Total 62 pathogenic variants reported for Trichothiodystrophy 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_138701.4(MPLKIP):c.430A>G (p.Met144Val) SNV
Germline		 Chr7:40133169 Pathogenic Trichothiodystrophy 4, nonphotosensitive
Condition: not provided		 Criteria Provided
Single Submitter
 CA115222 rs_137853117

2 SubmittersRCV000001918RCV002512662
NM_207118.3(GTF2H5):c.166C>T (p.Arg56Ter) SNV
Germline		 Chr6:158192107 Pathogenic/Likely pathogenic Trichothiodystrophy 3, photosensitive
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA115339 rs_121434364

3 SubmittersRCV000002184RCV000377505
NM_207118.3(GTF2H5):c.62T>C (p.Leu21Pro) SNV
Germline		 Chr6:158192003 Pathogenic Trichothiodystrophy 3, photosensitive No Assertion Criteria Provided
 CA115342 rs_121434365

1 SubmittersRCV000002185
NM_000122.2(ERCC3):c.355A>C (p.Thr119Pro) SNV
Germline		 Chr2:127292726 Pathogenic Trichothiodystrophy 2, photosensitive No Assertion Criteria Provided
 CA126690 rs_121913046

1 SubmittersRCV000018052
NM_000122.2(ERCC3):c.1273C>T (p.Arg425Ter) SNV
Germline		 Chr2:127286772 Pathogenic Xeroderma pigmentosum group B
Condition: not provided
Inborn genetic diseases
Trichothiodystrophy 2, photosensitive		 Criteria Provided
Multiple Submitters
No Conflicts
 CA257545 rs_121913047

5 SubmittersRCV000018053RCV001851900RCV002513092RCV004541009
NM_000400.4(ERCC2):c.1381C>G (p.Leu461Val) SNV
Germline		 Chr19:45357368 Conflicting classifications of pathogenicity Xeroderma pigmentosum, group D
not specified
Trichothiodystrophy 1, photosensitive
Condition: not provided
Xeroderma pigmentosum
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA158746 rs_121913016

12 SubmittersRCV000018267RCV000120764RCV000171546RCV000897210RCV002256001RCV002513097
NM_000400.4(ERCC2):c.2173G>C (p.Ala725Pro) SNV
Germline		 Chr19:45352226 Pathogenic/Likely pathogenic Trichothiodystrophy 1, photosensitive
Condition: not provided
Trichothiodystrophy 1, photosensitive
Cerebrooculofacioskeletal syndrome 2
Xeroderma pigmentosum, group D
Xeroderma pigmentosum
Inborn genetic diseases
Cerebrooculofacioskeletal syndrome 2		 Criteria Provided
Multiple Submitters
No Conflicts
 CA126881 rs_121913018

7 SubmittersRCV000018270RCV001851906RCV002490383RCV003155035RCV003343601RCV003460482
NM_000400.4(ERCC2):c.335G>A (p.Arg112His) SNV
Germline		 Chr19:45368655 Pathogenic Xeroderma pigmentosum, group D
Trichothiodystrophy 1, photosensitive
Condition: not provided
Cerebrooculofacioskeletal syndrome 2		 Criteria Provided
Multiple Submitters
No Conflicts
 CA126883 rs_121913020

6 SubmittersRCV000018274RCV000018273RCV000424822RCV003466865
NM_000400.4(ERCC2):c.1972C>T (p.Arg658Cys) SNV
Germline		 Chr19:45352580 Pathogenic/Likely pathogenic Trichothiodystrophy 1, photosensitive
Condition: not provided
Ovarian cancer
Cerebrooculofacioskeletal syndrome 2
Trichothiodystrophy 1, photosensitive
Cerebrooculofacioskeletal syndrome 2
Xeroderma pigmentosum, group D		 Criteria Provided
Multiple Submitters
No Conflicts
 CA126885 rs_121913021

6 SubmittersRCV000018275RCV002513098RCV003153304RCV003460483RCV002482884
NM_000400.4(ERCC2):c.2164C>T (p.Arg722Trp) SNV
Germline		 Chr19:45352235 Pathogenic Trichothiodystrophy 1, photosensitive
Condition: not provided
Cerebrooculofacioskeletal syndrome 2
Cerebrooculofacioskeletal syndrome 2
Trichothiodystrophy 1, photosensitive
Xeroderma pigmentosum, group D
Trichothiodystrophy
Hypotrichosis simplex
ERCC2-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA126893 rs_121913026

15 SubmittersRCV000018283RCV000255624RCV000677676RCV000763052RCV001199920RCV001449816RCV004532382
NM_000400.4(ERCC2):c.2047C>T (p.Arg683Trp) SNV
Germline		 Chr19:45352352 Pathogenic/Likely pathogenic Xeroderma pigmentosum, group D
Condition: not provided
Inborn genetic diseases
Cerebrooculofacioskeletal syndrome 2
Trichothiodystrophy 1, photosensitive
Xeroderma pigmentosum, group D
Cerebrooculofacioskeletal syndrome 2		 Criteria Provided
Multiple Submitters
No Conflicts
 CA257630 rs_41556519

8 SubmittersRCV000018284RCV000518900RCV000623275RCV000763053RCV003460484
NM_000400.4(ERCC2):c.47A>G (p.Tyr16Cys) SNV
Germline		 Chr19:45370191 Conflicting classifications of pathogenicity not specified
Xeroderma pigmentosum, group D
Trichothiodystrophy 1, photosensitive
Cerebrooculofacioskeletal syndrome 2
Condition: not provided
Xeroderma pigmentosum
ERCC2-related disorder
Ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA158761 rs_147972150

7 SubmittersRCV000120770RCV001136196RCV001292799RCV001329858RCV000893772RCV002258797RCV004542872RCV003153388
NM_000400.4(ERCC2):c.2150C>G (p.Ala717Gly) SNV
Germline		 Chr19:45352249 Conflicting classifications of pathogenicity not specified
Condition: not provided
ERCC2-related disorder
Mixed Phenotype Acute Leukemia, T/Myeloid, Not Otherwise Specified
Trichothiodystrophy 1, photosensitive
Xeroderma pigmentosum, group D
Xeroderma pigmentosum
Cerebrooculofacioskeletal syndrome 2
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA158773 rs_144564120

13 SubmittersRCV000120774RCV000255243RCV000778547RCV000761018RCV001329855RCV000990227RCV003114266RCV003467078RCV002515854
NM_000122.2(ERCC3):c.847C>T (p.Arg283Cys) SNV
Germline		 Chr2:127288840 Conflicting classifications of pathogenicity not specified
Xeroderma pigmentosum group B
Trichothiodystrophy 2, photosensitive
Xeroderma pigmentosum group B
Trichothiodystrophy 2, photosensitive
Condition: not provided
Xeroderma pigmentosum
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA248735 rs_145201970

11 SubmittersRCV000120800RCV000765502RCV001129472RCV001294157RCV001362006RCV002257425RCV004019680
NM_006978.3(RNF113A):c.901C>T (p.Gln301Ter) SNV
Germline		 ChrX:119870713 Pathogenic Trichothiodystrophy 5, nonphotosensitive No Assertion Criteria Provided
 CA200233 rs_794726863

1 SubmittersRCV000173011
NM_138701.4(MPLKIP):c.339+1G>A SNV
Germline		 Chr7:40134228 Pathogenic Trichothiodystrophy 4, nonphotosensitive Criteria Provided
Single Submitter
 CA354090 rs_869312900

1 SubmittersRCV000210474
NM_002095.6(GTF2E2):c.448G>C (p.Ala150Pro) SNV
Germline		 Chr8:30612400 Pathogenic Trichothiodystrophy 6, nonphotosensitive No Assertion Criteria Provided
 CA10576099 rs_875989846

1 SubmittersRCV000211060
NM_002095.6(GTF2E2):c.559G>T (p.Asp187Tyr) SNV
Germline		 Chr8:30607141 Pathogenic Trichothiodystrophy 6, nonphotosensitive Criteria Provided
Single Submitter
 CA10576100 rs_875989847

2 SubmittersRCV000211077
NM_000400.4(ERCC2):c.2048G>A (p.Arg683Gln) SNV
Germline		 Chr19:45352351 Pathogenic Xeroderma pigmentosum, group D
Condition: not provided
Cerebrooculofacioskeletal syndrome 2
Cerebrooculofacioskeletal syndrome 2
Xeroderma pigmentosum, group D
Trichothiodystrophy 1, photosensitive		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10587999 rs_758439420

