PDCL[gene] - ClinVar

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

Search results

Items: 45

	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 57353	GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3	LOC130003132, LOC130003133 +1210 more	Copy number gain	See cases	GPathogenic
Select item 2457641	NM_005388.5(PDCL):c.871T>C (p.Cys291Arg)	PDCL (C291R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212143	NM_005388.5(PDCL):c.869C>T (p.Thr290Met)	PDCL (T290M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532799	NM_005388.5(PDCL):c.676A>T (p.Ser226Cys)	PDCL (S226C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210601	NM_005388.5(PDCL):c.661G>A (p.Val221Ile)	PDCL (V221I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262110	NM_005388.5(PDCL):c.634G>A (p.Val212Ile)	PDCL (V212I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352764	NM_005388.5(PDCL):c.619G>A (p.Ala207Thr)	PDCL (A207T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492758	NM_005388.5(PDCL):c.460A>G (p.Lys154Glu)	PDCL (K154E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332011	NM_005388.5(PDCL):c.376A>G (p.Ile126Val)	PDCL (I126V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210600	NM_005388.5(PDCL):c.370T>A (p.Phe124Ile)	PDCL (F124I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559826	NM_005388.5(PDCL):c.301G>A (p.Glu101Lys)	PDCL (E101K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305330	NM_005388.5(PDCL):c.277A>G (p.Met93Val)	PDCL (M93V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321294	NM_005388.5(PDCL):c.274T>C (p.Ser92Pro)	PDCL (S92P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305329	NM_005388.5(PDCL):c.225G>T (p.Glu75Asp)	PDCL (E75D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785296	NM_005388.5(PDCL):c.126G>T (p.Val42=)	PDCL	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 815294	GRCh37/hg19 9q33.2(chr9:125105375-125616987)x3	OR1B1, OR1J1 +15 more	Copy number gain	not provided	GUncertain significance
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 688958	GRCh37/hg19 9q33.2-33.3(chr9:125349988-126462569)x1	CRB2, DENND1A +15 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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 45