TUBGCP3[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	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 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 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 59888	GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3	LOC130009687, LOC130009688 +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 59893	GRCh38/hg38 13q14.11-34(chr13:44164751-114327173)x3	LOC130009917, LOC130009918 +1288 more	Copy number gain	See cases	GPathogenic
Select item 59896	GRCh38/hg38 13q14.12-34(chr13:44733046-114327173)x3	ARHGEF7-AS1, ARHGEF7-AS2 +1268 more	Copy number gain	See cases	GPathogenic
Select item 152729	GRCh38/hg38 13q31.1-34(chr13:78964223-114340331)x3	LOC124946344, LOC124946345 +706 more	Copy number gain	See cases	GPathogenic
Select item 149780	GRCh38/hg38 13q31.1-34(chr13:78999318-114327106)x3	LOC130010101, LOC130010102 +705 more	Copy number gain	See cases	GPathogenic
Select item 153403	GRCh38/hg38 13q31.1-34(chr13:83288131-114342258)x3	ABCC4, ABHD13 +663 more	Copy number gain	See cases	GPathogenic
Select item 149290	GRCh38/hg38 13q31.1-34(chr13:86788927-114340331)x1	ABCC4, ABHD13 +650 more	Copy number loss	See cases	GPathogenic
Select item 148008	GRCh38/hg38 13q31.2-34(chr13:88937651-114327173)x3	ABCC4, ABHD13 +638 more	Copy number gain	See cases	GPathogenic
Select item 150277	GRCh38/hg38 13q32.1-34(chr13:96745059-114327106)x3	DOCK9-DT, EFNB2 +544 more	Copy number gain	See cases	GPathogenic
Select item 59921	GRCh38/hg38 13q32.3-34(chr13:99472316-114293545)x3	ABHD13, ADPRHL1 +421 more	Copy number gain	See cases	GPathogenic
Select item 59924	GRCh38/hg38 13q32.3-34(chr13:100039860-114327173)x3	LOC132090158, LOC132090159 +395 more	Copy number gain	See cases	GPathogenic
Select item 57684	GRCh38/hg38 13q33.1-34(chr13:101537045-114327173)x1	ABHD13, ADPRHL1 +369 more	Copy number loss	See cases	GPathogenic
Select item 152824	GRCh38/hg38 13q33.1-34(chr13:101762788-114340285)x3	LOC130010172, LOC130010173 +367 more	Copy number gain	See cases	GPathogenic
Select item 147642	GRCh38/hg38 13q33.1-34(chr13:101868708-114293545)x3	ABHD13, ADPRHL1 +360 more	Copy number gain	See cases	GPathogenic
Select item 57685	GRCh38/hg38 13q33.1-34(chr13:102114025-114327173)x1	GAS6-AS1, GAS6-DT +363 more	Copy number loss	See cases	GPathogenic
Select item 148757	GRCh38/hg38 13q33.1-34(chr13:102883322-114340331)x1	LOC121468007, LOC121838584 +339 more	Copy number loss	See cases	GPathogenic
Select item 57709	GRCh38/hg38 13q33.2-34(chr13:104461586-114327173)x1	ABHD13, ADPRHL1 +331 more	Copy number loss	See cases	GPathogenic
Select item 57710	GRCh38/hg38 13q33.2-34(chr13:104698508-114327173)x1	ABHD13, ADPRHL1 +331 more	Copy number loss	See cases	GPathogenic
Select item 155263	GRCh38/hg38 13q33.2-34(chr13:104968135-114340331)x1	ABHD13, ADPRHL1 +332 more	Copy number loss	See cases	GPathogenic
Select item 155489	GRCh38/hg38 13q33.2-34(chr13:105423935-114342258)x3	ABHD13, ADPRHL1 +325 more	Copy number gain	See cases	GUncertain significance
Select item 151756	GRCh38/hg38 13q33.2-34(chr13:105861075-114342258)x1	LOC116268457, LOC121468007 +321 more	Copy number loss	See cases	GPathogenic
Select item 57471	GRCh38/hg38 13q33.2-34(chr13:106157165-114327173)x1	ABHD13, ADPRHL1 +318 more	Copy number loss	See cases	GPathogenic
Select item 2579202	GRCh38/hg38 13q33.3-34(chr13:106425676-114326445)x1	LOC130010165, LOC130010166 +312 more	Copy number loss	Chromosome 13q33-q34 deletion syndrome	GPathogenic
Select item 148614	GRCh38/hg38 13q33.3-34(chr13:107075477-114340331)x1	ABHD13, ADPRHL1 +302 more	Copy number loss	See cases	GPathogenic
Select item 161056	GRCh38/hg38 13q33.3-34(chr13:107918132-114327173)x1	ABHD13, ADPRHL1 +286 more	Copy number loss	See cases	GPathogenic
Select item 33799	GRCh38/hg38 13q33.3-34(chr13:107918132-114327173)x1	ABHD13, ADPRHL1 +286 more	Copy number loss	See cases	GPathogenic
