"Counsyl"[submitter] AND "LOC132089454"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 370442	NM_012434.5(SLC17A5):c.349dup (p.Tyr117fs)	LOC132089454, SLC17A5 (Y117fs)	Duplication (frameshift variant)	Salla disease	GPathogenic/Likely pathogenic
Select item 557474	NM_012434.5(SLC17A5):c.292-1G>C	LOC132089454, SLC17A5	Single nucleotide variant (splice acceptor variant)	Salla disease	GLikely pathogenic
Select item 370491	NM_012434.5(SLC17A5):c.292-2A>C	LOC132089454, SLC17A5	Single nucleotide variant (splice acceptor variant)	Salla disease	GLikely pathogenic

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