"PreventionGenetics, part of Exact Sciences"[submitter] AND "CNPY3-GNM - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3047364	NM_006586.5(CNPY3):c.50TGC[10] (p.Leu25_Pro26insLeu)	CNPY3, CNPY3-GNMT	Microsatellite (inframe insertion +3 more)	CNPY3-related disorder	GLikely benign
Select item 3060774	NM_006586.5(CNPY3):c.50TGC[8] (p.Leu25del)	CNPY3, CNPY3-GNMT (L22del +1 more)	Microsatellite (inframe deletion +3 more)	CNPY3-related disorder	GBenign
Select item 3052940	NM_006586.5(CNPY3):c.658G>A (p.Ala220Thr)	CNPY3, CNPY3-GNMT (A131T +2 more)	Single nucleotide variant (missense variant +2 more)	CNPY3-related disorder	GLikely benign
Select item 3032401	NM_006586.5(CNPY3):c.774C>T (p.Pro258=)	CNPY3, CNPY3-GNMT	Single nucleotide variant (synonymous variant +2 more)	CNPY3-related disorder	GLikely benign
Select item 1168628	NM_018960.6(GNMT):c.12C>T (p.Ser4=)	CNPY3-GNMT, GNMT	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GBenign/Likely benign
Select item 1642526	NM_018960.6(GNMT):c.319G>A (p.Ala107Thr)	CNPY3-GNMT, GNMT (A107T +1 more)	Single nucleotide variant (missense variant +2 more)	GNMT-related disorder +1 more	GBenign
Select item 1115131	NM_018960.6(GNMT):c.373G>A (p.Val125Met)	CNPY3-GNMT, GNMT (V125M +2 more)	Single nucleotide variant (missense variant +1 more)	GNMT-related disorder +1 more	GLikely benign

ClinVar