Select item 56998	GRCh38/hg38 13q33.3-34(chr13:108743171-114327173)x1	ADPRHL1, ANKRD10 +271 more	Copy number loss	See cases	GPathogenic
Select item 1338738	NC_000013.11:g.109179481_114327244del	LOC130010213, LOC130010214 +261 more	Deletion	Factor VII deficiency +1 more	GPathogenic
Select item 155035	GRCh38/hg38 13q34(chr13:110857896-114342258)x1	ADPRHL1, ANKRD10 +179 more	Copy number loss	See cases	GPathogenic
Select item 148303	GRCh38/hg38 13q34(chr13:111118651-114340331)x3	MCF2L, MCF2L-AS1 +158 more	Copy number gain	See cases	GLikely pathogenic
Select item 152704	GRCh38/hg38 13q34(chr13:111200986-114340331)x1	ADPRHL1, ARHGEF7 +149 more	Copy number loss	See cases	GPathogenic
Select item 148895	GRCh38/hg38 13q34(chr13:111355741-114340331)x1	ADPRHL1, ATP11A +143 more	Copy number loss	See cases	GPathogenic
Select item 59927	GRCh38/hg38 13q34(chr13:111439396-114327173)x3	ADPRHL1, ATP11A +141 more	Copy number gain	See cases	GPathogenic
Select item 57714	GRCh38/hg38 13q34(chr13:111541166-113671678)x1	ADPRHL1, ATP11A +83 more	Copy number loss	See cases	GPathogenic
Select item 59929	GRCh38/hg38 13q34(chr13:112292922-113636272)x3	ADPRHL1, ATP11A +68 more	Copy number gain	See cases	GPathogenic
Select item 3184804	NM_006322.6(TUBGCP3):c.2621G>A (p.Arg874Gln)	TUBGCP3 (R874Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184803	NM_006322.6(TUBGCP3):c.2380A>G (p.Arg794Gly)	TUBGCP3 (R794G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324237	NM_006322.6(TUBGCP3):c.2281C>T (p.Arg761Cys)	TUBGCP3 (R751C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481067	NM_006322.6(TUBGCP3):c.2278T>C (p.Ser760Pro)	TUBGCP3 (S750P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2565754	NM_006322.6(TUBGCP3):c.2253C>A (p.His751Gln)	TUBGCP3 (H741Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 147932	GRCh38/hg38 13q34(chr13:112505944-112884305)x3	ATP11A, ATP11A-AS1 +22 more	Copy number gain	See cases	GBenign
Select item 3184802	NM_006322.6(TUBGCP3):c.2038A>G (p.Ile680Val)	TUBGCP3 (I670V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184801	NM_006322.6(TUBGCP3):c.2032A>G (p.Thr678Ala)	TUBGCP3 (T668A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212880	NM_006322.6(TUBGCP3):c.2024A>G (p.Tyr675Cys)	TUBGCP3 (Y675C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330240	NM_006322.6(TUBGCP3):c.1909G>T (p.Val637Phe)	TUBGCP3 (V637F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242698	NM_006322.6(TUBGCP3):c.1877T>C (p.Leu626Pro)	TUBGCP3 (L616P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237185	NM_006322.6(TUBGCP3):c.1433A>G (p.Asp478Gly)	TUBGCP3 (D478G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184799	NM_006322.6(TUBGCP3):c.1295G>A (p.Arg432His)	TUBGCP3 (R432H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184798	NM_006322.6(TUBGCP3):c.1226C>T (p.Pro409Leu)	TUBGCP3 (P409L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184797	NM_006322.6(TUBGCP3):c.1225C>T (p.Pro409Ser)	TUBGCP3 (P409S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217549	NM_006322.6(TUBGCP3):c.1196C>T (p.Ala399Val)	TUBGCP3 (A399V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2643964	NM_006322.6(TUBGCP3):c.1168+73_1168+102del	TUBGCP3	Deletion (inframe_deletion +1 more)	not provided	GLikely benign
Select item 2672291	NM_006322.6(TUBGCP3):c.1168+37CGCGCGACTTTCCCA[2]	TUBGCP3	Microsatellite (inframe_deletion +1 more)	not specified	GBenign
