BRD3[gene] - ClinVar

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Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC126860768, LOC126860769 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC124310660, LOC124310661 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC111413024, LOC111413033 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC116216098, LOC116216099 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	LCN15, LCN2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC126860765, LOC126860766 +3785 more	Copy number gain	See cases	GPathogenic
Select item 145579	GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	ABCA2, ABL1 +1272 more	Copy number gain	See cases	GPathogenic
Select item 57324	GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3	LOC130003073, LOC130003074 +1268 more	Copy number gain	See cases	GPathogenic
Select item 57353	GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3	LOC130002603, LOC130002604 +1210 more	Copy number gain	See cases	GPathogenic
Select item 145575	GRCh38/hg38 9q34.11-34.3(chr9:129068560-138179445)x3	MIR3621, MIR3689A +789 more	Copy number gain	See cases	GPathogenic
Select item 59908	GRCh38/hg38 9q34.11-34.3(chr9:129068560-136495351)x3	ABL1, ABO +536 more	Copy number gain	See cases	GPathogenic
Select item 144296	GRCh38/hg38 9q34.11-34.3(chr9:130513207-138124532)x3	LOC112637025, LOC112639999 +656 more	Copy number gain	See cases	GPathogenic
Select item 154569	GRCh38/hg38 9q34.13-34.3(chr9:132386553-138059695)x3	LOC130003086, LOC130003087 +530 more	Copy number gain	See cases	GPathogenic
Select item 147626	GRCh38/hg38 9q34.13-34.3(chr9:132986903-138114463)x3	ABCA2, ABO +510 more	Copy number gain	See cases	GPathogenic
Select item 148759	GRCh38/hg38 9q34.2-34.3(chr9:133504071-138159073)x3	ABCA2, ADAMTSL2 +439 more	Copy number gain	See cases	GPathogenic
Select item 154888	GRCh38/hg38 9q34.2-34.3(chr9:133918071-138159073)x3	LOC130003003, LOC130003004 +417 more	Copy number gain	See cases	GPathogenic
Select item 151031	GRCh38/hg38 9q34.2-34.3(chr9:133996227-138124524)x3	ABCA2, AGPAT2 +405 more	Copy number gain	See cases	GPathogenic
Select item 788425	NM_007371.4(BRD3):c.2065+3dup	BRD3	Duplication (intron variant)	not provided	GBenign
Select item 2535483	NM_007371.4(BRD3):c.1765G>A (p.Gly589Arg)	BRD3 (G589R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2359636	NM_007371.4(BRD3):c.1682A>G (p.Tyr561Cys)	BRD3 (Y561C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2337979	NM_007371.4(BRD3):c.1633A>G (p.Thr545Ala)	BRD3 (T545A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2282069	NM_007371.4(BRD3):c.1559A>C (p.Lys520Thr)	BRD3 (K520T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2282068	NM_007371.4(BRD3):c.1558A>G (p.Lys520Glu)	BRD3 (K520E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2340617	NM_007371.4(BRD3):c.1289C>T (p.Ala430Val)	BRD3 (A430V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2600900	NM_007371.4(BRD3):c.1264G>T (p.Ala422Ser)	BRD3 (A422S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2537840	NM_007371.4(BRD3):c.1232G>A (p.Arg411Lys)	BRD3 (R411K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3024865	NM_007371.4(BRD3):c.1216-6C>T	BRD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 929765	NM_007371.4(BRD3):c.1149G>A (p.Met383Ile)	BRD3 (M383I)	Single nucleotide variant (missense variant)	Premature ovarian failure	GUncertain significance
