TBC1D22A[gene] - 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 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 976865	NC_000022.11:g.45708330_50737364del	TRABD, TRABD-AS1 +338 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 976872	NC_000022.11:g.45819932_50737806del	ADM2, ALG12 +333 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 59094	GRCh38/hg38 22q13.31(chr22:45954698-47245325)x3	CDPF1, CELSR1 +99 more	Copy number gain	See cases	GUncertain significance
Select item 57398	GRCh38/hg38 22q13.31-13.33(chr22:46065705-50739836)x1	ACR, ADM2 +315 more	Copy number loss	See cases	GPathogenic
Select item 161059	GRCh38/hg38 22q13.31(chr22:46183346-46791748)x3	CDPF1, CELSR1 +57 more	Copy number gain	See cases	GUncertain significance
Select item 35217	GRCh38/hg38 22q13.31(chr22:46183346-46791748)x3	CDPF1, CELSR1 +57 more	Copy number gain	See cases	GUncertain significance
Select item 976864	NC_000022.11:g.46269281_50740560del	ACR, ADM2 +295 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 59095	GRCh38/hg38 22q13.31(chr22:46281772-48028340)x3	CELSR1, CERK +75 more	Copy number gain	See cases	GUncertain significance
Select item 155420	GRCh38/hg38 22q13.31-13.33(chr22:46361165-50759299)x1	LOC130067809, LOC130067810 +288 more	Copy number loss	See cases	GPathogenic
Select item 146262	GRCh38/hg38 22q13.31(chr22:46370888-47181144)x3	CELSR1, CERK +54 more	Copy number gain	See cases	GLikely benign
Select item 59096	GRCh38/hg38 22q13.31(chr22:46395546-47339207)x3	CELSR1, CERK +55 more	Copy number gain	See cases	GUncertain significance
Select item 976873	NC_000022.11:g.46467175_50759338del	LOC130067779, LOC130067780 +281 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 976869	NC_000022.11:g.46489644_50806138del	LOC126863185, LOC126863186 +282 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 152137	GRCh38/hg38 22q13.31-13.33(chr22:46732445-50780522)x1	ACR, ADM2 +260 more	Copy number loss	See cases	GPathogenic
Select item 2484704	NM_014346.5(TBC1D22A):c.68A>G (p.Gln23Arg)	TBC1D22A (Q23R)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 3324666	NM_014346.5(TBC1D22A):c.149C>G (p.Thr50Ser)	TBC1D22A (T31S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2393667	NM_014346.5(TBC1D22A):c.157G>A (p.Val53Met)	TBC1D22A (V23M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3324669	NM_014346.5(TBC1D22A):c.286G>A (p.Glu96Lys)	TBC1D22A (E96K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2351564	NM_014346.5(TBC1D22A):c.290C>T (p.Thr97Met)	TBC1D22A (T67M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2518055	NM_014346.5(TBC1D22A):c.323G>A (p.Arg108Gln)	TBC1D22A (R89Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 777312	NM_014346.5(TBC1D22A):c.338C>T (p.Thr113Met)	TBC1D22A (T113M +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2493432	NM_014346.5(TBC1D22A):c.400C>A (p.Pro134Thr)	TBC1D22A (P104T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2314093	NM_014346.5(TBC1D22A):c.401C>G (p.Pro134Arg)	TBC1D22A (P104R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3174550	NM_014346.5(TBC1D22A):c.403A>G (p.Ser135Gly)	TBC1D22A (S105G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3174551	NM_014346.5(TBC1D22A):c.428C>T (p.Ser143Leu)	TBC1D22A (S124L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 721878	NM_014346.5(TBC1D22A):c.460+9G>C	TBC1D22A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3174552	NM_014346.5(TBC1D22A):c.464G>T (p.Ser155Ile)	TBC1D22A (S108I +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3324668	NM_014346.5(TBC1D22A):c.469A>T (p.Ser157Cys)	TBC1D22A (S157C +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2412082	