"Ambry Genetics"[submitter] AND "RBP5"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2548722	NM_031491.4(RBP5):c.232G>T (p.Val78Leu)	RBP5 (V29L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2239237	NM_031491.4(RBP5):c.215A>G (p.Glu72Gly)	RBP5 (E72G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2392013	NM_031491.4(RBP5):c.191A>G (p.Gln64Arg)	RBP5 (Q15R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2329643	NM_031491.4(RBP5):c.149T>A (p.Met50Lys)	RBP5 (M50K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2402181	NM_031491.4(RBP5):c.146A>C (p.His49Pro)	RBP5 (H49P)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2268582	NM_031491.4(RBP5):c.118G>A (p.Asp40Asn)	RBP5 (D40N)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2378329	NM_031491.4(RBP5):c.112A>C (p.Lys38Gln)	RBP5 (K38Q)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2368391	NM_031491.4(RBP5):c.88G>A (p.Val30Met)	RBP5 (V30M)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2383909	NM_031491.4(RBP5):c.50T>C (p.Met17Thr)	RBP5 (M17T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2245823	NM_031491.4(RBP5):c.28C>T (p.Arg10Cys)	RBP5 (R10C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign