"Baylor Genetics"[submitter] AND "PNKP"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1033198	NM_007254.4(PNKP):c.1227_1228del (p.Cys409_Glu410delinsTer)	PNKP	Microsatellite (nonsense)	Ataxia - oculomotor apraxia type 4	GPathogenic
Select item 839982	NM_007254.4(PNKP):c.1091G>A (p.Ser364Asn)	PNKP (S364N)	Single nucleotide variant (missense variant)	Ataxia - oculomotor apraxia type 4 +1 more	GUncertain significance
Select item 206401	NM_007254.4(PNKP):c.1029+2T>C	PNKP	Single nucleotide variant (splice donor variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 1027736	NM_007254.4(PNKP):c.896C>T (p.Pro299Leu)	PNKP (P299L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 12 +1 more	GUncertain significance
Select item 652349	NM_007254.4(PNKP):c.811G>A (p.Glu271Lys)	PNKP (E271K)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 12 +1 more	GUncertain significance
Select item 206391	NM_007254.4(PNKP):c.670C>T (p.Arg224Cys)	PNKP (R224C)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 436354	NM_007254.4(PNKP):c.636+1G>T	PNKP	Single nucleotide variant (splice donor variant)	Microcephaly, seizures, and developmental delay +3 more	GPathogenic/Likely pathogenic

ClinVar