"GeneDx"[submitter] AND "LOC130002128"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59881	GRCh38/hg38 9q22.1-32(chr9:88522292-113687796)x3	LOC130002218, LOC130002219 +994 more	Copy number gain	See cases	GPathogenic
Select item 59118	GRCh38/hg38 9q22.31-22.33(chr9:91596533-97018746)x1	AOPEP, ASPN +268 more	Copy number loss	See cases	GPathogenic
Select item 59902	GRCh38/hg38 9q22.31-22.33(chr9:92561720-98122580)x3	LOC132089736, LOC132089737 +313 more	Copy number gain	See cases	GPathogenic
Select item 145977	GRCh38/hg38 9q22.32-22.33(chr9:94713892-98121186)x1	ANP32B, AOPEP +197 more	Copy number loss	See cases	GPathogenic
Select item 59120	GRCh38/hg38 9q22.32(chr9:95046229-96111163)x1	AOPEP, ERCC6L2 +52 more	Copy number loss	See cases	GPathogenic
Select item 144971	GRCh38/hg38 9q22.32-31.3(chr9:95061030-108695569)x1	LOC130002205, LOC130002206 +417 more	Copy number loss	See cases	GPathogenic
Select item 679762	NM_000136.3(FANCC):c.-79+206_-79+219del	FANCC, LOC130002128	Deletion (intron variant)	not provided	GBenign
Select item 1221488	NM_000136.3(FANCC):c.-79+216_-79+217insGGCGGG	FANCC, LOC130002128	Insertion (intron variant)	not provided	GBenign
Select item 1254083	NM_000136.3(FANCC):c.-79+216A>G	FANCC, LOC130002128	Single nucleotide variant (intron variant)	not provided	GBenign

ClinVar