ClinVar for Gene (Select 10426) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 3184805	NM_006322.6(TUBGCP3):c.277A>G (p.Ile93Val)	TUBGCP3 (I93V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 3184800	NM_006322.6(TUBGCP3):c.188T>C (p.Ile63Thr)	TUBGCP3 (I63T)	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 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
Select item 3063287	GRCh37/hg19 13q33.2-34(chr13:106591678-115107733)x1	ABHD13, ADPRHL1 +42 more	Copy number loss	not specified	GPathogenic
Select item 3024583	GRCh37/hg19 13q34(chr13:113158346-115091756)x1	ADPRHL1, ATP11A +21 more	Copy number loss	not provided	GPathogenic
Select item 2685475	GRCh37/hg19 13q31.1-34(chr13:82131211-115107733)x1	ABCC4, ABHD13 +98 more	Copy number loss	not provided	GPathogenic
Select item 2684705	GRCh37/hg19 13q22.1-34(chr13:73488238-115107733)x3	ABCC4, ABHD13 +121 more	Copy number gain	not provided	GPathogenic
Select item 2684703	GRCh37/hg19 13q21.2-34(chr13:61534068-115107733)x3	ABCC4, ABHD13 +129 more	Copy number gain	not provided	GPathogenic
Select item 2672291	NM_006322.6(TUBGCP3):c.1168+37CGCGCGACTTTCCCA[2]	TUBGCP3	Microsatellite (inframe_deletion +1 more)	not specified	GBenign
Select item 2643964	NM_006322.6(TUBGCP3):c.1168+73_1168+102del	TUBGCP3	Deletion (inframe_deletion +1 more)	not provided	GLikely benign
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 2597391	NM_006322.6(TUBGCP3):c.10C>T (p.Pro4Ser)	LOC130010164, TUBGCP3 (P4S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579202	GRCh38/hg38 13q33.3-34(chr13:106425676-114326445)x1	LOC130010152, LOC130010153 +312 more	Copy number loss	Chromosome 13q33-q34 deletion syndrome	GPathogenic
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 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 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 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 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 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 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 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 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 2332923	NM_006322.6(TUBGCP3):c.316A>G (p.Arg106Gly)	TUBGCP3 (R106G)	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 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 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 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 2275849	NM_006322.6(TUBGCP3):c.296G>A (p.Ser99Asn)	TUBGCP3 (S99N)	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 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 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 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 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 1809298	GRCh37/hg19 13q32.3-34(chr13:99421603-115107733)x3	ABHD13, ADPRHL1 +67 more	Copy number gain	not provided	GPathogenic
Select item 1808983	GRCh37/hg19 13q32.1-34(chr13:97142120-115107733)x1	ABHD13, ADPRHL1 +76 more	Copy number loss	not provided	GPathogenic
Select item 1808284	GRCh37/hg19 13q34(chr13:113196617-113800575)x1	ATP11A, ATP11AUN +4 more	Copy number loss	not provided	GUncertain significance
Select item 1807731	GRCh37/hg19 13q22.1-34(chr13:75268539-115107733)x3	ABCC4, ABHD13 +116 more	Copy number gain	not provided	GPathogenic
Select item 1710518	GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3	CCDC169-SOHLH2, CCDC70 +332 more	Copy number gain	not provided	GPathogenic
Select item 1707439	GRCh37/hg19 13q31.2-34(chr13:89490345-115062235)x3	ABCC4, ABHD13 +93 more	Copy number gain	See cases	GPathogenic
Select item 1703573	GRCh37/hg19 13p13-q34(chr13:1-115169878)	PCID2, PCOTH +332 more	Copy number gain	Complete trisomy 13 syndrome	GPathogenic
Select item 1703542	GRCh37/hg19 13q34(chr13:110428062-115107733)	ADPRHL1, ANKRD10 +35 more	Copy number loss	Neurodevelopmental delay	GPathogenic
Select item 1527798	GRCh37/hg19 13q33.2-34(chr13:106450862-115107733)	ABHD13, ADPRHL1 +42 more	Copy number loss	not specified	GPathogenic
Select item 1527797	GRCh37/hg19 13q33.2-34(chr13:106056749-115107733)	ABHD13, ADPRHL1 +44 more	Copy number loss	not specified	GPathogenic
Select item 1527796	GRCh37/hg19 13q33.1-34(chr13:104545892-115107733)	ABHD13, ADPRHL1 +44 more	Copy number loss	not specified	GPathogenic
Select item 1527791	GRCh37/hg19 13q32.3-34(chr13:100258328-115107733)	ABHD13, ADPRHL1 +62 more	Copy number loss	not specified	GPathogenic
Select item 1527788	GRCh37/hg19 13q31.2-34(chr13:88073140-115107733)	EFNB2, ERCC5 +96 more	Copy number loss	not specified	GPathogenic
Select item 1527787	GRCh37/hg19 13q31.1-34(chr13:85037147-115107733)	DCUN1D2, DNAJC3 +97 more	Copy number gain	not specified	GPathogenic
Select item 1527786	GRCh37/hg19 13q31.1-34(chr13:79370012-115107733)	F10, F7 +101 more	Copy number loss	not specified	GPathogenic
Select item 1527785	GRCh37/hg19 13q22.3-34(chr13:78514567-115107733)	ITGBL1, LAMP1 +104 more	Copy number gain	not specified	GPathogenic
Select item 1527777	GRCh37/hg19 13q21.2-34(chr13:61424168-115107733)	ABCC4, ABHD13 +129 more	Copy number gain	not specified	GPathogenic
Select item 1527750	GRCh37/hg19 13q11-34(chr13:19436286-115107733)	ABCC4, DNAJC15 +332 more	Copy number gain	not specified	GPathogenic
Select item 1527749	GRCh37/hg19 13q11-34(chr13:19436286-114981726)	ZMYM5, SPATA13 +329 more	Copy number gain	not specified	GPathogenic
Select item 1341081	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ARGLU1, FBXL3 +332 more	Copy number gain	not provided	GPathogenic
Select item 1338738	NC_000013.11:g.109179481_114327244del	LOC130010213, LOC130010214 +261 more	Deletion	Factor VII deficiency +1 more	GPathogenic
Select item 1333006	Single allele	ANKRD10, ANKRD10-IT1 +17 more	Deletion	Factor VII deficiency +1 more	GLikely pathogenic
Select item 1321996	GRCh37/hg19 13p13-q34(chr13:1-115169878)x3	MRPL57, MRPS31 +332 more	Copy number gain	See cases	GPathogenic
Select item 1048617	GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3	DGKH, DHRS12 +332 more	Copy number gain	See cases	GPathogenic
Select item 981484	Single allele	ABHD13, ADPRHL1 +55 more	Deletion	not provided	GPathogenic
Select item 979996	GRCh37/hg19 13q34(chr13:112069981-115107733)x3	ATP11AUN, UPF3A +23 more	Copy number gain	not provided	GLikely pathogenic
Select item 979994	GRCh37/hg19 13q33.2-34(chr13:106256198-115107733)x1	DCUN1D2, TMEM255B +42 more	Copy number loss	not provided	GPathogenic
Select item 815614	GRCh37/hg19 13q32.1-34(chr13:96895656-115107733)x1	ABHD13, ADPRHL1 +76 more	Copy number loss	not provided	GPathogenic
Select item 815590	GRCh37/hg19 13q14.3-34(chr13:53262013-115107733)x1	ABCC4, ABHD13 +142 more	Copy number loss	not provided	GPathogenic
Select item 688438	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	not provided	GPathogenic
Select item 687981	GRCh37/hg19 13q33.3-34(chr13:109203109-115107733)x3	ADPRHL1, ANKRD10 +36 more	Copy number gain	not provided	GUncertain significance
Select item 687326	GRCh37/hg19 13q21.2-34(chr13:61775567-115107733)x3	ABCC4, ABHD13 +129 more	Copy number gain	not provided	GPathogenic
Select item 687002	GRCh37/hg19 13q31.3-34(chr13:94849303-115107733)x3	ABCC4, ABHD13 +86 more	Copy number gain	not provided	GUncertain significance
Select item 686178	GRCh37/hg19 13q34(chr13:111568865-115107733)x1	ADPRHL1, ARHGEF7 +25 more	Copy number loss	not provided	GPathogenic
Select item 684505	Single allele	ABHD13, ADPRHL1 +40 more	Deletion	not provided	Gnot provided
Select item 625813	GRCh37/hg19 13q33.1-34(chr13:101881803-115091330)	ABHD13, ADPRHL1 +56 more	Copy number gain	not provided	GPathogenic
Select item 564082	GRCh37/hg19 13q22.3-34(chr13:78590089-115107733)x3	ABCC4, ABHD13 +103 more	Copy number gain	not provided	GPathogenic
Select item 564078	GRCh37/hg19 13q33.2-34(chr13:105389857-113467489)x1	ARGLU1, COL4A1 +24 more	Copy number loss	not provided	GPathogenic
Select item 564077	GRCh37/hg19 13q33.3-34(chr13:108083664-115107733)x1	CUL4A, GRTP1 +40 more	Copy number loss	not provided	GPathogenic
Select item 564076	GRCh37/hg19 13q33.3-34(chr13:108567578-115107733)x3	PCID2, TUBGCP3 +39 more	Copy number gain	not provided	GPathogenic
Select item 564074	GRCh37/hg19 13q33.3-34(chr13:109771548-115107733)x1	CDC16, MCF2L +36 more	Copy number loss	not provided	GPathogenic
Select item 564069	GRCh37/hg19 13q34(chr13:112530842-115107733)x1	CHAMP1, F7 +23 more	Copy number loss	not provided	GPathogenic
Select item 443213	GRCh37/hg19 13q31.1-34(chr13:83435292-115107733)x3	ABCC4, ABHD13 +98 more	Copy number gain	See cases	GPathogenic
Select item 442938	GRCh37/hg19 13q32.1-34(chr13:96586481-115107733)x1	ABHD13, ADPRHL1 +77 more	Copy number loss	See cases	GPathogenic
Select item 442796	GRCh37/hg19 13q21.1-34(chr13:56431743-115107733)	ABCC4, ABHD13 +137 more	Copy number gain	See cases	GPathogenic
Select item 442647	GRCh37/hg19 13q31.3-34(chr13:94474530-115107733)x1	ABCC4, ABHD13 +86 more	Copy number loss	See cases	GPathogenic
Select item 442311	GRCh37/hg19 13q31.1-34(chr13:85176519-115107733)x3	ABCC4, ABHD13 +97 more	Copy number gain	See cases	GPathogenic
Select item 442271	GRCh37/hg19 13q33.1-34(chr13:103170306-115107733)x1	ABHD13, ADPRHL1 +53 more	Copy number loss	See cases	GPathogenic

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