3291[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155685	GRCh38/hg38 16q12.1-22.1(chr16:49685521-68401712)x3	LOC130059125, LOC130059126 +675 more	Copy number gain	See cases	GPathogenic
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	LOC130059149, LOC130059150 +1738 more	Copy number gain	See cases	GPathogenic
Select item 58630	GRCh38/hg38 16q13-22.2(chr16:56883592-71279975)x3	LOC130059330, LOC130059331 +599 more	Copy number gain	See cases	GPathogenic
Select item 58632	GRCh38/hg38 16q21-23.1(chr16:58456122-74708723)x3	LOC130059197, LOC130059198 +575 more	Copy number gain	See cases	GPathogenic
Select item 59491	GRCh38/hg38 16q21-22.1(chr16:62179331-67770414)x1	ACD, AGRP +176 more	Copy number loss	See cases	GPathogenic
Select item 146601	GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3	AARS1, ACD +939 more	Copy number gain	See cases	GPathogenic
Select item 59493	GRCh38/hg38 16q21-22.1(chr16:64311275-68062011)x1	ACD, AGRP +217 more	Copy number loss	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	LOC130059618, LOC130059619 +1429 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	AARS1, ACD +1426 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	AARS1, ACD +1424 more	Copy number gain	See cases	GPathogenic
Select item 155675	GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3	LOC130059185, LOC130059186 +869 more	Copy number gain	See cases	GPathogenic
Select item 145310	GRCh38/hg38 16q21-22.1(chr16:66245888-67473023)x1	ATP6V0D1, B3GNT9 +113 more	Copy number loss	See cases	GPathogenic
Select item 59494	GRCh38/hg38 16q22.1(chr16:66694180-67865445)x1	ACD, AGRP +155 more	Copy number loss	See cases	GPathogenic
Select item 1208628	NC_000016.10:g.67430908G>A	HSD11B2	Single nucleotide variant	not provided	GLikely benign
Select item 1231382	NC_000016.10:g.67430991G>A	HSD11B2	Single nucleotide 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 2980662	NM_000196.4(HSD11B2):c.42C>T (p.Leu14=)	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 2311051	NM_000196.4(HSD11B2):c.73C>A (p.Arg25Ser)	HSD11B2 (R25S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 31132	NM_000196.4(HSD11B2):c.77_78del (p.Arg25_Ser26insTer)	HSD11B2	Deletion (nonsense)	Apparent mineralocorticoid excess	GPathogenic
Select item 2033856	NM_000196.4(HSD11B2):c.83_177del (p.Leu28fs)	HSD11B2 (L28fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2498668	NM_000196.4(HSD11B2):c.99G>A (p.Pro33=)	HSD11B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1989648	NM_000196.4(HSD11B2):c.124G>A (p.Ala42Thr)	HSD11B2 (A42T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2876313	NM_000196.4(HSD11B2):c.168_195del (p.Ala57fs)	HSD11B2 (A57fs)	Deletion (frameshift variant)	not provided	GPathogenic
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 2474993	NM_000196.4(HSD11B2):c.172C>T (p.Leu58Phe)	HSD11B2 (L58F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2870444	NM_000196.4(HSD11B2):c.183G>A (p.Leu61=)	HSD11B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2008819	NM_000196.4(HSD11B2):c.193_194insCAG (p.Ala64_Gly65insAla)	HSD11B2	Insertion (inframe_insertion)	not provided	GUncertain significance
Select item 3002002	NM_000196.4(HSD11B2):c.210C>T (p.Ser70=)	HSD11B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 623310	NM_000196.4(HSD11B2):c.220_222delinsGG (p.Arg74fs)	HSD11B2 (R74fs)	Indel (frameshift variant)	Apparent mineralocorticoid excess	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 2483713	NM_000196.4(HSD11B2):c.236C>T (p.Pro79Leu)	HSD11B2 (P79L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 447525	NM_000196.4(HSD11B2):c.266G>A (p.Gly89Asp)	HSD11B2 (G89D)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 438714	NM_000196.4(HSD11B2):c.272A>C (p.Asp91Ala)	HSD11B2 (D91A)	Single nucleotide variant (missense variant)	Apparent mineralocorticoid excess	GUncertain significance
Select item 2885399	NM_000196.4(HSD11B2):c.318C>T (p.Gly106=)	HSD11B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2192958	NM_000196.4(HSD11B2):c.336C>T (p.Thr112=)	HSD11B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 12100	NM_000196.4(HSD11B2):c.343_348del (p.Glu115_Leu116del)	HSD11B2	Deletion (inframe_deletion)	Apparent mineralocorticoid excess +1 more	GConflicting classifications of pathogenicity
Select item 750240	NM_000196.4(HSD11B2):c.357C>T (p.Pro119=)	HSD11B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 447526	NM_000196.4(HSD11B2):c.440G>A (p.Arg147His)	HSD11B2 (R147H)	Single nucleotide variant (missense variant)	not specified +1 more	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 2041404	NM_000196.4(HSD11B2):c.460G>A (p.Ala154Thr)	HSD11B2 (A154T)	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 1661702	NM_000196.4(HSD11B2):c.468C>T (p.Thr156=)	HSD11B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 586028	NM_000196.4(HSD11B2):c.468C>A (p.Thr156=)	HSD11B2	Single nucleotide variant (synonymous variant)	Apparent mineralocorticoid excess +1 more	GBenign
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 2183074	NM_000196.4(HSD11B2):c.478G>A (p.Gly160Ser)	HSD11B2 (G160S)	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 2432534	NM_000196.4(HSD11B2):c.512A>G (p.Asn171Ser)	HSD11B2 (N171S)	Single nucleotide variant (missense variant)	Apparent mineralocorticoid excess	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 586029	NM_000196.4(HSD11B2):c.534G>A (p.Glu178=)	HSD11B2	Single nucleotide variant (synonymous variant)	Apparent mineralocorticoid excess +1 more	GBenign/Likely benign
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 2771416	NM_000196.4(HSD11B2):c.555C>G (p.Phe185Leu)	HSD11B2 (F185L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1923991	NM_000196.4(HSD11B2):c.559A>G (p.Ser187Gly)	HSD11B2 (S187G)	Single nucleotide variant (missense variant)	not provided	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 2040857	NM_000196.4(HSD11B2):c.587C>G (p.Ala196Gly)	HSD11B2 (A196G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 36369	NM_000196.4(HSD11B2):c.588G>A (p.Ala196=)	HSD11B2	Single nucleotide variant (synonymous variant)	HSD11B2-related disorder +2 more	GBenign
Select item 12093	NM_000196.4(HSD11B2):c.622C>T (p.Arg208Cys)	HSD11B2 (R208C)	Single nucleotide variant (missense variant)	Apparent mineralocorticoid excess	GLikely pathogenic
Select item 12096	NM_000196.4(HSD11B2):c.623G>A (p.Arg208His)	HSD11B2 (R208H)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 12094	NM_000196.4(HSD11B2):c.637C>T (p.Arg213Cys)	HSD11B2 (R213C)	Single nucleotide variant (missense variant)	Apparent mineralocorticoid excess	GPathogenic
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 723515	NM_000196.4(HSD11B2):c.664+16dup	HSD11B2	Duplication (intron variant)	Apparent mineralocorticoid excess +1 more	GBenign/Likely benign
Select item 586030	NM_000196.4(HSD11B2):c.664+16del	HSD11B2	Deletion (intron variant)	not provided +1 more	GBenign
Select item 2957351	NM_000196.4(HSD11B2):c.664+13C>G	HSD11B2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 31130	NM_000196.4(HSD11B2):c.664+14C>T	HSD11B2	Single nucleotide variant (intron variant)	Apparent mineralocorticoid excess	GPathogenic
Select item 3057334	NM_000196.4(HSD11B2):c.664+15C>A	HSD11B2	Single nucleotide variant (intron variant)	HSD11B2-related disorder	GLikely benign
Select item 2957987	NM_000196.4(HSD11B2):c.664+16C>G	HSD11B2	Single nucleotide variant (intron 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 12101	NM_000196.4(HSD11B2):c.667G>A (p.Asp223Asn)	HSD11B2 (D223N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 12099	NM_000196.4(HSD11B2):c.680C>T (p.Pro227Leu)	HSD11B2 (P227L)	Single nucleotide variant (missense variant)	Apparent mineralocorticoid excess, mild	GPathogenic
Select item 722303	NM_000196.4(HSD11B2):c.681G>A (p.Pro227=)	HSD11B2	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2475572	NM_000196.4(HSD11B2):c.707A>T (p.Lys236Ile)	HSD11B2 (K236I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2386344	NM_000196.4(HSD11B2):c.715G>A (p.Val239Met)	HSD11B2 (V239M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2122078	NM_000196.4(HSD11B2):c.728T>C (p.Met243Thr)	HSD11B2 (M243T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2789381	NM_000196.4(HSD11B2):c.735dup (p.Phe246fs)	HSD11B2 (F246fs)	Duplication (frameshift variant)	not provided	GPathogenic
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 2047042	NM_000196.4(HSD11B2):c.802+5G>C	HSD11B2	Single nucleotide variant (intron variant)	not specified +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 1295141	NM_000196.4(HSD11B2):c.802+38A>G	HSD11B2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1169108	NM_000196.4(HSD11B2):c.817G>A (p.Val273Met)	HSD11B2 (V273M)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 12098	NM_000196.4(HSD11B2):c.835C>T (p.Arg279Cys)	HSD11B2 (R279C)	Single nucleotide variant (missense variant)	Apparent mineralocorticoid excess	GPathogenic
Select item 2869906	NM_000196.4(HSD11B2):c.837C>T (p.Arg279=)	HSD11B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 12102	NM_000196.4(HSD11B2):c.895_897del (p.Tyr299del)	HSD11B2 (Y299del)	Deletion (inframe_deletion)	Apparent mineralocorticoid excess	GPathogenic
Select item 3004042	NM_000196.4(HSD11B2):c.903G>A (p.Glu301=)	HSD11B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 2186323	NM_000196.4(HSD11B2):c.945G>A (p.Met315Ile)	HSD11B2 (M315I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2976748	NM_000196.4(HSD11B2):c.948C>T (p.Ser316=)	HSD11B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2544038	NM_000196.4(HSD11B2):c.953T>C (p.Leu318Pro)	HSD11B2 (L318P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 623311	NM_000196.4(HSD11B2):c.956_964dup (p.Val321_Val322insAlaProVal)	HSD11B2	Duplication (inframe_insertion)	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

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