AATF[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58166	GRCh37/hg19 17q12(chr17:34310998-36297053)x3	AATF, ACACA +48 more	Copy number gain	See cases	GPathogenic
Select item 151517	GRCh37/hg19 17q12(chr17:34360168-36248859)x1	AATF, ACACA +44 more	Copy number loss	See cases	GPathogenic
Select item 58167	GRCh37/hg19 17q12(chr17:34360168-36209228)x3	AATF, ACACA +44 more	Copy number gain	See cases	GPathogenic
Select item 153446	GRCh37/hg19 17q12(chr17:34437482-36244358)x3	AATF, ACACA +39 more	Copy number gain	See cases	GLikely pathogenic
Select item 160929	GRCh37/hg19 17q12(chr17:34508117-36248918)x3	AATF, ACACA +39 more	Copy number gain	See cases	GPathogenic
Select item 60470	GRCh37/hg19 17q12(chr17:34508117-36173763)x1	AATF, ACACA +38 more	Copy number loss	See cases	GPathogenic
Select item 32504	GRCh37/hg19 17q12(chr17:34508117-36248918)x3	AATF, ACACA +39 more	Copy number gain	See cases	GPathogenic
Select item 155596	GRCh37/hg19 17q12(chr17:34822465-36283612)x3	AATF, ACACA +29 more	Copy number gain	See cases	GLikely pathogenic
Select item 154005	GRCh37/hg19 17q12(chr17:34822465-36283807)x1	AATF, ACACA +29 more	Copy number loss	See cases	GPathogenic
Select item 153885	GRCh37/hg19 17q12(chr17:34822466-36316161)x1	AATF, ACACA +30 more	Copy number loss	See cases	GPathogenic
Select item 153855	GRCh37/hg19 17q12(chr17:34822466-36283612)x1	AATF, ACACA +29 more	Copy number loss	See cases	GPathogenic
Select item 153818	GRCh37/hg19 17q12(chr17:34822465-36350005)x3	AATF, ACACA +31 more	Copy number gain	See cases	GLikely pathogenic
Select item 153746	GRCh37/hg19 17q12(chr17:34822466-36307773)x1	AATF, ACACA +30 more	Copy number loss	See cases	GPathogenic
Select item 153717	GRCh37/hg19 17q12(chr17:34822466-36393628)x1	AATF, ACACA +31 more	Copy number loss	See cases	GPathogenic
Select item 152579	GRCh37/hg19 17q12(chr17:34856055-36248859)x3	AATF, ACACA +29 more	Copy number gain	See cases	GPathogenic
Select item 148852	GRCh37/hg19 17q12(chr17:34817422-36188700)x1	AATF, ACACA +29 more	Copy number loss	See cases	GPathogenic
Select item 60477	GRCh37/hg19 17q12(chr17:34899836-36224189)x1	AATF, ACACA +29 more	Copy number loss	See cases	GPathogenic
Select item 60474	GRCh37/hg19 17q12(chr17:34851537-36173763)x1	AATF, ACACA +28 more	Copy number loss	See cases	GPathogenic
Select item 60472	GRCh37/hg19 17q12(chr17:34817422-36168104)x1	AATF, ACACA +28 more	Copy number loss	See cases	GPathogenic
Select item 58169	GRCh37/hg19 17q12(chr17:34817422-36173763)x3	AATF, ACACA +28 more	Copy number gain	See cases	GPathogenic
Select item 58168	GRCh37/hg19 17q12(chr17:34815184-36209228)x3	AATF, ACACA +29 more	Copy number gain	See cases	GPathogenic
Select item 57515	GRCh37/hg19 17q12(chr17:34899836-36177728)x1	AATF, ACACA +28 more	Copy number loss	See cases	GPathogenic
Select item 144685	GRCh37/hg19 17q12(chr17:35076189-36248926)x1	AATF, ACACA +25 more	Copy number loss	See cases	GPathogenic
Select item 2499653	GRCh38/hg38 17q12(chr17:36138501-37924067)	AATF, ACACA +41 more	Copy number gain	Anomalous pulmonary venous return	GPathogenic
Select item 545219	NC_000017.11:g.(?_36143765)_(37995300_?)del	AATF, ACACA +42 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 161041	GRCh38/hg38 17q12(chr17:36357258-37889296)x1	AATF, ACACA +35 more	Copy number loss	See cases	GPathogenic
Select item 160879	GRCh38/hg38 17q12(chr17:36357258-37889296)x3	AATF, ACACA +35 more	Copy number gain	See cases	GPathogenic
Select item 149866	GRCh38/hg38 17q12(chr17:36357258-38225796)x3	AATF, ACACA +41 more	Copy number gain	See cases	GLikely pathogenic
Select item 57382	GRCh38/hg38 17q12(chr17:36357258-37889296)x1	AATF, ACACA +35 more	Copy number loss	See cases	GPathogenic
Select item 60471	GRCh38/hg38 17q12(chr17:36422657-37890225)x1	AATF, ACACA +34 more	Copy number loss	See cases	GPathogenic
Select item 545222	NC_000017.11:g.(?_36446252)_(37887875_?)del	AATF, ACACA +33 more	Deletion	Autism	GPathogenic
Select item 148853	GRCh38/hg38 17q12(chr17:36446545-38225796)x1	AATF, ACACA +39 more	Copy number loss	See cases	GPathogenic
