C4540478[trait identifier] AND "Victorian Clinical Genetics Services, - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1698999	NM_018489.3(ASH1L):c.6545G>C (p.Arg2182Thr)	ASH1L (R2182T +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 52	GUncertain significance
Select item 1805374	NM_018489.3(ASH1L):c.5786A>G (p.Gln1929Arg)	ASH1L (Q1929R)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 52	GLikely benign
Select item 1805536	NM_018489.3(ASH1L):c.5369G>A (p.Cys1790Tyr)	ASH1L (C1790Y)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 52	GUncertain significance
Select item 1805343	NM_018489.3(ASH1L):c.5285C>T (p.Pro1762Leu)	ASH1L (P1762L)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 52	GUncertain significance
Select item 1805393	NM_018489.3(ASH1L):c.5260A>G (p.Ser1754Gly)	ASH1L (S1754G)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 52	GUncertain significance
Select item 1805424	NM_018489.3(ASH1L):c.4546C>T (p.Arg1516Cys)	ASH1L (R1516C)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 52	GUncertain significance
Select item 1805863	NM_018489.3(ASH1L):c.4484C>T (p.Ser1495Phe)	ASH1L (S1495F)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1805299	NM_018489.3(ASH1L):c.4289G>T (p.Gly1430Val)	ASH1L (G1430V)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 52	GLikely pathogenic
Select item 1805332	NM_018489.3(ASH1L):c.3913C>T (p.His1305Tyr)	ASH1L (H1305Y)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 52	GUncertain significance
Select item 1805340	NM_018489.3(ASH1L):c.2951G>A (p.Arg984His)	ASH1L (R984H)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 52	GUncertain significance
Select item 1806033	NM_018489.3(ASH1L):c.2407T>G (p.Ser803Ala)	ASH1L (S803A)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 52	GUncertain significance
Select item 1805325	NM_018489.3(ASH1L):c.407G>C (p.Cys136Ser)	ASH1L (C136S)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 52	GUncertain significance
Select item 1805808	NM_018489.3(ASH1L):c.398A>G (p.Asn133Ser)	ASH1L (N133S)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 52 +1 more	GUncertain significance