"Revvity Omics, Revvity"[submitter] AND "LOC126860549"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1324972	NM_078480.3(PUF60):c.24+1G>T	LOC126860549, PUF60	Single nucleotide variant (splice donor variant)	8q24.3 microdeletion syndrome	GLikely pathogenic
Select item 2435305	NM_078480.3(PUF60):c.11C>G (p.Ala4Gly)	LOC126860549, PUF60 (A4G)	Single nucleotide variant (missense variant)	8q24.3 microdeletion syndrome +1 more	GConflicting classifications of pathogenicity