ClinVar for Gene (Select 339488) - ClinVar

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Links from Gene

Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3325604	NM_178548.4(TFAP2E):c.613G>A (p.Asp205Asn)	TFAP2E (D205N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325603	NM_178548.4(TFAP2E):c.98G>A (p.Gly33Glu)	TFAP2E, TFAP2E-AS1 (G33E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325602	NM_178548.4(TFAP2E):c.482C>G (p.Ala161Gly)	TFAP2E, TFAP2E-AS1 (A161G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3325601	NM_178548.4(TFAP2E):c.1109G>A (p.Arg370His)	TFAP2E (R370H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325600	NM_178548.4(TFAP2E):c.37G>C (p.Asp13His)	TFAP2E, TFAP2E-AS1 (D13H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325599	NM_178548.4(TFAP2E):c.737C>T (p.Ser246Leu)	TFAP2E (S246L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176465	NM_178548.4(TFAP2E):c.989G>A (p.Arg330Gln)	TFAP2E (R330Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176464	NM_178548.4(TFAP2E):c.967G>A (p.Ala323Thr)	TFAP2E (A323T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176462	NM_178548.4(TFAP2E):c.724C>G (p.Gln242Glu)	TFAP2E (Q242E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176461	NM_178548.4(TFAP2E):c.607G>T (p.Ala203Ser)	TFAP2E (A203S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176460	NM_178548.4(TFAP2E):c.527G>C (p.Gly176Ala)	TFAP2E, TFAP2E-AS1 (G176A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176459	NM_178548.4(TFAP2E):c.445G>T (p.Gly149Cys)	TFAP2E, TFAP2E-AS1 (G149C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176458	NM_178548.4(TFAP2E):c.398C>T (p.Ala133Val)	TFAP2E, TFAP2E-AS1 (A133V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176457	NM_178548.4(TFAP2E):c.338C>T (p.Pro113Leu)	TFAP2E, TFAP2E-AS1 (P113L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176456	NM_178548.4(TFAP2E):c.330C>A (p.His110Gln)	TFAP2E, TFAP2E-AS1 (H110Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176455	NM_178548.4(TFAP2E):c.254G>A (p.Gly85Asp)	TFAP2E, TFAP2E-AS1 (G85D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176454	NM_178548.4(TFAP2E):c.1319A>G (p.His440Arg)	TFAP2E (H440R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176452	NM_178548.4(TFAP2E):c.1030A>G (p.Met344Val)	TFAP2E (M344V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 2603375	NM_178548.4(TFAP2E):c.1004C>T (p.Pro335Leu)	TFAP2E (P335L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568608	NM_178548.4(TFAP2E):c.605T>G (p.Leu202Trp)	TFAP2E (L202W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558038	NM_178548.4(TFAP2E):c.436G>A (p.Gly146Ser)	TFAP2E, TFAP2E-AS1 (G146S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544971	NM_178548.4(TFAP2E):c.893C>T (p.Ser298Leu)	TFAP2E (S298L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529531	NM_178548.4(TFAP2E):c.368C>T (p.Ala123Val)	TFAP2E, TFAP2E-AS1 (A123V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528982	NM_178548.4(TFAP2E):c.782G>A (p.Arg261His)	TFAP2E (R261H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509702	NM_178548.4(TFAP2E):c.859C>T (p.Arg287Cys)	TFAP2E (R287C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509334	NM_178548.4(TFAP2E):c.215C>A (p.Ala72Asp)	TFAP2E, TFAP2E-AS1 (A72D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490730	NM_178548.4(TFAP2E):c.97G>C (p.Gly33Arg)	TFAP2E, TFAP2E-AS1 (G33R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490729	NM_178548.4(TFAP2E):c.262G>C (p.Ala88Pro)	TFAP2E, TFAP2E-AS1 (A88P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411764	NM_178548.4(TFAP2E):c.500A>G (p.Glu167Gly)	TFAP2E, TFAP2E-AS1 (E167G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408084	