"GeneDx"[submitter] AND "LOC129997861"[gene] - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59675	GRCh38/hg38 7p22.3-22.1(chr7:45130-6270185)x3	BRAT1, ACTB +381 more	Copy number gain	See cases	GPathogenic
Select item 58492	GRCh38/hg38 7p22.3-22.1(chr7:45130-5880375)x1	ACTB, ADAP1 +357 more	Copy number loss	See cases	GPathogenic
Select item 360304	NM_014855.3(AP5Z1):c.-3G>A	AP5Z1, LOC129997861	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary spastic paraplegia 48 +2 more	GBenign/Likely benign
Select item 585436	NM_014855.3(AP5Z1):c.-1G>C	AP5Z1, LOC129997861	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GLikely benign

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