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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 237048482 237048482 A > T MTR NM_000254.2:c.2738A>T
NP_000245.2:p.Tyr913Phe
2/9594 0.0001 3 Uncertain Significance
View 1 237619960 237619960 C > G RYR2 NM_001035.2:c.1537C>G
NP_001026.2:p.His513Asp
4/9783 0.0002 3 non_synonymous Uncertain Significance
View 1 237655172 237655172 G > T RYR2 NM_001035.2:c.1775G>T
NP_001026.2:p.Gly592Val
1/9783 5.0e-05 3 non_synonymous Uncertain Significance
View 1 237791239 237791239 G > A RYR2 NM_001035.2:c.6299G>A
NP_001026.2:p.Arg2100Gln
3/9783 0.00015 3 non_synonymous Uncertain Significance
View 1 237823369 237823369 G > T RYR2 NM_001035.2:c.8293G>T
NP_001026.2:p.Glu2765Ter
1/9783 5.0e-05 2 premature_stop Uncertain Significance
View 1 237957188 237957188 C > T RYR2 NM_001035.2:c.13804C>T
NP_001026.2:p.Arg4602Ter
2/9783 0.0001 3 premature_stop Uncertain Significance
View 1 240256362 240256362 C > T FMN2 NM_020066.4:c.953C>T
NP_064450.3:p.Pro318Leu
5/9594 0.00026 3 non_synonymous Uncertain Significance
View 1 240256653 240256653 C > G FMN2 NM_020066.4:c.1244C>G
NP_064450.3:p.Thr415Ser
1/9594 5.0e-05 3 non_synonymous Uncertain Significance
View 1 240256668 240256668 A > C FMN2 NM_020066.4:c.1259A>C
NP_064450.3:p.Lys420Thr
57/9594 0.00302 3 non_synonymous Uncertain Significance
View 1 240421302 240421302 C > A FMN2 NM_020066.4:c.4123C>A
NP_064450.3:p.Leu1375Ile
10/9594 0.00052 3 non_synonymous Uncertain Significance
View 1 240492419 240492419 G > A FMN2 NM_020066.4:c.4259G>A
NP_064450.3:p.Arg1420Gln
2/9594 0.0001 3 non_synonymous Uncertain Significance
View 1 240656550 240656550 G > C GREM2 NM_022469.3:c.226C>G
NP_071914.3:p.Gln76Glu
66/9555 0.00351 3 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
2/9594 0.0001 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
4/9594 0.00021 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
7/9594 0.00036 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
1/9594 5.0e-05 3 non_synonymous Uncertain Significance
View 10 12111096 12111096 C > A DHTKD1 ENST00000263035.4:c.64C>A
ENSP00000263035.4:p.Arg22Ser
5/9594 0.00026 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
5/11422 0.00022 3 non_synonymous Uncertain Significance
View 10 26409656 26409656 A > G MYO3A NM_017433.4:c.1828A>G
NP_059129.3:p.Ile610Val
6/9594 0.00031 3 non_synonymous Uncertain Significance
View 10 27009232 27009232 G > A PDSS1 NM_014317.3:c.553G>A
NP_055132.2:p.Asp185Asn
2/11422 9.0e-05 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
1/9594 5.0e-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
2/9594 0.0001 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
2/9594 0.0001 3 non_synonymous Uncertain Significance
View 10 30630500 30630500 C > T MTPAP NM_018109.3:c.227G>A
NP_060579.3:p.Arg76Gln
2/9594 0.0001 3 non_synonymous Uncertain Significance
View 10 48382036 48382036 A > T RBP3 NM_002900.2:c.3613T>A
NP_002891.1:p.Ser1205Thr
4/9594 0.00021 3 non_synonymous Uncertain Significance
View 10 50678363 50678363 C > T ERCC6 NM_000124.3:c.3643G>A
NP_000115.1:p.Ala1215Thr
1/11422 4.0e-05 3 non_synonymous Uncertain Significance
View 10 50684346 50684346 C > A ERCC6 NM_000124.3:c.2297G>T
NP_000115.1:p.Cys766Phe
2/11422 9.0e-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
2/11422 9.0e-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
4/9594 0.00021 3 in_frame_indel 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
