ClinVar for MedGen (Select 1622196) - ClinVar

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2690892	NM_005862.3(STAG1):c.3241C>T (p.Arg1081Ter)	STAG1 (R1081*)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 47	GLikely pathogenic
Select item 2664813	NM_005862.3(STAG1):c.3581C>T (p.Ala1194Val)	STAG1 (A1194V)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 47	GUncertain significance
Select item 2580172	NM_005862.3(STAG1):c.1962dup (p.Asp655Ter)	STAG1 (D655*)	Duplication (nonsense)	Intellectual disability, autosomal dominant 47	GLikely pathogenic
Select item 2441671	NM_005862.3(STAG1):c.418C>T (p.Arg140Ter)	STAG1 (R140*)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 47	GLikely pathogenic
Select item 2436501	NM_005862.3(STAG1):c.1132A>G (p.Ile378Val)	STAG1 (I378V)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 47	GUncertain significance
Select item 2436500	NM_005862.3(STAG1):c.3401A>C (p.Gln1134Pro)	STAG1 (Q1134P)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 47	GUncertain significance
Select item 2436499	NM_005862.3(STAG1):c.2061C>T (p.Asp687=)	STAG1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 47	GUncertain significance
Select item 2436498	NM_005862.3(STAG1):c.254T>C (p.Val85Ala)	STAG1 (V85A)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 47	GUncertain significance
Select item 2436497	NM_005862.3(STAG1):c.139A>G (p.Asn47Asp)	STAG1 (N47D)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 47	GUncertain significance
Select item 2436496	NM_005862.3(STAG1):c.2334G>T (p.Gln778His)	STAG1 (Q778H)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 47	GUncertain significance
Select item 2421650	NM_005862.3(STAG1):c.284A>G (p.Lys95Arg)	STAG1 (K95R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1973520	NM_005862.3(STAG1):c.2038-5dup	STAG1	Duplication (intron variant)	Intellectual disability, autosomal dominant 47 +1 more	GConflicting classifications of pathogenicity
Select item 1805625	NM_005862.3(STAG1):c.1082G>T (p.Arg361Ile)	STAG1 (R361I)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 47	GLikely benign
Select item 1805574	NM_005862.3(STAG1):c.2547G>C (p.Glu849Asp)	STAG1 (E849D)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 47	GUncertain significance
Select item 1709726	NM_005862.3(STAG1):c.1716dup (p.Ile573fs)	STAG1 (I573fs)	Duplication (frameshift variant)	Intellectual disability, autosomal dominant 47	GLikely pathogenic
Select item 1709088	NM_005862.3(STAG1):c.3691C>T (p.Arg1231Ter)	STAG1 (R1231*)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 47	GLikely pathogenic
Select item 1707613	NM_005862.3(STAG1):c.1353A>T (p.Leu451Phe)	STAG1 (L451F)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 47	GUncertain significance
Select item 1699065	NM_005862.3(STAG1):c.1857G>C (p.Gln619His)	STAG1 (Q619H)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 47	GLikely benign
Select item 1696594	NM_005862.3(STAG1):c.395-8T>C	STAG1	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 47	GUncertain significance
Select item 1684541	NM_005862.3(STAG1):c.1894G>A (p.Val632Ile)	STAG1 (V632I)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 47	GUncertain significance
Select item 1679663	NM_005862.3(STAG1):c.1189G>C (p.Val397Leu)	STAG1 (V397L)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 47 +1 more	GConflicting classifications of pathogenicity
Select item 1621374	NM_005862.3(STAG1):c.1402C>T (p.Leu468=)	STAG1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1343341	NM_005862.3(STAG1):c.2170A>G (p.Ile724Val)	STAG1 (I724V)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 47	GUncertain significance
Select item 1341903	NM_005862.3(STAG1):c.676+5379A>G	STAG1	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 47	GUncertain significance
Select item 1341837	NM_005862.3(STAG1):c.2196+4167T>G	STAG1	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 47	GUncertain significance
Select item 1341760	NM_005862.3(STAG1):c.298-8776C>T	STAG1	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 47	GUncertain significance
Select item 1333942	NM_005862.3(STAG1):c.625G>C (p.Gly209Arg)	STAG1 (G209R)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 47	GLikely pathogenic
Select item 1325144	NM_005862.3(STAG1):c.513del (p.Gln170_Trp171insTer)	STAG1	Deletion (nonsense)	Intellectual disability, autosomal dominant 47	GLikely pathogenic
Select item 1239490	NM_005862.3(STAG1):c.2457C>T (p.Phe819=)	STAG1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 47 +1 more	GBenign
