Total 232 pathogenic variants reported for Brittle cornea syndrome 1 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_001367624.2(ZNF469):c.10100G>A (p.Cys3367Tyr) SNV
Germline
Chr16:88437570 Pathogenic Brittle cornea syndrome 1 No Assertion Criteria Provided
CA129556 rs_387907062

1 SubmittersRCV000023931

NM_001367624.2(ZNF469):c.4258G>T (p.Glu1420Ter) SNV
Germline
Chr16:88431728 Pathogenic Brittle cornea syndrome 1 No Assertion Criteria Provided
CA129558 rs_387907063

1 SubmittersRCV000023932

NM_001367624.2(ZNF469):c.1020C>T (p.Gly340=) SNV
Germline
Chr16:88428490 Conflicting classifications of pathogenicity Keratoconus 1
Condition: not provided
Brittle cornea syndrome 1
Ehlers-Danlos syndrome
Cardiovascular phenotype
ZNF469-related disorder
not specified
Criteria Provided
Conflicting Classifications
CA151269 rs_273585633

9 SubmittersRCV000114771RCV000513443RCV000393765RCV002277152RCV002381414RCV003945043RCV005406825

NM_001367624.2(ZNF469):c.11185G>A (p.Gly3729Ser) SNV
Germline
Chr16:88438655 Conflicting classifications of pathogenicity Keratoconus 1
Condition: not provided
Cardiovascular phenotype
Brittle cornea syndrome 1
ZNF469-related disorder
Criteria Provided
Conflicting Classifications
CA151275 rs_273585629

7 SubmittersRCV000114774RCV001854536RCV002433602RCV005394378RCV004751264

NM_001367624.2(ZNF469):c.2699C>T (p.Pro900Leu) SNV
Germline
Chr16:88430169 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Keratoconus 1
Condition: not provided
Cardiovascular phenotype
ZNF469-related disorder
not specified
Criteria Provided
Conflicting Classifications
CA151283 rs_273585618

9 SubmittersRCV000371799RCV000114778RCV000490000RCV002426655RCV003952544RCV005055580

NM_001367624.2(ZNF469):c.6179C>A (p.Ser2060Tyr) SNV
Germline
Chr16:88433649 Conflicting classifications of pathogenicity Keratoconus 1
Keratoconus
Brittle cornea syndrome 1
Condition: not provided
Cardiovascular phenotype
ZNF469-related disorder
not specified
Criteria Provided
Conflicting Classifications
CA151295 rs_273585623

11 SubmittersRCV000114784RCV000991180RCV002243759RCV001588923RCV002354289RCV003935092RCV005406826

NM_001367624.2(ZNF469):c.8996G>T (p.Gly2999Val) SNV
Germline
Chr16:88436466 Conflicting classifications of pathogenicity Keratoconus 1
Brittle cornea syndrome 1
Cardiovascular phenotype
not specified
Condition: not provided
Criteria Provided
Conflicting Classifications
CA151303 rs_273585625

6 SubmittersRCV000114788RCV001836730RCV002371938RCV003317091RCV004791268

NM_001367624.2(ZNF469):c.9919A>G (p.Thr3307Ala) SNV
Germline
Chr16:88437389 Conflicting classifications of pathogenicity Keratoconus 1
Condition: not provided
Brittle cornea syndrome 1
not specified
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA151309 rs_273585627

7 SubmittersRCV000114791RCV000520139RCV002483182RCV005237544RCV002381415

NM_001367624.2(ZNF469):c.5144G>A (p.Arg1715Lys) SNV
Germline
Chr16:88432614 Conflicting classifications of pathogenicity Keratoconus 1
Condition: not provided
Ehlers-Danlos syndrome
Cardiovascular phenotype
Brittle cornea syndrome 1
Criteria Provided
Conflicting Classifications
CA151325 rs_281865149

6 SubmittersRCV000114799RCV001657701RCV002277155RCV002336248RCV002477272

NM_001367624.2(ZNF469):c.7831G>A (p.Glu2611Lys) SNV
Germline
Chr16:88435301 Conflicting classifications of pathogenicity Keratoconus 1
Condition: not provided
Cardiovascular phenotype
Brittle cornea syndrome 1
Criteria Provided
Conflicting Classifications
CA151329 rs_281865151

6 SubmittersRCV000114801RCV000487653RCV005520242RCV005394379

NM_001367624.2(ZNF469):c.1827G>A (p.Ser609=) SNV
Germline
Chr16:88429297 Conflicting classifications of pathogenicity not specified
Brittle cornea syndrome 1
Condition: not provided
Ehlers-Danlos syndrome
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA200374 rs_148616993

6 SubmittersRCV000173217RCV000389080RCV002054041RCV002277326RCV002408750

NM_001367624.2(ZNF469):c.2717C>T (p.Pro906Leu) SNV
Germline
Chr16:88430187 Conflicting classifications of pathogenicity not specified
Condition: not provided
Brittle cornea syndrome 1
Cardiovascular phenotype
Ehlers-Danlos syndrome
Criteria Provided
Conflicting Classifications
CA238680 rs_77951481

10 SubmittersRCV000173218RCV000512833RCV000281876RCV002426825RCV002277327

NM_001367624.2(ZNF469):c.457C>G (p.Pro153Ala) SNV
Germline
Chr16:88427927 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Condition: not provided
Cardiovascular phenotype
Ehlers-Danlos syndrome
Criteria Provided
Conflicting Classifications
CA238682 rs_532620482

7 SubmittersRCV000625422RCV000724021RCV002336417RCV002277328

NM_001367624.2(ZNF469):c.9268C>T (p.Arg3090Ter) SNV
Germline
Chr16:88436738 Pathogenic/Likely pathogenic Condition: not provided
Brittle cornea syndrome 1
Criteria Provided
Multiple Submitters
No Conflicts
CA201574 rs_764139968

4 SubmittersRCV000175661RCV002228785

NM_001367624.2(ZNF469):c.10326G>C (p.Arg3442Ser) SNV
Germline
Chr16:88437796 Conflicting classifications of pathogenicity not specified
Brittle cornea syndrome 1
Condition: not provided
Cardiovascular phenotype
Ehlers-Danlos syndrome
Criteria Provided
Conflicting Classifications
CA201578 rs_56236932

7 SubmittersRCV000175664RCV000355749RCV002056941RCV002381571RCV002277361

NM_001367624.2(ZNF469):c.4952A>G (p.Gln1651Arg) SNV
Germline
Chr16:88432422 Conflicting classifications of pathogenicity Condition: not provided
Brittle cornea syndrome 1
Cardiovascular phenotype
Ehlers-Danlos syndrome
Criteria Provided
Conflicting Classifications
CA241396 rs_773925755

7 SubmittersRCV000175665RCV000764088RCV002336426RCV002277362

NM_001367624.2(ZNF469):c.7267C>A (p.Pro2423Thr) SNV
Germline
Chr16:88434737 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Condition: not provided
Ehlers-Danlos syndrome
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA8225228 rs_199727372

9 SubmittersRCV000298464RCV000724940RCV002278264RCV002374452

NM_001367624.2(ZNF469):c.4472C>T (p.Thr1491Met) SNV
Germline
Chr16:88431942 Conflicting classifications of pathogenicity not specified
Brittle cornea syndrome 1
Condition: not provided
Ehlers-Danlos syndrome
Cardiovascular phenotype
ZNF469-related disorder
Criteria Provided
Conflicting Classifications
CA8224963 rs_375045076

13 SubmittersRCV000285836RCV000335927RCV000487900RCV002278267RCV002328759RCV003939954

NM_001367624.2(ZNF469):c.2270T>G (p.Leu757Arg) SNV
Germline
Chr16:88429740 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Condition: not provided
Ehlers-Danlos syndrome
Cardiovascular phenotype
ZNF469-related disorder
not specified
Criteria Provided
Conflicting Classifications
CA8224757 rs_753664726

12 SubmittersRCV000272637RCV000357499RCV002278273RCV002446519RCV003939971RCV005407012

NM_001367624.2(ZNF469):c.5340C>G (p.Pro1780=) SNV
Germline
Chr16:88432810 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Condition: not provided
Cardiovascular phenotype
Ehlers-Danlos syndrome
not specified
Criteria Provided
Conflicting Classifications
CA8225068 rs_184374078

10 SubmittersRCV000261382RCV000725180RCV002338829RCV002278274RCV005407013

NM_001367624.2(ZNF469):c.4829G>A (p.Arg1610His) SNV
Germline
Chr16:88432299 Conflicting classifications of pathogenicity Condition: not provided
Brittle cornea syndrome 1
Cardiovascular phenotype
ZNF469-related disorder
Criteria Provided
Conflicting Classifications
CA8225010 rs_567038987

