LOC121740638[gene] - ClinVar

Search results

Items: 86

	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 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
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 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)	Inborn genetic diseases +1 more	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 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 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 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 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 807514	NM_001372066.1(TFAP2A):c.752T>C (p.Leu251Pro)	TFAP2A-AS2, LOC121740638 +1 more (L243P +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Branchiooculofacial syndrome	GPathogenic
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 737061	NM_001372066.1(TFAP2A):c.747G>A (p.Ser249=)	LOC121740638, TFAP2A +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GLikely benign
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 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 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 2902443	NM_001372066.1(TFAP2A):c.738C>T (p.Leu246=)	TFAP2A, TFAP2A-AS2 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
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 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 738194	NM_001372066.1(TFAP2A):c.729C>G (p.Pro243=)	LOC121740638, TFAP2A +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	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 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 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 2914545	NM_001372066.1(TFAP2A):c.717G>A (p.Arg239=)	LOC121740638, TFAP2A +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
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 755468	NM_001372066.1(TFAP2A):c.714G>A (p.Arg238=)	LOC121740638, TFAP2A +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GLikely benign
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 1175736	NM_001372066.1(TFAP2A):c.713G>C (p.Arg238Pro)	LOC121740638, TFAP2A +1 more (R230P +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 559909	NM_001372066.1(TFAP2A):c.712C>T (p.Arg238Trp)	TFAP2A-AS2, LOC121740638 +1 more (R230W +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Branchiooculofacial syndrome	GLikely pathogenic
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 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 2095335	NM_001372066.1(TFAP2A):c.700G>A (p.Ala234Thr)	LOC121740638, TFAP2A +1 more (A234T +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	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 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 1698731	NM_001372066.1(TFAP2A):c.687C>G (p.Tyr229Ter)	LOC121740638, TFAP2A +1 more (Y221* +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Branchiooculofacial syndrome	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	GLikely benign
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 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 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 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 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 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 192351	NM_001372066.1(TFAP2A):c.647T>A (p.Val216Asp)	LOC121740638, TFAP2A +1 more (V210D +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Branchiooculofacial syndrome	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 3347035	NM_001372066.1(TFAP2A):c.620_636delinsGGGT (p.Val207fs)	LOC121740638, TFAP2A +1 more (V199fs +2 more)	Indel (non-coding transcript variant +1 more)	TFAP2A-related disorder	GLikely pathogenic
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 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 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 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 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 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 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 624230	NM_001372066.1(TFAP2A):c.557A>G (p.Lys186Arg)	TFAP2A-AS2, LOC121740638 +1 more (K178R +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely pathogenic
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 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 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 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 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 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 1631143	NM_001372066.1(TFAP2A):c.539-19C>T	LOC121740638, TFAP2A +1 more	Single nucleotide variant (intron variant +1 more)	not provided +1 more	GLikely benign
Select item 1262289	NM_001372066.1(TFAP2A):c.539-54del	LOC121740638, TFAP2A +1 more	Deletion (non-coding transcript variant +1 more)	not provided	GBenign

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Items: 86