Total 75 pathogenic variants reported for Epidermodysplasia verruciformis 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_152468.5(TMC8):c.1084G>T (p.Glu362Ter) SNV
Germline		 Chr17:78134966 Pathogenic Epidermodysplasia verruciformis, susceptibility to, 2
Epidermodysplasia verruciformis		 Criteria Provided
Single Submitter
 CA117047 rs_121908330

2 SubmittersRCV000005013RCV001390398
NM_001127198.5(TMC6):c.280C>T (p.Arg94Ter) SNV
Germline		 Chr17:78125876 Pathogenic Epidermodysplasia verruciformis, susceptibility to, 1
Epidermodysplasia verruciformis		 Criteria Provided
Single Submitter
 CA117050 rs_121908327

2 SubmittersRCV000005014RCV002512791
NM_001127198.5(TMC6):c.744C>A (p.Tyr248Ter) SNV
Germline		 Chr17:78124671 Pathogenic Epidermodysplasia verruciformis, susceptibility to, 1
Epidermodysplasia verruciformis		 Criteria Provided
Single Submitter
 CA117056 rs_121908329

2 SubmittersRCV000005016RCV001851659
NM_001127198.5(TMC6):c.892-2A>T SNV
Germline		 Chr17:78124181 Pathogenic Epidermodysplasia verruciformis, susceptibility to, 1
Epidermodysplasia verruciformis		 Criteria Provided
Single Submitter
 CA212816 rs_769471844

2 SubmittersRCV000005017RCV002227995
NM_152468.5(TMC8):c.1168G>A (p.Val390Ile) SNV
Germline		 Chr17:78137275 Conflicting classifications of pathogenicity Epidermodysplasia verruciformis
Epidermodysplasia verruciformis, susceptibility to, 1
Condition: not provided
Epidermodysplasia verruciformis, susceptibility to, 2
TMC8-related disorder		 Criteria Provided
Conflicting Classifications
 CA8796745 rs_150546646

5 SubmittersRCV000542077RCV001281052RCV001703186RCV003224314RCV003925579
NM_152468.5(TMC8):c.1982C>T (p.Pro661Leu) SNV
Germline		 Chr17:78140913 Conflicting classifications of pathogenicity Epidermodysplasia verruciformis
Epidermodysplasia verruciformis, susceptibility to, 2
Epidermodysplasia verruciformis, susceptibility to, 1
TMC8-related disorder
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA8797112 rs_139972217

4 SubmittersRCV000530925RCV003224315RCV002060293RCV003915482RCV003884596
NM_152468.5(TMC8):c.1364G>A (p.Arg455Gln) SNV
Germline		 Chr17:78138019 Conflicting classifications of pathogenicity Epidermodysplasia verruciformis, susceptibility to, 1
Epidermodysplasia verruciformis
Condition: not provided
Epidermodysplasia verruciformis, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA8796853 rs_151076155

4 SubmittersRCV000630738RCV000859959RCV001729665RCV003224352
NM_001127198.5(TMC6):c.1214G>A (p.Arg405His) SNV
Germline		 Chr17:78122618 Conflicting classifications of pathogenicity Epidermodysplasia verruciformis
Epidermodysplasia verruciformis, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA8795833 rs_149023121

2 SubmittersRCV000630742RCV001281050
NM_152468.5(TMC8):c.256C>G (p.Arg86Gly) SNV
Germline		 Chr17:78131988 Conflicting classifications of pathogenicity Epidermodysplasia verruciformis
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA8796376 rs_537981704

2 SubmittersRCV000630741RCV002528842
NM_001127198.5(TMC6):c.1811+1G>A SNV
Germline		 Chr17:78119296 Likely pathogenic Epidermodysplasia verruciformis Criteria Provided
Single Submitter
 rs_1567989416

1 SubmittersRCV002534420
NM_001127198.5(TMC6):c.1292C>T (p.Ala431Val) SNV
Germline		 Chr17:78121647 Conflicting classifications of pathogenicity Epidermodysplasia verruciformis
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 rs_200760468

2 SubmittersRCV002233570RCV002531474
NM_152468.5(TMC8):c.1128-6C>T SNV
Germline		 Chr17:78137229 Conflicting classifications of pathogenicity Epidermodysplasia verruciformis
Epidermodysplasia verruciformis, susceptibility to, 2
TMC8-related disorder		 Criteria Provided
Conflicting Classifications
 rs_1002758195

3 SubmittersRCV000693845RCV002485667RCV003965442
NM_152468.5(TMC8):c.1577G>A (p.Arg526His) SNV
Germline		 Chr17:78138392 Conflicting classifications of pathogenicity Epidermodysplasia verruciformis
Inborn genetic diseases
TMC8-related disorder		 Criteria Provided
Conflicting Classifications
 rs_201477740

3 SubmittersRCV000700258RCV002533587RCV003965449
NM_006384.4(CIB1):c.214C>T (p.Arg72Ter) SNV
Germline		 Chr15:90231489 Pathogenic Epidermodysplasia verruciformis, susceptibility to, 3
Condition: not provided		 Criteria Provided
Single Submitter
 rs_143773090

2 SubmittersRCV000735848RCV001869011
NM_001127198.5(TMC6):c.633+8C>T SNV
Germline		 Chr17:78124881 Conflicting classifications of pathogenicity Epidermodysplasia verruciformis, susceptibility to, 1
Epidermodysplasia verruciformis
TMC6-related disorder		 Criteria Provided
Conflicting Classifications
 rs_369450669

3 SubmittersRCV000768339RCV001487117RCV003918256
NM_152468.5(TMC8):c.175C>T (p.Gln59Ter) SNV
Germline		 Chr17:78131907 Pathogenic Epidermodysplasia verruciformis Criteria Provided
Single Submitter
 rs_1598895511

1 SubmittersRCV002234348
NM_152468.5(TMC8):c.884G>A (p.Arg295His) SNV
Germline		 Chr17:78134461 Conflicting classifications of pathogenicity Epidermodysplasia verruciformis
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 rs_373918852

2 SubmittersRCV000803583RCV003166231
NM_001127198.5(TMC6):c.892-2A>G SNV
Germline		 Chr17:78124181 Likely pathogenic Epidermodysplasia verruciformis Criteria Provided
Single Submitter
 rs_769471844

1 SubmittersRCV002235403
NM_001127198.5(TMC6):c.2384C>T (p.Pro795Leu) SNV
Germline		 Chr17:78113182 Conflicting classifications of pathogenicity Epidermodysplasia verruciformis
Epidermodysplasia verruciformis, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 rs_140852551

2 SubmittersRCV000973808RCV002066439
NM_001127198.5(TMC6):c.1237G>C (p.Ala413Pro) SNV
Germline		 Chr17:78121702 Conflicting classifications of pathogenicity Epidermodysplasia verruciformis
Inborn genetic diseases
TMC6-related disorder		 Criteria Provided
Conflicting Classifications
 rs_555453763

3 SubmittersRCV000970670RCV002548348RCV003943204
NM_152468.5(TMC8):c.1462G>A (p.Gly488Ser) SNV
Germline		 Chr17:78138117 Conflicting classifications of pathogenicity Epidermodysplasia verruciformis
Inborn genetic diseases
TMC8-related disorder		 Criteria Provided
Conflicting Classifications
 rs_139756868

3 SubmittersRCV000972028RCV002548362RCV003943215
NM_001127198.5(TMC6):c.986C>T (p.Thr329Ile) SNV
Germline		 Chr17:78124085 Conflicting classifications of pathogenicity Epidermodysplasia verruciformis
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 rs_143662903

2 SubmittersRCV000902902RCV002542065
NM_152468.5(TMC8):c.118C>G (p.Pro40Ala) SNV
Germline		 Chr17:78131706 Conflicting classifications of pathogenicity Epidermodysplasia verruciformis
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 rs_374017520

2 SubmittersRCV000932934RCV002544464
NM_001127198.5(TMC6):c.2022-1G>C SNV
Germline		 Chr17:78117645 Likely pathogenic Epidermodysplasia verruciformis Criteria Provided
Single Submitter
 rs_202217062

1 SubmittersRCV001056974
NM_001127198.5(TMC6):c.306C>A (p.Tyr102Ter) SNV
Germline		 Chr17:78125850 Pathogenic Epidermodysplasia verruciformis Criteria Provided
Single Submitter
 rs_371786754

1 SubmittersRCV001201839
NM_152468.5(TMC8):c.449-1G>T SNV
Germline		 Chr17:78132787 Likely pathogenic Epidermodysplasia verruciformis Criteria Provided
Single Submitter
 rs_377668069

1 SubmittersRCV001204473
NM_001127198.5(TMC6):c.1383+1G>A SNV
Germline		 Chr17:78121555 Likely pathogenic Epidermodysplasia verruciformis Criteria Provided
Single Submitter
 rs_2074414994

1 SubmittersRCV001238118
NM_152468.5(TMC8):c.1128-2A>G SNV
Germline		 Chr17:78137233 Likely pathogenic Epidermodysplasia verruciformis Criteria Provided
Single Submitter
 rs_761256523

