"Ambry Genetics"[submitter] AND "PLEKHB1"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2560807	NM_021200.3(PLEKHB1):c.76G>A (p.Gly26Ser)	PLEKHB1 (G26S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2458907	NM_021200.3(PLEKHB1):c.118C>T (p.Arg40Trp)	PLEKHB1 (R21W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2389940	NM_021200.3(PLEKHB1):c.184G>A (p.Glu62Lys)	PLEKHB1 (E43K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2607248	NM_021200.3(PLEKHB1):c.222C>A (p.Asp74Glu)	PLEKHB1 (D74E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2287197	NM_021200.3(PLEKHB1):c.386C>T (p.Thr129Ile)	PLEKHB1 (T110I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2352920	NM_021200.3(PLEKHB1):c.394C>T (p.Pro132Ser)	PLEKHB1 (P113S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2544221	NM_021200.3(PLEKHB1):c.403G>A (p.Ala135Thr)	PLEKHB1 (A116T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2589635	NM_021200.3(PLEKHB1):c.502G>A (p.Val168Ile)	PLEKHB1 (V133I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2530218	NM_021200.3(PLEKHB1):c.523T>C (p.Tyr175His)	PLEKHB1 (Y156H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2317561	NM_021200.3(PLEKHB1):c.529G>A (p.Glu177Lys)	PLEKHB1 (E142K +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2269928	NM_021200.3(PLEKHB1):c.604G>A (p.Val202Met)	PLEKHB1 (V167M +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2357507	NM_021200.3(PLEKHB1):c.617T>G (p.Ile206Arg)	PLEKHB1 (I187R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2375173	NM_021200.3(PLEKHB1):c.640A>C (p.Ser214Arg)	PLEKHB1 (S214R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance