ATXN8OS[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146305	GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1	LOC121466733, LOC121468000 +2048 more	Copy number loss	See cases	GPathogenic
Select item 151282	GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3	LOC130010147, LOC130010148 +2049 more	Copy number gain	See cases	GPathogenic
Select item 59851	GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3	LOC130009360, LOC130009361 +2047 more	Copy number gain	See cases	GPathogenic
Select item 59855	GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3	LOC130009909, LOC130009910 +2044 more	Copy number gain	See cases	GPathogenic
Select item 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	LINC00333, LINC00343 +2045 more	Copy number gain	See cases	GPathogenic
Select item 59858	GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3	LOC112163664, LOC112163665 +2040 more	Copy number gain	See cases	GPathogenic
Select item 154857	GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3	LOC121838573, LOC121838574 +2028 more	Copy number gain	See cases	GPathogenic
Select item 150189	GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3	URAD, USP12 +2024 more	Copy number gain	See cases	GPathogenic
Select item 144647	GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3	LINC00462, LINC00463 +2021 more	Copy number gain	See cases	GPathogenic
Select item 160881	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	ABCC4, ABHD13 +2024 more	Copy number gain	See cases	GPathogenic
Select item 59863	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	ABCC4, ABHD13 +2024 more	Copy number gain	See cases	GPathogenic
Select item 59868	GRCh38/hg38 13q12.3-31.1(chr13:30318913-83610426)x3	ACOD1, AKAP11 +1004 more	Copy number gain	See cases	GPathogenic
Select item 161028	GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3	ACOD1, AKAP11 +992 more	Copy number gain	See cases	GPathogenic
Select item 33174	GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3	ACOD1, AKAP11 +992 more	Copy number gain	See cases	GPathogenic
Select item 149289	GRCh38/hg38 13q13.1-31.1(chr13:32531486-86757044)x3	DNAJC15, EBPL +938 more	Copy number gain	See cases	GPathogenic
Select item 59888	GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3	SIAH3, SLAIN1 +1557 more	Copy number gain	See cases	GPathogenic
Select item 148828	GRCh38/hg38 13q14.11-34(chr13:40942298-114340331)x1	ABCC4, ABHD13 +1404 more	Copy number loss	See cases	GPathogenic
Select item 147318	GRCh38/hg38 13q14.11-31.1(chr13:41143820-85137552)x1	LOC130009906, LOC130009907 +733 more	Copy number loss	See cases	GPathogenic
Select item 144462	GRCh38/hg38 13q14.11-31.1(chr13:41288493-85137552)x3	LINC00561, LINC00562 +729 more	Copy number gain	See cases	GPathogenic
Select item 59893	GRCh38/hg38 13q14.11-34(chr13:44164751-114327173)x3	ABCC4, ABHD13 +1288 more	Copy number gain	See cases	GPathogenic
Select item 59896	GRCh38/hg38 13q14.12-34(chr13:44733046-114327173)x3	LINC00550, LINC00552 +1268 more	Copy number gain	See cases	GPathogenic
Select item 57227	GRCh38/hg38 13q14.12-31.3(chr13:44967523-92738168)x1	ACOD1, ALG11 +657 more	Copy number loss	See cases	GPathogenic
Select item 545122	NC_000013.11:g.46968080_87381985del40413906	ACOD1, ALG11 +530 more	Deletion	Chromosome 13q14 deletion syndrome	GPathogenic
Select item 147464	GRCh38/hg38 13q14.2-31.1(chr13:47117587-84300935)x1	ACOD1, ALG11 +513 more	Copy number loss	See cases	GPathogenic
