"GeneDx"[submitter] AND "AGTR1"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57982	GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3	LOC129937944, LOC129937945 +630 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	BDH1, C3orf33 +1449 more	Copy number gain	See cases	GPathogenic
Select item 1233874	NM_000685.5(AGTR1):c.-47-11020G>A	AGTR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220644	NM_000685.5(AGTR1):c.-47-1303T>C	AGTR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278984	NM_000685.5(AGTR1):c.-47-1134T>C	AGTR1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1232440	NM_000685.5(AGTR1):c.-47-931T>C	AGTR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252496	NM_000685.5(AGTR1):c.-47-866T>C	AGTR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227022	NM_000685.5(AGTR1):c.-47-313T>A	AGTR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 256759	NM_000685.5(AGTR1):c.573C>T (p.Leu191=)	AGTR1	Single nucleotide variant (synonymous variant)	Renal tubular dysgenesis +2 more	GBenign
Select item 256758	NM_000685.5(AGTR1):c.1062A>G (p.Pro354=)	AGTR1	Single nucleotide variant (synonymous variant)	Renal tubular dysgenesis +2 more	GBenign
Select item 343677	NM_000685.5(AGTR1):c.*70T>G	AGTR1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 18065	NM_000685.5(AGTR1):c.*86A>C	AGTR1	Single nucleotide variant (3 prime UTR variant)	Essential hypertension, genetic +3 more	GBenign/Likely benign
Select item 253377	GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4	PTX3, MIR1224 +220 more	Copy number gain	See cases	GPathogenic