"Ambry Genetics"[submitter] AND "PLEKHB2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2622767	NM_001100623.2(PLEKHB2):c.15G>C (p.Lys5Asn)	PLEKHB2 (K5N)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2319187	NM_001100623.2(PLEKHB2):c.32G>A (p.Arg11Gln)	PLEKHB2 (R11Q)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2470857	NM_001100623.2(PLEKHB2):c.53G>A (p.Arg18His)	PLEKHB2 (R18H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2327625	NM_001100623.2(PLEKHB2):c.101A>G (p.Tyr34Cys)	PLEKHB2 (Y34C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2374983	NM_001100623.2(PLEKHB2):c.169C>T (p.Arg57Cys)	PLEKHB2 (R57C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2329967	NM_001100623.2(PLEKHB2):c.200C>A (p.Pro67His)	PLEKHB2 (P67H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2335379	NM_001100623.2(PLEKHB2):c.538T>C (p.Tyr180His)	PLEKHB2 (Y131H +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

ClinVar