ClinVar for Gene (Select 4306) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3350126	NM_000901.5(NR3C2):c.1758-1G>A	NR3C2	Single nucleotide variant (splice acceptor variant)	NR3C2-related disorder	GLikely pathogenic
Select item 3342534	NM_000901.5(NR3C2):c.2425C>G (p.Leu809Val)	NR3C2 (L692V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3300963	NM_000901.5(NR3C2):c.1302T>G (p.His434Gln)	NR3C2 (H434Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3300962	NM_000901.5(NR3C2):c.1223G>A (p.Ser408Asn)	NR3C2 (S408N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3300961	NM_000901.5(NR3C2):c.1970C>T (p.Ala657Val)	NR3C2 (A657V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3300960	NM_000901.5(NR3C2):c.1031C>G (p.Thr344Ser)	NR3C2 (T344S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3300959	NM_000901.5(NR3C2):c.1362T>G (p.Asp454Glu)	NR3C2 (D454E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3300958	NM_000901.5(NR3C2):c.1654C>T (p.Pro552Ser)	NR3C2 (P552S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3257509	NM_000901.5(NR3C2):c.711C>T (p.Cys237=)	NR3C2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3201958	NM_000901.5(NR3C2):c.83G>A (p.Arg28His)	NR3C2 (R28H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3201957	NM_000901.5(NR3C2):c.199A>G (p.Lys67Glu)	NR3C2 (K67E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3201956	NM_000901.5(NR3C2):c.1777T>A (p.Ser593Thr)	NR3C2 (S593T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3201955	NM_000901.5(NR3C2):c.1751T>G (p.Val584Gly)	NR3C2 (V584G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3201954	NM_000901.5(NR3C2):c.1390A>G (p.Lys464Glu)	NR3C2 (K464E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3201953	NM_000901.5(NR3C2):c.1363G>A (p.Gly455Ser)	NR3C2 (G455S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3201952	NM_000901.5(NR3C2):c.128T>C (p.Met43Thr)	NR3C2 (M43T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3201951	NM_000901.5(NR3C2):c.1225T>C (p.Ser409Pro)	NR3C2 (S409P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3201950	NM_000901.5(NR3C2):c.1004G>A (p.Ser335Asn)	NR3C2 (S335N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3068908	NC_000004.11:g.(149041440_149073619)_(149116014_149181129)del	NR3C2	Deletion	NR3C2-related disorder	GPathogenic
Select item 3063829	NM_000901.5(NR3C2):c.2153C>T (p.Ser718Leu)	NR3C2 (S718L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062804	GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)x3	FAT1, FAT4 +197 more	Copy number gain	not specified	GPathogenic
Select item 3062798	GRCh37/hg19 4q31.22-31.23(chr4:148012359-149767130)x3	ARHGAP10, EDNRA +3 more	Copy number gain	not specified	GUncertain significance
Select item 3062767	GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	AADAT, ABCE1 +286 more	Copy number gain	not specified	GPathogenic
Select item 3058120	NM_000901.5(NR3C2):c.-1G>T	NR3C2	Single nucleotide variant (5 prime UTR variant +1 more)	NR3C2-related disorder	GLikely benign
Select item 3054968	NM_000901.5(NR3C2):c.1953A>G (p.Arg651=)	NR3C2	Single nucleotide variant (synonymous variant +1 more)	NR3C2-related disorder	GLikely benign
Select item 3047094	NM_000901.5(NR3C2):c.714C>T (p.Ser238=)	NR3C2	Single nucleotide variant (synonymous variant +1 more)	NR3C2-related disorder	GLikely benign
Select item 3042426	NM_000901.5(NR3C2):c.2799+1G>A	NR3C2	Single nucleotide variant (splice donor variant)	Inborn genetic diseases	GLikely pathogenic
Select item 3032488	NM_000901.5(NR3C2):c.2466G>A (p.Thr822=)	NR3C2	Single nucleotide variant (synonymous variant)	NR3C2-related disorder	GLikely benign
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	HPGDS, SCRG1 +537 more	Copy number gain	not provided	GPathogenic
Select item 3023714	NM_000901.5(NR3C2):c.2800-25_2800-14dup	NR3C2	Duplication (intron variant)	not provided	GLikely benign
Select item 3021813	NM_000901.5(NR3C2):c.2309A>G (p.Asn770Ser)	NR3C2 (N770S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2998833	NM_000901.5(NR3C2):c.758A>G (p.His253Arg)	NR3C2 (H253R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2997355	NM_000901.5(NR3C2):c.2889C>T (p.Ile963=)	NR3C2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2996621	NM_000901.5(NR3C2):c.448C>T (p.Arg150Cys)	NR3C2 (R150C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2991642	NM_000901.5(NR3C2):c.1434C>T (p.Pro478=)	NR3C2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2984693	NM_000901.5(NR3C2):c.1546G>A (p.Val516Met)	NR3C2 (V516M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2979020	NM_000901.5(NR3C2):c.2092C>T (p.Pro698Ser)	NR3C2 (P698S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2970306	NM_000901.5(NR3C2):c.345T>C (p.Ala115=)	NR3C2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2965688	NM_000901.5(NR3C2):c.2151C>T (p.Pro717=)	NR3C2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2965554	NM_000901.5(NR3C2):c.1407A>G (p.Leu469=)	NR3C2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2963787	NM_000901.5(NR3C2):c.458C>T (p.Thr153Ile)	NR3C2 (T153I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2908758	NM_000901.5(NR3C2):c.1368G>A (p.Ser456=)	NR3C2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2907491	NM_000901.5(NR3C2):c.112G>A (p.Asp38Asn)	NR3C2 (D38N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2903639	NM_000901.5(NR3C2):c.2933C>T (p.Pro978Leu)	NR3C2 (P978L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2898179	NM_000901.5(NR3C2):c.549C>T (p.Ser183=)	NR3C2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2893242	NM_000901.5(NR3C2):c.2577C>T (p.Phe859=)	NR3C2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2879338	NM_000901.5(NR3C2):c.553A>G (p.Ile185Val)	NR3C2 (I185V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2873546	NM_000901.5(NR3C2):c.898C>G (p.Pro300Ala)	NR3C2 (P300A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2870263	NM_000901.5(NR3C2):c.1748A>G (p.Asn583Ser)	NR3C2 (N583S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2852784	NM_000901.5(NR3C2):c.2860G>A (p.Val954Ile)	NR3C2 (V837I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2852683	NM_000901.5(NR3C2):c.1695C>T (p.Asp565=)	NR3C2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2816827	NM_000901.5(NR3C2):c.335T>C (p.Val112Ala)	NR3C2 (V112A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2789164	NM_000901.5(NR3C2):c.1245C>G (p.Ser415Arg)	NR3C2 (S415R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2778562	NM_000901.5(NR3C2):c.2641+13C>T	NR3C2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2759171	NM_000901.5(NR3C2):c.1862G>A (p.Gly621Asp)	NR3C2 (G621D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2722423	NM_000901.5(NR3C2):c.963G>A (p.Thr321=)	NR3C2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2695541	NM_000901.5(NR3C2):c.665G>T (p.Ser222Ile)	NR3C2 (S222I)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2692666	NM_000901.5(NR3C2):c.1225T>G (p.Ser409Ala)	NR3C2 (S409A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2686051	NM_000901.5(NR3C2):c.2438C>T (p.Ala813Val)	NR3C2 (A696V +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant pseudohypoaldosteronism type 1	GUncertain significance
Select item 2685986	GRCh37/hg19 4q26-32.3(chr4:117518683-168174703)x3	SPOCK3, SPRY1 +153 more	Copy number gain	not provided	GPathogenic
Select item 2663555	NM_000901.5(NR3C2):c.928_939del (p.Val310_Pro313del)	NR3C2	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2655119	NM_000901.5(NR3C2):c.1773T>C (p.Ser591=)	NR3C2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2655118	NM_000901.5(NR3C2):c.2304G>A (p.Thr768=)	NR3C2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2633752	NM_000901.5(NR3C2):c.68C>T (p.Ser23Phe)	NR3C2 (S23F)	Single nucleotide variant (missense variant +1 more)	NR3C2-related disorder	GUncertain significance
Select item 2633109	NM_000901.5(NR3C2):c.410T>C (p.Val137Ala)	NR3C2 (V137A)	Single nucleotide variant (missense variant +1 more)	NR3C2-related disorder	GUncertain significance
Select item 2632160	NM_000901.5(NR3C2):c.532C>A (p.Arg178Ser)	NR3C2 (R178S)	Single nucleotide variant (missense variant +1 more)	NR3C2-related disorder	GUncertain significance
