TMEM255B[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 2644013	NC_000013.11:g.113752523C>G	TMEM255B	Single nucleotide variant	not provided	GLikely benign
Select item 2644014	NC_000013.11:g.113752689T>C	TMEM255B	Single nucleotide variant	not provided	GLikely benign
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 3327039	NM_182614.4(TMEM255B):c.44C>T (p.Ala15Val)	TMEM255B (A15V)	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 2314358	NM_182614.4(TMEM255B):c.109G>A (p.Val37Ile)	TMEM255B (V37I)	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 3179309	NM_182614.4(TMEM255B):c.164T>C (p.Val55Ala)	TMEM255B (V55A)	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 2327107	NM_182614.4(TMEM255B):c.319G>A (p.Gly107Ser)	TMEM255B (G107S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327036	NM_182614.4(TMEM255B):c.337C>T (p.His113Tyr)	TMEM255B (H113Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327041	NM_182614.4(TMEM255B):c.359C>G (p.Thr120Ser)	TMEM255B (T120S)	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 2644015	NM_182614.4(TMEM255B):c.405C>T (p.Tyr135=)	TMEM255B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3179312	NM_182614.4(TMEM255B):c.413A>G (p.Tyr138Cys)	TMEM255B (Y138C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2590429	NM_182614.4(TMEM255B):c.544G>A (p.Gly182Ser)	TMEM255B (G182S)	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 3179315	NM_182614.4(TMEM255B):c.646G>A (p.Val216Ile)	TMEM255B (V216I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327037	NM_182614.4(TMEM255B):c.668T>C (p.Met223Thr)	TMEM255B (M223T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3327040	NM_182614.4(TMEM255B):c.731C>T (p.Ala244Val)	TMEM255B (A244V)	Single nucleotide variant (missense variant +1 more)	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 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 3327038	NM_182614.4(TMEM255B):c.767C>T (p.Thr256Met)	TMEM255B (T256M)	Single nucleotide variant (missense variant +1 more)	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 3327035	NM_182614.4(TMEM255B):c.791C>T (p.Ser264Leu)	TMEM255B (S264L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3327031	NM_182614.4(TMEM255B):c.829C>T (p.Pro277Ser)	TMEM255B (P229S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 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 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 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 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 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 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 152620	GRCh38/hg38 13q34(chr13:113814432-113825457)x3	GAS6, GAS6-AS1 +4 more	Copy number gain	See cases	GBenign/Likely benign
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
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	ANKRD10, ANKRD10-IT1 +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	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

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