ClinVar for Gene (Select 898) - ClinVar

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Links from Gene

Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3264549	NM_001238.4(CCNE1):c.972A>G (p.Ile324Met)	CCNE1 (I279M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264548	NM_001238.4(CCNE1):c.22C>T (p.Arg8Trp)	CCNE1 (R8W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3264547	NM_001238.4(CCNE1):c.14G>T (p.Arg5Leu)	CCNE1 (R5L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3257834	NM_001238.4(CCNE1):c.360G>C (p.Met120Ile)	CCNE1 (M105I +1 more)	Single nucleotide variant (missense variant)	Neoplasm	OUncertain significance
Select item 3139920	NM_001238.4(CCNE1):c.803C>T (p.Pro268Leu)	CCNE1 (P219L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139919	NM_001238.4(CCNE1):c.533C>T (p.Ala178Val)	CCNE1 (A163V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139918	NM_001238.4(CCNE1):c.332C>G (p.Ala111Gly)	CCNE1 (A111G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139917	NM_001238.4(CCNE1):c.247G>C (p.Asp83His)	CCNE1 (D68H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139916	NM_001238.4(CCNE1):c.245A>G (p.Asp82Gly)	CCNE1 (D82G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062386	GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3	SLC7A9, SNRPA +215 more	Copy number gain	not specified	GPathogenic
Select item 2623370	NM_001238.4(CCNE1):c.1216G>A (p.Gly406Arg)	CCNE1 (G357R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623306	NM_001238.4(CCNE1):c.892A>G (p.Ile298Val)	CCNE1 (I253V +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2610811	NM_001238.4(CCNE1):c.700A>G (p.Met234Val)	CCNE1 (M185V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517588	NM_001238.4(CCNE1):c.1198G>A (p.Gly400Ser)	CCNE1 (G385S +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2352448	NM_001238.4(CCNE1):c.125C>A (p.Pro42Gln)	CCNE1 (P27Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345619	NM_001238.4(CCNE1):c.1048A>G (p.Arg350Gly)	CCNE1 (R305G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339663	NM_001238.4(CCNE1):c.232C>A (p.Pro78Thr)	CCNE1 (P78T +1 more)	Single nucleotide variant (missense variant)	not specified	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)	not specified	GLikely benign
Select item 2301563	NM_001238.4(CCNE1):c.109G>C (p.Val37Leu)	CCNE1 (V37L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250582	NM_001238.4(CCNE1):c.319G>A (p.Val107Ile)	CCNE1 (V92I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247773	NM_001238.4(CCNE1):c.112T>C (p.Phe38Leu)	CCNE1 (F23L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215831	NM_001238.4(CCNE1):c.1078A>G (p.Ile360Val)	CCNE1 (I311V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1330177	GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3	ACP7, ACTMAP +255 more	Copy number gain	Specific learning disability	GPathogenic
Select item 980759	GRCh37/hg19 19q12(chr19:29739728-31053524)x3	C19orf12, CCNE1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ZNF607, ZNF780A +432 more	Copy number gain	not provided	GPathogenic
Select item 564604	GRCh37/hg19 19q12(chr19:29083484-31804809)x3	VSTM2B, ZNF536 +7 more	Copy number gain	not provided	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443316	GRCh37/hg19 19q12(chr19:30112378-31939682)x3	C19orf12, CCNE1 +4 more	Copy number gain	See cases	GLikely pathogenic
Select item 442775	GRCh37/hg19 19q11-12(chr19:28271107-31110233)x1	C19orf12, CCNE1 +6 more	Copy number loss	See cases	GLikely pathogenic
Select item 155638	GRCh38/hg38 19q11-13.11(chr19:27780238-34783942)x3	ANKRD27, C19orf12 +210 more	Copy number gain	See cases	GUncertain significance
Select item 153639	GRCh38/hg38 19q12-13.11(chr19:29051888-31967596)x1	C19orf12, CCNE1 +71 more	Copy number loss	See cases	GLikely pathogenic
Select item 147631	GRCh38/hg38 19q12-13.13(chr19:29671324-37902990)x1	ALKBH6, ANKRD27 +439 more	Copy number loss	See cases	GPathogenic
Select item 146619	GRCh38/hg38 19q12-13.13(chr19:29661858-38114723)x1	ALKBH6, ANKRD27 +459 more	Copy number loss	See cases	GPathogenic
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 57042	GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3	LOC130064154, LOC130064155 +625 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 36