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 149614	GRCh38/hg38 17q12(chr17:36461608-37889296)x3	AATF, ACACA +33 more	Copy number gain	See cases	GLikely pathogenic
Select item 3024382	GRCh38/hg38 17q12(chr17:36466109-37946106)	LOC110120863, LOC112529910 +34 more	Copy number loss	Autism spectrum disorder	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 60473	GRCh38/hg38 17q12(chr17:36493974-37890225)x1	AATF, ACACA +33 more	Copy number loss	See cases	GPathogenic
Select item 160874	GRCh38/hg38 17q12(chr17:36500215-37889296)x1	AATF, ACACA +32 more	Copy number loss	See cases	GPathogenic
Select item 32491	GRCh38/hg38 17q12(chr17:36500215-37889296)x3	ACACA, C17orf78 +32 more	Copy number gain	See cases	GPathogenic
Select item 149644	GRCh38/hg38 17q12(chr17:36500465-37889304)x1	AATF, ACACA +32 more	Copy number loss	See cases	GPathogenic
Select item 153059	GRCh38/hg38 17q12(chr17:36566143-37808105)x3	AATF, ACACA +29 more	Copy number gain	See cases	GUncertain significance
Select item 1338823	GRCh38/hg38 17q12(chr17:36719878-37889304)	AATF, ACACA +25 more	Copy number loss	Diaphragmatic eventration	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 2518270	NM_012138.4(AATF):c.20T>C (p.Leu7Pro)	AATF (L7P)	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 2334875	NM_012138.4(AATF):c.61G>C (p.Glu21Gln)	AATF (E21Q)	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 2623639	NM_012138.4(AATF):c.150C>G (p.Phe50Leu)	AATF (F50L)	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 3265639	NM_012138.4(AATF):c.256T>G (p.Trp86Gly)	AATF (W86G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2258627	NM_012138.4(AATF):c.332G>A (p.Gly111Glu)	AATF (G111E)	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 2351010	NM_012138.4(AATF):c.361G>A (p.Asp121Asn)	AATF (D121N)	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 2364338	NM_012138.4(AATF):c.524A>G (p.Asp175Gly)	AATF (D175G)	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 2385778	NM_012138.4(AATF):c.533G>A (p.Ser178Asn)	AATF (S178N)	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 2283663	NM_012138.4(AATF):c.617A>G (p.Asp206Gly)	AATF (D206G)	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 3144732	NM_012138.4(AATF):c.733C>G (p.Gln245Glu)	AATF (Q245E)	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 2569881	NM_012138.4(AATF):c.806C>T (p.Pro269Leu)	AATF (P269L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2509186	NM_012138.4(AATF):c.941C>T (p.Ala314Val)	AATF (A314V)	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 3265527	NM_012138.4(AATF):c.991A>C (p.Lys331Gln)	AATF (K331Q)	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 3143690	NM_012138.4(AATF):c.1004G>C (p.Arg335Thr)	AATF (R335T)	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 2591116	NM_012138.4(AATF):c.1039G>A (p.Asp347Asn)	AATF (D347N)	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 2267108	NM_012138.4(AATF):c.1063C>T (p.Arg355Cys)	AATF (R355C)	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 2357986	NM_012138.4(AATF):c.1117A>G (p.Lys373Glu)	AATF (K373E)	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 2351259	NM_012138.4(AATF):c.1235C>G (p.Thr412Ser)	AATF (T412S)	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 2603639	NM_012138.4(AATF):c.1253G>A (p.Arg418Gln)	AATF (R418Q)	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 3144064	NM_012138.4(AATF):c.1311A>C (p.Glu437Asp)	AATF (E437D)	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 2543311	NM_012138.4(AATF):c.1421G>A (p.Arg474Gln)	AATF (R474Q)	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 3144143	NM_012138.4(AATF):c.1499A>T (p.Lys500Ile)	AATF (K500I)	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 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 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 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 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 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 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

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