25814[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 57942	GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3	LOC130067651, LOC130067652 +1004 more	Copy number gain	See cases	GPathogenic
Select item 145111	GRCh38/hg38 22q13.1-13.33(chr22:40202014-50735806)x3	LOC130067596, LOC130067597 +687 more	Copy number gain	See cases	GPathogenic
Select item 147775	GRCh38/hg38 22q13.2-13.33(chr22:41871143-50739836)x1	A4GALT, ACR +580 more	Copy number loss	See cases	GPathogenic
Select item 154688	GRCh38/hg38 22q13.2-13.33(chr22:42080077-50739836)x3	LOC126863184, LOC126863185 +541 more	Copy number gain	See cases	GPathogenic
Select item 146215	GRCh38/hg38 22q13.2-13.31(chr22:42197923-47305564)x4	LOC130067605, LOC130067606 +303 more	Copy number gain	See cases	GPathogenic
Select item 153178	GRCh38/hg38 22q13.2-13.33(chr22:42380961-50759410)x3	LOC126863187, LOC126863188 +523 more	Copy number gain	See cases	GPathogenic
Select item 57636	GRCh38/hg38 22q13.2-13.33(chr22:42433752-50738932)x1	A4GALT, ACR +521 more	Copy number loss	See cases	GPathogenic
Select item 147622	GRCh38/hg38 22q13.2-13.33(chr22:42493445-50268479)x1	A4GALT, ALG12 +428 more	Copy number loss	See cases	GPathogenic
Select item 57944	GRCh38/hg38 22q13.2-13.33(chr22:42599757-50725241)x3	A4GALT, ADM2 +502 more	Copy number gain	See cases	GPathogenic
Select item 57945	GRCh38/hg38 22q13.2-13.33(chr22:42653747-50739836)x3	LOC126863187, LOC126863188 +495 more	Copy number gain	See cases	GPathogenic
Select item 148050	GRCh38/hg38 22q13.2-13.33(chr22:42710276-50739836)x3	CIMAP1B, CPT1B +492 more	Copy number gain	See cases	GPathogenic
Select item 57669	GRCh38/hg38 22q13.2-13.33(chr22:42826246-50739836)x1	LOC130067640, LOC130067641 +483 more	Copy number loss	See cases	GPathogenic
Select item 152914	GRCh38/hg38 22q13.2-13.33(chr22:42837094-50735806)x1	ADM2, ALG12 +481 more	Copy number loss	See cases	GPathogenic
Select item 976862	NC_000022.11:g.43032129_50739836del	CRELD2, DENND6B +471 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 152340	GRCh38/hg38 22q13.2-13.33(chr22:43187980-50745444)x1	ACR, ADM2 +451 more	Copy number loss	See cases	GPathogenic
Select item 976870	NC_000022.11:g.43802117_50806121del	DENND6B, EFCAB6 +443 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 57670	GRCh38/hg38 22q13.31-13.33(chr22:43807366-50739836)x1	ACR, ADM2 +441 more	Copy number loss	See cases	GPathogenic
Select item 146121	GRCh38/hg38 22q13.31-13.33(chr22:43902561-50739836)x1	ACR, ADM2 +434 more	Copy number loss	See cases	GPathogenic
Select item 146895	GRCh38/hg38 22q13.31-13.33(chr22:43992879-50683114)x3	ADM2, ALG12 +428 more	Copy number gain	See cases	GBenign
Select item 976875	NC_000022.11:g.44245760_50806121del	LOC121627953, LOC121627954 +411 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 3062348	GRCh38/hg38 22q13.31-13.33(chr22:44549957-50789329)	CHKB, LOC112695108 +404 more	Copy number loss	Phelan-McDermid syndrome	GPathogenic
Select item 144383	GRCh38/hg38 22q13.31-13.33(chr22:44606363-50739836)x1	ACR, ADM2 +401 more	Copy number loss	See cases	GPathogenic
Select item 976876	NC_000022.11:g.44702479_50806138del	CPT1B, CRELD2 +401 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 57672	GRCh38/hg38 22q13.31-13.33(chr22:44740175-50739836)x1	ACR, ADM2 +396 more	Copy number loss	See cases	GPathogenic
