"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "LOC1299 - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 584076	NC_000002.11:g.(?_86067247)_(86116048_?)dup	LOC129934229, LOC129934230 +7 more	Duplication	GM3 synthase deficiency	GUncertain significance
Select item 2914016	NM_003896.4(ST3GAL5):c.207-5del	LOC129934233, ST3GAL5	Deletion (intron variant)	GM3 synthase deficiency	GBenign
Select item 1142552	NM_003896.4(ST3GAL5):c.207-5T>C	LOC129934233, ST3GAL5	Single nucleotide variant (intron variant)	GM3 synthase deficiency	GLikely benign
Select item 764026	NM_003896.4(ST3GAL5):c.207-7T>G	LOC129934233, ST3GAL5	Single nucleotide variant (intron variant)	GM3 synthase deficiency	GLikely benign
Select item 2838130	NM_003896.4(ST3GAL5):c.207-11T>A	LOC129934233, ST3GAL5	Single nucleotide variant (intron variant)	GM3 synthase deficiency	GLikely benign
Select item 2837826	NM_003896.4(ST3GAL5):c.207-11T>C	LOC129934233, ST3GAL5	Single nucleotide variant (intron variant)	GM3 synthase deficiency	GLikely benign

ClinVar