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

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 376909	NM_014026.6(DCPS):c.677G>A (p.Gly226Asp)	DCPS, GSEC (G226D +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 2534038	NM_014026.6(DCPS):c.691C>T (p.Arg231Cys)	DCPS, GSEC (R238C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1033250	NM_014026.6(DCPS):c.704C>T (p.Pro235Leu)	DCPS, GSEC (P242L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3080587	NM_014026.6(DCPS):c.715C>T (p.Pro239Ser)	DCPS, GSEC (P246S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3080588	NM_014026.6(DCPS):c.752C>T (p.Ala251Val)	DCPS, GSEC (A258V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3080589	NM_014026.6(DCPS):c.800T>G (p.Leu267Arg)	DCPS, GSEC (L267R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3271119	NM_014026.6(DCPS):c.844G>A (p.Ala282Thr)	DCPS, GSEC (A282T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3080590	NM_014026.6(DCPS):c.856G>A (p.Glu286Lys)	DCPS, GSEC (E293K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3271112	NM_014026.6(DCPS):c.884C>T (p.Ala295Val)	DCPS, GSEC (A295V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3271114	NM_014026.6(DCPS):c.944G>T (p.Arg315Leu)	DCPS, GSEC (R315L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance