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 SubmittersRCV000114771 RCV000513443 RCV000393765 RCV002277152 RCV002381414 RCV003945043 RCV005406825
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 SubmittersRCV000114774 RCV001854536 RCV002433602 RCV005394378 RCV004751264
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 SubmittersRCV000371799 RCV000114778 RCV000490000 RCV002426655 RCV003952544 RCV005055580
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 SubmittersRCV000114784 RCV000991180 RCV002243759 RCV001588923 RCV002354289 RCV003935092 RCV005406826
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 SubmittersRCV000114788 RCV001836730 RCV002371938 RCV003317091 RCV004791268
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 SubmittersRCV000114791 RCV000520139 RCV002483182 RCV005237544 RCV002381415
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 SubmittersRCV000114799 RCV001657701 RCV002277155 RCV002336248 RCV002477272
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 SubmittersRCV000114801 RCV000487653 RCV005520242 RCV005394379
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 SubmittersRCV000173217 RCV000389080 RCV002054041 RCV002277326 RCV002408750
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 SubmittersRCV000173218 RCV000512833 RCV000281876 RCV002426825 RCV002277327
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 SubmittersRCV000625422 RCV000724021 RCV002336417 RCV002277328
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 SubmittersRCV000175661 RCV002228785
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 SubmittersRCV000175664 RCV000355749 RCV002056941 RCV002381571 RCV002277361
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 SubmittersRCV000175665 RCV000764088 RCV002336426 RCV002277362
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 SubmittersRCV000298464 RCV000724940 RCV002278264 RCV002374452
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 SubmittersRCV000285836 RCV000335927 RCV000487900 RCV002278267 RCV002328759 RCV003939954
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 SubmittersRCV000272637 RCV000357499 RCV002278273 RCV002446519 RCV003939971 RCV005407012
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 SubmittersRCV000261382 RCV000725180 RCV002338829 RCV002278274 RCV005407013
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 SubmittersRCV000268027 RCV000764087 RCV002338843 RCV004751430
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 SubmittersRCV000325707 RCV000725898 RCV002450821 RCV002278300 RCV003909987 RCV005396891
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 SubmittersRCV000381105 RCV000585441 RCV002278326 RCV002402006 RCV003226277 RCV003920176
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 SubmittersRCV000280666 RCV000831805 RCV002450919
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 SubmittersRCV000340282 RCV001564858
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 SubmittersRCV000349563 RCV001574811 RCV002450920
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 SubmittersRCV000286582 RCV000892558 RCV000601791 RCV003298407
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 SubmittersRCV000341675 RCV000584978 RCV002278566 RCV003950225 RCV002402070 RCV005437992
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 SubmittersRCV000334286 RCV001548254 RCV002278571 RCV002348102 RCV004757216
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 SubmittersRCV000398886 RCV002450921 RCV002520200
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 SubmittersRCV000315336 RCV002278572 RCV003736739 RCV005407073
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 SubmittersRCV000399185 RCV003766005 RCV005462951
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 SubmittersRCV000319425 RCV001690064 RCV002278430 RCV002374540 RCV003957653
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 SubmittersRCV000322825 RCV001718667 RCV002365375
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 SubmittersRCV000291021 RCV002522893 RCV002374542
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 SubmittersRCV000358233 RCV001697666 RCV002278435 RCV002402036
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 SubmittersRCV000288362 RCV002402038 RCV002056514
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 SubmittersRCV000342671 RCV002522894 RCV002436169 RCV005407053
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 SubmittersRCV000367740 RCV003556331
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 SubmittersRCV000320091 RCV002321995 RCV004760480 RCV005407054
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 SubmittersRCV000327077 RCV001536923 RCV002278451 RCV002450882 RCV005238898
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 SubmittersRCV000352903 RCV000487611 RCV002365377
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 SubmittersRCV000585365 RCV000406466 RCV002278454 RCV002356433 RCV005238899 RCV003950091
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 SubmittersRCV000324218 RCV001697756 RCV002278455 RCV002328836
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 SubmittersRCV000325404 RCV001570952 RCV002328838 RCV003972371 RCV005407055
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 SubmittersRCV000295026 RCV001577672 RCV002328841
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 SubmittersRCV000344001 RCV002056528 RCV003298379
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 SubmittersRCV000349899 RCV001569528 RCV002374545
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 SubmittersRCV000359081 RCV000512905 RCV002278467 RCV002392875 RCV003940261
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 SubmittersRCV000304531 RCV001712037 RCV002278472 RCV003972372 RCV002411216 RCV005238904
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 SubmittersRCV000308943 RCV001837823 RCV002379202 RCV003957655
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 SubmittersRCV000365992 RCV000512718 RCV002278478 RCV002379203
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 SubmittersRCV000298532 RCV000604161 RCV001850713 RCV002379205
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 SubmittersRCV000263311 RCV000996376 RCV000602561 RCV002278480 RCV002379206
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 SubmittersRCV000393704 RCV002446581 RCV003765864
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 SubmittersRCV000393691 RCV001515256 RCV002278483 RCV002429278 RCV003910221
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 SubmittersRCV000268070 RCV000996380 RCV002278486 RCV002356442
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 SubmittersRCV000279078 RCV001590953
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 SubmittersRCV000369675 RCV001531241 RCV003969908 RCV002429271 RCV005238892
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 SubmittersRCV000403705 RCV000761943 RCV002379197
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 SubmittersRCV000311608 RCV000497526 RCV002392870 RCV002278429 RCV003920363
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 SubmittersRCV000343682 RCV000604405 RCV002278433 RCV002374543
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 SubmittersRCV000292403 RCV002411211 RCV003765858
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 SubmittersRCV000373781 RCV001580076 RCV002278437 RCV002411213 RCV003920365
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 SubmittersRCV000364914 RCV001580482 RCV002278440 RCV002418178
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 SubmittersRCV000385961 RCV003678990 RCV005298480
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 SubmittersRCV000377433 RCV003765860
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 SubmittersRCV000380148 RCV001697755 RCV002450881
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 SubmittersRCV000346780 RCV001531243 RCV002450883 RCV002278452 RCV005431611
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 SubmittersRCV000327483 RCV002056523 RCV002338911
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 SubmittersRCV000388630 RCV000416177 RCV002278459 RCV002338912 RCV005407056
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 SubmittersRCV000375933 RCV000513538 RCV002348062 RCV002278460
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 SubmittersRCV000367707 RCV001697744 RCV002356439
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 SubmittersRCV000275844 RCV002356440 RCV001718671
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 SubmittersRCV000262769 RCV002365379 RCV003765861
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 SubmittersRCV000384522 RCV000428390 RCV001531246 RCV002278466 RCV002365384 RCV003922358
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 SubmittersRCV000393482 RCV001572363 RCV002374546 RCV005238900
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 SubmittersRCV000301825 RCV001590952 RCV002379201
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 SubmittersRCV000384416 RCV001697819 RCV002418179
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 SubmittersRCV000292404 RCV001311084 RCV004021682 RCV005055879
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 SubmittersRCV000286492 RCV001718672 RCV002278476 RCV002374549
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 SubmittersRCV000314671 RCV000584866 RCV002278482 RCV002429277 RCV005437990
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 SubmittersRCV000357348 RCV000996378 RCV002323527 RCV002278485 RCV003226279 RCV002508931 RCV003969910
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 SubmittersRCV000261936 RCV002348059
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 SubmittersRCV000260593 RCV002278431 RCV001574733 RCV002356431 RCV003920364 RCV005238893
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 SubmittersRCV000282947 RCV000761944 RCV002278432 RCV002379198 RCV004751459
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 SubmittersRCV000383007 RCV002056511 RCV002446572
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 SubmittersRCV000266161 RCV000487545 RCV002278436 RCV002392874 RCV003972370 RCV005238894
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 SubmittersRCV000403019 RCV000418434 RCV001712036 RCV002418176
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 SubmittersRCV000266288 RCV000603861 RCV002278450 RCV002446573 RCV005238897
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 SubmittersRCV000320869 RCV002323524 RCV001850708
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 SubmittersRCV000407223 RCV000488254 RCV004021680
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 SubmittersRCV000362377 RCV001171782 RCV003910219 RCV002338909
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 SubmittersRCV000281453 RCV001718669 RCV002278461 RCV002348063 RCV005431612
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 SubmittersRCV000287391 RCV001560497 RCV002348066
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 SubmittersRCV000377440 RCV004601157
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 SubmittersRCV000378729 RCV002365383 RCV003765862
