"PreventionGenetics, part of Exact Sciences"[submitter] AND "ICE2"[gen - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3057462	NM_024611.6(ICE2):c.2874A>G (p.Glu958=)	ICE2	Single nucleotide variant (synonymous variant +1 more)	ICE2-related disorder	GLikely benign
Select item 3043172	NM_024611.6(ICE2):c.2511-10T>C	ICE2	Single nucleotide variant (intron variant)	ICE2-related disorder	GLikely benign
Select item 3047191	NM_024611.6(ICE2):c.2079G>A (p.Pro693=)	ICE2	Single nucleotide variant (synonymous variant +1 more)	ICE2-related disorder	GLikely benign
Select item 3044137	NM_024611.6(ICE2):c.1515T>C (p.Asp505=)	ICE2	Single nucleotide variant (synonymous variant +1 more)	ICE2-related disorder	GLikely benign
Select item 3049232	NM_024611.6(ICE2):c.1463G>A (p.Gly488Glu)	ICE2 (G351E +1 more)	Single nucleotide variant (missense variant +1 more)	ICE2-related disorder	GLikely benign
Select item 3045480	NM_024611.6(ICE2):c.1242A>G (p.Ser414=)	ICE2	Single nucleotide variant (synonymous variant +1 more)	ICE2-related disorder	GLikely benign
Select item 3044984	NM_024611.6(ICE2):c.1125+13T>G	ICE2 (F380V)	Single nucleotide variant (missense variant +1 more)	ICE2-related disorder	GLikely benign
Select item 2635846	NM_024611.6(ICE2):c.783+1G>C	ICE2	Single nucleotide variant (splice donor variant)	ICE2-related disorder	GUncertain significance
Select item 2645386	NM_024611.6(ICE2):c.768T>C (p.Ala256=)	ICE2	Single nucleotide variant (synonymous variant +1 more)	ICE2-related disorder +1 more	GLikely benign
Select item 3054536	NM_024611.6(ICE2):c.41+10A>T	ICE2	Single nucleotide variant (intron variant)	ICE2-related disorder	GLikely benign
Select item 2632266	NM_024611.6(ICE2):c.13A>T (p.Met5Leu)	ICE2 (M5L)	Single nucleotide variant (5 prime UTR variant +2 more)	ICE2-related disorder	GUncertain significance