ClinVar for Gene (Select 121793) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3325573	NM_152324.3(TEX29):c.287C>T (p.Ala96Val)	TEX29 (A119V +1 more)	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 3176398	NM_152324.3(TEX29):c.439G>A (p.Glu147Lys)	TEX29 (E147K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176397	NM_152324.3(TEX29):c.37C>A (p.His13Asn)	TEX29 (H13N)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3176396	NM_152324.3(TEX29):c.308A>G (p.Glu103Gly)	TEX29 (E103G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176395	NM_152324.3(TEX29):c.245T>C (p.Ile82Thr)	TEX29 (I82T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176394	NM_152324.3(TEX29):c.209C>G (p.Ala70Gly)	TEX29 (A70G +1 more)	Single nucleotide variant (missense variant)	not specified	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 2685475	GRCh37/hg19 13q31.1-34(chr13:82131211-115107733)x1	ANKRD10, ANKRD10-IT1 +98 more	Copy number loss	not provided	GPathogenic
Select item 2684705	GRCh37/hg19 13q22.1-34(chr13:73488238-115107733)x3	GPR18, GRTP1 +121 more	Copy number gain	not provided	GPathogenic
Select item 2684703	GRCh37/hg19 13q21.2-34(chr13:61534068-115107733)x3	TBC1D4, TEX29 +129 more	Copy number gain	not provided	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 2522032	NM_152324.3(TEX29):c.208G>A (p.Ala70Thr)	TEX29 (A70T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402293	NM_152324.3(TEX29):c.139G>A (p.Glu47Lys)	TEX29 (E47K)	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2380513	NM_152324.3(TEX29):c.145G>A (p.Val49Ile)	TEX29 (V49I)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2378880	NM_152324.3(TEX29):c.161C>T (p.Ala54Val)	TEX29 (R29W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231375	NM_152324.3(TEX29):c.181G>C (p.Val61Leu)	TEX29 (V61L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210083	NM_152324.3(TEX29):c.110G>A (p.Arg37Gln)	TEX29 (D12N +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 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	B3GLCT, HS6ST3 +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)	ABCC4, ABHD13 +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)	ABCC4, ABHD13 +96 more	Copy number loss	not specified	GPathogenic
Select item 1527787	GRCh37/hg19 13q31.1-34(chr13:85037147-115107733)	ABCC4, ABHD13 +97 more	Copy number gain	not specified	GPathogenic
Select item 1527786	GRCh37/hg19 13q31.1-34(chr13:79370012-115107733)	DCUN1D2, ERCC5 +101 more	Copy number loss	not specified	GPathogenic
Select item 1527785	GRCh37/hg19 13q22.3-34(chr13:78514567-115107733)	MIR18A, MIR19A +104 more	Copy number gain	not specified	GPathogenic
Select item 1527777	GRCh37/hg19 13q21.2-34(chr13:61424168-115107733)	ACOD1, ADPRHL1 +129 more	Copy number gain	not specified	GPathogenic
Select item 1527750	GRCh37/hg19 13q11-34(chr13:19436286-115107733)	ABCC4, ABHD13 +332 more	Copy number gain	not specified	GPathogenic
Select item 1527749	GRCh37/hg19 13q11-34(chr13:19436286-114981726)	VPS36, VWA8 +329 more	Copy number gain	not specified	GPathogenic
Select item 1341081	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ABCC4, ABHD13 +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	DACH1, IRS2 +332 more	Copy number gain	See cases	GPathogenic
Select item 1048617	GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3	CENPJ, CHAMP1 +332 more	Copy number gain	See cases	GPathogenic
Select item 981484	Single allele	ABHD13, ADPRHL1 +55 more	Deletion	not provided	GPathogenic
Select item 979998	GRCh37/hg19 13q34(chr13:111374280-112537874)x3	ANKRD10, ANKRD10-IT1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 979995	GRCh37/hg19 13q33.3-34(chr13:109752674-112352804)x1	LINC00567, ANKRD10-IT1 +11 more	Copy number loss	not provided	GUncertain significance
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	CDC16, NALCN +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 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	TGDS, TM9SF2 +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
Select item 442100	GRCh37/hg19 13q33.1-34(chr13:103880953-115107733)x1	ABHD13, ADPRHL1 +44 more	Copy number loss	See cases	GPathogenic
Select item 441797	GRCh37/hg19 13q31.1-34(chr13:80058840-115107733)x3	ABCC4, ABHD13 +100 more	Copy number gain	See cases	GPathogenic
Select item 441765	GRCh37/hg19 13q11-34(chr13:19436287-115107733)	FGF9, FLT1 +332 more	Copy number gain	See cases	GPathogenic
Select item 441764	GRCh37/hg19 13q11-34(chr13:19436287-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	See cases	GPathogenic
Select item 441710	GRCh37/hg19 13q33.3-34(chr13:109151651-115107733)x1	ATP11AUN, ATP4B +36 more	Copy number loss	See cases	GPathogenic
Select item 441662	GRCh37/hg19 13q21.33-34(chr13:71871468-115107733)x4	ABCC4, ABHD13 +125 more	Copy number gain	See cases	GPathogenic
Select item 395156	GRCh37/hg19 13q31.1-34(chr13:82221361-115092569)x3	ABCC4, ABHD13 +98 more	Copy number gain	See cases	GPathogenic
Select item 394462	GRCh37/hg19 13q12.11-34(chr13:19571503-115092510)	CRYL1, CSNK1A1L +332 more	Copy number gain	See cases	GPathogenic
Select item 253491	GRCh37/hg19 13q31.2-34(chr13:89796110-115083342)x1	ABCC4, ABHD13 +94 more	Copy number loss	See cases	GPathogenic
Select item 253405	GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3	GTF2F2, LINC00567 +332 more	Copy number gain	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 160881	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC126861859, LOC126861860 +2025 more	Copy number gain	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 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	ABCC4, ABHD13 +2046 more	Copy number gain	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 155035	GRCh38/hg38 13q34(chr13:110857896-114342258)x1	ADPRHL1, ANKRD10 +179 more	Copy number loss	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 153403	GRCh38/hg38 13q31.1-34(chr13:83288131-114342258)x3	ABCC4, ABHD13 +663 more	Copy number gain	See cases	GPathogenic
Select item 152966	GRCh38/hg38 13q33.3-34(chr13:107708655-112101112)x1	LOC130010121, LOC130010122 +156 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 152729	GRCh38/hg38 13q31.1-34(chr13:78964223-114340331)x3	LOC124946344, LOC124946345 +706 more	Copy number gain	See cases	GPathogenic
Select item 152704	GRCh38/hg38 13q34(chr13:111200986-114340331)x1	ADPRHL1, ARHGEF7 +149 more	Copy number loss	See cases	GPathogenic
Select item 151756	GRCh38/hg38 13q33.2-34(chr13:105861075-114342258)x1	LOC116268457, LOC121468007 +321 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 150277	GRCh38/hg38 13q32.1-34(chr13:96745059-114327106)x3	DOCK9-DT, EFNB2 +544 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 149780	GRCh38/hg38 13q31.1-34(chr13:78999318-114327106)x3	LOC130010101, LOC130010102 +705 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

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