Total 130 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.11185G>A (p.Gly3729Ser) SNV
Germline
Chr16:88438655 Conflicting classifications of pathogenicity Keratoconus 1
Condition: not provided
Cardiovascular phenotype
ZNF469-related disorder
Brittle cornea syndrome 1
not specified
Criteria Provided
Conflicting Classifications
CA151275 rs_273585629

8 SubmittersRCV000114774RCV001854536RCV002433602RCV004751264RCV005394378RCV006456710

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

9 SubmittersRCV000114778RCV000371799RCV000490000RCV002426655RCV003952544RCV005055580

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

11 SubmittersRCV000114784RCV000991180RCV001588923RCV002243759RCV002354289RCV003935092RCV005406826

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
Cardiovascular phenotype
Brittle cornea syndrome 1
not specified
Criteria Provided
Conflicting Classifications
CA151309 rs_273585627

8 SubmittersRCV000114791RCV000520139RCV002381415RCV002483182RCV005237544

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
not specified
Criteria Provided
Conflicting Classifications
CA151325 rs_281865149

7 SubmittersRCV000114799RCV001657701RCV002277155RCV002336248RCV002477272RCV006451941

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

6 SubmittersRCV000114801RCV000487653RCV005394379RCV005520242

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

10 SubmittersRCV000173218RCV000281876RCV000512833RCV002277327RCV002426825

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

8 SubmittersRCV000625422RCV000724021RCV002277328RCV002336417

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

7 SubmittersRCV000175665RCV000764088RCV002277362RCV002336426

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
Cardiovascular phenotype
Ehlers-Danlos syndrome
ZNF469-related disorder
not specified
Criteria Provided
Conflicting Classifications
CA8224757 rs_753664726

12 SubmittersRCV000272637RCV000357499RCV002446519RCV002278273RCV003939971RCV005407012

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
Ehlers-Danlos syndrome
ZNF469-related disorder
Cardiovascular phenotype
Brittle cornea syndrome 1
Criteria Provided
Conflicting Classifications
CA8224758 rs_144492145

12 SubmittersRCV000325707RCV000725898RCV002278300RCV003909987RCV002450821RCV005396891

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

10 SubmittersRCV003226277RCV002278326RCV002402006RCV000381105RCV000585441RCV003920176

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.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

5 SubmittersRCV000295026RCV001577672RCV002328841

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

8 SubmittersRCV000359081RCV000512905RCV002392875RCV002278467RCV003940261RCV006441830

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
Cardiovascular phenotype
ZNF469-related disorder
not specified
Criteria Provided
Conflicting Classifications
CA8225342 rs_200153921

10 SubmittersRCV000304531RCV001712037RCV002278472RCV002411216RCV003972372RCV005238904

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
not specified
Criteria Provided
Conflicting Classifications
CA8224748 rs_571184307

7 SubmittersRCV000364914RCV001580482RCV002278440RCV002418178RCV006268732

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

8 SubmittersRCV000416177RCV000388630RCV002278459RCV002338912RCV005407056

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

8 SubmittersRCV000375933RCV000513538RCV002278460RCV002348062

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

11 SubmittersRCV000357348RCV000996378RCV002278485RCV002323527RCV002508931RCV003969910RCV003226279

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

9 SubmittersRCV000266288RCV000603861RCV002446573RCV002278450RCV005238897

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
not specified
Criteria Provided
Conflicting Classifications
CA10648288 rs_759032227

7 SubmittersRCV000352275RCV001092211RCV002365386RCV005894553

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

4 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.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.2693C>T (p.Pro898Leu) SNV
Germline
Chr16:88430163 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Cardiovascular phenotype
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA8224793 rs_754458926

6 SubmittersRCV000317204RCV002450880RCV001843510RCV005238896

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

6 SubmittersRCV000339950RCV001582960RCV002429276RCV005431614

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

6 SubmittersRCV000320795RCV000488947RCV002056535RCV002379207RCV003957656

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

12 SubmittersRCV000488174RCV002278643RCV002402101RCV003137993RCV003902458RCV005431649

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

9 SubmittersRCV000413617RCV000764089RCV002356512RCV002058871RCV002278649RCV003950323

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
not specified
Criteria Provided
Conflicting Classifications
CA8225405 rs_376513000

5 SubmittersRCV001712355RCV002374621RCV002480268RCV006452624

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
not specified
Criteria Provided
Conflicting Classifications
CA8224622 rs_540655479

8 SubmittersRCV001720029RCV002244876RCV002392966RCV003959886RCV006268766

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

11 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

5 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
Cardiovascular phenotype
Ehlers-Danlos syndrome
not specified
Criteria Provided
Conflicting Classifications
CA8225560 rs_200668806

11 SubmittersRCV000765316RCV001531857RCV002420232RCV002279246RCV005239068

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
not specified
Criteria Provided
Conflicting Classifications
CA8224854 rs_755348435

6 SubmittersRCV000764086RCV001851303RCV002455944RCV006452682

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

13 SubmittersRCV000764084RCV000728426RCV002395196RCV002279267RCV003419830RCV005407153

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

8 SubmittersRCV000584880RCV000765313RCV002279268RCV002376906RCV005418168

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
not specified
Criteria Provided
Conflicting Classifications
CA286371735 rs_896312288

6 SubmittersRCV001707723RCV003403240RCV002490919RCV005520296RCV006458468

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

6 SubmittersRCV001696926RCV002497030RCV004023608RCV003403241RCV006458469

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

4 SubmittersRCV001722446RCV002376969RCV002481728

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
not specified
Criteria Provided
Conflicting Classifications
CA8225498 rs_140056980

6 SubmittersRCV001722448RCV003380598RCV005398762RCV006438179

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
Ehlers-Danlos syndrome
Brittle cornea syndrome 1
Cardiovascular phenotype
ZNF469-related disorder
Criteria Provided
Conflicting Classifications
CA8225304 rs_558108271

7 SubmittersRCV001697451RCV002279397RCV002245044RCV002413708RCV003915774

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

10 SubmittersRCV000603553RCV001531245RCV002350440RCV002279386RCV005392163

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
not specified
Criteria Provided
Conflicting Classifications
CA8225495 rs_56236932

8 SubmittersRCV001697875RCV002279411RCV002377272RCV005392171RCV006438466

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
Cardiovascular phenotype
Brittle cornea syndrome 1
Criteria Provided
Conflicting Classifications
CA286383625 rs_930146121

3 SubmittersRCV000996370RCV002416278RCV005394602

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
not specified
Criteria Provided
Conflicting Classifications
CA8225619 rs_770109867

6 SubmittersRCV000996379RCV002454242RCV002497303RCV006453506

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
not specified
Criteria Provided
Conflicting Classifications
CA8224576 rs_543285355

6 SubmittersRCV001092204RCV002429753RCV005394734RCV006446020

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

8 SubmittersRCV001092209RCV002355109RCV004751880RCV005394735RCV005408691

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

5 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
Cardiovascular phenotype
Brittle cornea syndrome 1
not specified
Criteria Provided
Conflicting Classifications
CA286377313 rs_528985816

8 SubmittersRCV001200604RCV002339496RCV004783909RCV006453572

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 Condition: not provided
Brittle cornea syndrome 1
Cardiovascular phenotype
not specified
Criteria Provided
Conflicting Classifications
CA8225213 rs_533944505

6 SubmittersRCV001551269RCV001837009RCV003161081RCV006457402

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

7 SubmittersRCV002488380RCV001562480RCV006457414RCV002440800RCV002276792

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 Condition: not provided
Ehlers-Danlos syndrome
Cardiovascular phenotype
Brittle cornea syndrome 1
not specified
Criteria Provided
Conflicting Classifications
CA8225344 rs_751901105

6 SubmittersRCV001564808RCV002276794RCV002449369RCV005014590RCV006266862

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

6 SubmittersRCV001565935RCV001815038RCV002243305RCV002324142

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.266A>G (p.Lys89Arg) SNV
Germline
Chr16:88427736 Conflicting classifications of pathogenicity Condition: not provided
Brittle cornea syndrome 1
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA286371466 rs_1022368248

4 SubmittersRCV001592300RCV005865513RCV004995963

NM_001367624.2(ZNF469):c.7340G>C (p.Arg2447Thr) SNV
Germline
Chr16:88434810 Conflicting classifications of pathogenicity Brittle cornea syndrome 1
Cardiovascular phenotype
not specified
Criteria Provided
Conflicting Classifications
CA8225237 rs_558035857

3 SubmittersRCV001733541RCV002370269RCV006453737

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

5 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
not specified
Criteria Provided
Conflicting Classifications
CA8225031 rs_554985503

7 SubmittersRCV001900151RCV002334756RCV002276917RCV002506906RCV006453770

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.2617C>A (p.Pro873Thr) SNV
Germline
Chr16:88430087 Conflicting classifications of pathogenicity Condition: not provided
not specified
Brittle cornea syndrome 1
Criteria Provided
Conflicting Classifications
CA397073968 rs_1237408873

3 SubmittersRCV002012874RCV005433116RCV005864616

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
not specified
Criteria Provided
Conflicting Classifications
CA286374249 rs_1037451392

4 SubmittersRCV002015641RCV005397257RCV005520658RCV006458872

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
not specified
Brittle cornea syndrome 1
Criteria Provided
Conflicting Classifications
CA8224745 rs_188954563

6 SubmittersRCV002197467RCV002277004RCV005406305RCV005017113

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
Brittle cornea syndrome 1
not specified
Criteria Provided
Conflicting Classifications
CA8224895 rs_183126539

5 SubmittersRCV002975675RCV003943662RCV004068279RCV005399044RCV005239569

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