PDC[gene] - ClinVar

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Items: 36

	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	LOC129932075, LOC129932076 +560 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	ANGPTL1, APOBEC4 +455 more	Copy number loss	See cases	GPathogenic
Select item 60076	GRCh38/hg38 1q25.2-32.1(chr1:179032905-199724897)x1	LOC129388668, LOC129388669 +477 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 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 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	IGFN1, IKBKE +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	CA14, CACNA1E +956 more	Duplication	Gastrointestinal stromal tumor +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	CAPN9, CATSPERE +433 more	Copy number gain	not provided	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +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

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Items: 36