ClinVar for Gene (Select 1317) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3164275	NM_001859.4(SLC31A1):c.76A>G (p.Thr26Ala)	SLC31A1 (T26A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 3164273	NM_001859.4(SLC31A1):c.106G>A (p.Gly36Arg)	SLC31A1 (G36R)	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 2472006	NM_001859.4(SLC31A1):c.166C>A (p.Leu56Ile)	SLC31A1 (L56I)	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 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 2392944	NM_001859.4(SLC31A1):c.133A>G (p.Met45Val)	SLC31A1 (M45V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2320235	NM_001859.4(SLC31A1):c.275G>T (p.Ser92Ile)	SLC31A1 (S92I)	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 2280548	NM_001859.4(SLC31A1):c.25A>G (p.Met9Val)	SLC31A1 (M9V)	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 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 716923	NM_001859.4(SLC31A1):c.525C>T (p.Phe175=)	SLC31A1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 713723	NM_001859.4(SLC31A1):c.73C>G (p.Pro25Ala)	SLC31A1 (P25A)	Single nucleotide variant (missense variant)	not provided	GBenign
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
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 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 157152	NM_139286.3(CDC26):c.369_91225dup	FKBP15, LOC130002411 +4 more	Duplication	Normal pregnancy	Gnot provided
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 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	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 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 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +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 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	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 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 48