Select item 145617	GRCh38/hg38 13q21.2-31.1(chr13:60536344-84553188)x1	ACOD1, ATXN8OS +258 more	Copy number loss	See cases	GPathogenic
Select item 152961	GRCh38/hg38 13q21.31-31.1(chr13:63713365-79638415)x1	ACOD1, ATXN8OS +202 more	Copy number loss	See cases	GPathogenic
Select item 150124	GRCh38/hg38 13q21.31-22.1(chr13:64065900-73693578)x3	ATXN8OS, BORA +70 more	Copy number gain	See cases	GPathogenic
Select item 153172	GRCh38/hg38 13q21.32-21.33(chr13:66118423-70884392)x3	ATXN8OS, KLHL1 +23 more	Copy number gain	See cases	GUncertain significance
Select item 145515	GRCh38/hg38 13q21.32-31.2(chr13:66320998-87855429)x1	LOC130009900, LOC130009901 +232 more	Copy number loss	See cases	GPathogenic
Select item 58261	GRCh38/hg38 13q21.33(chr13:69819548-70590191)x3	ATXN8OS, KLHL1 +2 more	Copy number gain	See cases	GUncertain significance
Select item 58147	GRCh38/hg38 13q21.33(chr13:69936164-70206329)x1	ATXN8OS, KLHL1 +2 more	Copy number loss	See cases	GUncertain significance
Select item 146033	GRCh38/hg38 13q21.33(chr13:69948741-70206270)x1	ATXN8OS, KLHL1 +2 more	Copy number loss	See cases	GUncertain significance
Select item 153837	GRCh38/hg38 13q21.33(chr13:70005620-71038635)x3	ATXN8OS, KLHL1 +6 more	Copy number gain	See cases	GLikely benign
Select item 3115465	NM_020866.3(KLHL1):c.245C>G (p.Pro82Arg)	ATXN8OS, KLHL1 (P82R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115464	NM_020866.3(KLHL1):c.244C>T (p.Pro82Ser)	ATXN8OS, KLHL1 (P82S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115463	NM_020866.3(KLHL1):c.238T>C (p.Ser80Pro)	ATXN8OS, KLHL1 (S80P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2325907	NM_020866.3(KLHL1):c.235T>G (p.Ser79Ala)	ATXN8OS, KLHL1 (S79A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059673	NM_020866.3(KLHL1):c.234A>G (p.Ser78=)	ATXN8OS, KLHL1	Single nucleotide variant (synonymous variant +1 more)	KLHL1-related condition	GBenign
Select item 3039641	NM_020866.3(KLHL1):c.183G>C (p.Glu61Asp)	ATXN8OS, KLHL1 (E61D)	Single nucleotide variant (missense variant +1 more)	KLHL1-related condition	GBenign
Select item 3115459	NM_020866.3(KLHL1):c.155G>A (p.Ser52Asn)	ATXN8OS, KLHL1 (S52N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1176326	NM_020866.3(KLHL1):c.99G>A (p.Ala33=)	ATXN8OS, KLHL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2320535	NM_020866.3(KLHL1):c.95C>T (p.Pro32Leu)	ATXN8OS, KLHL1 (P32L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3052204	NM_020866.3(KLHL1):c.91G>T (p.Gly31Cys)	ATXN8OS, KLHL1 (G31C)	Single nucleotide variant (missense variant +1 more)	KLHL1-related condition	GLikely benign
Select item 2569682	NM_020866.3(KLHL1):c.88G>A (p.Gly30Ser)	ATXN8OS, KLHL1 (G30S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3039726	NM_020866.3(KLHL1):c.87C>G (p.Thr29=)	ATXN8OS, KLHL1	Single nucleotide variant (synonymous variant +1 more)	KLHL1-related condition	GLikely benign
Select item 2622259	NM_020866.3(KLHL1):c.86C>T (p.Thr29Ile)	ATXN8OS, KLHL1 (T29I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2367633	NM_020866.3(KLHL1):c.11C>G (p.Ser4Cys)	ATXN8OS, KLHL1 (S4C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3036741	NR_002717.2(ATXN8OS):n.856C>T	ATXN8OS	Single nucleotide variant (non-coding transcript variant)	ATXN8OS-related condition	GLikely benign
Select item 2643840	NR_185841.1(ATXN8OS):n.816C>T	ATXN8OS	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign
Select item 3036411	NR_002717.2(ATXN8OS):n.966T>C	ATXN8OS	Single nucleotide variant (non-coding transcript variant)	ATXN8OS-related condition	GLikely benign
Select item 3038111	NR_002717.2(ATXN8OS):n.1013G>A	ATXN8OS	Single nucleotide variant (non-coding transcript variant)	ATXN8OS-related condition	GLikely benign
Select item 3039106	NR_002717.2(ATXN8OS):n.1099_1116del18	ATXN8OS, LOC109461478	Deletion (non-coding transcript variant)	ATXN8OS-related condition	GBenign
Select item 192	NR_002717.2(ATXN8OS):n.1103CTG[15_40]	ATXN8, ATXN8OS +1 more	Microsatellite	Spinocerebellar ataxia type 8	GBenign
Select item 3037996	NR_002717.2(ATXN8OS):n.1108G>A	ATXN8OS, LOC109461478	Single nucleotide variant (non-coding transcript variant)	ATXN8OS-related condition	GBenign
Select item 3055690	NR_002717.2(ATXN8OS):n.1109_1110delCT	ATXN8OS, LOC109461478	Deletion (non-coding transcript variant)	ATXN8OS-related condition	GBenign
Select item 3059813	NR_002717.2(ATXN8OS):n.1111G>A	ATXN8OS, LOC109461478	Single nucleotide variant (non-coding transcript variant)	ATXN8OS-related condition	GBenign
Select item 3045936	NR_002717.2(ATXN8OS):n.1155T>A	ATXN8OS	Single nucleotide variant (non-coding transcript variant)	ATXN8OS-related condition	GLikely benign
Select item 3056715	NR_002717.2(ATXN8OS):n.1212C>T	ATXN8OS	Single nucleotide variant (non-coding transcript variant)	ATXN8OS-related condition	GBenign
Select item 3057207	NR_002717.2(ATXN8OS):n.1464A>G	ATXN8OS	Single nucleotide variant (non-coding transcript variant)	ATXN8OS-related condition	GLikely benign
Select item 2643841	NR_185838.1(ATXN8OS):n.983T>C	ATXN8OS	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign
Select item 2643842	NR_185838.1(ATXN8OS):n.1114G>A	ATXN8OS	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign
Select item 157283	Single allele	ATXN8OS	Deletion	Normal pregnancy	Gnot provided
Select item 3063304	GRCh37/hg19 13q21.32-21.33(chr13:68064270-71592222)x3	ATXN8OS, KLHL1	Copy number gain	not specified	GUncertain significance
Select item 3063284	GRCh37/hg19 13q21.1-31.3(chr13:56450978-93582180)x1	ACOD1, ATXN8OS +49 more	Copy number loss	not specified	GPathogenic
Select item 3063280	GRCh37/hg19 13q21.31-33.1(chr13:64825656-103641349)x1	ABCC4, ACOD1 +81 more	Copy number loss	not specified	GPathogenic
Select item 3063279	GRCh37/hg19 13q14.2-32.2(chr13:49547974-98214905)x1	ABCC4, ACOD1 +102 more	Copy number loss	not specified	GPathogenic
Select item 2684703	GRCh37/hg19 13q21.2-34(chr13:61534068-115107733)x3	ABCC4, ABHD13 +129 more	Copy number gain	not provided	GPathogenic
Select item 1710518	GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3	CCDC169-SOHLH2, CCDC70 +332 more	Copy number gain	not provided	GPathogenic
Select item 1703573	GRCh37/hg19 13p13-q34(chr13:1-115169878)	PCID2, PCOTH +332 more	Copy number gain	Complete trisomy 13 syndrome	GPathogenic
Select item 1527780	GRCh37/hg19 13q21.33-22.1(chr13:69200998-75160653)	ATXN8OS, BORA +9 more	Copy number loss	not specified	GUncertain significance
Select item 1527778	GRCh37/hg19 13q21.2-31.1(chr13:61686543-83302092)	ACOD1, ATXN8OS +29 more	Copy number loss	not specified	GPathogenic
Select item 1527777	GRCh37/hg19 13q21.2-34(chr13:61424168-115107733)	ABCC4, ABHD13 +129 more	Copy number gain	not specified	GPathogenic
Select item 1527771	GRCh37/hg19 13q14.11-31.3(chr13:42457841-91796698)	ACOD1, AKAP11 +120 more	Copy number loss	not specified	GPathogenic
Select item 1527766	GRCh37/hg19 13q13.3-31.1(chr13:36376204-80681753)	CLN5, CNMD +147 more	Copy number loss	not specified	GPathogenic
Select item 1527750	GRCh37/hg19 13q11-34(chr13:19436286-115107733)	ABCC4, DNAJC15 +332 more	Copy number gain	not specified	GPathogenic
Select item 1527749	GRCh37/hg19 13q11-34(chr13:19436286-114981726)	ZMYM5, SPATA13 +329 more	Copy number gain	not specified	GPathogenic
Select item 1341277	GRCh37/hg19 13q14.11-33.3(chr13:42504540-108206269)x3	DCT, DGKH +175 more	Copy number gain	not provided	GPathogenic
Select item 1341081	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ARGLU1, FBXL3 +332 more	Copy number gain	not provided	GPathogenic
Select item 1341055	GRCh37/hg19 13q21.1-31.2(chr13:59574760-89410027)x1	ACOD1, ATXN8OS +35 more	Copy number loss	not provided	GPathogenic
Select item 1340297	GRCh37/hg19 13q21.33(chr13:70491587-70782030)x1	ATXN8OS, KLHL1	Copy number loss	not provided	GUncertain significance
Select item 1321996	GRCh37/hg19 13p13-q34(chr13:1-115169878)x3	MRPL57, MRPS31 +332 more	Copy number gain	See cases	GPathogenic
Select item 1048617	GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3	DGKH, DHRS12 +332 more	Copy number gain	See cases	GPathogenic
Select item 979378	GRCh37/hg19 13q21.33(chr13:70413831-70716299)x1	ATXN8OS, KLHL1	Copy number loss	not provided	GUncertain significance
Select item 979376	GRCh37/hg19 13q21.32-21.33(chr13:68057602-71591979)x3	ATXN8OS, KLHL1	Copy number gain	not provided	GUncertain significance
Select item 816480	GRCh37/hg19 13q21.1-22.1(chr13:58432035-73649333)x3	ATXN8OS, BORA +10 more	Copy number gain	See cases	GUncertain significance
Select item 815599	GRCh37/hg19 13q21.33(chr13:70661217-71473984)x3	ATXN8OS, KLHL1	Copy number gain	not provided	GUncertain significance
Select item 815598	GRCh37/hg19 13q21.33(chr13:70582077-70860305)x3	ATXN8OS, KLHL1	Copy number gain	not provided	GUncertain significance
Select item 815590	GRCh37/hg19 13q14.3-34(chr13:53262013-115107733)x1	ABCC4, ABHD13 +142 more	Copy number loss	not provided	GPathogenic
Select item 815587	GRCh37/hg19 13q14.3-31.3(chr13:51512603-91631111)x1	KLF5, KLHL1 +62 more	Copy number loss	not provided	GPathogenic
Select item 689286	GRCh37/hg19 13q21.33(chr13:70582007-71601997)x3	ATXN8OS, KLHL1	Copy number gain	not provided	GUncertain significance
Select item 688438	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	not provided	GPathogenic
Select item 688265	GRCh37/hg19 13q21.32-21.33(chr13:68155074-72073076)x1	ATXN8OS, DACH1 +1 more	Copy number loss	not provided	GUncertain significance
Select item 687326	GRCh37/hg19 13q21.2-34(chr13:61775567-115107733)x3	ABCC4, ABHD13 +129 more	Copy number gain	not provided	GPathogenic
Select item 685211	GRCh37/hg19 13q21.33(chr13:70607071-70705524)x1	ATXN8OS, KLHL1	Copy number loss	not provided	GUncertain significance
Select item 564083	GRCh37/hg19 13q11-22.1(chr13:19436286-74045459)x3	AKAP11, ALG11 +211 more	Copy number gain	not provided	GPathogenic
Select item 564072	GRCh37/hg19 13q21.32-21.33(chr13:66407739-70705524)x3	ATXN8OS, KLHL1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 564070	GRCh37/hg19 13q21.32-21.33(chr13:68171169-70951761)x1	ATXN8OS, KLHL1	Copy number loss	not provided	GUncertain significance
Select item 564056	GRCh37/hg19 13q21.33(chr13:70450871-71676137)x3	ATXN8OS, KLHL1	Copy number gain	not provided	GUncertain significance
Select item 443522	GRCh37/hg19 13q14.3-32.1(chr13:53932358-96586363)x3	ABCC4, ACOD1 +60 more	Copy number gain	See cases	GPathogenic
Select item 442796	GRCh37/hg19 13q21.1-34(chr13:56431743-115107733)	ABCC4, ABHD13 +137 more	Copy number gain	See cases	GPathogenic

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