CCER1[gene] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 155032	GRCh38/hg38 12q21.1-22(chr12:73485697-92795805)x1	ACSS3, ALX1 +287 more	Copy number loss	See cases	GPathogenic
Select item 58230	GRCh38/hg38 12q21.33(chr12:90197297-91239004)x3	CCER1, DCN +11 more	Copy number gain	See cases	GUncertain significance
Select item 2308379	NM_152638.4(CCER1):c.1165A>T (p.Ile389Leu)	CCER1 (I389L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328881	NM_152638.4(CCER1):c.1097C>T (p.Ser366Leu)	CCER1 (S366L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255010	NM_152638.4(CCER1):c.1051G>C (p.Glu351Gln)	CCER1 (E351Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139665	NM_152638.4(CCER1):c.902G>A (p.Ser301Asn)	CCER1 (S301N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535321	NM_152638.4(CCER1):c.804C>A (p.Asn268Lys)	CCER1 (N268K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265983	NM_152638.4(CCER1):c.765G>C (p.Gln255His)	CCER1 (Q255H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482494	NM_152638.4(CCER1):c.751T>C (p.Tyr251His)	CCER1 (Y251H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298544	NM_152638.4(CCER1):c.673G>A (p.Ala225Thr)	CCER1 (A225T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269788	NM_152638.4(CCER1):c.650A>C (p.Gln217Pro)	CCER1, LOC130008371 (Q217P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284917	NM_152638.4(CCER1):c.610C>G (p.Gln204Glu)	CCER1, LOC130008371 (Q204E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480005	NM_152638.4(CCER1):c.609G>C (p.Gln203His)	CCER1, LOC130008371 (Q203H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395610	NM_152638.4(CCER1):c.464G>T (p.Arg155Leu)	CCER1 (R155L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537871	NM_152638.4(CCER1):c.445G>T (p.Gly149Cys)	CCER1 (G149C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217623	NM_152638.4(CCER1):c.424C>G (p.Arg142Gly)	CCER1 (R142G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286330	NM_152638.4(CCER1):c.286C>G (p.Pro96Ala)	CCER1 (P96A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264437	NM_152638.4(CCER1):c.272C>T (p.Pro91Leu)	CCER1 (P91L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288662	NM_152638.4(CCER1):c.256G>C (p.Gly86Arg)	CCER1 (G86R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264441	NM_152638.4(CCER1):c.241G>T (p.Val81Leu)	CCER1 (V81L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2242129	NM_152638.4(CCER1):c.218C>A (p.Pro73Gln)	CCER1 (P73Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369220	NM_152638.4(CCER1):c.128C>T (p.Pro43Leu)	CCER1 (P43L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264442	NM_152638.4(CCER1):c.127C>T (p.Pro43Ser)	CCER1 (P43S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264438	NM_152638.4(CCER1):c.94T>G (p.Leu32Val)	CCER1 (L32V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264439	NM_152638.4(CCER1):c.4A>G (p.Thr2Ala)	CCER1 (T2A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527724	GRCh37/hg19 12q21.33-22(chr12:91073628-92829926)	BTG1, CCER1 +7 more	Copy number loss	not specified	GUncertain significance
Select item 980450	GRCh37/hg19 12q21.33(chr12:90629021-91543515)x3	CCER1, LUM +3 more	Copy number gain	not provided	GUncertain significance
Select item 687328	GRCh37/hg19 12q21.2-22(chr12:77737623-94330526)x1	ACSS3, ALX1 +46 more	Copy number loss	not provided	GPathogenic
Select item 563983	GRCh37/hg19 12q21.32-21.33(chr12:87654236-91893923)x1	ATP2B1, C12orf50 +13 more	Copy number loss	not provided	GUncertain significance
Select item 563904	GRCh37/hg19 12q21.33(chr12:91345437-91440013)x1	EPYC, CCER1	Copy number loss	not provided	GUncertain significance
Select item 563899	GRCh37/hg19 12q21.33(chr12:91293407-91374740)x1	EPYC, CCER1	Copy number loss	not provided	GLikely benign
Select item 442370	GRCh37/hg19 12q21.33(chr12:90881837-91582957)x1	CCER1, DCN +3 more	Copy number loss	See cases	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic
Select item 253789	GRCh37/hg19 12q21.33(chr12:90910083-91560392)x3	EPYC, LUM +3 more	Copy number gain	See cases	GUncertain significance

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Items: 37