Download: Excel

Chr Start Stop Change Gene(s) HGVS_C HGVS_P Sample Count CMH MAF ACMG Cat. ACMG Note Curation
View 1 227170644 227170644 A > G ADCK3 NM_020247.4:c.989A>G
NP_064632.2:p.Tyr330Cys
3/6913 0.00022 3 non_synonymous Uncertain Significance
View 1 228346406 228346406 C > T GJC2 NM_020435.3:c.947C>T
NP_065168.2:p.Pro316Leu
12/6913 0.00087 3 Uncertain Significance
View 1 228346429 228346429 G > A GJC2 NM_020435.3:c.970G>A
NP_065168.2:p.Ala324Thr
2/6913 0.00014 3 non_synonymous Uncertain Significance
View 1 228346693 228346693 C > T GJC2 NM_020435.3:c.1234C>T
NP_065168.2:p.His412Tyr
18/6913 0.0013 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
4/6913 0.00029 3 non_synonymous Uncertain Significance
View 1 237655172 237655172 G > T RYR2 NM_001035.2:c.1775G>T
NP_001026.2:p.Gly592Val
1/5308 9.0e-05 3 non_synonymous Uncertain Significance
View 1 237791239 237791239 G > A RYR2 NM_001035.2:c.6299G>A
NP_001026.2:p.Arg2100Gln
3/5308 0.00028 3 non_synonymous Uncertain Significance
View 1 237957188 237957188 C > T RYR2 NM_001035.2:c.13804C>T
NP_001026.2:p.Arg4602Ter
2/5308 0.00019 3 premature_stop Uncertain Significance
View 1 240256362 240256362 C > T FMN2 NM_020066.4:c.953C>T
NP_064450.3:p.Pro318Leu
2/5119 0.0002 3 non_synonymous Uncertain Significance
View 1 240421302 240421302 C > A FMN2 NM_020066.4:c.4123C>A
NP_064450.3:p.Leu1375Ile
6/5119 0.00059 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
2/5119 0.0002 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
3/5119 0.00029 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
3/6913 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
5/5119 0.00049 3 non_synonymous Uncertain Significance
View 10 27009232 27009232 G > A PDSS1 NM_014317.3:c.553G>A
NP_055132.2:p.Asp185Asn
1/6913 7.0e-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
2/5119 0.0002 3 non_synonymous Uncertain Significance
View 10 30630500 30630500 C > T MTPAP NM_018109.3:c.227G>A
NP_060579.3:p.Arg76Gln
2/5119 0.0002 3 non_synonymous Uncertain Significance
View 10 48382036 48382036 A > T RBP3 NM_002900.2:c.3613T>A
NP_002891.1:p.Ser1205Thr
1/5119 0.0001 3 non_synonymous Uncertain Significance
View 10 50678363 50678363 C > T ERCC6 NM_000124.3:c.3643G>A
NP_000115.1:p.Ala1215Thr
1/6913 7.0e-05 3 non_synonymous Uncertain Significance
View 10 50684346 50684346 C > A ERCC6 NM_000124.3:c.2297G>T
NP_000115.1:p.Cys766Phe
2/6913 0.00014 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
2/5119 0.0002 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
6/6913 0.00043 3 non_synonymous Uncertain Significance
View 10 73767307 73767307 C > T CHST3 NM_004273.4:c.518C>T
NP_004264.2:p.Ser173Phe
2/5211 0.00019 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
1/5119 0.0001 3 non_synonymous 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
2/5119 0.0002 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
2/5101 0.0002 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
5/5101 0.00049 3 disruption_of_stop Uncertain Significance
View 10 124812634 124812634 A > G ACADSB NM_001609.3:c.1186A>G
NP_001600.1:p.Lys396Glu
2/5119 0.0002 3 non_synonymous Uncertain Significance
View 10 135186831 135186831 C > T ECHS1 NM_004092.3:c.7G>A
NP_004083.3:p.Ala3Thr
2/5119 0.0002 3 non_synonymous Uncertain Significance
View 11 654011 654011 C > T DEAF1 NM_021008.2:c.1544G>A
NP_066288.2:p.Cys515Tyr
2/5119 0.0002 3 non_synonymous Uncertain Significance
View 11 1780857 1780857 C > A CTSD NM_001909.4:c.241G>T
NP_001900.1:p.Gly81Trp
1/6913 7.0e-05 3 non_synonymous Uncertain Significance
View 11 2610045 2610045 C > T KCNQ1 KCNQ1 NM_000218.2:c.1354C>T
NR_040711.2:n.1247C>T
NP_000209.2:p.Arg452Trp
2/5119 0.0002 3 Uncertain Significance
View 11 3846253 3846253 C > T PGAP2 PGAP2 PGAP2 PGAP2 PGAP2 PGAP2 PGAP2 PGAP2 PGAP2 PGAP2 PGAP2 PGAP2 PGAP2 PGAP2 PGAP2 PGAP2 NR_045925.1:n.460C>T
NM_001256237.1:c.779C>T
NM_014489.3:c.712C>T
NR_045929.1:n.596C>T
NR_045927.1:n.629C>T
NM_001145438.2:c.688C>T
NR_027017.2:n.1012C>T
NM_001256236.1:c.883C>T
NM_001256235.1:c.583C>T
NM_001256239.1:c.517C>T
NR_027016.2:n.480C>T
NR_045923.1:n.550C>T
NR_045926.1:n.472C>T
NM_001256240.1:c.529C>T
NR_027018.2:n.677C>T
NM_001256238.1:c.602C>T
NP_001243166.1:p.Ser260Leu
NP_055304.1:p.Arg238Cys
NP_001138910.1:p.Arg230Cys
NP_001243165.1:p.Arg295Cys
NP_001243164.1:p.Arg195Cys
NP_001243168.1:p.Arg173Cys
NP_001243169.1:p.Arg177Cys
NP_001243167.1:p.Ser201Leu
10/5119 0.00098 3 non_synonymous Uncertain Significance
View 11 4112541 4112541 C > T STIM1 STIM1 STIM1 NM_003156.3:c.1571C>T
NM_001277961.1:c.1889C>T
NM_001277962.1:c.1608C>T
NP_003147.2:p.Ser524Phe
NP_001264890.1:p.Ser630Phe
NM_001277962.1:c.1608C>T(p.=)
30/6913 0.00217 3 non_synonymous Uncertain Significance
View 11 6415259 6415259 G > A SMPD1 SMPD1 NM_001007593.2:c.1471G>A
NM_000543.4:c.1474G>A
NP_001007594.2:p.Gly491Ser
NP_000534.3:p.Gly492Ser
14/6913 0.00101 1 Uncertain Significance
View 11 6415539 6415539 C > T SMPD1 SMPD1 NM_001007593.2:c.1595C>T
NM_000543.4:c.1598C>T
NP_001007594.2:p.Pro532Leu
NP_000534.3:p.Pro533Leu
1/6913 7.0e-05 3 Uncertain Significance
View 11 6645388 6645388 T > C DCHS1 NM_003737.2:c.7519A>G
NP_003728.1:p.Thr2507Ala
3/5119 0.00029 3 non_synonymous Uncertain Significance
View 11 6651470 6651470 G > A DCHS1 NM_003737.2:c.4555C>T
NP_003728.1:p.Pro1519Ser
21/5119 0.00205 3 non_synonymous Uncertain Significance
View 11 6661299 6661299 C > T DCHS1 NM_003737.2:c.1546G>A
NP_003728.1:p.Ala516Thr
7/5119 0.00068 3 non_synonymous Uncertain Significance
View 11 6661742 6661742 C > T DCHS1 NM_003737.2:c.1103G>A
NP_003728.1:p.Ser368Asn
1/5119 0.0001 3 non_synonymous Uncertain Significance
View 11 17519789 17519789 C > T USH1C USH1C NM_153676.3:c.2410G>A
NM_005709.3:c.1510G>A
NP_710142.1:p.Ala804Thr
NP_005700.2:p.Ala504Thr
2/6913 0.00014 3 Uncertain Significance
View 11 17580151 17580151 C > T OTOG NM_001277269.1:c.1099C>T
NP_001264198.1:p.Pro367Ser
1/5110 0.0001 3 non_synonymous Uncertain Significance
View 11 17627538 17627538 C > T OTOG NM_001277269.1:c.4048C>T
NP_001264198.1:p.Arg1350Trp
3/5110 0.00029 3 non_synonymous Uncertain Significance
View 11 17632921 17632921 C > T OTOG NM_001277269.1:c.6110C>T
NP_001264198.1:p.Ala2037Val
23/5110 0.00225 3 non_synonymous Uncertain Significance
View 11 17667402 17667402 C > T OTOG NM_001277269.1:c.8689C>T
NP_001264198.1:p.Arg2897Cys
1/5110 0.0001 3 non_synonymous Uncertain Significance
View 11 18309531 18309531 C > T HPS5 HPS5 HPS5 NM_181508.1:c.2128G>A
NM_181507.1:c.2470G>A
NM_007216.3:c.2128G>A
NP_852609.1:p.Glu710Lys
NP_852608.1:p.Glu824Lys
NP_009147.3:p.Glu710Lys
2/5119 0.00029 3 non_synonymous Uncertain Significance
View 11 22301267 22301267 A > C ANO5 ANO5 NM_213599.2:c.2698A>C
NM_001142649.1:c.2695A>C
NP_998764.1:p.Met900Leu
NP_001136121.1:p.Met899Leu
24/5119 0.00234 3 Uncertain Significance
View 11 22646972 22646972 G > C FANCF NM_022725.3:c.385C>G
NP_073562.1:p.Leu129Val
5/5119 0.00049 3 non_synonymous Uncertain Significance
View 11 35327683 35327683 G > T SLC1A2 SLC1A2 SLC1A2 NM_001252652.1:c.641C>A
NM_001195728.2:c.641C>A
NM_004171.3:c.668C>A
NP_001239581.1:p.Pro214Gln
NP_001182657.1:p.Pro214Gln
NP_004162.2:p.Pro223Gln
2/5119 0.0002 3 non_synonymous Uncertain Significance
View 11 44265835 44265835 T > G EXT2 EXT2 EXT2 NM_001178083.1:c.2185T>G
NM_207122.1:c.2155T>G
NM_000401.3:c.2254T>G
NP_001171554.1:p.Ter729GlyextTer8
NP_997005.1:p.Ter719GlyextTer8
NP_000392.3:p.Ter752GlyextTer8
1/5119 0.0001 3 disruption_of_stop Uncertain Significance
Displaying 50 through 100 of 896 variants