"Ambry Genetics"[submitter] AND "INSIG1-DT"[gene] - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2268694	NM_005542.6(INSIG1):c.14A>G (p.His5Arg)	INSIG1, INSIG1-DT (H5R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2230288	NM_005542.6(INSIG1):c.91G>A (p.Ala31Thr)	INSIG1, INSIG1-DT (A31T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2590713	NM_005542.6(INSIG1):c.95C>G (p.Ala32Gly)	INSIG1, INSIG1-DT (A32G)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2623847	NM_005542.6(INSIG1):c.286G>T (p.Val96Leu)	INSIG1, INSIG1-DT (V96L)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2350357	NM_005542.6(INSIG1):c.364A>G (p.Ile122Val)	INSIG1, INSIG1-DT (I122V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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