Select item 2296487	NM_007371.4(BRD3):c.1048G>A (p.Asp350Asn)	BRD3 (D350N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2391883	NM_007371.4(BRD3):c.904G>A (p.Ala302Thr)	BRD3 (A302T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 744481	NM_007371.4(BRD3):c.903C>T (p.His301=)	BRD3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2239217	NM_007371.4(BRD3):c.856A>G (p.Ile286Val)	BRD3 (I286V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2389961	NM_007371.4(BRD3):c.817G>A (p.Ala273Thr)	BRD3 (A273T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2595170	NM_007371.4(BRD3):c.794C>T (p.Pro265Leu)	BRD3 (P265L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2570452	NM_007371.4(BRD3):c.788C>T (p.Ser263Leu)	BRD3 (S263L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2349335	NM_007371.4(BRD3):c.698C>T (p.Thr233Met)	BRD3 (T233M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2475142	NM_007371.4(BRD3):c.685G>A (p.Val229Met)	BRD3 (V229M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2396224	NM_007371.4(BRD3):c.679G>A (p.Val227Ile)	BRD3 (V227I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2528767	NM_007371.4(BRD3):c.617C>T (p.Ala206Val)	BRD3 (A206V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2276418	NM_007371.4(BRD3):c.595A>C (p.Thr199Pro)	BRD3 (T199P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2616553	NM_007371.4(BRD3):c.593C>T (p.Ala198Val)	BRD3 (A198V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2593768	NM_007371.4(BRD3):c.544C>A (p.Pro182Thr)	BRD3 (P182T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2348372	NM_007371.4(BRD3):c.517G>A (p.Ala173Thr)	BRD3 (A173T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2252904	NM_007371.4(BRD3):c.97G>C (p.Gly33Arg)	BRD3 (G33R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2392177	NM_007371.4(BRD3):c.47C>T (p.Pro16Leu)	BRD3 (P16L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 769759	NM_007371.4(BRD3):c.45C>A (p.Thr15=)	BRD3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	ABCA1, ABCA2 +769 more	Copy number gain	not specified	GPathogenic
Select item 2426886	NC_000009.11:g.(?_136218768)_(141016451_?)dup	ENTPD8, INPP5E +110 more	Duplication	Kleefstra syndrome 1	GUncertain significance
Select item 2426262	NC_000009.11:g.(?_131087402)_(141016451_?)dup	ABCA2, ABL1 +187 more	Duplication	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GUncertain significance
Select item 2422970	NC_000009.11:g.(?_135139626)_(140034216_?)dup	ABCA2, ABO +100 more	Duplication	Rafiq syndrome +4 more	GUncertain significance
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	OR1L4, PTRH1 +768 more	Copy number gain	not specified	GPathogenic
Select item 833105	NC_000009.11:g.(?_135771850)_(137038881_?)dup	FAM163B, GBGT1 +26 more	Duplication	Tuberous sclerosis 1	GUncertain significance
Select item 687100	GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3	ABCA1, ABCA2 +552 more	Copy number gain	not provided	GPathogenic
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	ABCA1, ABCA2 +769 more	Copy number gain	not provided	GPathogenic
Select item 652388	NC_000009.11:g.(?_134379574)_(138678377_?)dup	GTF3C4, GTF3C5 +55 more	Duplication	Ehlers-Danlos syndrome, classic type	GUncertain significance
Select item 563671	GRCh37/hg19 9q34.13-34.3(chr9:135105971-141020389)x3	ABCA2, ABO +130 more	Copy number gain	not provided	GPathogenic
Select item 523294	GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)	SEC16A, SEC61B +553 more	Copy number gain	Hypotonia +2 more	GLikely pathogenic
Select item 523169	GRCh37/hg19 9q34.13-34.3(chr9:135377559-141213431)x1	CAMSAP1, OLFM1 +128 more	Copy number loss	mTOR Inhibitor response	Gdrug response
Select item 443986	GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	SUSD3, SVEP1 +769 more	Copy number gain	See cases	GPathogenic
Select item 395707	GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	PPP1R26, PPP3R2 +771 more	Copy number gain	See cases	GPathogenic
Select item 395356	GRCh37/hg19 9q33.3-34.3(chr9:128652785-141044751)x3	ABCA2, ABL1 +228 more	Copy number gain	See cases	GPathogenic
Select item 394948	GRCh37/hg19 9q33.2-34.3(chr9:124642754-141146461)x3	ABCA2, ABL1 +279 more	Copy number gain	See cases	GPathogenic
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ANGPTL2, ANKRD18A +771 more	Copy number gain	See cases	GPathogenic
Select item 226195	GRCh37/hg19 9q34.2(chr9:136850292-137153876)	RNU6ATAC, BRD3 +2 more	Copy number gain	Abnormal esophagus morphology	GLikely benign

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Items: 67