"GeneDx"[submitter] AND "HSD11B2"[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58632	GRCh38/hg38 16q21-23.1(chr16:58456122-74708723)x3	LOC130059197, LOC130059198 +575 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 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 447525	NM_000196.4(HSD11B2):c.266G>A (p.Gly89Asp)	HSD11B2 (G89D)	Single nucleotide variant (missense variant)	Apparent mineralocorticoid excess +2 more	GConflicting classifications of pathogenicity
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 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 36369	NM_000196.4(HSD11B2):c.588G>A (p.Ala196=)	HSD11B2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
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 1295141	NM_000196.4(HSD11B2):c.802+38A>G	HSD11B2	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 1311586	NM_000196.4(HSD11B2):c.1007G>A (p.Arg336His)	HSD11B2 (R336H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 711180	NM_000196.4(HSD11B2):c.1121G>A (p.Arg374Gln)	HSD11B2 (R374Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1188016	NM_000196.4(HSD11B2):c.*197C>T	HSD11B2	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign