"Fulgent Genetics, Fulgent Genetics"[submitter] AND "TFAP2A-AS2"[gene] - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 737061	NM_001372066.1(TFAP2A):c.747G>A (p.Ser249=)	LOC121740638, TFAP2A +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Branchiooculofacial syndrome +1 more	GLikely benign
Select item 755468	NM_001372066.1(TFAP2A):c.714G>A (p.Arg238=)	LOC121740638, TFAP2A +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Branchiooculofacial syndrome +1 more	GLikely benign
Select item 1595534	NM_001372066.1(TFAP2A):c.660C>T (p.Leu220=)	LOC121740638, TFAP2A +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GLikely benign
Select item 715876	NM_001372066.1(TFAP2A):c.579C>T (p.Ser193=)	LOC121740638, TFAP2A +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 1631143	NM_001372066.1(TFAP2A):c.539-19C>T	LOC121740638, TFAP2A +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GLikely benign

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