ClinVar for Gene (Select 2908) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3900456	NM_000176.3(NR3C1):c.1401A>C (p.Lys467Asn)	NR3C1 (K132N +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3893191	NM_000176.3(NR3C1):c.2009T>C (p.Leu670Pro)	NR3C1 (L335P +8 more)	Single nucleotide variant (missense variant +1 more)	Deficiency of galactokinase	GLikely pathogenic
Select item 3880924	NM_000176.3(NR3C1):c.1591A>T (p.Thr531Ser)	NR3C1 (T216S +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3880923	NM_000176.3(NR3C1):c.442T>C (p.Ser148Pro)	NR3C1 (S59P +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3880922	NM_000176.3(NR3C1):c.752C>T (p.Pro251Leu)	NR3C1 (P225L +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3773895	NM_000176.3(NR3C1):c.1248dup (p.Pro417fs)	NR3C1 (P102fs +7 more)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 3691574	NM_000176.3(NR3C1):c.787C>A (p.Leu263Met)	NR3C1 (L174M +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3632325	NM_000176.3(NR3C1):c.25C>T (p.Pro9Ser)	NR3C1 (P9S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3628568	NM_000176.3(NR3C1):c.1269G>A (p.Val423=)	NR3C1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3624161	NM_000176.3(NR3C1):c.1395C>T (p.Ile465=)	NR3C1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3611055	NM_000176.3(NR3C1):c.376A>G (p.Ile126Val)	NR3C1 (I100V +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3608438	NM_000176.3(NR3C1):c.2331G>A (p.Lys777=)	NR3C1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3608153	NM_000176.3(NR3C1):c.1920C>T (p.Tyr640=)	NR3C1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3607395	NM_000176.3(NR3C1):c.1020C>T (p.Ser340=)	NR3C1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3591860	NM_000176.3(NR3C1):c.87C>G (p.Phe29Leu)	NR3C1 (F29L +1 more)	Single nucleotide variant (missense variant +1 more)	Glucocorticoid resistance	GUncertain significance
Select item 3591859	NM_000176.3(NR3C1):c.89A>G (p.Tyr30Cys)	NR3C1 (Y30C +1 more)	Single nucleotide variant (missense variant +1 more)	Glucocorticoid resistance	GUncertain significance
Select item 3591858	NM_000176.3(NR3C1):c.116T>C (p.Val39Ala)	NR3C1 (V39A +1 more)	Single nucleotide variant (missense variant +1 more)	Glucocorticoid resistance	GUncertain significance
Select item 3591857	NM_000176.3(NR3C1):c.127G>C (p.Ala43Pro)	NR3C1 (A17P +1 more)	Single nucleotide variant (missense variant +1 more)	Glucocorticoid resistance	GUncertain significance
Select item 3591856	NM_000176.3(NR3C1):c.137C>T (p.Pro46Leu)	NR3C1 (P46L +1 more)	Single nucleotide variant (missense variant +1 more)	Glucocorticoid resistance	GUncertain significance
Select item 3591854	NM_000176.3(NR3C1):c.158A>C (p.Gln53Pro)	NR3C1 (Q53P +1 more)	Single nucleotide variant (missense variant +1 more)	Glucocorticoid resistance	GUncertain significance
Select item 3591853	NM_000176.3(NR3C1):c.208G>C (p.Val70Leu)	LOC129994918, NR3C1 (V44L +1 more)	Single nucleotide variant (missense variant +1 more)	Glucocorticoid resistance	GUncertain significance
Select item 3591852	NM_000176.3(NR3C1):c.222G>T (p.Gln74His)	LOC129994918, NR3C1 (Q48H +1 more)	Single nucleotide variant (missense variant +1 more)	Glucocorticoid resistance	GUncertain significance
Select item 3591851	NM_000176.3(NR3C1):c.236C>T (p.Ser79Phe)	LOC129994918, NR3C1 (S79F +1 more)	Single nucleotide variant (missense variant +1 more)	Glucocorticoid resistance	GUncertain significance
Select item 3591850	NM_000176.3(NR3C1):c.292A>G (p.Met98Val)	LOC129994918, NR3C1 (M13V +4 more)	Single nucleotide variant (missense variant +2 more)	Glucocorticoid resistance	GUncertain significance
Select item 3591849	NM_000176.3(NR3C1):c.326A>G (p.Gln109Arg)	NR3C1 (Q83R +4 more)	Single nucleotide variant (missense variant +1 more)	Glucocorticoid resistance	GUncertain significance
Select item 3591848	NM_000176.3(NR3C1):c.335T>G (p.Leu112Arg)	NR3C1 (L86R +4 more)	Single nucleotide variant (missense variant +1 more)	Glucocorticoid resistance	GUncertain significance
Select item 3591847	NM_000176.3(NR3C1):c.338C>T (p.Ser113Phe)	NR3C1 (S16F +4 more)	Single nucleotide variant (missense variant +1 more)	Glucocorticoid resistance	GUncertain significance
Select item 3591845	NM_000176.3(NR3C1):c.352G>A (p.Asp118Asn)	NR3C1 (D118N +4 more)	Single nucleotide variant (missense variant +1 more)	Glucocorticoid resistance	GUncertain significance
Select item 3591844	NM_000176.3(NR3C1):c.373A>C (p.Ser125Arg)	NR3C1 (S40R +4 more)	Single nucleotide variant (missense variant +1 more)	Glucocorticoid resistance	GUncertain significance
Select item 3591843	NM_000176.3(NR3C1):c.420G>T (p.Lys140Asn)	NR3C1 (K51N +4 more)	Single nucleotide variant (missense variant +1 more)	Glucocorticoid resistance	GUncertain significance
Select item 3591842	NM_000176.3(NR3C1):c.454A>C (p.Thr152Pro)	NR3C1 (T67P +4 more)	Single nucleotide variant (missense variant +1 more)	Glucocorticoid resistance	GUncertain significance
Select item 3591841	NM_000176.3(NR3C1):c.487G>A (p.Val163Ile)	NR3C1 (V74I +4 more)	Single nucleotide variant (missense variant +1 more)	Glucocorticoid resistance	GUncertain significance
Select item 3591840	NM_000176.3(NR3C1):c.520A>G (p.Thr174Ala)	NR3C1 (T174A +4 more)	Single nucleotide variant (missense variant +1 more)	Glucocorticoid resistance	GUncertain significance
Select item 3591839	NM_000176.3(NR3C1):c.556A>G (p.Thr186Ala)	NR3C1 (T160A +4 more)	Single nucleotide variant (missense variant +1 more)	Glucocorticoid resistance	GUncertain significance
Select item 3591838	NM_000176.3(NR3C1):c.598T>G (p.Ser200Ala)	NR3C1 (S115A +4 more)	Single nucleotide variant (missense variant +1 more)	Glucocorticoid resistance	GUncertain significance
Select item 3591836	NM_000176.3(NR3C1):c.639G>C (p.Trp213Cys)	NR3C1 (W187C +4 more)	Single nucleotide variant (missense variant +1 more)	Glucocorticoid resistance	GUncertain significance
Select item 3591835	NM_000176.3(NR3C1):c.652T>G (p.Leu218Val)	NR3C1 (L121V +4 more)	Single nucleotide variant (missense variant +1 more)	Glucocorticoid resistance	GUncertain significance
Select item 3591834	NM_000176.3(NR3C1):c.678_679delinsA (p.Pro227fs)	NR3C1 (P130fs +4 more)	Indel (frameshift variant +1 more)	Glucocorticoid resistance	GLikely pathogenic
Select item 3591833	NM_000176.3(NR3C1):c.686C>G (p.Ala229Gly)	NR3C1 (A140G +4 more)	Single nucleotide variant (missense variant +1 more)	Glucocorticoid resistance	GUncertain significance
Select item 3591832	NM_000176.3(NR3C1):c.694G>A (p.Asp232Asn)	NR3C1 (D143N +4 more)	Single nucleotide variant (missense variant +1 more)	Glucocorticoid resistance	GUncertain significance
Select item 3591831	NM_000176.3(NR3C1):c.694G>T (p.Asp232Tyr)	NR3C1 (D143Y +4 more)	Single nucleotide variant (missense variant +1 more)	Glucocorticoid resistance	GUncertain significance
Select item 3591830	NM_000176.3(NR3C1):c.771T>G (p.Ile257Met)	NR3C1 (I168M +4 more)	Single nucleotide variant (missense variant +1 more)	Glucocorticoid resistance	GUncertain significance
Select item 3591829	NM_000176.3(NR3C1):c.775G>A (p.Asp259Asn)	NR3C1 (D162N +4 more)	Single nucleotide variant (missense variant +1 more)	Glucocorticoid resistance	GUncertain significance
Select item 3591828	NM_000176.3(NR3C1):c.782G>A (p.Gly261Glu)	NR3C1 (G164E +4 more)	Single nucleotide variant (missense variant +1 more)	Glucocorticoid resistance	GUncertain significance
Select item 3591827	NM_000176.3(NR3C1):c.794T>C (p.Leu265Ser)	NR3C1 (L239S +4 more)	Single nucleotide variant (missense variant +1 more)	Glucocorticoid resistance	GUncertain significance
Select item 3591825	NM_000176.3(NR3C1):c.968G>T (p.Gly323Val)	NR3C1 (G226V +5 more)	Single nucleotide variant (missense variant +1 more)	Glucocorticoid resistance	GUncertain significance
Select item 3591824	NM_000176.3(NR3C1):c.1066C>A (p.Pro356Thr)	NR3C1 (P21T +7 more)	Single nucleotide variant (missense variant)	Glucocorticoid resistance	GUncertain significance
Select item 3591823	NM_000176.3(NR3C1):c.1205T>G (p.Val402Gly)	NR3C1 (V402G +7 more)	Single nucleotide variant (missense variant +1 more)	Glucocorticoid resistance	GUncertain significance
Select item 3591822	NM_000176.3(NR3C1):c.1237A>G (p.Thr413Ala)	NR3C1 (T328A +7 more)	Single nucleotide variant (missense variant +1 more)	Glucocorticoid resistance	GUncertain significance
Select item 3591821	NM_000176.3(NR3C1):c.1351+19_1351+20del	NR3C1	Microsatellite (intron variant)	Glucocorticoid resistance	GUncertain significance
Select item 3591819	NM_000176.3(NR3C1):c.1405C>T (p.Arg469Ter)	NR3C1 (R470* +8 more)	Single nucleotide variant (nonsense +1 more)	Glucocorticoid resistance	GPathogenic
Select item 3591818	NM_000176.3(NR3C1):c.1450G>T (p.Ala484Ser)	NR3C1 (A149S +8 more)	Single nucleotide variant (missense variant +1 more)	Glucocorticoid resistance	GUncertain significance
Select item 3591817	NM_000176.3(NR3C1):c.1474A>G (p.Lys492Glu)	NR3C1 (K395E +8 more)	Single nucleotide variant (missense variant +1 more)	Glucocorticoid resistance	GUncertain significance
Select item 3591816	NM_000176.3(NR3C1):c.1488A>T (p.Lys496Asn)	NR3C1 (K411N +8 more)	Single nucleotide variant (missense variant +1 more)	Glucocorticoid resistance	GUncertain significance
Select item 3591815	NM_000176.3(NR3C1):c.1560A>G (p.Ile520Met)	NR3C1 (I190M +8 more)	Single nucleotide variant (missense variant +1 more)	Glucocorticoid resistance	GUncertain significance
Select item 3591814	NM_000176.3(NR3C1):c.1596G>C (p.Leu532=)	NR3C1	Single nucleotide variant (non-coding transcript variant +1 more)	Glucocorticoid resistance	GUncertain significance
Select item 3591813	NM_000176.3(NR3C1):c.1611G>A (p.Glu537=)	NR3C1	Single nucleotide variant (synonymous variant +1 more)	Glucocorticoid resistance	GUncertain significance
Select item 3591812	NM_000176.3(NR3C1):c.1685C>T (p.Thr562Met)	NR3C1 (T232M +8 more)	Single nucleotide variant (missense variant +1 more)	Glucocorticoid resistance	GUncertain significance
Select item 3591811	NM_000176.3(NR3C1):c.1776A>G (p.Gln592=)	NR3C1	Single nucleotide variant (synonymous variant +1 more)	Glucocorticoid resistance	GUncertain significance
Select item 3591809	NM_000176.3(NR3C1):c.1783C>T (p.Leu595=)	NR3C1	Single nucleotide variant (synonymous variant +1 more)	Glucocorticoid resistance	GUncertain significance
Select item 3591808	NM_000176.3(NR3C1):c.1835del (p.Ser612fs)	NR3C1 (S277fs +8 more)	Deletion (frameshift variant +1 more)	Glucocorticoid resistance	GPathogenic
Select item 3591807	NM_000176.3(NR3C1):c.1882A>G (p.Ile628Val)	NR3C1 (I313V +8 more)	Single nucleotide variant (missense variant +1 more)	Glucocorticoid resistance	GUncertain significance
Select item 3591806	NM_000176.3(NR3C1):c.2032G>T (p.Asp678Tyr)	NR3C1 (D678Y +8 more)	Single nucleotide variant (missense variant +1 more)	Glucocorticoid resistance	GUncertain significance
Select item 3591805	NM_000176.3(NR3C1):c.2059G>C (p.Asp687His)	NR3C1 (D357H +8 more)	Single nucleotide variant (missense variant +1 more)	Glucocorticoid resistance	GUncertain significance
Select item 3591804	NM_000176.3(NR3C1):c.2159A>G (p.Lys720Arg)	NR3C1 (K385R +8 more)	Single nucleotide variant (missense variant +1 more)	Glucocorticoid resistance	GUncertain significance
Select item 3591803	NM_000176.3(NR3C1):c.2181+3A>G	NR3C1	Single nucleotide variant (intron variant)	Glucocorticoid resistance	GUncertain significance
Select item 3591801	NM_000176.3(NR3C1):c.2186T>C (p.Val729Ala)	NR3C1 (V730A +8 more)	Single nucleotide variant (missense variant +2 more)	Glucocorticoid resistance	GLikely pathogenic
