"GeneDx"[submitter] AND "LOC129932888"[gene] - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	LOC120908923, LOC120947224 +1352 more	Copy number gain	See cases	GPathogenic
Select item 60117	GRCh38/hg38 1q43-44(chr1:237906379-244022201)x1	AKT3, AKT3-IT1 +55 more	Copy number loss	See cases	GPathogenic
Select item 57849	GRCh38/hg38 1q43(chr1:241358731-241676967)x3	CHML, FH +5 more	Copy number gain	See cases	GUncertain significance
Select item 1205116	NM_000143.4(FH):c.132+201C>G	FH, LOC129932888	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1191946	NM_000143.4(FH):c.132+178G>A	FH, LOC129932888	Single nucleotide variant (intron variant)	not provided	GLikely benign

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