"Ambry Genetics"[submitter] AND "ARL2BP"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2270740	NM_012106.4(ARL2BP):c.27T>A (p.Phe9Leu)	ARL2BP (F9L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1047827	NM_012106.4(ARL2BP):c.46G>T (p.Ala16Ser)	ARL2BP (A16S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1431047	NM_012106.4(ARL2BP):c.97A>G (p.Met33Val)	ARL2BP (M33V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1500527	NM_012106.4(ARL2BP):c.106G>A (p.Glu36Lys)	ARL2BP (E36K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1382495	NM_012106.4(ARL2BP):c.250C>T (p.Arg84Trp)	ARL2BP (R84W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1367197	NM_012106.4(ARL2BP):c.328G>A (p.Asp110Asn)	ARL2BP (D110N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3315055	NM_012106.4(ARL2BP):c.337C>T (p.Leu113Phe)	ARL2BP (L113F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2608727	NM_012106.4(ARL2BP):c.340A>C (p.Thr114Pro)	ARL2BP (T114P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2295996	NM_012106.4(ARL2BP):c.379G>T (p.Asp127Tyr)	ARL2BP (D127Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1523276	NM_012106.4(ARL2BP):c.458C>T (p.Ser153Phe)	ARL2BP (S153F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance