"Illumina Laboratory Services, Illumina"[submitter] AND "LOC130006551" - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 306318	NM_032273.3(TMEM126A):c.-142C>T	LOC130006551, TMEM126A	Single nucleotide variant	Optic Atrophy, Recessive	GUncertain significance
Select item 306319	NM_032273.3(TMEM126A):c.-139C>T	LOC130006551, TMEM126A	Single nucleotide variant	Optic Atrophy, Recessive	GUncertain significance
Select item 883047	NM_032273.4(TMEM126A):c.-98C>G	LOC130006551, TMEM126A	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive optic atrophy, OPA7 type	GUncertain significance
Select item 306320	NM_032273.4(TMEM126A):c.-69T>A	LOC130006551, TMEM126A	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive optic atrophy, OPA7 type +1 more	GBenign
Select item 215269	NM_032273.4(TMEM126A):c.-46_-45insACCG	LOC130006551, TMEM126A	Insertion (5 prime UTR variant)	not provided +1 more	GBenign
Select item 306322	NM_032273.4(TMEM126A):c.-16G>C	LOC130006551, TMEM126A	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive optic atrophy, OPA7 type	GUncertain significance

ClinVar