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 SubmittersRCV000352275 RCV001092211 RCV002365386
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 SubmittersRCV000269888 RCV002056530 RCV002402041 RCV005238903
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 SubmittersRCV000282615 RCV000658754 RCV002429275 RCV005431613
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 SubmittersRCV000406152 RCV001712038 RCV002278473 RCV002446574
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 SubmittersRCV000365409 RCV001560800 RCV003910220 RCV002446575
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 SubmittersRCV000282944 RCV001697758
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 SubmittersRCV000340333 RCV002056534 RCV002446580
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 SubmittersRCV000343909 RCV001171785 RCV002278477 RCV002374550 RCV004701409 RCV004751462
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 SubmittersRCV000369723 RCV002374552 RCV002521074
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 SubmittersRCV000277485 RCV001705479 RCV002379204 RCV002278479 RCV003969909
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 SubmittersRCV000377552 RCV001565582 RCV002379208
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 SubmittersRCV000266643 RCV001578254 RCV002402042 RCV005418077
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 SubmittersRCV000295437 RCV002402034 RCV004791409
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 SubmittersRCV000405817 RCV000487882 RCV002278434 RCV002392871
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 SubmittersRCV000328233 RCV002056513 RCV002402037
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 SubmittersRCV000281635 RCV002411214 RCV003765859
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 SubmittersRCV000317204 RCV001843510 RCV002450880 RCV005238896
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 SubmittersRCV000404639 RCV001512572 RCV002278448 RCV002436172 RCV003940260
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 SubmittersRCV000277875 RCV001726113 RCV002436174
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 SubmittersRCV000298267 RCV001552761 RCV002365376
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 SubmittersRCV000358831 RCV001579875 RCV002323525
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 SubmittersRCV000264321 RCV001568572 RCV002328835
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 SubmittersRCV000407280 RCV001718668 RCV002328842 RCV003957654 RCV004586684
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 SubmittersRCV000301912 RCV001850709 RCV002338906 RCV004751460
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 SubmittersRCV000402900 RCV002521071 RCV005520271 RCV005418076
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 SubmittersRCV000307640 RCV001859905 RCV002338908 RCV003922357
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 SubmittersRCV000273548 RCV001092208 RCV002348061
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 SubmittersRCV000334066 RCV003298378 RCV005055878
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 SubmittersRCV000342335 RCV001718670 RCV002356434
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 SubmittersRCV000392034 RCV001538269 RCV002356435 RCV002278463 RCV004751461
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 SubmittersRCV000313082 RCV002056525 RCV002356438
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 SubmittersRCV000355674 RCV002522897 RCV002379199 RCV005238901
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 SubmittersRCV000266726 RCV000434544 RCV002392876 RCV002278468 RCV005238902
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 SubmittersRCV000339950 RCV001582960 RCV002429276 RCV005431614
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 SubmittersRCV000406769 RCV000609860 RCV002278471 RCV002436175
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 SubmittersRCV000368805 RCV001582961 RCV003380549
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 SubmittersRCV000334120 RCV002446578 RCV002521072
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 SubmittersRCV000371584 RCV002446579 RCV003765863
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 SubmittersRCV000279317 RCV001705478 RCV002374547 RCV002278474
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 SubmittersRCV000392036 RCV002374551 RCV002521073
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 SubmittersRCV000320795 RCV000488947 RCV002056535 RCV002379207 RCV003957656
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 SubmittersRCV000345986 RCV002411218 RCV003546521
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 SubmittersRCV000303424 RCV001770259 RCV002450884
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 SubmittersRCV000360452 RCV002450885
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 SubmittersRCV000488174 RCV003137993 RCV005431649 RCV003902458 RCV002402101 RCV002278643
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 SubmittersRCV000413617 RCV000764089 RCV002058871 RCV002278649 RCV002356512 RCV003950323
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 SubmittersRCV001712355 RCV002374621 RCV002480268
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 SubmittersRCV000443600 RCV002298588 RCV002418302 RCV002279199
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 SubmittersRCV001720029 RCV002244876 RCV002392966 RCV003959886
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 SubmittersRCV001270129 RCV002436321 RCV001861588
