"Illumina Laboratory Services, Illumina"[submitter] AND "HEXA-AS1"[gen - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 317052	NM_000520.5(HEXA):c.-141G>A	HEXA, HEXA-AS1	Single nucleotide variant (non-coding transcript variant)	Tay-Sachs disease	GUncertain significance
Select item 317053	NM_000520.5(HEXA):c.-167G>A	HEXA, HEXA-AS1	Single nucleotide variant (non-coding transcript variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 317054	NM_000520.5(HEXA):c.-181T>C	HEXA, HEXA-AS1	Single nucleotide variant (non-coding transcript variant)	Tay-Sachs disease	GUncertain significance
Select item 317055	NM_000520.5(HEXA):c.-207A>G	HEXA, HEXA-AS1	Single nucleotide variant (non-coding transcript variant)	Tay-Sachs disease	GUncertain significance

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