Total 40 pathogenic variants reported for Brittle cornea syndrome 2 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_018699.4(PRDM5):c.1768C>T (p.Arg590Ter) SNV
Germline		 Chr4:120695236 Pathogenic Brittle cornea syndrome 2
Condition: not provided		 Criteria Provided
Single Submitter
 CA129678 rs_387907110

2 SubmittersRCV000024107RCV001171739
NM_018699.4(PRDM5):c.93+1G>A SNV
Germline		 Chr4:120922515 Pathogenic Brittle cornea syndrome 2 No Assertion Criteria Provided
 CA358209811 rs_1267369024

1 SubmittersRCV000024108
NM_018699.4(PRDM5):c.320A>G (p.Tyr107Cys) SNV
Germline		 Chr4:120821326 Likely pathogenic Brittle cornea syndrome 2 Criteria Provided
Single Submitter
 CA129680 rs_387907111

2 SubmittersRCV000024109
NM_018699.4(PRDM5):c.93+2T>C SNV
Germline		 Chr4:120922514 Pathogenic Brittle cornea syndrome 2 Criteria Provided
Single Submitter
 CA358209808 rs_1579259095

2 SubmittersRCV000024111
NM_018699.4(PRDM5):c.106G>A (p.Gly36Arg) SNV
Germline		 Chr4:120907545 Conflicting classifications of pathogenicity Condition: not provided
Brittle cornea syndrome 2
Ehlers-Danlos syndrome		 Criteria Provided
Conflicting Classifications
 CA241748 rs_374583073

4 SubmittersRCV000175905RCV001260234RCV002277367
NM_018699.4(PRDM5):c.1283-5C>T SNV
Germline		 Chr4:120781308 Conflicting classifications of pathogenicity not specified
Brittle cornea syndrome 2
Condition: not provided
Ehlers-Danlos syndrome
Cardiovascular phenotype		 Criteria Provided
Conflicting Classifications
 CA3061080 rs_185134294

11 SubmittersRCV000442095RCV000407888RCV000726848RCV002278567RCV002379238
NM_018699.4(PRDM5):c.946-9C>T SNV
Germline		 Chr4:120799754 Conflicting classifications of pathogenicity Brittle cornea syndrome 2
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10617870 rs_886059042

2 SubmittersRCV000362585RCV003660788
NM_018699.4(PRDM5):c.1623+8T>C SNV
Germline		 Chr4:120754545 Conflicting classifications of pathogenicity Condition: not provided
Brittle cornea syndrome 2		 Criteria Provided
Conflicting Classifications
 CA3061002 rs_201965676

2 SubmittersRCV000922730RCV000400599
NM_018699.4(PRDM5):c.1189-14T>C SNV
Germline		 Chr4:120785105 Conflicting classifications of pathogenicity Brittle cornea syndrome 2
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3061120 rs_375296023

2 SubmittersRCV000370803RCV002523462
NM_018699.4(PRDM5):c.670A>T (p.Lys224Ter) SNV
Germline		 Chr4:120816905 Conflicting classifications of pathogenicity Condition: not provided
Brittle cornea syndrome 2
PRDM5-related disorder
Cardiovascular phenotype		 Criteria Provided
Conflicting Classifications
 CA16618029 rs_1064794819

7 SubmittersRCV000482774RCV000778717RCV003972812RCV005462989
NM_018699.4(PRDM5):c.248G>A (p.Arg83His) SNV
Germline		 Chr4:120853470 Conflicting classifications of pathogenicity Condition: not provided
Cardiovascular phenotype
Brittle cornea syndrome 2
not specified		 Criteria Provided
Conflicting Classifications
 CA3061447 rs_201945549

7 SubmittersRCV000523313RCV002431481RCV002490906RCV006452707
NM_018699.4(PRDM5):c.1031-15T>C SNV
Germline		 Chr4:120798439 Conflicting classifications of pathogenicity not specified
Brittle cornea syndrome 2
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3061170 rs_201474353

4 SubmittersRCV000609171RCV001144609RCV002064066
NM_018699.4(PRDM5):c.839A>G (p.Lys280Arg) SNV
Germline		 Chr4:120816479 Conflicting classifications of pathogenicity Condition: not provided
Ehlers-Danlos syndrome
Cardiovascular phenotype
Brittle cornea syndrome 2
not specified		 Criteria Provided
Conflicting Classifications
 CA3061275 rs_183142477

6 SubmittersRCV000998286RCV002279693RCV002434385RCV003132134RCV005432522
NM_018699.4(PRDM5):c.1538-5T>G SNV
Germline		 Chr4:120754643 Conflicting classifications of pathogenicity Brittle cornea syndrome 2
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1139658621 rs_1744464153

2 SubmittersRCV001149195RCV003769714
NM_018699.4(PRDM5):c.650+7A>G SNV
Germline		 Chr4:120818346 Conflicting classifications of pathogenicity Brittle cornea syndrome 2
Condition: not provided
PRDM5-related disorder		 Criteria Provided
Conflicting Classifications
 CA3061345 rs_751182540

