"Ambry Genetics"[submitter] AND "LOC121740638"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 521830	NM_001372066.1(TFAP2A):c.769A>T (p.Arg257Trp)	LOC121740638, TFAP2A +1 more (R249W +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GPathogenic
Select item 522084	NM_001372066.1(TFAP2A):c.767G>A (p.Arg256Gln)	LOC121740638, TFAP2A +1 more (R248Q +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GLikely pathogenic
Select item 18466	NM_001372066.1(TFAP2A):c.716G>A (p.Arg239Gln)	LOC121740638, TFAP2A +1 more (R231Q +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 2619708	NM_001372066.1(TFAP2A):c.689A>G (p.Lys230Arg)	LOC121740638, TFAP2A +1 more (K224R +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 521272	NM_001372066.1(TFAP2A):c.656G>T (p.Arg219Leu)	TFAP2A-AS2, LOC121740638 +1 more (R211L +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	TFAP2A-related condition +1 more	GConflicting classifications of pathogenicity
Select item 2281958	NM_001372066.1(TFAP2A):c.594C>A (p.Asn198Lys)	LOC121740638, TFAP2A +1 more (N190K +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2221787	NM_001372066.1(TFAP2A):c.586C>T (p.Pro196Ser)	LOC121740638, TFAP2A +1 more (P196S +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2286313	NM_001372066.1(TFAP2A):c.566G>A (p.Ser189Asn)	LOC121740638, TFAP2A +1 more (S181N +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance