ClinVar for Gene (Select 3291) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3367772	NM_000196.4(HSD11B2):c.683G>A (p.Cys228Tyr)	HSD11B2 (C228Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3338049	NM_000196.4(HSD11B2):c.577T>G (p.Phe193Val)	HSD11B2 (F193V)	Single nucleotide variant (missense variant)	Apparent mineralocorticoid excess	GUncertain significance
Select item 3284843	NM_000196.4(HSD11B2):c.311C>G (p.Ser104Cys)	HSD11B2 (S104C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3284842	NM_000196.4(HSD11B2):c.716T>C (p.Val239Ala)	HSD11B2 (V239A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3255478	NC_000016.9:g.(?_48799549)_(70756330_?)dup	PRMT7, PRSS54 +195 more	Duplication	Chromosome 16q12 duplication syndrome	GLikely pathogenic
Select item 3233589	NM_000196.4(HSD11B2):c.1192G>A (p.Gly398Ser)	HSD11B2 (G398S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107082	NM_000196.4(HSD11B2):c.236C>G (p.Pro79Arg)	HSD11B2 (P79R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3107081	NM_000196.4(HSD11B2):c.164C>T (p.Pro55Leu)	HSD11B2 (P55L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3063827	NM_000196.4(HSD11B2):c.1082G>A (p.Arg361His)	HSD11B2 (R361H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3057334	NM_000196.4(HSD11B2):c.664+15C>A	HSD11B2	Single nucleotide variant (intron variant)	HSD11B2-related disorder	GLikely benign
Select item 3004042	NM_000196.4(HSD11B2):c.903G>A (p.Glu301=)	HSD11B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3002002	NM_000196.4(HSD11B2):c.210C>T (p.Ser70=)	HSD11B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2980662	NM_000196.4(HSD11B2):c.42C>T (p.Leu14=)	HSD11B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2976748	NM_000196.4(HSD11B2):c.948C>T (p.Ser316=)	HSD11B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2967700	NM_000196.4(HSD11B2):c.42C>G (p.Leu14=)	HSD11B2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2957987	NM_000196.4(HSD11B2):c.664+16C>G	HSD11B2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2957351	NM_000196.4(HSD11B2):c.664+13C>G	HSD11B2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2956670	NM_000196.4(HSD11B2):c.997C>T (p.Arg333Trp)	HSD11B2 (R333W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2916720	NM_000196.4(HSD11B2):c.492C>T (p.Leu164=)	HSD11B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2885399	NM_000196.4(HSD11B2):c.318C>T (p.Gly106=)	HSD11B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2876313	NM_000196.4(HSD11B2):c.168_195del (p.Ala57fs)	HSD11B2 (A57fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2870444	NM_000196.4(HSD11B2):c.183G>A (p.Leu61=)	HSD11B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2869906	NM_000196.4(HSD11B2):c.837C>T (p.Arg279=)	HSD11B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2801573	NM_000196.4(HSD11B2):c.1045T>C (p.Phe349Leu)	HSD11B2 (F349L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2798301	NM_000196.4(HSD11B2):c.1021G>A (p.Gly341Ser)	HSD11B2 (G341S)	Single nucleotide variant (missense variant)	Apparent mineralocorticoid excess +1 more	GUncertain significance
Select item 2789381	NM_000196.4(HSD11B2):c.735dup (p.Phe246fs)	HSD11B2 (F246fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2771416	NM_000196.4(HSD11B2):c.555C>G (p.Phe185Leu)	HSD11B2 (F185L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2671761	NM_000196.4(HSD11B2):c.745G>A (p.Glu249Lys)	HSD11B2 (E249K)	Single nucleotide variant (missense variant)	Apparent mineralocorticoid excess	GUncertain significance
Select item 2609665	NM_000196.4(HSD11B2):c.476C>A (p.Thr159Asn)	HSD11B2 (T159N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2544038	NM_000196.4(HSD11B2):c.953T>C (p.Leu318Pro)	HSD11B2 (L318P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2498668	NM_000196.4(HSD11B2):c.99G>A (p.Pro33=)	HSD11B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2483713	NM_000196.4(HSD11B2):c.236C>T (p.Pro79Leu)	HSD11B2 (P79L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2475572	NM_000196.4(HSD11B2):c.707A>T (p.Lys236Ile)	HSD11B2 (K236I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2474993	NM_000196.4(HSD11B2):c.172C>T (p.Leu58Phe)	HSD11B2 (L58F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2461500	NM_000196.4(HSD11B2):c.1081C>T (p.Arg361Cys)	HSD11B2 (R361C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2432536	NM_000196.4(HSD11B2):c.536T>C (p.Leu179Pro)	HSD11B2 (L179P)	Single nucleotide variant (missense variant)	Apparent mineralocorticoid excess	GUncertain significance
