"Ambry Genetics"[submitter] AND "SMOX"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2467312	NM_175839.3(SMOX):c.62G>C (p.Arg21Thr)	SMOX (R21T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2248608	NM_175839.3(SMOX):c.469G>A (p.Asp157Asn)	SMOX (D157N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2235616	NM_175839.3(SMOX):c.568A>G (p.Thr190Ala)	SMOX (T190A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2377470	NM_175839.3(SMOX):c.740C>T (p.Ala247Val)	SMOX (A247V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2521697	NM_175839.3(SMOX):c.853G>A (p.Asp285Asn)	SMOX (D285N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2352772	NM_175839.3(SMOX):c.893A>T (p.Glu298Val)	SMOX (E298V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2461402	NM_175839.3(SMOX):c.965T>C (p.Leu322Pro)	SMOX (L322P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2476156	NM_175839.3(SMOX):c.1075C>A (p.Arg359Ser)	SMOX (R306S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2344836	NM_175839.3(SMOX):c.1076G>A (p.Arg359His)	SMOX (R359H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance