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| Chr | Start | Stop | Change | Gene(s) | HGVS_C | HGVS_P | Sample Count | CMH MAF | ACMG Cat. | ACMG Note | Curation | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| View | 4 | 79455625 | 79455625 | C > T | FRAS1 |
NM_025074.6:c.10948C>T |
NP_079350.5:p.Gln3650Ter |
1/10521 | 5.0e-05 | 1 | ClinVar pathogenic variant | Pathogenic |
| View | 4 | 84206019 | 84206020 | - > G | COQ2 |
NM_015697.7:c.48dupC |
NP_056512.5:p.Ala17ArgfsTer76 |
3/10773 | 0.00014 | 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 |
2/8685 | 0.00012 | 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 |
2/8685 | 0.00012 | 1 | Pathogenic | |
| View | 4 | 159601741 | 159601741 | A > T | ETFDH |
NM_004453.2:c.157A>T |
NP_004444.2:p.Lys53Ter |
1/10521 | 5.0e-05 | 1 | ClinVar pathogenic variant | Pathogenic |
| View | 4 | 159603421 | 159603421 | G > A | ETFDH |
NM_004453.2:c.250G>A |
NP_004444.2:p.Ala84Thr |
2/10521 | 0.0001 | 1 | Pathogenic | |
| View | 4 | 159605800 | 159605800 | C > G | ETFDH |
NM_004453.2:c.462C>G |
NP_004444.2:p.Tyr154Ter |
2/10521 | 0.0001 | 1 | ClinVar pathogenic variant | Pathogenic |
| View | 4 | 159627422 | 159627422 | C > T | ETFDH |
NM_004453.2:c.1367C>T |
NP_004444.2:p.Pro456Leu |
1/10521 | 5.0e-05 | 1 | Pathogenic | |
| View | 4 | 159629598 | 159629599 | AT > - | ETFDH |
NM_004453.2:c.1773_1774del |
NP_004444.2:p.Cys592Ter |
1/10521 | 5.0e-05 | 1 | Pathogenic | |
| View | 5 | 1212453 | 1212453 | G > A | SLC6A19 |
NM_001003841.2:c.517G>A |
NP_001003841.1:p.Asp173Asn |
51/8685 | 0.00294 | 1 | Pathogenic | |
| View | 5 | 1213639 | 1213639 | T > C | SLC6A19 |
NM_001003841.2:c.725T>C |
NP_001003841.1:p.Leu242Pro |
3/8685 | 0.00017 | 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 |
1/10521 | 5.0e-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 |
6/10773 | 0.00028 | 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 |
1/10773 | 5.0e-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 |
5/10773 | 0.00023 | 2 | frameshift | Pathogenic |
| View | 5 | 131726522 | 131726522 | C > T | SLC22A5 |
NM_003060.3:c.1193C>T |
NP_003051.1:p.Pro398Leu |
6/10962 | 0.00027 | 1 | Pathogenic | |
| View | 5 | 131728266 | 131728266 | C > T | SLC22A5 |
NM_003060.3:c.1409C>T |
NP_003051.1:p.Ser470Phe |
1/10773 | 9.0e-05 | 1 | Pathogenic | |
| View | 5 | 148406653 | 148406653 | T > C | SH3TC2 |
NM_024577.3:c.2642A>G |
NP_078853.2:p.Asn881Ser |
2/8685 | 0.00012 | 1 | Pathogenic | |
| View | 5 | 149359991 | 149359991 | C > T | SLC26A2 |
NM_000112.3:c.835C>T |
NP_000103.2:p.Arg279Trp |
29/10521 | 0.00138 | 1 | Pathogenic | |
| View | 5 | 149361113 | 149361113 | T > A | SLC26A2 |
NM_000112.3:c.1957T>A |
NP_000103.2:p.Cys653Ser |
2/10521 | 0.0001 | 1 | Pathogenic | |
| View | 5 | 149756128 | 149756129 | - > T | TCOF1 TCOF1 TCOF1 TCOF1 TCOF1 TCOF1 |
NM_001195141.1:c.2286dupT NM_000356.3:c.2055dupT NM_001008657.2:c.2286dupT NM_001135244.1:c.2286dupT NM_001135243.1:c.2286dupT NM_001135245.1:c.2055dupT |
NP_001182070.1:p.Glu763Ter NP_000347.2:p.Glu686Ter NP_001008657.1:p.Glu763Ter NP_001128716.1:p.Glu763Ter NP_001128715.1:p.Glu763Ter NP_001128717.1:p.Glu686Ter |
1/8685 | 6.0e-05 | 1 | frameshift | Pathogenic |
| View | 5 | 171821626 | 171821626 | G > A | SH3PXD2B |
NM_001017995.2:c.250C>T |
NP_001017995.1:p.Arg84Ter |
2/8685 | 0.00012 | 1 | Pathogenic | |
| View | 5 | 176638109 | 176638109 | A > - | NSD1 NSD1 |
NM_172349.2:c.1902del NM_022455.4:c.2709del |
NP_758859.1:p.Asp635ThrfsTer8 NP_071900.2:p.Asp904ThrfsTer8 |
1/9384 | 5.0e-05 | 1 | frameshift | Pathogenic |
| View | 6 | 24505099 | 24505099 | G > A | ALDH5A1 ALDH5A1 |
NM_001080.3:c.612G>A NM_170740.1:c.612G>A |
NP_001071.1:p.Trp204Ter NP_733936.1:p.Trp204Ter |
3/10773 | 0.00014 | 1 | Pathogenic | |
| View | 6 | 24515471 | 24515471 | G > A | ALDH5A1 ALDH5A1 |
NM_001080.3:c.803G>A NM_170740.1:c.842G>A |
NP_001071.1:p.Gly268Glu NP_733936.1:p.Gly281Glu |
2/10773 | 9.0e-05 | 1 | Pathogenic | |
| View | 6 | 31930271 | 31930271 | C > T | SKIV2L |
NM_006929.4:c.1120C>T |
NP_008860.4:p.Arg374Ter |
1/8685 | 6.0e-05 | 1 | Pathogenic | |
| View | 6 | 43488700 | 43488700 | G > A | POLR1C |
NM_203290.2:c.836G>A |
NP_976035.1:p.Arg279Gln |
7/8685 | 0.0004 | 1 | Pathogenic | |
| View | 6 | 51612855 | 51612855 | A > - | PKHD1 PKHD1 |
NM_170724.2:c.9559del NM_138694.3:c.9559del |
NP_733842.2:p.Ser3187LeufsTer33 NP_619639.3:p.Ser3187LeufsTer33 |
1/10521 | 5.0e-05 | 1 | ClinVar pathogenic variant | Pathogenic |
| View | 6 | 51612884 | 51612884 | A > G | PKHD1 PKHD1 |
NM_170724.2:c.9530T>C NM_138694.3:c.9530T>C |
NP_733842.2:p.Ile3177Thr NP_619639.3:p.Ile3177Thr |
4/10521 | 0.00019 | 1 | Pathogenic | |
| View | 6 | 51799117 | 51799117 | C > T | PKHD1 PKHD1 |
NM_170724.2:c.5912G>A NM_138694.3:c.5912G>A |
NP_733842.2:p.Gly1971Asp NP_619639.3:p.Gly1971Asp |
3/10521 | 0.00014 | 1 | Pathogenic | |
| View | 6 | 51910980 | 51910980 | G > A | PKHD1 PKHD1 |
NM_170724.2:c.2414C>T NM_138694.3:c.2414C>T |
NP_733842.2:p.Pro805Leu NP_619639.3:p.Pro805Leu |
3/10521 | 0.00014 | 1 | Pathogenic | |
| View | 6 | 51947999 | 51947999 | G > A | PKHD1 PKHD1 |
NM_170724.2:c.107C>T NM_138694.3:c.107C>T |
NP_733842.2:p.Thr36Met NP_619639.3:p.Thr36Met |
9/10521 | 0.00043 | 1 | Pathogenic | |
| View | 6 | 70411362 | 70411362 | C > - | LMBRD1 |
NM_018368.3:c.1056del |
NP_060838.3:p.Asn353IlefsTer18 |
11/8685 | 0.00063 | 1 | Pathogenic | |
| View | 6 | 129486817 | 129486817 | C > T | LAMA2 |
ENST00000421865.2:c.1303C>T |
ENSP00000400365.2:p.Arg435Ter |
1/10521 | 5.0e-05 | 1 | Pathogenic | |
| View | 6 | 129714215 | 129714215 | G > - | LAMA2 |
ENST00000421865.2:c.5260del |
ENSP00000400365.2:p.Val1754Ter |
2/10521 | 0.0001 | 1 | Pathogenic | |
| View | 6 | 137219351 | 137219351 | T > A | PEX7 |
NM_000288.3:c.875T>A |
NP_000279.1:p.Leu292Ter |
20/10521 | 0.00095 | 1 | Pathogenic | |
| View | 6 | 138197225 | 138197225 | T > C | TNFAIP3 TNFAIP3 TNFAIP3 |
NM_001270507.1:c.727T>C NM_001270508.1:c.727T>C NM_006290.3:c.727T>C |
