ClinVar for Gene (Select 2908) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 228

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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	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)	Inborn genetic diseases	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	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	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 2885747	NM_000176.3(NR3C1):c.1084G>A (p.Glu362Lys)	NR3C1 (E27K +7 more)	Single nucleotide variant (missense variant)	not provided +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
Select item 2766069	NM_000176.3(NR3C1):c.804C>T (p.Pro268=)	NR3C1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2722208	NM_000176.3(NR3C1):c.1515A>G (p.Thr505=)	NR3C1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2722206	NM_000176.3(NR3C1):c.1845A>G (p.Gln615=)	NR3C1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2716273	NM_000176.3(NR3C1):c.624G>A (p.Thr208=)	NR3C1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2636367	NM_000176.3(NR3C1):c.1693A>G (p.Met565Val)	NR3C1 (M230V +8 more)	Single nucleotide variant (missense variant +1 more)	NR3C1-related disorder	GUncertain significance
Select item 2622851	NM_000176.3(NR3C1):c.1582C>G (p.Leu528Val)	NR3C1 (L213V +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 2547958	NM_000176.3(NR3C1):c.2151A>C (p.Gln717His)	NR3C1 (Q632H +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2525742	NM_000176.3(NR3C1):c.725A>G (p.Asn242Ser)	NR3C1 (N157S +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2504939	NM_000176.3(NR3C1):c.2185G>A (p.Val729Ile)	NR3C1 (V394I +8 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely pathogenic
Select item 2494584	NM_000176.3(NR3C1):c.1757A>G (p.Asn586Ser)	NR3C1 (N271S +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 2413272	NM_000176.3(NR3C1):c.2061T>G (p.Asp687Glu)	NR3C1 (D352E +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2309408	NM_000176.3(NR3C1):c.1520T>C (p.Val507Ala)	NR3C1 (V481A +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2305901	NM_000176.3(NR3C1):c.706C>A (p.Leu236Ile)	NR3C1 (L210I +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2294739	NM_000176.3(NR3C1):c.299A>G (p.Asn100Ser)	NR3C1 (N11S +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2179215	NM_000176.3(NR3C1):c.417C>G (p.Pro139=)	NR3C1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2140433	NM_000176.3(NR3C1):c.1368A>G (p.Leu456=)	NR3C1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2072934	NM_000176.3(NR3C1):c.549G>A (p.Leu183=)	NR3C1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2026610	NM_000176.3(NR3C1):c.821C>T (p.Pro274Leu)	NR3C1 (P248L +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1990305	NM_000176.3(NR3C1):c.514G>A (p.Gly172Ser)	NR3C1 (G172S +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1902695	NM_000176.3(NR3C1):c.1865G>A (p.Cys622Tyr)	NR3C1 (C596Y +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1896581	NM_000176.3(NR3C1):c.530A>G (p.Asn177Ser)	NR3C1 (N80S +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1801909	NM_000176.3(NR3C1):c.2233A>G (p.Met745Val)	NR3C1 (M410V +8 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1702782	NM_000176.3(NR3C1):c.910G>C (p.Ala304Pro)	NR3C1 (A207P +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1656523	NM_000176.3(NR3C1):c.1469-11_1469-8del	NR3C1	Deletion (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1589102	NM_000176.3(NR3C1):c.2182-7C>T	NR3C1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1496931	NM_000176.3(NR3C1):c.734G>A (p.Cys245Tyr)	NR3C1 (C156Y +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1485485	NM_000176.3(NR3C1):c.307G>A (p.Gly103Arg)	NR3C1 (G103R +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1476724	NM_000176.3(NR3C1):c.1361A>G (p.Asn454Ser)	NR3C1 (N119S +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1451274	NM_000176.3(NR3C1):c.1435C>T (p.Arg479Ter)	NR3C1 (R149* +8 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1353940	NM_000176.3(NR3C1):c.1130C>T (p.Ser377Phe)	NR3C1 (S292F +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1339915	NM_000176.3(NR3C1):c.2136G>A (p.Trp712Ter)	NR3C1 (W377* +8 more)	Single nucleotide variant (nonsense +1 more)	Glucocorticoid resistance	Gnot provided
Select item 1333751	NM_000176.3(NR3C1):c.66_68delinsAAA (p.Arg23Lys)	NR3C1 (R23K)	Indel (missense variant +1 more)	Glucocorticoid resistance	GUncertain significance
Select item 1333750	NM_000176.3(NR3C1):c.2282T>C (p.Ile761Thr)	NR3C1 (I426T +8 more)	Single nucleotide variant (missense variant +2 more)	Glucocorticoid resistance	GUncertain significance
Select item 1326986	NM_000176.3(NR3C1):c.1469-16G>T	NR3C1	Single nucleotide variant (intron variant)	Glucocorticoid resistance +1 more	GBenign
Select item 1309584	NM_000176.3(NR3C1):c.1310C>T (p.Thr437Ile)	NR3C1 (T102I +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1144760	NM_000176.3(NR3C1):c.811G>A (p.Val271Ile)	NR3C1 (V174I +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1143297	NM_000176.3(NR3C1):c.1082C>T (p.Ser361Phe)	NR3C1 (S264F +7 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1029694	NM_000176.3(NR3C1):c.2309A>G (p.Lys770Arg)	NR3C1 (K440R +8 more)	Single nucleotide variant (missense variant +2 more)	Glucocorticoid resistance	GUncertain significance
Select item 907693	NM_001018077.1(NR3C1):c.-1008C>T	NR3C1	Single nucleotide variant	Glucocorticoid resistance	GLikely benign
Select item 907692	NM_001018077.1(NR3C1):c.-958G>T	NR3C1	Single nucleotide variant (5 prime UTR variant)	Glucocorticoid resistance	GLikely benign
Select item 907616	NM_000176.3(NR3C1):c.946A>T (p.Met316Leu)	NR3C1 (M219L +5 more)	Single nucleotide variant (missense variant +2 more)	Glucocorticoid resistance	GUncertain significance
Select item 907615	NM_000176.3(NR3C1):c.1018T>G (p.Ser340Ala)	NR3C1 (S340A +7 more)	Single nucleotide variant (missense variant)	Glucocorticoid resistance	GUncertain significance
Select item 907558	NM_000176.3(NR3C1):c.*954C>G	NR3C1	Single nucleotide variant (3 prime UTR variant +2 more)	Glucocorticoid resistance	GUncertain significance
Select item 907557	NM_000176.3(NR3C1):c.*988T>C	NR3C1	Single nucleotide variant (3 prime UTR variant +2 more)	Glucocorticoid resistance	GUncertain significance
Select item 907556	NM_000176.3(NR3C1):c.*1464A>G	NR3C1	Single nucleotide variant (3 prime UTR variant +2 more)	Glucocorticoid resistance	GUncertain significance
Select item 907555	NM_000176.3(NR3C1):c.*1466T>C	NR3C1	Single nucleotide variant (3 prime UTR variant +2 more)	Glucocorticoid resistance	GUncertain significance
Select item 907554	NM_000176.3(NR3C1):c.*1492A>G	NR3C1	Single nucleotide variant (3 prime UTR variant +2 more)	Glucocorticoid resistance	GUncertain significance
Select item 907489	NM_000176.3(NR3C1):c.*3259G>A	NR3C1	Single nucleotide variant (3 prime UTR variant +1 more)	Glucocorticoid resistance	GUncertain significance
Select item 907488	NM_000176.3(NR3C1):c.*3330G>T	NR3C1	Single nucleotide variant (3 prime UTR variant +1 more)	Glucocorticoid resistance	GUncertain significance
Select item 907487	NM_000176.3(NR3C1):c.*3378G>A	NR3C1	Single nucleotide variant (3 prime UTR variant +1 more)	Glucocorticoid resistance	GUncertain significance
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	NR3C1, LOC129994924	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 906658	NM_001018077.1(NR3C1):c.-717A>T	NR3C1	Single nucleotide variant (5 prime UTR variant +1 more)	Glucocorticoid resistance	GUncertain significance
Select item 906593	NM_000176.3(NR3C1):c.1039C>G (p.Gln347Glu)	NR3C1 (Q250E +7 more)	Single nucleotide variant (missense variant)	Glucocorticoid resistance	GUncertain significance
Select item 906592	NM_000176.3(NR3C1):c.1489A>G (p.Ile497Val)	NR3C1 (I182V +8 more)	Single nucleotide variant (missense variant +1 more)	Glucocorticoid resistance	GUncertain significance
Select item 906540	NM_000176.3(NR3C1):c.*1825G>C	NR3C1	Single nucleotide variant (3 prime UTR variant +2 more)	Glucocorticoid resistance	GUncertain significance
Select item 906539	NM_000176.3(NR3C1):c.*1880A>G	NR3C1	Single nucleotide variant (3 prime UTR variant +2 more)	Glucocorticoid resistance	GLikely benign
Select item 906538	NM_000176.3(NR3C1):c.*1941A>C	NR3C1	Single nucleotide variant (3 prime UTR variant +2 more)	Glucocorticoid resistance	GUncertain significance
Select item 906537	NM_000176.3(NR3C1):c.*1957A>G	NR3C1	Single nucleotide variant (3 prime UTR variant +2 more)	Glucocorticoid resistance	GUncertain significance
Select item 906491	NM_000176.3(NR3C1):c.*3383T>G	NR3C1	Single nucleotide variant (3 prime UTR variant +1 more)	Glucocorticoid resistance +1 more	GUncertain significance
Select item 906490	NM_000176.3(NR3C1):c.*3406C>G	NR3C1	Single nucleotide variant (3 prime UTR variant +1 more)	Glucocorticoid resistance	GUncertain significance
Select item 906489	NM_000176.3(NR3C1):c.*3580T>C	NR3C1	Single nucleotide variant (3 prime UTR variant +1 more)	Glucocorticoid resistance	GUncertain significance
Select item 906488	NM_000176.3(NR3C1):c.*3685C>G	NR3C1	Single nucleotide variant (3 prime UTR variant +1 more)	Glucocorticoid resistance	GUncertain significance
Select item 905080	NM_001018077.1(NR3C1):c.-620G>A	NR3C1	Single nucleotide variant (5 prime UTR variant +1 more)	Glucocorticoid resistance	GLikely benign
Select item 905079	NM_001018077.1(NR3C1):c.-616T>G	NR3C1	Single nucleotide variant (5 prime UTR variant +1 more)	Glucocorticoid resistance	GLikely benign
Select item 905078	NM_001018077.1(NR3C1):c.-553G>A	NR3C1	Single nucleotide variant (5 prime UTR variant +1 more)	Glucocorticoid resistance	GUncertain significance

<< First< Prev

Page of 3