NM_014346.5(TBC1D22A):c.472G>A (p.Asp158Asn)	TBC1D22A (D111N +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2331367	NM_014346.5(TBC1D22A):c.478G>A (p.Ala160Thr)	TBC1D22A (A113T +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3174553	NM_014346.5(TBC1D22A):c.512C>T (p.Ser171Leu)	TBC1D22A (S141L +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 783899	NM_014346.5(TBC1D22A):c.524C>T (p.Thr175Met)	TBC1D22A (T128M +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 2352097	NM_014346.5(TBC1D22A):c.535A>G (p.Thr179Ala)	TBC1D22A (T132A +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2294827	NM_014346.5(TBC1D22A):c.566C>T (p.Ala189Val)	TBC1D22A (A142V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2204355	NM_014346.5(TBC1D22A):c.605A>G (p.Lys202Arg)	TBC1D22A (K172R +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2359138	NM_014346.5(TBC1D22A):c.760C>G (p.Gln254Glu)	TBC1D22A (Q207E +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2379305	NM_014346.5(TBC1D22A):c.842A>G (p.His281Arg)	TBC1D22A (H222R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2540592	NM_014346.5(TBC1D22A):c.863G>A (p.Ser288Asn)	TBC1D22A (S258N +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2241461	NM_014346.5(TBC1D22A):c.877A>G (p.Ile293Val)	TBC1D22A (I263V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2494295	NM_014346.5(TBC1D22A):c.934C>T (p.Arg312Cys)	TBC1D22A (R265C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 146310	GRCh38/hg38 22q13.31-13.33(chr22:46919818-50739836)x1	LOC130067846, LOC130067847 +240 more	Copy number loss	See cases	GPathogenic
Select item 3324667	NM_014346.5(TBC1D22A):c.1025A>T (p.Glu342Val)	TBC1D22A (E312V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324670	NM_014346.5(TBC1D22A):c.1035G>A (p.Thr345=)	TBC1D22A	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2396479	NM_014346.5(TBC1D22A):c.1048G>A (p.Gly350Ser)	TBC1D22A (G272S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335476	NM_014346.5(TBC1D22A):c.1258C>T (p.Arg420Cys)	TBC1D22A (R361C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3174548	NM_014346.5(TBC1D22A):c.1310G>A (p.Arg437His)	TBC1D22A (R407H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 57192	GRCh38/hg38 22q13.31(chr22:47069266-47636658)x3	EPIC1, LINC00898 +12 more	Copy number gain	See cases	GUncertain significance
Select item 2520260	NM_014346.5(TBC1D22A):c.1337C>T (p.Pro446Leu)	TBC1D22A (P387L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2359137	NM_014346.5(TBC1D22A):c.1366G>A (p.Val456Met)	TBC1D22A (V378M +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3174549	NM_014346.5(TBC1D22A):c.1394G>A (p.Arg465Lys)	TBC1D22A (R387K +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 57674	GRCh38/hg38 22q13.31-13.33(chr22:47122613-50739836)x1	LOC126863173, LOC126863174 +235 more	Copy number loss	See cases	GPathogenic
Select item 2511216	NM_014346.5(TBC1D22A):c.1462C>A (p.His488Asn)	TBC1D22A (H441N +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2273732	NM_014346.5(TBC1D22A):c.1498G>A (p.Glu500Lys)	TBC1D22A (E500K +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2273339	NM_014346.5(TBC1D22A):c.1531G>A (p.Ala511Thr)	TBC1D22A (A511T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 2685683	GRCh37/hg19 22q13.31(chr22:47419653-47480001)x1	TBC1D22A	Copy number loss	not provided	GUncertain significance
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	GTSE1, HDAC10 +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 1526738	GRCh37/hg19 22q13.2-13.33(chr22:42972719-51197838)	A4GALT, ACR +82 more	Copy number loss	not specified	GPathogenic

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