"Athena Diagnostics"[submitter] AND "PNKP"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 138726	NM_007254.4(PNKP):c.1557C>T (p.Ser519=)	PNKP	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 138725	NM_007254.4(PNKP):c.1522G>A (p.Glu508Lys)	PNKP (E508K)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 95481	NM_007254.4(PNKP):c.1497G>A (p.Leu499=)	PNKP	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12 +3 more	GBenign/Likely benign
Select item 538888	NM_007254.4(PNKP):c.1492A>C (p.Ile498Leu)	PNKP (I498L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 12 +1 more	GUncertain significance
Select item 95479	NM_007254.4(PNKP):c.1385G>A (p.Arg462Gln)	PNKP (R462Q)	Single nucleotide variant (missense variant)	Microcephaly, seizures, and developmental delay +4 more	GConflicting classifications of pathogenicity
Select item 95478	NM_007254.4(PNKP):c.1360C>A (p.Leu454Met)	PNKP (L454M)	Single nucleotide variant (missense variant)	Microcephaly, seizures, and developmental delay +5 more	GConflicting classifications of pathogenicity
Select item 95476	NM_007254.4(PNKP):c.1127-8C>T	PNKP	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 392824	NM_007254.4(PNKP):c.1062C>T (p.Leu354=)	PNKP	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
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 138717	NM_007254.4(PNKP):c.939T>C (p.Phe313=)	PNKP	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12 +4 more	GBenign/Likely benign
Select item 448094	NM_007254.4(PNKP):c.789G>A (p.Thr263=)	PNKP	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12 +2 more	GLikely benign
Select item 95483	NM_007254.4(PNKP):c.538C>A (p.Arg180Ser)	PNKP (R180S)	Single nucleotide variant (missense variant)	Microcephaly, seizures, and developmental delay +6 more	GBenign/Likely benign
Select item 159794	NM_007254.4(PNKP):c.416G>A (p.Arg139His)	PNKP (R139H)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity