"Women's Health and Genetics/Laboratory Corporation of America, LabCor - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 538890	NM_007254.4(PNKP):c.1288_1298+6dup	PNKP	Duplication (splice donor variant)	Developmental and epileptic encephalopathy, 12 +2 more	GUncertain significance
Select item 3069066	NM_007254.4(PNKP):c.789_801del (p.Gly264fs)	PNKP (G264fs)	Deletion (frameshift variant)	PNKP-related disorders	GPathogenic
Select item 198549	NM_007254.4(PNKP):c.650C>G (p.Thr217Ser)	PNKP (T217S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 206388	NM_007254.4(PNKP):c.610C>T (p.Arg204Ter)	PNKP (R204*)	Single nucleotide variant (nonsense)	not specified +1 more	GPathogenic/Likely pathogenic
Select item 159794	NM_007254.4(PNKP):c.416G>A (p.Arg139His)	PNKP (R139H)	Single nucleotide variant (missense variant)	PNKP-related condition +7 more	GConflicting classifications of pathogenicity
Select item 159792	NM_007254.4(PNKP):c.188C>T (p.Ala63Val)	PNKP (A63V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity

ClinVar