Total 128 pathogenic variants reported for Cerebrooculofacioskeletal syndrome 2 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_000400.4(ERCC2):c.2173G>C (p.Ala725Pro) SNV
Germline		 Chr19:45352226 Pathogenic/Likely pathogenic Condition: not provided
Trichothiodystrophy 1, photosensitive
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 SubmittersRCV001851906RCV000018270RCV002490383RCV003155035RCV003343601RCV003460482
NM_000400.4(ERCC2):c.335G>A (p.Arg112His) SNV
Germline		 Chr19:45368655 Pathogenic Xeroderma pigmentosum, group D
Condition: not provided
Trichothiodystrophy 1, photosensitive
Cerebrooculofacioskeletal syndrome 2		 Criteria Provided
Multiple Submitters
No Conflicts
 CA126883 rs_121913020

6 SubmittersRCV000018274RCV000424822RCV000018273RCV003466865
NM_000400.4(ERCC2):c.1972C>T (p.Arg658Cys) SNV
Germline		 Chr19:45352580 Pathogenic/Likely pathogenic Condition: not provided
Ovarian cancer
Trichothiodystrophy 1, photosensitive
Cerebrooculofacioskeletal syndrome 2
Trichothiodystrophy 1, photosensitive
Cerebrooculofacioskeletal syndrome 2
Xeroderma pigmentosum, group D		 Criteria Provided
Multiple Submitters
No Conflicts
 CA126885 rs_121913021

7 SubmittersRCV002513098RCV003153304RCV000018275RCV003460483RCV002482884
NM_000400.4(ERCC2):c.2041G>A (p.Asp681Asn) SNV
Germline		 Chr19:45352511 Conflicting classifications of pathogenicity Cerebrooculofacioskeletal syndrome 2
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA126889 rs_121913023

4 SubmittersRCV000018277RCV003114198RCV003488344
NM_000400.4(ERCC2):c.1846C>T (p.Arg616Trp) SNV
Germline		 Chr19:45352802 Pathogenic/Likely pathogenic Xeroderma pigmentosum, group D
Cerebrooculofacioskeletal syndrome 2
Condition: not provided
Xeroderma pigmentosum		 Criteria Provided
Multiple Submitters
No Conflicts
 CA126891 rs_121913024

6 SubmittersRCV000018278RCV000171547RCV001582486RCV002468972
NM_000400.4(ERCC2):c.2164C>T (p.Arg722Trp) SNV
Germline		 Chr19:45352235 Pathogenic Trichothiodystrophy 1, photosensitive
Trichothiodystrophy 1, photosensitive
Cerebrooculofacioskeletal syndrome 2
Xeroderma pigmentosum, group D
Trichothiodystrophy
Hypotrichosis simplex
Cerebrooculofacioskeletal syndrome 2
Condition: not provided
ERCC2-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA126893 rs_121913026

16 SubmittersRCV000018283RCV000763052RCV001199920RCV001449816RCV000677676RCV000255624RCV004532382
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
Trichothiodystrophy 1, photosensitive
Cerebrooculofacioskeletal syndrome 2
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
Condition: not provided
Xeroderma pigmentosum, group D
Trichothiodystrophy 1, photosensitive
Cerebrooculofacioskeletal syndrome 2
Xeroderma pigmentosum
Ovarian cancer
ERCC2-related disorder		 Criteria Provided
Conflicting Classifications
 CA158761 rs_147972150

7 SubmittersRCV000120770RCV000893772RCV001136196RCV001292799RCV001329858RCV002258797RCV003153388RCV004542872
NM_000400.4(ERCC2):c.2150C>G (p.Ala717Gly) SNV
Germline		 Chr19:45352249 Pathogenic/Likely pathogenic not specified
Condition: not provided
ERCC2-related disorder
Mixed Phenotype Acute Leukemia, T/Myeloid, Not Otherwise Specified
Xeroderma pigmentosum, group D
Trichothiodystrophy 1, photosensitive
Inborn genetic diseases
Xeroderma pigmentosum
Cerebrooculofacioskeletal syndrome 2		 Criteria Provided
Multiple Submitters
No Conflicts
 CA158773 rs_144564120

13 SubmittersRCV000120774RCV000255243RCV000778547RCV000761018RCV000990227RCV001329855RCV002515854RCV003114266RCV003467078
NM_000400.4(ERCC2):c.2048G>A (p.Arg683Gln) SNV
Germline		 Chr19:45352351 Pathogenic Xeroderma pigmentosum, group D
Condition: not provided
Cerebrooculofacioskeletal syndrome 2
Xeroderma pigmentosum, group D
Trichothiodystrophy 1, photosensitive
Cerebrooculofacioskeletal syndrome 2
Inflammatory bowel disease 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10587999 rs_758439420

6 SubmittersRCV000248679RCV000812198RCV002487166RCV003463714RCV004813082
NM_000400.4(ERCC2):c.183+2T>A SNV
Germline		 Chr19:45369068 Pathogenic/Likely pathogenic Xeroderma pigmentosum, group D
Condition: not provided
Cerebrooculofacioskeletal syndrome 2		 Criteria Provided
Multiple Submitters
No Conflicts
 CA9513899 rs_201127596

5 SubmittersRCV000260066RCV001859951RCV003470317
NM_000400.4(ERCC2):c.1847G>C (p.Arg616Pro) SNV
Germline		 Chr19:45352801 Pathogenic Xeroderma pigmentosum, group D
Condition: not provided
Cerebrooculofacioskeletal syndrome 2
Trichothiodystrophy 1, photosensitive
Xeroderma pigmentosum, group D
Xeroderma pigmentosum
Cerebrooculofacioskeletal syndrome 2
Inborn genetic diseases		 Criteria Provided
Multiple Submitters
No Conflicts
 CA9513025 rs_376556895

11 SubmittersRCV000312948RCV000489442RCV000763054RCV001195426RCV003470315RCV002523070
NM_000400.4(ERCC2):c.776G>A (p.Cys259Tyr) SNV
Germline		 Chr19:45364274 Likely pathogenic ERCC2-related disorder
Condition: not provided
Xeroderma pigmentosum
Cerebrooculofacioskeletal syndrome 2		 Criteria Provided
Multiple Submitters
No Conflicts
 CA9513634 rs_370454709

5 SubmittersRCV000349442RCV000435999RCV002256206RCV003470316
NM_000400.4(ERCC2):c.1666-2A>T SNV
Germline		 Chr19:45353336 Pathogenic/Likely pathogenic Condition: not provided
Cerebrooculofacioskeletal syndrome 2		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16620862 rs_199658345

3 SubmittersRCV000479437RCV003470562
NM_000400.4(ERCC2):c.2046+1G>T SNV
Germline		 Chr19:45352505 Pathogenic/Likely pathogenic Condition: not provided
Cerebrooculofacioskeletal syndrome 2		 Criteria Provided
Multiple Submitters
No Conflicts
 CA406362661 rs_774768228

2 SubmittersRCV000591465RCV003459471
NM_000400.4(ERCC2):c.2092C>T (p.Gln698Ter) SNV
Unknown		 Chr19:45352307 Likely pathogenic Cerebrooculofacioskeletal syndrome 2 Criteria Provided
Single Submitter
 rs_1555775416

1 SubmittersRCV000677677
NM_000400.4(ERCC2):c.816-2A>G SNV
Germline		 Chr19:45364121 Pathogenic/Likely pathogenic Xeroderma pigmentosum, group D
Condition: not provided
Cerebrooculofacioskeletal syndrome 2
Xeroderma pigmentosum		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_746795177

4 SubmittersRCV000778549RCV002535637RCV004569485RCV004800582
NM_000400.4(ERCC2):c.466C>T (p.Arg156Ter) SNV
Germline		 Chr19:45365053 Pathogenic/Likely pathogenic ERCC2-related disorder
Condition: not provided
Cerebrooculofacioskeletal syndrome 2		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_151235136

3 SubmittersRCV000784900RCV003558587RCV003461060
NM_000400.4(ERCC2):c.567G>A (p.Trp189Ter) SNV
Germline/somatic		 Chr19:45364865 Pathogenic/Likely pathogenic Condition: not provided
Malignant tumor of urinary bladder
Cerebrooculofacioskeletal syndrome 2		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_377532898

3 SubmittersRCV001008703RCV003332278RCV004569852
NM_000400.4(ERCC2):c.5+2T>A SNV
Germline		 Chr19:45370534 Pathogenic/Likely pathogenic Cerebrooculofacioskeletal syndrome 2
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1599753508

2 SubmittersRCV003469289RCV001092422
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.334C>T (p.Arg112Cys) SNV
Germline		 Chr19:45368656 Conflicting classifications of pathogenicity Trichothiodystrophy 1, photosensitive
Cerebrooculofacioskeletal syndrome 2
not specified		 Criteria Provided
Conflicting Classifications
 rs_760820378

2 SubmittersRCV001329857RCV003469559RCV004690082
NM_000400.4(ERCC2):c.2143C>T (p.Gln715Ter) SNV
Germline		 Chr19:45352256 Conflicting classifications of pathogenicity Condition: not provided
Cerebrooculofacioskeletal syndrome 2		 Criteria Provided
Conflicting Classifications
 rs_774392894

