"Ambry Genetics"[submitter] AND "CCNE1"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2301563	NM_001238.4(CCNE1):c.109G>C (p.Val37Leu)	CCNE1 (V37L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2247773	NM_001238.4(CCNE1):c.112T>C (p.Phe38Leu)	CCNE1 (F23L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2352448	NM_001238.4(CCNE1):c.125C>A (p.Pro42Gln)	CCNE1 (P27Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2339663	NM_001238.4(CCNE1):c.232C>A (p.Pro78Thr)	CCNE1 (P78T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2250582	NM_001238.4(CCNE1):c.319G>A (p.Val107Ile)	CCNE1 (V92I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2610811	NM_001238.4(CCNE1):c.700A>G (p.Met234Val)	CCNE1 (M185V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2308338	NM_001238.4(CCNE1):c.787C>T (p.His263Tyr)	CCNE1 (H248Y +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2623306	NM_001238.4(CCNE1):c.892A>G (p.Ile298Val)	CCNE1 (I253V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2345619	NM_001238.4(CCNE1):c.1048A>G (p.Arg350Gly)	CCNE1 (R305G +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2215831	NM_001238.4(CCNE1):c.1078A>G (p.Ile360Val)	CCNE1 (I311V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2517588	NM_001238.4(CCNE1):c.1198G>A (p.Gly400Ser)	CCNE1 (G385S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2623370	NM_001238.4(CCNE1):c.1216G>A (p.Gly406Arg)	CCNE1 (G357R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance