LOC130004559[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57116	GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3	LOC130004500, LOC130004501 +821 more	Copy number gain	See cases	GPathogenic
Select item 59707	GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3	EDRF1-AS1, EDRF1-DT +1036 more	Copy number gain	See cases	GPathogenic
Select item 148679	GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3	GSTO1, GSTO2 +1097 more	Copy number gain	See cases	GPathogenic
Select item 59708	GRCh38/hg38 10q24.31-24.32(chr10:101120347-101831908)x3	BTRC, DPCD +42 more	Copy number gain	See cases	GPathogenic
Select item 155194	GRCh38/hg38 10q24.31-24.32(chr10:101177305-101719109)x3	BTRC, DPCD +28 more	Copy number gain	See cases	GPathogenic
Select item 148343	GRCh38/hg38 10q24.32(chr10:101209582-101748381)x3	BTRC, DPCD +27 more	Copy number gain	See cases	GPathogenic
Select item 59725	GRCh38/hg38 10q24.32(chr10:101297763-101618190)x3	BTRC, DPCD +13 more	Copy number gain	See cases	GPathogenic
Select item 58778	GRCh38/hg38 10q24.32(chr10:101416272-101689575)x1	BTRC, DPCD +11 more	Copy number loss	See cases	GPathogenic
Select item 146868	GRCh38/hg38 10q24.32(chr10:101434986-101689541)x3	BTRC, DPCD +11 more	Copy number gain	See cases	GUncertain significance
Select item 148029	GRCh38/hg38 10q24.32(chr10:101492028-101682260)x3	BTRC, DPCD +11 more	Copy number gain	See cases	GUncertain significance
Select item 154981	GRCh38/hg38 10q24.32(chr10:101510559-101748381)x3	BTRC, DPCD +15 more	Copy number gain	See cases	GUncertain significance
Select item 91991	NM_015448.3(DPCD):c.11C>T (p.Thr4Met)	LOC130004559, DPCD (T4M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2234084	NM_015448.3(DPCD):c.53T>C (p.Leu18Pro)	DPCD, LOC130004559 (L18P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2460418	NM_015448.3(DPCD):c.63C>A (p.Asp21Glu)	DPCD, LOC130004559 (D21E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance