"Ambry Genetics"[submitter] AND "U2AF1L4"[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2320121	NM_001040425.3(U2AF1L4):c.*74T>C	U2AF1L4 (S188P)	Single nucleotide variant (3 prime UTR variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2597051	NM_001040425.3(U2AF1L4):c.*45C>T	U2AF1L4 (S178F)	Single nucleotide variant (3 prime UTR variant +3 more)	Inborn genetic diseases	GLikely benign
Select item 2253342	NM_001040425.3(U2AF1L4):c.*30A>G	U2AF1L4 (N173S)	Single nucleotide variant (3 prime UTR variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2366568	NM_001040425.3(U2AF1L4):c.467C>T (p.Pro156Leu)	U2AF1L4 (P137S +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2343823	NM_001040425.3(U2AF1L4):c.458G>T (p.Arg153Leu)	U2AF1L4 (A134S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2219544	NM_001040425.3(U2AF1L4):c.440A>G (p.Tyr147Cys)	U2AF1L4 (M128V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2599867	NM_001040425.3(U2AF1L4):c.399G>T (p.Met133Ile)	U2AF1L4 (M133I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2320047	NM_001040425.3(U2AF1L4):c.371G>C (p.Cys124Ser)	U2AF1L4 (C124S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2519888	NM_001040425.3(U2AF1L4):c.257G>C (p.Arg86Pro)	U2AF1L4 (R86P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2261489	NM_001040425.3(U2AF1L4):c.235C>T (p.Arg79Trp)	U2AF1L4 (R79W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2347896	NM_001040425.3(U2AF1L4):c.229A>G (p.Lys77Glu)	U2AF1L4 (K77E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2377246	NM_001040425.3(U2AF1L4):c.176A>G (p.Glu59Gly)	U2AF1L4 (E59G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2599905	NM_001040425.3(U2AF1L4):c.99C>G (p.Cys33Trp)	U2AF1L4 (C33W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2210217	NM_001040425.3(U2AF1L4):c.76G>T (p.Val26Phe)	U2AF1L4 (V26F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2549684	NM_001040425.3(U2AF1L4):c.8A>G (p.Glu3Gly)	U2AF1L4 (E3G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance