Download: Excel

Chr Start Stop Change Gene(s) HGVS_C HGVS_P Sample Count CMH MAF ACMG Cat. ACMG Note Curation
View 1 237823369 237823369 G > T RYR2 NM_001035.2:c.8293G>T
NP_001026.2:p.Glu2765Ter
1/13333 4.0e-05 2 premature_stop Uncertain Significance
View 1 237949299 237949299 G > A RYR2 NM_001035.2:c.13291G>A
NP_001026.2:p.Glu4431Lys
7/13333 0.00026 3 Uncertain Significance
View 1 237957188 237957188 C > T RYR2 NM_001035.2:c.13804C>T
NP_001026.2:p.Arg4602Ter
2/13333 8.0e-05 3 curation Uncertain Significance
View 1 240256362 240256362 C > T FMN2 NM_020066.4:c.953C>T
NP_064450.3:p.Pro318Leu
6/13144 0.00023 3 non_synonymous Uncertain Significance
View 1 240256653 240256653 C > G FMN2 NM_020066.4:c.1244C>G
NP_064450.3:p.Thr415Ser
1/13144 4.0e-05 3 non_synonymous Uncertain Significance
View 1 240256668 240256668 A > C FMN2 NM_020066.4:c.1259A>C
NP_064450.3:p.Lys420Thr
91/13144 0.0035 3 non_synonymous Uncertain Significance
View 1 240371314 240371314 C > T FMN2 NM_020066.4:c.3202C>T
NP_064450.3:p.Pro1068Ser
5/13144 0.00019 3 non_synonymous Uncertain Significance
View 1 240421302 240421302 C > A FMN2 NM_020066.4:c.4123C>A
NP_064450.3:p.Leu1375Ile
10/13144 0.00038 3 non_synonymous Uncertain Significance
View 1 240492419 240492419 G > A FMN2 NM_020066.4:c.4259G>A
NP_064450.3:p.Arg1420Gln
2/13144 8.0e-05 3 non_synonymous Uncertain Significance
View 1 240656550 240656550 G > C GREM2 NM_022469.3:c.226C>G
NP_071914.3:p.Gln76Glu
87/13105 0.00336 3 curation Uncertain Significance
View 1 243504462 243504462 T > C SDCCAG8 NM_006642.3:c.1343T>C
NP_006633.1:p.Met448Thr
3/13144 0.00011 3 non_synonymous Uncertain Significance
View 1 243663047 243663048 - > T AKT3 AKT3 SDCCAG8 AKT3 NM_005465.4:c.*5503dupA
NM_181690.2:c.1395dupA
NM_006642.3:c.2113-5dupT
NM_001206729.1:c.1395dupA
NP_859029.1:p.Ter466IlefsTer22
NP_001193658.1:p.Ter466IlefsTer8
2/13144 8.0e-05 3 frameshift Uncertain Significance
View 1 244217383 244217383 A > T ZBTB18 ZBTB18 ZBTB18 NM_205768.2:c.307A>T
NM_001278196.1:c.280A>T
NM_006352.4:c.280A>T
NP_991331.1:p.Ile103Phe
NP_001265125.1:p.Ile94Phe
NP_006343.2:p.Ile94Phe
2/13144 8.0e-05 3 non_synonymous Uncertain Significance
View 1 244217615 244217615 C > T ZBTB18 ZBTB18 ZBTB18 NM_205768.2:c.539C>T
NM_001278196.1:c.512C>T
NM_006352.4:c.512C>T
NP_991331.1:p.Pro180Leu
NP_001265125.1:p.Pro171Leu
NP_006343.2:p.Pro171Leu
2/13144 8.0e-05 3 non_synonymous Uncertain Significance
View 1 244217714 244217714 A > G ZBTB18 ZBTB18 ZBTB18 NM_205768.2:c.638A>G
NM_001278196.1:c.611A>G
NM_006352.4:c.611A>G
NP_991331.1:p.His213Arg
NP_001265125.1:p.His204Arg
