"Illumina Laboratory Services, Illumina"[submitter] AND "LOC129998796" - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 360933	NM_000466.3(PEX1):c.-19A>G	LOC129998796, PEX1	Single nucleotide variant (5 prime UTR variant)	Peroxisome biogenesis disorder 1A (Zellweger)	GUncertain significance
Select item 360934	NM_000466.3(PEX1):c.-43T>G	LOC129998796, PEX1	Single nucleotide variant (5 prime UTR variant)	Peroxisome biogenesis disorder 1B +2 more	GUncertain significance
Select item 360935	NM_000466.3(PEX1):c.-45T>C	LOC129998796, PEX1	Single nucleotide variant (5 prime UTR variant)	Peroxisome biogenesis disorder 1A (Zellweger)	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 360936	NM_000466.3(PEX1):c.-74A>G	LOC129998796, PEX1	Single nucleotide variant (5 prime UTR variant)	Peroxisome biogenesis disorder 1A (Zellweger)	GUncertain significance
Select item 910470	NM_000466.3(PEX1):c.-77C>G	LOC129998796, PEX1	Single nucleotide variant (5 prime UTR variant)	Peroxisome biogenesis disorder 1A (Zellweger)	GUncertain significance
Select item 910471	NM_000466.3(PEX1):c.-82C>G	LOC129998796, PEX1	Single nucleotide variant (5 prime UTR variant)	Peroxisome biogenesis disorder 1A (Zellweger)	GUncertain significance

ClinVar