3 SubmittersRCV001765013RCV003464127
NM_000400.4(ERCC2):c.1377+2T>C SNV
Germline		 Chr19:45357472 Conflicting classifications of pathogenicity Condition: not provided
Cerebrooculofacioskeletal syndrome 2		 Criteria Provided
Conflicting Classifications
 rs_201505264

3 SubmittersRCV001774101RCV003470884
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

6 SubmittersRCV001837550RCV002291301RCV003470890
NM_000400.4(ERCC2):c.1759-2A>G SNV
Germline		 Chr19:45353157 Pathogenic/Likely pathogenic Cerebrooculofacioskeletal syndrome 2
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_774936846

3 SubmittersRCV003470891RCV003237447
NM_000400.4(ERCC2):c.676G>T (p.Ala226Ser) SNV
Germline		 Chr19:45364466 Conflicting classifications of pathogenicity Cerebrooculofacioskeletal syndrome 2
Condition: not provided
Ovarian cancer
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 rs_753696173

4 SubmittersRCV001775223RCV001861131RCV003154194RCV004040766
NM_000400.4(ERCC2):c.1684C>T (p.Gln562Ter) SNV
Germline		 Chr19:45353316 Pathogenic/Likely pathogenic Condition: not provided
Cerebrooculofacioskeletal syndrome 2		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2123229548

2 SubmittersRCV001783205RCV003470902
NM_000400.4(ERCC2):c.1996C>T (p.Arg666Trp) SNV
Germline		 Chr19:45352556 Pathogenic/Likely pathogenic Condition: not provided
Trichothiodystrophy 1, photosensitive
Cerebrooculofacioskeletal syndrome 2		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_752510317

4 SubmittersRCV001947789RCV003992580RCV003471050
NM_000400.4(ERCC2):c.1973G>A (p.Arg658His) SNV
Germline		 Chr19:45352579 Pathogenic/Likely pathogenic Condition: not provided
Cerebrooculofacioskeletal syndrome 2
ERCC2-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_762141272

3 SubmittersRCV002010563RCV003471249RCV004733445
NM_000400.4(ERCC2):c.442C>T (p.His148Tyr) SNV
Germline		 Chr19:45365077 Conflicting classifications of pathogenicity Condition: not provided
not specified
Xeroderma pigmentosum, group D
Cerebrooculofacioskeletal syndrome 2
Trichothiodystrophy 1, photosensitive		 Criteria Provided
Conflicting Classifications
 rs_201382232

4 SubmittersRCV001926551RCV002222744RCV004728951
NM_000400.4(ERCC2):c.1354C>T (p.Gln452Ter) SNV
Germline		 Chr19:45357497 Pathogenic Cerebrooculofacioskeletal syndrome 2
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_199643821

3 SubmittersRCV003471163RCV001942186
NM_000400.4(ERCC2):c.1308-2A>G SNV
Germline		 Chr19:45357545 Likely pathogenic Condition: not provided
Cerebrooculofacioskeletal syndrome 2		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_766369300

2 SubmittersRCV002021331RCV003471277
NM_000400.4(ERCC2):c.1758+1G>A SNV
Germline/somatic		 Chr19:45353241 Likely pathogenic Condition: not provided
Cerebrooculofacioskeletal syndrome 2		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_760834687

3 SubmittersRCV002226635RCV003471293
NM_000400.4(ERCC2):c.1378-1G>T SNV
Germline		 Chr19:45357372 Pathogenic/Likely pathogenic Condition: not provided
Cerebrooculofacioskeletal syndrome 2		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003064590RCV004572734
NM_000400.4(ERCC2):c.1017C>A (p.Tyr339Ter) SNV
Germline		 Chr19:45363844 Pathogenic/Likely pathogenic Condition: not provided
Cerebrooculofacioskeletal syndrome 2		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003084939RCV003465963
NM_000400.4(ERCC2):c.1480-1G>C SNV
Germline		 Chr19:45355729 Pathogenic/Likely pathogenic Condition: not provided
Cerebrooculofacioskeletal syndrome 2
Trichothiodystrophy		 Criteria Provided
Multiple Submitters
No Conflicts

