ClinVar for Gene (Select 8881) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3140782	NM_001078645.3(CDC16):c.574A>G (p.Lys192Glu)	CDC16 (K192E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140781	NM_001078645.3(CDC16):c.296T>C (p.Ile99Thr)	CDC16 (I5T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140780	NM_001078645.3(CDC16):c.1502A>G (p.Tyr501Cys)	CDC16 (Y407C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140779	NM_001078645.3(CDC16):c.1476G>T (p.Met492Ile)	CDC16 (M440I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140778	NM_001078645.3(CDC16):c.1423A>T (p.Ile475Phe)	CDC16 (I474F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140777	NM_001078645.3(CDC16):c.1195C>G (p.Pro399Ala)	CDC16 (P398A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140776	NM_001078645.3(CDC16):c.1012A>G (p.Ile338Val)	CDC16 (I244V +2 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 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	F10, F7 +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 2624394	NM_001078645.3(CDC16):c.151G>A (p.Ala51Thr)	CDC16 (A50T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2588770	NM_001078645.3(CDC16):c.773T>C (p.Met258Thr)	CDC16 (M164T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2555566	NM_001078645.3(CDC16):c.392C>G (p.Ser131Cys)	CDC16 (S131C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531571	NM_001078645.3(CDC16):c.575A>G (p.Lys192Arg)	CDC16 (K191R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518046	NM_001078645.3(CDC16):c.594G>T (p.Gln198His)	CDC16 (Q197H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516200	NM_001078645.3(CDC16):c.728A>G (p.Tyr243Cys)	CDC16 (Y242C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512656	NM_001078645.3(CDC16):c.424G>A (p.Ala142Thr)	CDC16 (A142T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492291	NM_001078645.3(CDC16):c.1766C>T (p.Thr589Ile)	CDC16 (T495I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400136	NM_001078645.3(CDC16):c.100C>G (p.Arg34Gly)	CDC16 (R34G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2395189	NM_001078645.3(CDC16):c.700G>A (p.Val234Ile)	CDC16 (V234I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390813	NM_001078645.3(CDC16):c.413A>G (p.Lys138Arg)	CDC16 (K137R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380520	NM_001078645.3(CDC16):c.942T>G (p.His314Gln)	CDC16 (H220Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378955	NM_001078645.3(CDC16):c.1859C>T (p.Thr620Met)	CDC16 (T620M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361152	NM_001078645.3(CDC16):c.10G>A (p.Glu4Lys)	CDC16, LOC130010209 (E4K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2357047	NM_001078645.3(CDC16):c.1070A>T (p.Tyr357Phe)	CDC16 (Y263F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340865	NM_001078645.3(CDC16):c.1730A>G (p.Glu577Gly)	CDC16 (E525G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339470	NM_001078645.3(CDC16):c.169G>A (p.Ala57Thr)	CDC16 (A57T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2298102	NM_001078645.3(CDC16):c.394A>G (p.Ile132Val)	CDC16 (I132V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294108	NM_001078645.3(CDC16):c.685G>A (p.Glu229Lys)	CDC16 (E229K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262548	NM_001078645.3(CDC16):c.835A>C (p.Asn279His)	CDC16 (N278H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262332	NM_001078645.3(CDC16):c.1463T>A (p.Ile488Asn)	CDC16 (I436N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261815	NM_001078645.3(CDC16):c.1838C>T (p.Thr613Ile)	CDC16 (T613I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254842	NM_001078645.3(CDC16):c.131C>G (p.Ala44Gly)	CDC16 (A44G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2241965	NM_001078645.3(CDC16):c.255G>T (p.Glu85Asp)	CDC16 (E84D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2239438	NM_001078645.3(CDC16):c.1285T>G (p.Leu429Val)	CDC16 (L335V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238094	NM_001078645.3(CDC16):c.1733C>T (p.Thr578Met)	CDC16 (T526M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226763	NM_001078645.3(CDC16):c.998A>G (p.Tyr333Cys)	CDC16 (Y239C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1878430	Single allele	CDC16, CFAP97D2 +23 more	Deletion	See cases	GPathogenic
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	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 1341081	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ARGLU1, FBXL3 +332 more	Copy number gain	not provided	GPathogenic
Select item 1340720	GRCh37/hg19 13q34(chr13:113626234-115107733)x3	ADPRHL1, ATP4B +18 more	Copy number gain	not provided	GLikely pathogenic
Select item 1338738	NC_000013.11:g.109179481_114327244del	LOC130010213, LOC130010214 +261 more	Deletion	Factor VII deficiency +1 more	GPathogenic
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 984753	GRCh37/hg19 13q34(chr13:114893728-115093115)x1	CDC16, CHAMP1 +2 more	Copy number loss	CHAMP1-related syndrome	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 773720	NM_001078645.3(CDC16):c.396C>T (p.Ile132=)	CDC16	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 722878	NM_001078645.3(CDC16):c.113A>G (p.Gln38Arg)	CDC16 (Q38R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 688812	GRCh37/hg19 13q34(chr13:114861494-115064634)x3	CDC16, RASA3 +1 more	Copy number gain	not provided	GUncertain significance
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 684943	GRCh37/hg19 13q34(chr13:114740937-115107733)x3	CDC16, CHAMP1 +2 more	Copy number gain	not provided	GUncertain significance
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 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 564017	GRCh37/hg19 13q34(chr13:114861937-115107733)x3	RASA3, CDC16 +2 more	Copy number gain	not provided	GUncertain significance
Select item 563998	GRCh37/hg19 13q34(chr13:114902249-115011238)x1	CDC16	Copy number loss	not provided	GUncertain significance
Select item 443213	GRCh37/hg19 13q31.1-34(chr13:83435292-115107733)x3	ABCC4, ABHD13 +98 more	Copy number gain	See cases	GPathogenic
Select item 443128	GRCh37/hg19 13q34(chr13:114821094-115107733)x1	CDC16, CHAMP1 +2 more	Copy number loss	See cases	GUncertain significance
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

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