ClinVar for MedGen (Select 91261) - ClinVar

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Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 1805436	NM_001372066.1(TFAP2A):c.481del (p.Val161fs)	TFAP2A (V153fs +2 more)	Deletion (frameshift variant)	Branchiooculofacial syndrome	GPathogenic
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)	TFAP2A-related condition +1 more	GLikely pathogenic
Select item 1679402	NM_001372066.1(TFAP2A):c.739A>G (p.Asn247Asp)	LOC121740638, TFAP2A +1 more (N239D +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Branchiooculofacial syndrome	GLikely pathogenic
Select item 1645847	NM_001372066.1(TFAP2A):c.141G>A (p.Leu47=)	TFAP2A	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1638742	NM_001372066.1(TFAP2A):c.51+20G>T	TFAP2A, TFAP2A-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Branchiooculofacial syndrome +1 more	GLikely benign
Select item 1631143	NM_001372066.1(TFAP2A):c.539-19C>T	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 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 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 1346757	NM_001372066.1(TFAP2A):c.860A>G (p.Asn287Ser)	TFAP2A (N279S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1344642	NM_000503.6(EYA1):c.966+1G>C	EYA1	Single nucleotide variant (splice donor variant)	Branchiooculofacial syndrome	GLikely pathogenic
Select item 1301619	NM_001372066.1(TFAP2A):c.581C>T (p.Ala194Val)	LOC121740638, TFAP2A +1 more (A186V +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	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 1197928	NM_001372066.1(TFAP2A):c.889+73T>C	TFAP2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1033984	NM_001372066.1(TFAP2A):c.889+2dup	TFAP2A	Duplication (splice donor variant)	Branchiooculofacial syndrome	GLikely pathogenic
Select item 1028093	NM_001372066.1(TFAP2A):c.94C>T (p.Gln32Ter)	TFAP2A (Q24* +2 more)	Single nucleotide variant (nonsense)	Branchiooculofacial syndrome	GLikely pathogenic
Select item 982959	NM_001372066.1(TFAP2A):c.730G>A (p.Glu244Lys)	LOC121740638, TFAP2A +1 more (E236K +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Branchiooculofacial syndrome	GLikely pathogenic
Select item 981749	NC_000006.12:g.(?_10398710)_(10415642_?)del	TFAP2A	Deletion	Branchiooculofacial syndrome	GLikely pathogenic
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 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 829802	NM_001372066.1(TFAP2A):c.758G>A (p.Gly253Glu)	LOC121740638, TFAP2A +1 more (G253E +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Branchiooculofacial syndrome	GLikely pathogenic
Select item 807514	NM_001372066.1(TFAP2A):c.752T>C (p.Leu251Pro)	LOC121740638, TFAP2A +1 more (L243P +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Branchiooculofacial syndrome	GPathogenic
Select item 802190	NM_001372066.1(TFAP2A):c.493G>C (p.Glu165Gln)	TFAP2A-AS2, TFAP2A (E159Q +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Branchiooculofacial syndrome	GLikely benign
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 755468	NM_001372066.1(TFAP2A):c.714G>A (p.Arg238=)	LOC121740638, TFAP2A +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Branchiooculofacial syndrome +1 more	GLikely benign
Select item 751716	NM_001372066.1(TFAP2A):c.1215C>T (p.Thr405=)	TFAP2A	Single nucleotide variant (synonymous variant)	Branchiooculofacial syndrome +1 more	GLikely 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)	Branchiooculofacial syndrome +1 more	GLikely benign
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 713466	NM_001372066.1(TFAP2A):c.924C>T (p.Tyr308=)	TFAP2A	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
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 559909	NM_001372066.1(TFAP2A):c.712C>T (p.Arg238Trp)	LOC121740638, TFAP2A +1 more (R230W +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Branchiooculofacial syndrome	GLikely pathogenic
Select item 547805	NM_001372066.1(TFAP2A):c.1320A>G (p.Ter440Trp)	TFAP2A	Single nucleotide variant (stop lost)	Branchiooculofacial syndrome	GLikely pathogenic
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 547803	NM_001372066.1(TFAP2A):c.773C>T (p.Ala258Val)	TFAP2A (A250V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 547802	NM_001372066.1(TFAP2A):c.766C>T (p.Arg256Trp)	LOC121740638, TFAP2A +1 more (R248W +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Branchiooculofacial syndrome	GPathogenic
Select item 547801	NM_001372066.1(TFAP2A):c.766C>G (p.Arg256Gly)	LOC121740638, TFAP2A +1 more (R248G +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Branchiooculofacial syndrome	GPathogenic
Select item 547800	NM_001372066.1(TFAP2A):c.755G>A (p.Gly252Asp)	LOC121740638, TFAP2A +1 more (G244D +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Branchiooculofacial syndrome	GLikely pathogenic
Select item 547799	NM_001372066.1(TFAP2A):c.719T>C (p.Leu240Pro)	LOC121740638, TFAP2A +1 more (L232P +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Branchiooculofacial syndrome	GLikely pathogenic
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)	Branchiooculofacial syndrome	GPathogenic
Select item 547797	NM_001372066.1(TFAP2A):c.703G>A (p.Glu235Lys)	LOC121740638, TFAP2A +1 more (E227K +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Branchiooculofacial syndrome	GLikely pathogenic
Select item 547796	NM_001372066.1(TFAP2A):c.407_413dup (p.Pro139fs)	TFAP2A (P131fs +2 more)	Duplication (frameshift variant)	Branchiooculofacial syndrome	GLikely pathogenic
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 522084	NM_001372066.1(TFAP2A):c.767G>A (p.Arg256Gln)	LOC121740638, TFAP2A +1 more (R248Q +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GLikely pathogenic
Select item 391707	NM_001372066.1(TFAP2A):c.257C>T (p.Pro86Leu)	TFAP2A (P78L +2 more)	Single nucleotide variant (missense variant)	Branchiooculofacial syndrome +1 more	GUncertain significance
Select item 192351	NM_001372066.1(TFAP2A):c.647T>A (p.Val216Asp)	TFAP2A, TFAP2A-AS2 +1 more (V210D +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Branchiooculofacial syndrome	GPathogenic
Select item 192350	NM_001372066.1(TFAP2A):c.655C>A (p.Arg219Ser)	LOC121740638, TFAP2A +1 more (R213S +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Branchiooculofacial syndrome	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)	Inborn genetic diseases +2 more	GPathogenic/Likely 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 17941	NM_001372066.1(TFAP2A):c.832_848delinsAGGAT (p.Leu278_Arg283delinsArgIle)	TFAP2A	Indel (inframe_indel)	Branchiooculofacial syndrome	GPathogenic
Select item 17939	NM_001372066.1(TFAP2A):c.703_714del (p.Glu235_Arg238del)	LOC121740638, TFAP2A +1 more	Deletion (non-coding transcript variant +1 more)	Branchiooculofacial syndrome	GPathogenic
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 17937	NM_001372066.1(TFAP2A):c.769A>G (p.Arg257Gly)	LOC121740638, TFAP2A +1 more (R251G +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 7935	NM_000503.6(EYA1):c.1319G>A (p.Arg440Gln)	EYA1 (R440Q +4 more)	Single nucleotide variant (missense variant)	Rare genetic deafness +2 more	GPathogenic/Likely pathogenic

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Items: 60