Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_001367624.2(ZNF469):c.10100G>A (p.Cys3367Tyr)	SNV Germline	Chr16:88437570	Pathogenic	Brittle cornea syndrome 1	No Assertion Criteria Provided	CA129556	rs_387907062	1 SubmittersRCV000023931
NM_001367624.2(ZNF469):c.4258G>T (p.Glu1420Ter)	SNV Germline	Chr16:88431728	Pathogenic	Brittle cornea syndrome 1	No Assertion Criteria Provided	CA129558	rs_387907063	1 SubmittersRCV000023932
NM_001367624.2(ZNF469):c.11185G>A (p.Gly3729Ser)	SNV Germline	Chr16:88438655	Conflicting classifications of pathogenicity	Keratoconus 1 Condition: not provided Cardiovascular phenotype ZNF469-related disorder Brittle cornea syndrome 1 not specified	Criteria Provided Conflicting Classifications	CA151275	rs_273585629	8 SubmittersRCV000114774 RCV001854536 RCV002433602 RCV004751264 RCV005394378 RCV006456710
NM_001367624.2(ZNF469):c.2699C>T (p.Pro900Leu)	SNV Germline	Chr16:88430169	Conflicting classifications of pathogenicity	Keratoconus 1 Brittle cornea syndrome 1 Condition: not provided Cardiovascular phenotype ZNF469-related disorder not specified	Criteria Provided Conflicting Classifications	CA151283	rs_273585618	9 SubmittersRCV000114778 RCV000371799 RCV000490000 RCV002426655 RCV003952544 RCV005055580
NM_001367624.2(ZNF469):c.6179C>A (p.Ser2060Tyr)	SNV Germline	Chr16:88433649	Conflicting classifications of pathogenicity	Keratoconus 1 Keratoconus Condition: not provided Brittle cornea syndrome 1 Cardiovascular phenotype ZNF469-related disorder not specified	Criteria Provided Conflicting Classifications	CA151295	rs_273585623	11 SubmittersRCV000114784 RCV000991180 RCV001588923 RCV002243759 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 Cardiovascular phenotype Brittle cornea syndrome 1 not specified	Criteria Provided Conflicting Classifications	CA151309	rs_273585627	8 SubmittersRCV000114791 RCV000520139 RCV002381415 RCV002483182 RCV005237544
NM_001367624.2(ZNF469):c.5144G>A (p.Arg1715Lys)	SNV Germline	Chr16:88432614	Conflicting classifications of pathogenicity	Keratoconus 1 Condition: not provided Ehlers-Danlos syndrome Cardiovascular phenotype Brittle cornea syndrome 1 not specified	Criteria Provided Conflicting Classifications	CA151325	rs_281865149	7 SubmittersRCV000114799 RCV001657701 RCV002277155 RCV002336248 RCV002477272 RCV006451941
NM_001367624.2(ZNF469):c.7831G>A (p.Glu2611Lys)	SNV Germline	Chr16:88435301	Conflicting classifications of pathogenicity	Keratoconus 1 Condition: not provided Brittle cornea syndrome 1 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA151329	rs_281865151	6 SubmittersRCV000114801 RCV000487653 RCV005394379 RCV005520242
NM_001367624.2(ZNF469):c.2717C>T (p.Pro906Leu)	SNV Germline	Chr16:88430187	Conflicting classifications of pathogenicity	not specified Brittle cornea syndrome 1 Condition: not provided Ehlers-Danlos syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA238680	rs_77951481	10 SubmittersRCV000173218 RCV000281876 RCV000512833 RCV002277327 RCV002426825
NM_001367624.2(ZNF469):c.457C>G (p.Pro153Ala)	SNV Germline	Chr16:88427927	Conflicting classifications of pathogenicity	Brittle cornea syndrome 1 Condition: not provided Ehlers-Danlos syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA238682	rs_532620482	8 SubmittersRCV000625422 RCV000724021 RCV002277328 RCV002336417
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.4952A>G (p.Gln1651Arg)	SNV Germline	Chr16:88432422	Conflicting classifications of pathogenicity	Condition: not provided Brittle cornea syndrome 1 Ehlers-Danlos syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA241396	rs_773925755	7 SubmittersRCV000175665 RCV000764088 RCV002277362 RCV002336426
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 Cardiovascular phenotype Ehlers-Danlos syndrome ZNF469-related disorder not specified	Criteria Provided Conflicting Classifications	CA8224757	rs_753664726	12 SubmittersRCV000272637 RCV000357499 RCV002446519 RCV002278273 RCV003939971 RCV005407012
