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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 981353 981353 C > T AGRN NM_198576.3:c.2690C>T
NP_940978.2:p.Ala897Val
18/4281 0.0021 3 non_synonymous Uncertain Significance
View 1 1960633 1960633 G > A GABRD NM_000815.4:c.775G>A
NP_000806.2:p.Val259Ile
5/4281 0.00058 3 non_synonymous Uncertain Significance
View 1 2235762 2235762 C > T SKI NM_003036.3:c.1505C>T
NP_003027.1:p.Pro502Leu
1/4281 0.00012 3 non_synonymous Uncertain Significance
View 1 3301830 3301830 A > G PRDM16 NM_022114.3:c.553A>G
NM_199454.2:c.553A>G
NP_071397.3:p.Met185Val
NP_955533.2:p.Met185Val
2/4281 0.00023 3 non_synonymous Uncertain Significance
View 1 6529605 6529605 A > G PLEKHG5 NM_001265593.1:c.2139T>C
NM_001265592.1:c.2169T>C
NM_001042665.1:c.1932T>C
NM_001042664.1:c.1932T>C
NM_020631.4:c.1932T>C
NM_198681.3:c.2163T>C
NM_001042663.1:c.2100T>C
NM_001265594.1:c.1932T>C
NM_001265593.1:c.2139T>C(p.%3D)
NM_001265592.1:c.2169T>C(p.%3D)
NM_001042665.1:c.1932T>C(p.%3D)
NM_001042664.1:c.1932T>C(p.%3D)
NM_020631.4:c.1932T>C(p.%3D)
NM_198681.3:c.2163T>C(p.%3D)
NM_001042663.1:c.2100T>C(p.%3D)
NM_001265594.1:c.1932T>C(p.%3D)
7/6075 0.00058 3 five_prime_exonic Uncertain Significance
View 1 22181472 22181472 C > T TRNAN-GUU HSPG2 NM_005529.5:c.6002G>A
NP_005520.4:p.Arg2001Gln
2/6075 0.00016 3 non_synonymous Uncertain Significance
View 1 27930145 27930145 T > C TRNAN-GUU 1/2651 0.00019 4 intronic Uncertain Significance
View 1 38006125 38006125 G > A TRNAN-GUU SNIP1 NM_024700.3:c.559C>T
NP_078976.2:p.Arg187Trp
1/4281 0.00012 3 non_synonymous Uncertain Significance
View 1 40539750 40539750 T > C TRNAN-GUU PPT1 NM_000310.3:c.904A>G
NM_001142604.1:c.595A>G
NP_000301.1:p.Ile302Val
NP_001136076.1:p.Ile199Val
11/6075 0.00091 3 non_synonymous Uncertain Significance
View 1 40770513 40770513 G > A TRNAN-GUU COL9A2 NM_001852.3:c.1114C>T
NP_001843.1:p.Pro372Ser
2/4281 0.00023 3 non_synonymous Uncertain Significance
View 1 40782845 40782845 G > C TRNAN-GUU COL9A2 NM_001852.3:c.25C>G
NP_001843.1:p.Arg9Gly
1/4281 0.00012 3 non_synonymous Uncertain Significance
View 1 43880870 43880870 G > A TRNAN-GUU SZT2 NM_015284.3:c.616G>A
NP_056099.3:p.Asp206Asn
1/4272 0.00012 3 non_synonymous Uncertain Significance
View 1 43896304 43896304 G > A TRNAN-GUU SZT2 NM_015284.3:c.4447G>A
NP_056099.3:p.Asp1483Asn
2/4281 0.00023 3 non_synonymous Uncertain Significance
View 1 45974002 45974002 G > A TRNAN-GUU MMACHC NM_015506.2:c.395G>A
NP_056321.2:p.Arg132Gln
3/6075 0.00025 3 non_synonymous Uncertain Significance
View 1 53675699 53675699 A > G TRNAN-GUU CPT2 NM_000098.2:c.353A>G
NP_000089.1:p.Asp118Gly
21/6075 0.00173 3 non_synonymous Uncertain Significance
View 1 91403435 91403435 G > A TRNAN-GUU ZNF644 NM_016620.3:c.23-19724C>T
