"Revvity Omics, Revvity"[submitter] AND "LOC121740638"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 17937	NM_001372066.1(TFAP2A):c.769A>G (p.Arg257Gly)	LOC121740638, TFAP2A-AS2 +1 more (R251G +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2437050	NM_001372066.1(TFAP2A):c.754G>T (p.Gly252Cys)	LOC121740638, TFAP2A +1 more (G244C +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Branchiooculofacial syndrome	GUncertain significance