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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
Displaying 350 through 400 of 521 variants