BCL7C[gene] - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152605	GRCh38/hg38 16p12.2-11.2(chr16:23752047-31943755)x3	LOC130058732, LOC130058733 +504 more	Copy number gain	See cases	GPathogenic
Select item 151637	GRCh38/hg38 16p12.1-11.2(chr16:27311746-31193406)x3	ZNF747, ZNF747-DT +378 more	Copy number gain	See cases	GPathogenic
Select item 146013	GRCh38/hg38 16p11.2(chr16:29909613-31438697)x3	LOC130058889, LOC130058890 +207 more	Copy number gain	See cases	GPathogenic
Select item 144329	GRCh38/hg38 16p11.2-11.1(chr16:30691912-36160463)x3	AHSP, ARMC5 +136 more	Copy number gain	See cases	GPathogenic
Select item 3260665	NM_004765.4(BCL7C):c.643C>T (p.Pro215Ser)	BCL7C, MIR762HG (P215S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2205794	NM_004765.4(BCL7C):c.617C>A (p.Pro206Gln)	BCL7C, MIR762HG (P206Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2522976	NM_004765.4(BCL7C):c.602C>T (p.Ser201Leu)	BCL7C, MIR762HG (S201L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2569200	NM_004765.4(BCL7C):c.535G>A (p.Glu179Lys)	BCL7C, MIR762HG (E179K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1878504	NM_004765.4(BCL7C):c.528+3G>C	BCL7C, MIR762HG	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	Gnot provided
Select item 2223266	NM_004765.4(BCL7C):c.425G>A (p.Arg142Gln)	BCL7C, MIR762HG (R142Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2570243	NM_004765.4(BCL7C):c.422C>A (p.Pro141Gln)	BCL7C, MIR762HG (P141Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254400	NM_004765.4(BCL7C):c.308C>T (p.Ser103Leu)	BCL7C, MIR762HG (S103L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543387	NM_004765.4(BCL7C):c.251G>C (p.Gly84Ala)	BCL7C, MIR762HG (G84A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258897	NM_004765.4(BCL7C):c.224G>A (p.Arg75Gln)	BCL7C, MIR762HG (R75Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133442	NM_004765.4(BCL7C):c.220C>T (p.Arg74Cys)	BCL7C, MIR762HG (R74C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308011	NM_004765.4(BCL7C):c.188G>A (p.Gly63Asp)	BCL7C, MIR762HG (G63D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535517	NM_004765.4(BCL7C):c.109A>G (p.Thr37Ala)	BCL7C, MIR762HG (T37A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332521	NM_004765.4(BCL7C):c.73A>G (p.Ile25Val)	BCL7C, MIR762HG (I25V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243573	NC_000016.9:g.(?_28889993)_(31202759_?)del	ALDOA, ASPHD1 +76 more	Deletion	Dilated Cardiomyopathy, Dominant	GUncertain significance
Select item 2427156	NC_000016.9:g.(?_30712146)_(31021717_?)dup	BCL7C, CFAP119 +10 more	Duplication	Generalized epilepsy with febrile seizures plus, type 9	GUncertain significance
Select item 1809415	GRCh37/hg19 16p11.2(chr16:30460206-30906733)x3	BCL7C, CFAP119 +13 more	Copy number gain	not provided	GUncertain significance
Select item 979443	GRCh37/hg19 16p11.2(chr16:30350747-31905898)x3	STX4, DCTPP1 +52 more	Copy number gain	not provided	GUncertain significance
Select item 813717	GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001)	ABAT, ABCC1 +250 more	Copy number gain	Microcephaly	GPathogenic
Select item 687383	GRCh37/hg19 16p11.2(chr16:30851860-31156762)x1	BCKDK, BCL7C +14 more	Copy number loss	not provided	GPathogenic
Select item 598742	Single allele	TGFB1I1, TRIM72 +38 more	Deletion	Branched-chain keto acid dehydrogenase kinase deficiency	GUncertain significance
Select item 443355	GRCh37/hg19 16p11.2(chr16:30607048-31117069)x1	BCL7C, CFAP119 +18 more	Copy number loss	See cases	GUncertain significance
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	CBLN1, CCDC102A +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	CCL22, CCNF +811 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	ABCC6, BCL7C +811 more	Copy number gain	See cases	GPathogenic
Select item 395300	GRCh37/hg19 16p11.2(chr16:28826162-29043901)x1	AHSP, ALDOA +99 more	Copy number loss	See cases	GLikely pathogenic
Select item 375693	maternal UPD(16p)	ALG1, BICDL2 +388 more	Complex	Hemimegalencephaly	GPathogenic
Select item 221517	GRCh37/hg19 16p11.2(chr16:30391304-31122666)x3	BCKDK, BCL7C +30 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 221391	GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3	ABAT, ABCA3 +384 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 34