4 SubmittersRCV003082744RCV003465960RCV004783010
NM_000400.4(ERCC2):c.1479+2T>C SNV
Germline		 Chr19:45357268 Likely pathogenic Condition: not provided
Cerebrooculofacioskeletal syndrome 2		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002595871RCV003465976
NM_000400.4(ERCC2):c.586C>T (p.Arg196Ter) SNV
Germline		 Chr19:45364846 Pathogenic Condition: not provided
Cerebrooculofacioskeletal syndrome 2		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002615810RCV004572795
NM_000400.4(ERCC2):c.2173G>A (p.Ala725Thr) SNV
Germline		 Chr19:45352226 Likely pathogenic Condition: not provided
Cerebrooculofacioskeletal syndrome 2		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003123215RCV003466016
NM_000400.4(ERCC2):c.262C>T (p.Arg88Ter) SNV
Germline		 Chr19:45368728 Pathogenic/Likely pathogenic Condition: not provided
Xeroderma pigmentosum
Cerebrooculofacioskeletal syndrome 2		 Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV003561256RCV003236423RCV003466048
NM_000400.4(ERCC2):c.1802G>T (p.Arg601Leu) SNV
Germline		 Chr19:45353112 Pathogenic/Likely pathogenic Xeroderma pigmentosum
Cerebrooculofacioskeletal syndrome 2
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV003317740RCV003459829RCV003561292
NM_000400.4(ERCC2):c.1627C>T (p.Gln543Ter) SNV
Germline/somatic		 Chr19:45354768 Pathogenic/Likely pathogenic Malignant tumor of urinary bladder
Condition: not provided
Cerebrooculofacioskeletal syndrome 2		 Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV003332952RCV003777406RCV004572936
NM_000400.4(ERCC2):c.1307+1G>A SNV
Unknown		 Chr19:45357629 Likely pathogenic Cerebrooculofacioskeletal syndrome 2 Criteria Provided
Single Submitter

1 SubmittersRCV003467911
NM_000400.4(ERCC2):c.478-2A>G SNV
Unknown		 Chr19:45364956 Likely pathogenic Cerebrooculofacioskeletal syndrome 2 Criteria Provided
Single Submitter

1 SubmittersRCV003460022
NM_000400.4(ERCC2):c.402C>A (p.Cys134Ter) SNV
Unknown		 Chr19:45365117 Likely pathogenic Cerebrooculofacioskeletal syndrome 2 Criteria Provided
Single Submitter

1 SubmittersRCV003460023
NM_000400.4(ERCC2):c.361-1G>A SNV
Unknown		 Chr19:45365159 Pathogenic Cerebrooculofacioskeletal syndrome 2 Criteria Provided
Single Submitter

1 SubmittersRCV003467918
NM_000400.4(ERCC2):c.2047-2A>C SNV
Unknown		 Chr19:45352354 Likely pathogenic Cerebrooculofacioskeletal syndrome 2 Criteria Provided
Single Submitter

1 SubmittersRCV003467919
NM_000400.4(ERCC2):c.1544-1G>T SNV
Germline		 Chr19:45354852 Pathogenic/Likely pathogenic Cerebrooculofacioskeletal syndrome 2
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003467920RCV004810007
NM_000400.4(ERCC2):c.1663C>T (p.Gln555Ter) SNV
Germline		 Chr19:45354732 Pathogenic/Likely pathogenic Cerebrooculofacioskeletal syndrome 2
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003467921RCV003669427
NM_000400.4(ERCC2):c.559C>T (p.Gln187Ter) SNV
Unknown		 Chr19:45364873 Likely pathogenic Cerebrooculofacioskeletal syndrome 2 Criteria Provided
Single Submitter

1 SubmittersRCV003467922
NM_000400.4(ERCC2):c.1832-1G>T SNV
Germline		 Chr19:45352817 Likely pathogenic Cerebrooculofacioskeletal syndrome 2
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003467924RCV003565672
NM_000400.4(ERCC2):c.2023G>C (p.Gly675Arg) SNV
Germline		 Chr19:45352529 Likely pathogenic Cerebrooculofacioskeletal syndrome 2
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003467929RCV003553951
NM_000400.4(ERCC2):c.2191-2A>G SNV
Unknown		 Chr19:45351723 Likely pathogenic Cerebrooculofacioskeletal syndrome 2 Criteria Provided
Single Submitter

1 SubmittersRCV003467930
NM_000400.4(ERCC2):c.1759-2A>C SNV
Unknown		 Chr19:45353157 Likely pathogenic Cerebrooculofacioskeletal syndrome 2 Criteria Provided
Single Submitter

1 SubmittersRCV003467931
NM_000400.4(ERCC2):c.1752C>G (p.Tyr584Ter) SNV
Unknown		 Chr19:45353248 Likely pathogenic Cerebrooculofacioskeletal syndrome 2 Criteria Provided
Single Submitter

1 SubmittersRCV003467932
NM_000400.4(ERCC2):c.1230C>G (p.Tyr410Ter) SNV
Unknown		 Chr19:45361531 Likely pathogenic Cerebrooculofacioskeletal syndrome 2 Criteria Provided
Single Submitter

1 SubmittersRCV003467933
NM_000400.4(ERCC2):c.1655G>A (p.Trp552Ter) SNV
Unknown		 Chr19:45354740 Likely pathogenic Cerebrooculofacioskeletal syndrome 2 Criteria Provided
Single Submitter

1 SubmittersRCV003467934
NM_000400.4(ERCC2):c.633C>G (p.Tyr211Ter) SNV
Unknown		 Chr19:45364509 Likely pathogenic Cerebrooculofacioskeletal syndrome 2 Criteria Provided
Single Submitter

1 SubmittersRCV003467935
NM_000400.4(ERCC2):c.815+1G>A SNV
Germline		 Chr19:45364234 Likely pathogenic Cerebrooculofacioskeletal syndrome 2
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003467939RCV003779013
NM_000400.4(ERCC2):c.79G>T (p.Glu27Ter) SNV
Unknown		 Chr19:45370159 Likely pathogenic Cerebrooculofacioskeletal syndrome 2 Criteria Provided
Single Submitter

1 SubmittersRCV003460028
NM_000400.4(ERCC2):c.2087G>A (p.Trp696Ter) SNV
Unknown		 Chr19:45352312 Likely pathogenic Cerebrooculofacioskeletal syndrome 2 Criteria Provided
Single Submitter

1 SubmittersRCV003467940
NM_000400.4(ERCC2):c.2190+1G>T SNV
Germline		 Chr19:45352208 Pathogenic/Likely pathogenic Cerebrooculofacioskeletal syndrome 2
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003475596RCV003720916
NM_000400.4(ERCC2):c.778C>T (p.Gln260Ter) SNV
Germline		 Chr19:45364272 Pathogenic/Likely pathogenic Condition: not provided
Cerebrooculofacioskeletal syndrome 2		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003830698RCV004573351
NM_000400.4(ERCC2):c.1238-1G>C SNV
Germline		 Chr19:45357700 Likely pathogenic Condition: not provided
Cerebrooculofacioskeletal syndrome 2		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003836333RCV004573352
NM_000400.4(ERCC2):c.1666-1G>A SNV
Germline		 Chr19:45353335 Pathogenic/Likely pathogenic Condition: not provided
Cerebrooculofacioskeletal syndrome 2		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003882572RCV004573379
NM_000400.4(ERCC2):c.570C>A (p.Cys190Ter) SNV
Unknown		 Chr19:45364862 Likely pathogenic Cerebrooculofacioskeletal syndrome 2 Criteria Provided
Single Submitter

1 SubmittersRCV004576377
NM_000400.4(ERCC2):c.1912G>T (p.Glu638Ter) SNV
Unknown		 Chr19:45352640 Likely pathogenic Cerebrooculofacioskeletal syndrome 2 Criteria Provided
Single Submitter

1 SubmittersRCV004576378
NM_000400.4(ERCC2):c.1480-2A>G SNV
Unknown		 Chr19:45355730 Likely pathogenic Cerebrooculofacioskeletal syndrome 2 Criteria Provided
Single Submitter

1 SubmittersRCV004576380
NM_000400.4(ERCC2):c.1902+2T>C SNV
Unknown		 Chr19:45352744 Likely pathogenic Cerebrooculofacioskeletal syndrome 2 Criteria Provided
Single Submitter

1 SubmittersRCV004576387
NM_000400.4(ERCC2):c.1832-2A>C SNV
Unknown		 Chr19:45352818 Likely pathogenic Cerebrooculofacioskeletal syndrome 2 Criteria Provided
Single Submitter

1 SubmittersRCV004576388
NM_000400.4(ERCC2):c.256G>T (p.Glu86Ter) SNV
Unknown		 Chr19:45368734 Likely pathogenic Cerebrooculofacioskeletal syndrome 2 Criteria Provided
Single Submitter

1 SubmittersRCV004576389
NM_000400.4(ERCC2):c.1378-2A>C SNV
Unknown		 Chr19:45357373 Likely pathogenic Cerebrooculofacioskeletal syndrome 2 Criteria Provided
Single Submitter

1 SubmittersRCV004576391
NM_000400.4(ERCC2):c.1532G>A (p.Arg511Gln) SNV
Germline		 Chr19:45355676 Pathogenic/Likely pathogenic Cerebrooculofacioskeletal syndrome 2
Xeroderma pigmentosum		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004576392RCV004587649