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 Ehlers-Danlos syndrome ZNF469-related disorder Cardiovascular phenotype Brittle cornea syndrome 1	Criteria Provided Conflicting Classifications	CA8224758	rs_144492145	12 SubmittersRCV000325707 RCV000725898 RCV002278300 RCV003909987 RCV002450821 RCV005396891
NM_001367624.2(ZNF469):c.10700G>A (p.Gly3567Glu)	SNV Germline	Chr16:88438170	Conflicting classifications of pathogenicity	not specified Ehlers-Danlos syndrome Cardiovascular phenotype Brittle cornea syndrome 1 Condition: not provided ZNF469-related disorder	Criteria Provided Conflicting Classifications	CA8225541	rs_199610834	10 SubmittersRCV003226277 RCV002278326 RCV002402006 RCV000381105 RCV000585441 RCV003920176
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.4456G>A (p.Asp1486Asn)	SNV Germline	Chr16:88431926	Conflicting classifications of pathogenicity	Brittle cornea syndrome 1 Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA8224962	rs_373777402	5 SubmittersRCV000295026 RCV001577672 RCV002328841
NM_001367624.2(ZNF469):c.7553C>A (p.Pro2518His)	SNV Germline	Chr16:88435023	Conflicting classifications of pathogenicity	Brittle cornea syndrome 1 Condition: not provided Cardiovascular phenotype Ehlers-Danlos syndrome ZNF469-related disorder not specified	Criteria Provided Conflicting Classifications	CA8225262	rs_201943633	8 SubmittersRCV000359081 RCV000512905 RCV002392875 RCV002278467 RCV003940261 RCV006441830
NM_001367624.2(ZNF469):c.8503G>C (p.Glu2835Gln)	SNV Germline	Chr16:88435973	Conflicting classifications of pathogenicity	Brittle cornea syndrome 1 Condition: not provided Ehlers-Danlos syndrome Cardiovascular phenotype ZNF469-related disorder not specified	Criteria Provided Conflicting Classifications	CA8225342	rs_200153921	10 SubmittersRCV000304531 RCV001712037 RCV002278472 RCV002411216 RCV003972372 RCV005238904
NM_001367624.2(ZNF469):c.2132C>G (p.Pro711Arg)	SNV Germline	Chr16:88429602	Conflicting classifications of pathogenicity	Brittle cornea syndrome 1 Condition: not provided Ehlers-Danlos syndrome Cardiovascular phenotype not specified	Criteria Provided Conflicting Classifications	CA8224748	rs_571184307	7 SubmittersRCV000364914 RCV001580482 RCV002278440 RCV002418178 RCV006268732
NM_001367624.2(ZNF469):c.5162G>T (p.Cys1721Phe)	SNV Germline	Chr16:88432632	Conflicting classifications of pathogenicity	Condition: not provided Brittle cornea syndrome 1 Ehlers-Danlos syndrome Cardiovascular phenotype not specified	Criteria Provided Conflicting Classifications	CA8225051	rs_568197988	8 SubmittersRCV000416177 RCV000388630 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 Ehlers-Danlos syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA8225087	rs_199932922	8 SubmittersRCV000375933 RCV000513538 RCV002278460 RCV002348062
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.11425G>A (p.Glu3809Lys)	SNV Germline	Chr16:88438895	Conflicting classifications of pathogenicity	Brittle cornea syndrome 1 Condition: not provided Ehlers-Danlos syndrome Cardiovascular phenotype Brittle cornea syndrome ZNF469-related disorder not specified	Criteria Provided Conflicting Classifications	CA8225610	rs_201834513	11 SubmittersRCV000357348 RCV000996378 RCV002278485 RCV002323527 RCV002508931 RCV003969910 RCV003226279
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.3321G>A (p.Arg1107=)	SNV Germline	Chr16:88430791	Conflicting classifications of pathogenicity	Brittle cornea syndrome 1 Condition: not provided Cardiovascular phenotype Ehlers-Danlos syndrome not specified	Criteria Provided Conflicting Classifications	CA8224843	rs_763826959	9 SubmittersRCV000266288 RCV000603861 RCV002446573 RCV002278450 RCV005238897