NM_201269.2:c.3295C>T
NM_032186.4:c.23-19724C>T
NP_958357.1:p.Arg1099Cys
3/4281 0.00035 3 non_synonymous Uncertain Significance
View 1 100573386 100573386 C > A TRNAN-GUU SASS6 NM_194292.1:c.1036G>T
NP_919268.1:p.Asp346Tyr
1/4281 0.00012 3 non_synonymous Uncertain Significance
View 1 110170697 110170697 C > A AMPD2 TRNAN-GUU NM_139156.3:c.1000-8C>A
NM_001257360.1:c.1243-8C>A
NM_004037.7:c.1243-8C>A
NM_001257361.1:c.889-8C>A
NM_203404.1:c.886-8C>A
2/4281 0.00023 3 polypyrimidine_tract Uncertain Significance
View 1 154573889 154573889 T > C ADAR NM_001025107.2:c.344A>G
ENST00000529168.1:c.1214A>G
ENST00000368474.4:c.1229A>G
NM_001193495.1:c.344A>G
NP_001020278.1:p.Glu115Gly
ENSP00000431794.1:p.Glu405Gly
ENSP00000357459.4:p.Glu410Gly
NP_001180424.1:p.Glu115Gly
2/4281 0.00023 3 non_synonymous Uncertain Significance
View 1 155261649 155261649 C > T PKLR NM_181871.3:c.1423G>A
NM_000298.5:c.1516G>A
NP_870986.1:p.Val475Ile
NP_000289.1:p.Val506Ile
72/6075 0.00593 3 Uncertain Significance
View 1 156108453 156108453 A > C LMNA NM_170708.3:c.1783A>C
NM_170707.3:c.1873A>C
NM_001257374.1:c.1537A>C
NP_733822.1:p.Ser595Arg
NP_733821.1:p.Ser625Arg
NP_001244303.1:p.Ser513Arg
2/4933 0.0002 3 non_synonymous Uncertain Significance
View 1 156108454 156108454 G > C LMNA NM_170708.3:c.1784G>C
NM_170707.3:c.1874G>C
NM_001257374.1:c.1538G>C
NP_733822.1:p.Ser595Thr
NP_733821.1:p.Ser625Thr
NP_001244303.1:p.Ser513Thr
2/4933 0.0002 3 non_synonymous Uncertain Significance
View 1 161179934 161179934 C > A NDUFS2 NM_001166159.1:c.736C>A
NM_004550.4:c.736C>A
NP_001159631.1:p.Gln246Lys
NP_004541.1:p.Gln246Lys
1/4281 0.00012 3 non_synonymous Uncertain Significance
View 1 182354983 182354983 C > G 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
1/4281 0.00012 3 non_synonymous Uncertain Significance
View 1 201328373 201328373 G > A 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
10/4281 0.00117 3 Uncertain Significance
View 1 214820265 214820265 A > G CENPF NM_016343.3:c.7352A>G
NP_057427.3:p.Asn2451Ser
2/4281 0.00023 3 non_synonymous Uncertain Significance
View 1 220279317 220279317 T > C IARS2 NM_018060.3:c.1151T>C
NP_060530.3:p.Met384Thr
3/4281 0.00035 3 non_synonymous Uncertain Significance
View 1 220355619 220355619 G > A RAB3GAP2 NM_012414.3:c.2290C>T
NP_036546.2:p.Leu764Phe
19/6075 0.00156 3 non_synonymous Uncertain Significance
View 1 227170644 227170644 A > G ADCK3 NM_020247.4:c.989A>G
NP_064632.2:p.Tyr330Cys
3/6075 0.00025 3 non_synonymous Uncertain Significance
View 1 228346406 228346406 C > T GJC2 NM_020435.3:c.947C>T
NP_065168.2:p.Pro316Leu
12/6075 0.00099 3 Uncertain Significance
View 1 235577815 235577815 A > G TBCE NM_003193.3:c.253A>G
NM_001079515.1:c.253A>G
NP_003184.1:p.Ile85Val
NP_001072983.1:p.Ile85Val
