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

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 751716	NM_001372066.1(TFAP2A):c.1215C>T (p.Thr405=)	TFAP2A	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 713466	NM_001372066.1(TFAP2A):c.924C>T (p.Tyr308=)	TFAP2A	Single nucleotide variant (synonymous variant)	Branchiooculofacial syndrome +1 more	GBenign/Likely benign
Select item 1346757	NM_001372066.1(TFAP2A):c.860A>G (p.Asn287Ser)	TFAP2A (N279S +2 more)	Single nucleotide variant (missense variant)	Branchiooculofacial syndrome +1 more	GUncertain significance
Select item 586813	NM_001372066.1(TFAP2A):c.826T>C (p.Leu276=)	TFAP2A	Single nucleotide variant (synonymous variant)	Branchiooculofacial syndrome +1 more	GBenign/Likely benign
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)	not provided +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)	not provided +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=)	TFAP2A-AS2, LOC121740638 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1631143	NM_001372066.1(TFAP2A):c.539-19C>T	LOC121740638, TFAP2A +1 more	Single nucleotide variant (intron variant +1 more)	not provided +1 more	GLikely benign
Select item 1399686	NM_001372066.1(TFAP2A):c.474C>G (p.Ile158Met)	TFAP2A (I158M +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 774641	NM_001372066.1(TFAP2A):c.426C>T (p.Leu142=)	TFAP2A	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 391707	NM_001372066.1(TFAP2A):c.257C>T (p.Pro86Leu)	TFAP2A (P78L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1645847	NM_001372066.1(TFAP2A):c.141G>A (p.Leu47=)	TFAP2A	Single nucleotide variant (synonymous variant)	Branchiooculofacial syndrome +1 more	GBenign/Likely benign
Select item 1392071	NM_001372066.1(TFAP2A):c.103A>G (p.Thr35Ala)	TFAP2A (T35A +2 more)	Single nucleotide variant (missense variant)	Branchiooculofacial syndrome +1 more	GUncertain significance
Select item 1638742	NM_001372066.1(TFAP2A):c.51+20G>T	TFAP2A, TFAP2A-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GLikely benign