NR3C1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129995052, LOC129995053 +1157 more	Copy number gain	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic
Select item 58388	GRCh38/hg38 5q31.2-32(chr5:138871137-145812309)x1	ANKHD1, ANKHD1-DT +377 more	Copy number loss	See cases	GPathogenic
Select item 150685	GRCh38/hg38 5q31.3-32(chr5:141089988-149530678)x3	LOC129994934, LOC129994935 +313 more	Copy number gain	See cases	GPathogenic
Select item 155674	GRCh38/hg38 5q31.3(chr5:143058895-143577350)x1	ARHGAP26, ARHGAP26-IT1 +27 more	Copy number loss	See cases	GUncertain significance
Select item 351313	NM_000176.3(NR3C1):c.*3937A>T	NR3C1	Single nucleotide variant (3 prime UTR variant +1 more)	Glucocorticoid resistance	GUncertain significance
Select item 904884	NM_000176.3(NR3C1):c.*3877C>T	NR3C1	Single nucleotide variant (3 prime UTR variant +1 more)	Glucocorticoid resistance	GUncertain significance
Select item 904885	NM_000176.3(NR3C1):c.*3868C>T	NR3C1	Single nucleotide variant (3 prime UTR variant +1 more)	Glucocorticoid resistance	GUncertain significance
Select item 904886	NM_000176.3(NR3C1):c.*3846G>A	NR3C1	Single nucleotide variant (3 prime UTR variant +1 more)	Glucocorticoid resistance	GUncertain significance
Select item 351314	NM_000176.3(NR3C1):c.*3833A>G	NR3C1	Single nucleotide variant (3 prime UTR variant +1 more)	Glucocorticoid resistance	GBenign
Select item 351315	NM_000176.3(NR3C1):c.*3759dup	NR3C1	Duplication (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 906489	NM_000176.3(NR3C1):c.*3580T>C	NR3C1	Single nucleotide variant (3 prime UTR variant +1 more)	Glucocorticoid resistance	GUncertain significance
Select item 351316	NM_000176.3(NR3C1):c.*3550G>A	NR3C1	Single nucleotide variant (3 prime UTR variant +1 more)	Glucocorticoid resistance	GLikely benign
Select item 351317	NM_000176.3(NR3C1):c.*3466T>C	NR3C1	Single nucleotide variant (3 prime UTR variant +1 more)	Glucocorticoid resistance	GUncertain significance
Select item 351318	NM_000176.3(NR3C1):c.*3431G>C	NR3C1	Single nucleotide variant (3 prime UTR variant +1 more)	Glucocorticoid resistance	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 906491	NM_000176.3(NR3C1):c.*3383T>G	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 907488	NM_000176.3(NR3C1):c.*3330G>T	NR3C1	Single nucleotide variant (3 prime UTR variant +1 more)	Glucocorticoid resistance	GUncertain significance
Select item 351319	NM_000176.3(NR3C1):c.*3319G>C	NR3C1	Single nucleotide variant (3 prime UTR variant +1 more)	Glucocorticoid resistance	GUncertain significance
Select item 351320	NM_000176.3(NR3C1):c.*3300G>T	NR3C1	Single nucleotide variant (3 prime UTR variant +1 more)	Glucocorticoid resistance	GUncertain significance
Select item 351321	NM_000176.3(NR3C1):c.*3298G>T	NR3C1	Single nucleotide variant (3 prime UTR variant +1 more)	Glucocorticoid resistance	GBenign
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 351322	NM_000176.3(NR3C1):c.*3153C>T	NR3C1	Single nucleotide variant (3 prime UTR variant +1 more)	Glucocorticoid resistance	GLikely benign
Select item 351323	NM_000176.3(NR3C1):c.*3077G>A	NR3C1	Single nucleotide variant (3 prime UTR variant +1 more)	Glucocorticoid resistance	GUncertain significance
Select item 351324	NM_000176.3(NR3C1):c.*3076C>T	NR3C1	Single nucleotide variant (3 prime UTR variant +1 more)	Glucocorticoid resistance	GLikely benign
Select item 351325	NM_000176.3(NR3C1):c.*3046G>C	NR3C1	Single nucleotide variant (3 prime UTR variant +1 more)	Glucocorticoid resistance	GUncertain significance
Select item 351326	NM_000176.3(NR3C1):c.*3003A>G	NR3C1	Single nucleotide variant (3 prime UTR variant +1 more)	Glucocorticoid resistance	GUncertain significance
Select item 904168	NM_000176.3(NR3C1):c.*2956G>A	NR3C1	Single nucleotide variant (3 prime UTR variant +1 more)	Glucocorticoid resistance	GUncertain significance
Select item 904169	NM_000176.3(NR3C1):c.*2947T>G	NR3C1	Single nucleotide variant (3 prime UTR variant +1 more)	Glucocorticoid resistance	GUncertain significance
Select item 904170	NM_000176.3(NR3C1):c.*2928A>G	NR3C1	Single nucleotide variant (3 prime UTR variant +1 more)	Glucocorticoid resistance	GUncertain significance
Select item 904171	NM_000176.3(NR3C1):c.*2875T>C	NR3C1	Single nucleotide variant (3 prime UTR variant +1 more)	Glucocorticoid resistance	GUncertain significance
Select item 351327	NM_000176.3(NR3C1):c.*2873G>A	NR3C1	Single nucleotide variant (3 prime UTR variant +1 more)	Glucocorticoid resistance	GUncertain significance
Select item 904944	NM_000176.3(NR3C1):c.*2621T>G	NR3C1	Single nucleotide variant (3 prime UTR variant +1 more)	Glucocorticoid resistance	GUncertain significance
Select item 351328	NM_000176.3(NR3C1):c.*2601A>T	NR3C1	Single nucleotide variant (3 prime UTR variant +1 more)	Glucocorticoid resistance	GUncertain significance
Select item 351329	NM_000176.3(NR3C1):c.*2567A>G	NR3C1	Single nucleotide variant (3 prime UTR variant +1 more)	Glucocorticoid resistance	GUncertain significance
Select item 351330	NM_000176.3(NR3C1):c.*2521T>A	NR3C1 (I742N)	Single nucleotide variant (3 prime UTR variant +2 more)	Glucocorticoid resistance	GUncertain significance
Select item 904945	NM_000176.3(NR3C1):c.*2370G>A	NR3C1	Single nucleotide variant (3 prime UTR variant +2 more)	Glucocorticoid resistance	GUncertain significance
Select item 904946	NM_000176.3(NR3C1):c.*2367C>T	NR3C1	Single nucleotide variant (3 prime UTR variant +2 more)	Glucocorticoid resistance	GUncertain significance
Select item 351331	NM_000176.3(NR3C1):c.*2188A>G	NR3C1	Single nucleotide variant (3 prime UTR variant +2 more)	Glucocorticoid resistance	GBenign
Select item 351332	NM_000176.3(NR3C1):c.*2151A>C	NR3C1	Single nucleotide variant (3 prime UTR variant +2 more)	Glucocorticoid resistance	GUncertain significance
Select item 351333	NM_000176.3(NR3C1):c.*2056dup	NR3C1	Duplication (3 prime UTR variant +2 more)	Glucocorticoid resistance	GUncertain significance
Select item 351334	NM_000176.3(NR3C1):c.*2042C>T	NR3C1	Single nucleotide variant (3 prime UTR variant +2 more)	Glucocorticoid resistance	GLikely benign
Select item 351335	NM_000176.3(NR3C1):c.*2031C>T	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 906538	NM_000176.3(NR3C1):c.*1941A>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 906540	NM_000176.3(NR3C1):c.*1825G>C	NR3C1	Single nucleotide variant (3 prime UTR variant +2 more)	Glucocorticoid resistance	GUncertain significance
Select item 351336	NM_000176.3(NR3C1):c.*1628A>G	NR3C1	Single nucleotide variant (3 prime UTR variant +2 more)	Glucocorticoid resistance	GUncertain significance