Select item 1098685	NM_005862.3(STAG1):c.1056A>T (p.Lys352Asn)	STAG1 (K352N)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 47	GUncertain significance
Select item 1032367	NM_005862.3(STAG1):c.471+4T>G	STAG1	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 47	GUncertain significance
Select item 1032366	NM_005862.3(STAG1):c.2254A>C (p.Ile752Leu)	STAG1 (I752L)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 47	GUncertain significance
Select item 1032365	NM_005862.3(STAG1):c.1919A>G (p.Tyr640Cys)	STAG1 (Y640C)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 47	GUncertain significance
Select item 1028435	NM_005862.3(STAG1):c.42_44dup (p.Asn14_Glu15insAsp)	STAG1	Duplication (inframe_insertion)	Intellectual disability, autosomal dominant 47 +1 more	GConflicting classifications of pathogenicity
Select item 1028434	NM_005862.3(STAG1):c.2306T>C (p.Val769Ala)	STAG1 (V769A)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 47 +1 more	GUncertain significance
Select item 1028433	NM_005862.3(STAG1):c.2285T>C (p.Leu762Ser)	STAG1 (L762S)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 47	GUncertain significance
Select item 1028432	NM_005862.3(STAG1):c.2077T>C (p.Ser693Pro)	STAG1 (S693P)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 47	GUncertain significance
Select item 1028431	NM_005862.3(STAG1):c.1442C>A (p.Ala481Glu)	STAG1 (A481E)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 47	GUncertain significance
Select item 996953	NM_005862.3(STAG1):c.3104T>C (p.Met1035Thr)	STAG1 (M1035T)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 47 +2 more	GConflicting classifications of pathogenicity
Select item 995415	NM_005862.3(STAG1):c.391C>T (p.Arg131Ter)	STAG1 (R131*)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 47	GPathogenic
Select item 982954	NM_005862.3(STAG1):c.2647A>T (p.Met883Leu)	STAG1 (M883L)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 47	GUncertain significance
Select item 802013	NM_005862.3(STAG1):c.260del (p.Leu87fs)	STAG1 (L87fs)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 47	GPathogenic
Select item 633008	NM_005862.3(STAG1):c.2557dup (p.Glu853fs)	STAG1 (E853fs)	Duplication (frameshift variant)	Intellectual disability, autosomal dominant 47	GLikely pathogenic
Select item 559649	NM_005862.3(STAG1):c.3261del (p.Lys1087fs)	STAG1 (K1087fs)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 47	GLikely pathogenic
Select item 523199	GRCh37/hg19 3q22.1-22.3(chr3:132642704-136360844)x1	EPHB1, KY +17 more	Copy number loss	Intellectual disability, autosomal dominant 47	GLikely pathogenic
Select item 523198	GRCh38/hg38 3q22.2-22.3(chr3:135423479-136961152)x1	IL20RB, IL20RB-AS1 +26 more	Copy number loss	Intellectual disability, autosomal dominant 47	GLikely pathogenic
Select item 523197	GRCh38/hg38 3q22.2-22.3(chr3:135343568-136642002)x1	LOC129937632, LOC129937633 +11 more	Copy number loss	Intellectual disability, autosomal dominant 47	GLikely pathogenic
Select item 523188	NM_005862.3(STAG1):c.253G>A (p.Val85Ile)	STAG1 (V85I)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 47	GUncertain significance
Select item 523187	NM_005862.3(STAG1):c.1129C>T (p.Arg377Cys)	STAG1 (R377C)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 47	GLikely pathogenic
Select item 523186	NM_005862.3(STAG1):c.2009_2012del (p.Asn670fs)	STAG1 (N670fs)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 47	GLikely pathogenic
Select item 440451	NM_005862.3(STAG1):c.2936A>G (p.Lys979Arg)	STAG1 (K979R)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 47	GLikely pathogenic
Select item 437901	NM_005862.3(STAG1):c.1736dup (p.Ser580fs)	STAG1 (S580fs)	Duplication (frameshift variant)	Intellectual disability	GUncertain significance
Select item 437900	NM_005862.3(STAG1):c.1460_1464dup (p.Trp489fs)	STAG1 (W489fs)	Duplication (frameshift variant)	STAG1-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 437899	NM_005862.3(STAG1):c.1118G>A (p.Arg373Gln)	STAG1 (R373Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 437898	NM_005862.3(STAG1):c.646A>G (p.Arg216Gly)	STAG1 (R216G)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 47	GLikely pathogenic
Select item 437897	NM_005862.3(STAG1):c.1433A>C (p.His478Pro)	STAG1 (H478P)	Single nucleotide variant (missense variant)	STAG1-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 437896	NC_000003.11:g.136254742_136427833del	STAG1	Deletion	Intellectual disability, autosomal dominant 47	GPathogenic

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Items: 57