ClinVar for MedGen (Select 480821) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1527981	NM_007046.4(EMILIN1):c.151del (p.Arg51fs)	EMILIN1 (R51fs)	Deletion (frameshift variant)	Arterial tortuosity	GPathogenic
Select item 1527980	NM_007046.4(EMILIN1):c.831dup (p.Ala278fs)	EMILIN1 (A278fs)	Duplication (frameshift variant)	Arterial tortuosity	GPathogenic
Select item 1344492	NM_007046.4(EMILIN1):c.119dup (p.Ser40fs)	EMILIN1 (S40fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1343813	NM_007046.4(EMILIN1):c.1606C>T (p.Gln536Ter)	EMILIN1 (Q536*)	Single nucleotide variant (nonsense)	Arterial tortuosity	GPathogenic
Select item 1343812	NM_007046.4(EMILIN1):c.2457_2482dup (p.Gln828fs)	EMILIN1 (Q828fs)	Duplication (frameshift variant)	Arterial tortuosity	GPathogenic
Select item 523406	NM_001110556.2(FLNA):c.7023+4A>T	FLNA	Single nucleotide variant (intron variant)	Vascular dilatation +2 more	GLikely pathogenic
Select item 374148	NM_001613.4(ACTA2):c.1003C>G (p.Pro335Ala)	ACTA2, ACTA2-AS1 (P335A +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GUncertain significance

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