NP_006343.2:p.His204Arg
4/13144 0.00015 3 non_synonymous Uncertain Significance
View 1 245005295 245005295 G > A COX20 HNRNPU-AS1 NM_198076.4:c.92G>A
NR_026778.1:n.3690C>T
NP_932342.1:p.Arg31Gln
11/13144 0.00042 3 non_synonymous Uncertain Significance
View 10 288038 288038 C > A ZMYND11 ZMYND11 ZMYND11 ZMYND11 ZMYND11 ZMYND11 ZMYND11 NM_001202468.1:c.909C>A
NM_001202467.1:c.747C>A
NM_001202466.1:c.744C>A
NM_001202465.1:c.654C>A
NM_001202464.1:c.747C>A
NM_212479.3:c.906C>A
NM_006624.5:c.909C>A
NP_001189397.1:p.Asp303Glu
NP_001189396.1:p.Asp249Glu
NP_001189395.1:p.Asp248Glu
NP_001189394.1:p.Asp218Glu
NP_001189393.1:p.Asp249Glu
NP_997644.2:p.Asp302Glu
NP_006615.2:p.Asp303Glu
1/13144 4.0e-05 3 non_synonymous Uncertain Significance
View 10 294304 294304 G > A ZMYND11 ZMYND11 ZMYND11 ZMYND11 ZMYND11 ZMYND11 ZMYND11 NM_001202468.1:c.1256G>A
NM_001202467.1:c.1094G>A
NM_001202466.1:c.1091G>A
NM_001202465.1:c.1001G>A
NM_001202464.1:c.1094G>A
NM_212479.3:c.1253G>A
NM_006624.5:c.1256G>A
NP_001189397.1:p.Ser419Asn
NP_001189396.1:p.Ser365Asn
NP_001189395.1:p.Ser364Asn
NP_001189394.1:p.Ser334Asn
NP_001189393.1:p.Ser365Asn
NP_997644.2:p.Ser418Asn
NP_006615.2:p.Ser419Asn
1/13144 4.0e-05 3 non_synonymous Uncertain Significance
View 10 12111096 12111096 C > A DHTKD1 ENST00000263035.4:c.64C>A
ENSP00000263035.4:p.Arg22Ser
5/13144 0.00019 3 non_synonymous Uncertain Significance
View 10 14950747 14950747 G > A DCLRE1C DCLRE1C DCLRE1C DCLRE1C NM_022487.2:c.1394C>T
NM_001033855.1:c.1739C>T
NM_001033857.1:c.1379C>T
NM_001033858.1:c.1379C>T
NP_071932.2:p.Pro465Leu
NP_001029027.1:p.Pro580Leu
NP_001029029.1:p.Pro460Leu
NP_001029030.1:p.Pro460Leu
5/14969 0.00017 3 non_synonymous Uncertain Significance
View 10 15649734 15649734 G > A ITGA8 ENST00000378076.3:c.1706C>T
ENSP00000367316.3:p.Pro569Leu
3/13144 0.00011 3 non_synonymous Uncertain Significance
View 10 26241191 26241191 T > A MYO3A NM_017433.4:c.152T>A
NP_059129.3:p.Ile51Asn
7/13144 0.00027 3 non_synonymous Uncertain Significance
View 10 26409656 26409656 A > G MYO3A NM_017433.4:c.1828A>G
NP_059129.3:p.Ile610Val
15/13144 0.00057 3 non_synonymous Uncertain Significance
View 10 27009232 27009232 G > A PDSS1 NM_014317.3:c.553G>A
NP_055132.2:p.Asp185Asn
3/14969 0.0001 3 non_synonymous Uncertain Significance
View 10 28878720 28878720 A > G WAC WAC WAC NM_016628.4:c.437A>G
NM_100486.3:c.437A>G
NR_024557.2:n.911A>G
NP_057712.2:p.Tyr146Cys
NP_567823.1:p.Tyr146Cys
1/13144 4.0e-05 3 non_synonymous Uncertain Significance
View 10 28903518 28903518 A > C WAC WAC WAC NM_016628.4:c.1460A>C
NM_100486.3:c.1151A>C
NR_024557.2:n.1934A>C
NP_057712.2:p.Gln487Pro
NP_567823.1:p.Gln384Pro
3/13144 0.00011 3 non_synonymous Uncertain Significance
View 10 28905283 28905283 G > A WAC WAC WAC NM_016628.4:c.1738G>A
NM_100486.3:c.1429G>A
NR_024557.2:n.2212G>A
NP_057712.2:p.Glu580Lys
NP_567823.1:p.Glu477Lys
2/13144 8.0e-05 3 non_synonymous Uncertain Significance
View 10 30630500 30630500 C > T MTPAP NM_018109.3:c.227G>A
NP_060579.3:p.Arg76Gln
4/13144 0.00015 3 non_synonymous Uncertain Significance
View 10 48382036 48382036 A > T RBP3 NM_002900.2:c.3613T>A
NP_002891.1:p.Ser1205Thr
5/13144 0.00019 3 non_synonymous Uncertain Significance
View 10 50678363 50678363 C > T ERCC6 NM_000124.3:c.3643G>A
NP_000115.1:p.Ala1215Thr
1/14969 3.0e-05 3 non_synonymous Uncertain Significance
View 10 50684346 50684346 C > A ERCC6 NM_000124.3:c.2297G>T
NP_000115.1:p.Cys766Phe
2/14969 7.0e-05 3 non_synonymous Uncertain Significance
View 10 50732618 50732618 C > G ERCC6-PGBD3 ERCC6-PGBD3 ERCC6 NM_001277059.1:c.858G>C
NM_001277058.1:c.858G>C
NM_000124.3:c.858G>C
NP_001263988.1:p.Lys286Asn
NP_001263987.1:p.Lys286Asn
NP_000115.1:p.Lys286Asn
2/14969 7.0e-05 3 non_synonymous Uncertain Significance
View 10 55569084 55569110 del > - PCDH15 PCDH15 PCDH15 PCDH15 NM_001142769.1:c.4715_4741del
NM_001142770.1:c.*130_*156del
NM_001142772.1:c.4482+1206_4482+1232del
NM_001142771.1:c.4497+1206_4497+1232del
NP_001136241.1:p.Gly1572_Glu1371del
7/13144 0.00027 3 in_frame_indel Uncertain Significance
View 10 61834719 61834719 G > C ANK3 ANK3 ANK3 ANK3 NM_001204403.1:c.4387+5576C>G
NM_001204404.1:c.4408+5576C>G
NM_001149.3:c.1807+5576C>G
NM_020987.3:c.5920C>G
NP_066267.2:p.Pro1974Ala
7/13144 0.00027 3 non_synonymous Uncertain Significance
View 10 61835217 61835217 T > C ANK3 ANK3 ANK3 ANK3 NM_001204403.1:c.4387+5078A>G
NM_001204404.1:c.4408+5078A>G
NM_001149.3:c.1807+5078A>G
NM_020987.3:c.5422A>G
NP_066267.2:p.Ile1808Val
3/13144 0.00011 3 non_synonymous Uncertain Significance
View 10 61836019 61836019 T > C ANK3 ANK3 ANK3 ANK3 NM_001204403.1:c.4387+4276A>G
NM_001204404.1:c.4408+4276A>G
NM_001149.3:c.1807+4276A>G
NM_020987.3:c.4620A>G
NP_066267.2:p.Ile1540Met
2/13144 8.0e-05 3 non_synonymous Uncertain Significance
View 10 61955908 61955908 C > T ANK3 ANK3 ANK3 NM_001204403.1:c.1864G>A
NM_001204404.1:c.1831G>A
NM_020987.3:c.1882G>A
NP_001191332.1:p.Ala622Thr
NP_001191333.1:p.Ala611Thr
NP_066267.2:p.Ala628Thr
4/13144 0.00015 3 non_synonymous Uncertain Significance
View 10 61962857 61962857 G > A ANK3 ANK3 ANK3 NM_001204403.1:c.1277C>T
NM_001204404.1:c.1244C>T
NM_020987.3:c.1295C>T
NP_001191332.1:p.Ser426Leu
NP_001191333.1:p.Ser415Leu
NP_066267.2:p.Ser432Leu
2/13144 8.0e-05 3 non_synonymous Uncertain Significance
View 10 64573317 64573317 T > C EGR2 EGR2 EGR2 ENST00000242480.3:c.1081A>G
ENST00000411732.1:c.931A>G
ENST00000439032.1:c.1081A>G
ENSP00000242480.3:p.Ile361Val
ENSP00000387634.1:p.Ile311Val
ENSP00000402040.1:p.Ile361Val
1/14969 3.0e-05 3 non_synonymous Uncertain Significance
View 10 70406346 70406346 A > G TET1 NM_030625.2:c.3860A>G
NP_085128.2:p.Gln1287Arg
1/13144 4.0e-05 3 non_synonymous Uncertain Significance
View 10 72195155 72195155 C > T NODAL NM_018055.4:c.778G>A
NP_060525.3:p.Gly260Arg
5/13144 0.00019 3 curation Uncertain Significance
View 10 73337757 73337757 A > G CDH23 CDH23 CDH23 CDH23 CDH23 NM_001171932.1:c.832+8A>G
NM_001171931.1:c.832+8A>G
NM_022124.5:c.832+8A>G
NM_001171930.1:c.832+8A>G
NM_052836.3:c.832+8A>G
27/13813 0.00101 3 five_prime_intronic Uncertain Significance
View 10 73587868 73587868 A > C PSAP PSAP PSAP NM_001042465.1:c.623T>G
NM_001042466.1:c.623T>G
NM_002778.2:c.623T>G
NP_001035930.1:p.Ile208Ser
NP_001035931.1:p.Ile208Ser
NP_002769.1:p.Ile208Ser
8/14969 0.00027 3 non_synonymous Uncertain Significance
View 10 73767307 73767307 C > T CHST3 NM_004273.4:c.518C>T
NP_004264.2:p.Ser173Phe
2/13585 7.0e-05 3 non_synonymous Uncertain Significance
View 10 76729526 76729526 G > A KAT6B KAT6B KAT6B NM_001256469.1:c.839G>A
NM_012330.3:c.839G>A
NM_001256468.1:c.839G>A
NP_001243398.1:p.Arg280Lys
NP_036462.2:p.Arg280Lys
NP_001243397.1:p.Arg280Lys
1/13144 4.0e-05 3 non_synonymous Uncertain Significance
View 10 78832849 78832849 C > T KCNMA1 KCNMA1 KCNMA1 KCNMA1 KCNMA1 KCNMA1 NM_002247.3:c.1749+6G>A
NM_001014797.2:c.1749+6G>A
NM_001271519.1:c.1749+6G>A
NM_001271518.1:c.1587+6G>A
NM_001161353.1:c.1749+6G>A
NM_001161352.1:c.1749+6G>A
4/11986 0.00017 3 five_prime_flank Uncertain Significance
View 10 79784767 79784767 C > T POLR3A NM_007055.3:c.452G>A
NP_008986.2:p.Arg151Gln
1/13144 4.0e-05 3 non_synonymous Uncertain Significance
View 10 81049602 81049602 G > A ZMIZ1 NM_020338.3:c.496G>A
NP_065071.1:p.Val166Met
3/13105 0.00011 3 non_synonymous Uncertain Significance
View 10 88492731 88492731 T > C LDB3 LDB3 LDB3 NM_001080114.1:c.1852T>C
NM_001171610.1:c.2197T>C
NM_007078.2:c.2182T>C
NP_001073583.1:p.Ter618GlnextTer62
NP_001165081.1:p.Ter733GlnextTer62
NP_009009.1:p.Ter728GlnextTer62
2/13144 8.0e-05 3 disruption_of_stop Uncertain Significance
View 10 89622088 89622088 T > - KLLN NM_001126049.1:c.157del
NP_001119521.1:p.Thr53HisfsTer17
1/13144 4.0e-05 2 frameshift Uncertain Significance
Displaying 150 through 200 of 2,237 variants