766.1:c.92-493A>T
17/5102 0.00176 4 five_prime_intronic Likely Benign
View 10 61829686 61829686 T > G ANK3 NM_020987.3:c.10953A>C
NM_001204404.1:c.4409-1919A>C
NM_001204403.1:c.4388-1919A>C
NM_001149.3:c.1808-1919A>C
NP_066267.2:p.Lys3651Asn
31/5119 0.00303 4 non_synonymous Likely Benign
View 10 61833686 61833686 T > C ANK3 NM_001149.3:c.1808-5919A>G
NM_001204404.1:c.4409-5919A>G
NM_020987.3:c.6953A>G
NM_001204403.1:c.4388-5919A>G
NP_066267.2:p.Lys2318Arg
13/5119 0.00127 3 non_synonymous Likely Benign
View 10 61905727 61905727 T > C ANK3 NM_001204404.1:c.2616A>G
NM_001204403.1:c.2597-6882A>G
NM_020987.3:c.2615-6882A>G
NM_001204404.1:c.2616A>G(p.%3D)
57/5119 0.00567 4 five_prime_exonic Likely Benign
View 10 67862992 67862992 C > T CTNNA3 NM_013266.2:c.1900G>A
NM_001127384.1:c.1900G>A
NP_037398.2:p.Glu634Lys
NP_001120856.1:p.Glu634Lys
12/5119 0.00117 4 non_synonymous Likely Benign
View 10 69959320 69959320 C > A MYPN NR_045663.3:n.3610C>A
NR_045662.3:n.2908C>A
ENST00000540630.1:c.3481C>A
NM_001256268.1:c.2599C>A
ENST00000358913.5:c.3481C>A
ENSP00000441668.1:p.Leu1161Ile
NP_001243197.1:p.Leu867Ile
ENSP00000351790.5:p.Leu1161Ile
17/5119 0.00166 4 Likely Benign
View 10 70179634 70179634 G > T DNA2 NR_102264.1:n.2687C>A
NM_001080449.2:c.2713C>A
NP_001073918.2:p.Gln905Lys
73/5119 0.00742 4 non_synonymous Likely Benign
View 10 70181964 70181964 A > G DNA2 NR_102264.1:n.2671+18T>C
NM_001080449.2:c.2697+18T>C
7/5101 0.00078 4 five_prime_intronic Likely Benign
View 10 73562802 73562802 T > C CDH23 NM_022124.5:c.7630T>C
NM_001171934.1:c.910T>C
NM_001171933.1:c.910T>C
NM_022124.5:c.7630T>C(p.%3D)
NM_001171934.1:c.910T>C(p.%3D)
NM_001171933.1:c.910T>C(p.%3D)
44/6913 0.00318 4 Likely Benign
View 10 76074407 76074407 A > G ADK NM_001202450.1:c.195-18A>G
NM_001202449.1:c.90-18A>G
NM_006721.3:c.195-18A>G
NM_001123.3:c.144-18A>G
99/5102 0.0097 4 three_prime_flank Likely Benign
View 10 76741561 76741561 C > A KAT6B NM_001256469.1:c.1372C>A
NM_001256468.1:c.1699C>A
NM_012330.3:c.2248C>A
NP_001243398.1:p.Leu458Met
NP_001243397.1:p.Leu567Met
NP_036462.2:p.Leu750Met
3/5119 0.00029 4 non_synonymous Likely Benign
View 10 76788489 76788489 A > G KAT6B NM_001256468.1:c.3358A>G
NM_001256469.1:c.3031A>G
NM_012330.3:c.3907A>G
NP_001243397.1:p.Ser1120Gly
NP_001243398.1:p.Ser1011Gly
NP_036462.2:p.Ser1303Gly
2/5119 0.0002 4 non_synonymous Likely Benign
View 10 76788659 76788660 - > GAAGAGGAA KAT6B NM_001256469.1:c.3221_3229dupAAGAGGAAG
NM_001256468.1:c.3548_3556dupAAGAGGAAG
NM_012330.3:c.4097_4105dupAAGAGGAAG
NP_001243398.1:p.Glu1074_Glu1076dup
NP_001243397.1:p.Glu1183_Glu1185dup
NP_036462.2:p.Glu1366_Glu1368dup
66/5119 0.00674 4 in_frame_indel Likely Benign
View 10 79396215 79396215 G > T KCNMA1 NM_001271519.1:c.378+808C>A
NM_001271520.1:c.*286C>A
NM_001271518.1:c.378+808C>A
NM_001161352.1:c.378+808C>A
NM_001271521.1:c.*104C>A
NM_001014797.2:c.378+808C>A
NM_001161353.1:c.378+808C>A
NM_001271522.1:c.437C>A
NM_002247.3:c.378+808C>A
NP_001258451.1:p.Pro146Gln
21/5101 0.00206 4 non_synonymous Likely Benign
View 10 79397246 79397248 GAA > - KCNMA1 NM_001271519.1:c.153_155del
NM_001271520.1:c.153_155del
NM_001271518.1:c.153_155del
NM_001161352.1:c.153_155del
NM_001271521.1:c.153_155del
NM_001014797.2:c.153_155del
NM_001161353.1:c.153_155del
NM_002247.3:c.153_155del
NM_001271522.1:c.153_155del
NP_001258448.1:p.Ser60del
NP_001258449.1:p.Ser60del
NP_001258447.1:p.Ser60del
NP_001154824.1:p.Ser60del
NP_001258450.1:p.Ser60del
NP_001014797.1:p.Ser60del
NP_001154825.1:p.Ser60del
NP_002238.2:p.Ser60del
NP_001258451.1:p.Ser60del
10/5120 0.00107 4 in_frame_indel Likely Benign
View 10 79397263 79397264 - > GAG KCNMA1 NM_001271519.1:c.135_137dupCTC
NM_001271520.1:c.135_137dupCTC
NM_001271518.1:c.135_137dupCTC
NM_001161352.1:c.135_137dupCTC
NM_001271521.1:c.135_137dupCTC
NM_001161353.1:c.135_137dupCTC
NM_001014797.2:c.135_137dupCTC
NM_001271522.1:c.135_137dupCTC
NM_002247.3:c.135_137dupCTC
NP_001258448.1:p.Ser60dup
NP_001258449.1:p.Ser60dup
NP_001258447.1:p.Ser60dup
NP_001154824.1:p.Ser60dup
NP_001258450.1:p.Ser60dup
NP_001154825.1:p.Ser60dup
NP_001014797.1:p.Ser60dup
NP_001258451.1:p.Ser60dup
NP_002238.2:p.Ser60dup
27/5119 0.00264 4 in_frame_indel Likely Benign
View 10 79745881 79745881 T > C POLR3A NM_007055.3:c.2938A>G
NP_008986.2:p.Ile980Val
65/5119 0.00635 4 non_synonymous Likely Benign
View 10 79769647 79769647 C > T POLR3A NM_007055.3:c.1745G>A
NP_008986.2:p.Arg582His
23/5119 0.00225 4 Likely Benign
View 10 88446830 88446830 G > A LDB3 NM_001080114.1:c.349G>A
NM_001171610.1:c.694G>A
NM_001080115.1:c.690-4823G>A
NM_007078.2:c.690-4823G>A
NM_001171611.1:c.694G>A
NM_001080116.1:c.349G>A
NP_001073583.1:p.Asp117Asn
NP_001165081.1:p.Asp232Asn
NP_001165082.1:p.Asp232Asn
NP_001073585.1:p.Asp117Asn
83/5119 0.00811 4 Likely Benign
View 10 88451715 88451715 A > G LDB3 NM_001171611.1:c.956A>G
NM_001080116.1:c.611A>G
NM_007078.2:c.752A>G
NM_001080115.1:c.752A>G
NM_001171610.1:c.956A>G
NM_001080114.1:c.611A>G
NP_001165082.1:p.Lys319Arg
NP_001073585.1:p.Lys204Arg
NP_009009.1:p.Lys251Arg
NP_001073584.1:p.Lys251Arg
NP_001165081.1:p.Lys319Arg
NP_001073583.1:p.Lys204Arg
66/5120 0.00674 4 non_synonymous Likely Benign
View 10 88822405 88822405 G > T GLUD1 NM_005271.3:c.921+8C>A
53/5119 0.00518 4 five_prime_intronic Likely Benign
Displaying 100 through 150 of 1,587 variants