"PreventionGenetics, part of Exact Sciences"[submitter] AND "TFAP2A"[g - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3041083	NM_001372066.1(TFAP2A):c.1302G>A (p.Glu434=)	TFAP2A	Single nucleotide variant (synonymous variant)	TFAP2A-related disorder	GLikely benign
Select item 258982	NM_001372066.1(TFAP2A):c.1263C>T (p.Asn421=)	TFAP2A	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 3045131	NM_001372066.1(TFAP2A):c.1209T>G (p.Tyr403Ter)	TFAP2A (Y395* +2 more)	Single nucleotide variant (nonsense)	TFAP2A-related disorder	GUncertain significance
Select item 2633844	NM_001372066.1(TFAP2A):c.812T>G (p.Leu271Arg)	TFAP2A (L263R +2 more)	Single nucleotide variant (missense variant)	TFAP2A-related disorder	GUncertain significance
Select item 2914545	NM_001372066.1(TFAP2A):c.717G>A (p.Arg239=)	LOC121740638, TFAP2A +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	TFAP2A-related disorder +1 more	GLikely benign
Select item 1698731	NM_001372066.1(TFAP2A):c.687C>G (p.Tyr229Ter)	TFAP2A, TFAP2A-AS2 +1 more (Y221* +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Branchiooculofacial syndrome +1 more	GLikely pathogenic
Select item 1695147	NM_001372066.1(TFAP2A):c.681G>A (p.Ser227=)	LOC121740638, TFAP2A +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GLikely benign
Select item 2630605	NM_001372066.1(TFAP2A):c.656G>C (p.Arg219Pro)	LOC121740638, TFAP2A +1 more (R211P +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	TFAP2A-related disorder	GUncertain significance
Select item 521272	NM_001372066.1(TFAP2A):c.656G>T (p.Arg219Leu)	LOC121740638, TFAP2A +1 more (R211L +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	TFAP2A-related disorder +1 more	GConflicting classifications of pathogenicity
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 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 2636042	NM_001372066.1(TFAP2A):c.430T>C (p.Ser144Pro)	TFAP2A (S136P +2 more)	Single nucleotide variant (missense variant)	TFAP2A-related disorder	GUncertain significance
Select item 736915	NM_001372066.1(TFAP2A):c.346C>T (p.Leu116=)	TFAP2A	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 3029339	NM_001372066.1(TFAP2A):c.51+8C>A	TFAP2A, TFAP2A-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	TFAP2A-related disorder	GLikely benign
Select item 745033	NM_001372066.1(TFAP2A):c.51+8C>T	TFAP2A, TFAP2A-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	TFAP2A-related disorder +1 more	GBenign/Likely benign
Select item 3032632	NM_001042425.3(TFAP2A):c.33+10del	TFAP2A	Deletion (intron variant)	TFAP2A-related disorder	GLikely benign
Select item 2656220	NM_001042425.3(TFAP2A):c.-4C>T	TFAP2A	Single nucleotide variant (5 prime UTR variant)	TFAP2A-related disorder +1 more	GBenign/Likely benign