NM_001367624.2(ZNF469):c.7195C>T (p.Pro2399Ser)	SNV Germline	Chr16:88434665	Conflicting classifications of pathogenicity	Brittle cornea syndrome 1 Condition: not provided Cardiovascular phenotype not specified	Criteria Provided Conflicting Classifications	CA10648288	rs_759032227	7 SubmittersRCV000352275 RCV001092211 RCV002365386 RCV005894553
NM_001367624.2(ZNF469):c.7817A>C (p.Gln2606Pro)	SNV Germline	Chr16:88435287	Conflicting classifications of pathogenicity	Brittle cornea syndrome 1 Condition: not provided Cardiovascular phenotype not specified	Criteria Provided Conflicting Classifications	CA10648295	rs_529250336	4 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.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.2693C>T (p.Pro898Leu)	SNV Germline	Chr16:88430163	Conflicting classifications of pathogenicity	Brittle cornea syndrome 1 Cardiovascular phenotype Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA8224793	rs_754458926	6 SubmittersRCV000317204 RCV002450880 RCV001843510 RCV005238896
NM_001367624.2(ZNF469):c.8387C>G (p.Pro2796Arg)	SNV Germline	Chr16:88435857	Conflicting classifications of pathogenicity	Brittle cornea syndrome 1 Condition: not provided Cardiovascular phenotype not specified	Criteria Provided Conflicting Classifications	CA10649195	rs_886052412	6 SubmittersRCV000339950 RCV001582960 RCV002429276 RCV005431614
NM_001367624.2(ZNF469):c.10330G>C (p.Gly3444Arg)	SNV Germline	Chr16:88437800	Conflicting classifications of pathogenicity	Brittle cornea syndrome 1 not specified Condition: not provided Cardiovascular phenotype ZNF469-related disorder	Criteria Provided Conflicting Classifications	CA8225502	rs_569602115	6 SubmittersRCV000320795 RCV000488947 RCV002056535 RCV002379207 RCV003957656
NM_001367624.2(ZNF469):c.1609G>A (p.Val537Met)	SNV Germline	Chr16:88429079	Conflicting classifications of pathogenicity	Condition: not provided Ehlers-Danlos syndrome Cardiovascular phenotype Brittle cornea syndrome 1 ZNF469-related disorder not specified	Criteria Provided Conflicting Classifications	CA8224690	rs_184458982	12 SubmittersRCV000488174 RCV002278643 RCV002402101 RCV003137993 RCV003902458 RCV005431649
NM_001367624.2(ZNF469):c.5914G>A (p.Gly1972Arg)	SNV Germline	Chr16:88433384	Conflicting classifications of pathogenicity	not specified Brittle cornea syndrome 1 Cardiovascular phenotype Condition: not provided Ehlers-Danlos syndrome ZNF469-related disorder	Criteria Provided Conflicting Classifications	CA8225115	rs_766410344	9 SubmittersRCV000413617 RCV000764089 RCV002356512 RCV002058871 RCV002278649 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 not specified	Criteria Provided Conflicting Classifications	CA8225405	rs_376513000	5 SubmittersRCV001712355 RCV002374621 RCV002480268 RCV006452624
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 not specified	Criteria Provided Conflicting Classifications	CA8224622	rs_540655479	8 SubmittersRCV001720029 RCV002244876 RCV002392966 RCV003959886 RCV006268766
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	11 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	5 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 Cardiovascular phenotype Ehlers-Danlos syndrome not specified	Criteria Provided Conflicting Classifications	CA8225560	rs_200668806	11 SubmittersRCV000765316 RCV001531857 RCV002420232 RCV002279246 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 not specified	Criteria Provided Conflicting Classifications	CA8224854	rs_755348435	6 SubmittersRCV000764086 RCV001851303 RCV002455944 RCV006452682
NM_001367624.2(ZNF469):c.1483C>T (p.Pro495Ser)	SNV Germline	Chr16:88428953	Conflicting classifications of pathogenicity	Brittle cornea syndrome 1 Condition: not provided Cardiovascular phenotype Ehlers-Danlos syndrome ZNF469-related disorder not specified	Criteria Provided Conflicting Classifications	CA8224678	rs_202205643	13 SubmittersRCV000764084 RCV000728426 RCV002395196 RCV002279267 RCV003419830 RCV005407153
NM_001367624.2(ZNF469):c.8705C>T (p.Thr2902Met)	SNV Germline	Chr16:88436175	Conflicting classifications of pathogenicity	Condition: not provided Brittle cornea syndrome 1 Ehlers-Danlos syndrome Cardiovascular phenotype not specified	Criteria Provided Conflicting Classifications	CA8225361	rs_536725615	8 SubmittersRCV000584880 RCV000765313 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 not specified	Criteria Provided Conflicting Classifications	CA286371735	rs_896312288	6 SubmittersRCV001707723 RCV003403240 RCV002490919 RCV005520296 RCV006458468
NM_001367624.2(ZNF469):c.8599G>A (p.Gly2867Ser)	SNV Germline	Chr16:88436069	Conflicting classifications of pathogenicity	Condition: not provided Brittle cornea syndrome 1 Cardiovascular phenotype ZNF469-related disorder not specified	Criteria Provided Conflicting Classifications	CA286384276	rs_745468033	6 SubmittersRCV001696926 RCV002497030 RCV004023608 RCV003403241 RCV006458469
NM_001367624.2(ZNF469):c.9316C>T (p.Arg3106Trp)	SNV Germline	Chr16:88436786	Conflicting classifications of pathogenicity	Condition: not provided Cardiovascular phenotype Brittle cornea syndrome 1	Criteria Provided Conflicting Classifications	CA397121818	rs_1292941352	4 SubmittersRCV001722446 RCV002376969 RCV002481728
NM_001367624.2(ZNF469):c.10328G>A (p.Gly3443Glu)	SNV Germline	Chr16:88437798	Conflicting classifications of pathogenicity	Condition: not provided Cardiovascular phenotype Brittle cornea syndrome 1 not specified	Criteria Provided Conflicting Classifications	CA8225498	rs_140056980	6 SubmittersRCV001722448 RCV003380598 RCV005398762 RCV006438179
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 Ehlers-Danlos syndrome Brittle cornea syndrome 1 Cardiovascular phenotype ZNF469-related disorder	Criteria Provided Conflicting Classifications	CA8225304	rs_558108271	7 SubmittersRCV001697451 RCV002279397 RCV002245044 RCV002413708 RCV003915774
NM_001367624.2(ZNF469):c.5006C>T (p.Ala1669Val)	SNV Germline	Chr16:88432476	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Ehlers-Danlos syndrome Brittle cornea syndrome 1	Criteria Provided Conflicting Classifications	CA8225034	rs_200070902	10 SubmittersRCV000603553 RCV001531245 RCV002350440 RCV002279386 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 not specified	Criteria Provided Conflicting Classifications	CA8225495	rs_56236932	8 SubmittersRCV001697875 RCV002279411 RCV002377272 RCV005392171 RCV006438466
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 Cardiovascular phenotype Brittle cornea syndrome 1	Criteria Provided Conflicting Classifications	CA286383625	rs_930146121	3 SubmittersRCV000996370 RCV002416278 RCV005394602
NM_001367624.2(ZNF469):c.11545C>T (p.Arg3849Trp)	SNV Germline	Chr16:88439015	Conflicting classifications of pathogenicity	Condition: not provided Cardiovascular phenotype Brittle cornea syndrome 1 not specified	Criteria Provided Conflicting Classifications	CA8225619	rs_770109867	6 SubmittersRCV000996379 RCV002454242 RCV002497303 RCV006453506
NM_001367624.2(ZNF469):c.216G>T (p.Glu72Asp)	SNV Germline	Chr16:88427686	Conflicting classifications of pathogenicity	Condition: not provided Cardiovascular phenotype Brittle cornea syndrome 1 not specified	Criteria Provided Conflicting Classifications	CA8224576	rs_543285355	6 SubmittersRCV001092204 RCV002429753 RCV005394734 RCV006446020
NM_001367624.2(ZNF469):c.5915G>T (p.Gly1972Val)	SNV Germline	Chr16:88433385	Conflicting classifications of pathogenicity	Condition: not provided Cardiovascular phenotype ZNF469-related disorder Brittle cornea syndrome 1 not specified	Criteria Provided Conflicting Classifications	CA286381028	rs_573931575	8 SubmittersRCV001092209 RCV002355109 RCV004751880 RCV005394735 RCV005408691