Select item 2514743	NM_006322.6(TUBGCP3):c.1115A>G (p.Tyr372Cys)	TUBGCP3 (Y362C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552216	NM_006322.6(TUBGCP3):c.1097G>A (p.Arg366His)	TUBGCP3 (R356H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268188	NM_006322.6(TUBGCP3):c.1010G>A (p.Arg337Gln)	TUBGCP3 (R327Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329291	NM_006322.6(TUBGCP3):c.958G>A (p.Val320Ile)	TUBGCP3 (V320I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523727	NM_006322.6(TUBGCP3):c.943C>T (p.Arg315Cys)	TUBGCP3 (R305C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330239	NM_006322.6(TUBGCP3):c.827A>G (p.Lys276Arg)	TUBGCP3 (K266R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330242	NM_006322.6(TUBGCP3):c.781A>G (p.Ile261Val)	TUBGCP3 (I251V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391875	NM_006322.6(TUBGCP3):c.769G>A (p.Val257Ile)	TUBGCP3 (V247I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184808	NM_006322.6(TUBGCP3):c.623C>T (p.Thr208Ile)	TUBGCP3 (T198I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306833	NM_006322.6(TUBGCP3):c.617C>T (p.Thr206Ile)	TUBGCP3 (T196I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330243	NM_006322.6(TUBGCP3):c.578A>G (p.Asp193Gly)	TUBGCP3 (D193G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184807	NM_006322.6(TUBGCP3):c.541C>T (p.Leu181Phe)	TUBGCP3 (L171F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390912	NM_006322.6(TUBGCP3):c.527C>T (p.Ala176Val)	TUBGCP3 (A166V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354631	NM_006322.6(TUBGCP3):c.463G>A (p.Gly155Ser)	TUBGCP3 (G145S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289367	NM_006322.6(TUBGCP3):c.436C>T (p.Arg146Trp)	TUBGCP3 (R146W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184806	NM_006322.6(TUBGCP3):c.425G>A (p.Ser142Asn)	TUBGCP3 (S142N +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2250364	NM_006322.6(TUBGCP3):c.406C>T (p.Pro136Ser)	TUBGCP3 (P126S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335943	NM_006322.6(TUBGCP3):c.400G>A (p.Ala134Thr)	TUBGCP3 (A124T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474981	NM_006322.6(TUBGCP3):c.397T>C (p.Tyr133His)	TUBGCP3 (Y133H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332923	NM_006322.6(TUBGCP3):c.316A>G (p.Arg106Gly)	TUBGCP3 (R106G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597929	NM_006322.6(TUBGCP3):c.314G>A (p.Arg105His)	TUBGCP3 (R105H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275849	NM_006322.6(TUBGCP3):c.296G>A (p.Ser99Asn)	TUBGCP3 (S99N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184805	NM_006322.6(TUBGCP3):c.277A>G (p.Ile93Val)	TUBGCP3 (I93V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184800	NM_006322.6(TUBGCP3):c.188T>C (p.Ile63Thr)	TUBGCP3 (I63T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330238	NM_006322.6(TUBGCP3):c.139G>A (p.Val47Ile)	TUBGCP3 (V47I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597391	NM_006322.6(TUBGCP3):c.10C>T (p.Pro4Ser)	LOC130010164, TUBGCP3 (P4S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242333	GRCh37/hg19 13q32.3-34(chr13:99892724-115108414)x3	ABHD13, ADPRHL1 +66 more	Copy number gain	not provided	GPathogenic
Select item 3148913	GRCh37/hg19 13q34(chr13:112071769-115107733)x3	ADPRHL1, ATP11A +23 more	Copy number gain	not provided	GUncertain significance
Select item 3063309	GRCh37/hg19 13q31.1-34(chr13:84669397-115107733)x1	ABCC4, ABHD13 +97 more	Copy number loss	not specified	GPathogenic
Select item 3063307	GRCh37/hg19 13q33.1-34(chr13:102421732-115107733)x1	ABHD13, ADPRHL1 +54 more	Copy number loss	not specified	GPathogenic
Select item 3063302	GRCh37/hg19 13q33.2-34(chr13:106430837-114763645)x3	ABHD13, ADPRHL1 +39 more	Copy number gain	not specified	GUncertain significance
Select item 3063300	GRCh37/hg19 13q33.1-34(chr13:103149209-115107733)x1	ABHD13, ADPRHL1 +53 more	Copy number loss	not specified	GPathogenic
Select item 3063294	GRCh37/hg19 13q31.1-34(chr13:82876219-115107733)x3	ABCC4, ABHD13 +98 more	Copy number gain	not specified	GPathogenic
Select item 3063291	GRCh37/hg19 13q33.2-34(chr13:105761074-115107733)x1	ABHD13, ADPRHL1 +44 more	Copy number loss	not specified	GPathogenic
Select item 3063290	GRCh37/hg19 13q33.1-34(chr13:104389334-115107733)x1	ABHD13, ADPRHL1 +44 more	Copy number loss	not specified	GPathogenic

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