"Ambry Genetics"[submitter] AND "PDZK1"[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3305671	NM_001201325.2(PDZK1):c.1432C>T (p.Leu478Phe)	PDZK1 (L271F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305670	NM_001201325.2(PDZK1):c.1418C>G (p.Ser473Cys)	PDZK1 (S266C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244300	NM_001201325.2(PDZK1):c.1214A>C (p.Glu405Ala)	PDZK1 (E198A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271075	NM_001201325.2(PDZK1):c.1142T>C (p.Leu381Pro)	PDZK1 (L174P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352975	NM_001201325.2(PDZK1):c.994C>T (p.His332Tyr)	PDZK1 (H332Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356093	NM_001201325.2(PDZK1):c.869C>T (p.Ala290Val)	PDZK1 (A179V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596339	NM_001201325.2(PDZK1):c.587T>C (p.Val196Ala)	PDZK1 (V196A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305672	NM_001201325.2(PDZK1):c.542T>C (p.Ile181Thr)	PDZK1 (I181T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2615574	NM_001201325.2(PDZK1):c.415G>A (p.Val139Met)	PDZK1 (V139M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2542704	NM_001201325.2(PDZK1):c.401G>A (p.Arg134Gln)	PDZK1 (R134Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2236123	NM_001201325.2(PDZK1):c.298G>A (p.Val100Met)	PDZK1 (V100M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2472719	NM_001201325.2(PDZK1):c.198A>C (p.Glu66Asp)	PDZK1 (E66D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2235941	NM_001201325.2(PDZK1):c.157G>T (p.Asp53Tyr)	PDZK1 (D53Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2262183	NM_001201325.2(PDZK1):c.140C>T (p.Ala47Val)	PDZK1 (A47V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2391743	NM_001201325.2(PDZK1):c.91G>A (p.Glu31Lys)	PDZK1 (E31K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance