"Illumina Laboratory Services, Illumina"[submitter] AND "LOC129994569" - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 904881	NM_003060.4(SLC22A5):c.-234C>G	LOC129994569, MIR3936HG +1 more	Single nucleotide variant (5 prime UTR variant)	Renal carnitine transport defect	GBenign
Select item 906482	NM_003060.4(SLC22A5):c.-231G>C	LOC129994569, MIR3936HG +1 more	Single nucleotide variant (5 prime UTR variant)	Renal carnitine transport defect	GUncertain significance
Select item 350806	NM_003060.4(SLC22A5):c.-207C>G	LOC129994569, MIR3936HG +1 more	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 906483	NM_003060.4(SLC22A5):c.-206A>C	LOC129994569, MIR3936HG +1 more	Single nucleotide variant (5 prime UTR variant)	Renal carnitine transport defect	GUncertain significance
Select item 25340	NM_003060.4(SLC22A5):c.-149G>A	LOC129994569, MIR3936HG +1 more	Single nucleotide variant (5 prime UTR variant)	SLC22A5-related condition +2 more	GConflicting classifications of pathogenicity
Select item 350807	NM_003060.4(SLC22A5):c.-139G>T	LOC129994569, MIR3936HG +1 more	Single nucleotide variant (5 prime UTR variant)	Renal carnitine transport defect	GBenign
Select item 350808	NM_003060.4(SLC22A5):c.-118G>A	LOC129994569, MIR3936HG +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GLikely benign
Select item 350809	NM_003060.4(SLC22A5):c.-107G>T	LOC129994569, MIR3936HG +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Renal carnitine transport defect	GBenign
Select item 25342	NM_003060.4(SLC22A5):c.-78C>T	LOC129994569, MIR3936HG +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +2 more	GBenign
Select item 25343	NM_003060.4(SLC22A5):c.-77G>A	LOC129994569, MIR3936HG +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +2 more	GBenign