Related gene-specific medical variations for Gene (Select 2908) - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2912076	NM_000176.3(NR3C1):c.192T>G (p.Asp64Glu)	LOC129994918, NR3C1 (D38E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2901555	NM_000176.3(NR3C1):c.266A>G (p.Tyr89Cys)	LOC129994918, NR3C1 (Y63C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2796048	NM_000176.3(NR3C1):c.263T>A (p.Leu88Gln)	LOC129994918, NR3C1 (L3Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2719832	NM_000176.3(NR3C1):c.256A>G (p.Met86Val)	LOC129994918, NR3C1 (M60V +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2575243	NM_000176.3(NR3C1):c.250C>G (p.Leu84Val)	NR3C1, LOC129994918 (L58V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2441908	NM_000176.3(NR3C1):c.2114A>G (p.Glu705Gly)	NR3C1 (E370G +8 more)	Single nucleotide variant (missense variant +1 more)	Glucocorticoid resistance	GUncertain significance
Select item 2434436	NM_000176.3(NR3C1):c.641G>A (p.Arg214Lys)	NR3C1 (R117K +4 more)	Single nucleotide variant (missense variant +1 more)	Glucocorticoid resistance	GUncertain significance
Select item 2432327	NM_000176.3(NR3C1):c.1185-2A>G	NR3C1	Single nucleotide variant (splice acceptor variant)	Glucocorticoid resistance	GLikely pathogenic
Select item 906665	NM_001018077.1(NR3C1):c.-904G>A	LOC129994924, NR3C1	Single nucleotide variant (5 prime UTR variant)	Glucocorticoid resistance	GUncertain significance
Select item 906664	NM_001018077.1(NR3C1):c.-896A>C	LOC129994924, NR3C1	Single nucleotide variant (5 prime UTR variant)	Glucocorticoid resistance	GUncertain significance
Select item 906663	NM_001018077.1(NR3C1):c.-894T>C	LOC129994924, NR3C1	Single nucleotide variant (5 prime UTR variant)	Glucocorticoid resistance	GUncertain significance
Select item 906662	NM_001018077.1(NR3C1):c.-782G>T	LOC129994924, NR3C1	Single nucleotide variant (5 prime UTR variant +1 more)	Glucocorticoid resistance	GUncertain significance
Select item 906661	NM_001018077.1(NR3C1):c.-753G>A	LOC129994924, NR3C1	Single nucleotide variant (5 prime UTR variant +1 more)	Glucocorticoid resistance	GUncertain significance
Select item 906660	NM_001018077.1(NR3C1):c.-745C>T	LOC129994924, NR3C1	Single nucleotide variant (5 prime UTR variant +1 more)	Glucocorticoid resistance	GUncertain significance
Select item 906659	NM_001018077.1(NR3C1):c.-741T>C	LOC129994924, NR3C1	Single nucleotide variant (5 prime UTR variant +1 more)	Glucocorticoid resistance	GUncertain significance
Select item 722582	NM_000176.3(NR3C1):c.193T>G (p.Phe65Val)	LOC129994918, NR3C1 (F65V +1 more)	Single nucleotide variant (missense variant +1 more)	Glucocorticoid resistance +1 more	GBenign/Likely benign
Select item 351376	NM_000176.3(NR3C1):c.289G>A (p.Val97Met)	LOC129994918, NR3C1 (V97M +3 more)	Single nucleotide variant (missense variant +1 more)	Glucocorticoid resistance	GUncertain significance
Select item 161495	NM_000176.3(NR3C1):c.1244G>T (p.Gly415Val)	NR3C1 (G415V +7 more)	Single nucleotide variant (missense variant +1 more)	Malignant tumor of prostate	GUncertain significance