"Illumina Laboratory Services, Illumina"[submitter] AND "LOC129933127" - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 330897	NM_145693.3(LPIN1):c.-75T>G	LOC129933127, LPIN1	Single nucleotide variant (intron variant)	Acute Recurrent Myoglobinuria	GUncertain significance
Select item 330898	NM_145693.3(LPIN1):c.-69G>A	LOC129933127, LPIN1	Single nucleotide variant (intron variant)	Acute Recurrent Myoglobinuria	GUncertain significance
Select item 894057	NM_001349206.2(LPIN1):c.-35A>G	LOC129933127, LPIN1	Single nucleotide variant (5 prime UTR variant +2 more)	Myoglobinuria, acute recurrent, autosomal recessive	GUncertain significance
Select item 894058	NM_001349206.2(LPIN1):c.-26A>C	LOC129933127, LPIN1	Single nucleotide variant (5 prime UTR variant +2 more)	Myoglobinuria, acute recurrent, autosomal recessive	GUncertain significance
Select item 330899	NM_001349206.2(LPIN1):c.-26A>G	LOC129933127, LPIN1	Single nucleotide variant (5 prime UTR variant +2 more)	Myoglobinuria, acute recurrent, autosomal recessive	GUncertain significance
Select item 894059	NM_001349206.2(LPIN1):c.-15C>A	LOC129933127, LPIN1	Single nucleotide variant (5 prime UTR variant +2 more)	Myoglobinuria, acute recurrent, autosomal recessive	GUncertain significance
Select item 330900	NM_001349206.2(LPIN1):c.-11C>T	LOC129933127, LPIN1	Single nucleotide variant (5 prime UTR variant +2 more)	Myoglobinuria, acute recurrent, autosomal recessive	GUncertain significance

ClinVar