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

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2341793	NM_001366977.1(PNCK):c.866G>A (p.Arg289Gln)	PNCK (R289Q +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3215873	NM_001366977.1(PNCK):c.865C>T (p.Arg289Trp)	PNCK (R289W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215872	NM_001366977.1(PNCK):c.797G>A (p.Arg266Gln)	PNCK (R349Q +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3215877	NM_001366977.1(PNCK):c.713A>G (p.Asp238Gly)	PNCK (D238G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215876	NM_001366977.1(PNCK):c.598G>A (p.Val200Ile)	PNCK (V283I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324273	NM_001366977.1(PNCK):c.581A>C (p.Asp194Ala)	PNCK (D194A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463153	NM_001366977.1(PNCK):c.334G>A (p.Asp112Asn)	PNCK (D195N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 522922	NM_001366977.1(PNCK):c.229G>A (p.Glu77Lys)	PNCK (E94K +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3215875	NM_001366977.1(PNCK):c.115C>T (p.His39Tyr)	PNCK (H39Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222352	NM_001366977.1(PNCK):c.112G>T (p.Ala38Ser)	PNCK (A38S +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2322911	NM_001366977.1(PNCK):c.-2A>G	PNCK (D17G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2401761	NM_001039582.3(PNCK):c.94T>C (p.Trp32Arg)	PNCK (W32R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2367015	NM_001039582.3(PNCK):c.38G>A (p.Cys13Tyr)	PNCK (C13Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance