"PreventionGenetics, part of Exact Sciences"[submitter] AND "LOC129998 - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2712179	NM_000466.3(PEX1):c.39C>T (p.Gly13=)	LOC129998796, PEX1	Single nucleotide variant (synonymous variant +1 more)	PEX1-related disorder +1 more	GLikely benign
Select item 2629439	NM_000466.3(PEX1):c.-2C>T	LOC129998796, PEX1	Single nucleotide variant (5 prime UTR variant)	PEX1-related disorder	GUncertain significance
Select item 256216	NM_000466.3(PEX1):c.-53C>G	LOC129998796, PEX1	Single nucleotide variant (5 prime UTR variant)	Peroxisome biogenesis disorder 1A (Zellweger) +3 more	GBenign/Likely benign
Select item 256215	NM_000466.3(PEX1):c.-137T>C	LOC129998796, PEX1 +1 more	Single nucleotide variant	not provided +3 more	GBenign/Likely benign

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