Select item 147743	GRCh38/hg38 22q13.31-13.33(chr22:44764289-50739836)x1	ACR, ADM2 +396 more	Copy number loss	See cases	GPathogenic
Select item 147377	GRCh38/hg38 22q13.31-13.33(chr22:44797239-50739836)x3	ACR, ADM2 +396 more	Copy number gain	See cases	GPathogenic
Select item 57947	GRCh38/hg38 22q13.31-13.33(chr22:44811200-50739836)x3	LOC130067697, LOC130067698 +396 more	Copy number gain	See cases	GPathogenic
Select item 155419	GRCh38/hg38 22q13.31(chr22:44832749-46353315)x3	ARHGAP8, ATXN10 +105 more	Copy number gain	See cases	GUncertain significance
Select item 57264	GRCh38/hg38 22q13.31-13.33(chr22:45239376-50739836)x1	ACR, ADM2 +371 more	Copy number loss	See cases	GPathogenic
Select item 149163	GRCh38/hg38 22q13.31(chr22:45445795-47832195)x1	LOC126863174, LOC126863175 +129 more	Copy number loss	See cases	GUncertain significance
Select item 57673	GRCh38/hg38 22q13.31-13.33(chr22:45648256-50739836)x1	ACR, ADM2 +343 more	Copy number loss	See cases	GPathogenic
Select item 1228260	NC_000022.11:g.45671813C>T	ATXN10	Single nucleotide variant	not provided	GBenign
Select item 2223360	NM_013236.4(ATXN10):c.11C>G (p.Pro4Arg)	ATXN10 (P4R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 930239	NM_013236.4(ATXN10):c.13A>G (p.Arg5Gly)	ATXN10 (R5G)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 10	GUncertain significance
Select item 2224812	NM_013236.4(ATXN10):c.31C>A (p.Leu11Met)	ATXN10 (L11M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1328012	NM_013236.4(ATXN10):c.76C>T (p.Leu26=)	ATXN10, LOC130067689	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2252031	NM_013236.4(ATXN10):c.79C>T (p.Arg27Cys)	ATXN10, LOC130067689 (R27C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 930719	NM_013236.4(ATXN10):c.116+4A>T	ATXN10, LOC130067689	Single nucleotide variant (intron variant)	Spinocerebellar ataxia type 10	GUncertain significance
Select item 1273409	NM_013236.4(ATXN10):c.116+85G>A	ATXN10, LOC130067689	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2260932	NM_013236.4(ATXN10):c.138C>G (p.Ile46Met)	ATXN10 (I46M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3044990	NM_013236.4(ATXN10):c.162A>G (p.Leu54=)	ATXN10	Single nucleotide variant (synonymous variant +1 more)	ATXN10-related disorder	GLikely benign
Select item 196455	NM_013236.4(ATXN10):c.321G>A (p.Thr107=)	ATXN10	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 2223637	NM_013236.4(ATXN10):c.338A>G (p.Asp113Gly)	ATXN10 (D113G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1225212	NM_013236.4(ATXN10):c.392-219T>C	ATXN10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251188	NM_013236.4(ATXN10):c.392-165A>G	ATXN10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1298306	NM_013236.4(ATXN10):c.404G>T (p.Gly135Val)	ATXN10 (G135V +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 10	GUncertain significance
Select item 1675894	NM_013236.4(ATXN10):c.535A>G (p.Met179Val)	ATXN10 (M115V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3065797	NM_013236.4(ATXN10):c.647+1G>A	ATXN10	Single nucleotide variant (splice donor variant)	Spinocerebellar ataxia type 10	GUncertain significance
