ClinVar for MedGen (Select 343170) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1030919	NM_000901.5(NR3C2):c.2799+5G>A	NR3C2	Single nucleotide variant (intron variant)	Pseudohyperaldosteronism type 2	GUncertain significance
Select item 932920	NM_000901.5(NR3C2):c.1172A>G (p.Gln391Arg)	NR3C2 (Q391R)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant pseudohypoaldosteronism type 1 +1 more	GUncertain significance
Select item 903348	NM_000901.5(NR3C2):c.1513G>A (p.Glu505Lys)	NR3C2 (E505K)	Single nucleotide variant (missense variant +1 more)	Pseudohyperaldosteronism type 2 +1 more	GUncertain significance
Select item 900826	NM_000901.5(NR3C2):c.334G>C (p.Val112Leu)	NR3C2 (V112L)	Single nucleotide variant (missense variant +1 more)	Pseudohyperaldosteronism type 2 +1 more	GUncertain significance
Select item 900825	NM_000901.5(NR3C2):c.405G>C (p.Gln135His)	NR3C2 (Q135H)	Single nucleotide variant (missense variant +1 more)	Pseudohyperaldosteronism type 2 +1 more	GBenign/Likely benign
Select item 899686	NM_000901.5(NR3C2):c.934A>G (p.Ser312Gly)	NR3C2 (S312G)	Single nucleotide variant (missense variant +1 more)	Pseudohyperaldosteronism type 2 +1 more	GUncertain significance
Select item 776021	NM_000901.5(NR3C2):c.1898-4T>C	NR3C2	Single nucleotide variant (intron variant)	Pseudohyperaldosteronism type 2 +2 more	GBenign/Likely benign
Select item 764102	NM_000901.5(NR3C2):c.1824T>C (p.Asp608=)	NR3C2	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
Select item 430357	NM_000901.5(NR3C2):c.1951C>T (p.Arg651Ter)	NR3C2 (R651*)	Single nucleotide variant (nonsense +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 347732	NM_000901.5(NR3C2):c.1398T>C (p.Tyr466=)	NR3C2	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 347726	NM_000901.5(NR3C2):c.1791A>G (p.Ser597=)	NR3C2	Single nucleotide variant (synonymous variant +1 more)	Pseudohyperaldosteronism type 2 +2 more	GBenign
Select item 347722	NM_000901.5(NR3C2):c.2139T>C (p.Pro713=)	NR3C2	Single nucleotide variant (intron variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 8567	NM_000901.5(NR3C2):c.2839C>T (p.Arg947Ter)	NR3C2 (R947* +1 more)	Single nucleotide variant (nonsense +1 more)	Autosomal dominant pseudohypoaldosteronism type 1 +1 more	GPathogenic