11340[geneid] - 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	ATP8A2, ATXN8OS +2049 more	Copy number loss	See cases	GPathogenic
Select item 151282	GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3	LOC130009892, LOC130009893 +2050 more	Copy number gain	See cases	GPathogenic
Select item 59851	GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3	LOC130009819, LOC130009820 +2048 more	Copy number gain	See cases	GPathogenic
Select item 59853	GRCh38/hg38 13q11-13.3(chr13:18676442-37656039)x3	LOC130009419, LOC130009420 +567 more	Copy number gain	See cases	GPathogenic
Select item 59855	GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3	ABCC4, ABHD13 +2045 more	Copy number gain	See cases	GPathogenic
Select item 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	ABCC4, ABHD13 +2046 more	Copy number gain	See cases	GPathogenic
Select item 59858	GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3	LOC130009309, LOC130009310 +2041 more	Copy number gain	See cases	GPathogenic
Select item 154857	GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3	LOC130009607, LOC130009608 +2029 more	Copy number gain	See cases	GPathogenic
Select item 148827	GRCh38/hg38 13q12.11-14.11(chr13:19671934-40914767)x3	LOC132090185, LOC132090186 +621 more	Copy number gain	See cases	GPathogenic
Select item 150189	GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3	ABCC4, ABHD13 +2025 more	Copy number gain	See cases	GPathogenic
Select item 144647	GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3	LOC130009383, LOC130009384 +2022 more	Copy number gain	See cases	GPathogenic
Select item 160881	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC126861859, LOC126861860 +2025 more	Copy number gain	See cases	GPathogenic
Select item 59863	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC112163664, LOC112163665 +2025 more	Copy number gain	See cases	GPathogenic
Select item 150360	GRCh38/hg38 13q12.3-13.3(chr13:30313809-39267681)x1	ALG5, ALOX5AP +214 more	Copy number loss	See cases	GPathogenic
Select item 59868	GRCh38/hg38 13q12.3-31.1(chr13:30318913-83610426)x3	LOC130009567, LOC130009568 +1005 more	Copy number gain	See cases	GPathogenic
Select item 57638	GRCh38/hg38 13q12.3-21.33(chr13:30697728-69471973)x1	LOC130009620, LOC130009621 +781 more	Copy number loss	See cases	GPathogenic
Select item 149761	GRCh38/hg38 13q12.3-14.2(chr13:31018160-48491204)x1	AKAP11, ALG5 +485 more	Copy number loss	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 146536	GRCh38/hg38 13q12.3-21.32(chr13:31553608-65470367)x3	LOC130009600, LOC130009601 +735 more	Copy number gain	See cases	GPathogenic
Select item 149289	GRCh38/hg38 13q13.1-31.1(chr13:32531486-86757044)x3	LOC130009611, LOC130009612 +938 more	Copy number gain	See cases	GPathogenic
Select item 59888	GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3	LOC130009687, LOC130009688 +1557 more	Copy number gain	See cases	GPathogenic
Select item 57640	GRCh38/hg38 13q13.3-14.11(chr13:35232476-41375955)x1	ALG5, CCDC169 +146 more	Copy number loss	See cases	GPathogenic
Select item 144214	GRCh38/hg38 13q13.3-21.31(chr13:36777318-62955876)x1	LINC00400, LINC02333 +604 more	Copy number loss	See cases	GPathogenic
Select item 1238926	NC_000013.11:g.37000341T>C	EXOSC8	Single nucleotide variant	not provided	GBenign
Select item 1295035	NC_000013.11:g.37000363del	EXOSC8	Deletion	not provided	GBenign
Select item 1275077	NC_000013.11:g.37000362_37000363del	EXOSC8	Deletion	not provided	GBenign
Select item 1243101	NC_000013.11:g.37000544C>T	EXOSC8, LOC130009580	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 1259426	NC_000013.11:g.37000571G>A	EXOSC8, LOC130009580	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 1290588	NC_000013.11:g.37000577C>T	EXOSC8, LOC130009580	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 1312897	NM_181503.3(EXOSC8):c.2T>G (p.Met1Arg)	EXOSC8 (M1R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 157609	NM_181503.3(EXOSC8):c.5C>T (p.Ala2Val)	EXOSC8 (A2V)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia, type 1C	GPathogenic
