"PreventionGenetics, part of Exact Sciences"[submitter] AND "SELP"[gen - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3059830	NM_003005.4(SELP):c.2346G>A (p.Thr782=)	SELP	Single nucleotide variant (synonymous variant)	SELP-related disorder	GBenign
Select item 13527	NM_003005.4(SELP):c.2266A>C (p.Thr756Pro)	SELP (T756P)	Single nucleotide variant (missense variant)	SELP-related disorder	GBenign
Select item 3056507	NM_003005.4(SELP):c.1918G>T (p.Val640Leu)	SELP (V640L)	Single nucleotide variant (missense variant)	SELP-related disorder	GBenign
Select item 3055528	NM_003005.4(SELP):c.1812C>T (p.Asn604=)	SELP	Single nucleotide variant (synonymous variant)	SELP-related disorder	GBenign
Select item 3059039	NM_003005.4(SELP):c.1807G>A (p.Asp603Asn)	SELP (D603N)	Single nucleotide variant (missense variant)	SELP-related disorder	GBenign
Select item 3056728	NM_003005.4(SELP):c.1794C>T (p.Cys598=)	SELP	Single nucleotide variant (synonymous variant)	SELP-related disorder	GBenign
Select item 3060479	NM_003005.4(SELP):c.992G>A (p.Ser331Asn)	SELP (S331N)	Single nucleotide variant (missense variant)	SELP-related disorder	GBenign

ClinVar