TUBGCP6[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 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 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 57398	GRCh38/hg38 22q13.31-13.33(chr22:46065705-50739836)x1	ACR, ADM2 +315 more	Copy number loss	See cases	GPathogenic
Select item 976864	NC_000022.11:g.46269281_50740560del	ACR, ADM2 +295 more	Deletion	Phelan-McDermid syndrome	GPathogenic
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 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 146310	GRCh38/hg38 22q13.31-13.33(chr22:46919818-50739836)x1	LOC130067846, LOC130067847 +240 more	Copy number loss	See cases	GPathogenic
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 57675	GRCh38/hg38 22q13.31-13.33(chr22:47234701-50739836)x1	ACR, ADM2 +230 more	Copy number loss	See cases	GPathogenic
Select item 976868	NC_000022.11:g.47447433_50806138del	LOC126863188, LOC129391286 +228 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 976863	NC_000022.11:g.47513236_50806138del	ACR, ADM2 +226 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 976866	NC_000022.11:g.47705262_50739836del	LOC130067774, LOC130067775 +221 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 57193	GRCh38/hg38 22q13.31-13.33(chr22:47705262-50739836)x1	ACR, ADM2 +221 more	Copy number loss	See cases	GPathogenic
Select item 976861	NC_000022.11:g.47823120_50759410del	LOC130067781, LOC130067782 +221 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 57701	GRCh38/hg38 22q13.32-13.33(chr22:48138038-50739836)x1	ACR, ADM2 +211 more	Copy number loss	See cases	GPathogenic
Select item 154522	GRCh38/hg38 22q13.32-13.33(chr22:48241375-50739836)x1	ACR, ADM2 +210 more	Copy number loss	See cases	GPathogenic
Select item 976871	NC_000022.11:g.48500337_50739785del	ACR, ADM2 +206 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 976867	NC_000022.11:g.48500344_50780581del	LOC126863183, LOC126863184 +207 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 148302	GRCh38/hg38 22q13.32-13.33(chr22:48500344-50780581)x1	ACR, ADM2 +207 more	Copy number loss	See cases	GPathogenic
Select item 147807	GRCh38/hg38 22q13.32-13.33(chr22:48614336-50739836)x1	ACR, ADM2 +204 more	Copy number loss	See cases	GPathogenic
Select item 57703	GRCh38/hg38 22q13.32-13.33(chr22:48654672-50739836)x1	ACR, ADM2 +204 more	Copy number loss	See cases	GPathogenic
Select item 976874	NC_000022.11:g.49181210_50759297del	DENND6B, HDAC10 +190 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 144225	GRCh38/hg38 22q13.33(chr22:49315518-50739836)x1	ACR, ADM2 +186 more	Copy number loss	See cases	GPathogenic
Select item 144377	GRCh38/hg38 22q13.33(chr22:49378128-50739836)x1	ACR, ADM2 +185 more	Copy number loss	See cases	GPathogenic
Select item 57704	GRCh38/hg38 22q13.33(chr22:49395349-50738932)x1	ACR, ADM2 +185 more	Copy number loss	See cases	GPathogenic
Select item 146391	GRCh38/hg38 22q13.33(chr22:49504768-50780581)x1	ACR, ADM2 +185 more	Copy number loss	See cases	GPathogenic
Select item 155641	GRCh38/hg38 22q13.33(chr22:49529760-50759410)x1	LOC121853048, LOC125446259 +184 more	Copy number loss	See cases	GPathogenic
Select item 150859	GRCh38/hg38 22q13.33(chr22:49535113-50780581)x1	ACR, ADM2 +185 more	Copy number loss	See cases	GPathogenic
Select item 2579283	GRCh38/hg38 22q13.33(chr22:49757859-50740457)x1	ACR, ADM2 +178 more	Copy number loss	Phelan-McDermid syndrome	GPathogenic
Select item 1703238	Single allele	ACR, LOC130067783 +166 more	Duplication	Chromosome 22q13 duplication syndrome	GPathogenic
Select item 1679643	Single allele	LOC130067853, LOC130067854 +117 more	Duplication	not provided	GUncertain significance
Select item 146870	GRCh38/hg38 22q13.33(chr22:50055303-50677724)x3	ADM2, ARSA +123 more	Copy number gain	See cases	GUncertain significance
Select item 151373	GRCh38/hg38 22q13.33(chr22:50149563-50780522)x1	ACR, ADM2 +124 more	Copy number loss	See cases	GPathogenic
Select item 1230038	NC_000022.11:g.50217605C>T	SELENOO, TUBGCP6	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1220889	NC_000022.11:g.50217624T>A	TUBGCP6	Single nucleotide variant	not provided	GBenign
Select item 1240569	NC_000022.11:g.50217667A>G	TUBGCP6	Single nucleotide variant	not provided	GBenign
Select item 1264884	NC_000022.11:g.50217680A>C	TUBGCP6	Single nucleotide variant	not provided	GBenign
Select item 1214732	NM_020461.4(TUBGCP6):c.*39C>T	TUBGCP6	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 30809	NM_020461.4(TUBGCP6):c.5458T>G (p.Ter1820Gly)	TUBGCP6	Single nucleotide variant (stop lost)	Microcephaly and chorioretinopathy 1	GPathogenic
Select item 2102350	NM_020461.4(TUBGCP6):c.5456C>T (p.Ala1819Val)	TUBGCP6 (A1819V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1124915	NM_020461.4(TUBGCP6):c.5454C>T (p.Asp1818=)	TUBGCP6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1044352	NM_020461.4(TUBGCP6):c.5453A>G (p.Asp1818Gly)	TUBGCP6 (D1818G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1626833	NM_020461.4(TUBGCP6):c.5451G>A (p.Gln1817=)	TUBGCP6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3366349	NM_020461.4(TUBGCP6):c.5444_5447dup (p.Tyr1816Ter)	TUBGCP6 (Y1816*)	Duplication (nonsense)	not specified	GUncertain significance
Select item 1312827	NM_020461.4(TUBGCP6):c.5446T>C (p.Tyr1816His)	TUBGCP6 (Y1816H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1054083	NM_020461.4(TUBGCP6):c.5444A>C (p.Tyr1815Ser)	TUBGCP6 (Y1815S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 962289	NM_020461.4(TUBGCP6):c.5437AAC[3] (p.Asn1814dup)	TUBGCP6	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 1039689	NM_020461.4(TUBGCP6):c.5440A>T (p.Asn1814Tyr)	TUBGCP6 (N1814Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2839664	NM_020461.4(TUBGCP6):c.5436C>T (p.Phe1812=)	TUBGCP6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1050928	NM_020461.4(TUBGCP6):c.5435_5436insG (p.Phe1812fs)	TUBGCP6 (F1812fs)	Insertion (frameshift variant)	not provided	GUncertain significance
Select item 851494	NM_020461.4(TUBGCP6):c.5435T>A (p.Phe1812Tyr)	TUBGCP6 (F1812Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1580188	NM_020461.4(TUBGCP6):c.5433C>T (p.Asn1811=)	TUBGCP6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1408759	NM_020461.4(TUBGCP6):c.5431A>T (p.Asn1811Tyr)	TUBGCP6 (N1811Y)	Single nucleotide variant (missense variant)	See cases +1 more	GUncertain significance
Select item 1101855	NM_020461.4(TUBGCP6):c.5427C>T (p.Arg1809=)	TUBGCP6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1042087	NM_020461.4(TUBGCP6):c.5426G>A (p.Arg1809His)	TUBGCP6 (R1809H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1707799	NM_020461.4(TUBGCP6):c.5425C>T (p.Arg1809Cys)	TUBGCP6 (R1809C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2105951	NM_020461.4(TUBGCP6):c.5424G>A (p.Leu1808=)	TUBGCP6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2761671	NM_020461.4(TUBGCP6):c.5419C>T (p.Leu1807=)	TUBGCP6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1151891	NM_020461.4(TUBGCP6):c.5418T>C (p.Phe1806=)	TUBGCP6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1418544	NM_020461.4(TUBGCP6):c.5416T>C (p.Phe1806Leu)	TUBGCP6 (F1806L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2121143	NM_020461.4(TUBGCP6):c.5404C>T (p.His1802Tyr)	TUBGCP6 (H1802Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 959403	NM_020461.4(TUBGCP6):c.5402C>T (p.Pro1801Leu)	TUBGCP6 (P1801L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1467734	NM_020461.4(TUBGCP6):c.5401C>G (p.Pro1801Ala)	TUBGCP6 (P1801A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2014781	NM_020461.4(TUBGCP6):c.5397C>T (p.Tyr1799=)	TUBGCP6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1716645	NM_020461.4(TUBGCP6):c.5396A>T (p.Tyr1799Phe)	TUBGCP6 (Y1799F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1019877	NM_020461.4(TUBGCP6):c.5392G>A (p.Gly1798Ser)	TUBGCP6 (G1798S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1933930	NM_020461.4(TUBGCP6):c.5391C>G (p.Arg1797=)	TUBGCP6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 742323	NM_020461.4(TUBGCP6):c.5391C>T (p.Arg1797=)	TUBGCP6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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