ClinVar for OMIM (Select 184757) - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 915901	NM_014587.5(SOX8):c.468G>C (p.Glu156Asp)	SOX8 (E156D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 156584	NM_012082.4(ZFPM2):c.779G>A (p.Arg260Gln)	ZFPM2, ZFPM2-AS1 (R260Q +2 more)	Single nucleotide variant (missense variant)	46,XY sex reversal 9	GPathogenic
Select item 156583	NM_012082.4(ZFPM2):c.1206T>A (p.Ser402Arg)	ZFPM2, ZFPM2-AS1 (S402R +2 more)	Single nucleotide variant (missense variant)	46,XY sex reversal 9	GPathogenic
Select item 88838	NM_001308093.3(GATA4):c.664G>A (p.Gly222Arg)	GATA4 (G221R +2 more)	Single nucleotide variant (missense variant)	Testicular anomalies with or without congenital heart disease	GPathogenic
Select item 39518	NM_012082.4(ZFPM2):c.1632G>A (p.Met544Ile)	ZFPM2, ZFPM2-AS1 (M544I +2 more)	Single nucleotide variant (missense variant)	46,XY sex reversal 9 +2 more	GConflicting classifications of pathogenicity
Select item 17516	NM_000781.3(CYP11A1):c.809_814dup (p.Asp271_Val272insGlyAsp)	CYP11A1	Duplication (inframe_insertion)	Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency	GPathogenic
Select item 16883	NM_000498.3(CYP11B2):c.-344T=	CYP11B2, LOC110673971	Single nucleotide variant	Aldosterone to renin ratio, increased	Gassociation
Select item 10975	NM_000475.5(NR0B1):c.1197C>A (p.Tyr399Ter)	NR0B1 (Y399*)	Single nucleotide variant (nonsense)	Congenital adrenal hypoplasia, X-linked	GPathogenic