ClinVar for MedGen (Select 815422) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3246930	NC_000003.11:g.(?_69058895)_(69061253_?)del	EOGT	Deletion	Adams-Oliver syndrome 4	GPathogenic
Select item 2978976	NM_001278689.2(EOGT):c.621-14del	EOGT	Deletion (intron variant)	Adams-Oliver syndrome 4	GLikely benign
Select item 2978848	NM_001278689.2(EOGT):c.1152+4A>G	EOGT	Single nucleotide variant (intron variant)	Adams-Oliver syndrome 4	GUncertain significance
Select item 2907870	NM_001278689.2(EOGT):c.315G>A (p.Thr105=)	EOGT	Single nucleotide variant (synonymous variant +1 more)	Adams-Oliver syndrome 4	GLikely benign
Select item 2896906	NM_001278689.2(EOGT):c.620+16C>T	EOGT	Single nucleotide variant (intron variant)	Adams-Oliver syndrome 4	GLikely benign
Select item 2873530	NM_001278689.2(EOGT):c.300C>G (p.Val100=)	EOGT	Single nucleotide variant (synonymous variant +1 more)	Adams-Oliver syndrome 4	GLikely benign
Select item 2848662	NM_001278689.2(EOGT):c.727+16T>G	EOGT	Single nucleotide variant (intron variant)	Adams-Oliver syndrome 4	GLikely benign
Select item 2803937	NM_001278689.2(EOGT):c.1152+10del	EOGT	Deletion (intron variant)	Adams-Oliver syndrome 4	GBenign
Select item 2799428	NM_001278689.2(EOGT):c.1455G>C (p.Leu485=)	EOGT	Single nucleotide variant (synonymous variant +1 more)	Adams-Oliver syndrome 4	GLikely benign
Select item 2743106	NM_001278689.2(EOGT):c.421-16T>A	EOGT	Single nucleotide variant (intron variant)	Adams-Oliver syndrome 4	GLikely benign
Select item 2741011	NM_001278689.2(EOGT):c.831+1G>A	EOGT	Single nucleotide variant (splice donor variant)	Adams-Oliver syndrome 4	GLikely pathogenic
Select item 2731499	NM_001278689.2(EOGT):c.728-7A>C	EOGT	Single nucleotide variant (intron variant)	Adams-Oliver syndrome 4	GLikely benign
Select item 2724185	NM_001278689.2(EOGT):c.1437+11A>G	EOGT	Single nucleotide variant (intron variant)	Adams-Oliver syndrome 4	GLikely benign
Select item 2712663	NM_001278689.2(EOGT):c.495C>T (p.Asn165=)	EOGT	Single nucleotide variant (synonymous variant +1 more)	Adams-Oliver syndrome 4	GLikely benign
Select item 2704405	NM_001278689.2(EOGT):c.311+12del	EOGT	Deletion (intron variant)	Adams-Oliver syndrome 4	GLikely benign
Select item 2427509	NC_000003.11:g.(?_69058768)_(69058997_?)dup	EOGT	Duplication	Adams-Oliver syndrome 4	GUncertain significance
Select item 2418504	NM_001278689.2(EOGT):c.1137C>A (p.Ile379=)	EOGT	Single nucleotide variant (synonymous variant +1 more)	Adams-Oliver syndrome 4	GLikely benign
Select item 2415446	NM_001278689.2(EOGT):c.469A>G (p.Thr157Ala)	EOGT (T157A)	Single nucleotide variant (missense variant +1 more)	Adams-Oliver syndrome 4	GUncertain significance
Select item 2189680	NM_001278689.2(EOGT):c.421-6C>T	EOGT	Single nucleotide variant (intron variant)	Adams-Oliver syndrome 4	GLikely benign
Select item 2177680	NM_001278689.2(EOGT):c.1084-8G>T	EOGT	Single nucleotide variant (intron variant)	Adams-Oliver syndrome 4	GLikely benign
Select item 2176427	NM_001278689.2(EOGT):c.831+10A>T	EOGT	Single nucleotide variant (intron variant)	Adams-Oliver syndrome 4	GUncertain significance
Select item 2171565	NM_001278689.2(EOGT):c.202C>G (p.Pro68Ala)	EOGT (P68A)	Single nucleotide variant (missense variant +1 more)	Adams-Oliver syndrome 4	GUncertain significance
