"GeneDx"[submitter] AND "LOC130009268"[gene] - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59821	GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3	LOC130009192, LOC130009193 +892 more	Copy number gain	See cases	GPathogenic
Select item 59847	GRCh38/hg38 12q24.32-24.33(chr12:126403612-133166920)x3	ADGRD1, ADGRD1-AS1 +266 more	Copy number gain	See cases	GPathogenic
Select item 1247186	NC_000012.12:g.132710735G>T	LOC130009268, PGAM5	Single nucleotide variant	not provided	GBenign
Select item 1290417	NC_000012.12:g.132710832T>C	LOC130009268, PGAM5	Single nucleotide variant	not provided	GBenign
Select item 1285675	NM_001170543.2(PGAM5):c.-4C>T	LOC130009268, PGAM5	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign

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