"Ambry Genetics"[submitter] AND "ASH2L"[gene] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2513519	NM_004674.5(ASH2L):c.11C>A (p.Ala4Glu)	ASH2L, LOC130000218 (A4E)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3130344	NM_004674.5(ASH2L):c.29A>C (p.Gln10Pro)	ASH2L, LOC130000218 (Q10P)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2548841	NM_004674.5(ASH2L):c.89G>T (p.Gly30Val)	ASH2L (G30V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3130341	NM_004674.5(ASH2L):c.104T>C (p.Val35Ala)	ASH2L (V35A)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2321422	NM_004674.5(ASH2L):c.107C>T (p.Ala36Val)	ASH2L (A36V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2283233	NM_004674.5(ASH2L):c.163C>T (p.Pro55Ser)	ASH2L (P55S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2235837	NM_004674.5(ASH2L):c.175G>A (p.Glu59Lys)	ASH2L, LOC130000219 (E59K)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2295615	NM_004674.5(ASH2L):c.201G>T (p.Leu67Phe)	ASH2L (L67F)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2307406	NM_004674.5(ASH2L):c.214G>A (p.Gly72Ser)	ASH2L (G72S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2234268	NM_004674.5(ASH2L):c.337G>A (p.Val113Ile)	ASH2L (V19I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2616687	NM_004674.5(ASH2L):c.541C>G (p.Arg181Gly)	ASH2L (R42G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613359	NM_004674.5(ASH2L):c.671T>C (p.Val224Ala)	ASH2L (V85A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319195	NM_004674.5(ASH2L):c.758A>C (p.Lys253Thr)	ASH2L (K114T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558971	NM_004674.5(ASH2L):c.784A>G (p.Ser262Gly)	ASH2L (S123G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480697	NM_004674.5(ASH2L):c.1085G>C (p.Cys362Ser)	ASH2L (C223S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521513	NM_004674.5(ASH2L):c.1123G>A (p.Ala375Thr)	ASH2L (A236T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604476	NM_004674.5(ASH2L):c.1246G>A (p.Val416Ile)	ASH2L (V277I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275259	NM_004674.5(ASH2L):c.1352T>C (p.Leu451Ser)	ASH2L (L357S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130342	NM_004674.5(ASH2L):c.1610C>T (p.Pro537Leu)	ASH2L (P398L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549337	NM_004674.5(ASH2L):c.1664A>G (p.Lys555Arg)	ASH2L (K416R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130343	NM_004674.5(ASH2L):c.1696A>G (p.Ile566Val)	ASH2L (I427V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2367812	NM_004674.5(ASH2L):c.1738C>T (p.Pro580Ser)	ASH2L (P580S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308822	NM_004674.5(ASH2L):c.1751A>G (p.Tyr584Cys)	ASH2L (Y445C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 23