"Ambry Genetics"[submitter] AND "PLEKHA1"[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2260725	NM_001001974.4(PLEKHA1):c.118G>A (p.Val40Met)	PLEKHA1 (V40M)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2325927	NM_001001974.4(PLEKHA1):c.197A>C (p.Lys66Thr)	PLEKHA1 (S48R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2406435	NM_001001974.4(PLEKHA1):c.199G>A (p.Val67Ile)	PLEKHA1 (V67I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3214743	NM_001001974.4(PLEKHA1):c.284A>G (p.Asn95Ser)	PLEKHA1 (N53S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2211096	NM_001001974.4(PLEKHA1):c.289C>G (p.Gln97Glu)	PLEKHA1 (Q55E +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2223190	NM_001001974.4(PLEKHA1):c.370A>C (p.Asn124His)	PLEKHA1 (N121H +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2340189	NM_001001974.4(PLEKHA1):c.381C>A (p.Asn127Lys)	PLEKHA1 (N107K +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2400875	NM_001001974.4(PLEKHA1):c.388C>T (p.Arg130Cys)	PLEKHA1 (R130C +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2321811	NM_001001974.4(PLEKHA1):c.388C>G (p.Arg130Gly)	PLEKHA1 (R130G +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2330167	NM_001001974.4(PLEKHA1):c.411G>C (p.Lys137Asn)	PLEKHA1 (K126N +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2551358	NM_001001974.4(PLEKHA1):c.634T>C (p.Tyr212His)	PLEKHA1 (Y164H +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2332407	NM_001001974.4(PLEKHA1):c.697C>G (p.Arg233Gly)	PLEKHA1 (R222G +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362364	NM_001001974.4(PLEKHA1):c.788C>T (p.Thr263Met)	PLEKHA1 (T243M +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2316250	NM_001001974.4(PLEKHA1):c.811G>T (p.Ala271Ser)	PLEKHA1 (A229S +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2496358	NM_001001974.4(PLEKHA1):c.883G>A (p.Gly295Ser)	PLEKHA1 (G253S +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3214745	NM_001001974.4(PLEKHA1):c.898T>G (p.Ser300Ala)	PLEKHA1 (S289A +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2343201	NM_001001974.4(PLEKHA1):c.931C>T (p.His311Tyr)	PLEKHA1 (H291Y +3 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3214746	NM_001001974.4(PLEKHA1):c.941G>A (p.Arg314His)	PLEKHA1 (R266H +11 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2312244	NM_001001974.4(PLEKHA1):c.950A>G (p.Asn317Ser)	PLEKHA1 (N269S +11 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2533031	NM_001001974.4(PLEKHA1):c.999G>T (p.Leu333Phe)	PLEKHA1 (W299L +11 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3214741	NM_001001974.4(PLEKHA1):c.1185C>G (p.Asp395Glu)	PLEKHA1 (D375E +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2341798	NM_001001974.4(PLEKHA1):c.1186G>A (p.Asp396Asn)	PLEKHA1 (D348N +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2375923	NM_001001974.4(PLEKHA1):c.1199C>T (p.Pro400Leu)	PLEKHA1 (P400L +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3214742	NM_001001974.4(PLEKHA1):c.1205G>A (p.Ser402Asn)	PLEKHA1 (S354N +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance

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Items: 24