NM_001367624.2(ZNF469):c.8931C>G (p.His2977Gln)	SNV Germline	Chr16:88436401	Conflicting classifications of pathogenicity	Condition: not provided Cardiovascular phenotype Brittle cornea syndrome 1	Criteria Provided Conflicting Classifications	CA8225387	rs_758398877	5 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 Cardiovascular phenotype Brittle cornea syndrome 1 not specified	Criteria Provided Conflicting Classifications	CA286377313	rs_528985816	8 SubmittersRCV001200604 RCV002339496 RCV004783909 RCV006453572
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	Condition: not provided Brittle cornea syndrome 1 Cardiovascular phenotype not specified	Criteria Provided Conflicting Classifications	CA8225213	rs_533944505	6 SubmittersRCV001551269 RCV001837009 RCV003161081 RCV006457402
NM_001367624.2(ZNF469):c.8458G>A (p.Gly2820Ser)	SNV Germline	Chr16:88435928	Conflicting classifications of pathogenicity	Brittle cornea syndrome 1 Condition: not provided not specified Cardiovascular phenotype Ehlers-Danlos syndrome	Criteria Provided Conflicting Classifications	CA8225337	rs_761603858	7 SubmittersRCV002488380 RCV001562480 RCV006457414 RCV002440800 RCV002276792
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	Condition: not provided Ehlers-Danlos syndrome Cardiovascular phenotype Brittle cornea syndrome 1 not specified	Criteria Provided Conflicting Classifications	CA8225344	rs_751901105	6 SubmittersRCV001564808 RCV002276794 RCV002449369 RCV005014590 RCV006266862
NM_001367624.2(ZNF469):c.10199C>T (p.Pro3400Leu)	SNV Germline	Chr16:88437669	Conflicting classifications of pathogenicity	Condition: not provided not specified Brittle cornea syndrome 1 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA8225481	rs_281165933	6 SubmittersRCV001565935 RCV001815038 RCV002243305 RCV002324142
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.266A>G (p.Lys89Arg)	SNV Germline	Chr16:88427736	Conflicting classifications of pathogenicity	Condition: not provided Brittle cornea syndrome 1 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA286371466	rs_1022368248	4 SubmittersRCV001592300 RCV005865513 RCV004995963
NM_001367624.2(ZNF469):c.7340G>C (p.Arg2447Thr)	SNV Germline	Chr16:88434810	Conflicting classifications of pathogenicity	Brittle cornea syndrome 1 Cardiovascular phenotype not specified	Criteria Provided Conflicting Classifications	CA8225237	rs_558035857	3 SubmittersRCV001733541 RCV002370269 RCV006453737
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	5 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 not specified	Criteria Provided Conflicting Classifications	CA8225031	rs_554985503	7 SubmittersRCV001900151 RCV002334756 RCV002276917 RCV002506906 RCV006453770
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.2617C>A (p.Pro873Thr)	SNV Germline	Chr16:88430087	Conflicting classifications of pathogenicity	Condition: not provided not specified Brittle cornea syndrome 1	Criteria Provided Conflicting Classifications	CA397073968	rs_1237408873	3 SubmittersRCV002012874 RCV005433116 RCV005864616
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 not specified	Criteria Provided Conflicting Classifications	CA286374249	rs_1037451392	4 SubmittersRCV002015641 RCV005397257 RCV005520658 RCV006458872
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 not specified Brittle cornea syndrome 1	Criteria Provided Conflicting Classifications	CA8224745	rs_188954563	6 SubmittersRCV002197467 RCV002277004 RCV005406305 RCV005017113
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 Brittle cornea syndrome 1 not specified	Criteria Provided Conflicting Classifications	CA8224895	rs_183126539	5 SubmittersRCV002975675 RCV003943662 RCV004068279 RCV005399044 RCV005239569
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.11185G>A (p.Gly3729Ser)