Select item 2328413	NM_181503.3(EXOSC8):c.7G>T (p.Ala3Ser)	EXOSC8 (A3S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 755856	NM_181503.3(EXOSC8):c.9T>G (p.Ala3=)	EXOSC8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1175846	NM_181503.3(EXOSC8):c.11G>C (p.Gly4Ala)	EXOSC8, LOC130009581 (G4A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1027899	NM_181503.3(EXOSC8):c.13T>C (p.Phe5Leu)	EXOSC8, LOC130009581 (F5L)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia, type 1C +2 more	GConflicting classifications of pathogenicity
Select item 3276847	NM_181503.3(EXOSC8):c.15C>G (p.Phe5Leu)	EXOSC8, LOC130009581 (F5L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 813914	NM_181503.3(EXOSC8):c.17+1G>T	EXOSC8, LOC130009581	Single nucleotide variant (splice donor variant)	Pontocerebellar hypoplasia, type 1C	GUncertain significance
Select item 3242109	NM_181503.3(EXOSC8):c.17+5del	EXOSC8, LOC130009581	Deletion (intron variant)	Pontocerebellar hypoplasia, type 1C	GUncertain significance
Select item 1921827	NM_181503.3(EXOSC8):c.17+7G>A	EXOSC8, LOC130009581	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 712129	NM_181503.3(EXOSC8):c.17+8T>C	EXOSC8, LOC130009581	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3352408	NM_181503.3(EXOSC8):c.21C>T (p.Thr7=)	EXOSC8	Single nucleotide variant (synonymous variant)	EXOSC8-related disorder	GLikely benign
Select item 2808798	NM_181503.3(EXOSC8):c.28C>T (p.Pro10Ser)	EXOSC8 (P10S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2171435	NM_181503.3(EXOSC8):c.45_47del (p.Arg16del)	EXOSC8 (R16del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1914281	NM_181503.3(EXOSC8):c.54+15_54+16insATAA	EXOSC8	Insertion (intron variant)	not provided	GLikely benign
Select item 1897696	NM_181503.3(EXOSC8):c.54+20A>G	EXOSC8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 235309	NM_181503.3(EXOSC8):c.55-10_55-9del	EXOSC8	Microsatellite (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 870726	NM_181503.3(EXOSC8):c.89_91del (p.Gly30del)	EXOSC8 (G30del)	Deletion (inframe_deletion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3091223	NM_181503.3(EXOSC8):c.104C>T (p.Thr35Ile)	EXOSC8 (T35I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785445	NM_181503.3(EXOSC8):c.118+7A>T	EXOSC8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1990024	NM_181503.3(EXOSC8):c.118+11A>G	EXOSC8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2189873	NM_181503.3(EXOSC8):c.133G>A (p.Ala45Thr)	EXOSC8 (A45T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2232172	NM_181503.3(EXOSC8):c.166A>G (p.Thr56Ala)	EXOSC8 (T56A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1928355	NM_181503.3(EXOSC8):c.169A>G (p.Thr57Ala)	EXOSC8 (T57A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3354480	NM_181503.3(EXOSC8):c.192+1G>A	EXOSC8	Single nucleotide variant (splice donor variant)	EXOSC8-related disorder	GUncertain significance
Select item 1931846	NM_181503.3(EXOSC8):c.192+5G>C	EXOSC8	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2723355	NM_181503.3(EXOSC8):c.192+8dup	EXOSC8	Duplication (intron variant)	not provided	GLikely benign
Select item 1223887	NM_181503.3(EXOSC8):c.193-83A>C	EXOSC8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1926056	NM_181503.3(EXOSC8):c.193-15T>C	EXOSC8	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2995779	NM_181503.3(EXOSC8):c.207A>G (p.Pro69=)	EXOSC8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1904238	NM_181503.3(EXOSC8):c.211A>G (p.Thr71Ala)	EXOSC8 (T71A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2794334	NM_181503.3(EXOSC8):c.216T>A (p.Asp72Glu)	EXOSC8 (D72E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1975659	NM_181503.3(EXOSC8):c.224A>T (p.Asp75Val)	EXOSC8 (D75V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1920275	NM_181503.3(EXOSC8):c.234C>T (p.Tyr78=)	EXOSC8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2985092	NM_181503.3(EXOSC8):c.236T>C (p.Val79Ala)	EXOSC8 (V79A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1269808	NM_181503.3(EXOSC8):c.239-35dup	EXOSC8	Duplication (intron variant)	not provided	GBenign
Select item 1991130	NM_181503.3(EXOSC8):c.239-19T>C	EXOSC8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2441309	NM_181503.3(EXOSC8):c.241C>T (p.Pro81Ser)	EXOSC8 (P81S)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia, type 1C	GUncertain significance
Select item 2015023	NM_181503.3(EXOSC8):c.244A>G (p.Asn82Asp)	EXOSC8 (N82D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2016761	NM_181503.3(EXOSC8):c.251A>G (p.Asp84Gly)	EXOSC8 (D84G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2016828	NM_181503.3(EXOSC8):c.260C>A (p.Pro87His)	EXOSC8 (P87H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1939081	NM_181503.3(EXOSC8):c.263T>C (p.Leu88Pro)	EXOSC8 (L88P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2918014	NM_181503.3(EXOSC8):c.266G>A (p.Cys89Tyr)	EXOSC8 (C89Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1027469	NM_181503.3(EXOSC8):c.269C>G (p.Ser90Ter)	EXOSC8 (S90*)	Single nucleotide variant (nonsense)	Spastic ataxia	GPathogenic
Select item 708441	NM_181503.3(EXOSC8):c.272C>T (p.Ser91Leu)	EXOSC8 (S91L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2022521	NM_181503.3(EXOSC8):c.281G>A (p.Arg94Gln)	EXOSC8 (R94Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2134850	NM_181503.3(EXOSC8):c.309A>G (p.Gln103=)	EXOSC8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2023100	NM_181503.3(EXOSC8):c.316A>C (p.Ser106Arg)	EXOSC8 (S106R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 802960	NM_181503.3(EXOSC8):c.321G>A (p.Gln107=)	EXOSC8	Single nucleotide variant (synonymous variant)	Pontocerebellar hypoplasia, type 1C +1 more	GBenign
Select item 1920946	NM_181503.3(EXOSC8):c.327T>A (p.Ile109=)	EXOSC8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1900538	NM_181503.3(EXOSC8):c.345-12C>T	EXOSC8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 807005	NM_181503.3(EXOSC8):c.390+5G>A	EXOSC8	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1242349	NM_181503.3(EXOSC8):c.391-61T>G	EXOSC8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 730095	NM_181503.3(EXOSC8):c.391-9C>G	EXOSC8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 779155	NM_181503.3(EXOSC8):c.391-7A>G	EXOSC8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 783041	NM_181503.3(EXOSC8):c.426C>T (p.Leu142=)	EXOSC8	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2085440	NM_181503.3(EXOSC8):c.427G>A (p.Asp143Asn)	EXOSC8 (D143N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 731886	NM_181503.3(EXOSC8):c.432C>T (p.Tyr144=)	EXOSC8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2014142	NM_181503.3(EXOSC8):c.453C>G (p.Ala151=)	EXOSC8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 746032	NM_181503.3(EXOSC8):c.459A>G (p.Thr153=)	EXOSC8	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2346167	NM_181503.3(EXOSC8):c.460T>C (p.Phe154Leu)	EXOSC8 (F154L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 737331	NM_181503.3(EXOSC8):c.471A>G (p.Leu157=)	EXOSC8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1901485	NM_181503.3(EXOSC8):c.473C>T (p.Ala158Val)	EXOSC8 (A158V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 506811	NM_181503.3(EXOSC8):c.474G>A (p.Ala158=)	EXOSC8	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2100067	NM_181503.3(EXOSC8):c.484A>G (p.Asn162Asp)	EXOSC8 (N162D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2094265	NM_181503.3(EXOSC8):c.487+20del	EXOSC8	Deletion (intron variant)	not provided	GLikely benign
Select item 3022161	NM_181503.3(EXOSC8):c.488-19C>G	EXOSC8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2261988	NM_181503.3(EXOSC8):c.488T>C (p.Val163Ala)	EXOSC8 (V163A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2081448	NM_181503.3(EXOSC8):c.508A>G (p.Ile170Val)	EXOSC8 (I170V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2020979	NM_181503.3(EXOSC8):c.535G>T (p.Val179Phe)	EXOSC8 (V179F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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