"PreventionGenetics, part of Exact Sciences"[submitter] AND "SLMAP"[ge - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2630206	NM_001377540.1(SLMAP):c.535G>A (p.Glu179Lys)	SLMAP (E179K)	Single nucleotide variant (missense variant +1 more)	SLMAP-related disorder	GUncertain significance
Select item 1133382	NM_001377540.1(SLMAP):c.564G>A (p.Thr188=)	SLMAP	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GLikely benign
Select item 260135	NM_001377540.1(SLMAP):c.828+11C>A	SLMAP	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 260134	NM_001377540.1(SLMAP):c.1300+14A>G	SLMAP	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 416634	NM_001377540.1(SLMAP):c.1317A>G (p.Glu439=)	SLMAP	Single nucleotide variant (synonymous variant +2 more)	SLMAP-related disorder +2 more	GBenign/Likely benign

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