998[HGNC] - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2592580	NM_005178.5(BCL3):c.8G>A (p.Arg3Gln)	BCL3, LOC130064643 (R3Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597592	NM_005178.5(BCL3):c.64G>A (p.Ala22Thr)	BCL3, LOC130064643 (A22T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269954	NM_005178.5(BCL3):c.107C>T (p.Pro36Leu)	BCL3, LOC130064643 (P36L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301602	NM_005178.5(BCL3):c.130C>A (p.Pro44Thr)	BCL3, LOC130064643 (P44T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392098	NM_005178.5(BCL3):c.133G>A (p.Ala45Thr)	BCL3, LOC130064643 (A45T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521302	NM_005178.5(BCL3):c.134C>T (p.Ala45Val)	BCL3, LOC130064643 (A45V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237609	NM_005178.5(BCL3):c.134C>A (p.Ala45Asp)	BCL3, LOC130064643 (A45D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276129	NM_005178.5(BCL3):c.136G>T (p.Ala46Ser)	BCL3, LOC130064643 (A46S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244849	NM_005178.5(BCL3):c.152C>A (p.Ala51Glu)	BCL3, LOC130064643 (A51E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378816	NM_005178.5(BCL3):c.182G>A (p.Arg61His)	BCL3 (R61H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215089	NM_005178.5(BCL3):c.193G>A (p.Asp65Asn)	BCL3 (D65N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133430	NM_005178.5(BCL3):c.203C>T (p.Ala68Val)	BCL3 (A68V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260662	NM_005178.5(BCL3):c.214C>T (p.Pro72Ser)	BCL3 (P72S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551253	NM_005178.5(BCL3):c.236C>T (p.Pro79Leu)	BCL3 (P79L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596040	NM_005178.5(BCL3):c.244C>T (p.Leu82Phe)	BCL3 (L82F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381194	NM_005178.5(BCL3):c.244C>G (p.Leu82Val)	BCL3 (L82V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384745	NM_005178.5(BCL3):c.315C>A (p.Asn105Lys)	BCL3 (N105K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259984	NM_005178.5(BCL3):c.335C>A (p.Pro112His)	BCL3 (P112H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133431	NM_005178.5(BCL3):c.376G>A (p.Ala126Thr)	BCL3 (A126T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609897	NM_005178.5(BCL3):c.389G>A (p.Arg130His)	BCL3 (R130H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133432	NM_005178.5(BCL3):c.509A>G (p.Asn170Ser)	BCL3 (N170S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133433	NM_005178.5(BCL3):c.515G>A (p.Arg172Gln)	BCL3 (R172Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777532	NM_005178.5(BCL3):c.596T>C (p.Met199Thr)	BCL3 (M199T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2380231	NM_005178.5(BCL3):c.640G>C (p.Glu214Gln)	BCL3 (E214Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456325	NM_005178.5(BCL3):c.665G>A (p.Arg222Gln)	BCL3 (R222Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 252648	NM_005178.5(BCL3):c.772G>A (p.Val258Met)	BCL3 (V258M)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2688664	NM_005178.5(BCL3):c.803T>G (p.Ile268Ser)	BCL3 (I268S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 769458	NM_005178.5(BCL3):c.882G>T (p.Leu294=)	BCL3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3024868	NM_005178.5(BCL3):c.909C>T (p.Asn303=)	BCL3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 757967	NM_005178.5(BCL3):c.1177+10C>T	BCL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3133427	NM_005178.5(BCL3):c.1219C>T (p.Pro407Ser)	BCL3 (P407S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467282	NM_005178.5(BCL3):c.1247T>C (p.Met416Thr)	BCL3 (M416T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546951	NM_005178.5(BCL3):c.1252C>G (p.Pro418Ala)	BCL3 (P418A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133428	NM_005178.5(BCL3):c.1331C>T (p.Pro444Leu)	BCL3 (P444L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531277	NM_005178.5(BCL3):c.1331C>A (p.Pro444Gln)	BCL3 (P444Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588610	NM_005178.5(BCL3):c.1355G>C (p.Gly452Ala)	BCL3 (G452A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1526667	GRCh37/hg19 19q13.31-13.32(chr19:45074342-46133841)	APOC1, APOC2 +36 more	Copy number gain	not specified	GUncertain significance
Select item 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	C5AR1, C5AR2 +293 more	Copy number gain	not provided	GPathogenic
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ZNF607, ZNF780A +432 more	Copy number gain	not provided	GPathogenic
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 442437	GRCh37/hg19 19q13.31-13.32(chr19:44300416-45639540)x1	APOC1, APOC2 +39 more	Copy number loss	See cases	GUncertain significance
Select item 253540	GRCh37/hg19 19q13.2-13.32(chr19:43013365-47241534)x1	APOC1, APOC2 +120 more	Copy number loss	See cases	GPathogenic
Select item 221352	chr19:44501518-45322744 complex variant	BCAM, BCL3 +22 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 44