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Chr Start Stop Change Gene(s) HGVS_C HGVS_P Sample Count CMH MAF ACMG Cat. ACMG Note Curation
View 5 125880717 125880717 G > T ALDH7A1 ALDH7A1 ALDH7A1 NM_001201377.1:c.1482-6C>A
NM_001182.4:c.1566-6C>A
NM_001202404.1:c.1455-6C>A
1/8004 6.0e-05 3 polypyrimidine_tract Uncertain Significance
View 5 131728202 131728202 T > G SLC22A5 NM_003060.3:c.1345T>G
NP_003051.1:p.Tyr449Asp
6/8223 0.00036 3 Uncertain Significance
View 5 131945093 131945093 G > A RAD50 NM_005732.3:c.3036+5G>A
16/6213 0.00129 3 Uncertain Significance
View 5 132202583 132202583 G > A UQCRQ NM_014402.4:c.10G>A
NP_055217.2:p.Glu4Lys
7/8004 0.00044 3 non_synonymous Uncertain Significance
View 5 140025247 140025247 C > - NDUFA2 NDUFA2 NDUFA2 NM_001185012.1:c.*41del
NR_033697.1:n.547del
NM_002488.4:c.225del
NP_002479.1:p.Asn76MetfsTer4
2/6213 0.00016 1 Uncertain Significance
View 5 140955835 140955835 C > T DIAPH1 DIAPH1 NM_001079812.2:c.1396G>A
NM_005219.4:c.1423G>A
NP_001073280.1:p.Glu466Lys
NP_005210.3:p.Glu475Lys
14/6213 0.00113 3 non_synonymous Uncertain Significance
View 5 145252312 145252312 G > C GRXCR2 NM_001080516.1:c.220C>G
NP_001073985.1:p.Gln74Glu
21/6213 0.00169 3 non_synonymous Uncertain Significance
View 5 161309544 161309544 T > C GABRA1 GABRA1 GABRA1 GABRA1 GABRA1 NM_001127648.1:c.560-20T>C
NM_001127643.1:c.560-20T>C
NM_000806.5:c.560-20T>C
NM_001127645.1:c.560-20T>C
NM_001127644.1:c.560-20T>C
2/6174 0.00016 3 three_prime_flank Uncertain Significance
View 5 172660191 172660191 G > A NKX2-5 NKX2-5 NKX2-5 NM_001166176.1:c.*155C>T
NM_004387.3:c.356C>T
NM_001166175.1:c.*309C>T
NP_004378.1:p.Ala119Val
1/6213 8.0e-05 3 Uncertain Significance
View 5 172662026 172662026 C > G NKX2-5 NKX2-5 NKX2-5 NM_001166176.1:c.61G>C
NM_004387.3:c.61G>C
NM_001166175.1:c.61G>C
NP_001159648.1:p.Glu21Gln
NP_004378.1:p.Glu21Gln
NP_001159647.1:p.Glu21Gln
4/6213 0.00032 3 Uncertain Significance
View 5 176722122 176722122 G > A NSD1 NSD1 NM_022455.4:c.7753G>A
NM_172349.2:c.6946G>A
NP_071900.2:p.Gly2585Arg
NP_758859.1:p.Gly2316Arg
2/6865 0.00015 3 non_synonymous Uncertain Significance
View 5 177580652 177580652 G > A NHP2 NHP2 NM_017838.3:c.160+7C>T
NM_001034833.1:c.160+7C>T
2/6213 0.00016 3 five_prime_intronic Uncertain Significance
View 6 5545481 5545481 G > A FARS2 NM_006567.3:c.973G>A
NP_006558.1:p.Asp325Asn
1/6213 8.0e-05 3 Uncertain Significance
View 6 10404967 10404967 C > T TFAP2A TFAP2A TFAP2A NM_001032280.2:c.520G>A
NM_001042425.1:c.526G>A
NM_003220.2:c.538G>A
NP_001027451.1:p.Val174Met
NP_001035890.1:p.Val176Met
NP_003211.1:p.Val180Met
1/6213 8.0e-05 3 non_synonymous Uncertain Significance
View 6 12294621 12294621 C > A EDN1 EDN1 NM_001168319.1:c.514C>A
NM_001955.4:c.517C>A
NP_001161791.1:p.His172Asn
NP_001946.3:p.His173Asn
2/6213 0.00016 3 non_synonymous Uncertain Significance
View 6 24520719 24520719 G > A ALDH5A1 ALDH5A1 NM_001080.3:c.961G>A
NM_170740.1:c.1000G>A
NP_001071.1:p.Val321Met
NP_733936.1:p.Val334Met
102/8223 0.0062 3 non_synonymous Uncertain Significance
View 6 24533753 24533753 A > C ALDH5A1 ALDH5A1 NM_001080.3:c.1421A>C
NM_170740.1:c.1460A>C
NP_001071.1:p.Asp474Ala
NP_733936.1:p.Asp487Ala
4/8223 0.00024 3 non_synonymous Uncertain Significance
View 6 24533806 24533806 G > A ALDH5A1 ALDH5A1 NM_001080.3:c.1474G>A
NM_170740.1:c.1513G>A
NP_001071.1:p.Val492Ile
NP_733936.1:p.Val505Ile
4/8223 0.00024 3 non_synonymous Uncertain Significance
View 6 30889393 30889393 C > T VARS2 VARS2 VARS2 NM_001167733.1:c.1240C>T
NM_020442.4:c.1660C>T
NM_001167734.1:c.1750C>T
NP_001161205.1:p.Arg414Trp
NP_065175.4:p.Arg554Trp
NP_001161206.1:p.Arg584Trp
2/6213 0.00016 3 non_synonymous Uncertain Significance
View 6 30892215 30892215 C > T VARS2 VARS2 VARS2 NM_001167733.1:c.2131C>T
NM_020442.4:c.2551C>T
NM_001167734.1:c.2641C>T
NP_001161205.1:p.Arg711Cys
NP_065175.4:p.Arg851Cys
NP_001161206.1:p.Arg881Cys
9/6213 0.00072 3 non_synonymous Uncertain Significance
View 6 30893054 30893054 C > T VARS2 VARS2 VARS2 NM_001167733.1:c.2257C>T
NM_020442.4:c.2677C>T
NM_001167734.1:c.2767C>T
NP_001161205.1:p.His753Tyr
NP_065175.4:p.His893Tyr
NP_001161206.1:p.His923Tyr
3/6213 0.00024 3 non_synonymous Uncertain Significance
View 6 31929813 31929813 C > A SKIV2L NM_006929.4:c.1046C>A
NP_008860.4:p.Ala349Asp
1/6213 8.0e-05 3 non_synonymous Uncertain Significance
View 6 32052414 32052414 G > T TNXB NM_019105.6:c.3221C>A
NP_061978.6:p.Thr1074Asn
2/6213 0.00016 3 non_synonymous Uncertain Significance
View 6 32064529 32064529 G > C TNXB NM_019105.6:c.1101C>G
NP_061978.6:p.Asp367Glu
2/6213 0.00016 3 non_synonymous Uncertain Significance
View 6 33143432 33143432 C > A COL11A2 COL11A2 COL11A2 NM_080681.2:c.2037G>T
NM_080680.2:c.2295G>T
NM_080679.2:c.1974G>T
NP_542412.2:p.Arg679Ser
NP_542411.2:p.Arg765Ser
NP_542410.2:p.Arg658Ser
1/6213 8.0e-05 3 non_synonymous Uncertain Significance
View 6 33152761 33152761 A > G COL11A2 COL11A2 COL11A2 NM_080681.2:c.861+8T>C
NM_080680.2:c.939+8T>C
NM_080679.2:c.798+1643T>C
2/6213 0.00016 3 five_prime_intronic Uncertain Significance
View 6 42941790 42941790 T > C PEX6 NM_000287.3:c.1081A>G
NP_000278.3:p.Thr361Ala
1/6213 8.0e-05 3 non_synonymous Uncertain Significance
View 6 43005647 43005647 G > C CUL7 CUL7 NM_014780.4:c.4876C>G
NM_001168370.1:c.5128C>G
NP_055595.2:p.Leu1626Val
NP_001161842.1:p.Leu1710Val
2/6213 0.00016 3 non_synonymous Uncertain Significance
View 6 43010695 43010695 G > A CUL7 CUL7 NM_014780.4:c.3490C>T
NM_001168370.1:c.3742C>T
NP_055595.2:p.Arg1164Trp
NP_001161842.1:p.Arg1248Trp
9/6213 0.00072 3 non_synonymous Uncertain Significance
View 6 44268392 44268392 C > A AARS2 ENST00000244571.4:c.2850G>T
ENSP00000244571.4:p.Met950Ile
2/6213 0.00016 3 non_synonymous Uncertain Significance
View 6 44268985 44268985 G > A AARS2 ENST00000244571.4:c.2701C>T
ENSP00000244571.4:p.Arg901Trp
2/6213 0.00016 3 non_synonymous Uncertain Significance
View 6 44278106 44278106 G > A AARS2 ENST00000244571.4:c.824C>T
ENSP00000244571.4:p.Ala275Val
2/6213 0.00016 3 non_synonymous Uncertain Significance
View 6 49423826 49423826 T > C MUT NM_000255.3:c.878A>G
NP_000246.2:p.Gln293Arg
7/8004 0.00044 3 Uncertain Significance
View 6 49423923 49423923 T > C MUT NM_000255.3:c.781A>G
NP_000246.2:p.Ile261Val