Select item 2621604	NM_000901.5(NR3C2):c.1498G>A (p.Gly500Arg)	NR3C2 (G500R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2588150	NM_000901.5(NR3C2):c.1066C>T (p.Arg356Trp)	NR3C2 (R356W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2578204	NM_000901.5(NR3C2):c.556_557del (p.Met186fs)	NR3C2 (M186fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2573008	NM_000901.5(NR3C2):c.1350del (p.Pro451fs)	NR3C2 (P451fs)	Deletion (frameshift variant +1 more)	Autosomal dominant pseudohypoaldosteronism type 1	GLikely pathogenic
Select item 2550940	NM_000901.5(NR3C2):c.1664C>T (p.Thr555Ile)	NR3C2 (T555I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2492510	NM_000901.5(NR3C2):c.2331G>T (p.Met777Ile)	NR3C2 (M777I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2482567	NM_000901.5(NR3C2):c.1689C>A (p.His563Gln)	NR3C2 (H563Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2481659	NM_000901.5(NR3C2):c.142G>T (p.Val48Leu)	NR3C2 (V48L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2443197	NM_000901.5(NR3C2):c.1758-3C>T	NR3C2	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2407813	NM_000901.5(NR3C2):c.718A>G (p.Asn240Asp)	NR3C2 (N240D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2340815	NM_000901.5(NR3C2):c.1756A>G (p.Ser586Gly)	NR3C2 (S586G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2336586	NM_000901.5(NR3C2):c.1693G>A (p.Asp565Asn)	NR3C2 (D565N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2329781	NM_000901.5(NR3C2):c.2474A>G (p.Gln825Arg)	NR3C2 (Q825R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2323038	NM_000901.5(NR3C2):c.2932C>A (p.Pro978Thr)	NR3C2 (P978T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2260197	NM_000901.5(NR3C2):c.2125A>G (p.Thr709Ala)	NR3C2 (T709A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2255091	NM_000901.5(NR3C2):c.1710A>T (p.Arg570Ser)	NR3C2 (R570S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2224068	NM_000901.5(NR3C2):c.1613C>T (p.Ser538Leu)	NR3C2 (S538L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2222827	NM_000901.5(NR3C2):c.1462G>A (p.Gly488Arg)	NR3C2 (G488R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2161547	NM_000901.5(NR3C2):c.555C>T (p.Ile185=)	NR3C2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2146476	NM_000901.5(NR3C2):c.1256C>T (p.Ser419Leu)	NR3C2 (S419L)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2125082	NM_000901.5(NR3C2):c.1750G>A (p.Val584Ile)	NR3C2 (V584I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2124981	NM_000901.5(NR3C2):c.33A>G (p.Glu11=)	NR3C2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2117049	NM_000901.5(NR3C2):c.455C>T (p.Ser152Phe)	NR3C2 (S152F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2092306	NM_000901.5(NR3C2):c.2642-1G>C	NR3C2	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2090448	NM_000901.5(NR3C2):c.596A>G (p.Asn199Ser)	NR3C2 (N199S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2086384	NM_000901.5(NR3C2):c.2842G>A (p.Glu948Lys)	NR3C2 (E948K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2075689	NM_000901.5(NR3C2):c.1437C>T (p.Gly479=)	NR3C2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2069962	NM_000901.5(NR3C2):c.1758-6C>T	NR3C2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2054573	NM_000901.5(NR3C2):c.1067G>A (p.Arg356Gln)	NR3C2 (R356Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1964747	NM_000901.5(NR3C2):c.2198C>T (p.Ala733Val)	NR3C2 (A733V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1923297	NM_000901.5(NR3C2):c.1150A>C (p.Ile384Leu)	NR3C2 (I384L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1910070	NM_000901.5(NR3C2):c.2799+20G>T	NR3C2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1905636	NM_000901.5(NR3C2):c.1615G>T (p.Ala539Ser)	NR3C2 (A539S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1809946	NM_000901.5(NR3C2):c.2331G>A (p.Met777Ile)	NR3C2 (M777I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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