ClinVar for Gene (Select 7020) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3251209	NM_001372066.1(TFAP2A):c.241C>T (p.Pro81Ser)	TFAP2A (P73S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3246167	NC_000006.11:g.(?_10212581)_(10400010_?)del	TFAP2A	Deletion	not provided	GPathogenic
Select item 3068210	NM_001372066.1(TFAP2A):c.639C>G (p.Phe213Leu)	LOC121740638, TFAP2A +1 more (F205L +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Branchiooculofacial syndrome	GLikely pathogenic
Select item 3065573	NM_001372066.1(TFAP2A):c.1203G>C (p.Gln401His)	TFAP2A (Q393H +2 more)	Single nucleotide variant (missense variant)	Branchiooculofacial syndrome	GLikely benign
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 3041083	NM_001372066.1(TFAP2A):c.1302G>A (p.Glu434=)	TFAP2A	Single nucleotide variant (synonymous variant)	TFAP2A-related disorder	GLikely benign
Select item 3032632	NM_001042425.3(TFAP2A):c.33+10del	TFAP2A	Deletion (intron variant)	not provided +1 more	GLikely 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 3021480	NM_001372066.1(TFAP2A):c.918T>C (p.Phe306=)	TFAP2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3020843	NM_001372066.1(TFAP2A):c.297C>G (p.Pro99=)	TFAP2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2996479	NM_001372066.1(TFAP2A):c.539-4G>C	LOC121740638, TFAP2A +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2994554	NM_001372066.1(TFAP2A):c.81G>A (p.Thr27=)	TFAP2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2993240	NM_001372066.1(TFAP2A):c.770+12C>T	LOC121740638, TFAP2A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2967792	NM_001372066.1(TFAP2A):c.541C>T (p.Pro181Ser)	LOC121740638, TFAP2A +1 more (P173S +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2967588	NM_001372066.1(TFAP2A):c.486+17C>T	TFAP2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2966401	NM_001372066.1(TFAP2A):c.1053C>T (p.Thr351=)	TFAP2A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2962353	NM_001372066.1(TFAP2A):c.770+18C>A	LOC121740638, TFAP2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2959685	NM_001372066.1(TFAP2A):c.890-11C>T	TFAP2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2919724	NM_001372066.1(TFAP2A):c.1185C>T (p.Ala395=)	TFAP2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2902443	NM_001372066.1(TFAP2A):c.738C>T (p.Leu246=)	LOC121740638, TFAP2A +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2895217	NM_001372066.1(TFAP2A):c.930C>T (p.Cys310=)	TFAP2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2890753	NM_001372066.1(TFAP2A):c.65G>T (p.Gly22Val)	TFAP2A (G14V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2890442	NM_001372066.1(TFAP2A):c.30T>C (p.Asn10=)	TFAP2A, TFAP2A-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 2888637	NM_001372066.1(TFAP2A):c.342G>A (p.Arg114=)	TFAP2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2855290	NM_001372066.1(TFAP2A):c.776A>G (p.Lys259Arg)	TFAP2A (K253R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2848497	NM_001372066.1(TFAP2A):c.408G>T (p.Leu136=)	TFAP2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2844077	NM_001372066.1(TFAP2A):c.973C>T (p.Arg325Ter)	TFAP2A (R317* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2838489	NM_001372066.1(TFAP2A):c.800T>C (p.Leu267Ser)	TFAP2A (L261S +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2831341	NM_001372066.1(TFAP2A):c.1032-11T>C	TFAP2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2818437	NM_001372066.1(TFAP2A):c.727C>G (p.Pro243Ala)	LOC121740638, TFAP2A +1 more (P237A +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2801415	NM_001372066.1(TFAP2A):c.768G>A (p.Arg256=)	LOC121740638, TFAP2A +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2800806	NM_001372066.1(TFAP2A):c.606C>A (p.Leu202=)	LOC121740638, TFAP2A +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2799131	NM_001372066.1(TFAP2A):c.678C>G (p.Thr226=)	LOC121740638, TFAP2A +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2777011	NM_001372066.1(TFAP2A):c.984C>T (p.Ser328=)	TFAP2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2757042	NM_001372066.1(TFAP2A):c.554C>A (p.Ser185Tyr)	LOC121740638, TFAP2A +1 more (S185Y +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2738202	NM_001372066.1(TFAP2A):c.152C>T (p.Pro51Leu)	TFAP2A (P43L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2726127	NM_001372066.1(TFAP2A):c.295C>T (p.Pro99Ser)	TFAP2A (P93S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2715959	NM_001372066.1(TFAP2A):c.441A>C (p.Gly147=)	TFAP2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2711455	NM_001372066.1(TFAP2A):c.749T>C (p.Leu250Pro)	LOC121740638, TFAP2A +1 more (L242P +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2709310	NM_001372066.1(TFAP2A):c.296C>T (p.Pro99Leu)	TFAP2A (P91L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2703813	NM_001372066.1(TFAP2A):c.183C>T (p.Pro61=)	TFAP2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2697175	NM_001372066.1(TFAP2A):c.539-4G>A	LOC121740638, TFAP2A +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2696520	NM_001372066.1(TFAP2A):c.1273del (p.Asp425fs)	TFAP2A (D417fs +2 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2685194	GRCh37/hg19 6p24.3(chr6:10099993-10564232)x1	GCNT2, TFAP2A	Copy number loss	not provided	GPathogenic
Select item 2684439	GRCh37/hg19 6p25.3-22.3(chr6:156975-15478095)x3	ADTRP, BLOC1S5 +73 more	Copy number gain	not provided	GPathogenic
Select item 2682209	NM_001372066.1(TFAP2A):c.752T>G (p.Leu251Arg)	LOC121740638, TFAP2A +1 more (L243R +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2673044	NM_001372066.1(TFAP2A):c.1093C>A (p.Arg365=)	TFAP2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2662575	NM_001372066.1(TFAP2A):c.659T>C (p.Leu220Pro)	LOC121740638, TFAP2A +1 more (L212P +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 2656221	NM_001042425.2(TFAP2A):c.-309C>G	TFAP2A	Single nucleotide variant	not provided	GBenign
Select item 2656220	NM_001042425.3(TFAP2A):c.-4C>T	TFAP2A	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 2656219	NM_001372066.1(TFAP2A):c.432A>C (p.Ser144=)	TFAP2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 2627467	NM_001372066.1(TFAP2A):c.742G>A (p.Ala248Thr)	LOC121740638, TFAP2A +1 more (A240T +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Branchiooculofacial syndrome	GUncertain significance
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 2614435	NM_001372066.1(TFAP2A):c.771-2_771-1del	TFAP2A	Deletion (splice acceptor variant)	Inborn genetic diseases	GLikely pathogenic
Select item 2604984	NM_001372066.1(TFAP2A):c.1099A>T (p.Asn367Tyr)	TFAP2A (N359Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2582683	NM_001372066.1(TFAP2A):c.835_836del (p.Pro279fs)	TFAP2A, TFAP2A-AS2 (P271fs +2 more)	Deletion (frameshift variant)	Branchiooculofacial syndrome	GPathogenic
Select item 2572430	NM_001372066.1(TFAP2A):c.486+1G>T	TFAP2A	Single nucleotide variant (splice donor variant)	Branchiooculofacial syndrome	GLikely pathogenic
Select item 2557154	NM_001372066.1(TFAP2A):c.151C>G (p.Pro51Ala)	TFAP2A (P43A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2552962	NM_001372066.1(TFAP2A):c.259C>G (p.Leu87Val)	TFAP2A (L79V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2498019	NM_001372066.1(TFAP2A):c.409C>A (p.His137Asn)	TFAP2A (H129N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2486710	NM_001372066.1(TFAP2A):c.454C>T (p.His152Tyr)	TFAP2A (H144Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2467163	NM_001372066.1(TFAP2A):c.925G>A (p.Val309Met)	TFAP2A (V301M +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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
Select item 2437049	NM_001372066.1(TFAP2A):c.220C>A (p.Pro74Thr)	TFAP2A (P66T +2 more)	Single nucleotide variant (missense variant)	Branchiooculofacial syndrome	GUncertain significance
Select item 2429088	NM_001372066.1(TFAP2A):c.770+5G>A	LOC121740638, TFAP2A +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2424655	NC_000006.11:g.(?_10402705)_(10415218_?)dup	TFAP2A	Duplication	not provided	GUncertain significance
Select item 2413670	NM_001372066.1(TFAP2A):c.23C>T (p.Thr8Met)	TFAP2A, TFAP2A-AS1 (T8M)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 2382562	NM_001372066.1(TFAP2A):c.502G>C (p.Gly168Arg)	TFAP2A, TFAP2A-AS2 (G168R +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2299162	NM_001372066.1(TFAP2A):c.1156C>T (p.His386Tyr)	TFAP2A (H378Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 2286313	NM_001372066.1(TFAP2A):c.566G>A (p.Ser189Asn)	LOC121740638, TFAP2A +1 more (S181N +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
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 2268306	NM_001372066.1(TFAP2A):c.862G>A (p.Val288Ile)	TFAP2A (V288I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2258054	NM_001372066.1(TFAP2A):c.922T>C (p.Tyr308His)	TFAP2A (Y300H +2 more)	Single nucleotide variant (missense variant)	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 2221031	NM_001372066.1(TFAP2A):c.1099A>C (p.Asn367His)	TFAP2A (N367H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2195020	NM_001372066.1(TFAP2A):c.1185C>G (p.Ala395=)	TFAP2A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2191348	NM_001372066.1(TFAP2A):c.985G>A (p.Asp329Asn)	TFAP2A (D323N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2143533	NM_001372066.1(TFAP2A):c.691G>A (p.Val231Ile)	LOC121740638, TFAP2A +1 more (V223I +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2136366	NM_001372066.1(TFAP2A):c.743C>A (p.Ala248Glu)	LOC121740638, TFAP2A +1 more (A240E +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely pathogenic
Select item 2136141	NM_001372066.1(TFAP2A):c.1285A>G (p.Lys429Glu)	TFAP2A (K429E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2095335	NM_001372066.1(TFAP2A):c.700G>A (p.Ala234Thr)	LOC121740638, TFAP2A +1 more (A234T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2063370	NM_001372066.1(TFAP2A):c.889+4A>C	TFAP2A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1996184	NM_001372066.1(TFAP2A):c.680C>A (p.Ser227Ter)	LOC121740638, TFAP2A +1 more (S221* +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 1989028	NM_001372066.1(TFAP2A):c.487-20T>C	TFAP2A, TFAP2A-AS2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1981226	NM_001372066.1(TFAP2A):c.502G>A (p.Gly168Ser)	TFAP2A, TFAP2A-AS2 (G162S +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 1962018	NM_001372066.1(TFAP2A):c.729C>A (p.Pro243=)	LOC121740638, TFAP2A +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1956629	NM_001372066.1(TFAP2A):c.452T>A (p.Ile151Asn)	TFAP2A (I143N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1953952	NM_001372066.1(TFAP2A):c.770+13_770+17dup	TFAP2A, LOC121740638	Duplication (intron variant)	not provided	GLikely benign
Select item 1951106	NM_001372066.1(TFAP2A):c.890-17C>G	TFAP2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1939536	NM_001372066.1(TFAP2A):c.1188G>A (p.Ala396=)	TFAP2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1939417	NM_001372066.1(TFAP2A):c.771-17A>G	TFAP2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1932348	NM_001372066.1(TFAP2A):c.897T>C (p.Ala299=)	TFAP2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1923758	NM_001372066.1(TFAP2A):c.702G>A (p.Ala234=)	LOC121740638, TFAP2A +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1918881	NM_001372066.1(TFAP2A):c.116C>T (p.Ser39Phe)	TFAP2A (S31F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1909502	NM_001372066.1(TFAP2A):c.148A>C (p.Thr50Pro)	TFAP2A (T42P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1906690	NM_001372066.1(TFAP2A):c.1193C>T (p.Thr398Met)	TFAP2A (T390M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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