TFAP4[gene] - ClinVar

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Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	ABAT, ABCA3 +822 more	Copy number gain	See cases	GPathogenic
Select item 150284	GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3	EEF2KMT, ELOB +917 more	Copy number gain	See cases	GPathogenic
Select item 144298	GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3	ABAT, ABCA3 +843 more	Copy number gain	See cases	GPathogenic
Select item 155643	GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3	ABAT, ABCA3 +926 more	Copy number gain	See cases	GPathogenic
Select item 59428	GRCh38/hg38 16p13.3(chr16:2850734-7110697)x1	ADCY9, ALG1 +262 more	Copy number loss	See cases	GPathogenic
Select item 148879	GRCh38/hg38 16p13.3(chr16:3560564-4266796)x1	ADCY9, CREBBP +35 more	Copy number loss	See cases	GPathogenic
Select item 1684659	NC_000016.10:g.3619617_4448281del	ADCY9, LINC01569 +40 more	Deletion	See cases	GPathogenic
Select item 57281	GRCh38/hg38 16p13.3(chr16:3710449-4644951)x3	ADCY9, C16orf96 +54 more	Copy number gain	See cases	GUncertain significance
Select item 154437	GRCh38/hg38 16p13.3(chr16:3726702-4644961)x3	ADCY9, C16orf96 +51 more	Copy number gain	See cases	GPathogenic
Select item 657383	NC_000016.10:g.(?_3727698)_(4802591_?)del	LOC130058360, LOC130058361 +66 more	Deletion	Rubinstein-Taybi syndrome	GPathogenic
Select item 148700	GRCh38/hg38 16p13.3(chr16:3820522-4668347)x1	ADCY9, C16orf96 +49 more	Copy number loss	See cases	GPathogenic
Select item 559402	Single allele	LOC130058361, LOC130058362 +10 more	Deletion	Secondary microcephaly +5 more	GUncertain significance
Select item 2473686	NM_003223.3(TFAP4):c.990G>T (p.Glu330Asp)	TFAP4 (E330D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615211	NM_003223.3(TFAP4):c.975C>G (p.Asp325Glu)	TFAP4 (D325E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309705	NM_003223.3(TFAP4):c.971T>C (p.Met324Thr)	TFAP4 (M324T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280763	NM_003223.3(TFAP4):c.932A>T (p.Asp311Val)	TFAP4 (D311V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325607	NM_003223.3(TFAP4):c.920C>A (p.Ala307Asp)	TFAP4 (A307D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176467	NM_003223.3(TFAP4):c.734C>T (p.Ser245Phe)	TFAP4 (S245F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776972	NM_003223.3(TFAP4):c.659G>A (p.Arg220Gln)	TFAP4 (R220Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3325605	NM_003223.3(TFAP4):c.639G>T (p.Glu213Asp)	TFAP4 (E213D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369738	NM_003223.3(TFAP4):c.605A>C (p.Glu202Ala)	TFAP4 (E202A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345181	NM_003223.3(TFAP4):c.389C>T (p.Ala130Val)	TFAP4 (A130V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607976	NM_003223.3(TFAP4):c.332C>T (p.Thr111Ile)	TFAP4 (T111I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325606	NM_003223.3(TFAP4):c.230A>G (p.His77Arg)	TFAP4 (H77R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547900	NM_003223.3(TFAP4):c.190A>G (p.Ile64Val)	TFAP4 (I64V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176466	NM_003223.3(TFAP4):c.46C>G (p.His16Asp)	TFAP4 (H16D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495676	NM_003223.3(TFAP4):c.40T>A (p.Leu14Met)	TFAP4 (L14M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3024595	GRCh37/hg19 16p13.3(chr16:2990033-4837646)x1	CORO7, KREMEN2 +52 more	Copy number loss	not provided	GPathogenic
Select item 2425098	NC_000016.9:g.(?_3293141)_(5971108_?)dup	C16orf89, ADCY9 +45 more	Duplication	Rubinstein-Taybi syndrome	GUncertain significance
