1317[geneid] - ClinVar

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Items: 48

	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 59881	GRCh38/hg38 9q22.1-32(chr9:88522292-113687796)x3	LOC130002218, LOC130002219 +994 more	Copy number gain	See cases	GPathogenic
Select item 161058	GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1	LOC126860732, LOC126860733 +514 more	Copy number loss	See cases	GPathogenic
Select item 32222	GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1	ABCA1, ABITRAM +514 more	Copy number loss	See cases	GPathogenic
Select item 59123	GRCh38/hg38 9q22.33-33.1(chr9:99349916-115767475)x1	CT70, CTNNAL1 +509 more	Copy number loss	See cases	GPathogenic
Select item 152171	GRCh38/hg38 9q31.2-33.1(chr9:107530314-117965944)x1	PALM2AKAP2, PAPPA +377 more	Copy number loss	See cases	GPathogenic
Select item 157152	NM_139286.3(CDC26):c.369_91225dup	FKBP15, LOC130002411 +4 more	Duplication	Normal pregnancy	Gnot provided
Select item 2280548	NM_001859.4(SLC31A1):c.25A>G (p.Met9Val)	SLC31A1 (M9V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319531	NM_001859.4(SLC31A1):c.56A>C (p.Gln19Pro)	SLC31A1 (Q19P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 713723	NM_001859.4(SLC31A1):c.73C>G (p.Pro25Ala)	SLC31A1 (P25A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3164275	NM_001859.4(SLC31A1):c.76A>G (p.Thr26Ala)	SLC31A1 (T26A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3164273	NM_001859.4(SLC31A1):c.106G>A (p.Gly36Arg)	SLC31A1 (G36R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392944	NM_001859.4(SLC31A1):c.133A>G (p.Met45Val)	SLC31A1 (M45V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472006	NM_001859.4(SLC31A1):c.166C>A (p.Leu56Ile)	SLC31A1 (L56I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290759	NM_001859.4(SLC31A1):c.191A>G (p.Asn64Ser)	SLC31A1 (N64S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1722767	NM_001859.4(SLC31A1):c.236T>C (p.Leu79Pro)	SLC31A1 (L79P)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2320235	NM_001859.4(SLC31A1):c.275G>T (p.Ser92Ile)	SLC31A1 (S92I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2446405	NM_001859.4(SLC31A1):c.284G>A (p.Arg95His)	SLC31A1 (R95H)	Single nucleotide variant (missense variant)	Neurodegeneration and seizures due to copper transport defect	GPathogenic
Select item 2359716	NM_001859.4(SLC31A1):c.308A>G (p.Tyr103Cys)	SLC31A1 (Y103C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164274	NM_001859.4(SLC31A1):c.365C>G (p.Thr122Ser)	SLC31A1 (T122S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466853	NM_001859.4(SLC31A1):c.505G>A (p.Gly169Ser)	SLC31A1 (G169S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 716923	NM_001859.4(SLC31A1):c.525C>T (p.Phe175=)	SLC31A1	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ADAMTSL1, CEP78 +596 more	Copy number gain	See cases	GPathogenic
Select item 1703688	GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311)	ATOSB, ATP6V1G1 +417 more	Copy number loss	Distal tetrasomy 15q	GUncertain significance
Select item 1527544	GRCh37/hg19 9q32(chr9:115883313-116179965)	ALAD, BSPRY +10 more	Copy number gain	not specified	GUncertain significance
Select item 1527542	GRCh37/hg19 9q31.2-32(chr9:109265628-117650999)	ABITRAM, ACTL7A +61 more	Copy number loss	not specified	GLikely pathogenic
Select item 1527539	GRCh37/hg19 9q31.1-33.3(chr9:104604851-126253089)	ABCA1, ABITRAM +130 more	Copy number loss	not specified	GPathogenic
Select item 1527521	GRCh37/hg19 9q21.11-33.2(chr9:71349994-122603410)	ABCA1, ABHD17B +261 more	Copy number gain	not specified	GLikely pathogenic
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 686835	GRCh37/hg19 9q31.3-32(chr9:113982711-117443628)x1	AKNA, ALAD +39 more	Copy number loss	not provided	GUncertain significance
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 442115	GRCh37/hg19 9q31.3-33.2(chr9:114299780-123267736)x1	AKNA, ALAD +48 more	Copy number loss	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 395116	GRCh37/hg19 9q32(chr9:115917306-115985451)x3	FKBP15, SLC31A1 +1 more	Copy number gain	See cases	GLikely benign
Select item 394605	GRCh37/hg19 9q31.3-33.1(chr9:111348809-118687200)x1	ABITRAM, ACTL7A +61 more	Copy number loss	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: 48