C0266313[trait identifier] AND "OMIM"[submitter] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 13124	NM_000537.4(REN):c.689G>A (p.Arg230Lys)	REN (R230K)	Single nucleotide variant (missense variant)	Renal tubular dysgenesis	GPathogenic
Select item 50211	NM_000537.4(REN):c.404C>A (p.Ser135Tyr)	REN (S135Y)	Single nucleotide variant (missense variant)	Renal tubular dysgenesis	GPathogenic
Select item 13123	NM_000537.4(REN):c.145C>T (p.Arg49Ter)	REN (R49*)	Single nucleotide variant (nonsense)	Renal tubular dysgenesis of genetic origin +1 more	GPathogenic
Select item 50210	NM_000537.4(REN):c.127C>T (p.Arg43Ter)	REN (R43*)	Single nucleotide variant (nonsense)	Familial juvenile hyperuricemic nephropathy type 2 +1 more	GPathogenic
Select item 18072	NM_000029.4(AGT):c.1290del (p.Phe430fs)	AGT	Deletion	Renal tubular dysgenesis	GPathogenic
Select item 18070	NM_000029.4(AGT):c.1124G>A (p.Arg375Gln)	AGT	Single nucleotide variant	Renal tubular dysgenesis	GPathogenic
Select item 18068	NM_000029.4(AGT):c.803T>C (p.Met268Thr)	AGT	Single nucleotide variant	Renal tubular dysgenesis +2 more	GBenign
Select item 18071	NM_000029.4(AGT):c.604C>T (p.Gln202Ter)	AGT	Single nucleotide variant	Renal tubular dysgenesis	GPathogenic
Select item 296090	NM_001382817.3(AGT):c.-30-3273G>A	AGT	Single nucleotide variant (intron variant)	Renal tubular dysgenesis +1 more	GBenign
Select item 18066	NM_000685.5(AGTR1):c.110dup (p.Ile38fs)	AGTR1 (I38fs +1 more)	Duplication (frameshift variant)	Renal tubular dysgenesis	GLikely pathogenic
Select item 50206	NM_000685.5(AGTR1):c.251G>A (p.Trp84Ter)	AGTR1 (W84* +1 more)	Single nucleotide variant (nonsense)	Renal tubular dysgenesis	GUncertain significance
Select item 50207	NM_000685.5(AGTR1):c.376C>T (p.Arg126Ter)	AGTR1 (R126*)	Single nucleotide variant (nonsense)	Renal tubular dysgenesis	GPathogenic
Select item 18067	NM_000685.5(AGTR1):c.845C>T (p.Thr282Met)	AGTR1 (T282M)	Single nucleotide variant (missense variant)	Renal tubular dysgenesis	GPathogenic
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 18063	NM_000789.4(ACE):c.798C>G (p.Tyr266Ter)	ACE (Y266*)	Single nucleotide variant (nonsense)	Renal tubular dysgenesis	GPathogenic
Select item 18064	NM_000789.4(ACE):c.1319_1322del (p.Leu440fs)	ACE (L440fs)	Deletion (frameshift variant)	Renal tubular dysgenesis	GPathogenic
Select item 50208	NM_000789.4(ACE):c.1486C>T (p.Arg496Ter)	ACE (R496*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 50209	NM_000789.4(ACE):c.2371C>T (p.Arg791Ter)	ACE (R791* +1 more)	Single nucleotide variant (nonsense)	Renal tubular dysgenesis of genetic origin +3 more	GPathogenic