4/6075 0.00033 3 non_synonymous Uncertain Significance
View 1 237655172 237655172 G > T RYR2 NM_001035.2:c.1775G>T
NP_001026.2:p.Gly592Val
1/4470 0.00011 3 non_synonymous Uncertain Significance
View 1 237791239 237791239 G > A RYR2 NM_001035.2:c.6299G>A
NP_001026.2:p.Arg2100Gln
3/4470 0.00034 3 non_synonymous Uncertain Significance
View 1 237957188 237957188 C > T RYR2 NM_001035.2:c.13804C>T
NP_001026.2:p.Arg4602Ter
2/4470 0.00022 3 premature_stop Uncertain Significance
View 1 240421302 240421302 C > A FMN2 NM_020066.4:c.4123C>A
NP_064450.3:p.Leu1375Ile
6/4281 0.0007 3 non_synonymous Uncertain Significance
View 1 244217383 244217383 A > T 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
2/4281 0.00023 3 non_synonymous Uncertain Significance
View 10 14950747 14950747 G > A 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
3/6075 0.00025 3 non_synonymous Uncertain Significance
View 10 27009232 27009232 G > A PDSS1 NM_014317.3:c.553G>A
NP_055132.2:p.Asp185Asn
1/6075 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
2/4281 0.00023 3 non_synonymous Uncertain Significance
View 10 48382036 48382036 A > T RBP3 NM_002900.2:c.3613T>A
NP_002891.1:p.Ser1205Thr
1/4281 0.00012 3 non_synonymous Uncertain Significance
View 10 50678363 50678363 C > T ERCC6 NM_000124.3:c.3643G>A
NP_000115.1:p.Ala1215Thr
1/6075 8.0e-05 3 non_synonymous Uncertain Significance
View 10 50684346 50684346 C > A ERCC6 NM_000124.3:c.2297G>T
NP_000115.1:p.Cys766Phe
2/6075 0.00016 3 non_synonymous Uncertain Significance
View 10 61905727 61905727 T > C ANK3 NM_001204404.1:c.2616A>G
NM_001204403.1:c.2597-6882A>G
NM_020987.3:c.2615-6882A>G
NM_001204404.1:c.2616A>G(p.%3D)
45/4281 0.00526 3 five_prime_exonic Uncertain Significance
View 10 61962857 61962857 G > A 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
2/4281 0.00023 3 non_synonymous Uncertain Significance
View 10 76729526 76729526 G > A 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
1/4281 0.00012 3 non_synonymous Uncertain Significance
View 10 97371177 97371177 T > C ALDH18A1 NM_001017423.1:c.1940A>G
NM_002860.3:c.1946A>G
NP_001017423.1:p.Lys647Arg
NP_002851.2:p.Lys649Arg
2/4281 0.00023 3 non_synonymous Uncertain Significance
View 10 111893356 111893358 AAG > - 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
2/4281 0.00023 3 in_frame_indel Uncertain Significance
View 10 135186831 135186831 C > T ECHS1 NM_004092.3:c.7G>A
NP_004083.3:p.Ala3Thr
1/4281 0.00012 3 non_synonymous Uncertain Significance
View 11 654011 654011 C > T DEAF1 NM_021008.2:c.1544G>A
NP_066288.2:p.Cys515Tyr
2/4281 0.00023 3 non_synonymous Uncertain Significance
View 11 1780857 1780857 C > A CTSD NM_001909.4:c.241G>T
NP_001900.1:p.Gly81Trp
1/6075 8.0e-05 3 non_synonymous Uncertain Significance
Displaying 1 through 50 of 581 variants