Select item 2166761	NM_001278689.2(EOGT):c.1442A>G (p.His481Arg)	EOGT (H481R +1 more)	Single nucleotide variant (missense variant +1 more)	Adams-Oliver syndrome 4 +1 more	GUncertain significance
Select item 2163235	NM_001278689.2(EOGT):c.1158A>G (p.Val386=)	EOGT	Single nucleotide variant (synonymous variant +1 more)	Adams-Oliver syndrome 4	GLikely benign
Select item 2163188	NM_001278689.2(EOGT):c.312-20A>G	EOGT	Single nucleotide variant (intron variant)	Adams-Oliver syndrome 4	GLikely benign
Select item 2162737	NM_001278689.2(EOGT):c.1467G>A (p.Pro489=)	EOGT	Single nucleotide variant (synonymous variant +1 more)	Adams-Oliver syndrome 4	GLikely benign
Select item 2160084	NM_001278689.2(EOGT):c.1215-18T>G	EOGT	Single nucleotide variant (intron variant)	Adams-Oliver syndrome 4	GLikely benign
Select item 2156369	NM_001278689.2(EOGT):c.350A>G (p.Lys117Arg)	EOGT (K117R)	Single nucleotide variant (missense variant +1 more)	Adams-Oliver syndrome 4	GUncertain significance
Select item 2151612	NM_001278689.2(EOGT):c.280T>C (p.Tyr94His)	EOGT (Y94H)	Single nucleotide variant (missense variant +1 more)	Adams-Oliver syndrome 4	GUncertain significance
Select item 2151334	NM_001278689.2(EOGT):c.1408C>T (p.Arg470Trp)	EOGT (R470W +1 more)	Single nucleotide variant (missense variant +1 more)	Adams-Oliver syndrome 4 +1 more	GUncertain significance
Select item 2149423	NM_001278689.2(EOGT):c.421-19T>C	EOGT	Single nucleotide variant (intron variant)	Adams-Oliver syndrome 4	GLikely benign
Select item 2147649	NM_001278689.2(EOGT):c.79C>T (p.His27Tyr)	EOGT (H27Y)	Single nucleotide variant (missense variant +1 more)	Adams-Oliver syndrome 4	GUncertain significance
Select item 2145613	NM_001278689.2(EOGT):c.647A>G (p.Gln216Arg)	EOGT (Q216R)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 4	GUncertain significance
Select item 2141770	NM_001278689.2(EOGT):c.754G>A (p.Asp252Asn)	EOGT (D252N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2139967	NM_001278689.2(EOGT):c.620+19A>T	EOGT	Single nucleotide variant (intron variant)	Adams-Oliver syndrome 4	GLikely benign
Select item 2139839	NM_001278689.2(EOGT):c.516-8T>C	EOGT	Single nucleotide variant (intron variant)	Adams-Oliver syndrome 4	GLikely benign
Select item 2132879	NM_001278689.2(EOGT):c.1412A>G (p.Gln471Arg)	EOGT (Q471R +1 more)	Single nucleotide variant (missense variant +1 more)	Adams-Oliver syndrome 4	GUncertain significance
Select item 2089131	NM_001278689.2(EOGT):c.663T>A (p.Pro221=)	EOGT	Single nucleotide variant (synonymous variant)	Adams-Oliver syndrome 4	GLikely benign
Select item 2083445	NM_001278689.2(EOGT):c.1446T>C (p.His482=)	EOGT	Single nucleotide variant (synonymous variant +1 more)	Adams-Oliver syndrome 4	GLikely benign
Select item 2082730	NM_001278689.2(EOGT):c.1396A>G (p.Ile466Val)	EOGT (I382V +1 more)	Single nucleotide variant (missense variant +1 more)	Adams-Oliver syndrome 4	GUncertain significance
Select item 2078253	NM_001278689.2(EOGT):c.252A>G (p.Lys84=)	EOGT	Single nucleotide variant (synonymous variant +1 more)	Adams-Oliver syndrome 4	GLikely benign
Select item 2063277	NM_001278689.2(EOGT):c.516-18T>C	EOGT	Single nucleotide variant (intron variant)	Adams-Oliver syndrome 4	GBenign
Select item 2062145	NM_001278689.2(EOGT):c.1443C>A (p.His481Gln)	EOGT (H397Q +1 more)	Single nucleotide variant (missense variant +1 more)	Adams-Oliver syndrome 4	GUncertain significance
Select item 2060583	NM_001278689.2(EOGT):c.1460A>G (p.Glu487Gly)	EOGT (E403G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2054176	NM_001278689.2(EOGT):c.621-2A>T	EOGT	Single nucleotide variant (splice acceptor variant)	Adams-Oliver syndrome 4 +1 more	GPathogenic/Likely pathogenic
Select item 2052256	NM_001278689.2(EOGT):c.421-8A>G	EOGT	Single nucleotide variant (intron variant)	Adams-Oliver syndrome 4	GUncertain significance
Select item 2051165	NM_001278689.2(EOGT):c.599G>A (p.Arg200His)	EOGT (R200H)	Single nucleotide variant (missense variant +1 more)	Adams-Oliver syndrome 4	GUncertain significance
Select item 2050021	NM_001278689.2(EOGT):c.1153-17T>G	EOGT	Single nucleotide variant (intron variant)	Adams-Oliver syndrome 4	GLikely benign
Select item 2049339	NM_001278689.2(EOGT):c.807C>T (p.Asp269=)	EOGT	Single nucleotide variant (synonymous variant)	Adams-Oliver syndrome 4 +1 more	GBenign/Likely benign
Select item 2048156	NM_001278689.2(EOGT):c.1214+16T>C	EOGT	Single nucleotide variant (intron variant)	Adams-Oliver syndrome 4	GLikely benign
Select item 2046352	NM_001278689.2(EOGT):c.515+17T>C	EOGT	Single nucleotide variant (intron variant)	Adams-Oliver syndrome 4	GLikely benign
Select item 2043523	NM_001278689.2(EOGT):c.585G>A (p.Thr195=)	EOGT	Single nucleotide variant (synonymous variant +1 more)	Adams-Oliver syndrome 4	GLikely benign
Select item 2040949	NM_001278689.2(EOGT):c.621-14A>T	EOGT	Single nucleotide variant (intron variant)	Adams-Oliver syndrome 4	GLikely benign
Select item 2024688	NM_001278689.2(EOGT):c.45A>C (p.Ser15=)	EOGT	Single nucleotide variant (synonymous variant +1 more)	Adams-Oliver syndrome 4	GLikely benign
Select item 2014029	NM_001278689.2(EOGT):c.124T>C (p.Leu42=)	EOGT	Single nucleotide variant (synonymous variant +1 more)	Adams-Oliver syndrome 4	GLikely benign
Select item 1994792	NM_001278689.2(EOGT):c.404G>C (p.Cys135Ser)	EOGT (C135S)	Single nucleotide variant (missense variant +1 more)	Adams-Oliver syndrome 4	GUncertain significance
Select item 1989739	NM_001278689.2(EOGT):c.1234C>T (p.Gln412Ter)	EOGT (Q328* +1 more)	Single nucleotide variant (nonsense +1 more)	Adams-Oliver syndrome 4	GPathogenic
Select item 1984648	NM_001278689.2(EOGT):c.1534G>A (p.Val512Ile)	EOGT (V512I +1 more)	Single nucleotide variant (missense variant +1 more)	Adams-Oliver syndrome 4	GUncertain significance
Select item 1977738	NM_001278689.2(EOGT):c.1458G>A (p.Gly486=)	EOGT	Single nucleotide variant (synonymous variant +1 more)	Adams-Oliver syndrome 4	GLikely benign
Select item 1961262	NM_001278689.2(EOGT):c.293G>A (p.Ser98Asn)	EOGT (S98N)	Single nucleotide variant (missense variant +1 more)	Adams-Oliver syndrome 4	GUncertain significance
Select item 1956323	NM_001278689.2(EOGT):c.430A>G (p.Ser144Gly)	EOGT (S144G)	Single nucleotide variant (missense variant +1 more)	Adams-Oliver syndrome 4	GUncertain significance
Select item 1955556	NM_001278689.2(EOGT):c.164G>A (p.Arg55Lys)	EOGT (R55K)	Single nucleotide variant (missense variant +1 more)	Adams-Oliver syndrome 4	GUncertain significance
Select item 1955522	NM_001278689.2(EOGT):c.211-9A>G	EOGT	Single nucleotide variant (intron variant)	Adams-Oliver syndrome 4	GLikely benign
Select item 1953101	NM_001278689.2(EOGT):c.1531C>T (p.His511Tyr)	EOGT (H427Y +1 more)	Single nucleotide variant (missense variant +1 more)	Adams-Oliver syndrome 4	GUncertain significance
Select item 1945695	NM_001278689.2(EOGT):c.701C>A (p.Pro234Gln)	EOGT (P234Q)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 4	GUncertain significance
Select item 1938433	NM_001278689.2(EOGT):c.1437+15C>G	EOGT	Single nucleotide variant (intron variant)	Adams-Oliver syndrome 4	GLikely benign
Select item 1929213	NM_001278689.2(EOGT):c.831+19T>A	EOGT	Single nucleotide variant (intron variant)	Adams-Oliver syndrome 4	GLikely benign
Select item 1898304	NM_001278689.2(EOGT):c.1440_1441delinsTT (p.His481Tyr)	EOGT (H397Y +1 more)	Indel (missense variant +1 more)	Adams-Oliver syndrome 4	GUncertain significance
Select item 1716138	NM_001278689.2(EOGT):c.305T>A (p.Met102Lys)	EOGT (M102K)	Single nucleotide variant (missense variant +1 more)	Adams-Oliver syndrome 4	GUncertain significance
Select item 1658823	NM_001278689.2(EOGT):c.515+7T>A	EOGT	Single nucleotide variant (intron variant)	Adams-Oliver syndrome 4	GLikely benign
Select item 1587633	NM_001278689.2(EOGT):c.1440C>T (p.Gly480=)	EOGT	Single nucleotide variant (synonymous variant +1 more)	Adams-Oliver syndrome 4	GLikely benign
Select item 1556201	NM_001278689.2(EOGT):c.421-7C>T	EOGT	Single nucleotide variant (intron variant)	Adams-Oliver syndrome 4	GLikely benign
Select item 1541480	NM_001278689.2(EOGT):c.516-23_516-19del	EOGT	Microsatellite (intron variant)	Adams-Oliver syndrome 4	GLikely benign
Select item 1510816	NM_001278689.2(EOGT):c.1488C>T (p.Phe496=)	EOGT	Single nucleotide variant (synonymous variant +1 more)	Adams-Oliver syndrome 4	GLikely benign
Select item 1497657	NM_001278689.2(EOGT):c.1386C>T (p.Gly462=)	EOGT	Single nucleotide variant (synonymous variant +1 more)	Adams-Oliver syndrome 4	GUncertain significance
Select item 1491206	NM_001278689.2(EOGT):c.118A>T (p.Ile40Phe)	EOGT (I40F)	Single nucleotide variant (missense variant +1 more)	Adams-Oliver syndrome 4	GUncertain significance
Select item 1483956	NM_001278689.2(EOGT):c.1575T>G (p.Asp525Glu)	EOGT (D441E +1 more)	Single nucleotide variant (missense variant +1 more)	Adams-Oliver syndrome 4 +1 more	GUncertain significance
Select item 1480596	NM_001278689.2(EOGT):c.587C>T (p.Ser196Phe)	EOGT (S196F)	Single nucleotide variant (missense variant +1 more)	Adams-Oliver syndrome 4	GUncertain significance
Select item 1468545	NM_001278689.2(EOGT):c.701C>G (p.Pro234Arg)	EOGT (P234R)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 4	GUncertain significance
Select item 1425835	NM_001278689.2(EOGT):c.50G>A (p.Ser17Asn)	EOGT (S17N)	Single nucleotide variant (missense variant +1 more)	Adams-Oliver syndrome 4 +2 more	GUncertain significance
Select item 1420213	NM_001278689.2(EOGT):c.730G>T (p.Val244Phe)	EOGT (V244F)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 4	GUncertain significance
