PLEKHA8[gene] and "single gene"[properties] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3214840	NM_001197026.2(PLEKHA8):c.43T>C (p.Trp15Arg)	PLEKHA8 (W15R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3214841	NM_001197026.2(PLEKHA8):c.47A>G (p.Gln16Arg)	PLEKHA8 (Q16R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3214846	NM_001197026.2(PLEKHA8):c.73G>C (p.Gly25Arg)	PLEKHA8 (G25R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2286548	NM_001197026.2(PLEKHA8):c.76A>G (p.Ile26Val)	PLEKHA8 (I26V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2536794	NM_001197026.2(PLEKHA8):c.78A>G (p.Ile26Met)	PLEKHA8 (I26M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2521825	NM_001197026.2(PLEKHA8):c.329C>G (p.Thr110Ser)	PLEKHA8 (T110S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3214838	NM_001197026.2(PLEKHA8):c.392T>C (p.Val131Ala)	PLEKHA8 (V131A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3214839	NM_001197026.2(PLEKHA8):c.403A>G (p.Lys135Glu)	PLEKHA8 (K135E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2348697	NM_001197026.2(PLEKHA8):c.450T>A (p.Asp150Glu)	PLEKHA8 (D150E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3214842	NM_001197026.2(PLEKHA8):c.488T>C (p.Leu163Pro)	PLEKHA8 (L163P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2527691	NM_001197026.2(PLEKHA8):c.517G>A (p.Ala173Thr)	PLEKHA8 (A173T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3214843	NM_001197026.2(PLEKHA8):c.557C>T (p.Pro186Leu)	PLEKHA8 (P17L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2294527	NM_001197026.2(PLEKHA8):c.659G>A (p.Cys220Tyr)	PLEKHA8 (C21Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214845	NM_001197026.2(PLEKHA8):c.730T>C (p.Tyr244His)	PLEKHA8 (Y75H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328797	NM_001197026.2(PLEKHA8):c.748A>G (p.Ile250Val)	PLEKHA8 (I250V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317407	NM_001197026.2(PLEKHA8):c.752A>G (p.Asp251Gly)	PLEKHA8 (D52G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610017	NM_001197026.2(PLEKHA8):c.808A>G (p.Ile270Val)	PLEKHA8 (I101V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207087	NM_001197026.2(PLEKHA8):c.851A>G (p.Asn284Ser)	PLEKHA8 (N115S +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2215296	NM_001197026.2(PLEKHA8):c.868G>A (p.Gly290Arg)	PLEKHA8 (G121R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325989	NM_001197026.2(PLEKHA8):c.902G>T (p.Trp301Leu)	PLEKHA8 (W301L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352400	NM_001197026.2(PLEKHA8):c.939T>A (p.Ser313Arg)	PLEKHA8 (S313R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459820	NM_001197026.2(PLEKHA8):c.1058T>C (p.Val353Ala)	PLEKHA8 (V353A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387057	NM_001197026.2(PLEKHA8):c.1077G>A (p.Met359Ile)	PLEKHA8 (M160I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477349	NM_001197026.2(PLEKHA8):c.1428C>G (p.Asp476Glu)	PLEKHA8 (D476E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2232340	NM_001197026.2(PLEKHA8):c.1439A>G (p.Glu480Gly)	PLEKHA8 (E480G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360861	NM_001197026.2(PLEKHA8):c.1534G>A (p.Gly512Arg)	PLEKHA8 (G512R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 26