TFAP2A[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58124	GRCh38/hg38 6p25.3-22.3(chr6:106431-18360595)x3	ADTRP, ATXN1 +825 more	Copy number gain	See cases	GPathogenic
Select item 155267	GRCh38/hg38 6p25.3-23(chr6:152634-14417003)x3	LOC129995681, LOC129995682 +643 more	Copy number gain	See cases	GPathogenic
Select item 151603	GRCh38/hg38 6p25.3-22.3(chr6:155807-17058414)x3	ADTRP, ATXN1 +779 more	Copy number gain	See cases	GPathogenic
Select item 155715	GRCh38/hg38 6p25.3-23(chr6:156974-13855925)x1	ADTRP, BLOC1S5 +612 more	Copy number loss	See cases	GPathogenic
Select item 155631	GRCh38/hg38 6p25.3-24.1(chr6:156974-13081201)x3	LOC129995778, LOC129995779 +559 more	Copy number gain	See cases	GLikely pathogenic
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 154190	GRCh38/hg38 6p25.3-24.2(chr6:156974-11550817)x3	SLC35B3, SMIM13 +510 more	Copy number gain	See cases	GLikely pathogenic
Select item 144540	GRCh38/hg38 6p25.3-24.1(chr6:164360-13339881)x3	LOC129995802, LOC129995803 +573 more	Copy number gain	See cases	GPathogenic
Select item 58150	GRCh38/hg38 6p25.3-23(chr6:389423-13474956)x3	ADTRP, BLOC1S5 +537 more	Copy number gain	See cases	GPathogenic
Select item 154368	GRCh38/hg38 6p25.2-22.3(chr6:2862640-16697788)x1	ADTRP, ATXN1 +617 more	Copy number loss	See cases	GPathogenic
Select item 150044	GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3	ABCF1, ABT1 +1340 more	Copy number gain	See cases	GPathogenic
Select item 146906	GRCh38/hg38 6p25.2-24.1(chr6:4068792-13267799)x1	LOC129995677, LOC129995678 +331 more	Copy number loss	See cases	GPathogenic
Select item 1207683	NM_001372066.1(TFAP2A):c.*139T>C	TFAP2A	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1203480	NM_001372066.1(TFAP2A):c.*88C>A	TFAP2A	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 984572	NM_001372066.1(TFAP2A):c.1320del (p.Ter440TrpextTer?)	TFAP2A	Deletion (frameshift variant +1 more)	Neurodevelopmental abnormality	GUncertain significance
Select item 547805	NM_001372066.1(TFAP2A):c.1320A>G (p.Ter440Trp)	TFAP2A	Single nucleotide variant (stop lost)	Branchiooculofacial syndrome	GLikely pathogenic
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 1202377	NM_001372066.1(TFAP2A):c.1289G>A (p.Ser430Asn)	TFAP2A (S422N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2696520	NM_001372066.1(TFAP2A):c.1273del (p.Asp425fs)	TFAP2A (D417fs +2 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3355436	NM_001372066.1(TFAP2A):c.1271C>T (p.Thr424Met)	TFAP2A (T416M +2 more)	Single nucleotide variant (missense variant)	TFAP2A-related disorder	GUncertain significance
Select item 258982	NM_001372066.1(TFAP2A):c.1263C>T (p.Asn421=)	TFAP2A	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3368594	NM_001372066.1(TFAP2A):c.1249A>G (p.Ser417Gly)	TFAP2A (S409G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1700777	NM_001372066.1(TFAP2A):c.1226A>C (p.Lys409Thr)	TFAP2A (K401T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 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 780594	NM_001372066.1(TFAP2A):c.1194G>T (p.Thr398=)	TFAP2A	Single nucleotide variant (synonymous variant)	not provided	GBenign
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
Select item 1939536	NM_001372066.1(TFAP2A):c.1188G>A (p.Ala396=)	TFAP2A	Single nucleotide variant (synonymous 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 2195020	NM_001372066.1(TFAP2A):c.1185C>G (p.Ala395=)	TFAP2A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1462090	NM_001372066.1(TFAP2A):c.1182T>C (p.Cys394=)	TFAP2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1586218	NM_001372066.1(TFAP2A):c.1173C>G (p.Pro391=)	TFAP2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3325589	NM_001372066.1(TFAP2A):c.1165G>T (p.Gly389Cys)	TFAP2A (G381C +2 more)	Single nucleotide variant (missense variant)	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 1313292	NM_001372066.1(TFAP2A):c.1147C>T (p.Leu383Phe)	TFAP2A (L375F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 1313029	NM_001372066.1(TFAP2A):c.1094G>A (p.Arg365Gln)	TFAP2A (R357Q +2 more)	Single nucleotide variant (missense variant)	not provided	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 1800989	NM_001372066.1(TFAP2A):c.1078C>T (p.Pro360Ser)	TFAP2A (P352S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2966401	NM_001372066.1(TFAP2A):c.1053C>T (p.Thr351=)	TFAP2A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 523459	NM_001372066.1(TFAP2A):c.1043_1044del (p.Lys348fs)	TFAP2A (K340fs +2 more)	Deletion (frameshift variant)	Hypertelorism +13 more	GPathogenic
Select item 931468	NM_001372066.1(TFAP2A):c.1039T>C (p.Cys347Arg)	TFAP2A (C341R +2 more)	Single nucleotide variant (missense variant)	Branchiooculofacial syndrome	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 1273812	NM_001372066.1(TFAP2A):c.1032-44T>A	TFAP2A	Single nucleotide variant (intron variant)	Branchiooculofacial syndrome +1 more	GBenign
