"New York Genome Center"[submitter] AND "PNKP"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 977440	NM_007254.4(PNKP):c.1558G>C (p.Glu520Gln)	PNKP (E520Q)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 12	GUncertain significance
Select item 992785	NM_007254.4(PNKP):c.1537C>T (p.Arg513Trp)	PNKP (R513W)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 12 +1 more	GUncertain significance
Select item 560654	NM_007254.4(PNKP):c.1389T>G (p.Phe463Leu)	PNKP (F463L)	Single nucleotide variant (missense variant)	Ataxia - oculomotor apraxia type 4 +2 more	GUncertain significance
Select item 206411	NM_007254.4(PNKP):c.1308G>C (p.Gln436His)	PNKP (Q436H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 138721	NM_007254.4(PNKP):c.1298+6G>A	PNKP	Single nucleotide variant (intron variant)	Ataxia - oculomotor apraxia type 4 +3 more	GConflicting classifications of pathogenicity
Select item 1333033	NM_007254.4(PNKP):c.1282G>A (p.Ala428Thr)	PNKP (A428T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 206392	NM_007254.4(PNKP):c.673G>A (p.Gly225Arg)	PNKP (G225R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 12 +3 more	GConflicting classifications of pathogenicity

ClinVar