1 SubmittersRCV001236391
NM_152468.5(TMC8):c.669-2A>C SNV
Germline		 Chr17:78133851 Likely pathogenic Epidermodysplasia verruciformis Criteria Provided
Single Submitter
 rs_2075127396

1 SubmittersRCV001241986
NM_152468.5(TMC8):c.665G>A (p.Arg222Gln) SNV
Germline		 Chr17:78133539 Conflicting classifications of pathogenicity Epidermodysplasia verruciformis
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 rs_779111855

2 SubmittersRCV001340089RCV002547396
NM_152468.5(TMC8):c.568C>T (p.Arg190Ter) SNV
Germline		 Chr17:78133442 Pathogenic Epidermodysplasia verruciformis Criteria Provided
Single Submitter
 rs_903461633

1 SubmittersRCV001380265
NM_001127198.5(TMC6):c.526C>T (p.Arg176Cys) SNV
Germline		 Chr17:78125168 Conflicting classifications of pathogenicity Epidermodysplasia verruciformis
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 rs_112743475

2 SubmittersRCV001453366RCV002560336
NM_152468.5(TMC8):c.1729G>T (p.Glu577Ter) SNV
Germline		 Chr17:78138638 Pathogenic Epidermodysplasia verruciformis Criteria Provided
Single Submitter
 rs_764753165

1 SubmittersRCV001868870
NM_001127198.5(TMC6):c.190C>T (p.Gln64Ter) SNV
Germline		 Chr17:78126358 Pathogenic Epidermodysplasia verruciformis Criteria Provided
Single Submitter
 rs_1296234074

1 SubmittersRCV001950856
NM_152468.5(TMC8):c.1824-1G>C SNV
Germline		 Chr17:78139161 Pathogenic/Likely pathogenic Epidermodysplasia verruciformis
Epidermodysplasia verruciformis, susceptibility to, 2		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_369371040

2 SubmittersRCV002039234RCV003989720
NM_001127198.5(TMC6):c.170G>A (p.Arg57Gln) SNV
Germline		 Chr17:78126535 Conflicting classifications of pathogenicity Epidermodysplasia verruciformis
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 rs_1036125960

2 SubmittersRCV001946124RCV004042100
NM_001127198.5(TMC6):c.2033C>A (p.Ser678Ter) SNV
Germline		 Chr17:78117633 Pathogenic Epidermodysplasia verruciformis Criteria Provided
Single Submitter
 rs_749657465

1 SubmittersRCV001950983
NM_152468.5(TMC8):c.987+2T>A SNV
Germline		 Chr17:78134566 Likely pathogenic Epidermodysplasia verruciformis Criteria Provided
Single Submitter
 rs_2145664236

1 SubmittersRCV002036288
NM_001127198.5(TMC6):c.2211C>A (p.Tyr737Ter) SNV
Germline		 Chr17:78117335 Pathogenic Epidermodysplasia verruciformis Criteria Provided
Single Submitter
 rs_758514260

1 SubmittersRCV001963266
NM_001127198.5(TMC6):c.1177C>T (p.Gln393Ter) SNV
Germline		 Chr17:78122655 Pathogenic Epidermodysplasia verruciformis Criteria Provided
Single Submitter
 rs_776505795

1 SubmittersRCV001948731
NM_152468.5(TMC8):c.987+1G>A SNV
Germline		 Chr17:78134565 Likely pathogenic Epidermodysplasia verruciformis Criteria Provided
Single Submitter

1 SubmittersRCV002624108
NM_152468.5(TMC8):c.1534-1G>C SNV
Germline		 Chr17:78138348 Likely pathogenic Epidermodysplasia verruciformis Criteria Provided
Single Submitter

1 SubmittersRCV002815589
NM_001127198.5(TMC6):c.115C>T (p.Gln39Ter) SNV
Germline		 Chr17:78126590 Pathogenic Epidermodysplasia verruciformis Criteria Provided
Single Submitter

1 SubmittersRCV003760815
NM_001127198.5(TMC6):c.2266C>T (p.Gln756Ter) SNV
Germline		 Chr17:78117280 Pathogenic Epidermodysplasia verruciformis Criteria Provided
Single Submitter

1 SubmittersRCV003759530
NM_152468.5(TMC8):c.1664+1G>A SNV
Germline		 Chr17:78138480 Likely pathogenic Epidermodysplasia verruciformis Criteria Provided
Single Submitter

1 SubmittersRCV003761153
NM_006384.4(CIB1):c.465+1G>A SNV
Germline		 Chr15:90231094 Likely pathogenic Epidermodysplasia verruciformis, susceptibility to, 3 Criteria Provided
Single Submitter

1 SubmittersRCV003990538