ClinVar for MedGen (Select 88442) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1179033	NM_000685.5(AGTR1):c.599dup (p.Asn200fs)	AGTR1 (N200fs)	Duplication (frameshift variant)	not provided +2 more	GLikely pathogenic
Select item 1033155	NM_000961.4(PTGIS):c.283G>A (p.Asp95Asn)	PTGIS (D95N)	Single nucleotide variant (missense variant)	Essential hypertension	GUncertain significance
Select item 931540	NM_000603.5(NOS3):c.284C>T (p.Thr95Ile)	NOS3 (T95I)	Single nucleotide variant (missense variant)	Essential hypertension	GUncertain significance
Select item 585032	NM_000777.5(CYP3A5):c.1165C>T (p.Pro389Ser)	CYP3A5, ZSCAN25 (P389S +2 more)	Single nucleotide variant (missense variant +2 more)	Essential hypertension	Gnot provided
Select item 219224	NM_003361.3(UMOD):c.-1746T>C	UMOD	Single nucleotide variant (genic upstream transcript variant)	Essential hypertension	Gassociation
Select item 7864	NM_000961.4(PTGIS):c.1358+2T>C	PTGIS	Single nucleotide variant (splice donor variant)	Essential hypertension	GPathogenic

ClinVar