Select item 1418697	NM_001278689.2(EOGT):c.1355G>A (p.Arg452His)	EOGT (R452H +1 more)	Single nucleotide variant (missense variant +1 more)	Adams-Oliver syndrome 4 +1 more	GUncertain significance
Select item 1408115	NM_001278689.2(EOGT):c.334G>A (p.Glu112Lys)	EOGT (E112K)	Single nucleotide variant (missense variant +1 more)	Adams-Oliver syndrome 4	GUncertain significance
Select item 1386378	NM_001278689.2(EOGT):c.1411C>T (p.Gln471Ter)	EOGT (Q471* +1 more)	Single nucleotide variant (nonsense +1 more)	Adams-Oliver syndrome 4	GUncertain significance
Select item 1377716	NM_001278689.2(EOGT):c.1129C>T (p.Arg377Trp)	EOGT (R293W +1 more)	Single nucleotide variant (missense variant +1 more)	Adams-Oliver syndrome 4	GUncertain significance
Select item 1367713	NM_001278689.2(EOGT):c.305T>C (p.Met102Thr)	EOGT (M102T)	Single nucleotide variant (missense variant +1 more)	Adams-Oliver syndrome 4	GUncertain significance
Select item 1324332	NM_001278689.2(EOGT):c.912delinsAC (p.Tyr304Ter)	EOGT (Y304*)	Indel (nonsense +2 more)	Adams-Oliver syndrome 4	GUncertain significance
Select item 1255384	NM_001278689.2(EOGT):c.912T>C (p.Tyr304=)	EOGT	Single nucleotide variant (synonymous variant +2 more)	Adams-Oliver syndrome 4 +1 more	GBenign
Select item 1170244	NM_001278689.2(EOGT):c.1084-14C>G	EOGT	Single nucleotide variant (intron variant)	Adams-Oliver syndrome 4 +1 more	GBenign
Select item 1168129	NM_001278689.2(EOGT):c.1084-19C>T	EOGT	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1137351	NM_001278689.2(EOGT):c.624T>C (p.Phe208=)	EOGT	Single nucleotide variant (synonymous variant)	Adams-Oliver syndrome 4	GLikely benign
Select item 1131971	NM_001278689.2(EOGT):c.471C>A (p.Thr157=)	EOGT	Single nucleotide variant (synonymous variant +1 more)	Adams-Oliver syndrome 4	GLikely benign
Select item 1094446	NM_001278689.2(EOGT):c.312-10T>C	EOGT	Single nucleotide variant (intron variant)	Adams-Oliver syndrome 4	GLikely benign
Select item 1078409	NM_001278689.2(EOGT):c.210+10A>C	EOGT	Single nucleotide variant (intron variant)	Adams-Oliver syndrome 4	GLikely benign
Select item 1054717	NM_001278689.2(EOGT):c.1404G>A (p.Trp468Ter)	EOGT (W384* +1 more)	Single nucleotide variant (nonsense +1 more)	Adams-Oliver syndrome 4	GUncertain significance
Select item 1050810	NM_001278689.2(EOGT):c.548T>A (p.Ile183Asn)	EOGT (I183N)	Single nucleotide variant (missense variant +1 more)	Adams-Oliver syndrome 4	GUncertain significance
Select item 1035062	NM_001278689.2(EOGT):c.308G>T (p.Gly103Val)	EOGT (G103V)	Single nucleotide variant (missense variant +1 more)	Adams-Oliver syndrome 4	GUncertain significance
Select item 1021870	NM_001278689.2(EOGT):c.1153-3C>T	EOGT	Single nucleotide variant (intron variant)	Adams-Oliver syndrome 4	GUncertain significance
Select item 1010701	NM_001278689.2(EOGT):c.1114C>T (p.Arg372Trp)	EOGT (R288W +1 more)	Single nucleotide variant (missense variant +1 more)	Adams-Oliver syndrome 4 +1 more	GUncertain significance
Select item 946322	NM_001278689.2(EOGT):c.616T>A (p.Ser206Thr)	EOGT (S206T)	Single nucleotide variant (missense variant +1 more)	Adams-Oliver syndrome 4	GUncertain significance

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