ClinVar for MedGen (Select 90983) - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2671761	NM_000196.4(HSD11B2):c.745G>A (p.Glu249Lys)	HSD11B2 (E249K)	Single nucleotide variant (missense variant)	Apparent mineralocorticoid excess	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 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 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 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 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)	not provided +1 more	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)	Apparent mineralocorticoid excess +1 more	GBenign/Likely benign
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 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 586028	NM_000196.4(HSD11B2):c.468C>A (p.Thr156=)	HSD11B2	Single nucleotide variant (synonymous variant)	Apparent mineralocorticoid excess +1 more	GBenign
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 447525	NM_000196.4(HSD11B2):c.266G>A (p.Gly89Asp)	HSD11B2 (G89D)	Single nucleotide variant (missense variant)	not provided +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 36369	NM_000196.4(HSD11B2):c.588G>A (p.Ala196=)	HSD11B2	Single nucleotide variant (synonymous variant)	Apparent mineralocorticoid excess +2 more	GBenign
Select item 31132	NM_000196.4(HSD11B2):c.77_78del (p.Arg25_Ser26insTer)	HSD11B2	Deletion (nonsense)	Apparent mineralocorticoid excess	GPathogenic
Select item 31131	NM_000196.4(HSD11B2):c.1012T>C (p.Tyr338His)	HSD11B2 (Y338H)	Single nucleotide variant (missense variant)	Apparent mineralocorticoid excess	GPathogenic
Select item 31130	NM_000196.4(HSD11B2):c.664+14C>T	HSD11B2	Single nucleotide variant (intron variant)	Apparent mineralocorticoid excess	GPathogenic
Select item 12102	NM_000196.4(HSD11B2):c.895_897del (p.Tyr299del)	HSD11B2 (Y299del)	Deletion (inframe_deletion)	Apparent mineralocorticoid excess	GPathogenic
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 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 12098	NM_000196.4(HSD11B2):c.835C>T (p.Arg279Cys)	HSD11B2 (R279C)	Single nucleotide variant (missense variant)	Apparent mineralocorticoid excess	GPathogenic
Select item 12097	NM_000196.4(HSD11B2):c.1010_1012del (p.Arg337_Tyr338delinsHis)	HSD11B2	Deletion (inframe_indel)	Apparent mineralocorticoid excess	GLikely pathogenic
Select item 12096	NM_000196.4(HSD11B2):c.623G>A (p.Arg208His)	HSD11B2 (R208H)	Single nucleotide variant (missense variant)	Apparent mineralocorticoid excess +1 more	GPathogenic/Likely pathogenic
Select item 12095	NM_000196.4(HSD11B2):c.1009C>T (p.Arg337Cys)	HSD11B2 (R337C)	Single nucleotide variant (missense variant)	Apparent mineralocorticoid excess	GPathogenic
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 12093	NM_000196.4(HSD11B2):c.622C>T (p.Arg208Cys)	HSD11B2 (R208C)	Single nucleotide variant (missense variant)	Apparent mineralocorticoid excess	GLikely pathogenic

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Items: 35