Download: Excel
| 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 |