5 SubmittersRCV000268027RCV000764087RCV002338843RCV004751430

NM_001367624.2(ZNF469):c.2297G>A (p.Arg766Gln) SNV
Germline
Chr16:88429767 Conflicting classifications of pathogenicity not specified
Condition: not provided
Cardiovascular phenotype
Ehlers-Danlos syndrome
ZNF469-related disorder
Brittle cornea syndrome 1
Criteria Provided
Conflicting Classifications
CA8224758 rs_144492145

11 SubmittersRCV000325707RCV000725898RCV002450821RCV002278300RCV003909987RCV005396891

NM_001367624.2(ZNF469):c.10700G>A (p.Gly3567Glu) SNV
Germline
Chr16:88438170 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Condition: not provided
Ehlers-Danlos syndrome
Cardiovascular phenotype
not specified
ZNF469-related disorder
Criteria Provided
Conflicting Classifications
CA8225541 rs_199610834

10 SubmittersRCV000381105RCV000585441RCV002278326RCV002402006RCV003226277RCV003920176

NM_018699.4(PRDM5):c.342A>C (p.Glu114Asp) SNV
Germline
Chr4:120821304 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Condition: not provided
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA3061413 rs_146228268

4 SubmittersRCV000280666RCV000831805RCV002450919

NM_018699.4(PRDM5):c.*120T>C SNV
Germline
Chr4:120694991 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10617862 rs_77157999

2 SubmittersRCV000340282RCV001564858

NM_018699.4(PRDM5):c.237C>T (p.Ser79=) SNV
Germline
Chr4:120853481 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Condition: not provided
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA3061451 rs_374500219

5 SubmittersRCV000349563RCV001574811RCV002450920

NM_018699.4(PRDM5):c.1722G>A (p.Gln574=) SNV
Germline
Chr4:120710315 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Condition: not provided
not specified
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA3060966 rs_147796327

5 SubmittersRCV000286582RCV000892558RCV000601791RCV003298407

NM_018699.4(PRDM5):c.1633T>C (p.Tyr545His) SNV
Germline
Chr4:120710404 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Condition: not provided
Ehlers-Danlos syndrome
PRDM5-related disorder
Cardiovascular phenotype
not specified
Criteria Provided
Conflicting Classifications
CA3060982 rs_142515463

8 SubmittersRCV000341675RCV000584978RCV002278566RCV003950225RCV002402070RCV005437992

NM_018699.4(PRDM5):c.544C>T (p.Leu182Phe) SNV
Germline
Chr4:120818459 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Condition: not provided
Connective tissue disorder
Cardiovascular phenotype
PRDM5-related disorder
Criteria Provided
Conflicting Classifications
CA3061361 rs_199602365

6 SubmittersRCV000334286RCV001548254RCV002278571RCV002348102RCV004757216

NM_018699.4(PRDM5):c.236C>G (p.Ser79Cys) SNV
Germline
Chr4:120853482 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Cardiovascular phenotype
Condition: not provided
Criteria Provided
Conflicting Classifications
CA3061452 rs_201325904

3 SubmittersRCV000398886RCV002450921RCV002520200

NM_018699.4(PRDM5):c.128G>C (p.Arg43Thr) SNV
Germline
Chr4:120907523 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Ehlers-Danlos syndrome
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA3061494 rs_563401372

4 SubmittersRCV000315336RCV002278572RCV003736739RCV005407073

NM_018699.4(PRDM5):c.36G>T (p.Leu12=) SNV
Germline
Chr4:120922573 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Condition: not provided
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA3061541 rs_755929725

3 SubmittersRCV000399185RCV003766005RCV005462951

NM_001367624.2(ZNF469):c.402C>T (p.Asp134=) SNV
Germline
Chr16:88427872 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Condition: not provided
Ehlers-Danlos syndrome
Cardiovascular phenotype
ZNF469-related disorder
Criteria Provided
Conflicting Classifications
CA8224586 rs_569036398

7 SubmittersRCV000319425RCV001690064RCV002278430RCV002374540RCV003957653

NM_001367624.2(ZNF469):c.627G>T (p.Gly209=) SNV
Germline
Chr16:88428097 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Condition: not provided
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA8224604 rs_113227277

4 SubmittersRCV000322825RCV001718667RCV002365375

NM_001367624.2(ZNF469):c.951C>T (p.Ala317=) SNV
Germline
Chr16:88428421 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Condition: not provided
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA8224644 rs_561239255

4 SubmittersRCV000291021RCV002522893RCV002374542

NM_001367624.2(ZNF469):c.1584G>A (p.Pro528=) SNV
Germline
Chr16:88429054 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Condition: not provided
Ehlers-Danlos syndrome
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA8224689 rs_143852982

5 SubmittersRCV000358233RCV001697666RCV002278435RCV002402036

NM_001367624.2(ZNF469):c.1719C>T (p.His573=) SNV
Germline
Chr16:88429189 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Cardiovascular phenotype
Condition: not provided
Criteria Provided
Conflicting Classifications
CA8224699 rs_552893295

3 SubmittersRCV000288362RCV002402038RCV002056514

NM_001367624.2(ZNF469):c.2873T>C (p.Leu958Pro) SNV
Germline
Chr16:88430343 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Condition: not provided
Cardiovascular phenotype
not specified
Criteria Provided
Conflicting Classifications
CA10638589 rs_370402083

5 SubmittersRCV000342671RCV002522894RCV002436169RCV005407053

NM_001367624.2(ZNF469):c.2952C>T (p.Asp984=) SNV
Germline
Chr16:88430422 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10638590 rs_886052398

2 SubmittersRCV000367740RCV003556331

NM_001367624.2(ZNF469):c.3183C>T (p.Arg1061=) SNV
Germline
Chr16:88430653 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Cardiovascular phenotype
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA8224832 rs_756703220

4 SubmittersRCV000320091RCV002321995RCV004760480RCV005407054

NM_001367624.2(ZNF469):c.3506C>T (p.Pro1169Leu) SNV
Germline
Chr16:88430976 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Condition: not provided
Ehlers-Danlos syndrome
Cardiovascular phenotype
not specified
Criteria Provided
Conflicting Classifications
CA8224863 rs_769853271

6 SubmittersRCV000327077RCV001536923RCV002278451RCV002450882RCV005238898

NM_001367624.2(ZNF469):c.3931C>T (p.Pro1311Ser) SNV
Germline
Chr16:88431401 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Condition: not provided
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA10638599 rs_187453092

5 SubmittersRCV000352903RCV000487611RCV002365377

NM_001367624.2(ZNF469):c.3950A>G (p.Lys1317Arg) SNV
Germline
Chr16:88431420 Conflicting classifications of pathogenicity Condition: not provided
Brittle cornea syndrome 1
Ehlers-Danlos syndrome
Cardiovascular phenotype
not specified
ZNF469-related disorder
Criteria Provided
Conflicting Classifications
CA8224904 rs_772817384

8 SubmittersRCV000585365RCV000406466RCV002278454RCV002356433RCV005238899RCV003950091

NM_001367624.2(ZNF469):c.4227G>A (p.Pro1409=) SNV
Germline
Chr16:88431697 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Condition: not provided
Ehlers-Danlos syndrome
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA8224925 rs_371897217

5 SubmittersRCV000324218RCV001697756RCV002278455RCV002328836

NM_001367624.2(ZNF469):c.4376T>G (p.Leu1459Arg) SNV
Germline
Chr16:88431846 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Condition: not provided
Cardiovascular phenotype
ZNF469-related disorder
not specified
Criteria Provided
Conflicting Classifications
CA8224944 rs_559625962

7 SubmittersRCV000325404RCV001570952RCV002328838RCV003972371RCV005407055

NM_001367624.2(ZNF469):c.4456G>A (p.Asp1486Asn) SNV
Germline
Chr16:88431926 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Condition: not provided
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA8224962 rs_373777402

6 SubmittersRCV000295026RCV001577672RCV002328841

NM_001367624.2(ZNF469):c.7062G>A (p.Thr2354=) SNV
Germline
Chr16:88434532 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Condition: not provided
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA10638610 rs_866760637

3 SubmittersRCV000344001RCV002056528RCV003298379

NM_001367624.2(ZNF469):c.7116C>G (p.Thr2372=) SNV
Germline
Chr16:88434586 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Condition: not provided
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA8225215 rs_762487170

