ClinVar for Gene (Select 11056) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3338433	GRCh37/hg19 17q12(chr17:34842442-36065085)x3	AATF, ACACA +13 more	Copy number gain	Hyperphosphatasia with intellectual disability syndrome 5	GLikely pathogenic
Select item 3271362	NM_007010.5(DDX52):c.11A>G (p.His4Arg)	DDX52, LOC105371756 (H4R)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3271361	NM_007010.5(DDX52):c.977A>G (p.Asp326Gly)	DDX52 (D218G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242217	GRCh37/hg19 17q12-22(chr17:41196270-41277589)	SLC4A1, DCAKD +422 more	Copy number loss	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 3148907	GRCh37/hg19 17q12(chr17:34822466-36378678)x1	AATF, ACACA +15 more	Copy number loss	See cases	GPathogenic
Select item 3148903	GRCh37/hg19 17q12(chr17:34822466-36307773)x1	AATF, ACACA +14 more	Copy number loss	See cases	GPathogenic
Select item 3081116	NM_007010.5(DDX52):c.882T>A (p.Asn294Lys)	DDX52 (N294K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081115	NM_007010.5(DDX52):c.833T>C (p.Phe278Ser)	DDX52 (F278S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081114	NM_007010.5(DDX52):c.662T>G (p.Ile221Ser)	DDX52 (I113S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081113	NM_007010.5(DDX52):c.566C>T (p.Thr189Met)	DDX52 (T81M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081112	NM_007010.5(DDX52):c.1591A>T (p.Ile531Leu)	DDX52 (I423L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081111	NM_007010.5(DDX52):c.1392G>C (p.Trp464Cys)	DDX52 (W356C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081110	NM_007010.5(DDX52):c.1109A>G (p.Asn370Ser)	DDX52 (N262S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081109	NM_007010.5(DDX52):c.1006G>C (p.Ala336Pro)	DDX52 (A228P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063498	GRCh37/hg19 17q12(chr17:34425362-36371146)x3	AATF, ACACA +23 more	Copy number gain	not specified	GPathogenic
Select item 3024382	GRCh38/hg38 17q12(chr17:36466109-37946106)	AATF, ACACA +34 more	Copy number loss	Autism spectrum disorder	GPathogenic
Select item 2684847	GRCh37/hg19 17q12(chr17:35932816-36068121)x3	DDX52, HNF1B +1 more	Copy number gain	not provided	GUncertain significance
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 2558434	NM_007010.5(DDX52):c.1076A>T (p.Asp359Val)	DDX52 (D251V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553285	NM_007010.5(DDX52):c.1031C>T (p.Ser344Phe)	DDX52 (S236F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540906	NM_007010.5(DDX52):c.388G>A (p.Gly130Arg)	DDX52 (G22R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530520	NM_007010.5(DDX52):c.1356T>G (p.Asp452Glu)	DDX52 (D452E +1 more)	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)	AATF, ACACA +41 more	Copy number gain	Anomalous pulmonary venous return	GPathogenic
Select item 2445208	Single allele	AATF, ACACA +13 more	Deletion	See cases	GLikely pathogenic
Select item 2423122	NC_000017.10:g.(?_34892951)_(36104875_?)dup	AATF, ACACA +11 more	Duplication	Hyperphosphatasia with intellectual disability syndrome 5	GUncertain significance
Select item 2384246	NM_007010.5(DDX52):c.1645C>G (p.Leu549Val)	DDX52 (L441V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380422	NM_007010.5(DDX52):c.1579G>A (p.Val527Ile)	DDX52 (V527I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354692	NM_007010.5(DDX52):c.361G>C (p.Val121Leu)	DDX52 (V121L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348530	NM_007010.5(DDX52):c.877C>A (p.Pro293Thr)	DDX52 (P293T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342976	NM_007010.5(DDX52):c.431G>A (p.Arg144Gln)	DDX52 (R36Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336709	NM_007010.5(DDX52):c.862A>C (p.Ile288Leu)	DDX52 (I288L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319999	NM_007010.5(DDX52):c.448C>T (p.His150Tyr)	DDX52 (H150Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317041	NM_007010.5(DDX52):c.1737T>A (p.Asp579Glu)	DDX52 (D471E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310532	NM_007010.5(DDX52):c.797A>G (p.His266Arg)	DDX52 (H158R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292171	NM_007010.5(DDX52):c.76G>T (p.Ala26Ser)	DDX52, LOC105371756 (A26S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2282724	NM_007010.5(DDX52):c.1061C>T (p.Ala354Val)	DDX52 (A246V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281943	NM_007010.5(DDX52):c.187C>G (p.Gln63Glu)	DDX52 (Q63E)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2255941	NM_007010.5(DDX52):c.721T>C (p.Ser241Pro)	DDX52 (S133P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236617	NM_007010.5(DDX52):c.739G>A (p.Ala247Thr)	DDX52 (A139T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219044	NM_007010.5(DDX52):c.782C>T (p.Thr261Ile)	DDX52 (T261I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209669	NM_007010.5(DDX52):c.407G>C (p.Arg136Thr)	DDX52 (R28T +1 more)	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	AATF, ACACA +11 more	Deletion	Hyperphosphatasia with intellectual disability syndrome 5	GUncertain significance
Select item 1338823	GRCh38/hg38 17q12(chr17:36719878-37889304)	AATF, ACACA +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 993894	NM_007010.5(DDX52):c.1301_1302del (p.Ile433_Tyr434insTer)	DDX52	Microsatellite (nonsense)	not provided	GUncertain significance
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 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

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