ClinVar for Gene (Select 6871) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2684846	GRCh37/hg19 17q12(chr17:34440083-36410559)x3	AATF, ACACA +22 more	Copy number gain	not provided	GPathogenic
Select item 2671580	Single allele	AATF, ACACA +13 more	Deletion	not provided	GPathogenic
Select item 2580315	GRCh37/hg19 17q12(chr17:34752221-36105007)x3	AATF, ACACA +14 more	Copy number gain	Chromosome 17q12 deletion syndrome	GPathogenic
Select item 2579204	GRCh38/hg38 17q12(chr17:36486532-37745203)x1	AATF, ACACA +32 more	Copy number loss	Chromosome 17q12 deletion syndrome	GPathogenic
Select item 2574697	GRCh37/hg19 17q11.2-12(chr17:30572862-35843988)	AATF, ACACA +66 more	Copy number loss	Chromosome 17q12 deletion syndrome	GPathogenic
Select item 2552214	NM_001166105.3(TADA2A):c.651G>C (p.Glu217Asp)	TADA2A (E217D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518986	NM_001166105.3(TADA2A):c.8G>A (p.Arg3His)	TADA2A (R3H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517964	NM_001166105.3(TADA2A):c.888T>G (p.Asn296Lys)	TADA2A (N296K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514508	NM_001166105.3(TADA2A):c.475T>G (p.Ser159Ala)	TADA2A (S159A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2506537	GRCh37/hg19 17q12(chr17:34842545-36293050)	AATF, ACACA +14 more	Copy number loss	HNF1B-related disorder	GPathogenic
Select item 2499653	GRCh38/hg38 17q12(chr17:36138501-37924067)	LOC126862543, LOC126862544 +41 more	Copy number gain	Anomalous pulmonary venous return	GPathogenic
Select item 2487684	NM_001166105.3(TADA2A):c.548C>T (p.Ala183Val)	TADA2A (A183V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2445208	Single allele	C17orf78, TADA2A +13 more	Deletion	See cases	GLikely pathogenic
Select item 2423122	NC_000017.10:g.(?_34892951)_(36104875_?)dup	DHRS11, GGNBP2 +11 more	Duplication	Hyperphosphatasia with intellectual disability syndrome 5	GUncertain significance
Select item 2338177	NM_001166105.3(TADA2A):c.474C>A (p.Asp158Glu)	TADA2A (D158E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336239	NM_001166105.3(TADA2A):c.406G>A (p.Glu136Lys)	TADA2A (E136K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314530	NM_001166105.3(TADA2A):c.558C>G (p.Asp186Glu)	TADA2A (D186E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297345	NM_001166105.3(TADA2A):c.1144G>C (p.Glu382Gln)	TADA2A (E382Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255607	NM_001166105.3(TADA2A):c.743A>G (p.Gln248Arg)	TADA2A (Q248R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244495	NM_001166105.3(TADA2A):c.130C>A (p.Gln44Lys)	TADA2A (Q44K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228117	NM_001166105.3(TADA2A):c.488G>A (p.Arg163Gln)	TADA2A (R163Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223658	NM_001166105.3(TADA2A):c.73A>G (p.Met25Val)	TADA2A (M25V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808648	GRCh37/hg19 17q12(chr17:34822466-36404136)x1	AATF, ACACA +15 more	Copy number loss	not provided	GPathogenic
Select item 1807768	GRCh37/hg19 17q12(chr17:34425363-36404555)x3	AATF, ACACA +23 more	Copy number gain	not provided	GPathogenic
Select item 1711449	GRCh37/hg19 17q12(chr17:34842544-36104875)x3	AATF, ACACA +13 more	Copy number gain	not provided	GPathogenic
Select item 1708189	GRCh37/hg19 17q12(chr17:34822465-36243781)x1	AATF, ACACA +13 more	Copy number loss	See cases	GPathogenic
Select item 1703620	GRCh37/hg19 17q12(chr17:34822465-36410559)	AATF, ACACA +15 more	Copy number loss	Chromosome 17q12 deletion syndrome	GPathogenic
Select item 1703619	GRCh37/hg19 17q12(chr17:34463923-36410559)	AATF, ACACA +22 more	Copy number loss	Chromosome 17q12 deletion syndrome	GPathogenic
Select item 1412924	NC_000017.10:g.(?_34892951)_(36104875_?)del	DHRS11, DUSP14 +11 more	Deletion	Hyperphosphatasia with intellectual disability syndrome 5	GUncertain significance
Select item 1340575	GRCh37/hg19 17q12(chr17:35580576-35818709)x3	ACACA, C17orf78 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1338823	GRCh38/hg38 17q12(chr17:36719878-37889304)	DDX52, AATF +25 more	Copy number loss	Diaphragmatic eventration	GUncertain significance
Select item 1330160	GRCh37/hg19 17q12(chr17:34807069-36284994)x1	AATF, ACACA +14 more	Copy number loss	Chromosome 17q12 deletion syndrome	GLikely pathogenic
Select item 1180528	GRCh37/hg19 17q12(chr17:34815466-36249366)x3	GGNBP2, SYNRG +13 more	Copy number gain	not provided	GPathogenic
Select item 997073	GRCh37/hg19 17q12(chr17:34437475-36243028)	AATF, ACACA +20 more	Copy number gain	Polyhydramnios +1 more	GPathogenic
Select item 997044	GRCh37/hg19 17q12(chr17:34817422-36243028)	AATF, ACACA +13 more	Copy number gain	Positional foot deformity	GPathogenic
Select item 980158	GRCh37/hg19 17q12(chr17:34822465-36410559)x3	AATF, ACACA +15 more	Copy number gain	not provided	GPathogenic
Select item 929346	GRCh37/hg19 17q12(chr17:34815551-36244358)x3	C17orf78, DDX52 +13 more	Copy number gain	See cases	GPathogenic
Select item 815931	GRCh37/hg19 17q12(chr17:35588688-35818634)x3	C17orf78, ACACA +1 more	Copy number gain	not provided	GUncertain significance
Select item 815930	GRCh37/hg19 17q12(chr17:35258617-35825367)x3	AATF, ACACA +3 more	Copy number gain	not provided	GUncertain significance
Select item 688197	GRCh37/hg19 17q12(chr17:35711159-36244358)x3	ACACA, C17orf78 +5 more	Copy number gain	not provided	GUncertain significance
Select item 686144	GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3	AATF, ABHD15 +201 more	Copy number gain	not provided	GPathogenic
Select item 635885	Single allele	AATF, ACACA +13 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 625732	GRCh37/hg19 17q12(chr17:34437475-36214026)	AATF, ACACA +20 more	Copy number gain	Chromosome 17q12 duplication syndrome	GPathogenic
Select item 625689	GRCh37/hg19 17q12(chr17:34819191-36194230)	AATF, ACACA +13 more	Copy number loss	Chromosome 17q12 deletion syndrome	GPathogenic
Select item 625680	GRCh37/hg19 17q12(chr17:34842059-36214026)	AATF, ACACA +13 more	Copy number gain	Chromosome 17q12 duplication syndrome	GPathogenic
Select item 625651	GRCh37/hg19 17q12(chr17:34819191-36104803)	AATF, ACACA +13 more	Copy number gain	Chromosome 17q12 duplication syndrome	GPathogenic
Select item 625612	GRCh37/hg19 17q12(chr17:34848678-36194230)	AATF, ACACA +13 more	Copy number gain	Chromosome 17q12 duplication syndrome	GPathogenic
Select item 564443	GRCh37/hg19 17q12(chr17:34822465-36404136)x1	AATF, ACACA +15 more	Copy number loss	not provided	GPathogenic
Select item 564442	GRCh37/hg19 17q12(chr17:34822465-36371146)x3	AATF, ACACA +15 more	Copy number gain	not provided	GPathogenic
Select item 564441	GRCh37/hg19 17q12(chr17:34822465-36351919)x3	AATF, ACACA +15 more	Copy number gain	not provided	GPathogenic
Select item 564440	GRCh37/hg19 17q12(chr17:34822465-36316161)x3	AATF, ACACA +14 more	Copy number gain	not provided	GPathogenic
Select item 564439	GRCh37/hg19 17q12(chr17:34822465-36307773)x1	AATF, ACACA +14 more	Copy number loss	not provided	GPathogenic
Select item 564438	GRCh37/hg19 17q12(chr17:34822465-36283807)x1	AATF, ACACA +13 more	Copy number loss	not provided	GPathogenic
Select item 564437	GRCh37/hg19 17q12(chr17:34822465-36283612)x3	AATF, ACACA +13 more	Copy number gain	not provided	GPathogenic
Select item 564436	GRCh37/hg19 17q12(chr17:34822465-36244358)x1	GGNBP2, ACACA +13 more	Copy number loss	not provided	GPathogenic
Select item 564435	GRCh37/hg19 17q12(chr17:34822465-36244332)x3	LHX1, MRM1 +13 more	Copy number gain	not provided	GPathogenic
Select item 564434	GRCh37/hg19 17q12(chr17:34477385-36404555)x1	AATF, ACACA +22 more	Copy number loss	not provided	GPathogenic
Select item 564433	GRCh37/hg19 17q12(chr17:34475679-36311009)x1	AATF, ACACA +21 more	Copy number loss	not provided	GPathogenic
Select item 564432	GRCh37/hg19 17q12(chr17:34426244-36225988)x3	AATF, ACACA +21 more	Copy number gain	not provided	GPathogenic
Select item 564431	GRCh37/hg19 17q12(chr17:34425362-36283612)x3	AATF, ACACA +21 more	Copy number gain	not provided	GPathogenic
Select item 545222	NC_000017.11:g.(?_36446252)_(37887875_?)del	AATF, ACACA +33 more	Deletion	Autism	GPathogenic
