"GeneDx"[submitter] AND "LOC130064983"[gene] - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	LOC130064925, LOC130064926 +1081 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064903, LOC130064904 +1093 more	Copy number gain	See cases	GPathogenic
Select item 1200783	NC_000019.10:g.50384125G>A	LOC130064983, POLD1	Single nucleotide variant	not provided	GLikely benign
Select item 1190137	NC_000019.10:g.50384211C>G	LOC130064983, POLD1	Single nucleotide variant	not provided	GLikely benign
Select item 1292475	NC_000019.10:g.50384216G>A	LOC130064983, POLD1	Single nucleotide variant	not provided	GBenign

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