List of variants reported as pathogenic for congenital entropion by Invitae

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 97

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HGVS	dbSNP	gnomAD frequency
NM_016938.5(EFEMP2):c.409A>T (p.Ser137Cys)	rs1306393544	0.00022
NM_030777.4(SLC2A10):c.394C>T (p.Arg132Trp)	rs121908173	0.00010
NM_030777.4(SLC2A10):c.691C>T (p.Arg231Trp)	rs146579504	0.00010
NM_002860.4(ALDH18A1):c.1273C>T (p.Arg425Cys)	rs762742204	0.00009
NM_030777.4(SLC2A10):c.313C>T (p.Arg105Cys)	rs767864243	0.00005
NM_030777.4(SLC2A10):c.395G>A (p.Arg132Gln)	rs376346077	0.00005
NM_030777.4(SLC2A10):c.1276G>T (p.Gly426Trp)	rs121908172	0.00004
NM_030777.4(SLC2A10):c.314G>A (p.Arg105His)	rs753280877	0.00004
NM_030777.4(SLC2A10):c.1330C>T (p.Arg444Ter)	rs370547023	0.00002
NM_030777.4(SLC2A10):c.692G>A (p.Arg231Gln)	rs771028960	0.00002
NM_002860.4(ALDH18A1):c.383G>A (p.Arg128His)	rs768323248	0.00001
NM_002860.4(ALDH18A1):c.754C>T (p.Arg252Ter)	rs758543218	0.00001
NM_016938.5(EFEMP2):c.499G>T (p.Glu167Ter)	rs763944898	0.00001
NM_030777.4(SLC2A10):c.1309G>A (p.Glu437Lys)	rs763220502	0.00001
NM_030777.4(SLC2A10):c.1465G>C (p.Gly489Arg)	rs201268555	0.00001
NM_030777.4(SLC2A10):c.648C>G (p.Tyr216Ter)	rs1015798796	0.00001
NM_030777.4(SLC2A10):c.685C>T (p.Arg229Ter)	rs756457861	0.00001
NC_000010.10:g.(?_97376214)_(97376391_?)del
NC_000011.10:g.(?_65871960)_(65872944_?)del
NC_000020.10:g.(?_45357972)_(45358147_?)del
NC_000020.11:g.(?_46709717)_(46733854_?)del
NC_000023.10:g.(?_77227108)_(77227268_?)del
NC_000023.10:g.(?_77227108)_(77258743_?)del
NC_000023.10:g.(?_77243718)_(77245474_?)del
NC_000023.10:g.(?_77264993)_(77268389_?)del
NC_000023.10:g.(?_77266653)_(77271398_?)dup
NC_000023.10:g.(?_77270139)_(77271398_?)del
NC_000023.10:g.(?_77271231)_(77271398_?)del
NC_000023.10:g.(?_77275721)_(77279056_?)del
NC_000023.10:g.(?_77300947)_(77302067_?)del
NM_000052.7(ATP7A):c.1225C>T (p.Arg409Ter)	rs72554636
NM_000052.7(ATP7A):c.1273del (p.Leu424_Leu425insTer)	rs2077660153
NM_000052.7(ATP7A):c.1285G>T (p.Glu429Ter)
NM_000052.7(ATP7A):c.1537G>T (p.Glu513Ter)	rs1569549699
NM_000052.7(ATP7A):c.1639C>T (p.Arg547Ter)	rs797045332
NM_000052.7(ATP7A):c.169C>T (p.Gln57Ter)
NM_000052.7(ATP7A):c.1870-1G>C	rs797045338
NM_000052.7(ATP7A):c.1874T>G (p.Leu625Ter)	rs797045339
NM_000052.7(ATP7A):c.1933C>T (p.Arg645Ter)	rs72554640
NM_000052.7(ATP7A):c.1945C>T (p.Gln649Ter)
NM_000052.7(ATP7A):c.2053C>T (p.Gln685Ter)
NM_000052.7(ATP7A):c.2179G>A (p.Gly727Arg)	rs72554644
NM_000052.7(ATP7A):c.2186G>A (p.Trp729Ter)	rs2149095968
NM_000052.7(ATP7A):c.2446del (p.Gln816fs)
NM_000052.7(ATP7A):c.2467del (p.Ile822_Val823insTer)	rs1569549974
NM_000052.7(ATP7A):c.2663del (p.Thr888fs)	rs2077896094