4 SubmittersRCV001146447RCV002070775RCV003973105
NM_018699.4(PRDM5):c.247C>T (p.Arg83Cys) SNV
Germline		 Chr4:120853471 Conflicting classifications of pathogenicity Brittle cornea syndrome 2
Cardiovascular phenotype
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3061448 rs_761027478

5 SubmittersRCV001260237RCV003166589RCV004699242
NM_018699.4(PRDM5):c.17T>G (p.Val6Gly) SNV
Germline		 Chr4:120922592 Likely pathogenic Brittle cornea syndrome 2 Criteria Provided
Single Submitter
 CA358209964 rs_1725107158

1 SubmittersRCV001260235
NM_018699.4(PRDM5):c.740C>T (p.Ser247Leu) SNV
Germline		 Chr4:120816835 Conflicting classifications of pathogenicity Condition: not provided
Brittle cornea syndrome 2
Cardiovascular phenotype
not specified		 Criteria Provided
Conflicting Classifications
 CA3061311 rs_187637689

6 SubmittersRCV001872249RCV002482495RCV004988808RCV005419233
NM_018699.4(PRDM5):c.1650C>A (p.Cys550Ter) SNV
Germline		 Chr4:120710387 Likely pathogenic Brittle cornea syndrome 2 Criteria Provided
Single Submitter
 CA3060977 rs_755802156

1 SubmittersRCV002223029
NM_018699.4(PRDM5):c.475+2T>C SNV
Germline		 Chr4:120821169 Likely pathogenic Brittle cornea syndrome 2 Criteria Provided
Single Submitter
 CA358208504 rs_2478057377

1 SubmittersRCV002282913
NM_018699.4(PRDM5):c.694C>T (p.Arg232Ter) SNV
Germline		 Chr4:120816881 Pathogenic/Likely pathogenic Condition: not provided
Brittle cornea syndrome 2		 Criteria Provided
Multiple Submitters
No Conflicts
 CA358207762 rs_1455476600

3 SubmittersRCV002937976RCV005028027
NM_018699.4(PRDM5):c.658C>T (p.Gln220Ter) SNV
Germline		 Chr4:120816917 Likely pathogenic Brittle cornea syndrome 2 Criteria Provided
Single Submitter
 CA358207840 rs_2477956523

1 SubmittersRCV003226833
NM_018699.4(PRDM5):c.1036C>T (p.Arg346Ter) SNV
Germline		 Chr4:120798419 Pathogenic Brittle cornea syndrome 2
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA3061165 rs_755676779

2 SubmittersRCV003389136RCV003778169
NM_018699.4(PRDM5):c.1030G>T (p.Glu344Ter) SNV
Germline		 Chr4:120799661 Pathogenic/Likely pathogenic Condition: not provided
Brittle cornea syndrome 2		 Criteria Provided
Multiple Submitters
No Conflicts
 CA358210384 rs_2477547119

2 SubmittersRCV003665536RCV005030144
NM_018699.4(PRDM5):c.865+1G>A SNV
Germline		 Chr4:120816452 Likely pathogenic Condition: not provided
Brittle cornea syndrome 2		 Criteria Provided
Multiple Submitters
No Conflicts
 CA358207364 rs_2477938090

3 SubmittersRCV003676395RCV005030162
NM_018699.4(PRDM5):c.93+7G>A SNV
Germline		 Chr4:120922509 Conflicting classifications of pathogenicity Condition: not provided
Brittle cornea syndrome 2
not specified		 Criteria Provided
Conflicting Classifications
 CA3061525 rs_777981327

3 SubmittersRCV003724837RCV005030225RCV006455729
NM_018699.4(PRDM5):c.307G>T (p.Glu103Ter) SNV
Germline		 Chr4:120821339 Pathogenic/Likely pathogenic Condition: not provided
Brittle cornea syndrome 2		 Criteria Provided
Multiple Submitters
No Conflicts
 CA358209204 rs_2478065345

2 SubmittersRCV003835289RCV005038551
NM_018699.4(PRDM5):c.337A>G (p.Ile113Val) SNV
Germline		 Chr4:120821309 Conflicting classifications of pathogenicity Brittle cornea syndrome 2
Cardiovascular phenotype
Condition: not provided		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV005038862RCV004989413RCV005107746
NM_018699.4(PRDM5):c.1282+1G>T SNV
Germline		 Chr4:120784997 Likely pathogenic Brittle cornea syndrome 2 Criteria Provided
Single Submitter

1 SubmittersRCV005024961
NM_018699.4(PRDM5):c.1258C>T (p.Gln420Ter) SNV
Germline		 Chr4:120785022 Pathogenic/Likely pathogenic Brittle cornea syndrome 2
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV005037284RCV006276618
NM_018699.4(PRDM5):c.1623+1G>A SNV
Germline		 Chr4:120754552 Likely pathogenic Brittle cornea syndrome 2
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV006269092RCV006569372