"PreventionGenetics, part of Exact Sciences"[submitter] AND "PPM1K"[ge - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 473876	NM_152542.5(PPM1K):c.978G>A (p.Val326=)	PPM1K	Single nucleotide variant (synonymous variant)	Maple syrup urine disease, mild variant +1 more	GBenign
Select item 3038532	NM_152542.5(PPM1K):c.975G>A (p.Ala325=)	PPM1K	Single nucleotide variant (synonymous variant)	PPM1K-related disorder	GLikely benign
Select item 729996	NM_152542.5(PPM1K):c.708-5A>G	PPM1K	Single nucleotide variant (intron variant)	Maple syrup urine disease, mild variant +1 more	GLikely benign
Select item 792280	NM_152542.5(PPM1K):c.657C>T (p.Pro219=)	PPM1K	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 791728	NM_152542.5(PPM1K):c.629G>A (p.Arg210Gln)	PPM1K (R210Q)	Single nucleotide variant (missense variant)	Maple syrup urine disease, mild variant +1 more	GLikely benign
Select item 3034408	NM_152542.5(PPM1K):c.580C>T (p.Leu194=)	PPM1K	Single nucleotide variant (synonymous variant)	PPM1K-related disorder	GLikely benign
Select item 655372	NM_152542.5(PPM1K):c.542-3T>C	PPM1K	Single nucleotide variant (intron variant)	Maple syrup urine disease, mild variant +1 more	GConflicting classifications of pathogenicity
Select item 3053642	NM_152542.5(PPM1K):c.390T>C (p.Gly130=)	PPM1K	Single nucleotide variant (synonymous variant)	PPM1K-related disorder	GLikely benign

ClinVar