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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 183855425 183855425 G > A EIF2B5 NM_003907.2:c.338G>A
NP_003898.2:p.Arg113His
3/5119 0.00029 1 Pathogenic
View 4 79285209 79285209 G > A FRAS1 NM_001166133.1:c.2722+1G>A
NM_025074.6:c.2722+1G>A
1/6913 7.0e-05 1 Pathogenic
View 4 79394620 79394620 T > A FRAS1 NM_025074.6:c.7551T>A
NP_079350.5:p.Tyr2517Ter
2/6913 0.00014 1 Pathogenic
View 4 79455625 79455625 C > T FRAS1 NM_025074.6:c.10948C>T
NP_079350.5:p.Gln3650Ter
1/6913 7.0e-05 2 premature_stop Pathogenic
View 4 84206019 84206020 - > G COQ2 NM_015697.7:c.48dupC
NP_056512.5:p.Ala17ArgfsTer76
3/7003 0.00021 1 frameshift Pathogenic
View 4 122775862 122775865 CTCT > - BBS7 NM_176824.2:c.712_715del
NM_018190.3:c.712_715del
NP_789794.1:p.Arg238GlufsTer59
NP_060660.2:p.Arg238GlufsTer59
2/5119 0.0002 1 Pathogenic
View 4 123664161 123664162 TT > - BBS12 NM_152618.2:c.1115_1116del
NM_001178007.1:c.1115_1116del
NP_689831.2:p.Phe372Ter
NP_001171478.1:p.Phe372Ter
2/5119 0.0002 1 Pathogenic
View 4 159601741 159601741 A > T ETFDH NM_004453.2:c.157A>T
NP_004444.2:p.Lys53Ter
1/6913 7.0e-05 1 premature_stop Pathogenic
View 4 159603421 159603421 G > A ETFDH NM_004453.2:c.250G>A
NP_004444.2:p.Ala84Thr
2/6913 0.00014 1 Pathogenic
View 4 159605800 159605800 C > G ETFDH NM_004453.2:c.462C>G
NP_004444.2:p.Tyr154Ter
1/6913 7.0e-05 2 premature_stop Pathogenic
View 4 159627422 159627422 C > T ETFDH NM_004453.2:c.1367C>T
NP_004444.2:p.Pro456Leu
1/6913 7.0e-05 1 Pathogenic
View 4 159629598 159629599 AT > - ETFDH NM_004453.2:c.1773_1774del
NP_004444.2:p.Cys592Ter
1/6913 7.0e-05 1 Pathogenic
View 5 78280857 78280857 A > T ARSB NM_198709.2:c.215T>A
NM_000046.3:c.215T>A
NP_942002.1:p.Leu72Gln
NP_000037.2:p.Leu72Gln
1/6913 7.0e-05 1 Pathogenic
View 5 125887751 125887751 C > G ALDH7A1 ENST00000447989.2:c.1168G>C
NM_001201377.1:c.1195G>C
NM_001182.4:c.1279G>C
ENSP00000414132.2:p.Glu390Gln
NP_001188306.1:p.Glu399Gln
NP_001173.2:p.Glu427Gln
3/7003 0.00021 1 Pathogenic
View 5 125919689 125919689 G > A ALDH7A1 ENST00000447989.2:c.409C>T
NM_001201377.1:c.244C>T
NM_001182.4:c.328C>T
ENSP00000414132.2:p.Arg137Ter
NP_001188306.1:p.Arg82Ter
NP_001173.2:p.Arg110Ter
1/7003 7.0e-05 1 Pathogenic
View 5 131726522 131726522 C > T SLC22A5 NM_003060.3:c.1193C>T
NP_003051.1:p.Pro398Leu
6/7192 0.00042 1 Pathogenic
View 5 131728266 131728266 C > T SLC22A5 NM_003060.3:c.1409C>T
NP_003051.1:p.Ser470Phe
1/7003 0.00014 1 Pathogenic
View 5 148406653 148406653 T > C SH3TC2 NM_024577.3:c.2642A>G
NP_078853.2:p.Asn881Ser
2/5119 0.0002 1 Pathogenic
View 5 149361113 149361113 T > A SLC26A2 NM_000112.3:c.1957T>A
NP_000103.2:p.Cys653Ser
2/6913 0.00014 1 Pathogenic
View 5 171821626 171821626 G > A SH3PXD2B NM_001017995.2:c.250C>T
NP_001017995.1:p.Arg84Ter
2/5119 0.0002 1 Pathogenic
View 6 24505099 24505099 G > A ALDH5A1 NM_001080.3:c.612G>A
NM_170740.1:c.612G>A
NP_001071.1:p.Trp204Ter
NP_733936.1:p.Trp204Ter
3/7003 0.00021 1 Pathogenic
View 6 24515471 24515471 G > A ALDH5A1 NM_001080.3:c.803G>A
NM_170740.1:c.842G>A
NP_001071.1:p.Gly268Glu
NP_733936.1:p.Gly281Glu
2/7003 0.00014 1 Pathogenic
View 6 31930271 31930271 C > T SKIV2L NM_006929.4:c.1120C>T
NP_008860.4:p.Arg374Ter
1/5119 0.0001 1 premature_stop Pathogenic
View 6 43488700 43488700 G > A POLR1C NM_203290.2:c.836G>A
NP_976035.1:p.Arg279Gln
4/5119 0.00039 1 Pathogenic
View 6 51612855 51612855 A > - PKHD1 NM_138694.3:c.9559del
NM_170724.2:c.9559del
NP_619639.3:p.Ser3187LeufsTer33
NP_733842.2:p.Ser3187LeufsTer33
1/6913 7.0e-05 2 frameshift Pathogenic
View 6 51612884 51612884 A > G PKHD1 NM_138694.3:c.9530T>C
NM_170724.2:c.9530T>C
NP_619639.3:p.Ile3177Thr
NP_733842.2:p.Ile3177Thr
4/6913 0.00029 1 Pathogenic
View 6 51799117 51799117 C > T PKHD1 NM_138694.3:c.5912G>A
NM_170724.2:c.5912G>A
NP_619639.3:p.Gly1971Asp
NP_733842.2:p.Gly1971Asp
3/6913 0.00022 1 Pathogenic
View 6 51910980 51910980 G > A PKHD1 NM_138694.3:c.2414C>T
NM_170724.2:c.2414C>T
NP_619639.3:p.Pro805Leu
NP_733842.2:p.Pro805Leu
3/6913 0.00022 1 Pathogenic
View 6 51947999 51947999 G > A PKHD1 NM_138694.3:c.107C>T
NM_170724.2:c.107C>T
NP_619639.3:p.Thr36Met
NP_733842.2:p.Thr36Met
6/6913 0.00043 1 Pathogenic
View 6 129486817 129486817 C > T LAMA2 NM_001079823.1:c.1303C>T
ENST00000421865.2:c.1303C>T
NP_001073291.1:p.Arg435Ter
ENSP00000400365.2:p.Arg435Ter
1/6913 7.0e-05 1 Pathogenic
View 6 138197225 138197225 T > C TNFAIP3 NM_001270508.1:c.727T>C
NM_006290.3:c.727T>C
NM_001270507.1:c.727T>C
NP_001257437.1:p.Cys243Arg
NP_006281.1:p.Cys243Arg
NP_001257436.1:p.Cys243Arg
1/5119 0.0001 1 non_synonymous Pathogenic
View 6 157527977 157527978 - > T ARID1B NM_017519.2:c.5664dupT
NM_020732.3:c.5703dupT
NP_059989.2:p.Lys1889Ter
NP_065783.3:p.Lys1902Ter
1/5119 0.0001 1 frameshift Pathogenic
View 6 162206852 162206852 G > A PARK2 NM_013988.2:c.376C>T
NM_004562.2:c.823C>T
NM_013987.2:c.739C>T
NP_054643.2:p.Arg126Trp
NP_004553.2:p.Arg275Trp
NP_054642.2:p.Arg247Trp
25/5119 0.00244 1 Pathogenic
View 7 2584678 2584679 - > T BRAT1 NM_152743.3:c.294dupA
NP_689956.2:p.Leu99ThrfsTer92
5/5119 0.00049 2 frameshift Pathogenic