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 SubmittersRCV000727029 RCV000765314 RCV002279241 RCV002376872 RCV005239066
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 SubmittersRCV000485496 RCV000765315 RCV002063823 RCV002376888
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 SubmittersRCV000765316 RCV001531857 RCV002279246 RCV002420232 RCV005239068
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 SubmittersRCV000764086 RCV001851303 RCV002455944
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 SubmittersRCV000728426 RCV000764084 RCV002279267 RCV002395196 RCV003419830 RCV005407153
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 SubmittersRCV000765313 RCV000584880 RCV002279268 RCV002376906 RCV005418168
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 SubmittersRCV001707723 RCV003403240 RCV002490919 RCV005520296
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 SubmittersRCV001696926 RCV003403241 RCV002497030 RCV004023608
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 SubmittersRCV001722446 RCV002481728 RCV002376969
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 SubmittersRCV001722448 RCV003380598 RCV005398762
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 SubmittersRCV001731747 RCV002413413 RCV002497024
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 SubmittersRCV001697451 RCV002413708 RCV002279397 RCV002245044 RCV003915774
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 SubmittersRCV000603553 RCV001531245 RCV002279386 RCV002350440 RCV005392163
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 SubmittersRCV001697875 RCV002279411 RCV002377272 RCV005392171
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 SubmittersRCV000761946 RCV002332540 RCV005392356
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 SubmittersRCV000996370 RCV005394602 RCV002416278
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 SubmittersRCV000996379 RCV002454242 RCV002497303
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 SubmittersRCV001092204 RCV002429753 RCV005394734
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 SubmittersRCV001092209 RCV004751880 RCV005394735 RCV005408691 RCV002355109
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 SubmittersRCV001093034 RCV002375018 RCV005394737
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 SubmittersRCV001093037 RCV002436701 RCV002480459 RCV005236596
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 SubmittersRCV001200604 RCV004783909 RCV002339496
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 SubmittersRCV001330322 RCV001547495 RCV004601458
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 SubmittersRCV001333791 RCV001859315 RCV002276693 RCV002438764
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 SubmittersRCV001531856 RCV002276762 RCV002414252 RCV003224567 RCV003966152
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 SubmittersRCV001541215 RCV002329661 RCV002276766 RCV003224568
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 SubmittersRCV001837009 RCV001551269 RCV003161081
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 SubmittersRCV001562480 RCV002276792 RCV002440800 RCV002488380
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 SubmittersRCV001566385 RCV002458533 RCV005395077
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 SubmittersRCV002449369 RCV002276794 RCV001564808 RCV005014590
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 SubmittersRCV001565935 RCV002243305 RCV002324142 RCV001815038
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 SubmittersRCV001587516 RCV005429058 RCV004039470
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 SubmittersRCV001589558 RCV002386474 RCV002476890
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 SubmittersRCV001733541 RCV002370269
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 SubmittersRCV001754215 RCV002405286 RCV005396982
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 SubmittersRCV001764972 RCV002361018 RCV002488538
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 SubmittersRCV001844555 RCV002276906 RCV002422876 RCV005397037
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 SubmittersRCV001934401 RCV002370576 RCV005429073
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 SubmittersRCV001900151 RCV002334756 RCV002276917 RCV002506906
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 SubmittersRCV002019550 RCV002423219 RCV005017046
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 SubmittersRCV001902073 RCV002509711
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 SubmittersRCV002015641 RCV005397257 RCV005520658
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 SubmittersRCV002033329 RCV002489921 RCV004038797
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 SubmittersRCV002197467 RCV002277004 RCV005017113 RCV005406305
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 SubmittersRCV002211369 RCV002277043 RCV002391370 RCV003485768
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 SubmittersRCV003085026 RCV005399109 RCV004992506
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 SubmittersRCV003111786 RCV005399243 RCV004242042
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 SubmittersRCV002601000 RCV004527448
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 SubmittersRCV002975675 RCV003943662 RCV004068279 RCV005239569 RCV005399044
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 SubmittersRCV004089939 RCV005059212 RCV005399163
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 SubmittersRCV004605194 RCV005015210
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