Select item 3591800	NM_000176.3(NR3C1):c.2231C>G (p.Thr744Ser)	NR3C1 (T409S +8 more)	Single nucleotide variant (missense variant +2 more)	Glucocorticoid resistance	GUncertain significance
Select item 3591799	NM_000176.3(NR3C1):c.2273C>T (p.Thr758Ile)	NR3C1 (T661I +8 more)	Single nucleotide variant (missense variant +2 more)	Glucocorticoid resistance	GUncertain significance
Select item 3407672	NM_000176.3(NR3C1):c.155C>G (p.Ser52Cys)	NR3C1 (S26C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3407671	NM_000176.3(NR3C1):c.415C>T (p.Pro139Ser)	NR3C1 (P50S +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3407670	NM_000176.3(NR3C1):c.2276A>G (p.Asn759Ser)	NR3C1 (N429S +8 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3407669	NM_000176.3(NR3C1):c.1142T>C (p.Leu381Pro)	NR3C1 (L296P +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3407668	NM_000176.3(NR3C1):c.1115A>G (p.Asp372Gly)	NR3C1 (D275G +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3407667	NM_000176.3(NR3C1):c.754G>C (p.Asp252His)	NR3C1 (D167H +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3407665	NM_000176.3(NR3C1):c.998A>G (p.His333Arg)	NR3C1 (H18R +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3368399	NM_000176.3(NR3C1):c.2097del (p.Ala700fs)	NR3C1 (A365fs +8 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 3359627	NM_000176.3(NR3C1):c.1331T>A (p.Phe444Tyr)	NR3C1 (F109Y +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3300957	NM_000176.3(NR3C1):c.992T>G (p.Met331Arg)	NR3C1 (M234R +6 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3300956	NM_000176.3(NR3C1):c.640A>G (p.Arg214Gly)	NR3C1 (R129G +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3246454	NC_000005.9:g.(?_142779201)_(142780404_?)del	NR3C1	Deletion	not provided	GPathogenic
Select item 3201949	NM_000176.3(NR3C1):c.993G>C (p.Met331Ile)	NR3C1 (M305I +6 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3201948	NM_000176.3(NR3C1):c.905G>C (p.Cys302Ser)	NR3C1 (C276S +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3201947	NM_000176.3(NR3C1):c.847T>C (p.Phe283Leu)	NR3C1 (F257L +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3201945	NM_000176.3(NR3C1):c.626A>C (p.Asn209Thr)	NR3C1 (N120T +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3201944	NM_000176.3(NR3C1):c.323G>C (p.Gly108Ala)	NR3C1 (G11A +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3201943	NM_000176.3(NR3C1):c.2317C>A (p.Leu773Met)	NR3C1 (L688M +8 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3201942	NM_000176.3(NR3C1):c.2098G>A (p.Ala700Thr)	NR3C1 (A365T +8 more)	Single nucleotide variant (missense variant +1 more)	Glucocorticoid resistance +1 more	GUncertain significance
Select item 3062812	GRCh37/hg19 5q31.3-32(chr5:141566629-147240595)x1	ARHGAP26, DPYSL3 +19 more	Copy number loss	not specified	GPathogenic
Select item 3024808	NM_000176.3(NR3C1):c.2142G>T (p.Arg714=)	NR3C1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2982968	NM_000176.3(NR3C1):c.869_870delinsTT (p.Gly290Val)	NR3C1 (G193V +4 more)	Indel (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2970898	NM_000176.3(NR3C1):c.495A>C (p.Ser165=)	NR3C1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2916241	NM_000176.3(NR3C1):c.141A>G (p.Ser47=)	NR3C1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 +1 more	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)	Glucocorticoid resistance +1 more	GConflicting classifications of pathogenicity
Select item 2885747	NM_000176.3(NR3C1):c.1084G>A (p.Glu362Lys)	NR3C1 (E27K +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2853495	NM_000176.3(NR3C1):c.889C>T (p.Leu297=)	NR3C1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2809432	NM_000176.3(NR3C1):c.1404T>C (p.Ile468=)	NR3C1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2795386	NM_000176.3(NR3C1):c.2023+13C>G	NR3C1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign

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