View 7 6026457 6026457 T > A PMS2 NR_003085.2:n.2021A>T
NM_000535.5:c.1939A>T
NP_000526.1:p.Lys647Ter
1/5119 0.0001 1 Pathogenic
View 7 33423364 33423367 AAAC > - BBS9 NM_198428.2:c.1877_1880del
NM_014451.3:c.1757_1760del
NM_001033605.1:c.1862_1865del
NM_001033604.1:c.1772_1775del
NP_940820.1:p.Lys626ArgfsTer22
NP_055266.2:p.Lys586ArgfsTer22
NP_001028777.1:p.Lys621ArgfsTer22
NP_001028776.1:p.Lys591ArgfsTer22
1/5119 0.0001 1 Pathogenic
View 7 42004239 42004240 - > A GLI3 NM_000168.5:c.4431dupT
NP_000159.3:p.Glu1478Ter
1/5119 0.0001 1 Pathogenic
View 7 44192937 44192937 C > A GCK NM_033507.1:c.174G>T
NM_000162.3:c.171G>T
NM_033508.1:c.168G>T
NP_277042.1:p.Met58Ile
NP_000153.1:p.Met57Ile
NP_277043.1:p.Met56Ile
1/5119 0.0001 1 Pathogenic
View 7 45077941 45077941 C > - CCM2 NR_030770.1:n.204del
NM_001167934.1:c.31-25574del
NM_031443.3:c.122del
NM_001167935.1:c.122del
NM_001029835.2:c.185del
NP_113631.1:p.Pro41LeufsTer19
NP_001161407.1:p.Pro41LeufsTer19
NP_001025006.1:p.Pro62LeufsTer19
1/5119 0.0001 2 frameshift Pathogenic
View 7 92130876 92130876 C > T PEX1 NM_000466.2:c.2528G>A
NP_000457.1:p.Gly843Asp
12/6913 0.00087 1 Pathogenic
View 7 92132483 92132484 - > A PEX1 NM_000466.2:c.2097dupT
NP_000457.1:p.Ile700TyrfsTer42
14/6913 0.00101 1 Pathogenic
View 7 97493580 97493580 C > - ASNS NM_001673.4:c.478del
NM_133436.3:c.478del
NM_001178076.1:c.229del
NM_183356.3:c.478del
NM_001178075.1:c.415del
NM_001178077.1:c.229del
NP_001664.3:p.Glu160LysfsTer8
NP_597680.2:p.Glu160LysfsTer8
NP_001171547.1:p.Glu77LysfsTer8
NP_899199.2:p.Glu160LysfsTer8
NP_001171546.1:p.Glu139LysfsTer8
NP_001171548.1:p.Glu77LysfsTer8
2/5119 0.0002 1 ClinVar pathogenic variant Pathogenic
View 7 107555951 107555951 G > T DLD NM_000108.3:c.685G>T
NP_000099.2:p.Gly229Cys
6/6913 0.00043 1 Pathogenic
View 7 117149177 117149177 G > A CFTR NM_000492.3:c.254G>A
NP_000483.3:p.Gly85Glu
2/7003 0.00014 1 Pathogenic
View 7 117149197 117149197 G > A CFTR NM_000492.3:c.273+1G>A
1/7003 7.0e-05 1 Pathogenic
View 7 117170952 117170952 G > A CFTR NM_000492.3:c.274-1G>A
1/7003 7.0e-05 1 Pathogenic
View 7 117171029 117171029 G > A CFTR NM_000492.3:c.350G>A
NP_000483.3:p.Arg117His
31/7003 0.00221 1 Pathogenic
View 7 117180284 117180284 C > T CFTR NM_000492.3:c.1000C>T
NP_000483.3:p.Arg334Trp
3/7003 0.00029 1 Pathogenic
View 7 117180324 117180324 G > A CFTR NM_000492.3:c.1040G>A
NP_000483.3:p.Arg347His
2/7003 0.00014 1 Pathogenic
View 7 117188810 117188811 - > AGAT CFTR NM_000492.3:c.1327_1330dupGATA
NP_000483.3:p.Ile444ArgfsTer3
1/6985 7.0e-05 1 Pathogenic
Displaying 200 through 250 of 332 variants