Select item 2241427	NM_013236.4(ATXN10):c.647+2dup	ATXN10	Duplication (splice donor variant)	Inborn genetic diseases	GUncertain significance
Select item 976865	NC_000022.11:g.45708330_50737364del	TRABD, TRABD-AS1 +338 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 1296745	NM_013236.4(ATXN10):c.648-146C>T	ATXN10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232451	NM_013236.4(ATXN10):c.648-49C>T	ATXN10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250676	NM_013236.4(ATXN10):c.728+25G>T	ATXN10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2268733	NM_013236.4(ATXN10):c.752T>C (p.Ile251Thr)	ATXN10 (I187T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3354356	NM_013236.4(ATXN10):c.831C>G (p.Ser277Arg)	ATXN10 (S213R +1 more)	Single nucleotide variant (missense variant)	ATXN10-related disorder	GLikely benign
Select item 1285177	NM_013236.4(ATXN10):c.894+10G>T	ATXN10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 289272	NM_013236.4(ATXN10):c.908C>T (p.Thr303Ile)	ATXN10 (T303I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3132195	NM_013236.4(ATXN10):c.925G>A (p.Val309Ile)	ATXN10 (V245I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 376826	NM_013236.4(ATXN10):c.948dup (p.Thr317fs)	ATXN10 (T253fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1012706	NM_013236.4(ATXN10):c.978C>T (p.Phe326=)	ATXN10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1257197	NM_013236.4(ATXN10):c.1003+214G>A	ATXN10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1284965	NM_013236.4(ATXN10):c.1053C>T (p.Phe351=)	ATXN10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2233011	NM_013236.4(ATXN10):c.1055G>C (p.Ser352Thr)	ATXN10 (S352T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1708088	NM_013236.4(ATXN10):c.1165C>T (p.Gln389Ter)	ATXN10 (Q325* +1 more)	Single nucleotide variant (nonsense)	Spinocerebellar ataxia type 10	GUncertain significance
Select item 1269243	NM_013236.4(ATXN10):c.1173+142AC[18]	ATXN10	Microsatellite (intron variant)	not provided	GBenign
Select item 1263698	NM_013236.4(ATXN10):c.1173+142AC[17]	ATXN10	Microsatellite (intron variant)	not provided	GBenign
Select item 1252577	NM_013236.4(ATXN10):c.1173+179C>T	ATXN10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283066	NM_013236.4(ATXN10):c.1173+181C>T	ATXN10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237756	NM_013236.4(ATXN10):c.1173+191C>T	ATXN10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260529	NM_013236.4(ATXN10):c.1173+202GT[9]	ATXN10	Microsatellite (intron variant)	not provided	GBenign
Select item 1253704	NM_013236.4(ATXN10):c.1173+201C>T	ATXN10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1285914	NM_013236.4(ATXN10):c.1173+217TA[7]	ATXN10	Microsatellite (intron variant)	not provided	GBenign
Select item 39007	NM_013236.3(ATXN10):c.1173+54822_1173+54826ATTCT[280]	LOC107181287, ATXN10 +1 more	Microsatellite (intron variant)	Spinocerebellar ataxia type 10	Gnot provided
Select item 39006	NM_013236.3(ATXN10):c.1173+54822_1173+54826ATTCT[850]	ATXN10, LOC107181287 +1 more	Microsatellite (intron variant)	Spinocerebellar ataxia type 10	GPathogenic
Select item 39005	NM_013236.3(ATXN10):c.1173+54822_1173+54826ATTCT(800_4500)	ATXN10, LOC107181287 +1 more	Microsatellite	Spinocerebellar ataxia type 10	GPathogenic
Select item 39004	NM_013236.3(ATXN10):c.1173+54822_1173+54826ATTCT(400_760)	ATXN10, LOC107181287 +1 more	Microsatellite	Spinocerebellar ataxia type 10	GPathogenic
Select item 39003	NM_013236.3(ATXN10):c.1173+54822_1173+54826ATTCT(360_370)	ATXN10, LOC107181287 +1 more	Microsatellite	Spinocerebellar ataxia type 10	GPathogenic
Select item 999	NM_013236.5(ATXN10):c.1173+54822_1173ATTCT[10_32]	ATXN10, LOC107181287 +1 more	Microsatellite	Spinocerebellar ataxia type 10	GBenign
Select item 1284186	NM_013236.4(ATXN10):c.1237+23A>G	ATXN10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 976872	NC_000022.11:g.45819932_50737806del	ADM2, ALG12 +333 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 3248117	NC_000022.10:g.(?_45958792)_(46971995_?)del	GTSE1, MIRLET7A3 +11 more	Deletion	not provided	GPathogenic
Select item 3062463	GRCh37/hg19 22q13.2-13.31(chr22:43920110-46548382)x1	ARHGAP8, ATXN10 +24 more	Copy number loss	not specified	GLikely pathogenic
Select item 3062451	GRCh37/hg19 22q13.2-13.33(chr22:43107363-51156692)x1	A4GALT, ADM2 +78 more	Copy number loss	not specified	GPathogenic
Select item 3062449	GRCh37/hg19 22q13.2-13.33(chr22:44034281-51197838)x1	ACR, ADM2 +69 more	Copy number loss	not specified	GPathogenic
Select item 3062442	GRCh37/hg19 22q13.31-13.33(chr22:44502872-51183871)x1	CELSR1, CERK +64 more	Copy number loss	not specified	GPathogenic
Select item 2685682	GRCh37/hg19 22q13.31-13.33(chr22:45611226-51197838)x1	CELSR1, CERK +55 more	Copy number loss	not provided	GPathogenic
Select item 2684939	GRCh37/hg19 22q13.31-13.33(chr22:45657164-51197838)x3	ACR, ADM2 +54 more	Copy number gain	not provided	GPathogenic
Select item 2672923	GRCh37/hg19 22q13.2-13.33(chr22:43820992-51218654)x1	ACR, ADM2 +71 more	Copy number loss	not provided	GPathogenic
Select item 1808266	GRCh37/hg19 22q13.31-13.33(chr22:44390702-51137629)x1	ADM2, ALG12 +64 more	Copy number loss	not provided	GPathogenic
Select item 1808203	GRCh37/hg19 22q13.31-13.33(chr22:45889148-51197838)x1	CDPF1, CELSR1 +50 more	Copy number loss	not provided	GPathogenic
Select item 1807848	GRCh37/hg19 22q13.31-13.33(chr22:45977415-51183840)x1	ACR, ADM2 +50 more	Copy number loss	not provided	GPathogenic
Select item 1807836	GRCh37/hg19 22q13.31-13.33(chr22:45977448-51197838)x1	ACR, ADM2 +50 more	Copy number loss	not provided	GPathogenic
Select item 1807817	GRCh37/hg19 22q13.2-13.33(chr22:44178749-51183840)x1	ACR, ADM2 +69 more	Copy number loss	not provided	GPathogenic
Select item 1803808	GRCh37/hg19 22q13.2-13.33(chr22:43436847-51188164)x3	MIOX, MPPED1 +76 more	Copy number gain	not provided	GPathogenic
Select item 1526739	GRCh37/hg19 22q13.2-13.31(chr22:43451316-46662660)	ARHGAP8, ATXN10 +33 more	Copy number loss	not specified	GPathogenic
Select item 1526738	GRCh37/hg19 22q13.2-13.33(chr22:42972719-51197838)	A4GALT, ACR +82 more	Copy number loss	not specified	GPathogenic
Select item 1330161	GRCh37/hg19 22q13.2-13.33(chr22:42321321-51244066)x1	A4GALT, ACR +96 more	Copy number loss	Phelan-McDermid syndrome	GPathogenic
Select item 997819	Single allele	BIK, BRD1 +94 more	Deletion	Intellectual disability	GPathogenic

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