Select item 2432535	NM_000196.4(HSD11B2):c.586G>A (p.Ala196Thr)	HSD11B2 (A196T)	Single nucleotide variant (missense variant)	Apparent mineralocorticoid excess	GUncertain significance
Select item 2432534	NM_000196.4(HSD11B2):c.512A>G (p.Asn171Ser)	HSD11B2 (N171S)	Single nucleotide variant (missense variant)	Apparent mineralocorticoid excess	GUncertain significance
Select item 2423664	NC_000016.9:g.(?_65821800)_(72146396_?)del	CYB5B, DDX19A +127 more	Deletion	Dyskeratosis congenita, autosomal dominant 6	GUncertain significance
Select item 2406202	NM_000196.4(HSD11B2):c.1057T>C (p.Tyr353His)	HSD11B2 (Y353H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2386344	NM_000196.4(HSD11B2):c.715G>A (p.Val239Met)	HSD11B2 (V239M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2366657	NM_000196.4(HSD11B2):c.947C>T (p.Ser316Phe)	HSD11B2 (S316F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2323431	NM_000196.4(HSD11B2):c.989T>G (p.Leu330Arg)	HSD11B2 (L330R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2311051	NM_000196.4(HSD11B2):c.73C>A (p.Arg25Ser)	HSD11B2 (R25S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2277810	NM_000196.4(HSD11B2):c.925C>T (p.His309Tyr)	HSD11B2 (H309Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2192958	NM_000196.4(HSD11B2):c.336C>T (p.Thr112=)	HSD11B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2186323	NM_000196.4(HSD11B2):c.945G>A (p.Met315Ile)	HSD11B2 (M315I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2183074	NM_000196.4(HSD11B2):c.478G>A (p.Gly160Ser)	HSD11B2 (G160S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2149576	NM_000196.4(HSD11B2):c.462C>G (p.Ala154=)	HSD11B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2137838	NM_000196.4(HSD11B2):c.556C>T (p.Arg186Cys)	HSD11B2 (R186C)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2122078	NM_000196.4(HSD11B2):c.728T>C (p.Met243Thr)	HSD11B2 (M243T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2107440	NM_000196.4(HSD11B2):c.358G>A (p.Gly120Ser)	HSD11B2 (G120S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2081334	NM_000196.4(HSD11B2):c.865C>A (p.Gln289Lys)	HSD11B2 (Q289K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2079330	NM_000196.4(HSD11B2):c.441C>T (p.Arg147=)	HSD11B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2072930	NM_000196.4(HSD11B2):c.720G>A (p.Ala240=)	HSD11B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2047042	NM_000196.4(HSD11B2):c.802+5G>C	HSD11B2	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 2041404	NM_000196.4(HSD11B2):c.460G>A (p.Ala154Thr)	HSD11B2 (A154T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2040857	NM_000196.4(HSD11B2):c.587C>G (p.Ala196Gly)	HSD11B2 (A196G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2035909	NM_000196.4(HSD11B2):c.1184T>C (p.Leu395Pro)	HSD11B2 (L395P)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2033856	NM_000196.4(HSD11B2):c.83_177del (p.Leu28fs)	HSD11B2 (L28fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2008819	NM_000196.4(HSD11B2):c.193_194insCAG (p.Ala64_Gly65insAla)	HSD11B2	Insertion (inframe_insertion)	not provided	GUncertain significance
Select item 1994597	NM_000196.4(HSD11B2):c.706A>C (p.Lys236Gln)	HSD11B2 (K236Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1989648	NM_000196.4(HSD11B2):c.124G>A (p.Ala42Thr)	HSD11B2 (A42T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1978718	NM_000196.4(HSD11B2):c.24G>A (p.Ser8=)	HSD11B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1950949	NM_000196.4(HSD11B2):c.934C>T (p.Arg312Cys)	HSD11B2 (R312C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1939300	NM_000196.4(HSD11B2):c.643G>A (p.Val215Met)	HSD11B2 (V215M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1938819	NM_000196.4(HSD11B2):c.531G>A (p.Ala177=)	HSD11B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1923991	NM_000196.4(HSD11B2):c.559A>G (p.Ser187Gly)	HSD11B2 (S187G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1912113	NM_000196.4(HSD11B2):c.802+14C>A	HSD11B2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1676307	GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3	AARS1, ABCC11 +368 more	Copy number gain	not provided	GPathogenic
