ClinVar for Gene (Select 26574) - 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 3265639	NM_012138.4(AATF):c.256T>G (p.Trp86Gly)	AATF (W86G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265527	NM_012138.4(AATF):c.991A>C (p.Lys331Gln)	AATF (K331Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265451	NM_012138.4(AATF):c.1447G>A (p.Asp483Asn)	AATF (D483N)	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 3144809	NM_012138.4(AATF):c.920T>G (p.Val307Gly)	AATF (V307G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144732	NM_012138.4(AATF):c.733C>G (p.Gln245Glu)	AATF (Q245E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144679	NM_012138.4(AATF):c.642T>A (p.Ser214Arg)	AATF (S214R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144599	NM_012138.4(AATF):c.551A>G (p.Asp184Gly)	AATF (D184G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144478	NM_012138.4(AATF):c.490A>G (p.Met164Val)	AATF (M164V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144265	NM_012138.4(AATF):c.200C>T (p.Thr67Met)	AATF (T67M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144143	NM_012138.4(AATF):c.1499A>T (p.Lys500Ile)	AATF (K500I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144064	NM_012138.4(AATF):c.1311A>C (p.Glu437Asp)	AATF (E437D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143989	NM_012138.4(AATF):c.1240C>T (p.Arg414Cys)	AATF (R414C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143796	NM_012138.4(AATF):c.1043A>G (p.Tyr348Cys)	AATF (Y348C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143690	NM_012138.4(AATF):c.1004G>C (p.Arg335Thr)	AATF (R335T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063508	GRCh37/hg19 17q12(chr17:35010975-35932571)x3	AATF, ACACA +5 more	Copy number gain	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 2623639	NM_012138.4(AATF):c.150C>G (p.Phe50Leu)	AATF (F50L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603639	NM_012138.4(AATF):c.1253G>A (p.Arg418Gln)	AATF (R418Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591116	NM_012138.4(AATF):c.1039G>A (p.Asp347Asn)	AATF (D347N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2569881	NM_012138.4(AATF):c.806C>T (p.Pro269Leu)	AATF (P269L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543311	NM_012138.4(AATF):c.1421G>A (p.Arg474Gln)	AATF (R474Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518270	NM_012138.4(AATF):c.20T>C (p.Leu7Pro)	AATF (L7P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509186	NM_012138.4(AATF):c.941C>T (p.Ala314Val)	AATF (A314V)	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 2496206	NM_012138.4(AATF):c.264G>C (p.Gln88His)	AATF (Q88H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492279	NM_012138.4(AATF):c.1009G>A (p.Val337Ile)	AATF (V337I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492210	NM_012138.4(AATF):c.1088G>C (p.Arg363Thr)	AATF (R363T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484293	NM_012138.4(AATF):c.1306G>A (p.Gly436Arg)	AATF (G436R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2385778	NM_012138.4(AATF):c.533G>A (p.Ser178Asn)	AATF (S178N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382379	NM_012138.4(AATF):c.1001G>A (p.Arg334Gln)	AATF (R334Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364338	NM_012138.4(AATF):c.524A>G (p.Asp175Gly)	AATF (D175G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357986	NM_012138.4(AATF):c.1117A>G (p.Lys373Glu)	AATF (K373E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351259	NM_012138.4(AATF):c.1235C>G (p.Thr412Ser)	AATF (T412S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351010	NM_012138.4(AATF):c.361G>A (p.Asp121Asn)	AATF (D121N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337730	NM_012138.4(AATF):c.985G>A (p.Glu329Lys)	AATF (E329K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337729	NM_012138.4(AATF):c.1580T>C (p.Met527Thr)	AATF (M527T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334875	NM_012138.4(AATF):c.61G>C (p.Glu21Gln)	AATF (E21Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315908	NM_012138.4(AATF):c.1126C>G (p.Leu376Val)	AATF (L376V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313446	NM_012138.4(AATF):c.1625A>G (p.Glu542Gly)	AATF (E518G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296479	NM_012138.4(AATF):c.44T>G (p.Leu15Trp)	AATF (L15W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283663	NM_012138.4(AATF):c.617A>G (p.Asp206Gly)	AATF (D206G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276534	NM_012138.4(AATF):c.1346A>G (p.His449Arg)	AATF (H449R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267108	NM_012138.4(AATF):c.1063C>T (p.Arg355Cys)	AATF (R355C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263978	NM_012138.4(AATF):c.740C>T (p.Ala247Val)	AATF (A247V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262826	NM_012138.4(AATF):c.356A>T (p.Glu119Val)	AATF (E119V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258627	NM_012138.4(AATF):c.332G>A (p.Gly111Glu)	AATF (G111E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247645	NM_012138.4(AATF):c.5C>G (p.Ala2Gly)	AATF (A2G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235746	NM_012138.4(AATF):c.71C>T (p.Pro24Leu)	AATF (P24L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225962	NM_012138.4(AATF):c.526G>A (p.Glu176Lys)	AATF (E176K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211359	NM_012138.4(AATF):c.1666G>C (p.Glu556Gln)	AATF (E532Q +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 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 815930	GRCh37/hg19 17q12(chr17:35258617-35825367)x3	AATF, ACACA +3 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 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

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