4 SubmittersRCV000349899RCV001569528RCV002374545

NM_001367624.2(ZNF469):c.7553C>A (p.Pro2518His) SNV
Germline
Chr16:88435023 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Condition: not provided
Ehlers-Danlos syndrome
Cardiovascular phenotype
ZNF469-related disorder
Criteria Provided
Conflicting Classifications
CA8225262 rs_201943633

8 SubmittersRCV000359081RCV000512905RCV002278467RCV002392875RCV003940261

NM_001367624.2(ZNF469):c.8503G>C (p.Glu2835Gln) SNV
Germline
Chr16:88435973 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Condition: not provided
Ehlers-Danlos syndrome
ZNF469-related disorder
Cardiovascular phenotype
not specified
Criteria Provided
Conflicting Classifications
CA8225342 rs_200153921

10 SubmittersRCV000304531RCV001712037RCV002278472RCV003972372RCV002411216RCV005238904

NM_001367624.2(ZNF469):c.9676C>A (p.His3226Asn) SNV
Germline
Chr16:88437146 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Condition: not provided
Cardiovascular phenotype
ZNF469-related disorder
Criteria Provided
Conflicting Classifications
CA10638622 rs_867530230

5 SubmittersRCV000308943RCV001837823RCV002379202RCV003957655

NM_001367624.2(ZNF469):c.9696G>A (p.Thr3232=) SNV
Germline
Chr16:88437166 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Condition: not provided
Ehlers-Danlos syndrome
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA8225446 rs_573582117

6 SubmittersRCV000365992RCV000512718RCV002278478RCV002379203

NM_001367624.2(ZNF469):c.10325G>T (p.Arg3442Met) SNV
Germline
Chr16:88437795 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
not specified
Condition: not provided
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA10638624 rs_199528724

4 SubmittersRCV000298532RCV000604161RCV001850713RCV002379205

NM_001367624.2(ZNF469):c.10328G>T (p.Gly3443Val) SNV
Germline
Chr16:88437798 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Condition: not provided
not specified
Ehlers-Danlos syndrome
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA8225499 rs_140056980

6 SubmittersRCV000263311RCV000996376RCV000602561RCV002278480RCV002379206

NM_001367624.2(ZNF469):c.11052G>A (p.Ser3684=) SNV
Germline
Chr16:88438522 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Cardiovascular phenotype
Condition: not provided
Criteria Provided
Conflicting Classifications
CA8225575 rs_780722176

3 SubmittersRCV000393704RCV002446581RCV003765864

NM_001367624.2(ZNF469):c.11203A>G (p.Ser3735Gly) SNV
Germline
Chr16:88438673 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Condition: not provided
Ehlers-Danlos syndrome
Cardiovascular phenotype
ZNF469-related disorder
Criteria Provided
Conflicting Classifications
CA8225591 rs_536054902

7 SubmittersRCV000393691RCV001515256RCV002278483RCV002429278RCV003910221

NM_001367624.2(ZNF469):c.11658G>C (p.Gln3886His) SNV
Germline
Chr16:88439128 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Condition: not provided
Ehlers-Danlos syndrome
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA8225634 rs_182269913

6 SubmittersRCV000268070RCV000996380RCV002278486RCV002356442

NM_001367624.2(ZNF469):c.*264A>G SNV
Germline
Chr16:88439596 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10638631 rs_193210256

2 SubmittersRCV000279078RCV001590953

NM_001367624.2(ZNF469):c.81G>A (p.Pro27=) SNV
Germline
Chr16:88427551 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Condition: not provided
ZNF469-related disorder
Cardiovascular phenotype
not specified
Criteria Provided
Conflicting Classifications
CA10644456 rs_534464702

7 SubmittersRCV000369675RCV001531241RCV003969908RCV002429271RCV005238892

NM_001367624.2(ZNF469):c.98C>T (p.Pro33Leu) SNV
Germline
Chr16:88427568 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Condition: not provided
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA8224569 rs_752770883

5 SubmittersRCV000403705RCV000761943RCV002379197

NM_001367624.2(ZNF469):c.139G>A (p.Gly47Ser) SNV
Germline
Chr16:88427609 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Condition: not provided
Cardiovascular phenotype
Ehlers-Danlos syndrome
ZNF469-related disorder
Criteria Provided
Conflicting Classifications
CA8224571 rs_138954293

6 SubmittersRCV000311608RCV000497526RCV002392870RCV002278429RCV003920363

NM_001367624.2(ZNF469):c.952G>A (p.Val318Met) SNV
Germline
Chr16:88428422 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Condition: not provided
Ehlers-Danlos syndrome
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA8224645 rs_139066376

5 SubmittersRCV000343682RCV000604405RCV002278433RCV002374543

NM_001367624.2(ZNF469):c.1875C>A (p.Leu625=) SNV
Germline
Chr16:88429345 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Cardiovascular phenotype
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10644462 rs_886052392

4 SubmittersRCV000292403RCV002411211RCV003765858

NM_001367624.2(ZNF469):c.1896G>A (p.Ser632=) SNV
Germline
Chr16:88429366 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Condition: not provided
Ehlers-Danlos syndrome
Cardiovascular phenotype
ZNF469-related disorder
Criteria Provided
Conflicting Classifications
CA8224723 rs_554795578

9 SubmittersRCV000373781RCV001580076RCV002278437RCV002411213RCV003920365

NM_001367624.2(ZNF469):c.2132C>G (p.Pro711Arg) SNV
Germline
Chr16:88429602 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Condition: not provided
Ehlers-Danlos syndrome
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA8224748 rs_571184307

6 SubmittersRCV000364914RCV001580482RCV002278440RCV002418178

NM_001367624.2(ZNF469):c.2652C>G (p.Pro884=) SNV
Germline
Chr16:88430122 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Condition: not provided
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA10644468 rs_767431034

3 SubmittersRCV000385961RCV003678990RCV005298480

NM_001367624.2(ZNF469):c.2810A>T (p.Asp937Val) SNV
Germline
Chr16:88430280 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA8224804 rs_550198026

2 SubmittersRCV000377433RCV003765860

NM_001367624.2(ZNF469):c.3472C>T (p.Pro1158Ser) SNV
Germline
Chr16:88430942 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Condition: not provided
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA8224857 rs_184894059

5 SubmittersRCV000380148RCV001697755RCV002450881

NM_001367624.2(ZNF469):c.3565C>A (p.Pro1189Thr) SNV
Germline
Chr16:88431035 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Condition: not provided
Cardiovascular phenotype
Ehlers-Danlos syndrome
not specified
Criteria Provided
Conflicting Classifications
CA8224869 rs_766878740

7 SubmittersRCV000346780RCV001531243RCV002450883RCV002278452RCV005431611

NM_001367624.2(ZNF469):c.5010C>A (p.Ala1670=) SNV
Germline
Chr16:88432480 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Condition: not provided
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA10644476 rs_766852564

3 SubmittersRCV000327483RCV002056523RCV002338911

NM_001367624.2(ZNF469):c.5162G>T (p.Cys1721Phe) SNV
Germline
Chr16:88432632 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Condition: not provided
Ehlers-Danlos syndrome
Cardiovascular phenotype
not specified
Criteria Provided
Conflicting Classifications
CA8225051 rs_568197988

8 SubmittersRCV000388630RCV000416177RCV002278459RCV002338912RCV005407056

NM_001367624.2(ZNF469):c.5548C>A (p.Pro1850Thr) SNV
Germline
Chr16:88433018 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Condition: not provided
Cardiovascular phenotype
Ehlers-Danlos syndrome
Criteria Provided
Conflicting Classifications
CA8225087 rs_199932922

8 SubmittersRCV000375933RCV000513538RCV002348062RCV002278460

NM_001367624.2(ZNF469):c.6259G>A (p.Ala2087Thr) SNV
Germline
Chr16:88433729 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Condition: not provided
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA8225134 rs_144986357

4 SubmittersRCV000367707RCV001697744RCV002356439

NM_001367624.2(ZNF469):c.6388C>G (p.Leu2130Val) SNV
Germline
Chr16:88433858 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Cardiovascular phenotype
Condition: not provided
Criteria Provided
Conflicting Classifications
CA8225146 rs_562559927

4 SubmittersRCV000275844RCV002356440RCV001718671

NM_001367624.2(ZNF469):c.6480C>T (p.Pro2160=) SNV
Germline
Chr16:88433950 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Cardiovascular phenotype
Condition: not provided
Criteria Provided
Conflicting Classifications
CA8225161 rs_370190101