Select item 351337	NM_000176.3(NR3C1):c.*1589A>G	NR3C1	Single nucleotide variant (3 prime UTR variant +2 more)	Glucocorticoid resistance	GUncertain significance
Select item 351338	NM_000176.3(NR3C1):c.*1509C>A	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 907555	NM_000176.3(NR3C1):c.*1466T>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 351339	NM_000176.3(NR3C1):c.*1407A>G	NR3C1	Single nucleotide variant (3 prime UTR variant +2 more)	Glucocorticoid resistance	GUncertain significance
Select item 351340	NM_000176.3(NR3C1):c.1245_1248dup	NR3C1	Duplication (3 prime UTR variant +2 more)	Glucocorticoid resistance	GUncertain significance
Select item 351341	NM_000176.3(NR3C1):c.*1241C>T	NR3C1	Single nucleotide variant (3 prime UTR variant +2 more)	Glucocorticoid resistance	GUncertain significance
Select item 351342	NM_000176.3(NR3C1):c.1220_1225dup	NR3C1	Duplication (3 prime UTR variant +2 more)	Glucocorticoid resistance	GLikely benign
Select item 351343	NM_000176.3(NR3C1):c.*1176C>T	NR3C1	Single nucleotide variant (3 prime UTR variant +2 more)	Glucocorticoid resistance	GUncertain significance
Select item 351344	NM_000176.3(NR3C1):c.1087_1088dup	NR3C1	Duplication (3 prime UTR variant +2 more)	Glucocorticoid resistance	GUncertain significance
Select item 351345	NM_000176.3(NR3C1):c.*1055T>A	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 907558	NM_000176.3(NR3C1):c.*954C>G	NR3C1	Single nucleotide variant (3 prime UTR variant +2 more)	Glucocorticoid resistance	GUncertain significance
Select item 351346	NM_000176.3(NR3C1):c.*946T>G	NR3C1	Single nucleotide variant (3 prime UTR variant +2 more)	Glucocorticoid resistance	GUncertain significance
Select item 351347	NM_000176.3(NR3C1):c.*937C>A	NR3C1	Single nucleotide variant (3 prime UTR variant +2 more)	Glucocorticoid resistance	GUncertain significance
Select item 904220	NM_000176.3(NR3C1):c.*905A>T	NR3C1	Single nucleotide variant (3 prime UTR variant +2 more)	Glucocorticoid resistance	GUncertain significance
Select item 351348	NM_000176.3(NR3C1):c.861_868del	NR3C1	Deletion (3 prime UTR variant +2 more)	Glucocorticoid resistance	GUncertain significance
Select item 351349	NM_000176.3(NR3C1):c.834_837dup	NR3C1	Duplication (3 prime UTR variant +2 more)	Glucocorticoid resistance	GUncertain significance
Select item 904221	NM_000176.3(NR3C1):c.*808T>C	NR3C1	Single nucleotide variant (3 prime UTR variant +2 more)	Glucocorticoid resistance	GUncertain significance
Select item 351352	NM_000176.3(NR3C1):c.766_769dup	NR3C1	Duplication (3 prime UTR variant +2 more)	Glucocorticoid resistance	GUncertain significance
Select item 351351	NM_000176.3(NR3C1):c.768_769dup	NR3C1	Duplication (3 prime UTR variant +2 more)	Glucocorticoid resistance	GUncertain significance
Select item 351350	NM_000176.3(NR3C1):c.*769dup	NR3C1	Duplication (3 prime UTR variant +2 more)	Glucocorticoid resistance	GUncertain significance
Select item 351353	NM_000176.3(NR3C1):c.*752A>G	NR3C1	Single nucleotide variant (3 prime UTR variant +2 more)	Glucocorticoid resistance	GUncertain significance
Select item 351354	NM_000176.3(NR3C1):c.*750del	NR3C1	Deletion (3 prime UTR variant +2 more)	Glucocorticoid resistance	GUncertain significance
Select item 351355	NM_000176.3(NR3C1):c.*618A>G	NR3C1	Single nucleotide variant (3 prime UTR variant +2 more)	Glucocorticoid resistance	GUncertain significance
Select item 904222	NM_000176.3(NR3C1):c.*534T>C	NR3C1	Single nucleotide variant (3 prime UTR variant +2 more)	Glucocorticoid resistance	GUncertain significance
Select item 351356	NM_000176.3(NR3C1):c.*409dup	NR3C1	Duplication (3 prime UTR variant +2 more)	Glucocorticoid resistance	GUncertain significance
Select item 351357	NM_000176.3(NR3C1):c.*409del	NR3C1	Deletion (3 prime UTR variant +2 more)	Glucocorticoid resistance	GUncertain significance
Select item 351358	NM_000176.3(NR3C1):c.*401dup	NR3C1	Duplication (3 prime UTR variant +2 more)	Glucocorticoid resistance	GUncertain significance
Select item 904223	NM_000176.3(NR3C1):c.*293A>C	NR3C1	Single nucleotide variant (3 prime UTR variant +2 more)	Glucocorticoid resistance	GUncertain significance
Select item 351359	NM_000176.3(NR3C1):c.*290A>C	NR3C1	Single nucleotide variant (3 prime UTR variant +2 more)	Glucocorticoid resistance	GLikely benign
Select item 905011	NM_000176.3(NR3C1):c.*256A>G	NR3C1	Single nucleotide variant (3 prime UTR variant +2 more)	Glucocorticoid resistance	GUncertain significance
Select item 351360	NM_000176.3(NR3C1):c.*149T>C	NR3C1	Single nucleotide variant (3 prime UTR variant +2 more)	Glucocorticoid resistance	GUncertain significance
Select item 905012	NM_000176.3(NR3C1):c.*134G>A	NR3C1	Single nucleotide variant (3 prime UTR variant +2 more)	Glucocorticoid resistance	GUncertain significance
Select item 351361	NM_000176.3(NR3C1):c.*101dup	NR3C1	Duplication (3 prime UTR variant +2 more)	Glucocorticoid resistance	GUncertain significance
Select item 351362	NM_000176.3(NR3C1):c.*36G>A	NR3C1	Single nucleotide variant (3 prime UTR variant +2 more)	Glucocorticoid resistance	GUncertain significance
Select item 16155	NM_000176.3(NR3C1):c.2318T>C (p.Leu773Pro)	NR3C1 (L773P +8 more)	Single nucleotide variant (missense variant +2 more)	Glucocorticoid resistance	GPathogenic
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 351363	NM_000176.3(NR3C1):c.2307C>G (p.Ile769Met)	NR3C1 (I769M +8 more)	Single nucleotide variant (missense variant +2 more)	Glucocorticoid resistance	GUncertain significance
Select item 351364	NM_000176.3(NR3C1):c.2298T>C (p.Asn766=)	NR3C1	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GBenign
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 16149	NM_000176.3(NR3C1):c.2259A>T (p.Leu753Phe)	NR3C1 (L753F +8 more)	Single nucleotide variant (missense variant +2 more)	Glucocorticoid resistance, cellular	GPathogenic
Select item 351365	NM_000176.3(NR3C1):c.2250C>T (p.Pro750=)	NR3C1	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GBenign/Likely benign
Select item 16152	NM_000176.3(NR3C1):c.2241T>G (p.Ile747Met)	NR3C1 (I747M +8 more)	Single nucleotide variant (missense variant +2 more)	Glucocorticoid resistance	GPathogenic
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 16158	NM_000176.3(NR3C1):c.2209T>C (p.Phe737Leu)	NR3C1 (F737L +8 more)	Single nucleotide variant (missense variant +2 more)	Glucocorticoid resistance	GPathogenic
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 1589102	NM_000176.3(NR3C1):c.2182-7C>T	NR3C1	Single nucleotide variant (intron variant)	not provided	GLikely benign

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