ClinVar for MedGen (Select 815311) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1033462	NM_001946.4(DUSP6):c.117C>A (p.Cys39Ter)	DUSP6 (C39*)	Single nucleotide variant (nonsense)	Hypogonadotropic hypogonadism 19 with or without anosmia	GPathogenic
Select item 1029551	NM_001946.4(DUSP6):c.169G>A (p.Ala57Thr)	DUSP6 (A57T)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 19 with or without anosmia +1 more	GUncertain significance
Select item 802882	NM_001946.4(DUSP6):c.340G>T (p.Val114Leu)	DUSP6 (V114L)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 50857	NM_001946.4(DUSP6):c.229T>A (p.Phe77Ile)	DUSP6 (F77I)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 19 with or without anosmia	GUncertain significance
Select item 50856	NM_001946.4(DUSP6):c.1037C>T (p.Thr346Met)	DUSP6 (T346M +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 50855	NM_001946.4(DUSP6):c.545C>T (p.Ser182Phe)	DUSP6 (S182F)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 50854	NM_001946.4(DUSP6):c.566A>G (p.Asn189Ser)	DUSP6 (N189S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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