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

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2330741	NM_017542.5(POGK):c.13G>T (p.Ala5Ser)	POGK (A5S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2492644	NM_017542.5(POGK):c.23T>G (p.Leu8Arg)	POGK (L8R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3216219	NM_017542.5(POGK):c.33C>A (p.Ser11Arg)	POGK (S11R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2554349	NM_017542.5(POGK):c.169T>A (p.Ser57Thr)	POGK (S57T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2615234	NM_017542.5(POGK):c.217C>T (p.Arg73Trp)	POGK (R73W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2336921	NM_017542.5(POGK):c.230G>A (p.Arg77Lys)	POGK (R77K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2507986	NM_017542.5(POGK):c.388G>T (p.Asp130Tyr)	POGK (D12Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216220	NM_017542.5(POGK):c.458G>A (p.Arg153His)	POGK (R153H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543936	NM_017542.5(POGK):c.467G>A (p.Arg156Gln)	POGK (R156Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258506	NM_017542.5(POGK):c.533G>C (p.Gly178Ala)	POGK (G178A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611237	NM_017542.5(POGK):c.579C>A (p.Ser193Arg)	POGK (S75R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308242	NM_017542.5(POGK):c.734A>G (p.His245Arg)	POGK (H245R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460882	NM_017542.5(POGK):c.743G>A (p.Arg248Gln)	POGK (R130Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533773	NM_017542.5(POGK):c.764A>G (p.Lys255Arg)	POGK (K137R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559321	NM_017542.5(POGK):c.952G>A (p.Asp318Asn)	POGK (D318N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592371	NM_017542.5(POGK):c.1018G>T (p.Val340Phe)	POGK (V222F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308241	NM_017542.5(POGK):c.1147G>A (p.Glu383Lys)	POGK (E383K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404140	NM_017542.5(POGK):c.1286G>T (p.Ser429Ile)	POGK (S311I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551932	NM_017542.5(POGK):c.1441G>A (p.Val481Met)	POGK (V363M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391938	NM_017542.5(POGK):c.1651G>T (p.Val551Phe)	POGK (V433F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488275	NM_017542.5(POGK):c.1670G>A (p.Ser557Asn)	POGK (S557N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216218	NM_017542.5(POGK):c.1680T>G (p.Ser560Arg)	POGK (S560R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402874	NM_017542.5(POGK):c.1807G>A (p.Glu603Lys)	POGK (E603K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308243	NM_017542.5(POGK):c.1811G>A (p.Ser604Asn)	POGK (S486N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 24