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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 162724611 162724611 G > A DDR2 DDR2 NM_006182.2:c.383G>A
NM_001014796.1:c.383G>A
NP_006173.2:p.Arg128His
NP_001014796.1:p.Arg128His
1/6213 8.0e-05 3 non_synonymous Uncertain Significance
View 1 182354983 182354983 C > G GLUL GLUL GLUL NM_001033056.2:c.515G>C
NM_001033044.2:c.515G>C
NM_002065.5:c.515G>C
NP_001028228.1:p.Gly172Ala
NP_001028216.1:p.Gly172Ala
NP_002056.2:p.Gly172Ala
1/6213 8.0e-05 3 non_synonymous Uncertain Significance
View 1 197071299 197071299 G > C ASPM ASPM NM_018136.4:c.7082C>G
NM_001206846.1:c.4066-6005C>G
NP_060606.3:p.Ser2361Cys
2/6213 0.00016 3 non_synonymous Uncertain Significance
View 1 201328373 201328373 G > A TNNT2 TNNT2 TNNT2 TNNT2 TNNT2 TNNT2 TNNT2 NM_001001431.2:c.823C>T
NM_001001430.2:c.832C>T
NM_000364.3:c.853C>T
NM_001276345.1:c.862C>T
NM_001276346.1:c.733C>T
NM_001276347.1:c.832C>T
NM_001001432.2:c.814C>T
NP_001001431.1:p.Arg275Cys
NP_001001430.1:p.Arg278Cys
NP_000355.2:p.Arg285Cys
NP_001263274.1:p.Arg288Cys
NP_001263275.1:p.Arg245Cys
NP_001263276.1:p.Arg278Cys
NP_001001432.1:p.Arg272Cys
10/6213 0.0008 3 Uncertain Significance
View 1 202722108 202722109 AA > - KDM5B NM_006618.3:c.1625_1626del
NP_006609.3:p.Phe542CysfsTer23
1/6213 8.0e-05 2 frameshift Uncertain Significance
View 1 205028229 205028229 C > T CNTN2 NM_005076.3:c.505C>T
NP_005067.1:p.Leu169Phe
49/6213 0.00394 3 non_synonymous Uncertain Significance
View 1 211654499 211654499 T > C RD3 RD3 NM_183059.2:c.259A>G
NM_001164688.1:c.259A>G
NP_898882.1:p.Lys87Glu
NP_001158160.1:p.Lys87Glu
12/6213 0.00097 3 Uncertain Significance
View 1 214820265 214820265 A > G CENPF NM_016343.3:c.7352A>G
NP_057427.3:p.Asn2451Ser
4/6174 0.00032 3 non_synonymous Uncertain Significance
View 1 220279317 220279317 T > C IARS2 NM_018060.3:c.1151T>C
NP_060530.3:p.Met384Thr
3/6213 0.00024 3 non_synonymous Uncertain Significance
View 1 220355619 220355619 G > A RAB3GAP2 NM_012414.3:c.2290C>T
NP_036546.2:p.Leu764Phe
19/8004 0.00119 3 non_synonymous Uncertain Significance
View 1 227170644 227170644 A > G COQ8A NM_020247.4:c.989A>G
NP_064632.2:p.Tyr330Cys
4/8004 0.00025 3 non_synonymous Uncertain Significance
View 1 228346015 228346015 G > T GJC2 NM_020435.3:c.556G>T
NP_065168.2:p.Gly186Cys
18/8004 0.00112 3 Uncertain Significance
View 1 228346406 228346406 C > T GJC2 NM_020435.3:c.947C>T
NP_065168.2:p.Pro316Leu
15/8004 0.00094 3 Uncertain Significance
View 1 228346429 228346429 G > A GJC2 NM_020435.3:c.970G>A
NP_065168.2:p.Ala324Thr
2/8004 0.00012 3 non_synonymous Uncertain Significance
View 1 228346693 228346693 C > T GJC2 NM_020435.3:c.1234C>T
NP_065168.2:p.His412Tyr
19/8004 0.00119 3 Uncertain Significance
View 1 235577815 235577815 A > G TBCE TBCE NM_003193.3:c.253A>G
NM_001079515.1:c.253A>G
NP_003184.1:p.Ile85Val
NP_001072983.1:p.Ile85Val
5/8004 0.00031 3 non_synonymous Uncertain Significance
View 1 237048482 237048482 A > T MTR NM_000254.2:c.2738A>T
NP_000245.2:p.Tyr913Phe
2/6213 0.00016 3 Uncertain Significance
View 1 237655172 237655172 G > T RYR2 NM_001035.2:c.1775G>T
NP_001026.2:p.Gly592Val
1/6402 8.0e-05 3 non_synonymous Uncertain Significance
View 1 237791239 237791239 G > A RYR2 NM_001035.2:c.6299G>A
NP_001026.2:p.Arg2100Gln