Select item 1240419	NM_001372066.1(TFAP2A):c.1031+233del	TFAP2A	Deletion (intron variant)	not provided	GBenign
Select item 1205546	NM_001372066.1(TFAP2A):c.1031+63C>T	TFAP2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1186043	NM_001372066.1(TFAP2A):c.1031+21G>A	TFAP2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1627073	NM_001372066.1(TFAP2A):c.1031+18A>G	TFAP2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1001119	NM_001372066.1(TFAP2A):c.1031+2dup	TFAP2A	Duplication (splice donor variant)	not provided	GUncertain significance
Select item 817504	NM_001372066.1(TFAP2A):c.1013dup (p.Asn338fs)	TFAP2A (N330fs +2 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
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 2777011	NM_001372066.1(TFAP2A):c.984C>T (p.Ser328=)	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 2895217	NM_001372066.1(TFAP2A):c.930C>T (p.Cys310=)	TFAP2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 3021480	NM_001372066.1(TFAP2A):c.918T>C (p.Phe306=)	TFAP2A	Single nucleotide variant (synonymous 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 547804	NM_001372066.1(TFAP2A):c.895G>C (p.Ala299Pro)	TFAP2A (A291P +2 more)	Single nucleotide variant (missense variant)	Branchiooculofacial syndrome	GLikely pathogenic
Select item 18465	NM_001372066.1(TFAP2A):c.892G>A (p.Glu298Lys)	TFAP2A (E290K +2 more)	Single nucleotide variant (missense variant)	Branchiooculofacial syndrome	GPathogenic
Select item 2959685	NM_001372066.1(TFAP2A):c.890-11C>T	TFAP2A	Single nucleotide variant (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 1282680	NM_001372066.1(TFAP2A):c.890-215_890-213del	TFAP2A	Microsatellite (intron variant)	not provided	GBenign
Select item 1189099	NM_001372066.1(TFAP2A):c.889+317_889+321del	TFAP2A	Deletion (intron variant)	not provided	GLikely benign
Select item 1238971	NM_001372066.1(TFAP2A):c.889+286_889+287insTC	TFAP2A	Insertion (intron variant)	not provided	GBenign
Select item 1190721	NM_001372066.1(TFAP2A):c.889+82T>G	TFAP2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1197928	NM_001372066.1(TFAP2A):c.889+73T>C	TFAP2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2063370	NM_001372066.1(TFAP2A):c.889+4A>C	TFAP2A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1033984	NM_001372066.1(TFAP2A):c.889+2dup	TFAP2A	Duplication (splice donor variant)	Branchiooculofacial syndrome	GLikely pathogenic
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 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 17941	NM_001372066.1(TFAP2A):c.832_848delinsAGGAT (p.Leu278_Arg283delinsArgIle)	TFAP2A	Indel (inframe_indel)	Branchiooculofacial syndrome	GPathogenic
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 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 973329	NM_001372066.1(TFAP2A):c.820A>G (p.Ile274Val)	TFAP2A (I266V +2 more)	Single nucleotide variant (missense variant)	Branchiooculofacial syndrome	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 1308014	NM_001372066.1(TFAP2A):c.811C>G (p.Leu271Val)	TFAP2A (L263V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 17938	NM_001372066.1(TFAP2A):c.791G>A (p.Gly264Glu)	TFAP2A (G258E +2 more)	Single nucleotide variant (missense variant)	Branchiooculofacial syndrome	GPathogenic
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 547803	NM_001372066.1(TFAP2A):c.773C>T (p.Ala258Val)	TFAP2A (A250V +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2614435	NM_001372066.1(TFAP2A):c.771-2_771-1del	TFAP2A	Deletion (splice acceptor variant)	Inborn genetic diseases	GLikely pathogenic
Select item 1939417	NM_001372066.1(TFAP2A):c.771-17A>G	TFAP2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1286741	NM_001372066.1(TFAP2A):c.771-230C>T	TFAP2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262219	NM_001372066.1(TFAP2A):c.771-340A>G	TFAP2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236465	NM_001372066.1(TFAP2A):c.770+275C>T	LOC121740638, TFAP2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281225	NM_001372066.1(TFAP2A):c.770+230T>C	LOC121740638, TFAP2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178438	NM_001372066.1(TFAP2A):c.770+22CCCGC[4]	LOC121740638, TFAP2A	Microsatellite (intron 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 1953952	NM_001372066.1(TFAP2A):c.770+13_770+17dup	LOC121740638, TFAP2A	Duplication (intron variant)	not provided	GLikely benign
Select item 1650963	NM_001372066.1(TFAP2A):c.770+16G>T	LOC121740638, TFAP2A	Single nucleotide variant (intron 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 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 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 17937	NM_001372066.1(TFAP2A):c.769A>G (p.Arg257Gly)	LOC121740638, TFAP2A-AS2 +1 more (R251G +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
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	GConflicting classifications of pathogenicity

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