"Fulgent Genetics, Fulgent Genetics"[submitter] AND "AGTR1"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 902832	NM_000685.5(AGTR1):c.113T>C (p.Ile38Thr)	AGTR1 (I73T +1 more)	Single nucleotide variant (missense variant)	Renal tubular dysgenesis +2 more	GUncertain significance
Select item 343670	NM_000685.5(AGTR1):c.340G>A (p.Ala114Thr)	AGTR1 (A149T +1 more)	Single nucleotide variant (missense variant)	Renal tubular dysgenesis of genetic origin +3 more	GUncertain significance
Select item 1179033	NM_000685.5(AGTR1):c.599dup (p.Asn200fs)	AGTR1 (N200fs)	Duplication (frameshift variant)	Essential hypertension +2 more	GLikely pathogenic
Select item 900270	NM_000685.5(AGTR1):c.697C>A (p.Pro233Thr)	AGTR1 (P233T +1 more)	Single nucleotide variant (missense variant)	Renal tubular dysgenesis +2 more	GUncertain significance
Select item 343674	NM_000685.5(AGTR1):c.893A>G (p.Asn298Ser)	AGTR1 (N333S +1 more)	Single nucleotide variant (missense variant)	Renal tubular dysgenesis of genetic origin +3 more	GUncertain significance
Select item 1369328	NM_000685.5(AGTR1):c.925T>C (p.Phe309Leu)	AGTR1 (F309L)	Single nucleotide variant (missense variant)	Essential hypertension, genetic +2 more	GUncertain significance
Select item 1581655	NM_000685.5(AGTR1):c.1017C>T (p.Tyr339=)	AGTR1	Single nucleotide variant (synonymous variant)	Essential hypertension, genetic +2 more	GLikely benign
Select item 1482663	NM_000685.5(AGTR1):c.1080A>G (p.Ter360Trp)	AGTR1	Single nucleotide variant (stop lost)	not provided +2 more	GUncertain significance
Select item 18065	NM_000685.5(AGTR1):c.*86A>C	AGTR1	Single nucleotide variant (3 prime UTR variant)	Renal tubular dysgenesis +3 more	GBenign/Likely benign