7234[HGNC] - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59124	GRCh38/hg38 9q33.2-33.3(chr9:120938041-123469664)x1	C5, C5-OT1 +99 more	Copy number loss	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	ABCA2, ABL1 +1268 more	Copy number gain	See cases	GPathogenic
Select item 2590000	NM_138777.5(MRRF):c.46C>T (p.Arg16Cys)	MRRF (R16C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 1801805	NM_138777.5(MRRF):c.79T>G (p.Ser27Ala)	MRRF (S27A +1 more)	Single nucleotide variant (missense variant +3 more)	Myoepithelial tumor	GUncertain significance
Select item 3296143	NM_138777.5(MRRF):c.131A>G (p.Tyr44Cys)	MRRF (Y44C +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3209826	NM_138777.5(MRRF):c.142T>A (p.Ser48Thr)	MRRF (S4T +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2376805	NM_138777.5(MRRF):c.214G>A (p.Val72Met)	MRRF (V72M +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2251066	NM_138777.5(MRRF):c.319C>T (p.Leu107Phe)	MRRF (L107F +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2269757	NM_138777.5(MRRF):c.332C>G (p.Thr111Ser)	MRRF (T20S +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2209705	NM_138777.5(MRRF):c.439A>T (p.Asn147Tyr)	MRRF (N56Y +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2391880	NM_138777.5(MRRF):c.469G>A (p.Ala157Thr)	MRRF (A113T +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2268426	NM_138777.5(MRRF):c.470C>T (p.Ala157Val)	MRRF (A113V +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3209853	NM_138777.5(MRRF):c.493A>G (p.Ser165Gly)	MRRF (S165G +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3296142	NM_138777.5(MRRF):c.530T>G (p.Leu177Arg)	MRRF (L198R +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3296141	NM_138777.5(MRRF):c.610G>A (p.Ala204Thr)	MRRF (A113T +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2510278	NM_138777.5(MRRF):c.626G>A (p.Arg209Gln)	MRRF (R118Q +4 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 218837	NM_138777.5(MRRF):c.646A>G (p.Met216Val)	MRRF (M216V +5 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 3209862	NM_138777.5(MRRF):c.665C>T (p.Ser222Phe)	MRRF (S131F +4 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3063098	GRCh37/hg19 9q33.2-33.3(chr9:122755951-127551056)x1	ADGRD2, C5 +50 more	Copy number loss	not specified	GPathogenic
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 1808695	GRCh37/hg19 9q33.2-33.3(chr9:124018736-129995568)x1	ADGRD2, ANGPTL2 +59 more	Copy number loss	not provided	GPathogenic
Select item 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ADAMTSL1, CEP78 +596 more	Copy number gain	See cases	GPathogenic
Select item 1527545	GRCh37/hg19 9q32-34.11(chr9:116422275-131713233)	ADGRD2, AK1 +141 more	Copy number gain	not specified	GPathogenic
Select item 1527539	GRCh37/hg19 9q31.1-33.3(chr9:104604851-126253089)	ABCA1, ABITRAM +130 more	Copy number loss	not specified	GPathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	ANKRD18A, ANKRD18B +768 more	Copy number gain	not specified	GPathogenic
Select item 1341250	GRCh37/hg19 9q33.1-33.3(chr9:120045175-127335905)x1	ADGRD2, ASTN2 +49 more	Copy number loss	not provided	GPathogenic
Select item 815293	GRCh37/hg19 9q33.2-33.3(chr9:124604592-126306080)x1	CRB2, DENND1A +28 more	Copy number loss	not provided	GUncertain significance
Select item 687100	GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3	AMBP, ANAPC2 +552 more	Copy number gain	not provided	GPathogenic
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	MSMP, OR13D1 +769 more	Copy number gain	not provided	GPathogenic
Select item 523294	GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)	ANGPTL2, ANKS6 +555 more	Copy number gain	Seizure +2 more	GLikely pathogenic
Select item 443986	GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	ODF2, OGN +769 more	Copy number gain	See cases	GPathogenic
Select item 395707	GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	ABCA1, ABCA2 +771 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	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic

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Items: 44