26709[HGNC] - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	ABCA1, ADGRD2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC129390066, LOC129390067 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860762, LOC126860763 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	LOC124292579, LOC124292580 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	DENND4C, DIPK1B +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	ABCA2, ACER2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC130001660, LOC130001661 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	LOC126860587, LOC126860588 +3786 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	ABCA1, ABCA2 +3786 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	ABCA2, ABL1 +1268 more	Copy number gain	See cases	GPathogenic
Select item 57353	GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3	LOC130003132, LOC130003133 +1210 more	Copy number gain	See cases	GPathogenic
Select item 153090	GRCh38/hg38 9q33.2-33.3(chr9:123095598-126693843)x1	ADGRD2, ARPC5L +172 more	Copy number loss	See cases	GPathogenic
Select item 2511941	NM_001144877.3(SCAI):c.1750C>A (p.His584Asn)	SCAI (H584N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357310	NM_001144877.3(SCAI):c.1738C>A (p.His580Asn)	SCAI (H580N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381598	NM_001144877.3(SCAI):c.1633A>G (p.Ile545Val)	SCAI (I568V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255792	NM_001144877.3(SCAI):c.1591T>C (p.Phe531Leu)	SCAI (F554L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568967	NM_001144877.3(SCAI):c.1565G>A (p.Arg522His)	SCAI (R522H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316355	NM_001144877.3(SCAI):c.1558C>T (p.His520Tyr)	SCAI (H520Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353918	NM_001144877.3(SCAI):c.1535G>A (p.Arg512His)	SCAI (R512H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316356	NM_001144877.3(SCAI):c.1451T>C (p.Met484Thr)	SCAI (M484T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158197	NM_001144877.3(SCAI):c.1429C>T (p.Leu477Phe)	SCAI (L500F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333196	NM_001144877.3(SCAI):c.1328A>G (p.Asn443Ser)	SCAI (N443S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381814	NM_001144877.3(SCAI):c.1130G>A (p.Arg377His)	SCAI (R400H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271223	NM_001144877.3(SCAI):c.1079A>G (p.Asn360Ser)	SCAI (N383S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613673	NM_001144877.3(SCAI):c.945G>C (p.Met315Ile)	SCAI (M315I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490981	NM_001144877.3(SCAI):c.904C>G (p.Gln302Glu)	SCAI (Q325E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158201	NM_001144877.3(SCAI):c.838A>G (p.Ile280Val)	SCAI (I303V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559111	NM_001144877.3(SCAI):c.831C>G (p.Asp277Glu)	SCAI (D277E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364342	NM_001144877.3(SCAI):c.644G>A (p.Arg215Gln)	SCAI (R215Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487483	NM_001144877.3(SCAI):c.522G>T (p.Leu174Phe)	SCAI (L197F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158199	NM_001144877.3(SCAI):c.344G>T (p.Arg115Leu)	SCAI (R115L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158198	NM_001144877.3(SCAI):c.231A>G (p.Arg77=)	SCAI	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 148721	GRCh38/hg38 9q33.3-34.11(chr9:125055865-128637946)x1	AK1, ANGPTL2 +250 more	Copy number loss	See cases	GPathogenic
Select item 2280638	NM_001144877.3(SCAI):c.221A>G (p.Asn74Ser)	SCAI (N74S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316354	NM_001144877.3(SCAI):c.128C>A (p.Ser43Tyr)	SCAI (S43Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158200	NM_001144877.3(SCAI):c.74A>G (p.Lys25Arg)	SCAI (K25R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	ANKRD18A, ANKRD18B +768 more	Copy number gain	not specified	GPathogenic
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 563608	GRCh37/hg19 9q33.3(chr9:127782540-128008126)x3	RABEPK, PPP6C +2 more	Copy number gain	not provided	GUncertain significance
Select item 563573	GRCh37/hg19 9q33.3(chr9:127640127-127719081)x1	GOLGA1, SCAI	Copy number loss	not provided	GUncertain significance
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: 51