"Clinical Genetics, Academic Medical Center"[submitter] AND "GLMN"[gen - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1221423	NM_053274.3(GLMN):c.1668+19_1668+20del	GLMN	Deletion (intron variant)	not provided	GBenign
Select item 987245	NM_053274.3(GLMN):c.1470_1473del (p.Asn490fs)	GLMN (N476fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 298137	NM_053274.3(GLMN):c.977+7T>A	GLMN	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 930408	NM_053274.3(GLMN):c.844_847del (p.Leu282fs)	GLMN (L282fs)	Deletion (frameshift variant +1 more)	Glomuvenous malformation +2 more	GPathogenic/Likely pathogenic
Select item 298146	NM_053274.3(GLMN):c.436G>A (p.Ala146Thr)	GLMN (A146T)	Single nucleotide variant (missense variant +1 more)	Glomuvenous malformation +1 more	GBenign
Select item 298147	NM_053274.3(GLMN):c.271G>A (p.Asp91Asn)	GLMN (D91N)	Single nucleotide variant (missense variant +1 more)	Glomuvenous malformation +1 more	GBenign
Select item 523551	NM_053274.3(GLMN):c.108C>A (p.Cys36Ter)	GLMN (C36*)	Single nucleotide variant (nonsense +1 more)	Venous malformation +2 more	GPathogenic
Select item 298150	NM_053274.3(GLMN):c.40-6dup	GLMN	Duplication (intron variant)	Glomuvenous malformation +1 more	GConflicting classifications of pathogenicity
Select item 811575	NM_053274.3(GLMN):c.40-6del	GLMN	Deletion (intron variant)	Glomuvenous malformation +1 more	GBenign

ClinVar