NR2C1[gene] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 154380	GRCh38/hg38 12q21.33-24.11(chr12:91044318-109133210)x3	ABTB3, ACACB +712 more	Copy number gain	See cases	GPathogenic
Select item 2537969	NM_003297.4(NR2C1):c.1382G>C (p.Ser461Thr)	NR2C1 (S461T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300941	NM_003297.4(NR2C1):c.1381A>G (p.Ser461Gly)	NR2C1 (S461G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201909	NM_003297.4(NR2C1):c.1309G>A (p.Gly437Ser)	NR2C1 (G437S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539673	NM_003297.4(NR2C1):c.1244A>T (p.Gln415Leu)	NR2C1 (Q415L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329492	NM_003297.4(NR2C1):c.1186T>A (p.Ser396Thr)	NR2C1 (S396T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412324	NM_003297.4(NR2C1):c.1052A>G (p.His351Arg)	NR2C1 (H351R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2643220	NM_003297.4(NR2C1):c.1032G>A (p.Ala344=)	NR2C1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2249237	NM_003297.4(NR2C1):c.985A>G (p.Lys329Glu)	NR2C1 (K329E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221260	NM_003297.4(NR2C1):c.973G>A (p.Asp325Asn)	NR2C1 (D325N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552988	NM_003297.4(NR2C1):c.952G>C (p.Gly318Arg)	NR2C1 (G318R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201914	NM_003297.4(NR2C1):c.899G>A (p.Ser300Asn)	NR2C1 (S300N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201913	NM_003297.4(NR2C1):c.798G>T (p.Gln266His)	NR2C1 (Q266H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250948	NM_003297.4(NR2C1):c.719T>C (p.Met240Thr)	NR2C1 (M240T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201912	NM_003297.4(NR2C1):c.709G>C (p.Asp237His)	NR2C1 (D237H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373505	NM_003297.4(NR2C1):c.704T>C (p.Leu235Pro)	NR2C1 (L235P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350544	NM_003297.4(NR2C1):c.697A>G (p.Thr233Ala)	NR2C1 (T233A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2250947	NM_003297.4(NR2C1):c.676G>C (p.Asp226His)	NR2C1 (D226H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232908	NM_003297.4(NR2C1):c.658A>G (p.Thr220Ala)	NR2C1 (T220A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280186	NM_003297.4(NR2C1):c.641G>A (p.Arg214His)	NR2C1 (R214H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300939	NM_003297.4(NR2C1):c.604G>A (p.Ala202Thr)	NR2C1 (A202T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 816803	NM_003297.4(NR2C1):c.544+1G>C	NR2C1	Single nucleotide variant (splice donor variant)	Flexion contracture	GLikely pathogenic
Select item 2286450	NM_003297.4(NR2C1):c.515G>C (p.Arg172Thr)	NR2C1 (R172T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201911	NM_003297.4(NR2C1):c.259C>T (p.Pro87Ser)	NR2C1 (P87S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300940	NM_003297.4(NR2C1):c.190T>G (p.Ser64Ala)	NR2C1 (S64A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592782	NM_003297.4(NR2C1):c.188A>G (p.Asp63Gly)	NR2C1 (D63G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324497	NM_003297.4(NR2C1):c.164G>A (p.Ser55Asn)	NR2C1 (S55N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332003	NM_003297.4(NR2C1):c.155C>G (p.Ser52Cys)	NR2C1 (S52C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464854	NM_003297.4(NR2C1):c.119A>T (p.Gln40Leu)	NR2C1 (Q40L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213993	NM_003297.4(NR2C1):c.113A>G (p.Asn38Ser)	NR2C1 (N38S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454351	NM_003297.4(NR2C1):c.109C>T (p.His37Tyr)	NR2C1 (H37Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201915	NM_003297.4(NR2C1):c.94G>C (p.Val32Leu)	NR2C1 (V32L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201908	NM_003297.4(NR2C1):c.12A>G (p.Ile4Met)	NR2C1 (I4M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic

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Items: 37