"Ambry Genetics"[submitter] AND "KPNA5"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2555161	NM_001366306.2(KPNA5):c.40A>C (p.Met14Leu)	KPNA5 (M11L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116184	NM_001366306.2(KPNA5):c.42G>A (p.Met14Ile)	KPNA5 (M11I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285158	NM_001366306.2(KPNA5):c.259G>A (p.Asp87Asn)	KPNA5 (D107N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492504	NM_001366306.2(KPNA5):c.322A>G (p.Arg108Gly)	KPNA5 (R128G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276841	NM_001366306.2(KPNA5):c.673A>G (p.Asn225Asp)	KPNA5 (N222D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601324	NM_001366306.2(KPNA5):c.842A>C (p.Tyr281Ser)	KPNA5 (Y281S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463319	NM_001366306.2(KPNA5):c.913C>G (p.Leu305Val)	KPNA5 (L302V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298488	NM_001366306.2(KPNA5):c.1251A>G (p.Ile417Met)	KPNA5 (I437M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266142	NM_001366306.2(KPNA5):c.1577T>C (p.Ile526Thr)	KPNA5 (I546T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2287572	NM_001366306.2(KPNA5):c.1586A>G (p.Gln529Arg)	KPNA5 (Q526R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance