"NR3C2-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3042426	NM_000901.5(NR3C2):c.2799+1G>A	NR3C2	Single nucleotide variant (splice donor variant)	Inborn genetic diseases +1 more	GPathogenic/Likely pathogenic
Select item 3032488	NM_000901.5(NR3C2):c.2466G>A (p.Thr822=)	NR3C2	Single nucleotide variant (synonymous variant)	NR3C2-related disorder	GLikely benign
Select item 3054968	NM_000901.5(NR3C2):c.1953A>G (p.Arg651=)	NR3C2	Single nucleotide variant (synonymous variant +1 more)	NR3C2-related disorder	GLikely benign
Select item 430357	NM_000901.5(NR3C2):c.1951C>T (p.Arg651Ter)	NR3C2 (R651*)	Single nucleotide variant (nonsense +1 more)	Autosomal dominant pseudohypoaldosteronism type 1 +3 more	GPathogenic/Likely pathogenic
Select item 781734	NM_000901.5(NR3C2):c.1331A>C (p.Asn444Thr)	NR3C2 (N444T)	Single nucleotide variant (missense variant +1 more)	NR3C2-related disorder +2 more	GBenign
Select item 903350	NM_000901.5(NR3C2):c.1272A>G (p.Ser424=)	NR3C2	Single nucleotide variant (synonymous variant +1 more)	NR3C2-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 347733	NM_000901.5(NR3C2):c.1092G>A (p.Thr364=)	NR3C2	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant pseudohypoaldosteronism type 1 +2 more	GBenign
Select item 3047094	NM_000901.5(NR3C2):c.714C>T (p.Ser238=)	NR3C2	Single nucleotide variant (synonymous variant +1 more)	NR3C2-related disorder	GLikely benign
Select item 2161547	NM_000901.5(NR3C2):c.555C>T (p.Ile185=)	NR3C2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 2632160	NM_000901.5(NR3C2):c.532C>A (p.Arg178Ser)	NR3C2 (R178S)	Single nucleotide variant (missense variant +1 more)	NR3C2-related disorder	GUncertain significance
Select item 2633109	NM_000901.5(NR3C2):c.410T>C (p.Val137Ala)	NR3C2 (V137A)	Single nucleotide variant (missense variant +1 more)	NR3C2-related disorder	GUncertain significance
Select item 2633752	NM_000901.5(NR3C2):c.68C>T (p.Ser23Phe)	NR3C2 (S23F)	Single nucleotide variant (missense variant +1 more)	NR3C2-related disorder	GUncertain significance
Select item 3058120	NM_000901.5(NR3C2):c.-1G>T	NR3C2	Single nucleotide variant (5 prime UTR variant +1 more)	NR3C2-related disorder	GLikely benign