Select item 545221	Single allele	AATF, ACACA +37 more	Duplication	Autism	GLikely pathogenic
Select item 545220	NC_000017.11:g.(?_36357256)_(37995300_?)del	AATF, ACACA +37 more	Deletion	Schizophrenia	GPathogenic
Select item 545219	NC_000017.11:g.(?_36143765)_(37995300_?)del	AATF, ACACA +42 more	Deletion	Autism	GPathogenic
Select item 523265	GRCh37/hg19 17q12(chr17:34611352-36248918)	DDX52, DHRS11 +16 more	Copy number gain	Lower limb muscle weakness +2 more	GPathogenic
Select item 446360	GRCh37/hg19 17q12(chr17:34815551-36244358)x1	AATF, ACACA +13 more	Copy number loss	See cases	GPathogenic
Select item 443555	GRCh37/hg19 17q12(chr17:34822465-36225988)x3	AATF, ACACA +13 more	Copy number gain	See cases	GLikely pathogenic
Select item 443554	GRCh37/hg19 17q12(chr17:34437482-36404555)x3	AATF, ACACA +22 more	Copy number gain	See cases	GLikely pathogenic
Select item 443354	GRCh37/hg19 17q12(chr17:34822465-36316161)x1	AATF, ACACA +14 more	Copy number loss	See cases	GPathogenic
Select item 442993	GRCh37/hg19 17q12(chr17:34822466-36244358)x1	AATF, ACACA +13 more	Copy number loss	See cases	GPathogenic
Select item 442967	GRCh37/hg19 17q12(chr17:34822466-36283807)x1	AATF, ACACA +13 more	Copy number loss	See cases	GPathogenic
Select item 442749	GRCh37/hg19 17q12(chr17:34822465-36244358)x3	AATF, ACACA +13 more	Copy number gain	See cases	GLikely pathogenic
Select item 442748	GRCh37/hg19 17q12(chr17:34822465-36244358)x1	AATF, ACACA +13 more	Copy number loss	See cases	GPathogenic
Select item 442652	GRCh37/hg19 17q12(chr17:34822465-36307773)x1	AATF, ACACA +14 more	Copy number loss	See cases	GPathogenic
Select item 442610	GRCh37/hg19 17q12(chr17:34475679-36283612)x1	AATF, ACACA +20 more	Copy number loss	See cases	GPathogenic
Select item 442573	GRCh37/hg19 17q12(chr17:34447113-36283612)x1	AATF, ACACA +20 more	Copy number loss	See cases	GPathogenic
Select item 442521	GRCh37/hg19 17q12(chr17:34822466-36351934)x1	AATF, ACACA +15 more	Copy number loss	See cases	GPathogenic
Select item 442359	GRCh37/hg19 17q12(chr17:34437482-36350584)x3	CCL3L1, AATF +22 more	Copy number gain	See cases	GLikely pathogenic
Select item 442284	GRCh37/hg19 17q12(chr17:34822466-36404136)x1	AATF, ACACA +15 more	Copy number loss	See cases	GPathogenic
Select item 442084	GRCh37/hg19 17q12(chr17:34822467-36307773)x1	AATF, ACACA +14 more	Copy number loss	See cases	GPathogenic
Select item 442014	GRCh37/hg19 17q12(chr17:34822465-36300630)x1	AATF, ACACA +14 more	Copy number loss	See cases	GPathogenic
Select item 442009	GRCh37/hg19 17q12(chr17:34822465-36316144)x1	AATF, ACACA +14 more	Copy number loss	See cases	GPathogenic
Select item 441912	GRCh37/hg19 17q12(chr17:34822465-36397323)x1	AATF, ACACA +15 more	Copy number loss	See cases	GPathogenic
Select item 441910	GRCh37/hg19 17q12(chr17:34822465-36410559)x3	AATF, ACACA +15 more	Copy number gain	See cases	GLikely pathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	EFTUD2, EIF1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	KRT15, KRT16 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441643	GRCh37/hg19 17q12(chr17:34822466-36300466)x1	AATF, ACACA +14 more	Copy number loss	See cases	GPathogenic
Select item 395024	GRCh37/hg19 17q12(chr17:34849849-36151287)x3	AATF, ACACA +13 more	Copy number gain	See cases	GPathogenic
Select item 394410	GRCh37/hg19 17q12(chr17:35588186-35802087)x3	ACACA, C17orf78 +1 more	Copy number gain	See cases	GUncertain significance
Select item 393547	GRCh37/hg19 17q12(chr17:34815551-36208392)x1	AATF, ACACA +13 more	Copy number loss	VATER association	GPathogenic
Select item 375218	GRCh37/hg19 17q12(chr17:34815072-36192492)x1	AATF, ACACA +13 more	Deletion	Chromosome 17q12 deletion syndrome	GPathogenic
Select item 253502	GRCh37/hg19 17q12(chr17:34849849-36151346)x1	AATF, ACACA +13 more	Copy number loss	See cases	GPathogenic
Select item 253472	GRCh37/hg19 17q12(chr17:34849849-36151346)x3	AATF, ACACA +13 more	Copy number gain	See cases	GPathogenic

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