ClinVar for Gene (Select 102724919) - ClinVar - NCBI

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Links from Gene

Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2371074	NM_002597.5(PDC):c.724G>C (p.Glu242Gln)	PDC, PDC-AS1 (E190Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2296430	NM_002597.5(PDC):c.640G>C (p.Ala214Pro)	PDC-AS1, PDC (A214P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2267428	NM_002597.5(PDC):c.215T>C (p.Met72Thr)	PDC-AS1, PDC (M20T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2253941	NM_002597.5(PDC):c.542T>C (p.Phe181Ser)	PDC-AS1, PDC (F129S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2218018	NM_002597.5(PDC):c.539G>A (p.Arg180His)	PDC-AS1, PDC (R180H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 155621	GRCh38/hg38 1q24.2-31.1(chr1:170036068-187555148)x1	LOC122149328, LOC122149329 +540 more	Copy number loss	See cases	GPathogenic
Select item 154645	GRCh38/hg38 1q31.1(chr1:185977899-187712734)x3	HMCN1, LINC01036 +32 more	Copy number gain	See cases	GUncertain significance
Select item 154301	GRCh38/hg38 1q24.3-31.2(chr1:170929720-191065409)x1	IER5, IVNS1ABP +560 more	Copy number loss	See cases	GPathogenic
Select item 152833	GRCh38/hg38 1q31.1(chr1:186356477-186580632)x3	LOC129932122, LOC129932123 +7 more	Copy number gain	See cases	GUncertain significance
Select item 149055	GRCh38/hg38 1q31.1(chr1:185959703-187743891)x3	HMCN1, LINC01036 +32 more	Copy number gain	See cases	GUncertain significance
Select item 145519	GRCh38/hg38 1q24.3-31.1(chr1:171039975-186875957)x3	ACBD6, ANGPTL1 +513 more	Copy number gain	See cases	GPathogenic
Select item 144717	GRCh38/hg38 1q25.2-31.3(chr1:176595962-196301688)x1	LOC126805952, LOC126805953 +455 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 60077	GRCh38/hg38 1q25.3-31.1(chr1:182137726-186931125)x1	APOBEC4, ARPC5 +160 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