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

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2343769	NM_001007228.2(SPOP):c.895G>A (p.Val299Met)	SPOP (V299M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2217093	NM_001007228.2(SPOP):c.779C>T (p.Thr260Met)	SPOP (T260M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 830355	NM_001007228.2(SPOP):c.362G>A (p.Arg121Gln)	SPOP (R121Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 3169321	NM_001007228.2(SPOP):c.344A>T (p.Lys115Ile)	SPOP (K115I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3169322	NM_001007228.2(SPOP):c.52G>A (p.Val18Ile)	SPOP (V18I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign

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