3 SubmittersRCV000262769RCV002365379RCV003765861

NM_001367624.2(ZNF469):c.7079C>T (p.Pro2360Leu) SNV
Germline
Chr16:88434549 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
not specified
Condition: not provided
Ehlers-Danlos syndrome
Cardiovascular phenotype
ZNF469-related disorder
Criteria Provided
Conflicting Classifications
CA8225212 rs_76389306

9 SubmittersRCV000384522RCV000428390RCV001531246RCV002278466RCV002365384RCV003922358

NM_001367624.2(ZNF469):c.7265C>A (p.Ser2422Tyr) SNV
Germline
Chr16:88434735 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Condition: not provided
Cardiovascular phenotype
not specified
Criteria Provided
Conflicting Classifications
CA8225226 rs_201540905

6 SubmittersRCV000393482RCV001572363RCV002374546RCV005238900

NM_001367624.2(ZNF469):c.7514C>T (p.Pro2505Leu) SNV
Germline
Chr16:88434984 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Condition: not provided
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA8225256 rs_552311966

4 SubmittersRCV000301825RCV001590952RCV002379201

NM_001367624.2(ZNF469):c.8067G>A (p.Gly2689=) SNV
Germline
Chr16:88435537 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Condition: not provided
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA8225305 rs_116213189

4 SubmittersRCV000384416RCV001697819RCV002418179

NM_001367624.2(ZNF469):c.8080C>T (p.Arg2694Cys) SNV
Germline
Chr16:88435550 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Condition: not provided
Cardiovascular phenotype
not specified
Criteria Provided
Conflicting Classifications
CA8225307 rs_540443650

6 SubmittersRCV000292404RCV001311084RCV004021682RCV005055879

NM_001367624.2(ZNF469):c.9321G>A (p.Pro3107=) SNV
Germline
Chr16:88436791 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Condition: not provided
Ehlers-Danlos syndrome
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA8225424 rs_543846859

5 SubmittersRCV000286492RCV001718672RCV002278476RCV002374549

NM_001367624.2(ZNF469):c.11107G>A (p.Val3703Met) SNV
Germline
Chr16:88438577 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Condition: not provided
Ehlers-Danlos syndrome
Cardiovascular phenotype
not specified
Criteria Provided
Conflicting Classifications
CA8225583 rs_151127652

7 SubmittersRCV000314671RCV000584866RCV002278482RCV002429277RCV005437990

NM_001367624.2(ZNF469):c.11425G>A (p.Glu3809Lys) SNV
Germline
Chr16:88438895 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Condition: not provided
Cardiovascular phenotype
Ehlers-Danlos syndrome
not specified
Brittle cornea syndrome
ZNF469-related disorder
Criteria Provided
Conflicting Classifications
CA8225610 rs_201834513

11 SubmittersRCV000357348RCV000996378RCV002323527RCV002278485RCV003226279RCV002508931RCV003969910

NM_001367624.2(ZNF469):c.376A>G (p.Ser126Gly) SNV
Germline
Chr16:88427846 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA10648252 rs_886052389

2 SubmittersRCV000261936RCV002348059

NM_001367624.2(ZNF469):c.609C>A (p.Pro203=) SNV
Germline
Chr16:88428079 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Ehlers-Danlos syndrome
Condition: not provided
Cardiovascular phenotype
ZNF469-related disorder
not specified
Criteria Provided
Conflicting Classifications
CA10648254 rs_886052390

7 SubmittersRCV000260593RCV002278431RCV001574733RCV002356431RCV003920364RCV005238893

NM_001367624.2(ZNF469):c.725G>T (p.Ser242Ile) SNV
Germline
Chr16:88428195 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Condition: not provided
Ehlers-Danlos syndrome
Cardiovascular phenotype
ZNF469-related disorder
Criteria Provided
Conflicting Classifications
CA8224616 rs_536586591

7 SubmittersRCV000282947RCV000761944RCV002278432RCV002379198RCV004751459

NM_001367624.2(ZNF469):c.942G>A (p.Pro314=) SNV
Germline
Chr16:88428412 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Condition: not provided
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA8224640 rs_767588443

3 SubmittersRCV000383007RCV002056511RCV002446572

NM_001367624.2(ZNF469):c.1615A>T (p.Ser539Cys) SNV
Germline
Chr16:88429085 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Condition: not provided
Ehlers-Danlos syndrome
Cardiovascular phenotype
ZNF469-related disorder
not specified
Criteria Provided
Conflicting Classifications
CA8224691 rs_189476639

12 SubmittersRCV000266161RCV000487545RCV002278436RCV002392874RCV003972370RCV005238894

NM_001367624.2(ZNF469):c.2085C>T (p.Pro695=) SNV
Germline
Chr16:88429555 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
not specified
Condition: not provided
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA8224742 rs_74547407

6 SubmittersRCV000403019RCV000418434RCV001712036RCV002418176

NM_001367624.2(ZNF469):c.3321G>A (p.Arg1107=) SNV
Germline
Chr16:88430791 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Condition: not provided
Ehlers-Danlos syndrome
Cardiovascular phenotype
not specified
Criteria Provided
Conflicting Classifications
CA8224843 rs_763826959

9 SubmittersRCV000266288RCV000603861RCV002278450RCV002446573RCV005238897

NM_001367624.2(ZNF469):c.3326C>T (p.Pro1109Leu) SNV
Germline
Chr16:88430796 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Cardiovascular phenotype
Condition: not provided
Criteria Provided
Conflicting Classifications
CA8224844 rs_562264117

3 SubmittersRCV000320869RCV002323524RCV001850708

NM_001367624.2(ZNF469):c.4778C>T (p.Ser1593Leu) SNV
Germline
Chr16:88432248 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Condition: not provided
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA8225005 rs_768864900

4 SubmittersRCV000407223RCV000488254RCV004021680

NM_001367624.2(ZNF469):c.4909C>T (p.Arg1637Trp) SNV
Germline
Chr16:88432379 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Condition: not provided
ZNF469-related disorder
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA8225024 rs_575820215

6 SubmittersRCV000362377RCV001171782RCV003910219RCV002338909

NM_001367624.2(ZNF469):c.5577G>A (p.Pro1859=) SNV
Germline
Chr16:88433047 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Condition: not provided
Ehlers-Danlos syndrome
Cardiovascular phenotype
not specified
Criteria Provided
Conflicting Classifications
CA8225092 rs_764487066

6 SubmittersRCV000281453RCV001718669RCV002278461RCV002348063RCV005431612

NM_001367624.2(ZNF469):c.5707C>T (p.Arg1903Cys) SNV
Germline
Chr16:88433177 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Condition: not provided
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA8225101 rs_757657013

4 SubmittersRCV000287391RCV001560497RCV002348066

NM_001367624.2(ZNF469):c.6665T>C (p.Leu2222Pro) SNV
Germline
Chr16:88434135 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA10648286 rs_78213929

2 SubmittersRCV000377440RCV004601157

NM_001367624.2(ZNF469):c.6846C>T (p.Ala2282=) SNV
Germline
Chr16:88434316 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Cardiovascular phenotype
Condition: not provided
Criteria Provided
Conflicting Classifications
CA8225189 rs_748097865

3 SubmittersRCV000378729RCV002365383RCV003765862

NM_001367624.2(ZNF469):c.7195C>T (p.Pro2399Ser) SNV
Germline
Chr16:88434665 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Condition: not provided
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA10648288 rs_759032227

6 SubmittersRCV000352275RCV001092211RCV002365386

NM_001367624.2(ZNF469):c.7817A>C (p.Gln2606Pro) SNV
Germline
Chr16:88435287 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Condition: not provided
Cardiovascular phenotype
not specified
Criteria Provided
Conflicting Classifications
CA10648295 rs_529250336

5 SubmittersRCV000269888RCV002056530RCV002402041RCV005238903

NM_001367624.2(ZNF469):c.8344C>T (p.His2782Tyr) SNV
Germline
Chr16:88435814 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Condition: not provided
Cardiovascular phenotype
not specified
Criteria Provided
Conflicting Classifications
CA8225327 rs_553227769

9 SubmittersRCV000282615RCV000658754RCV002429275RCV005431613

NM_001367624.2(ZNF469):c.8625G>A (p.Pro2875=) SNV
Germline
Chr16:88436095 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Condition: not provided
Ehlers-Danlos syndrome
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA8225348 rs_138771545

5 SubmittersRCV000406152RCV001712038RCV002278473RCV002446574

NM_001367624.2(ZNF469):c.8642G>A (p.Arg2881His) SNV
Germline
Chr16:88436112 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Condition: not provided
ZNF469-related disorder
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA8225351 rs_142753357