Select item 2425037	NC_000016.9:g.(?_256302)_(4852572_?)dup	TIGD7, TMEM204 +170 more	Duplication	Idiopathic generalized epilepsy +3 more	GUncertain significance
Select item 1710928	GRCh37/hg19 16p13.3(chr16:111043-6627459)x3	ABCA3, ADCY9 +187 more	Copy number gain	See cases	GPathogenic
Select item 1180508	GRCh37/hg19 16p13.3(chr16:84485-5251013)x3	JPT2, KCTD5 +188 more	Copy number gain	not provided	GPathogenic
Select item 1011075	NC_000016.9:g.(?_3929813)_(4387545_?)dup	ADCY9, CREBBP +3 more	Duplication	Rubinstein-Taybi syndrome +1 more	GUncertain significance
Select item 983281	GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3	ABAT, ABCC1 +252 more	Copy number gain	See cases	GPathogenic
Select item 980573	GRCh37/hg19 16p13.3(chr16:85880-5249457)x3	ABCA3, ADCY9 +188 more	Copy number gain	not provided	GPathogenic
Select item 831384	NC_000016.10:g.(?_3727698)_(4802591_?)dup	CORO7-PAM16, CREBBP +21 more	Duplication	Amelocerebrohypohidrotic syndrome	GUncertain significance
Select item 831349	NC_000016.10:g.(?_3744874)_(4337544_?)del	ADCY9, CREBBP +3 more	Deletion	Rubinstein-Taybi syndrome	GPathogenic
Select item 815770	GRCh37/hg19 16p13.3(chr16:2651354-4614965)x3	ADCY9, BICDL2 +56 more	Copy number gain	not provided	GPathogenic
Select item 688768	GRCh37/hg19 16p13.3(chr16:3469027-4328143)x3	ADCY9, C16orf90 +10 more	Copy number gain	not provided	GPathogenic
Select item 685643	GRCh37/hg19 16p13.3(chr16:3731117-5325699)x3	ADCY9, ALG1 +30 more	Copy number gain	not provided	GPathogenic
Select item 625723	GRCh37/hg19 16p13.3(chr16:109978-4316797)	ABCA3, ADCY9 +159 more	Copy number gain	Chromosome 16p13.3 duplication syndrome	GPathogenic
Select item 564258	GRCh37/hg19 16p13.3(chr16:2651354-4460114)x3	ADCY9, BICDL2 +51 more	Copy number gain	not provided	GPathogenic
Select item 564256	GRCh37/hg19 16p13.3(chr16:1505184-4415346)x3	ABCA3, ADCY9 +103 more	Copy number gain	not provided	GPathogenic
Select item 564254	GRCh37/hg19 16p13.3-13.13(chr16:85880-11209288)x3	ABAT, ABCA3 +206 more	Copy number gain	not provided	GPathogenic
Select item 443477	GRCh37/hg19 16p13.3-13.2(chr16:85880-9883129)x3	ABAT, ABCA3 +198 more	Copy number gain	See cases	GPathogenic
Select item 443444	GRCh37/hg19 16p13.3(chr16:3146027-6362229)x1	ADCY9, ALG1 +50 more	Copy number loss	See cases	GPathogenic
Select item 443183	GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3	ABAT, ABCA3 +295 more	Copy number gain	See cases	GPathogenic
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	CCL22, CCNF +811 more	Copy number gain	See cases	GPathogenic
Select item 442872	GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3	PRSS27, PRSS33 +263 more	Copy number gain	See cases	GPathogenic
Select item 442459	GRCh37/hg19 16p13.3(chr16:2891391-4440397)x3	ADCY9, BICDL2 +42 more	Copy number gain	See cases	GUncertain significance
Select item 395719	GRCh37/hg19 16p13.3-13.2(chr16:78801-9169448)	CLDN6, CLDN9 +196 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	ABCC6, BCL7C +811 more	Copy number gain	See cases	GPathogenic
Select item 394840	GRCh37/hg19 16p13.3(chr16:97133-5122974)x3	ABCA3, ADCY9 +187 more	Copy number gain	See cases	GPathogenic
Select item 375693	maternal UPD(16p)	ALG1, BICDL2 +388 more	Complex	Hemimegalencephaly	GPathogenic
Select item 221511	GRCh37/hg19 16p13.3-12.3(chr16:1274615-19073133)x3	AMDHD2, ANKS3 +202 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 221391	GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3	ABAT, ABCA3 +384 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 219021	GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3	ABAT, ABCA3 +330 more	Copy number gain	See cases	GPathogenic

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Items: 58