NM_000052.7(ATP7A):c.2938C>T (p.Arg980Ter)	rs72554649
NM_000052.7(ATP7A):c.2956C>T (p.Arg986Ter)	rs72554650
NM_000052.7(ATP7A):c.3111G>T (p.Lys1037Asn)
NM_000052.7(ATP7A):c.3250dup (p.Ser1084fs)	rs1603389393
NM_000052.7(ATP7A):c.3294+1G>A	rs797045374
NM_000052.7(ATP7A):c.3473C>A (p.Ser1158Ter)	rs1557237451
NM_000052.7(ATP7A):c.3526C>T (p.Gln1176Ter)	rs2078030304
NM_000052.7(ATP7A):c.3560G>A (p.Trp1187Ter)	rs2149109587
NM_000052.7(ATP7A):c.3868C>T (p.Gln1290Ter)	rs1603391120
NM_000052.7(ATP7A):c.4027del (p.Ala1343fs)	rs2078061940
NM_000052.7(ATP7A):c.4153C>T (p.Gln1385Ter)
NM_000052.7(ATP7A):c.4156C>T (p.Pro1386Ser)	rs267606672
NM_000052.7(ATP7A):c.422_423del (p.Glu141fs)	rs797045397
NM_000052.7(ATP7A):c.453del (p.Thr152fs)	rs1603381331
NM_000052.7(ATP7A):c.462dup (p.Lys155fs)	rs2077652014
NM_000052.7(ATP7A):c.466_467insC (p.Lys156fs)
NM_000052.7(ATP7A):c.499C>T (p.Gln167Ter)
NM_000052.7(ATP7A):c.601C>T (p.Arg201Ter)	rs151340633
NM_000052.7(ATP7A):c.657_661del (p.Ile220fs)
NM_000052.7(ATP7A):c.802C>T (p.Gln268Ter)	rs2149083118
NM_000052.7(ATP7A):c.870_871del (p.Ser293fs)
NM_000052.7(ATP7A):c.897del (p.Leu299fs)
NM_002860.4(ALDH18A1):c.1227dup (p.Asp410fs)
NM_002860.4(ALDH18A1):c.1321C>T (p.Arg441Ter)	rs145289559
NM_002860.4(ALDH18A1):c.1713dup (p.Lys572Ter)
NM_002860.4(ALDH18A1):c.1795del (p.Arg599fs)
NM_002860.4(ALDH18A1):c.1804del (p.Arg602fs)
NM_002860.4(ALDH18A1):c.1993C>T (p.Arg665Ter)
NM_002860.4(ALDH18A1):c.2117_2118del (p.Thr706fs)
NM_002860.4(ALDH18A1):c.339del (p.Met113fs)
NM_002860.4(ALDH18A1):c.359T>C (p.Val120Ala)	rs863224945
NM_002860.4(ALDH18A1):c.413G>A (p.Arg138Gln)	rs863225045
NM_002860.4(ALDH18A1):c.545del (p.Ile182fs)
NM_002860.4(ALDH18A1):c.741del (p.Asp247fs)	rs1555262375
NM_002860.4(ALDH18A1):c.755G>A (p.Arg252Gln)	rs864321670
NM_016938.5(EFEMP2):c.290dup (p.Pro98fs)
NM_016938.5(EFEMP2):c.338_339del (p.Gly112_Tyr113insTer)
NM_016938.5(EFEMP2):c.481G>A (p.Glu161Lys)	rs761656636
NM_016938.5(EFEMP2):c.859dup (p.Cys287fs)
NM_016938.5(EFEMP2):c.861T>A (p.Cys287Ter)	rs1044449024
NM_016938.5(EFEMP2):c.917dup (p.Tyr307fs)
NM_016938.5(EFEMP2):c.919_952dup (p.Pro318fs)	rs2134747667
NM_030777.4(SLC2A10):c.10del (p.Ser4fs)
NM_030777.4(SLC2A10):c.1334del (p.Gly445fs)	rs587776600
NM_030777.4(SLC2A10):c.1424T>A (p.Leu475Ter)	rs2123062030
NM_030777.4(SLC2A10):c.1A>G (p.Met1Val)
NM_030777.4(SLC2A10):c.243C>G (p.Ser81Arg)	rs80358230
NM_030777.4(SLC2A10):c.289del (p.Ser97fs)
NM_030777.4(SLC2A10):c.343_832delinsC (p.Ser115_Ala278delinsPro)
NM_030777.4(SLC2A10):c.473_476del (p.Ala158fs)	rs2123045055
NM_030777.4(SLC2A10):c.483del (p.Trp162fs)	rs2123045187

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