NP_001257436.1:p.Cys243Arg NP_001257437.1:p.Cys243Arg NP_006281.1:p.Cys243Arg |
1/8685 | 6.0e-05 | 1 | ClinVar pathogenic variant | Pathogenic |
| View | 6 | 157527977 | 157527978 | - > T | ARID1B ARID1B |
NM_017519.2:c.5664dupT NM_020732.3:c.5703dupT |
NP_059989.2:p.Lys1889Ter NP_065783.3:p.Lys1902Ter |
1/8685 | 6.0e-05 | 1 | ClinVar pathogenic variant | Pathogenic |
| View | 6 | 162206852 | 162206852 | G > A | PRKN PRKN PRKN |
NM_013988.2:c.376C>T NM_013987.2:c.739C>T NM_004562.2:c.823C>T |
NP_054643.2:p.Arg126Trp NP_054642.2:p.Arg247Trp NP_004553.2:p.Arg275Trp |
38/8685 | 0.00219 | 1 | Pathogenic | |
| View | 7 | 2584678 | 2584679 | - > T | BRAT1 |
NM_152743.3:c.294dupA |
NP_689956.2:p.Leu99ThrfsTer92 |
6/8685 | 0.00035 | 1 | Pathogenic | |
| View | 7 | 6026457 | 6026457 | T > A | PMS2 PMS2 |
ENST00000265849.7:c.1939A>T NR_003085.2:n.2021A>T |
ENSP00000265849.7:p.Lys647Ter |
1/8685 | 6.0e-05 | 1 | Pathogenic | |
| View | 7 | 31016156 | 31016160 | GGACT > - | GHRHR |
NM_000823.3:c.1089_1093del |
NP_000814.2:p.Leu364PhefsTer21 |
6/8685 | 0.00035 | 1 | Pathogenic | |
| View | 7 | 33423364 | 33423367 | AAAC > - | BBS9 BBS9 BBS9 BBS9 |
NM_014451.3:c.1757_1760del NM_198428.2:c.1877_1880del NM_001033605.1:c.1862_1865del NM_001033604.1:c.1772_1775del |
NP_055266.2:p.Lys586ArgfsTer22 NP_940820.1:p.Lys626ArgfsTer22 NP_001028777.1:p.Lys621ArgfsTer22 NP_001028776.1:p.Lys591ArgfsTer22 |
1/8685 | 6.0e-05 | 1 | Pathogenic | |
| View | 7 | 42004239 | 42004240 | - > A | GLI3 |
NM_000168.5:c.4431dupT |
NP_000159.3:p.Glu1478Ter |
1/8685 | 6.0e-05 | 1 | Pathogenic | |
| View | 7 | 42088089 | 42088089 | C > G | GLI3 |
NM_000168.5:c.679+1G>C |
1/8685 | 6.0e-05 | 1 | Pathogenic | ||
| View | 7 | 44192937 | 44192937 | C > A | GCK GCK GCK |
NM_000162.3:c.171G>T NM_033507.1:c.174G>T NM_033508.1:c.168G>T |
NP_000153.1:p.Met57Ile NP_277042.1:p.Met58Ile NP_277043.1:p.Met56Ile |
1/8685 | 6.0e-05 | 1 | Pathogenic | |
| View | 7 | 45077941 | 45077941 | C > - | CCM2 CCM2 CCM2 CCM2 CCM2 |
NM_001029835.2:c.185del NM_001167934.1:c.31-25574del NM_001167935.1:c.122del NR_030770.1:n.204del NM_031443.3:c.122del |
NP_001025006.1:p.Pro62LeufsTer19 NP_001161407.1:p.Pro41LeufsTer19 NP_113631.1:p.Pro41LeufsTer19 |
1/8685 | 6.0e-05 | 1 | ClinVar pathogenic variant | Pathogenic |
| View | 7 | 47870812 | 47870813 | CA > - | PKD1L1 |
NM_138295.3:c.6473+2_6473+3del |
15/8685 | 0.00086 | 1 | Pathogenic | ||
| View | 7 | 91870414 | 91870417 | ACTT > - | KRIT1 KRIT1 KRIT1 KRIT1 KRIT1 |
NM_001013406.1:c.152_155del NM_194455.1:c.152_155del NM_194454.1:c.152_155del NM_194456.1:c.152_155del NM_004912.3:c.152_155del |
NP_001013424.1:p.Lys51IlefsTer13 NP_919437.1:p.Lys51IlefsTer13 NP_919436.1:p.Lys51IlefsTer13 NP_919438.1:p.Lys51IlefsTer13 NP_004903.2:p.Lys51IlefsTer13 |
2/8685 | 0.00012 | 1 | Pathogenic | |
| View | 7 | 92130876 | 92130876 | C > T | PEX1 |
NM_000466.2:c.2528G>A |
NP_000457.1:p.Gly843Asp |
17/10521 | 0.00081 | 1 | Pathogenic |