"GeneDx"[submitter] AND "LOC129932885"[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 296536	NM_000254.3(MTR):c.-321C>G	LOC129932885, MTR	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GLikely benign
Select item 296538	NM_000254.3(MTR):c.-201C>G	LOC129932885, MTR	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 296541	NM_000254.3(MTR):c.-151C>T	LOC129932885, MTR	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 296543	NM_000254.3(MTR):c.-111C>T	LOC129932885, MTR	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign/Likely benign

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