3/6402 0.00023 3 non_synonymous Uncertain Significance
View 1 237957188 237957188 C > T RYR2 NM_001035.2:c.13804C>T
NP_001026.2:p.Arg4602Ter
2/6402 0.00016 3 premature_stop Uncertain Significance
View 1 240256362 240256362 C > T FMN2 NM_020066.4:c.953C>T
NP_064450.3:p.Pro318Leu
2/6213 0.00016 3 non_synonymous Uncertain Significance
View 1 240256668 240256668 A > C FMN2 NM_020066.4:c.1259A>C
NP_064450.3:p.Lys420Thr
37/6213 0.00306 3 non_synonymous Uncertain Significance
View 1 240421302 240421302 C > A FMN2 NM_020066.4:c.4123C>A
NP_064450.3:p.Leu1375Ile
6/6213 0.00048 3 non_synonymous Uncertain Significance
View 1 244217383 244217383 A > T ZBTB18 ZBTB18 ZBTB18 NM_006352.4:c.280A>T
NM_205768.2:c.307A>T
NM_001278196.1:c.280A>T
NP_006343.2:p.Ile94Phe
NP_991331.1:p.Ile103Phe
NP_001265125.1:p.Ile94Phe
2/6213 0.00016 3 non_synonymous Uncertain Significance
View 1 245005295 245005295 G > A HNRNPU-AS1 COX20 NR_026778.1:n.3690C>T
NM_198076.4:c.92G>A
NP_932342.1:p.Arg31Gln
6/6213 0.00048 3 non_synonymous Uncertain Significance
View 10 294304 294304 G > A ZMYND11 ZMYND11 ZMYND11 ZMYND11 ZMYND11 ZMYND11 ZMYND11 NM_001202467.1:c.1094G>A
NM_001202465.1:c.1001G>A
NM_212479.3:c.1253G>A
NM_001202464.1:c.1094G>A
NM_001202466.1:c.1091G>A
NM_006624.5:c.1256G>A
NM_001202468.1:c.1256G>A
NP_001189396.1:p.Ser365Asn
NP_001189394.1:p.Ser334Asn
NP_997644.2:p.Ser418Asn
NP_001189393.1:p.Ser365Asn
NP_001189395.1:p.Ser364Asn
NP_006615.2:p.Ser419Asn
NP_001189397.1:p.Ser419Asn
1/6213 8.0e-05 3 non_synonymous Uncertain Significance
View 10 14950747 14950747 G > A DCLRE1C DCLRE1C DCLRE1C DCLRE1C NM_001033858.1:c.1379C>T
NM_001033857.1:c.1379C>T
NM_001033855.1:c.1739C>T
NM_022487.2:c.1394C>T
NP_001029030.1:p.Pro460Leu
NP_001029029.1:p.Pro460Leu
NP_001029027.1:p.Pro580Leu
NP_071932.2:p.Pro465Leu
3/8004 0.00019 3 non_synonymous Uncertain Significance
View 10 26409656 26409656 A > G MYO3A NM_017433.4:c.1828A>G
NP_059129.3:p.Ile610Val
6/6213 0.00048 3 non_synonymous Uncertain Significance
View 10 27009232 27009232 G > A PDSS1 NM_014317.3:c.553G>A
NP_055132.2:p.Asp185Asn
1/8004 6.0e-05 3 non_synonymous Uncertain Significance
View 10 28878720 28878720 A > G WAC WAC WAC NR_024557.2:n.911A>G
NM_100486.3:c.437A>G
NM_016628.4:c.437A>G
NP_567823.1:p.Tyr146Cys
NP_057712.2:p.Tyr146Cys
1/6213 8.0e-05 3 non_synonymous Uncertain Significance
View 10 28903518 28903518 A > C WAC WAC WAC NR_024557.2:n.1934A>C
NM_100486.3:c.1151A>C
NM_016628.4:c.1460A>C
NP_567823.1:p.Gln384Pro
NP_057712.2:p.Gln487Pro
2/6213 0.00016 3 non_synonymous Uncertain Significance
View 10 30630500 30630500 C > T MTPAP NM_018109.3:c.227G>A
NP_060579.3:p.Arg76Gln
2/6213 0.00016 3 non_synonymous Uncertain Significance
View 10 48382036 48382036 A > T RBP3 NM_002900.2:c.3613T>A
NP_002891.1:p.Ser1205Thr
3/6213 0.00024 3 non_synonymous Uncertain Significance
View 10 50678363 50678363 C > T ERCC6 NM_000124.3:c.3643G>A
NP_000115.1:p.Ala1215Thr
1/8004 6.0e-05 3 non_synonymous Uncertain Significance
View 10 50684346 50684346 C > A ERCC6 NM_000124.3:c.2297G>T
NP_000115.1:p.Cys766Phe
2/8004 0.00012 3 non_synonymous Uncertain Significance
View 10 61835217 61835217 T > C ANK3 ANK3 ANK3 ANK3 NM_001149.3:c.1807+5078A>G
NM_001204404.1:c.4408+5078A>G
NM_020987.3:c.5422A>G
NM_001204403.1:c.4387+5078A>G
NP_066267.2:p.Ile1808Val
