"ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1679500	NM_000184.3(HBG2):c.398A>C (p.Lys133Thr)	HBG2 (K133T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1679463	NM_000184.3(HBG2):c.397A>C (p.Lys133Gln)	HBG2 (K133Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1330947	NM_000184.3(HBG2):c.358G>C (p.Gly120Arg)	HBG2 (G120R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 14989	NM_000184.2(HBG2):c.277C>T (p.His93Tyr)	HBG2, LOC106099065 (H93Y)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 14987	NM_000184.2(HBG2):c.199A>C (p.Lys67Gln)	HBG2, LOC106099065 (K67Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2428585	NM_000184.3(HBG2):c.135C>G (p.Ser45Arg)	HBG2, LOC106099065 (S45R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 14986	NM_000184.2(HBG2):c.122G>A (p.Arg41Lys)	LOC106099065, HBG2 (R41K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 14973	NM_000184.2(HBG2):c.49G>C (p.Gly17Arg)	HBG2, LOC106099065 (G17R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 14984	NC_000011.10:g.5254939G>A	HBG2, LOC106099065	Single nucleotide variant	not provided +1 more	GConflicting classifications of pathogenicity