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 SubmittersRCV000114771 RCV000513443 RCV000393765 RCV002277152 RCV002381414 RCV003945043 RCV005406825

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 SubmittersRCV000114774 RCV001854536 RCV002433602 RCV005394378 RCV004751264

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 SubmittersRCV000371799 RCV000114778 RCV000490000 RCV002426655 RCV003952544 RCV005055580

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 SubmittersRCV000114784 RCV000991180 RCV002243759 RCV001588923 RCV002354289 RCV003935092 RCV005406826

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 SubmittersRCV000114788 RCV001836730 RCV002371938 RCV003317091 RCV004791268

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 SubmittersRCV000114791 RCV000520139 RCV002483182 RCV005237544 RCV002381415

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 SubmittersRCV000114799 RCV001657701 RCV002277155 RCV002336248 RCV002477272

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 SubmittersRCV000114801 RCV000487653 RCV005520242 RCV005394379

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 SubmittersRCV000173217 RCV000389080 RCV002054041 RCV002277326 RCV002408750

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 SubmittersRCV000173218 RCV000512833 RCV000281876 RCV002426825 RCV002277327

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 SubmittersRCV000625422 RCV000724021 RCV002336417 RCV002277328

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 SubmittersRCV000175661 RCV002228785

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 SubmittersRCV000175664 RCV000355749 RCV002056941 RCV002381571 RCV002277361

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 SubmittersRCV000175665 RCV000764088 RCV002336426 RCV002277362

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 SubmittersRCV000298464 RCV000724940 RCV002278264 RCV002374452

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 SubmittersRCV000285836 RCV000335927 RCV000487900 RCV002278267 RCV002328759 RCV003939954

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 SubmittersRCV000272637 RCV000357499 RCV002278273 RCV002446519 RCV003939971 RCV005407012

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 SubmittersRCV000261382 RCV000725180 RCV002338829 RCV002278274 RCV005407013

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 SubmittersRCV000268027 RCV000764087 RCV002338843 RCV004751430

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 SubmittersRCV000325707 RCV000725898 RCV002450821 RCV002278300 RCV003909987 RCV005396891

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 SubmittersRCV000381105 RCV000585441 RCV002278326 RCV002402006 RCV003226277 RCV003920176

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 SubmittersRCV000280666 RCV000831805 RCV002450919

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 SubmittersRCV000340282 RCV001564858

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 SubmittersRCV000349563 RCV001574811 RCV002450920

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 SubmittersRCV000286582 RCV000892558 RCV000601791 RCV003298407

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 SubmittersRCV000341675 RCV000584978 RCV002278566 RCV003950225 RCV002402070 RCV005437992

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 SubmittersRCV000334286 RCV001548254 RCV002278571 RCV002348102 RCV004757216

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 SubmittersRCV000398886 RCV002450921 RCV002520200

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 SubmittersRCV000315336 RCV002278572 RCV003736739 RCV005407073

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 SubmittersRCV000399185 RCV003766005 RCV005462951

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 SubmittersRCV000319425 RCV001690064 RCV002278430 RCV002374540 RCV003957653

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 SubmittersRCV000322825 RCV001718667 RCV002365375

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 SubmittersRCV000291021 RCV002522893 RCV002374542

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 SubmittersRCV000358233 RCV001697666 RCV002278435 RCV002402036

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 SubmittersRCV000288362 RCV002402038 RCV002056514

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 SubmittersRCV000342671 RCV002522894 RCV002436169 RCV005407053

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 SubmittersRCV000367740 RCV003556331

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 SubmittersRCV000320091 RCV002321995 RCV004760480 RCV005407054

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 SubmittersRCV000327077 RCV001536923 RCV002278451 RCV002450882 RCV005238898

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 SubmittersRCV000352903 RCV000487611 RCV002365377

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 SubmittersRCV000585365 RCV000406466 RCV002278454 RCV002356433 RCV005238899 RCV003950091

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 SubmittersRCV000324218 RCV001697756 RCV002278455 RCV002328836

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 SubmittersRCV000325404 RCV001570952 RCV002328838 RCV003972371 RCV005407055

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 SubmittersRCV000295026 RCV001577672 RCV002328841

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 SubmittersRCV000344001 RCV002056528 RCV003298379

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 SubmittersRCV000349899 RCV001569528 RCV002374545

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 SubmittersRCV000359081 RCV000512905 RCV002278467 RCV002392875 RCV003940261

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 SubmittersRCV000304531 RCV001712037 RCV002278472 RCV003972372 RCV002411216 RCV005238904

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 SubmittersRCV000308943 RCV001837823 RCV002379202 RCV003957655

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 SubmittersRCV000365992 RCV000512718 RCV002278478 RCV002379203

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 SubmittersRCV000298532 RCV000604161 RCV001850713 RCV002379205

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 SubmittersRCV000263311 RCV000996376 RCV000602561 RCV002278480 RCV002379206

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 SubmittersRCV000393704 RCV002446581 RCV003765864

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 SubmittersRCV000393691 RCV001515256 RCV002278483 RCV002429278 RCV003910221

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 SubmittersRCV000268070 RCV000996380 RCV002278486 RCV002356442

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 SubmittersRCV000279078 RCV001590953

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 SubmittersRCV000369675 RCV001531241 RCV003969908 RCV002429271 RCV005238892

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 SubmittersRCV000403705 RCV000761943 RCV002379197

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 SubmittersRCV000311608 RCV000497526 RCV002392870 RCV002278429 RCV003920363

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 SubmittersRCV000343682 RCV000604405 RCV002278433 RCV002374543

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 SubmittersRCV000292403 RCV002411211 RCV003765858

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 SubmittersRCV000373781 RCV001580076 RCV002278437 RCV002411213 RCV003920365

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 SubmittersRCV000364914 RCV001580482 RCV002278440 RCV002418178

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 SubmittersRCV000385961 RCV003678990 RCV005298480

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 SubmittersRCV000377433 RCV003765860

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 SubmittersRCV000380148 RCV001697755 RCV002450881

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 SubmittersRCV000346780 RCV001531243 RCV002450883 RCV002278452 RCV005431611

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 SubmittersRCV000327483 RCV002056523 RCV002338911

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 SubmittersRCV000388630 RCV000416177 RCV002278459 RCV002338912 RCV005407056

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 SubmittersRCV000375933 RCV000513538 RCV002348062 RCV002278460

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 SubmittersRCV000367707 RCV001697744 RCV002356439

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 SubmittersRCV000275844 RCV002356440 RCV001718671

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 SubmittersRCV000262769 RCV002365379 RCV003765861

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 SubmittersRCV000384522 RCV000428390 RCV001531246 RCV002278466 RCV002365384 RCV003922358

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 SubmittersRCV000393482 RCV001572363 RCV002374546 RCV005238900

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 SubmittersRCV000301825 RCV001590952 RCV002379201

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 SubmittersRCV000384416 RCV001697819 RCV002418179

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 SubmittersRCV000292404 RCV001311084 RCV004021682 RCV005055879

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 SubmittersRCV000286492 RCV001718672 RCV002278476 RCV002374549

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 SubmittersRCV000314671 RCV000584866 RCV002278482 RCV002429277 RCV005437990

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 SubmittersRCV000357348 RCV000996378 RCV002323527 RCV002278485 RCV003226279 RCV002508931 RCV003969910

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 SubmittersRCV000261936 RCV002348059

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 SubmittersRCV000260593 RCV002278431 RCV001574733 RCV002356431 RCV003920364 RCV005238893

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 SubmittersRCV000282947 RCV000761944 RCV002278432 RCV002379198 RCV004751459

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 SubmittersRCV000383007 RCV002056511 RCV002446572

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 SubmittersRCV000266161 RCV000487545 RCV002278436 RCV002392874 RCV003972370 RCV005238894

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 SubmittersRCV000403019 RCV000418434 RCV001712036 RCV002418176

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 SubmittersRCV000266288 RCV000603861 RCV002278450 RCV002446573 RCV005238897

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 SubmittersRCV000320869 RCV002323524 RCV001850708

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 SubmittersRCV000407223 RCV000488254 RCV004021680

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 SubmittersRCV000362377 RCV001171782 RCV003910219 RCV002338909

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 SubmittersRCV000281453 RCV001718669 RCV002278461 RCV002348063 RCV005431612

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 SubmittersRCV000287391 RCV001560497 RCV002348066

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 SubmittersRCV000377440 RCV004601157

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 SubmittersRCV000378729 RCV002365383 RCV003765862

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 SubmittersRCV000352275 RCV001092211 RCV002365386

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 SubmittersRCV000269888 RCV002056530 RCV002402041 RCV005238903

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 SubmittersRCV000282615 RCV000658754 RCV002429275 RCV005431613

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 SubmittersRCV000406152 RCV001712038 RCV002278473 RCV002446574

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 SubmittersRCV000365409 RCV001560800 RCV003910220 RCV002446575

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 SubmittersRCV000282944 RCV001697758

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 SubmittersRCV000340333 RCV002056534 RCV002446580

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 SubmittersRCV000343909 RCV001171785 RCV002278477 RCV002374550 RCV004701409 RCV004751462

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 SubmittersRCV000369723 RCV002374552 RCV002521074

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 SubmittersRCV000277485 RCV001705479 RCV002379204 RCV002278479 RCV003969909

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 SubmittersRCV000377552 RCV001565582 RCV002379208

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 SubmittersRCV000266643 RCV001578254 RCV002402042 RCV005418077

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 SubmittersRCV000295437 RCV002402034 RCV004791409

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 SubmittersRCV000405817 RCV000487882 RCV002278434 RCV002392871

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 SubmittersRCV000328233 RCV002056513 RCV002402037

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 SubmittersRCV000281635 RCV002411214 RCV003765859

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 SubmittersRCV000317204 RCV001843510 RCV002450880 RCV005238896

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 SubmittersRCV000404639 RCV001512572 RCV002278448 RCV002436172 RCV003940260

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 SubmittersRCV000277875 RCV001726113 RCV002436174

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 SubmittersRCV000298267 RCV001552761 RCV002365376

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 SubmittersRCV000358831 RCV001579875 RCV002323525

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 SubmittersRCV000264321 RCV001568572 RCV002328835

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 SubmittersRCV000407280 RCV001718668 RCV002328842 RCV003957654 RCV004586684

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 SubmittersRCV000301912 RCV001850709 RCV002338906 RCV004751460

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 SubmittersRCV000402900 RCV002521071 RCV005520271 RCV005418076

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 SubmittersRCV000307640 RCV001859905 RCV002338908 RCV003922357

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 SubmittersRCV000273548 RCV001092208 RCV002348061

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 SubmittersRCV000334066 RCV003298378 RCV005055878

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 SubmittersRCV000342335 RCV001718670 RCV002356434

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 SubmittersRCV000392034 RCV001538269 RCV002356435 RCV002278463 RCV004751461

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 SubmittersRCV000313082 RCV002056525 RCV002356438

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 SubmittersRCV000355674 RCV002522897 RCV002379199 RCV005238901

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 SubmittersRCV000266726 RCV000434544 RCV002392876 RCV002278468 RCV005238902

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 SubmittersRCV000339950 RCV001582960 RCV002429276 RCV005431614

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 SubmittersRCV000406769 RCV000609860 RCV002278471 RCV002436175

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 SubmittersRCV000368805 RCV001582961 RCV003380549

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 SubmittersRCV000334120 RCV002446578 RCV002521072

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 SubmittersRCV000371584 RCV002446579 RCV003765863

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 SubmittersRCV000279317 RCV001705478 RCV002374547 RCV002278474

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 SubmittersRCV000392036 RCV002374551 RCV002521073

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 SubmittersRCV000320795 RCV000488947 RCV002056535 RCV002379207 RCV003957656

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 SubmittersRCV000345986 RCV002411218 RCV003546521

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 SubmittersRCV000303424 RCV001770259 RCV002450884

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 SubmittersRCV000360452 RCV002450885

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 SubmittersRCV000488174 RCV003137993 RCV005431649 RCV003902458 RCV002402101 RCV002278643

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 SubmittersRCV000413617 RCV000764089 RCV002058871 RCV002278649 RCV002356512 RCV003950323

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 SubmittersRCV001712355 RCV002374621 RCV002480268

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 SubmittersRCV000443600 RCV002298588 RCV002418302 RCV002279199

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 SubmittersRCV001720029 RCV002244876 RCV002392966 RCV003959886

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 SubmittersRCV001270129 RCV002436321 RCV001861588

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 SubmittersRCV000727029 RCV000765314 RCV002279241 RCV002376872 RCV005239066

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 SubmittersRCV000485496 RCV000765315 RCV002063823 RCV002376888

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 SubmittersRCV000765316 RCV001531857 RCV002279246 RCV002420232 RCV005239068

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 SubmittersRCV000764086 RCV001851303 RCV002455944

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 SubmittersRCV000728426 RCV000764084 RCV002279267 RCV002395196 RCV003419830 RCV005407153

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 SubmittersRCV000765313 RCV000584880 RCV002279268 RCV002376906 RCV005418168

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 SubmittersRCV001707723 RCV003403240 RCV002490919 RCV005520296

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 SubmittersRCV001696926 RCV003403241 RCV002497030 RCV004023608

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 SubmittersRCV001722446 RCV002481728 RCV002376969

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 SubmittersRCV001722448 RCV003380598 RCV005398762

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 SubmittersRCV001731747 RCV002413413 RCV002497024

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 SubmittersRCV001697451 RCV002413708 RCV002279397 RCV002245044 RCV003915774

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 SubmittersRCV000603553 RCV001531245 RCV002279386 RCV002350440 RCV005392163

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 SubmittersRCV001697875 RCV002279411 RCV002377272 RCV005392171

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 SubmittersRCV000761946 RCV002332540 RCV005392356

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 SubmittersRCV000996370 RCV005394602 RCV002416278

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 SubmittersRCV000996379 RCV002454242 RCV002497303

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 SubmittersRCV001092204 RCV002429753 RCV005394734

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 SubmittersRCV001092209 RCV004751880 RCV005394735 RCV005408691 RCV002355109

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 SubmittersRCV001093034 RCV002375018 RCV005394737

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 SubmittersRCV001093037 RCV002436701 RCV002480459 RCV005236596

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 SubmittersRCV001200604 RCV004783909 RCV002339496

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 SubmittersRCV001330322 RCV001547495 RCV004601458

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 SubmittersRCV001333791 RCV001859315 RCV002276693 RCV002438764

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 SubmittersRCV001531856 RCV002276762 RCV002414252 RCV003224567 RCV003966152

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 SubmittersRCV001541215 RCV002329661 RCV002276766 RCV003224568

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 SubmittersRCV001837009 RCV001551269 RCV003161081

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 SubmittersRCV001562480 RCV002276792 RCV002440800 RCV002488380

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 SubmittersRCV001566385 RCV002458533 RCV005395077

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 SubmittersRCV002449369 RCV002276794 RCV001564808 RCV005014590

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 SubmittersRCV001565935 RCV002243305 RCV002324142 RCV001815038

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 SubmittersRCV001587516 RCV005429058 RCV004039470

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 SubmittersRCV001589558 RCV002386474 RCV002476890

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 SubmittersRCV001733541 RCV002370269

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 SubmittersRCV001754215 RCV002405286 RCV005396982

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 SubmittersRCV001764972 RCV002361018 RCV002488538

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 SubmittersRCV001844555 RCV002276906 RCV002422876 RCV005397037

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 SubmittersRCV001934401 RCV002370576 RCV005429073

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 SubmittersRCV001900151 RCV002334756 RCV002276917 RCV002506906

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 SubmittersRCV002019550 RCV002423219 RCV005017046

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 SubmittersRCV001902073 RCV002509711

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 SubmittersRCV002015641 RCV005397257 RCV005520658

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 SubmittersRCV002033329 RCV002489921 RCV004038797

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 SubmittersRCV002197467 RCV002277004 RCV005017113 RCV005406305

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 SubmittersRCV002211369 RCV002277043 RCV002391370 RCV003485768

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 SubmittersRCV003085026 RCV005399109 RCV004992506

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 SubmittersRCV003111786 RCV005399243 RCV004242042

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 SubmittersRCV002601000 RCV004527448

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 SubmittersRCV002975675 RCV003943662 RCV004068279 RCV005239569 RCV005399044

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 SubmittersRCV004089939 RCV005059212 RCV005399163

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 SubmittersRCV004605194 RCV005015210

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