5 SubmittersRCV000365409RCV001560800RCV003910220RCV002446575

NM_001367624.2(ZNF469):c.9024C>T (p.Asp3008=) SNV
Germline
Chr16:88436494 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10648301 rs_886052415

3 SubmittersRCV000282944RCV001697758

NM_001367624.2(ZNF469):c.9174G>A (p.Leu3058=) SNV
Germline
Chr16:88436644 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Condition: not provided
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA10648302 rs_886052416

3 SubmittersRCV000340333RCV002056534RCV002446580

NM_001367624.2(ZNF469):c.9373C>T (p.Arg3125Cys) SNV
Germline
Chr16:88436843 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Condition: not provided
Ehlers-Danlos syndrome
Cardiovascular phenotype
not specified
ZNF469-related disorder
Criteria Provided
Conflicting Classifications
CA8225427 rs_543370102

9 SubmittersRCV000343909RCV001171785RCV002278477RCV002374550RCV004701409RCV004751462

NM_001367624.2(ZNF469):c.9894C>T (p.Asp3298=) SNV
Germline
Chr16:88437364 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Cardiovascular phenotype
Condition: not provided
Criteria Provided
Conflicting Classifications
CA8225463 rs_551298094

3 SubmittersRCV000369723RCV002374552RCV002521074

NM_001367624.2(ZNF469):c.9921G>A (p.Thr3307=) SNV
Germline
Chr16:88437391 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Condition: not provided
Cardiovascular phenotype
Ehlers-Danlos syndrome
ZNF469-related disorder
Criteria Provided
Conflicting Classifications
CA8225465 rs_533072680

7 SubmittersRCV000277485RCV001705479RCV002379204RCV002278479RCV003969909

NM_001367624.2(ZNF469):c.10331G>T (p.Gly3444Val) SNV
Germline
Chr16:88437801 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Condition: not provided
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA8225504 rs_530393871

4 SubmittersRCV000377552RCV001565582RCV002379208

NM_001367624.2(ZNF469):c.10572C>T (p.Pro3524=) SNV
Germline
Chr16:88438042 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Condition: not provided
Cardiovascular phenotype
not specified
Criteria Provided
Conflicting Classifications
CA8225527 rs_763317477

6 SubmittersRCV000266643RCV001578254RCV002402042RCV005418077

NM_001367624.2(ZNF469):c.1048G>A (p.Asp350Asn) SNV
Germline
Chr16:88428518 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Cardiovascular phenotype
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10649142 rs_568820656

3 SubmittersRCV000295437RCV002402034RCV004791409

NM_001367624.2(ZNF469):c.1471G>A (p.Ala491Thr) SNV
Germline
Chr16:88428941 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Condition: not provided
Ehlers-Danlos syndrome
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA8224677 rs_117555121

6 SubmittersRCV000405817RCV000487882RCV002278434RCV002392871

NM_001367624.2(ZNF469):c.1663G>A (p.Asp555Asn) SNV
Germline
Chr16:88429133 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Condition: not provided
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA8224694 rs_749179728

4 SubmittersRCV000328233RCV002056513RCV002402037

NM_001367624.2(ZNF469):c.1932G>C (p.Thr644=) SNV
Germline
Chr16:88429402 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Cardiovascular phenotype
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10649147 rs_539996728

3 SubmittersRCV000281635RCV002411214RCV003765859

NM_001367624.2(ZNF469):c.2693C>T (p.Pro898Leu) SNV
Germline
Chr16:88430163 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Condition: not provided
Cardiovascular phenotype
not specified
Criteria Provided
Conflicting Classifications
CA8224793 rs_754458926

6 SubmittersRCV000317204RCV001843510RCV002450880RCV005238896

NM_001367624.2(ZNF469):c.2931C>T (p.Gly977=) SNV
Germline
Chr16:88430401 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Condition: not provided
Ehlers-Danlos syndrome
Cardiovascular phenotype
ZNF469-related disorder
Criteria Provided
Conflicting Classifications
CA8224816 rs_539527724

6 SubmittersRCV000404639RCV001512572RCV002278448RCV002436172RCV003940260

NM_001367624.2(ZNF469):c.2953G>A (p.Gly985Ser) SNV
Germline
Chr16:88430423 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Condition: not provided
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA10649165 rs_886052399

3 SubmittersRCV000277875RCV001726113RCV002436174

NM_001367624.2(ZNF469):c.3918G>A (p.Gly1306=) SNV
Germline
Chr16:88431388 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Condition: not provided
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA8224900 rs_768501538

4 SubmittersRCV000298267RCV001552761RCV002365376

NM_001367624.2(ZNF469):c.4198C>A (p.Pro1400Thr) SNV
Germline
Chr16:88431668 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Condition: not provided
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA8224921 rs_145158875

7 SubmittersRCV000358831RCV001579875RCV002323525

NM_001367624.2(ZNF469):c.4216G>T (p.Asp1406Tyr) SNV
Germline
Chr16:88431686 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Condition: not provided
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA8224922 rs_557997233

4 SubmittersRCV000264321RCV001568572RCV002328835

NM_001367624.2(ZNF469):c.4479G>A (p.Pro1493=) SNV
Germline
Chr16:88431949 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Condition: not provided
Cardiovascular phenotype
ZNF469-related disorder
not specified
Criteria Provided
Conflicting Classifications
CA8224967 rs_373162171

7 SubmittersRCV000407280RCV001718668RCV002328842RCV003957654RCV004586684

NM_001367624.2(ZNF469):c.4849C>T (p.Pro1617Ser) SNV
Germline
Chr16:88432319 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Condition: not provided
Cardiovascular phenotype
ZNF469-related disorder
Criteria Provided
Conflicting Classifications
CA8225011 rs_557351664

4 SubmittersRCV000301912RCV001850709RCV002338906RCV004751460

NM_001367624.2(ZNF469):c.4892G>A (p.Gly1631Glu) SNV
Germline
Chr16:88432362 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Condition: not provided
Cardiovascular phenotype
not specified
Criteria Provided
Conflicting Classifications
CA8225022 rs_755244502

4 SubmittersRCV000402900RCV002521071RCV005520271RCV005418076

NM_001367624.2(ZNF469):c.4907A>G (p.His1636Arg) SNV
Germline
Chr16:88432377 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Condition: not provided
Cardiovascular phenotype
ZNF469-related disorder
Criteria Provided
Conflicting Classifications
CA8225023 rs_557636016

4 SubmittersRCV000307640RCV001859905RCV002338908RCV003922357

NM_001367624.2(ZNF469):c.5145G>A (p.Arg1715=) SNV
Germline
Chr16:88432615 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Condition: not provided
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA8225046 rs_577775261

5 SubmittersRCV000273548RCV001092208RCV002348061

NM_001367624.2(ZNF469):c.5150C>G (p.Pro1717Arg) SNV
Germline
Chr16:88432620 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Cardiovascular phenotype
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10649182 rs_544832628

3 SubmittersRCV000334066RCV003298378RCV005055878

NM_001367624.2(ZNF469):c.5856T>C (p.Cys1952=) SNV
Germline
Chr16:88433326 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Condition: not provided
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA8225109 rs_186652137

4 SubmittersRCV000342335RCV001718670RCV002356434

NM_001367624.2(ZNF469):c.5862C>G (p.Pro1954=) SNV
Germline
Chr16:88433332 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Condition: not provided
Cardiovascular phenotype
Ehlers-Danlos syndrome
ZNF469-related disorder
Criteria Provided
Conflicting Classifications
CA8225112 rs_201666199

6 SubmittersRCV000392034RCV001538269RCV002356435RCV002278463RCV004751461

NM_001367624.2(ZNF469):c.6075G>A (p.Ala2025=) SNV
Germline
Chr16:88433545 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Condition: not provided
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA8225125 rs_373300146

3 SubmittersRCV000313082RCV002056525RCV002356438

NM_001367624.2(ZNF469):c.7497G>A (p.Pro2499=) SNV
Germline
Chr16:88434967 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Condition: not provided
Cardiovascular phenotype
not specified
Criteria Provided
Conflicting Classifications
CA8225250 rs_768288160

4 SubmittersRCV000355674RCV002522897RCV002379199RCV005238901

NM_001367624.2(ZNF469):c.7716G>A (p.Gln2572=) SNV
Germline
Chr16:88435186 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Condition: not provided
Cardiovascular phenotype
Ehlers-Danlos syndrome
not specified
Criteria Provided
Conflicting Classifications
CA8225277 rs_775513309

6 SubmittersRCV000266726RCV000434544RCV002392876RCV002278468RCV005238902

NM_001367624.2(ZNF469):c.8387C>G (p.Pro2796Arg) SNV
Germline
Chr16:88435857 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Condition: not provided
Cardiovascular phenotype
not specified
Criteria Provided
Conflicting Classifications
CA10649195 rs_886052412

