PDC[gene] - ClinVar

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

Search results

Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155621	GRCh38/hg38 1q24.2-31.1(chr1:170036068-187555148)x1	MYOC, MYOCOS +540 more	Copy number loss	See cases	GPathogenic
Select item 154301	GRCh38/hg38 1q24.3-31.2(chr1:170929720-191065409)x1	LOC129932082, LOC129932083 +561 more	Copy number loss	See cases	GPathogenic
Select item 145519	GRCh38/hg38 1q24.3-31.1(chr1:171039975-186875957)x3	ABL2, ACBD6 +513 more	Copy number gain	See cases	GPathogenic
Select item 144717	GRCh38/hg38 1q25.2-31.3(chr1:176595962-196301688)x1	MIR488, MR1 +456 more	Copy number loss	See cases	GPathogenic
Select item 60076	GRCh38/hg38 1q25.2-32.1(chr1:179032905-199724897)x1	LOC129932021, LOC129932022 +478 more	Copy number loss	See cases	GPathogenic
Select item 60077	GRCh38/hg38 1q25.3-31.1(chr1:182137726-186931125)x1	APOBEC4, ARPC5 +160 more	Copy number loss	See cases	GPathogenic
Select item 144456	GRCh38/hg38 1q25.3-31.1(chr1:184888428-186622330)x1	GS1-204I12.4, HMCN1 +44 more	Copy number loss	See cases	GPathogenic
Select item 149055	GRCh38/hg38 1q31.1(chr1:185959703-187743891)x3	PLA2G4A, PRG4 +32 more	Copy number gain	See cases	GUncertain significance
Select item 154645	GRCh38/hg38 1q31.1(chr1:185977899-187712734)x3	HMCN1, LINC01036 +32 more	Copy number gain	See cases	GUncertain significance
Select item 152833	GRCh38/hg38 1q31.1(chr1:186356477-186580632)x3	LOC129932122, LOC129932123 +7 more	Copy number gain	See cases	GUncertain significance
Select item 2371074	NM_002597.5(PDC):c.724G>C (p.Glu242Gln)	PDC, PDC-AS1 (E190Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305291	NM_002597.5(PDC):c.671A>G (p.Tyr224Cys)	PDC, PDC-AS1 (Y172C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296430	NM_002597.5(PDC):c.640G>C (p.Ala214Pro)	PDC, PDC-AS1 (A214P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253941	NM_002597.5(PDC):c.542T>C (p.Phe181Ser)	PDC, PDC-AS1 (F129S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218018	NM_002597.5(PDC):c.539G>A (p.Arg180His)	PDC, PDC-AS1 (R180H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210521	NM_002597.5(PDC):c.428A>C (p.Asp143Ala)	PDC, PDC-AS1 (D143A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210520	NM_002597.5(PDC):c.408T>G (p.Ile136Met)	PDC, PDC-AS1 (I136M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 712921	NM_002597.5(PDC):c.258T>C (p.Asp86=)	PDC, PDC-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2267428	NM_002597.5(PDC):c.215T>C (p.Met72Thr)	PDC, PDC-AS1 (M20T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305292	NM_002597.5(PDC):c.107G>A (p.Ser36Asn)	PDC, PDC-AS1 (S36N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063521	GRCh37/hg19 1q24.2-31.1(chr1:167994071-187711459)x1	ABL2, ACBD6 +123 more	Copy number loss	not specified	GPathogenic
Select item 2426819	NC_000001.10:g.(?_185703912)_(186957640_?)dup	HMCN1, OCLM +6 more	Duplication	not provided	GUncertain significance
Select item 1809264	GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3	ASPM, IPO9 +211 more	Copy number gain	not provided	GPathogenic
Select item 1808632	GRCh37/hg19 1q25.2-31.2(chr1:179727182-192260142)x1	ACBD6, APOBEC4 +48 more	Copy number loss	not provided	GPathogenic
Select item 1808555	GRCh37/hg19 1q31.1(chr1:186137950-187028283)x3	HMCN1, OCLM +6 more	Copy number gain	not provided	GUncertain significance
Select item 1527448	GRCh37/hg19 1q25.2-32.1(chr1:179413479-201764737)	ACBD6, APOBEC4 +98 more	Copy number loss	not specified	GPathogenic
Select item 1527437	GRCh37/hg19 1q25.2-32.1(chr1:179073386-200192265)	ABL2, ACBD6 +82 more	Copy number loss	not specified	GPathogenic
Select item 1527404	GRCh37/hg19 1q24.3-31.3(chr1:171990029-195086758)	BRINP2, BRINP3 +101 more	Copy number loss	not specified	GPathogenic
Select item 1341276	GRCh37/hg19 1q25.2-31.1(chr1:178522021-190322133)x1	ABL2, ACBD6 +56 more	Copy number loss	not provided	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 814145	GRCh37/hg19 1q25.2-32.1(chr1:177551193-199599056)x1	ABL2, ACBD6 +88 more	Copy number loss	not provided	GPathogenic
Select item 687593	GRCh37/hg19 1q31.1(chr1:186318114-186573823)x3	OCLM, ODR4 +2 more	Copy number gain	not provided	GUncertain significance
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	C4BPB, CACNA1S +433 more	Copy number gain	not provided	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442042	GRCh37/hg19 1q25.2-32.1(chr1:179011314-199022759)x1	DENND1B, DHX9 +83 more	Copy number loss	See cases	GPathogenic
Select item 395006	GRCh37/hg19 1q31.1(chr1:186328876-186430216)x3	OCLM, ODR4 +2 more	Copy number gain	See cases	GUncertain significance
Select item 253546	GRCh37/hg19 1q25.3-31.2(chr1:181572003-191524283)x1	COLGALT2, LAMC1 +35 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

Search results

Items: 38