NM_178548.4(TFAP2E):c.319G>T (p.Ala107Ser)	TFAP2E, TFAP2E-AS1 (A107S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405506	NM_178548.4(TFAP2E):c.86A>C (p.Gln29Pro)	TFAP2E, TFAP2E-AS1 (Q29P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387770	NM_178548.4(TFAP2E):c.598C>T (p.Leu200Phe)	TFAP2E (L200F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339070	NM_178548.4(TFAP2E):c.330C>G (p.His110Gln)	TFAP2E, TFAP2E-AS1 (H110Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329518	NM_178548.4(TFAP2E):c.520G>C (p.Glu174Gln)	TFAP2E, TFAP2E-AS1 (E174Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325351	NM_178548.4(TFAP2E):c.142G>A (p.Ala48Thr)	TFAP2E, TFAP2E-AS1 (A48T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306224	NM_178548.4(TFAP2E):c.781C>T (p.Arg261Cys)	TFAP2E (R261C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306082	NM_178548.4(TFAP2E):c.409C>T (p.Pro137Ser)	TFAP2E, TFAP2E-AS1 (P137S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279813	NM_178548.4(TFAP2E):c.263C>T (p.Ala88Val)	TFAP2E, TFAP2E-AS1 (A88V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266508	NM_178548.4(TFAP2E):c.97G>A (p.Gly33Arg)	TFAP2E, TFAP2E-AS1 (G33R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248611	NM_178548.4(TFAP2E):c.1139A>T (p.Gln380Leu)	TFAP2E (Q380L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226541	NM_178548.4(TFAP2E):c.1301C>T (p.Ser434Leu)	TFAP2E (S434L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220363	NM_178548.4(TFAP2E):c.296C>T (p.Ala99Val)	TFAP2E, TFAP2E-AS1 (A99V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220362	NM_178548.4(TFAP2E):c.295G>A (p.Ala99Thr)	TFAP2E, TFAP2E-AS1 (A99T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218797	NM_178548.4(TFAP2E):c.482C>T (p.Ala161Val)	TFAP2E, TFAP2E-AS1 (A161V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215291	NM_178548.4(TFAP2E):c.47G>A (p.Gly16Glu)	TFAP2E, TFAP2E-AS1 (G16E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209756	NM_178548.4(TFAP2E):c.529A>T (p.Met177Leu)	TFAP2E, TFAP2E-AS1 (M177L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808707	GRCh37/hg19 1p34.3(chr1:35104233-37357913)x1	ADPRS, AGO1 +32 more	Copy number loss	not provided	GPathogenic
Select item 1526904	GRCh37/hg19 1p34.3(chr1:36041366-39112237)	ADPRS, AGO1 +37 more	Copy number loss	not specified	GUncertain significance
Select item 1526893	GRCh37/hg19 1p34.3(chr1:35950860-36635695)	ADPRS, AGO1 +12 more	Copy number gain	not specified	GUncertain significance
Select item 1526873	GRCh37/hg19 1p34.3(chr1:35950860-36465764)	AGO1, AGO3 +7 more	Copy number loss	not specified	GUncertain significance
Select item 1526762	GRCh37/hg19 1p35.1-33(chr1:33285582-47891811)	A3GALT2, ADPRS +202 more	Copy number gain	not specified	GPathogenic
Select item 686407	GRCh37/hg19 1p34.3(chr1:34915050-36163162)x3	DLGAP3, GJA4 +13 more	Copy number gain	not provided	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 625764	GRCh37/hg19 1p35.1-34.3(chr1:32859415-36454915)	YARS1, ZBTB8A +41 more	Copy number loss	not provided	GPathogenic
Select item 584069	NC_000001.10:g.(?_33241563)_(46663513_?)dup	KCNQ4, KDM4A +179 more	Duplication	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 395434	GRCh37/hg19 1p34.3(chr1:34830287-36945093)x1	ADPRS, AGO1 +31 more	Copy number loss	See cases	GPathogenic
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LINC02811, LITATS1 +1147 more	Copy number gain	See cases	GPathogenic
Select item 148904	GRCh38/hg38 1p34.3(chr1:34753938-36055310)x1	AGO1, AGO3 +70 more	Copy number loss	See cases	GLikely pathogenic

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Links from Gene

Items: 61