1/6213 8.0e-05 3 non_synonymous Uncertain Significance
View 10 61955908 61955908 C > T ANK3 ANK3 ANK3 NM_001204404.1:c.1831G>A
NM_020987.3:c.1882G>A
NM_001204403.1:c.1864G>A
NP_001191333.1:p.Ala611Thr
NP_066267.2:p.Ala628Thr
NP_001191332.1:p.Ala622Thr
4/6213 0.00032 3 non_synonymous Uncertain Significance
View 10 61962857 61962857 G > A ANK3 ANK3 ANK3 NM_001204404.1:c.1244C>T
NM_020987.3:c.1295C>T
NM_001204403.1:c.1277C>T
NP_001191333.1:p.Ser415Leu
NP_066267.2:p.Ser432Leu
NP_001191332.1:p.Ser426Leu
2/6213 0.00016 3 non_synonymous Uncertain Significance
View 10 73587868 73587868 A > C PSAP PSAP PSAP NM_001042466.1:c.623T>G
NM_001042465.1:c.623T>G
NM_002778.2:c.623T>G
NP_001035931.1:p.Ile208Ser
NP_001035930.1:p.Ile208Ser
NP_002769.1:p.Ile208Ser
6/8004 0.00037 3 non_synonymous Uncertain Significance
View 10 73767307 73767307 C > T CHST3 NM_004273.4:c.518C>T
NP_004264.2:p.Ser173Phe
2/6435 0.00016 3 non_synonymous Uncertain Significance
View 10 76729526 76729526 G > A KAT6B KAT6B KAT6B NM_001256469.1:c.839G>A
NM_001256468.1:c.839G>A
NM_012330.3:c.839G>A
NP_001243398.1:p.Arg280Lys
NP_001243397.1:p.Arg280Lys
NP_036462.2:p.Arg280Lys
1/6213 8.0e-05 3 non_synonymous Uncertain Significance
View 10 89622108 89622108 A > C KLLN NM_001126049.1:c.137T>G
NP_001119521.1:p.Phe46Cys
1/6213 8.0e-05 3 non_synonymous Uncertain Significance
View 10 95930939 95930939 C > T PLCE1 PLCE1 NM_016341.3:c.1495C>T
NM_001165979.1:c.571C>T
NP_057425.3:p.Arg499Cys
NP_001159451.1:p.Arg191Cys
31/8004 0.00194 3 Uncertain Significance
View 10 97371177 97371177 T > C ALDH18A1 ALDH18A1 NM_001017423.1:c.1940A>G
NM_002860.3:c.1946A>G
NP_001017423.1:p.Lys647Arg
NP_002851.2:p.Lys649Arg
4/6213 0.00032 3 non_synonymous Uncertain Significance
View 10 99502913 99502916 TGAA > - ZFYVE27 ZFYVE27 ZFYVE27 ZFYVE27 ZFYVE27 ZFYVE27 ZFYVE27 NM_144588.6:c.263_266del
NM_001174119.1:c.173-1570_173-1567del
NM_001174120.1:c.197+4485_197+4488del
NM_001174121.1:c.-26-1570_-26-1567del
NM_001002261.3:c.263_266del
NM_001174122.1:c.197+4485_197+4488del
NM_001002262.3:c.263_266del
NP_653189.3:p.Asn88ArgfsTer7
NP_001002261.1:p.Asn88ArgfsTer7
NP_001002262.1:p.Asn88ArgfsTer7
3/6213 0.00024 2 frameshift Uncertain Significance
View 10 103534548 103534548 T > G FGF8 FGF8 FGF8 FGF8 FGF8 NM_033163.3:c.278A>C
NM_006119.4:c.191A>C
NM_033164.3:c.245A>C
NM_033165.3:c.158A>C
NM_001206389.1:c.-35A>C
NP_149353.1:p.His93Pro
NP_006110.1:p.His64Pro
NP_149354.1:p.His82Pro
NP_149355.1:p.His53Pro
1/6213 8.0e-05 3 non_synonymous Uncertain Significance
View 10 111893356 111893358 AAG > - ADD3 ADD3 ADD3 NM_019903.3:c.2005_2007del
NM_016824.3:c.2101_2103del
NM_001121.2:c.2005_2007del
NP_063968.1:p.Lys669del
NP_058432.1:p.Lys701del
NP_001112.2:p.Lys669del
2/6174 0.00016 3 in_frame_indel Uncertain Significance
View 10 111893374 111893377 TAAA > - ADD3 ADD3 ADD3 NM_019903.3:c.*2_*5del
NM_016824.3:c.*2_*5del
NM_001121.2:c.*2_*5del
5/6174 0.0004 3 disruption_of_stop Uncertain Significance
View 10 124812634 124812634 A > G ACADSB NM_001609.3:c.1186A>G
NP_001600.1:p.Lys396Glu
2/6213 0.00016 3 non_synonymous Uncertain Significance
View 10 135186831 135186831 C > T ECHS1 NM_004092.3:c.7G>A
NP_004083.3:p.Ala3Thr
2/6213 0.00016 3 non_synonymous Uncertain Significance
Displaying 50 through 100 of 1,072 variants