"Ambry Genetics"[submitter] AND "KPNA1"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2411068	NM_002264.4(KPNA1):c.1537A>G (p.Ile513Val)	WDR5B-DT, KPNA1 (I513V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2336289	NM_002264.4(KPNA1):c.1426T>G (p.Tyr476Asp)	KPNA1, WDR5B-DT (Y476D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2265181	NM_002264.4(KPNA1):c.1258G>A (p.Val420Ile)	KPNA1, WDR5B-DT (V420I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2483890	NM_002264.4(KPNA1):c.889G>A (p.Val297Ile)	KPNA1 (V297I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2536028	NM_002264.4(KPNA1):c.772G>T (p.Val258Leu)	KPNA1 (V258L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2367142	NM_002264.4(KPNA1):c.636C>G (p.Ile212Met)	KPNA1 (I212M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2592452	NM_002264.4(KPNA1):c.271A>T (p.Ile91Leu)	KPNA1 (I91L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2245622	NM_002264.4(KPNA1):c.224T>C (p.Met75Thr)	KPNA1 (M75T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance