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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 RD3 NM_001164688.1:c.584A>T
NM_183059.2:c.584A>T
NP_001158160.1:p.Asp195Val
NP_898882.1:p.Asp195Val
251/13144 0.00962 4 curation Likely Benign
View 1 215848436 215848436 A > G USH2A ENST00000307340.3:c.12817T>C
ENSP00000305941.3:p.Tyr4273His
29/14969 0.00097 4 curation Likely Benign
View 1 216270422 216270422 T > C USH2A ENST00000307340.3:c.4758+3A>G
21/13812 0.00076 4 curation 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
463/14969 0.01557 4 curation 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
126/13144 0.00479 4 curation Likely Benign
View 1 220101127 220101127 T > C SLC30A10 SLC30A10 NR_046437.1:n.851+16A>G
NM_018713.2:c.640+16A>G
120/11963 0.0051 4 curation 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
40/14969 0.00134 4 curation 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
36/13585 0.00132 4 curation Likely Benign
View 1 226037778 226037778 G > C TMEM63A NM_014698.2:c.1906C>G
NP_055513.2:p.Leu636Val
63/13105 0.0024 4 non_synonymous Likely Benign
View 1 227152761 227152761 C > T COQ8A NM_020247.4:c.238C>T
NP_064632.2:p.His80Tyr
33/14969 0.0011 4 curation Likely Benign
View 1 228345567 228345567 C > T GJC2 NM_020435.3:c.108C>T
NP_065168.2:p.Ile36=
103/14969 0.00354 4 curation Likely Benign
View 1 228346652 228346652 C > T GJC2 NM_020435.3:c.1193C>T
NP_065168.2:p.Thr398Ile
48/14969 0.0016 4 curation Likely Benign
View 1 231114945 231114945 T > C ARV1 NM_022786.1:c.94T>C
NP_073623.1:p.Tyr32His
59/13144 0.00224 4 curation 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
41/13144 0.0016 4 curation 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
68/13144 0.00259 4 curation 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
478/13831 0.01789 4 curation 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
89/14969 0.00301 4 curation Likely Benign
View 1 235840495 235840495 G > T LYST NM_000081.3:c.10941-7C>A
247/13832 0.00904 4 curation Likely Benign
View 1 235909738 235909738 G > A LYST NM_000081.3:c.7870C>T
NP_000072.2:p.Arg2624Trp
97/14969 0.00324 4 Likely Benign
View 1 235938329 235938329 A > C LYST NM_000081.3:c.5518T>G
NP_000072.2:p.Ser1840Ala
184/14969 0.00618 4 curation Likely Benign
View 1 235973750 235973750 T > C LYST NM_000081.3:c.368A>G
NP_000072.2:p.His123Arg
35/14969 0.0013 4 curation Likely Benign
View 1 236849999 236849999 A > G ACTN2 ACTN2 ACTN2 ENST00000542672.1:c.26A>G
NM_001278344.1:c.-796A>G
ENST00000366578.4:c.26A>G
ENSP00000443495.1:p.Gln9Arg
ENSP00000355537.4:p.Gln9Arg
28/13144 0.00107 4 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
35/11986 0.00146 4 curation Likely Benign
View 1 236908028 236908028 C > T ACTN2 ACTN2 ACTN2 ENST00000542672.1:c.1358C>T
NM_001278344.1:c.734C>T
ENST00000366578.4:c.1358C>T
ENSP00000443495.1:p.Ala453Val
NP_001265273.1:p.Ala245Val
ENSP00000355537.4:p.Ala453Val
3/13144 0.00011 4 non_synonymous Likely Benign
View 1 237730059 237730059 C > T RYR2 NM_001035.2:c.3407C>T
NP_001026.2:p.Ala1136Val
271/13333 0.01016 4 curation Likely Benign
View 1 237794847 237794847 G > A RYR2 NM_001035.2:c.6555+6G>A
20/11985 0.00083 4 curation Likely Benign
View 1 237893673 237893673 G > T RYR2 NM_001035.2:c.10935+17G>T
9/11944 0.00038 4 curation Likely Benign
View 1 237961484 237961484 C > T RYR2 NM_001035.2:c.14090+14C>T
3/11944 0.00013 4 curation Likely Benign
View 1 240256066 240256067 - > CAG FMN2 NM_020066.4:c.674_676dupAGC
NP_064450.3:p.Gln225dup
44/13144 0.00171 4 curation Likely Benign
View 1 240256761 240256761 T > A FMN2 NM_020066.4:c.1352T>A
NP_064450.3:p.Leu451Gln
31/13144 0.00122 4 curation Likely Benign
View 1 240370769 240370769 T > G FMN2 NM_020066.4:c.2657T>G
NP_064450.3:p.Met886Arg
141/13144 0.00544 4 curation Likely Benign
View 1 240370942 240370974 del > - FMN2 NM_020066.4:c.2830_2862del
NP_064450.3:p.Ala952_Ala194del
64/13144 0.00243 4 curation Likely Benign
View 1 240370967 240370967 C > G FMN2 NM_020066.4:c.2855C>G
NP_064450.3:p.Ala952Gly
487/13144 0.01891 4 curation Likely Benign
View 1 241682970 241682970 G > A FH NM_000143.3:c.53C>T
NP_000134.2:p.Pro18Leu
51/14969 0.0017 4 curation Likely Benign
View 1 243493867 243493867 G > A SDCCAG8 NM_006642.3:c.1094G>A
NP_006633.1:p.Arg365Lys
15/13144 0.00057 3 non_synonymous Likely Benign
View 1 245021294 245021294 A > - HNRNPU HNRNPU NM_031844.2:c.1494+21del
NM_004501.3:c.1437+21del
333/11988 0.01527 4 curation 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
241/11962 0.01024 4 curation 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
26/11984 0.00108 4 curation 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
205/13144 0.0078 4 curation 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
22/11944 0.00092 4 curation 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
1/13144 4.0e-05 3 non_synonymous Likely Benign
View 10 12123525 12123525 C > G DHTKD1 ENST00000263035.4:c.209C>G
ENSP00000263035.4:p.Ala70Gly
157/13144 0.00601 4 curation Likely Benign
View 10 12129639 12129639 G > T DHTKD1 ENST00000263035.4:c.628G>T
ENSP00000263035.4:p.Ala210Ser
98/13144 0.00373 4 curation Likely Benign
View 10 12139874 12139874 C > T DHTKD1 ENST00000263035.4:c.1550C>T
ENSP00000263035.4:p.Ala517Val
51/13144 0.00194 4 curation 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
184/13144 0.00708 4 curation 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
107/14969 0.00364 4 curation 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
353/14969 0.01199 4 curation Likely Benign
View 10 16932454 16932454 C > T CUBN NM_001081.3:c.8671G>A
NP_001072.2:p.Val2891Ile
17/13144 0.00065 4 curation Likely Benign
View 10 17085903 17085903 C > G CUBN NM_001081.3:c.3752G>C
NP_001072.2:p.Ser1251Thr
64/13144 0.00243 4 curation Likely Benign
View 10 17146341 17146341 G > C CUBN NM_001081.3:c.1417+77C>G
79/11949 0.00331 4 intronic Likely Benign
Displaying 200 through 250 of 3,378 variants