"GeneDx"[submitter] AND "PMVK"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60040	GRCh38/hg38 1q21.3-22(chr1:154575689-155292901)x1	LOC129931527, LOC129931528 +91 more	Copy number loss	See cases	GPathogenic
Select item 1259917	NM_006556.4(PMVK):c.*48del	PMVK	Deletion (3 prime UTR variant)	not provided	GBenign
Select item 1254973	NM_006556.4(PMVK):c.*44T>G	PMVK	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1180221	NM_006556.4(PMVK):c.373G>A (p.Val125Met)	PMVK (V111M +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1270881	NM_006556.4(PMVK):c.312+210ATTT[12]	PMVK	Microsatellite (intron variant)	not provided	GBenign
Select item 1257436	NM_006556.4(PMVK):c.312+210ATTT[11]	PMVK	Microsatellite (intron variant)	not provided	GBenign
Select item 1278538	NM_006556.4(PMVK):c.147A>G (p.Glu49=)	PMVK (N14S)	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 1227224	NM_006556.4(PMVK):c.96-288T>C	PMVK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246024	NM_006556.3(PMVK):c.-107T>C	PMVK	Single nucleotide variant (intron variant)	not provided	GBenign

ClinVar