1/9594 5.0e-05 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
2/9594 0.0001 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
4/9594 0.00021 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
2/9594 0.0001 3 non_synonymous Uncertain Significance
View 10 70406346 70406346 A > G TET1 NM_030625.2:c.3860A>G
NP_085128.2:p.Gln1287Arg
1/9594 5.0e-05 3 non_synonymous Uncertain Significance
View 10 72195155 72195155 C > T NODAL NM_018055.4:c.778G>A
NP_060525.3:p.Gly260Arg
3/9594 0.00016 3 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
8/11422 0.00035 3 non_synonymous Uncertain Significance
View 10 73767307 73767307 C > T CHST3 NM_004273.4:c.518C>T
NP_004264.2:p.Ser173Phe
2/9939 0.0001 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
1/9594 5.0e-05 3 non_synonymous Uncertain Significance
View 10 79784767 79784767 C > T POLR3A NM_007055.3:c.452G>A
NP_008986.2:p.Arg151Gln
1/9594 5.0e-05 3 non_synonymous Uncertain Significance
View 10 89622108 89622108 A > C KLLN NM_001126049.1:c.137T>G
NP_001119521.1:p.Phe46Cys
1/9594 5.0e-05 3 non_synonymous Uncertain Significance
View 10 95422384 95422384 G > T PDE6C NM_006204.3:c.2351G>T
NP_006195.3:p.Cys784Phe
2/9594 0.0001 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
43/11422 0.00193 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
4/9594 0.00021 3 non_synonymous Uncertain Significance
View 10 97453207 97453207 T > G TCTN3 TCTN3 NM_015631.5:c.283A>C
NM_001143973.1:c.283A>C
NP_056446.4:p.Thr95Pro
NP_001137445.1:p.Thr95Pro
3/9594 0.00016 3 Uncertain Significance
View 10 99502913 99502916 TGAA > - ZFYVE27 ZFYVE27 ZFYVE27 ZFYVE27 ZFYVE27 ZFYVE27 ZFYVE27 NM_001174119.1:c.173-1570_173-1567del
NM_144588.6:c.263_266del
NM_001174122.1:c.197+4485_197+4488del
NM_001002261.3:c.263_266del
NM_001174121.1:c.-26-1570_-26-1567del
NM_001002262.3:c.263_266del
NM_001174120.1:c.197+4485_197+4488del
NP_653189.3:p.Asn88ArgfsTer7
NP_001002261.1:p.Asn88ArgfsTer7
NP_001002262.1:p.Asn88ArgfsTer7
3/9594 0.00016 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_033165.3:c.158A>C
NM_033164.3:c.245A>C
NM_001206389.1:c.-35A>C
NP_149353.1:p.His93Pro
NP_006110.1:p.His64Pro
NP_149355.1:p.His53Pro
NP_149354.1:p.His82Pro
1/9594 5.0e-05 3 non_synonymous Uncertain Significance
View 10 111893356 111893358 AAG > - ADD3 ADD3 ADD3 NM_001121.2:c.2005_2007del
NM_019903.3:c.2005_2007del
NM_016824.3:c.2101_2103del
NP_001112.2:p.Lys669del
NP_063968.1:p.Lys669del
NP_058432.1:p.Lys701del
2/9555 0.0001 3 in_frame_indel Uncertain Significance
View 10 111893374 111893377 TAAA > - ADD3 ADD3 ADD3 NM_001121.2:c.*2_*5del
NM_019903.3:c.*2_*5del
NM_016824.3:c.*2_*5del
8/9555 0.00042 3 disruption_of_stop Uncertain Significance
View 10 123274641 123274641 C > T FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 NR_073009.1:n.1727G>A
NM_001144913.1:c.1280G>A
NM_001144914.1:c.941G>A
NM_000141.4:c.1277G>A
NM_023029.2:c.1010G>A
NM_001144919.1:c.1013G>A
NM_001144915.1:c.1010G>A
NM_001144916.1:c.932G>A
NM_001144917.1:c.939+4852G>A
NM_022970.3:c.1280G>A
NM_001144918.1:c.932G>A
NP_001138385.1:p.Arg427Lys
NP_001138386.1:p.Arg314Lys
NP_000132.3:p.Arg426Lys
NP_075418.1:p.Arg337Lys
NP_001138391.1:p.Arg338Lys
NP_001138387.1:p.Arg337Lys
NP_001138388.1:p.Arg311Lys
NP_075259.4:p.Arg427Lys
NP_001138390.1:p.Arg311Lys
2/9594 0.0001 3 non_synonymous Uncertain Significance
View 10 124812634 124812634 A > G ACADSB NM_001609.3:c.1186A>G
NP_001600.1:p.Lys396Glu
4/9594 0.00021 3 non_synonymous Uncertain Significance
Displaying 100 through 150 of 1,609 variants