Select item 1661702	NM_000196.4(HSD11B2):c.468C>T (p.Thr156=)	HSD11B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1486263	NM_000196.4(HSD11B2):c.935G>A (p.Arg312His)	HSD11B2 (R312H)	Single nucleotide variant (missense variant)	Apparent mineralocorticoid excess +1 more	GUncertain significance
Select item 1311586	NM_000196.4(HSD11B2):c.1007G>A (p.Arg336His)	HSD11B2 (R336H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1295141	NM_000196.4(HSD11B2):c.802+38A>G	HSD11B2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1256385	NM_000196.4(HSD11B2):c.177C>A (p.Ala59=)	HSD11B2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1231382	NC_000016.10:g.67430991G>A	HSD11B2	Single nucleotide variant	not provided	GBenign
Select item 1208628	NC_000016.10:g.67430908G>A	HSD11B2	Single nucleotide variant	not provided	GLikely benign
Select item 1188016	NM_000196.4(HSD11B2):c.*197C>T	HSD11B2	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1169108	NM_000196.4(HSD11B2):c.817G>A (p.Val273Met)	HSD11B2 (V273M)	Single nucleotide variant (missense variant)	Apparent mineralocorticoid excess +1 more	GBenign/Likely benign
Select item 1028126	NM_000196.4(HSD11B2):c.1010G>T (p.Arg337Leu)	HSD11B2 (R337L)	Single nucleotide variant (missense variant)	Apparent mineralocorticoid excess	GUncertain significance
Select item 974391	NM_000196.4(HSD11B2):c.983C>T (p.Ala328Val)	HSD11B2 (A328V)	Single nucleotide variant (missense variant)	Apparent mineralocorticoid excess	GLikely pathogenic
Select item 974390	NM_000196.4(HSD11B2):c.1020del (p.Gly341fs)	HSD11B2 (G341fs)	Deletion (frameshift variant)	Apparent mineralocorticoid excess	GPathogenic
Select item 973025	GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3	AARS1, ACD +268 more	Copy number gain	not provided	Gnot provided
Select item 815823	GRCh37/hg19 16q21-22.1(chr16:65669673-70180183)x1	EXOC3L1, ESRP2 +95 more	Copy number loss	not provided	GPathogenic
Select item 804920	NM_000196.4(HSD11B2):c.949G>A (p.Asp317Asn)	HSD11B2 (D317N)	Single nucleotide variant (missense variant)	Apparent mineralocorticoid excess +1 more	GUncertain significance
Select item 800834	NM_000196.4(HSD11B2):c.710C>T (p.Ala237Val)	HSD11B2 (A237V)	Single nucleotide variant (missense variant)	Apparent mineralocorticoid excess	GUncertain significance
Select item 755623	NM_000196.4(HSD11B2):c.1072C>T (p.Leu358=)	HSD11B2	Single nucleotide variant (synonymous variant)	Apparent mineralocorticoid excess +1 more	GLikely benign
Select item 750240	NM_000196.4(HSD11B2):c.357C>T (p.Pro119=)	HSD11B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 740916	NM_000196.4(HSD11B2):c.665-5C>T	HSD11B2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 731191	NM_000196.4(HSD11B2):c.1164C>T (p.Asp388=)	HSD11B2	Single nucleotide variant (synonymous variant)	Apparent mineralocorticoid excess +1 more	GLikely benign
Select item 723515	NM_000196.4(HSD11B2):c.664+16dup	HSD11B2	Duplication (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 722303	NM_000196.4(HSD11B2):c.681G>A (p.Pro227=)	HSD11B2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 711180	NM_000196.4(HSD11B2):c.1121G>A (p.Arg374Gln)	HSD11B2 (R374Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 625609	GRCh37/hg19 16q22.1(chr16:67132790-68166320)	ACD, AGRP +47 more	Copy number loss	not provided	GPathogenic
Select item 623311	NM_000196.4(HSD11B2):c.956_964dup (p.Val321_Val322insAlaProVal)	HSD11B2	Duplication (inframe_insertion)	Apparent mineralocorticoid excess	GUncertain significance
Select item 623310	NM_000196.4(HSD11B2):c.220_222delinsGG (p.Arg74fs)	HSD11B2 (R74fs)	Indel (frameshift variant)	Apparent mineralocorticoid excess	GUncertain significance
Select item 586030	NM_000196.4(HSD11B2):c.664+16del	HSD11B2	Deletion (intron variant)	not provided	GBenign
Select item 586029	NM_000196.4(HSD11B2):c.534G>A (p.Glu178=)	HSD11B2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 586028	NM_000196.4(HSD11B2):c.468C>A (p.Thr156=)	HSD11B2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 564331	GRCh37/hg19 16q12.2-22.2(chr16:54416050-72453266)x3	AARS1, ACD +194 more	Copy number gain	not provided	GPathogenic

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