Related gene-specific medical variations for Gene (Select 4306) - ClinVar - NCBI

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2686051	NM_000901.5(NR3C2):c.2438C>T (p.Ala813Val)	NR3C2 (A696V +1 more)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 2573008	NM_000901.5(NR3C2):c.1350del (p.Pro451fs)	NR3C2 (P451fs)	Deletion (frameshift variant +1 more)	Autosomal dominant pseudohypoaldosteronism type 1	GLikely pathogenic
Select item 1809718	NM_000901.5(NR3C2):c.2457C>A (p.Tyr819Ter)	NR3C2 (Y702* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1342478	NM_000901.5(NR3C2):c.102del (p.Glu35fs)	NR3C2 (E35fs)	Deletion (frameshift variant +1 more)	Autosomal dominant pseudohypoaldosteronism type 1	GLikely pathogenic
Select item 1098666	NM_000901.5(NR3C2):c.758A>T (p.His253Leu)	NR3C2 (H253L)	Single nucleotide variant (missense variant +1 more)	See cases	GUncertain significance
Select item 980697	GRCh37/hg19 4q31.23(chr4:149002223-149039656)x1	NR3C2	Copy number loss	not provided	GUncertain significance
Select item 903412	NM_000901.5(NR3C2):c.-243G>T	LOC129993215, NR3C2	Single nucleotide variant (5 prime UTR variant +2 more)	Autosomal dominant pseudohypoaldosteronism type 1	GUncertain significance
Select item 903411	NM_000901.5(NR3C2):c.-238C>T	LOC129993215, NR3C2	Single nucleotide variant (5 prime UTR variant +2 more)	Autosomal dominant pseudohypoaldosteronism type 1	GUncertain significance
Select item 686678	GRCh37/hg19 4q31.23(chr4:149087640-149284001)x1	NR3C2	Copy number loss	not provided	GPathogenic
Select item 591630	NM_000901.5(NR3C2):c.2018G>A (p.Arg673Gln)	NR3C2 (R673Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 562976	GRCh37/hg19 4q31.23(chr4:149309976-149452658)x1	NR3C2	Copy number loss	not provided	GPathogenic
Select item 347749	NM_000901.4(NR3C2):c.-348C>G	LOC129993215, NR3C2	Single nucleotide variant (intron variant)	Autosomal dominant pseudohypoaldosteronism type 1	GUncertain significance
Select item 347748	NM_000901.4(NR3C2):c.-328C>T	LOC129993215, NR3C2	Single nucleotide variant (intron variant)	Autosomal dominant pseudohypoaldosteronism type 1	GUncertain significance
Select item 347747	NM_000901.4(NR3C2):c.-275C>T	LOC129993215, NR3C2	Single nucleotide variant (intron variant)	Autosomal dominant pseudohypoaldosteronism type 1	GLikely benign
Select item 347746	NM_000901.4(NR3C2):c.-281_-276CCCTGC[2]	LOC129993215, NR3C2	Microsatellite (intron variant)	Autosomal dominant pseudohypoaldosteronism type 1	GLikely benign
Select item 347745	NM_000901.5(NR3C2):c.-249C>T	LOC129993215, NR3C2	Single nucleotide variant (non-coding transcript variant +2 more)	Autosomal dominant pseudohypoaldosteronism type 1	GUncertain significance
Select item 347744	NM_000901.5(NR3C2):c.-228T>C	LOC129993215, NR3C2	Single nucleotide variant (5 prime UTR variant +2 more)	Autosomal dominant pseudohypoaldosteronism type 1	GUncertain significance
Select item 347743	NM_000901.5(NR3C2):c.-213G>A	LOC129993215, NR3C2	Single nucleotide variant (5 prime UTR variant +2 more)	Autosomal dominant pseudohypoaldosteronism type 1	GBenign
Select item 221991	GRCh37/hg19 4q31.23(chr4:149135444-149320303)x3	NR3C2	Copy number gain	See cases	GLikely pathogenic