5 SubmittersRCV000248679RCV000812198RCV003463714RCV002487166
NM_000122.2(ERCC3):c.325C>T (p.Arg109Ter) SNV
Germline		 Chr2:127292756 Pathogenic/Likely pathogenic Condition: not provided
Xeroderma pigmentosum group B
Xeroderma pigmentosum
Xeroderma pigmentosum group B
Trichothiodystrophy 2, photosensitive		 Criteria Provided
Multiple Submitters
No Conflicts
 CA090899 rs_34295337

11 SubmittersRCV000255849RCV000986812RCV001175535RCV002487171
NM_000400.4(ERCC2):c.1847G>C (p.Arg616Pro) SNV
Germline		 Chr19:45352801 Pathogenic Xeroderma pigmentosum, group D
Condition: not provided
Cerebrooculofacioskeletal syndrome 2
Xeroderma pigmentosum, group D
Trichothiodystrophy 1, photosensitive
Xeroderma pigmentosum
Inborn genetic diseases
Cerebrooculofacioskeletal syndrome 2		 Criteria Provided
Multiple Submitters
No Conflicts
 CA9513025 rs_376556895

11 SubmittersRCV000312948RCV000489442RCV000763054RCV001195426RCV002523070RCV003470315
NM_207118.3(GTF2H5):c.36-2A>G SNV
Germline		 Chr6:158191975 Likely pathogenic Trichothiodystrophy 3, photosensitive Criteria Provided
Single Submitter
 rs_765378190

1 SubmittersRCV000714570
NM_000400.4(ERCC2):c.1636G>A (p.Glu546Lys) SNV
Unknown		 Chr19:45354759 Likely pathogenic Trichothiodystrophy Criteria Provided
Single Submitter
 rs_769146546

1 SubmittersRCV000785056
NM_152295.5(TARS1):c.1912C>T (p.Arg638Ter) SNV
Germline		 Chr5:33466874 Pathogenic Trichothiodystrophy 7, nonphotosensitive No Assertion Criteria Provided
 rs_749888012

1 SubmittersRCV000850111
NM_152295.5(TARS1):c.826A>G (p.Lys276Glu) SNV
Germline		 Chr5:33456216 Pathogenic Trichothiodystrophy 7, nonphotosensitive No Assertion Criteria Provided
 rs_1579585658

1 SubmittersRCV000850112
NM_152295.5(TARS1):c.680T>C (p.Leu227Pro) SNV
Germline		 Chr5:33455691 Pathogenic Trichothiodystrophy 7, nonphotosensitive No Assertion Criteria Provided
 rs_1579584983

1 SubmittersRCV000850113
NM_000122.2(ERCC3):c.417C>T (p.Tyr139=) SNV
Germline		 Chr2:127292664 Conflicting classifications of pathogenicity Condition: not provided
Trichothiodystrophy 2, photosensitive
ERCC3-related disorder		 Criteria Provided
Conflicting Classifications
 rs_529637184

6 SubmittersRCV000894918RCV001294156RCV003958021
NM_000400.4(ERCC2):c.2191-4G>A SNV
Germline		 Chr19:45351725 Conflicting classifications of pathogenicity Condition: not provided
Xeroderma pigmentosum, group D
Xeroderma pigmentosum
Trichothiodystrophy 1, photosensitive		 Criteria Provided
Conflicting Classifications
 rs_201840907

4 SubmittersRCV000967520RCV001135983RCV002256635RCV001294171
NM_000400.4(ERCC2):c.1339G>A (p.Val447Ile) SNV
Germline		 Chr19:45357512 Conflicting classifications of pathogenicity Xeroderma pigmentosum, group D
Trichothiodystrophy 1, photosensitive
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_141457460

3 SubmittersRCV001136105RCV001294169RCV003405337
NM_207118.3(GTF2H5):c.163G>T (p.Glu55Ter) SNV
Germline		 Chr6:158192104 Pathogenic Trichothiodystrophy 3, photosensitive No Assertion Criteria Provided
 rs_1777038679

1 SubmittersRCV001251629
NM_207118.3(GTF2H5):c.49A>T (p.Lys17Ter) SNV
Germline		 Chr6:158191990 Pathogenic Trichothiodystrophy 3, photosensitive No Assertion Criteria Provided
 rs_1777036380

