C4540478[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1033494	NM_018489.3(ASH1L):c.8642G>T (p.Arg2881Leu)	ASH1L (R2881L +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 52	GUncertain significance
Select item 1033493	NM_018489.3(ASH1L):c.8447A>G (p.Lys2816Arg)	ASH1L (K2821R +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 52	GUncertain significance
Select item 1033492	NM_018489.3(ASH1L):c.7763A>G (p.Tyr2588Cys)	ASH1L (Y2593C +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 52	GUncertain significance
Select item 2582493	NM_018489.3(ASH1L):c.7513G>A (p.Ala2505Thr)	ASH1L (A2505T +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 52	GUncertain significance
Select item 1033491	NM_018489.3(ASH1L):c.7291A>G (p.Asn2431Asp)	ASH1L (N2431D +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 52	GUncertain significance
Select item 2582343	NM_018489.3(ASH1L):c.6640C>T (p.Arg2214Ter)	ASH1L (R2214* +1 more)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 52	GPathogenic
Select item 1028602	NM_018489.3(ASH1L):c.6104-3C>G	ASH1L (S2039*)	Single nucleotide variant (nonsense +1 more)	Intellectual disability, autosomal dominant 52	GUncertain significance
Select item 2441694	NM_018489.3(ASH1L):c.5575C>T (p.Gln1859Ter)	ASH1L (Q1859*)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 52	GLikely pathogenic
Select item 1028600	NM_018489.3(ASH1L):c.5051G>A (p.Arg1684Gln)	ASH1L (R1684Q)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 52	GUncertain significance
Select item 1028599	NM_018489.3(ASH1L):c.4835G>C (p.Gly1612Ala)	ASH1L (G1612A)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 52	GUncertain significance
Select item 1028598	NM_018489.3(ASH1L):c.4601A>G (p.His1534Arg)	ASH1L (H1534R)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 52	GUncertain significance
Select item 1033490	NM_018489.3(ASH1L):c.3917G>A (p.Arg1306Gln)	ASH1L (R1306Q)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 52	GUncertain significance
Select item 1033489	NM_018489.3(ASH1L):c.3397G>C (p.Val1133Leu)	ASH1L (V1133L)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 52 +1 more	GUncertain significance
Select item 2441679	NM_018489.3(ASH1L):c.2450G>A (p.Ser817Asn)	ASH1L (S817N)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 52	GUncertain significance
Select item 985252	NM_018489.3(ASH1L):c.2162A>C (p.Lys721Thr)	ASH1L (K721T)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 52 +1 more	GUncertain significance
Select item 1028596	NM_018489.3(ASH1L):c.2014T>G (p.Phe672Val)	ASH1L (F672V)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 52	GUncertain significance
Select item 1033488	NM_018489.3(ASH1L):c.1404TGT[1] (p.Val470del)	ASH1L (V470del)	Microsatellite (inframe_deletion)	Intellectual disability, autosomal dominant 52	GUncertain significance
Select item 1028597	NM_018489.3(ASH1L):c.251A>G (p.Asn84Ser)	ASH1L (N84S)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 52	GUncertain significance