7 SubmittersRCV000339950RCV001582960RCV002429276RCV005431614

NM_001367624.2(ZNF469):c.8430G>A (p.Ala2810=) SNV
Germline
Chr16:88435900 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Condition: not provided
Ehlers-Danlos syndrome
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA8225334 rs_574024256

5 SubmittersRCV000406769RCV000609860RCV002278471RCV002436175

NM_001367624.2(ZNF469):c.8785G>A (p.Glu2929Lys) SNV
Germline
Chr16:88436255 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Condition: not provided
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA8225372 rs_578166707

4 SubmittersRCV000368805RCV001582961RCV003380549

NM_001367624.2(ZNF469):c.8806G>A (p.Glu2936Lys) SNV
Germline
Chr16:88436276 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Cardiovascular phenotype
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10649202 rs_762301873

3 SubmittersRCV000334120RCV002446578RCV002521072

NM_001367624.2(ZNF469):c.8856C>T (p.Asp2952=) SNV
Germline
Chr16:88436326 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Cardiovascular phenotype
Condition: not provided
Criteria Provided
Conflicting Classifications
CA8225382 rs_766581620

3 SubmittersRCV000371584RCV002446579RCV003765863

NM_001367624.2(ZNF469):c.8869G>A (p.Gly2957Ser) SNV
Germline
Chr16:88436339 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Condition: not provided
Cardiovascular phenotype
Ehlers-Danlos syndrome
Criteria Provided
Conflicting Classifications
CA8225386 rs_573884006

5 SubmittersRCV000279317RCV001705478RCV002374547RCV002278474

NM_001367624.2(ZNF469):c.9705G>A (p.Ala3235=) SNV
Germline
Chr16:88437175 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Cardiovascular phenotype
Condition: not provided
Criteria Provided
Conflicting Classifications
CA8225448 rs_757816736

3 SubmittersRCV000392036RCV002374551RCV002521073

NM_001367624.2(ZNF469):c.10330G>C (p.Gly3444Arg) SNV
Germline
Chr16:88437800 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
not specified
Condition: not provided
Cardiovascular phenotype
ZNF469-related disorder
Criteria Provided
Conflicting Classifications
CA8225502 rs_569602115

7 SubmittersRCV000320795RCV000488947RCV002056535RCV002379207RCV003957656

NM_001367624.2(ZNF469):c.10740C>T (p.Asn3580=) SNV
Germline
Chr16:88438210 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Cardiovascular phenotype
Condition: not provided
Criteria Provided
Conflicting Classifications
CA8225547 rs_527707590

3 SubmittersRCV000345986RCV002411218RCV003546521

NM_001367624.2(ZNF469):c.11546G>A (p.Arg3849Gln) SNV
Germline
Chr16:88439016 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Condition: not provided
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA8225620 rs_775672255

3 SubmittersRCV000303424RCV001770259RCV002450884

NM_001367624.2(ZNF469):c.11566C>T (p.Arg3856Cys) SNV
Germline
Chr16:88439036 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA8225621 rs_762894872

2 SubmittersRCV000360452RCV002450885

NM_001367624.2(ZNF469):c.1609G>A (p.Val537Met) SNV
Germline
Chr16:88429079 Conflicting classifications of pathogenicity Condition: not provided
Brittle cornea syndrome 1
not specified
ZNF469-related disorder
Cardiovascular phenotype
Ehlers-Danlos syndrome
Criteria Provided
Conflicting Classifications
CA8224690 rs_184458982

11 SubmittersRCV000488174RCV003137993RCV005431649RCV003902458RCV002402101RCV002278643

NM_001367624.2(ZNF469):c.5914G>A (p.Gly1972Arg) SNV
Germline
Chr16:88433384 Conflicting classifications of pathogenicity not specified
Brittle cornea syndrome 1
Condition: not provided
Ehlers-Danlos syndrome
Cardiovascular phenotype
ZNF469-related disorder
Criteria Provided
Conflicting Classifications
CA8225115 rs_766410344

8 SubmittersRCV000413617RCV000764089RCV002058871RCV002278649RCV002356512RCV003950323

NM_001367624.2(ZNF469):c.9079C>T (p.Arg3027Cys) SNV
Germline
Chr16:88436549 Conflicting classifications of pathogenicity Condition: not provided
Cardiovascular phenotype
Brittle cornea syndrome 1
Criteria Provided
Conflicting Classifications
CA8225405 rs_376513000

4 SubmittersRCV001712355RCV002374621RCV002480268

NM_001367624.2(ZNF469):c.19C>T (p.Arg7Ter) SNV
Germline
Chr16:88427489 Conflicting classifications of pathogenicity Condition: not provided
Brittle cornea syndrome 1
Cardiovascular phenotype
Ehlers-Danlos syndrome
Criteria Provided
Conflicting Classifications
CA16607117 rs_1004428835

6 SubmittersRCV000443600RCV002298588RCV002418302RCV002279199

NM_001367624.2(ZNF469):c.751C>A (p.Pro251Thr) SNV
Germline
Chr16:88428221 Conflicting classifications of pathogenicity Condition: not provided
Brittle cornea syndrome 1
Cardiovascular phenotype
ZNF469-related disorder
Criteria Provided
Conflicting Classifications
CA8224622 rs_540655479

6 SubmittersRCV001720029RCV002244876RCV002392966RCV003959886

NM_001367624.2(ZNF469):c.11221G>A (p.Gly3741Ser) SNV
Germline
Chr16:88438691 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Cardiovascular phenotype
Condition: not provided
Criteria Provided
Conflicting Classifications
CA8225592 rs_745385522

5 SubmittersRCV001270129RCV002436321RCV001861588

NM_001367624.2(ZNF469):c.8788G>T (p.Asp2930Tyr) SNV
Germline
Chr16:88436258 Conflicting classifications of pathogenicity Condition: not provided
Brittle cornea syndrome 1
Ehlers-Danlos syndrome
Cardiovascular phenotype
not specified
Criteria Provided
Conflicting Classifications
CA8225373 rs_76792613

10 SubmittersRCV000727029RCV000765314RCV002279241RCV002376872RCV005239066

NM_001367624.2(ZNF469):c.9368G>A (p.Arg3123His) SNV
Germline
Chr16:88436838 Conflicting classifications of pathogenicity not specified
Brittle cornea syndrome 1
Condition: not provided
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA8225426 rs_536601676

4 SubmittersRCV000485496RCV000765315RCV002063823RCV002376888

NM_001367624.2(ZNF469):c.10888C>T (p.Arg3630Cys) SNV
Germline
Chr16:88438358 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Condition: not provided
Ehlers-Danlos syndrome
Cardiovascular phenotype
not specified
Criteria Provided
Conflicting Classifications
CA8225560 rs_200668806

10 SubmittersRCV000765316RCV001531857RCV002279246RCV002420232RCV005239068

NM_001367624.2(ZNF469):c.3452C>T (p.Ala1151Val) SNV
Germline
Chr16:88430922 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Condition: not provided
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA8224854 rs_755348435

5 SubmittersRCV000764086RCV001851303RCV002455944

NM_001367624.2(ZNF469):c.1483C>T (p.Pro495Ser) SNV
Germline
Chr16:88428953 Conflicting classifications of pathogenicity Condition: not provided
Brittle cornea syndrome 1
Ehlers-Danlos syndrome
Cardiovascular phenotype
ZNF469-related disorder
not specified
Criteria Provided
Conflicting Classifications
CA8224678 rs_202205643

12 SubmittersRCV000728426RCV000764084RCV002279267RCV002395196RCV003419830RCV005407153

NM_001367624.2(ZNF469):c.8705C>T (p.Thr2902Met) SNV
Germline
Chr16:88436175 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Condition: not provided
Ehlers-Danlos syndrome
Cardiovascular phenotype
not specified
Criteria Provided
Conflicting Classifications
CA8225361 rs_536725615

7 SubmittersRCV000765313RCV000584880RCV002279268RCV002376906RCV005418168

NM_001367624.2(ZNF469):c.585C>G (p.Asn195Lys) SNV
Germline
Chr16:88428055 Conflicting classifications of pathogenicity Condition: not provided
ZNF469-related disorder
Brittle cornea syndrome 1
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA286371735 rs_896312288

