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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 38592513 38592513 C > T SCN5A SCN5A SCN5A SCN5A SCN5A SCN5A NM_001099405.1:c.5296G>A
NM_000335.4:c.5347G>A
NM_001160161.1:c.5188G>A
NM_001099404.1:c.5350G>A
NM_198056.2:c.5350G>A
NM_001160160.1:c.5251G>A
NP_001092875.1:p.Glu1766Lys
NP_000326.2:p.Glu1783Lys
NP_001153633.1:p.Glu1730Lys
NP_001092874.1:p.Glu1784Lys
NP_932173.1:p.Glu1784Lys
NP_001153632.1:p.Glu1751Lys
2/6402 0.00016 1 Pathogenic
View 3 71021784 71021784 C > T FOXP1 FOXP1 FOXP1 FOXP1 FOXP1 FOXP1 FOXP1 FOXP1 NM_001244815.1:c.1580G>A
NM_032682.5:c.1574G>A
NM_001244814.1:c.1574G>A
NM_001244808.1:c.1571G>A
NM_001244816.1:c.1574G>A
NM_001244812.1:c.1346G>A
NM_001244813.1:c.1274G>A
NM_001244810.1:c.1531-453G>A
NP_001231744.1:p.Arg527Gln
NP_116071.2:p.Arg525Gln
NP_001231743.1:p.Arg525Gln
NP_001231737.1:p.Arg524Gln
NP_001231745.1:p.Arg525Gln
NP_001231741.1:p.Arg449Gln
NP_001231742.1:p.Arg425Gln
1/6213 8.0e-05 3 non_synonymous Pathogenic
View 3 81698005 81698005 A > G GBE1 ENST00000429644.2:c.691+2T>C
15/8004 0.00094 1 Pathogenic
View 3 132394747 132394747 G > A NPHP3-ACAD11 UBA5 UBA5 NR_037804.1:n.3995+6011C>T
NM_024818.3:c.1111G>A
NM_198329.2:c.943G>A
NP_079094.1:p.Ala371Thr
NP_938143.1:p.Ala315Thr
36/6174 0.00292 1 Pathogenic
View 3 182763310 182763310 A > C MCCC1 NM_020166.3:c.974T>G
NP_064551.3:p.Met325Arg
1/6213 8.0e-05 1 Pathogenic
View 3 182810333 182810333 C > T MCCC1 NM_020166.3:c.137G>A
NP_064551.3:p.Gly46Glu
5/6213 0.0004 1 Pathogenic
View 3 183855425 183855425 G > A EIF2B5 NM_003907.2:c.338G>A
NP_003898.2:p.Arg113His
6/6213 0.00048 1 Pathogenic
View 4 3494833 3494834 - > GCCT DOK7 DOK7 DOK7 ENST00000507039.1:c.*345_*348dupTGCC
ENST00000340083.5:c.1124_1127dupTGCC
NM_001256896.1:c.194_197dupTGCC
ENSP00000344432.5:p.Ala378SerfsTer30
NP_001243825.1:p.Ala68SerfsTer30
15/6865 0.00117 1 Pathogenic
View 4 79285209 79285209 G > A FRAS1 FRAS1 NM_025074.6:c.2722+1G>A
NM_001166133.1:c.2722+1G>A
1/8004 6.0e-05 1 Pathogenic
View 4 79394620 79394620 T > A FRAS1 NM_025074.6:c.7551T>A
NP_079350.5:p.Tyr2517Ter
4/8004 0.00025 1 Pathogenic
View 4 79455625 79455625 C > T FRAS1 NM_025074.6:c.10948C>T
NP_079350.5:p.Gln3650Ter
1/8004 6.0e-05 1 ClinVar pathogenic variant Pathogenic
View 4 84206019 84206020 - > G COQ2 NM_015697.7:c.48dupC
NP_056512.5:p.Ala17ArgfsTer76
3/8223 0.00018 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
2/6213 0.00016 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
2/6213 0.00016 1 Pathogenic
View 4 159601741 159601741 A > T ETFDH NM_004453.2:c.157A>T
NP_004444.2:p.Lys53Ter
1/8004 6.0e-05 1 ClinVar pathogenic variant Pathogenic
View 4 159603421 159603421 G > A ETFDH NM_004453.2:c.250G>A
NP_004444.2:p.Ala84Thr
2/8004 0.00012 1 Pathogenic
View 4 159605800 159605800 C > G ETFDH NM_004453.2:c.462C>G
NP_004444.2:p.Tyr154Ter
1/8004 6.0e-05 1 ClinVar pathogenic variant Pathogenic
View 4 159627422 159627422 C > T ETFDH NM_004453.2:c.1367C>T
NP_004444.2:p.Pro456Leu
1/8004 6.0e-05 1 Pathogenic
View 4 159629598 159629599 AT > - ETFDH NM_004453.2:c.1773_1774del
NP_004444.2:p.Cys592Ter
1/8004 6.0e-05 1 Pathogenic
View 5 1212453 1212453 G > A SLC6A19 NM_001003841.2:c.517G>A
NP_001003841.1:p.Asp173Asn
37/6213 0.00298 1 Pathogenic
View 5 1213639 1213639 T > C SLC6A19 NM_001003841.2:c.725T>C
NP_001003841.1:p.Leu242Pro
3/6213 0.00024 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
1/8004 6.0e-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
3/8223 0.00018 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
1/8223 6.0e-05 1 Pathogenic
View 5 131726522 131726522 C > T SLC22A5 NM_003060.3:c.1193C>T
NP_003051.1:p.Pro398Leu
6/8412 0.00036 1 Pathogenic
View 5 131728266 131728266 C > T SLC22A5 NM_003060.3:c.1409C>T
NP_003051.1:p.Ser470Phe
1/8223 0.00012 1 Pathogenic
View 5 148406653 148406653 T > C SH3TC2 NM_024577.3:c.2642A>G
NP_078853.2:p.Asn881Ser
2/6213 0.00016 1 Pathogenic
View 5 149361113 149361113 T > A SLC26A2 NM_000112.3:c.1957T>A
NP_000103.2:p.Cys653Ser
2/8004 0.00012 1 Pathogenic
View 5 149756128 149756129 - > T TCOF1 TCOF1 TCOF1 TCOF1 TCOF1 TCOF1 NM_001135243.1:c.2286dupT
NM_000356.3:c.2055dupT
NM_001008657.2:c.2286dupT
NM_001135245.1:c.2055dupT
NM_001135244.1:c.2286dupT
NM_001195141.1:c.2286dupT
NP_001128715.1:p.Glu763Ter
NP_000347.2:p.Glu686Ter
NP_001008657.1:p.Glu763Ter
NP_001128717.1:p.Glu686Ter
NP_001128716.1:p.Glu763Ter
NP_001182070.1:p.Glu763Ter
1/6213 8.0e-05 1 frameshift Pathogenic
View 5 171821626 171821626 G > A SH3PXD2B NM_001017995.2:c.250C>T
NP_001017995.1:p.Arg84Ter
2/6213 0.00016 1 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
3/8223 0.00018 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
2/8223 0.00012 1 Pathogenic
View 6 31930271 31930271 C > T SKIV2L NM_006929.4:c.1120C>T
NP_008860.4:p.Arg374Ter
1/6213 8.0e-05 1 Pathogenic
View 6 43488700 43488700 G > A POLR1C NM_203290.2:c.836G>A
NP_976035.1:p.Arg279Gln
7/6213 0.00056 1 Pathogenic
View 6 51612855 51612855 A > - PKHD1 PKHD1 NM_138694.3:c.9559del
NM_170724.2:c.9559del
NP_619639.3:p.Ser3187LeufsTer33
NP_733842.2:p.Ser3187LeufsTer33
1/8004 6.0e-05 1 ClinVar pathogenic variant Pathogenic
View 6 51612884 51612884 A > G PKHD1 PKHD1 NM_138694.3:c.9530T>C
NM_170724.2:c.9530T>C
NP_619639.3:p.Ile3177Thr
NP_733842.2:p.Ile3177Thr
4/8004 0.00025 1 Pathogenic
View 6 51799117 51799117 C > T PKHD1 PKHD1 NM_138694.3:c.5912G>A
NM_170724.2:c.5912G>A
NP_619639.3:p.Gly1971Asp
NP_733842.2:p.Gly1971Asp
3/8004 0.00019 1 Pathogenic
View 6 51910980 51910980 G > A PKHD1 PKHD1 NM_138694.3:c.2414C>T
NM_170724.2:c.2414C>T
NP_619639.3:p.Pro805Leu
NP_733842.2:p.Pro805Leu
3/8004 0.00019 1 Pathogenic
View 6 51947999 51947999 G > A PKHD1 PKHD1 NM_138694.3:c.107C>T
NM_170724.2:c.107C>T
NP_619639.3:p.Thr36Met
NP_733842.2:p.Thr36Met
6/8004 0.00037 1 Pathogenic
View 6 70411362 70411362 C > - LMBRD1 NM_018368.3:c.1056del
NP_060838.3:p.Asn353IlefsTer18
8/6213 0.00064 1 Pathogenic
View 6 129486817 129486817 C > T LAMA2 ENST00000421865.2:c.1303C>T
ENSP00000400365.2:p.Arg435Ter
1/8004 6.0e-05 1 Pathogenic
View 6 138197225 138197225 T > C TNFAIP3 TNFAIP3 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
1/6213 8.0e-05 1 non_synonymous 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
1/6213 8.0e-05 1 ClinVar pathogenic variant Pathogenic
View 6 162206852 162206852 G > A PRKN PRKN PRKN 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
28/6213 0.00225 1 Pathogenic
View 7 2584678 2584679 - > T BRAT1 NM_152743.3:c.294dupA
NP_689956.2:p.Leu99ThrfsTer92
5/6213 0.0004 1 Pathogenic
View 7 6026457 6026457 T > A PMS2 PMS2 NR_003085.2:n.2021A>T
ENST00000265849.7:c.1939A>T
ENSP00000265849.7:p.Lys647Ter
1/6213 8.0e-05 1 Pathogenic
View 7 33423364 33423367 AAAC > - BBS9 BBS9 BBS9 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
1/6213 8.0e-05 1 Pathogenic
View 7 42004239 42004240 - > A GLI3 NM_000168.5:c.4431dupT
NP_000159.3:p.Glu1478Ter
1/6213 8.0e-05 1 Pathogenic
View 7 44192937 44192937 C > A GCK GCK 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
1/6213 8.0e-05 1 Pathogenic
View 7 45077941 45077941 C > - CCM2 CCM2 CCM2 CCM2 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
1/6213 8.0e-05 1 ClinVar pathogenic variant Pathogenic
Displaying 250 through 300 of 407 variants