ClinVar for Gene (Select 79154) - 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 3271796	NM_024308.4(DHRS11):c.575G>A (p.Arg192Gln)	DHRS11 (R192Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271795	NM_024308.4(DHRS11):c.379A>G (p.Ile127Val)	DHRS11 (I127V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271794	NM_024308.4(DHRS11):c.269G>A (p.Gly90Asp)	DHRS11 (G90D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271793	NM_024308.4(DHRS11):c.238A>G (p.Met80Val)	DHRS11 (M80V)	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 3082045	NM_024308.4(DHRS11):c.722G>A (p.Ser241Asn)	DHRS11 (S241N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082044	NM_024308.4(DHRS11):c.623A>G (p.Lys208Arg)	DHRS11 (K208R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082043	NM_024308.4(DHRS11):c.616G>A (p.Ala206Thr)	DHRS11 (A206T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082042	NM_024308.4(DHRS11):c.554G>A (p.Arg185Gln)	DHRS11 (R185Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082041	NM_024308.4(DHRS11):c.34C>G (p.Arg12Gly)	DHRS11 (R12G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082039	NM_024308.4(DHRS11):c.137G>A (p.Gly46Asp)	DHRS11 (G46D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082038	NM_024308.4(DHRS11):c.128G>T (p.Arg43Leu)	DHRS11 (R43L)	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 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 2548524	NM_024308.4(DHRS11):c.571A>G (p.Ile191Val)	DHRS11 (I191V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528681	NM_024308.4(DHRS11):c.376A>G (p.Ser126Gly)	DHRS11 (S126G)	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 2408570	NM_024308.4(DHRS11):c.14G>T (p.Gly5Val)	DHRS11 (G5V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404773	NM_024308.4(DHRS11):c.517G>A (p.Val173Ile)	DHRS11 (V173I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398643	NM_024308.4(DHRS11):c.232C>T (p.Leu78Phe)	DHRS11 (L78F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355734	NM_024308.4(DHRS11):c.50C>T (p.Thr17Met)	DHRS11 (T17M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300441	NM_024308.4(DHRS11):c.221A>G (p.Glu74Gly)	DHRS11 (E74G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286014	NM_024308.4(DHRS11):c.65G>A (p.Gly22Asp)	DHRS11 (G22D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275124	NM_024308.4(DHRS11):c.326G>A (p.Gly109Asp)	DHRS11 (G109D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219343	NM_024308.4(DHRS11):c.5C>G (p.Ala2Gly)	DHRS11 (A2G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208943	NM_024308.4(DHRS11):c.13G>C (p.Gly5Arg)	DHRS11 (G5R)	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 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 997067	GRCh37/hg19 17q12(chr17:34841190-35733119)	GGNBP2, LHX1 +8 more	Copy number gain	Autism with high cognitive abilities	GLikely pathogenic
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 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 583497	NC_000017.10:g.(?_34856670)_(35478412_?)del	AATF, ACACA +6 more	Deletion	Hyperphosphatasia with intellectual disability syndrome 5	GUncertain significance
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	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +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

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