1 SubmittersRCV001251630
NM_207118.3(GTF2H5):c.29T>A (p.Ile10Lys) SNV
Germline		 Chr6:158170532 Pathogenic Trichothiodystrophy 3, photosensitive No Assertion Criteria Provided
 rs_1785841426

1 SubmittersRCV001251631
NM_000400.4(ERCC2):c.1847G>A (p.Arg616Gln) SNV
Germline		 Chr19:45352801 Conflicting classifications of pathogenicity Trichothiodystrophy 1, photosensitive
Condition: not provided
Xeroderma pigmentosum
Cerebrooculofacioskeletal syndrome 2
ERCC2-related disorder		 Criteria Provided
Conflicting Classifications
 rs_376556895

5 SubmittersRCV001292729RCV001780237RCV002256728RCV003469508RCV004531070
NM_000400.4(ERCC2):c.595-10G>A SNV
Germline		 Chr19:45364557 Conflicting classifications of pathogenicity Trichothiodystrophy 1, photosensitive
Condition: not provided
Xeroderma pigmentosum		 Criteria Provided
Conflicting Classifications
 rs_761737358

3 SubmittersRCV001331198RCV001871815RCV003387999
NM_000400.4(ERCC2):c.334C>T (p.Arg112Cys) SNV
Unknown		 Chr19:45368656 Likely pathogenic Trichothiodystrophy 1, photosensitive
Cerebrooculofacioskeletal syndrome 2		 Criteria Provided
Single Submitter
 rs_760820378

1 SubmittersRCV001329857RCV003469559
NM_000400.4(ERCC2):c.2195A>G (p.Asp732Gly) SNV
Germline		 Chr19:45351717 Conflicting classifications of pathogenicity Trichothiodystrophy 1, photosensitive
Condition: not provided
Cerebrooculofacioskeletal syndrome 2		 Criteria Provided
Conflicting Classifications
 rs_201828535

3 SubmittersRCV001788837RCV002077207RCV004571087
NM_000400.4(ERCC2):c.1984C>T (p.Gln662Ter) SNV
Germline		 Chr19:45352568 Pathogenic Condition: not provided
Trichothiodystrophy 1, photosensitive
Cerebrooculofacioskeletal syndrome 2		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_778479250

5 SubmittersRCV001837550RCV002291301RCV003470890
NM_000122.2(ERCC3):c.1162C>T (p.Gln388Ter) SNV
Germline		 Chr2:127286883 Pathogenic/Likely pathogenic Condition: not provided
Xeroderma pigmentosum group B
Trichothiodystrophy 2, photosensitive		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1055129064

2 SubmittersRCV001780443RCV002478003
NM_000400.4(ERCC2):c.1972C>G (p.Arg658Gly) SNV
Germline		 Chr19:45352580 Likely pathogenic Trichothiodystrophy 1, photosensitive
Xeroderma pigmentosum, group D		 Criteria Provided
Single Submitter
 rs_121913021

1 SubmittersRCV001799560
NM_001605.3(AARS1):c.2702G>A (p.Cys901Tyr) SNV
Germline		 Chr16:70253287 Pathogenic Trichothiodystrophy 8, nonphotosensitive No Assertion Criteria Provided
 rs_2152149706

1 SubmittersRCV001804212
NM_000400.4(ERCC2):c.1996C>T (p.Arg666Trp) SNV
Germline		 Chr19:45352556 Pathogenic Condition: not provided
Cerebrooculofacioskeletal syndrome 2
Trichothiodystrophy 1, photosensitive		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_752510317

3 SubmittersRCV001947789RCV003471050RCV003992580
NM_000122.2(ERCC3):c.1720C>T (p.Arg574Ter) SNV
Germline		 Chr2:127279183 Pathogenic/Likely pathogenic Condition: not provided
Xeroderma pigmentosum group B
Trichothiodystrophy 2, photosensitive		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_768687646

2 SubmittersRCV001935189RCV002507014
NM_000400.4(ERCC2):c.2191-1G>A SNV
Germline		 Chr19:45351722 Pathogenic Trichothiodystrophy 1, photosensitive No Assertion Criteria Provided

1 SubmittersRCV002292387
NM_001605.3(AARS1):c.673G>C (p.Glu225Gln) SNV
Germline		 Chr16:70270339 Likely pathogenic Trichothiodystrophy 8, nonphotosensitive Criteria Provided
Single Submitter

1 SubmittersRCV003990408