5 SubmittersRCV001707723RCV003403240RCV002490919RCV005520296

NM_001367624.2(ZNF469):c.8599G>A (p.Gly2867Ser) SNV
Germline
Chr16:88436069 Conflicting classifications of pathogenicity Condition: not provided
ZNF469-related disorder
Brittle cornea syndrome 1
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA286384276 rs_745468033

5 SubmittersRCV001696926RCV003403241RCV002497030RCV004023608

NM_001367624.2(ZNF469):c.9316C>T (p.Arg3106Trp) SNV
Germline
Chr16:88436786 Conflicting classifications of pathogenicity Condition: not provided
Brittle cornea syndrome 1
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA397121818 rs_1292941352

4 SubmittersRCV001722446RCV002481728RCV002376969

NM_001367624.2(ZNF469):c.10328G>A (p.Gly3443Glu) SNV
Germline
Chr16:88437798 Conflicting classifications of pathogenicity Condition: not provided
Cardiovascular phenotype
Brittle cornea syndrome 1
Criteria Provided
Conflicting Classifications
CA8225498 rs_140056980

4 SubmittersRCV001722448RCV003380598RCV005398762

NM_001367624.2(ZNF469):c.10762G>A (p.Gly3588Arg) SNV
Germline
Chr16:88438232 Conflicting classifications of pathogenicity Condition: not provided
Cardiovascular phenotype
Brittle cornea syndrome 1
Criteria Provided
Conflicting Classifications
CA8225550 rs_750481489

4 SubmittersRCV001731747RCV002413413RCV002497024

NM_001367624.2(ZNF469):c.8064C>T (p.Asp2688=) SNV
Germline
Chr16:88435534 Conflicting classifications of pathogenicity Condition: not provided
Cardiovascular phenotype
Ehlers-Danlos syndrome
Brittle cornea syndrome 1
ZNF469-related disorder
Criteria Provided
Conflicting Classifications
CA8225304 rs_558108271

7 SubmittersRCV001697451RCV002413708RCV002279397RCV002245044RCV003915774

NM_001367624.2(ZNF469):c.5006C>T (p.Ala1669Val) SNV
Germline
Chr16:88432476 Conflicting classifications of pathogenicity not specified
Condition: not provided
Ehlers-Danlos syndrome
Cardiovascular phenotype
Brittle cornea syndrome 1
Criteria Provided
Conflicting Classifications
CA8225034 rs_200070902

9 SubmittersRCV000603553RCV001531245RCV002279386RCV002350440RCV005392163

NM_001367624.2(ZNF469):c.10326G>T (p.Arg3442Ser) SNV
Germline
Chr16:88437796 Conflicting classifications of pathogenicity Condition: not provided
Ehlers-Danlos syndrome
Cardiovascular phenotype
Brittle cornea syndrome 1
Criteria Provided
Conflicting Classifications
CA8225495 rs_56236932

5 SubmittersRCV001697875RCV002279411RCV002377272RCV005392171

NM_001367624.2(ZNF469):c.4910G>A (p.Arg1637Gln) SNV
Germline
Chr16:88432380 Conflicting classifications of pathogenicity Condition: not provided
Cardiovascular phenotype
Brittle cornea syndrome 1
Criteria Provided
Conflicting Classifications
CA8225025 rs_273585621

5 SubmittersRCV000761946RCV002332540RCV005392356

NM_001367624.2(ZNF469):c.8111A>C (p.Glu2704Ala) SNV
Germline
Chr16:88435581 Conflicting classifications of pathogenicity Condition: not provided
Brittle cornea syndrome 1
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA286383625 rs_930146121

3 SubmittersRCV000996370RCV005394602RCV002416278

NM_001367624.2(ZNF469):c.11545C>T (p.Arg3849Trp) SNV
Germline
Chr16:88439015 Conflicting classifications of pathogenicity Condition: not provided
Cardiovascular phenotype
Brittle cornea syndrome 1
Criteria Provided
Conflicting Classifications
CA8225619 rs_770109867

5 SubmittersRCV000996379RCV002454242RCV002497303

NM_001367624.2(ZNF469):c.216G>T (p.Glu72Asp) SNV
Germline
Chr16:88427686 Conflicting classifications of pathogenicity Condition: not provided
Cardiovascular phenotype
Brittle cornea syndrome 1
Criteria Provided
Conflicting Classifications
CA8224576 rs_543285355

5 SubmittersRCV001092204RCV002429753RCV005394734

NM_001367624.2(ZNF469):c.5915G>T (p.Gly1972Val) SNV
Germline
Chr16:88433385 Conflicting classifications of pathogenicity Condition: not provided
ZNF469-related disorder
Brittle cornea syndrome 1
not specified
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA286381028 rs_573931575

7 SubmittersRCV001092209RCV004751880RCV005394735RCV005408691RCV002355109

NM_001367624.2(ZNF469):c.8931C>G (p.His2977Gln) SNV
Germline
Chr16:88436401 Conflicting classifications of pathogenicity Condition: not provided
Cardiovascular phenotype
Brittle cornea syndrome 1
Criteria Provided
Conflicting Classifications
CA8225387 rs_758398877

4 SubmittersRCV001093034RCV002375018RCV005394737

NM_001367624.2(ZNF469):c.11318G>A (p.Arg3773Gln) SNV
Germline
Chr16:88438788 Conflicting classifications of pathogenicity Condition: not provided
Cardiovascular phenotype
Brittle cornea syndrome 1
not specified
Criteria Provided
Conflicting Classifications
CA8225601 rs_571622809

6 SubmittersRCV001093037RCV002436701RCV002480459RCV005236596

NM_001367624.2(ZNF469):c.5332C>A (p.Pro1778Thr) SNV
Germline
Chr16:88432802 Conflicting classifications of pathogenicity Condition: not provided
Brittle cornea syndrome 1
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA286377313 rs_528985816

6 SubmittersRCV001200604RCV004783909RCV002339496

NM_001367624.2(ZNF469):c.3307C>T (p.Gln1103Ter) SNV
Germline
Chr16:88430777 Pathogenic Brittle cornea syndrome 1 Criteria Provided
Single Submitter
CA397079836 rs_1906110243

1 SubmittersRCV001260233

NM_001367624.2(ZNF469):c.5297G>A (p.Arg1766Gln) SNV
Germline
Chr16:88432767 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Condition: not provided
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA8225064 rs_571207087

4 SubmittersRCV001330322RCV001547495RCV004601458

NM_001367624.2(ZNF469):c.11164G>A (p.Ala3722Thr) SNV
Germline
Chr16:88438634 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Condition: not provided
Ehlers-Danlos syndrome
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA286387672 rs_549874193

5 SubmittersRCV001333791RCV001859315RCV002276693RCV002438764

NM_001367624.2(ZNF469):c.10717G>A (p.Gly3573Arg) SNV
Germline
Chr16:88438187 Conflicting classifications of pathogenicity Condition: not provided
Ehlers-Danlos syndrome
Cardiovascular phenotype
Brittle cornea syndrome 1
ZNF469-related disorder
Criteria Provided
Conflicting Classifications
CA8225546 rs_183149417

7 SubmittersRCV001531856RCV002276762RCV002414252RCV003224567RCV003966152

NM_001367624.2(ZNF469):c.4507C>G (p.Leu1503Val) SNV
Germline
Chr16:88431977 Conflicting classifications of pathogenicity Condition: not provided
Cardiovascular phenotype
Ehlers-Danlos syndrome
Brittle cornea syndrome 1
Criteria Provided
Conflicting Classifications
CA8224968 rs_139043003

5 SubmittersRCV001541215RCV002329661RCV002276766RCV003224568

NM_001367624.2(ZNF469):c.7102G>A (p.Gly2368Ser) SNV
Germline
Chr16:88434572 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Condition: not provided
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA8225213 rs_533944505

4 SubmittersRCV001837009RCV001551269RCV003161081

NM_001367624.2(ZNF469):c.8458G>A (p.Gly2820Ser) SNV
Germline
Chr16:88435928 Conflicting classifications of pathogenicity Condition: not provided
Ehlers-Danlos syndrome
Cardiovascular phenotype
Brittle cornea syndrome 1
Criteria Provided
Conflicting Classifications
CA8225337 rs_761603858

6 SubmittersRCV001562480RCV002276792RCV002440800RCV002488380

NM_001367624.2(ZNF469):c.3752C>T (p.Ala1251Val) SNV
Germline
Chr16:88431222 Conflicting classifications of pathogenicity Condition: not provided
Cardiovascular phenotype
Brittle cornea syndrome 1
Criteria Provided
Conflicting Classifications
CA8224884 rs_190928557

