"PreventionGenetics, part of Exact Sciences"[submitter] AND "ICE1"[gen - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2633450	NM_015325.3(ICE1):c.2039T>C (p.Leu680Ser)	ICE1 (L680S)	Single nucleotide variant (missense variant)	ICE1-related disorder	GUncertain significance
Select item 3029033	NM_015325.3(ICE1):c.3197C>T (p.Thr1066Ile)	ICE1 (T1066I)	Single nucleotide variant (missense variant)	ICE1-related disorder	GUncertain significance
Select item 3043212	NM_015325.3(ICE1):c.4222G>C (p.Val1408Leu)	ICE1 (V1408L)	Single nucleotide variant (missense variant)	ICE1-related disorder	GUncertain significance
Select item 3049775	NM_015325.3(ICE1):c.4389A>G (p.Pro1463=)	ICE1	Single nucleotide variant (synonymous variant)	ICE1-related disorder	GLikely benign
Select item 756583	NM_015325.3(ICE1):c.4869A>G (p.Lys1623=)	ICE1	Single nucleotide variant (synonymous variant)	ICE1-related disorder +1 more	GLikely benign

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