"GeneDx"[submitter] AND "TFAP2A"[gene] - ClinVar

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Items: 79

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 817504	NM_001372066.1(TFAP2A):c.1013dup (p.Asn338fs)	TFAP2A (N330fs +2 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
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 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 3373130	NM_001372066.1(TFAP2A):c.881T>A (p.Leu294Gln)	TFAP2A (L286Q +2 more)	Single nucleotide variant (missense variant)	not provided	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 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 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 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 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
Select item 1303161	NM_001372066.1(TFAP2A):c.721T>C (p.Ser241Pro)	LOC121740638, TFAP2A +1 more (S233P +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 547798	NM_001372066.1(TFAP2A):c.716G>C (p.Arg239Pro)	LOC121740638, TFAP2A +1 more (R231P +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GPathogenic
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)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 3340408	NM_001372066.1(TFAP2A):c.715C>G (p.Arg239Gly)	LOC121740638, TFAP2A +1 more (R231G +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 547797	NM_001372066.1(TFAP2A):c.703G>A (p.Glu235Lys)	TFAP2A, LOC121740638 +1 more (E227K +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Branchiooculofacial syndrome +1 more	GLikely pathogenic
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 1338941	NM_001372066.1(TFAP2A):c.614G>A (p.Gly205Asp)	LOC121740638, TFAP2A +1 more (G197D +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1311911	NM_001372066.1(TFAP2A):c.598G>A (p.Asp200Asn)	LOC121740638, TFAP2A +1 more (D192N +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
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 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 1334318	NM_001372066.1(TFAP2A):c.551T>C (p.Leu184Pro)	LOC121740638, TFAP2A +1 more (L176P +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 445515	NM_001372066.1(TFAP2A):c.544G>A (p.Val182Met)	LOC121740638, TFAP2A +1 more (V174M +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1215515	NM_001372066.1(TFAP2A):c.539-3C>T	TFAP2A-AS2, LOC121740638 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1262289	NM_001372066.1(TFAP2A):c.539-54del	LOC121740638, TFAP2A +1 more	Deletion (non-coding transcript variant +1 more)	not provided	GBenign
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)	Inborn genetic diseases +1 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 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 1314932	NM_001372066.1(TFAP2A):c.310_315dup (p.Ser104_Gln105dup)	TFAP2A	Duplication (inframe_insertion)	not provided	GUncertain significance
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 1309617	NM_001372066.1(TFAP2A):c.241C>G (p.Pro81Ala)	TFAP2A (P73A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1706168	NM_001372066.1(TFAP2A):c.232G>A (p.Val78Ile)	TFAP2A (V70I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1310601	NM_001372066.1(TFAP2A):c.211T>A (p.Ser71Thr)	TFAP2A (S63T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1254071	NM_001372066.1(TFAP2A):c.155A>G (p.Asn52Ser)	TFAP2A (N44S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1278166	NM_001372066.1(TFAP2A):c.52-1046C>T	TFAP2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1189597	NM_001372066.1(TFAP2A):c.52-1865G>C	TFAP2A	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1220675	NM_001372066.1(TFAP2A):c.52-2168del	TFAP2A, TFAP2A-AS1	Deletion (intron variant)	not provided	GBenign
Select item 1261480	NM_001372066.1(TFAP2A):c.52-2220C>T	TFAP2A, TFAP2A-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253179	NM_001372066.1(TFAP2A):c.52-2261C>T	LOC129995739, TFAP2A +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246182	NM_001372066.1(TFAP2A):c.51+173A>G	TFAP2A, TFAP2A-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1244791	NM_001372066.1(TFAP2A):c.51+168C>G	TFAP2A, TFAP2A-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1277380	NM_001372066.1(TFAP2A):c.51+124C>A	TFAP2A, TFAP2A-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1310390	NM_001372066.1(TFAP2A):c.14_15delinsTC (p.Trp5Phe)	TFAP2A, TFAP2A-AS1 (W5F)	Indel (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 1210805	NM_001372066.1(TFAP2A):c.-14G>C	TFAP2A, TFAP2A-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 1256916	NM_001372066.1(TFAP2A):c.-83G>C	TFAP2A, TFAP2A-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1278327	NM_001042425.3(TFAP2A):c.33+175G>A	TFAP2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3032632	NM_001042425.3(TFAP2A):c.33+10del	TFAP2A	Deletion (intron variant)	not provided	GLikely benign
Select item 1226049	NC_000006.12:g.10419731C>A	TFAP2A	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 1218996	NC_000006.12:g.10419846C>T	TFAP2A	Single nucleotide variant (genic upstream transcript variant)	not provided	GLikely benign
Select item 1287998	NC_000006.12:g.10419865C>T	TFAP2A	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 253526	GRCh37/hg19 6p25.3-22.3(chr6:168775-24023234)x3	STMND1, SYCP2L +95 more	Copy number gain	See cases	GPathogenic
Select item 253511	GRCh37/hg19 6p25.3-24.1(chr6:204009-11608587)x1	BLOC1S5, BMP6 +60 more	Copy number loss	See cases	GPathogenic
Select item 253430	GRCh37/hg19 6p25.1-22.3(chr6:5354402-17950079)x1	ADTRP, ATXN1 +51 more	Copy number loss	See cases	GPathogenic
Select item 1676379	NM_001032280.3(TFAP2A):c.260A>T (p.His87Leu)	TFAP2A (H87L +2 more)	Single nucleotide variant	not provided	GUncertain significance

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Items: 79