2/8004 0.00012 3 non_synonymous Uncertain Significance
View 6 49426975 49426975 T > C MUT NM_000255.3:c.205A>G
NP_000246.2:p.Ile69Val
49/8004 0.00306 3 Uncertain Significance
View 6 51613152 51613152 C > T PKHD1 PKHD1 NM_138694.3:c.9262G>A
NM_170724.2:c.9262G>A
NP_619639.3:p.Asp3088Asn
NP_733842.2:p.Asp3088Asn
5/8004 0.00031 3 non_synonymous Uncertain Significance
View 6 51768795 51768795 C > T PKHD1 PKHD1 NM_138694.3:c.6854G>A
NM_170724.2:c.6854G>A
NP_619639.3:p.Gly2285Glu
NP_733842.2:p.Gly2285Glu
21/8004 0.00131 3 Uncertain Significance
View 6 51776625 51776625 A > C PKHD1 PKHD1 NM_138694.3:c.6462T>G
NM_170724.2:c.6462T>G
NP_619639.3:p.Val2154=
NP_733842.2:p.Val2154=
1/8004 6.0e-05 3 Uncertain Significance
View 6 51900495 51900495 C > T PKHD1 PKHD1 NM_138694.3:c.3122G>A
NM_170724.2:c.3122G>A
NP_619639.3:p.Gly1041Asp
NP_733842.2:p.Gly1041Asp
1/8004 6.0e-05 3 non_synonymous Uncertain Significance
View 6 56507565 56507565 A > - DST DST DST DST DST NM_001144769.2:c.1680-264del
NM_001144770.1:c.1266-264del
NM_001723.5:c.22del
NM_183380.3:c.1146-264del
NM_015548.4:c.22del
NP_001714.1:p.Tyr8ThrfsTer33
NP_056363.2:p.Tyr8ThrfsTer33
7/6213 0.00056 2 frameshift Uncertain Significance
View 6 70944597 70944597 C > T COL9A1 COL9A1 NM_078485.3:c.1430G>A
NM_001851.4:c.2159G>A
NP_511040.2:p.Arg477Gln
NP_001842.3:p.Arg720Gln
4/6213 0.00032 3 non_synonymous Uncertain Significance
View 6 73904881 73904881 G > A KCNQ5 KCNQ5 KCNQ5 KCNQ5 KCNQ5 NM_001160133.1:c.2600G>A
NM_001160134.1:c.2213G>A
NM_001160130.1:c.2516G>A
NM_001160132.1:c.2573G>A
NM_019842.3:c.2543G>A
NP_001153605.1:p.Gly867Glu
NP_001153606.1:p.Gly738Glu
NP_001153602.1:p.Gly839Glu
NP_001153604.1:p.Gly858Glu
NP_062816.2:p.Gly848Glu
2/6213 0.00016 3 non_synonymous Uncertain Significance
View 6 74310100 74310100 C > T SLC17A5 NM_012434.4:c.1324G>A
NP_036566.1:p.Val442Ile
10/8004 0.00062 3 non_synonymous Uncertain Significance
View 6 74331606 74331606 G > A SLC17A5 NM_012434.4:c.899C>T
NP_036566.1:p.Ser300Phe
34/8004 0.00212 3 non_synonymous Uncertain Significance
View 6 80635908 80635908 T > C ELOVL4 NM_022726.3:c.288+3A>G
2/6213 0.00016 3 five_prime_flank Uncertain Significance
View 6 83881667 83881667 G > T PGM3 PGM3 PGM3 PGM3 NM_001199917.1:c.1438C>A
NM_001199919.1:c.1354C>A
NM_015599.2:c.1354C>A
NM_001199918.1:c.1111C>A
NP_001186846.1:p.Leu480Ile
NP_001186848.1:p.Leu452Ile
NP_056414.1:p.Leu452Ile
NP_001186847.1:p.Leu371Ile
9/6213 0.00072 3 non_synonymous Uncertain Significance
View 6 88187196 88187196 A > G SLC35A1 SLC35A1 NM_006416.4:c.133A>G
NM_001168398.1:c.133A>G
NP_006407.1:p.Thr45Ala
NP_001161870.1:p.Thr45Ala
47/8004 0.00294 3 non_synonymous Uncertain Significance
View 6 97345677 97345677 T > C NDUFAF4 NM_014165.3:c.1A>G
NP_054884.1:p.Met1?
3/8004 0.00019 3 loss_of_initiation Uncertain Significance
View 6 117245882 117245882 A > G RFX6 NM_173560.3:c.1606A>G
NP_775831.2:p.Met536Val
1/6213 8.0e-05 3 non_synonymous Uncertain Significance
View 6 129470136 129470136 G > A LAMA2 ENST00000421865.2:c.922G>A
ENSP00000400365.2:p.Glu308Lys
32/8004 0.002 3 non_synonymous Uncertain Significance
Displaying 800 through 850 of 1,072 variants