GGNBP2[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 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 1184293	Single allele	GGNBP2, MYO19 +2 more	Duplication	not provided	GUncertain significance
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 152570	GRCh38/hg38 17q12(chr17:36500215-36550767)x3	GGNBP2, MYO19 +1 more	Copy number gain	See cases	GBenign
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 2269905	NM_024835.5(GGNBP2):c.45C>A (p.Phe15Leu)	GGNBP2 (F15L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511025	NM_024835.5(GGNBP2):c.74A>G (p.Tyr25Cys)	GGNBP2 (Y25C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099611	NM_024835.5(GGNBP2):c.118G>A (p.Val40Met)	GGNBP2 (V40M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607290	NM_024835.5(GGNBP2):c.374C>T (p.Thr125Ile)	GGNBP2 (T125I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339760	NM_024835.5(GGNBP2):c.377G>A (p.Arg126Lys)	GGNBP2 (R126K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099614	NM_024835.5(GGNBP2):c.421G>A (p.Val141Ile)	GGNBP2 (V141I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099615	NM_024835.5(GGNBP2):c.429G>A (p.Gly143=)	GGNBP2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 153059	GRCh38/hg38 17q12(chr17:36566143-37808105)x3	AATF, ACACA +29 more	Copy number gain	See cases	GUncertain significance
Select item 3055826	NM_024835.5(GGNBP2):c.528-4A>G	GGNBP2	Single nucleotide variant (intron variant)	GGNBP2-related disorder	GBenign
Select item 2322275	NM_024835.5(GGNBP2):c.530G>A (p.Gly177Asp)	GGNBP2 (G177D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099617	NM_024835.5(GGNBP2):c.596C>T (p.Ser199Leu)	GGNBP2 (S199L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1343113	NM_024835.5(GGNBP2):c.769C>T (p.Arg257Ter)	GGNBP2 (R257*)	Single nucleotide variant (nonsense)	Developmental disorder	GUncertain significance
Select item 3099618	NM_024835.5(GGNBP2):c.826G>A (p.Glu276Lys)	GGNBP2 (E276K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099619	NM_024835.5(GGNBP2):c.835T>C (p.Phe279Leu)	GGNBP2 (F279L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569987	NM_024835.5(GGNBP2):c.923A>G (p.Glu308Gly)	GGNBP2 (E308G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314665	NM_024835.5(GGNBP2):c.1155T>G (p.Cys385Trp)	GGNBP2 (C385W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407711	NM_024835.5(GGNBP2):c.1171A>G (p.Thr391Ala)	GGNBP2 (T391A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2392878	NM_024835.5(GGNBP2):c.1180C>A (p.Gln394Lys)	GGNBP2 (Q394K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365229	NM_024835.5(GGNBP2):c.1187C>T (p.Ala396Val)	GGNBP2 (A396V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281312	NM_024835.5(GGNBP2):c.1225T>A (p.Phe409Ile)	GGNBP2 (F409I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099612	NM_024835.5(GGNBP2):c.1301A>G (p.Asn434Ser)	GGNBP2 (N434S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398451	NM_024835.5(GGNBP2):c.1337A>G (p.Asn446Ser)	GGNBP2 (N446S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099613	NM_024835.5(GGNBP2):c.1362G>C (p.Lys454Asn)	GGNBP2 (K454N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550033	NM_024835.5(GGNBP2):c.1582A>G (p.Thr528Ala)	GGNBP2 (T528A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059591	NM_024835.5(GGNBP2):c.1608G>A (p.Lys536=)	GGNBP2	Single nucleotide variant (synonymous variant)	GGNBP2-related disorder	GBenign
Select item 2490860	NM_024835.5(GGNBP2):c.1643T>C (p.Ile548Thr)	GGNBP2 (I548T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250224	NM_024835.5(GGNBP2):c.1682G>A (p.Arg561Gln)	GGNBP2 (R561Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281311	NM_024835.5(GGNBP2):c.1799A>G (p.His600Arg)	GGNBP2 (H600R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3049821	NM_024835.5(GGNBP2):c.1857C>T (p.Ser619=)	GGNBP2	Single nucleotide variant (synonymous variant)	GGNBP2-related disorder	GLikely benign
Select item 3048771	NM_024835.5(GGNBP2):c.2038A>C (p.Asn680His)	GGNBP2 (N680H)	Single nucleotide variant (missense variant)	GGNBP2-related disorder	GUncertain significance
Select item 2519421	NM_024835.5(GGNBP2):c.2075C>A (p.Thr692Lys)	GGNBP2 (T692K)	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 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
Select item 2580315	GRCh37/hg19 17q12(chr17:34752221-36105007)x3	AATF, ACACA +14 more	Copy number gain	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 2506537	GRCh37/hg19 17q12(chr17:34842545-36293050)	AATF, ACACA +14 more	Copy number loss	HNF1B-related disorder	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 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

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