ClinVar for Gene (Select 348013) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3179323	NM_182614.4(TMEM255B):c.964C>T (p.Pro322Ser)	TMEM255B (P322S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179322	NM_182614.4(TMEM255B):c.953G>T (p.Gly318Val)	TMEM255B (G270V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179321	NM_182614.4(TMEM255B):c.950C>T (p.Pro317Leu)	TMEM255B (P269L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179320	NM_182614.4(TMEM255B):c.931G>A (p.Ala311Thr)	TMEM255B (A263T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179319	NM_182614.4(TMEM255B):c.881C>T (p.Ser294Phe)	TMEM255B (S294F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179318	NM_182614.4(TMEM255B):c.853G>T (p.Ala285Ser)	TMEM255B (A237S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3179317	NM_182614.4(TMEM255B):c.836C>T (p.Ala279Val)	TMEM255B (A231V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179316	NM_182614.4(TMEM255B):c.778G>A (p.Val260Ile)	TMEM255B (V260I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3179315	NM_182614.4(TMEM255B):c.646G>A (p.Val216Ile)	TMEM255B (V216I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179314	NM_182614.4(TMEM255B):c.547G>C (p.Val183Leu)	TMEM255B (V183L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179313	NM_182614.4(TMEM255B):c.547G>A (p.Val183Ile)	TMEM255B (V183I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3179312	NM_182614.4(TMEM255B):c.413A>G (p.Tyr138Cys)	TMEM255B (Y138C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179311	NM_182614.4(TMEM255B):c.362C>T (p.Thr121Met)	TMEM255B (T121M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179310	NM_182614.4(TMEM255B):c.220G>A (p.Gly74Ser)	TMEM255B (G74S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179309	NM_182614.4(TMEM255B):c.164T>C (p.Val55Ala)	TMEM255B (V55A)	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 3025042	NM_182614.4(TMEM255B):c.698C>T (p.Pro233Leu)	TMEM255B (P233L)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3024583	GRCh37/hg19 13q34(chr13:113158346-115091756)x1	MCF2L, TFDP1 +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 2684712	GRCh37/hg19 13q34(chr13:114459354-114822540)x3	GAS6, RASA3 +2 more	Copy number gain	not provided	GUncertain significance
Select item 2684711	GRCh37/hg19 13q34(chr13:114282014-114568288)x3	ATP4B, GAS6 +2 more	Copy number gain	not provided	GUncertain significance
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 2644015	NM_182614.4(TMEM255B):c.405C>T (p.Tyr135=)	TMEM255B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2644014	NC_000013.11:g.113752689T>C	TMEM255B	Single nucleotide variant	not provided	GLikely benign
Select item 2644013	NC_000013.11:g.113752523C>G	TMEM255B	Single nucleotide variant	not provided	GLikely benign
Select item 2604263	NM_182614.4(TMEM255B):c.751G>A (p.Ala251Thr)	TMEM255B (A251T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2590429	NM_182614.4(TMEM255B):c.544G>A (p.Gly182Ser)	TMEM255B (G182S)	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 2524502	NM_182614.4(TMEM255B):c.428C>T (p.Thr143Ile)	TMEM255B (T143I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519645	NM_182614.4(TMEM255B):c.406G>A (p.Asp136Asn)	TMEM255B (D136N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508870	NM_182614.4(TMEM255B):c.127G>A (p.Gly43Arg)	TMEM255B (G43R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454562	NM_182614.4(TMEM255B):c.743T>C (p.Leu248Pro)	TMEM255B (L248P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2411849	NM_182614.4(TMEM255B):c.11C>G (p.Pro4Arg)	TMEM255B (P4R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343278	NM_182614.4(TMEM255B):c.68A>G (p.Lys23Arg)	TMEM255B (K23R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327107	NM_182614.4(TMEM255B):c.319G>A (p.Gly107Ser)	TMEM255B (G107S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314358	NM_182614.4(TMEM255B):c.109G>A (p.Val37Ile)	TMEM255B (V37I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247868	NM_182614.4(TMEM255B):c.898T>G (p.Ser300Ala)	TMEM255B (S300A +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 1808240	GRCh37/hg19 13q34(chr13:114318476-114549197)x3	GAS6, TMEM255B	Copy number gain	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 1707446	GRCh37/hg19 13q34(chr13:114086431-114753211)x3	ADPRHL1, ATP4B +7 more	Copy number gain	See cases	GUncertain significance
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 1340720	GRCh37/hg19 13q34(chr13:113626234-115107733)x3	ADPRHL1, ATP4B +18 more	Copy number gain	not provided	GLikely pathogenic
Select item 1340607	GRCh37/hg19 13q34(chr13:114263719-114861495)x3	ATP4B, GAS6 +4 more	Copy number gain	not provided	GUncertain significance
Select item 1338738	NC_000013.11:g.109179481_114327244del	ADPRHL1, ANKRD10 +261 more	Deletion	Factor X 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 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 685672	GRCh37/hg19 13q34(chr13:114271714-114591051)x3	ATP4B, GAS6 +2 more	Copy number gain	not provided	GUncertain significance
Select item 685597	GRCh37/hg19 13q34(chr13:114270620-114808264)x3	ATP4B, GAS6 +4 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 443213	GRCh37/hg19 13q31.1-34(chr13:83435292-115107733)x3	ABHD13, ADPRHL1 +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
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)	ABCC4, ABHD13 +332 more	Copy number gain	See cases	GPathogenic

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