4 SubmittersRCV001566385RCV002458533RCV005395077

NM_001367624.2(ZNF469):c.8590C>G (p.Pro2864Ala) SNV
Germline
Chr16:88436060 Conflicting classifications of pathogenicity Cardiovascular phenotype
Ehlers-Danlos syndrome
Condition: not provided
Brittle cornea syndrome 1
Criteria Provided
Conflicting Classifications
CA8225344 rs_751901105

5 SubmittersRCV002449369RCV002276794RCV001564808RCV005014590

NM_001367624.2(ZNF469):c.10199C>T (p.Pro3400Leu) SNV
Germline
Chr16:88437669 Conflicting classifications of pathogenicity Condition: not provided
Brittle cornea syndrome 1
Cardiovascular phenotype
not specified
Criteria Provided
Conflicting Classifications
CA8225481 rs_281165933

5 SubmittersRCV001565935RCV002243305RCV002324142RCV001815038

NM_001367624.2(ZNF469):c.8641C>T (p.Arg2881Cys) SNV
Germline
Chr16:88436111 Conflicting classifications of pathogenicity Condition: not provided
Brittle cornea syndrome 1
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA8225350 rs_529243785

4 SubmittersRCV001587516RCV005429058RCV004039470

NM_001367624.2(ZNF469):c.745G>A (p.Gly249Arg) SNV
Germline
Chr16:88428215 Conflicting classifications of pathogenicity Condition: not provided
Cardiovascular phenotype
Brittle cornea syndrome 1
Criteria Provided
Conflicting Classifications
CA397061869 rs_1163683032

4 SubmittersRCV001589558RCV002386474RCV002476890

NM_001367624.2(ZNF469):c.7340G>C (p.Arg2447Thr) SNV
Germline
Chr16:88434810 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA8225237 rs_558035857

2 SubmittersRCV001733541RCV002370269

NM_001367624.2(ZNF469):c.1768G>A (p.Glu590Lys) SNV
Germline
Chr16:88429238 Conflicting classifications of pathogenicity Condition: not provided
Cardiovascular phenotype
Brittle cornea syndrome 1
Criteria Provided
Conflicting Classifications
CA8224703 rs_571115191

4 SubmittersRCV001754215RCV002405286RCV005396982

NM_001367624.2(ZNF469):c.676G>A (p.Glu226Lys) SNV
Germline
Chr16:88428146 Conflicting classifications of pathogenicity Condition: not provided
Cardiovascular phenotype
Brittle cornea syndrome 1
Criteria Provided
Conflicting Classifications
CA8224610 rs_546141859

5 SubmittersRCV001764972RCV002361018RCV002488538

NM_001367624.2(ZNF469):c.10707C>A (p.Cys3569Ter) SNV
Germline
Chr16:88438177 Likely pathogenic Brittle cornea syndrome 1 Criteria Provided
Single Submitter
CA286387114 rs_760186083

1 SubmittersRCV001806810

NM_001367624.2(ZNF469):c.10889G>A (p.Arg3630His) SNV
Germline
Chr16:88438359 Conflicting classifications of pathogenicity not specified
Ehlers-Danlos syndrome
Cardiovascular phenotype
Brittle cornea syndrome 1
Criteria Provided
Conflicting Classifications
CA8225561 rs_758123475

4 SubmittersRCV001844555RCV002276906RCV002422876RCV005397037

NM_001367624.2(ZNF469):c.9327G>C (p.Lys3109Asn) SNV
Germline
Chr16:88436797 Conflicting classifications of pathogenicity Condition: not provided
Cardiovascular phenotype
Brittle cornea syndrome 1
Criteria Provided
Conflicting Classifications
CA286385293 rs_369198557

4 SubmittersRCV001934401RCV002370576RCV005429073

NM_001367624.2(ZNF469):c.4972T>A (p.Trp1658Arg) SNV
Germline
Chr16:88432442 Conflicting classifications of pathogenicity Condition: not provided
Cardiovascular phenotype
Ehlers-Danlos syndrome
Brittle cornea syndrome 1
Criteria Provided
Conflicting Classifications
CA8225031 rs_554985503

5 SubmittersRCV001900151RCV002334756RCV002276917RCV002506906

NM_001367624.2(ZNF469):c.793G>A (p.Gly265Ser) SNV
Germline
Chr16:88428263 Conflicting classifications of pathogenicity Condition: not provided
Cardiovascular phenotype
Brittle cornea syndrome 1
Criteria Provided
Conflicting Classifications
CA8224628 rs_754776767

3 SubmittersRCV002019550RCV002423219RCV005017046

NM_001367624.2(ZNF469):c.8350C>T (p.Arg2784Ter) SNV
Germline
Chr16:88435820 Pathogenic/Likely pathogenic Condition: not provided
Brittle cornea syndrome 1
Criteria Provided
Multiple Submitters
No Conflicts
CA397117497 rs_1172315984

3 SubmittersRCV001902073RCV002509711

NM_001367624.2(ZNF469):c.2896G>A (p.Gly966Arg) SNV
Germline
Chr16:88430366 Conflicting classifications of pathogenicity Condition: not provided
Brittle cornea syndrome 1
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA286374249 rs_1037451392

3 SubmittersRCV002015641RCV005397257RCV005520658

NM_001367624.2(ZNF469):c.4447G>A (p.Ala1483Thr) SNV
Germline
Chr16:88431917 Conflicting classifications of pathogenicity Condition: not provided
Brittle cornea syndrome 1
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA286376109 rs_273585620

4 SubmittersRCV002033329RCV002489921RCV004038797

NM_001367624.2(ZNF469):c.2119C>T (p.Arg707Cys) SNV
Germline
Chr16:88429589 Conflicting classifications of pathogenicity Condition: not provided
Ehlers-Danlos syndrome
Brittle cornea syndrome 1
not specified
Criteria Provided
Conflicting Classifications
CA8224745 rs_188954563

6 SubmittersRCV002197467RCV002277004RCV005017113RCV005406305

NM_001367624.2(ZNF469):c.7595G>T (p.Arg2532Met) SNV
Germline
Chr16:88435065 Conflicting classifications of pathogenicity Condition: not provided
Ehlers-Danlos syndrome
Cardiovascular phenotype
Brittle cornea syndrome 1
Criteria Provided
Conflicting Classifications
CA8225265 rs_553909579

5 SubmittersRCV002211369RCV002277043RCV002391370RCV003485768

NM_001367624.2(ZNF469):c.1276G>A (p.Glu426Lys) SNV
Germline
Chr16:88428746 Conflicting classifications of pathogenicity Condition: not provided
Brittle cornea syndrome 1
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA397064155 rs_1211886658

3 SubmittersRCV003085026RCV005399109RCV004992506

NM_001367624.2(ZNF469):c.3466G>A (p.Glu1156Lys) SNV
Germline
Chr16:88430936 Conflicting classifications of pathogenicity Condition: not provided
Brittle cornea syndrome 1
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA286374877 rs_899515970

3 SubmittersRCV003111786RCV005399243RCV004242042

NM_001367624.2(ZNF469):c.8866C>A (p.Pro2956Thr) SNV
Germline
Chr16:88436336 Conflicting classifications of pathogenicity Condition: not provided
Brittle cornea syndrome 1
Criteria Provided
Conflicting Classifications
CA8225384 rs_575854370

2 SubmittersRCV002601000RCV004527448

NM_001367624.2(ZNF469):c.3875G>C (p.Ser1292Thr) SNV
Germline
Chr16:88431345 Conflicting classifications of pathogenicity Condition: not provided
ZNF469-related disorder
Cardiovascular phenotype
not specified
Brittle cornea syndrome 1
Criteria Provided
Conflicting Classifications
CA8224895 rs_183126539

5 SubmittersRCV002975675RCV003943662RCV004068279RCV005239569RCV005399044

NM_001367624.2(ZNF469):c.8951C>T (p.Pro2984Leu) SNV
Germline
Chr16:88436421 Conflicting classifications of pathogenicity Cardiovascular phenotype
Condition: not provided
Brittle cornea syndrome 1
Criteria Provided
Conflicting Classifications
CA397119877 rs_1224474464

3 SubmittersRCV004089939RCV005059212RCV005399163

NM_001367624.2(ZNF469):c.8212G>T (p.Ala2738Ser) SNV
Germline
Chr16:88435682 Conflicting classifications of pathogenicity Cardiovascular phenotype
Brittle cornea syndrome 1
Criteria Provided
Conflicting Classifications

2 SubmittersRCV004605194RCV005015210

NM_001367624.2(ZNF469):c.3276C>G (p.Tyr1092Ter) SNV
Germline
Chr16:88430746 Likely pathogenic Brittle cornea syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV005017841