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Chr Start Stop Change Gene(s) HGVS_C HGVS_P Sample Count CMH MAF ACMG Cat. ACMG Note Curation
View 3 176750839 176750839 A > C TBL1XR1 NM_024665.4:c.1336T>G
NP_078941.2:p.Tyr446Asp
1/13144 4.0e-05 1 curation Pathogenic
View 3 182759467 182759467 T > G MCCC1 NM_020166.3:c.1155A>C
NP_064551.3:p.Arg385Ser
4/13144 0.00015 1 Pathogenic
View 3 182763310 182763310 A > C MCCC1 NM_020166.3:c.974T>G
NP_064551.3:p.Met325Arg
3/13144 0.00011 1 Pathogenic
View 3 182810333 182810333 C > T MCCC1 NM_020166.3:c.137G>A
NP_064551.3:p.Gly46Glu
6/13144 0.00023 1 Pathogenic
View 3 183855425 183855425 G > A EIF2B5 NM_003907.2:c.338G>A
NP_003898.2:p.Arg113His
13/13144 0.00049 1 Pathogenic
View 3 186953662 186953662 C > T MASP1 MASP1 MASP1 NM_139125.3:c.1997G>A
NR_033519.1:n.2155G>A
NM_001879.5:c.1303+5607G>A
NP_624302.1:p.Gly666Glu
2/13105 8.0e-05 1 Pathogenic
View 3 193409850 193409853 AGAG > - OPA1 OPA1 OPA1 OPA1 OPA1 OPA1 OPA1 OPA1 NM_130837.2:c.2984-1_2986del
NM_015560.2:c.2819-1_2821del
NM_130836.2:c.2930-1_2932del
NM_130835.2:c.2876-1_2878del
NM_130834.2:c.2873-1_2875del
NM_130833.2:c.2822-1_2824del
NM_130832.2:c.2765-1_2767del
NM_130831.2:c.2711-1_2713del
2/13144 8.0e-05 1 Pathogenic
View 4 996535 996535 G > A IDUA NM_000203.3:c.1205G>A
NP_000194.2:p.Trp402Ter
26/14969 0.0009 1 Pathogenic
View 4 998080 998080 C > T IDUA NM_000203.3:c.1861C>T
NP_000194.2:p.Arg621Ter
4/14969 0.00013 1 Pathogenic
View 4 1803571 1803571 C > T FGFR3 FGFR3 FGFR3 ENST00000412135.2:c.749C>T
ENST00000340107.4:c.749C>T
ENST00000440486.2:c.749C>T
ENSP00000412903.2:p.Pro250Leu
ENSP00000339824.4:p.Pro250Leu
ENSP00000414914.2:p.Pro250Leu
1/13144 4.0e-05 1 Pathogenic
View 4 1803571 1803571 C > G FGFR3 FGFR3 FGFR3 ENST00000412135.2:c.749C>G
ENST00000340107.4:c.749C>G
ENST00000440486.2:c.749C>G
ENSP00000412903.2:p.Pro250Arg
ENSP00000339824.4:p.Pro250Arg
ENSP00000414914.2:p.Pro250Arg
1/13144 4.0e-05 1 Pathogenic
View 4 1806119 1806119 G > A FGFR3 FGFR3 FGFR3 ENST00000412135.2:c.931-432G>A
ENST00000340107.4:c.1144G>A
ENST00000440486.2:c.1138G>A
ENSP00000339824.4:p.Gly382Arg
ENSP00000414914.2:p.Gly380Arg
2/13144 8.0e-05 1 Pathogenic
View 4 3494833 3494834 - > GCCT DOK7 DOK7 DOK7 ENST00000507039.1:c.*345_*348dupTGCC
NM_001256896.1:c.194_197dupTGCC
ENST00000340083.5:c.1124_1127dupTGCC
NP_001243825.1:p.Ala68SerfsTer30
ENSP00000344432.5:p.Ala378SerfsTer30
27/13843 0.00101 1 Pathogenic
View 4 3494969 3494970 - > C DOK7 DOK7 DOK7 ENST00000507039.1:c.*484dupC
NM_001256896.1:c.333dupC
ENST00000340083.5:c.1263dupC
NP_001243825.1:p.Ser112LeufsTer97
ENSP00000344432.5:p.Ser422LeufsTer97
9/13843 0.00033 1 Pathogenic
View 4 6293017 6293017 G > A WFS1 WFS1 NM_006005.3:c.554G>A
NM_001145853.1:c.554G>A
NP_005996.2:p.Trp185Ter
NP_001139325.1:p.Trp185Ter
3/13144 0.00015 1 Pathogenic
View 4 6303195 6303195 G > A WFS1 WFS1 NM_006005.3:c.1673G>A
NM_001145853.1:c.1673G>A
NP_005996.2:p.Arg558His
NP_001139325.1:p.Arg558His
3/13144 0.00011 1 Pathogenic
View 4 39274649 39274649 G > A WDR19 NM_025132.3:c.3533G>A
NP_079408.3:p.Arg1178Gln
2/13144 8.0e-05 1 Pathogenic
View 4 41748010 41748047 del > - PHOX2B NM_003924.3:c.722_759del
NP_003915.2:p.Ala241GlyfsTer106
1/13144 4.0e-05 2 frameshift Pathogenic
View 4 72332248 72332248 A > T SLC4A4 SLC4A4 SLC4A4 ENST00000264485.5:c.1585A>T
ENST00000340595.3:c.1453A>T
ENST00000425175.1:c.1585A>T
ENSP00000264485.5:p.Thr529Ser
ENSP00000344272.3:p.Thr485Ser
ENSP00000393557.1:p.Thr529Ser
1/13144 8.0e-05 1 Pathogenic
View 4 79285209 79285209 G > A FRAS1 FRAS1 NM_001166133.1:c.2722+1G>A
NM_025074.6:c.2722+1G>A
1/13810 4.0e-05 1 Pathogenic
View 4 79394620 79394620 T > A FRAS1 NM_025074.6:c.7551T>A
NP_079350.5:p.Tyr2517Ter
4/14969 0.00013 1 Pathogenic
View 4 79455625 79455625 C > T FRAS1 NM_025074.6:c.10948C>T
NP_079350.5:p.Gln3650Ter
1/14969 3.0e-05 1 Pathogenic
View 4 84206019 84206020 - > G COQ2 NM_015697.7:c.48dupC
NP_056512.5:p.Ala17ArgfsTer76
3/15408 0.0001 1 curation Pathogenic
View 4 108816857 108816857 C > T SGMS2 SGMS2 SGMS2 NM_001136258.1:c.148C>T
NM_001136257.1:c.148C>T
NM_152621.5:c.148C>T
NP_001129730.1:p.Arg50Ter
NP_001129729.1:p.Arg50Ter
NP_689834.1:p.Arg50Ter
2/13105 8.0e-05 1 ClinVar pathogenic variant Pathogenic
View 4 122775862 122775865 CTCT > - BBS7 BBS7 NM_176824.2:c.712_715del
NM_018190.3:c.712_715del
NP_789794.1:p.Arg238GlufsTer59
NP_060660.2:p.Arg238GlufsTer59
2/13144 8.0e-05 1 Pathogenic
View 4 123664161 123664162 TT > - BBS12 BBS12 NM_152618.2:c.1115_1116del
NM_001178007.1:c.1115_1116del
NP_689831.2:p.Phe372Ter
NP_001171478.1:p.Phe372Ter
2/13144 8.0e-05 1 Pathogenic
View 4 140262203 140262203 C > T NAA15 NM_057175.3:c.382C>T
NP_476516.1:p.Arg128Ter
1/13144 4.0e-05 1 curation Pathogenic
View 4 146560724 146560724 C > T MMAA NM_172250.2:c.433C>T
NP_758454.1:p.Arg145Ter
14/14969 0.00047 1 Pathogenic
View 4 159601741 159601741 A > T ETFDH NM_004453.2:c.157A>T
NP_004444.2:p.Lys53Ter
1/14969 3.0e-05 1 curation Pathogenic
View 4 159603421 159603421 G > A ETFDH NM_004453.2:c.250G>A
NP_004444.2:p.Ala84Thr
2/14969 7.0e-05 1 Pathogenic
View 4 159605800 159605800 C > G ETFDH NM_004453.2:c.462C>G
NP_004444.2:p.Tyr154Ter
2/14969 7.0e-05 1 ClinVar pathogenic variant Pathogenic
View 4 159627422 159627422 C > T ETFDH NM_004453.2:c.1367C>T
NP_004444.2:p.Pro456Leu
1/14969 3.0e-05 1 curation Pathogenic
View 4 159629598 159629599 AT > - ETFDH NM_004453.2:c.1773_1774del
NP_004444.2:p.Cys592Ter
1/14969 3.0e-05 1 Pathogenic
View 5 223624 223624 C > T SDHA NM_004168.2:c.91C>T
NP_004159.2:p.Arg31Ter
4/13144 0.00015 1 Pathogenic
View 5 1212453 1212453 G > A SLC6A19 NM_001003841.2:c.517G>A
NP_001003841.1:p.Asp173Asn
78/13144 0.00297 1 Pathogenic
View 5 1213639 1213639 T > C SLC6A19 NM_001003841.2:c.725T>C
NP_001003841.1:p.Leu242Pro
3/13144 0.00011 1 Pathogenic
View 5 37226913 37226913 A > C CPLANE1 NM_023073.3:c.1784T>G
NP_075561.3:p.Leu595Ter
6/13144 0.00023 1 Pathogenic
View 5 37244554 37244554 T > - CPLANE1 NM_023073.3:c.493del
NP_075561.3:p.Ile165TyrfsTer17
5/13144 0.00019 1 Pathogenic
View 5 60839983 60839983 C > T ZSWIM6 NM_020928.1:c.3487C>T
NP_065979.1:p.Arg1163Trp
1/13144 4.0e-05 1 Pathogenic
View 5 74014629 74014629 C > T HEXB ENST00000261416.7:c.1250C>T
ENSP00000261416.7:p.Pro417Leu
36/14969 0.0012 1 Pathogenic
View 5 78280857 78280857 A > T ARSB ARSB NM_198709.2:c.215T>A
NM_000046.3:c.215T>A
NP_942002.1:p.Leu72Gln
NP_000037.2:p.Leu72Gln
1/14969 3.0e-05 1 Pathogenic
View 5 125887751 125887751 C > G ALDH7A1 ALDH7A1 ALDH7A1 NM_001201377.1:c.1195G>C
NM_001182.4:c.1279G>C
NM_001202404.1:c.1168G>C
NP_001188306.1:p.Glu399Gln
NP_001173.2:p.Glu427Gln
NP_001189333.1:p.Glu390Gln
9/15408 0.00029 1 Pathogenic
View 5 125896786 125896787 TT > - ALDH7A1 ALDH7A1 ALDH7A1 NM_001201377.1:c.817_818del
NM_001182.4:c.901_902del
NM_001202404.1:c.982_983del
NP_001188306.1:p.Asn273CysfsTer6
NP_001173.2:p.Asn301CysfsTer6
NP_001189333.1:p.Asn328CysfsTer6
1/14969 3.0e-05 1 Pathogenic
View 5 125919689 125919689 G > A ALDH7A1 ALDH7A1 ALDH7A1 NM_001201377.1:c.244C>T
NM_001182.4:c.328C>T
NM_001202404.1:c.409C>T
NP_001188306.1:p.Arg82Ter
NP_001173.2:p.Arg110Ter
NP_001189333.1:p.Arg137Ter
1/15408 3.0e-05 1 Pathogenic
View 5 125930857 125930857 C > - ALDH7A1 ALDH7A1 ALDH7A1 NM_001201377.1:c.-51del
NM_001182.4:c.34del
NM_001202404.1:c.115del
NP_001173.2:p.Ala12LeufsTer31
NP_001189333.1:p.Ala39LeufsTer31
5/15408 0.00016 2 frameshift Pathogenic
View 5 131705516 131705516 G > A MIR3936HG SLC22A5 NR_037898.1:n.73+20C>T
NM_003060.3:c.-149G>A
68/14218 0.00239 1 curation Pathogenic
View 5 131705800 131705800 C > T SLC22A5 NM_003060.3:c.136C>T
NP_003051.1:p.Pro46Ser
27/15408 0.00088 1 Pathogenic
View 5 131726522 131726522 C > T SLC22A5 NM_003060.3:c.1193C>T
NP_003051.1:p.Pro398Leu
7/15597 0.00022 1 Pathogenic
View 5 131728266 131728266 C > T SLC22A5 NM_003060.3:c.1409C>T
NP_003051.1:p.Ser470Phe
1/15408 6.0e-05 1 Pathogenic
View 5 136963994 136963994 C > T KLHL3 KLHL3 KLHL3 NM_017415.2:c.1583G>A
NM_001257195.1:c.1337G>A
NM_001257194.1:c.1487G>A
NP_059111.2:p.Arg528His
NP_001244124.1:p.Arg446His
NP_001244123.1:p.Arg496His
1/13144 4.0e-05 1 Pathogenic
Displaying 500 through 550 of 878 variants