"Ambry Genetics"[submitter] AND "PLEKHA5"[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2338905	NM_001256470.2(PLEKHA5):c.85A>G (p.Ile29Val)	PLEKHA5 (I29V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2336430	NM_001256470.2(PLEKHA5):c.410A>G (p.His137Arg)	PLEKHA5 (H137R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2536076	NM_001256470.2(PLEKHA5):c.442G>C (p.Ala148Pro)	PLEKHA5 (A148P +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2318898	NM_001256470.2(PLEKHA5):c.644T>A (p.Leu215Gln)	PLEKHA5 (L215Q +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2329427	NM_001256470.2(PLEKHA5):c.860C>T (p.Thr287Ile)	PLEKHA5 (T138I +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2483173	NM_001256470.2(PLEKHA5):c.1190G>A (p.Arg397His)	PLEKHA5 (R234H +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2291258	NM_001256470.2(PLEKHA5):c.1355A>T (p.His452Leu)	PLEKHA5 (H344L +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2237517	NM_001256470.2(PLEKHA5):c.1553A>G (p.Tyr518Cys)	PLEKHA5 (Y410C +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2402278	NM_001256470.2(PLEKHA5):c.1615A>C (p.Ile539Leu)	PLEKHA5 (I376L +5 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2609826	NM_001256470.2(PLEKHA5):c.1639A>T (p.Ile547Phe)	PLEKHA5 (I433F +5 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2601288	NM_001256470.2(PLEKHA5):c.1697G>A (p.Arg566Gln)	PLEKHA5 (R417Q +5 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2547880	NM_001256470.2(PLEKHA5):c.1792C>A (p.Pro598Thr)	PLEKHA5 (P435T +6 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2606372	NM_001256470.2(PLEKHA5):c.1840C>A (p.Pro614Thr)	PLEKHA5 (P500T +6 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2552650	NM_001256470.2(PLEKHA5):c.1991T>G (p.Ile664Ser)	PLEKHA5 (I550S +5 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2299037	NM_001256470.2(PLEKHA5):c.2356A>T (p.Asn786Tyr)	PLEKHA5 (N518Y +22 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2593381	NM_001256470.2(PLEKHA5):c.2438G>A (p.Arg813Gln)	PLEKHA5 (R620Q +22 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2286040	NM_001256470.2(PLEKHA5):c.2470G>C (p.Glu824Gln)	PLEKHA5 (E563Q +25 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2514250	NM_001256470.2(PLEKHA5):c.2551A>G (p.Thr851Ala)	PLEKHA5 (T583A +27 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2556970	NM_001256470.2(PLEKHA5):c.2630A>C (p.Lys877Thr)	PLEKHA5 (K631T +27 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2361505	NM_001256470.2(PLEKHA5):c.2665A>G (p.Met889Val)	PLEKHA5 (M628V +29 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2465504	NM_001256470.2(PLEKHA5):c.3049C>T (p.Pro1017Ser)	PLEKHA5 (P686S +37 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2340792	NM_001256470.2(PLEKHA5):c.3064C>A (p.Pro1022Thr)	PLEKHA5 (P1010T +37 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2545221	NM_001256470.2(PLEKHA5):c.3068C>T (p.Thr1023Ile)	PLEKHA5 (T1023I +37 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2337520	NM_001256470.2(PLEKHA5):c.3291C>A (p.Asp1097Glu)	PLEKHA5 (D1022E +37 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2343202	NM_001256470.2(PLEKHA5):c.3338G>C (p.Arg1113Thr)	PLEKHA5 (R1057T +37 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2354344	NM_001256470.2(PLEKHA5):c.3412C>T (p.His1138Tyr)	PLEKHA5 (H1035Y +37 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2496526	NM_001256470.2(PLEKHA5):c.3571A>G (p.Arg1191Gly)	PLEKHA5 (R1020G +37 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2366427	NM_001256470.2(PLEKHA5):c.3610C>T (p.Pro1204Ser)	PLEKHA5 (P1004S +37 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2277790	NM_001256470.2(PLEKHA5):c.3631G>A (p.Ala1211Thr)	PLEKHA5 (A1018T +37 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2470978	NM_001256470.2(PLEKHA5):c.3712G>A (p.Glu1238Lys)	PLEKHA5 (E1003K +37 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2268295	NM_001256470.2(PLEKHA5):c.3721C>T (p.Pro1241Ser)	PLEKHA5 (P1042S +37 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2369181	NM_001256470.2(PLEKHA5):c.3724G>A (p.Glu1242Lys)	PLEKHA5 (E1007K +37 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2287404	NM_001256470.2(PLEKHA5):c.3773C>T (p.Ser1258Phe)	PLEKHA5 (S1059F +37 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance

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Items: 33