SNV
Germline

Chr16:88438655

Conflicting classifications of pathogenicity

Keratoconus 1
Condition: not provided
Cardiovascular phenotype
ZNF469-related disorder
Brittle cornea syndrome 1
not specified

Criteria Provided
Conflicting Classifications

CA151275

rs_273585629

8 SubmittersRCV000114774 RCV001854536 RCV002433602 RCV004751264 RCV005394378 RCV006456710

NM_001367624.2(ZNF469):c.2699C>T (p.Pro900Leu)

SNV
Germline

Chr16:88430169

Conflicting classifications of pathogenicity

Keratoconus 1
Brittle cornea syndrome 1
Condition: not provided
Cardiovascular phenotype
ZNF469-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA151283

rs_273585618

9 SubmittersRCV000114778 RCV000371799 RCV000490000 RCV002426655 RCV003952544 RCV005055580

NM_001367624.2(ZNF469):c.6179C>A (p.Ser2060Tyr)

SNV
Germline

Chr16:88433649

Conflicting classifications of pathogenicity

Keratoconus 1
Keratoconus
Condition: not provided
Brittle cornea syndrome 1
Cardiovascular phenotype
ZNF469-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA151295

rs_273585623

11 SubmittersRCV000114784 RCV000991180 RCV001588923 RCV002243759 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
Cardiovascular phenotype
Brittle cornea syndrome 1
not specified

Criteria Provided
Conflicting Classifications

CA151309

rs_273585627

8 SubmittersRCV000114791 RCV000520139 RCV002381415 RCV002483182 RCV005237544

NM_001367624.2(ZNF469):c.5144G>A (p.Arg1715Lys)

SNV
Germline

Chr16:88432614

Conflicting classifications of pathogenicity

Keratoconus 1
Condition: not provided
Ehlers-Danlos syndrome
Cardiovascular phenotype
Brittle cornea syndrome 1
not specified

Criteria Provided
Conflicting Classifications

CA151325

rs_281865149

7 SubmittersRCV000114799 RCV001657701 RCV002277155 RCV002336248 RCV002477272 RCV006451941

NM_001367624.2(ZNF469):c.7831G>A (p.Glu2611Lys)

SNV
Germline

Chr16:88435301

Conflicting classifications of pathogenicity

Keratoconus 1
Condition: not provided
Brittle cornea syndrome 1
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA151329

rs_281865151

6 SubmittersRCV000114801 RCV000487653 RCV005394379 RCV005520242

NM_001367624.2(ZNF469):c.2717C>T (p.Pro906Leu)

SNV
Germline

Chr16:88430187

Conflicting classifications of pathogenicity

not specified
Brittle cornea syndrome 1
Condition: not provided
Ehlers-Danlos syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA238680

rs_77951481

10 SubmittersRCV000173218 RCV000281876 RCV000512833 RCV002277327 RCV002426825

NM_001367624.2(ZNF469):c.457C>G (p.Pro153Ala)

SNV
Germline

Chr16:88427927

Conflicting classifications of pathogenicity

Brittle cornea syndrome 1
Condition: not provided
Ehlers-Danlos syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA238682

rs_532620482

8 SubmittersRCV000625422 RCV000724021 RCV002277328 RCV002336417

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.4952A>G (p.Gln1651Arg)

SNV
Germline

Chr16:88432422

Conflicting classifications of pathogenicity

Condition: not provided
Brittle cornea syndrome 1
Ehlers-Danlos syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA241396

rs_773925755

7 SubmittersRCV000175665 RCV000764088 RCV002277362 RCV002336426

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
Cardiovascular phenotype
Ehlers-Danlos syndrome
ZNF469-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA8224757

rs_753664726

12 SubmittersRCV000272637 RCV000357499 RCV002446519 RCV002278273 RCV003939971 RCV005407012

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
Ehlers-Danlos syndrome
ZNF469-related disorder
Cardiovascular phenotype
Brittle cornea syndrome 1

Criteria Provided
Conflicting Classifications

CA8224758

rs_144492145

12 SubmittersRCV000325707 RCV000725898 RCV002278300 RCV003909987 RCV002450821 RCV005396891

NM_001367624.2(ZNF469):c.10700G>A (p.Gly3567Glu)

SNV
Germline

Chr16:88438170

Conflicting classifications of pathogenicity

not specified
Ehlers-Danlos syndrome
Cardiovascular phenotype
Brittle cornea syndrome 1
Condition: not provided
ZNF469-related disorder

Criteria Provided
Conflicting Classifications

CA8225541

rs_199610834

10 SubmittersRCV003226277 RCV002278326 RCV002402006 RCV000381105 RCV000585441 RCV003920176

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.4456G>A (p.Asp1486Asn)

SNV
Germline

Chr16:88431926

Conflicting classifications of pathogenicity

Brittle cornea syndrome 1
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA8224962

rs_373777402

5 SubmittersRCV000295026 RCV001577672 RCV002328841

NM_001367624.2(ZNF469):c.7553C>A (p.Pro2518His)

SNV
Germline

Chr16:88435023

Conflicting classifications of pathogenicity

Brittle cornea syndrome 1
Condition: not provided
Cardiovascular phenotype
Ehlers-Danlos syndrome
ZNF469-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA8225262

rs_201943633

8 SubmittersRCV000359081 RCV000512905 RCV002392875 RCV002278467 RCV003940261 RCV006441830

NM_001367624.2(ZNF469):c.8503G>C (p.Glu2835Gln)

SNV
Germline

Chr16:88435973

Conflicting classifications of pathogenicity

Brittle cornea syndrome 1
Condition: not provided
Ehlers-Danlos syndrome
Cardiovascular phenotype
ZNF469-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA8225342

rs_200153921

10 SubmittersRCV000304531 RCV001712037 RCV002278472 RCV002411216 RCV003972372 RCV005238904

NM_001367624.2(ZNF469):c.2132C>G (p.Pro711Arg)

SNV
Germline

Chr16:88429602

Conflicting classifications of pathogenicity

Brittle cornea syndrome 1
Condition: not provided
Ehlers-Danlos syndrome
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA8224748

rs_571184307

7 SubmittersRCV000364914 RCV001580482 RCV002278440 RCV002418178 RCV006268732

NM_001367624.2(ZNF469):c.5162G>T (p.Cys1721Phe)

SNV
Germline

Chr16:88432632

Conflicting classifications of pathogenicity

Condition: not provided
Brittle cornea syndrome 1
Ehlers-Danlos syndrome
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA8225051

rs_568197988

8 SubmittersRCV000416177 RCV000388630 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
Ehlers-Danlos syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA8225087

rs_199932922

8 SubmittersRCV000375933 RCV000513538 RCV002278460 RCV002348062

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.11425G>A (p.Glu3809Lys)

SNV
Germline

Chr16:88438895

Conflicting classifications of pathogenicity

Brittle cornea syndrome 1
Condition: not provided
Ehlers-Danlos syndrome
Cardiovascular phenotype
Brittle cornea syndrome
ZNF469-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA8225610

rs_201834513

11 SubmittersRCV000357348 RCV000996378 RCV002278485 RCV002323527 RCV002508931 RCV003969910 RCV003226279

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.3321G>A (p.Arg1107=)

SNV
Germline

Chr16:88430791

Conflicting classifications of pathogenicity

Brittle cornea syndrome 1
Condition: not provided
Cardiovascular phenotype
Ehlers-Danlos syndrome
not specified

Criteria Provided
Conflicting Classifications

CA8224843

rs_763826959

9 SubmittersRCV000266288 RCV000603861 RCV002446573 RCV002278450 RCV005238897

NM_001367624.2(ZNF469):c.7195C>T (p.Pro2399Ser)

SNV
Germline

Chr16:88434665

Conflicting classifications of pathogenicity

Brittle cornea syndrome 1
Condition: not provided
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA10648288

rs_759032227

7 SubmittersRCV000352275 RCV001092211 RCV002365386 RCV005894553

NM_001367624.2(ZNF469):c.7817A>C (p.Gln2606Pro)

SNV
Germline

Chr16:88435287

Conflicting classifications of pathogenicity

Brittle cornea syndrome 1
Condition: not provided
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA10648295

rs_529250336

4 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.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.2693C>T (p.Pro898Leu)

SNV
Germline

Chr16:88430163

Conflicting classifications of pathogenicity

Brittle cornea syndrome 1
Cardiovascular phenotype
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA8224793

rs_754458926

6 SubmittersRCV000317204 RCV002450880 RCV001843510 RCV005238896

NM_001367624.2(ZNF469):c.8387C>G (p.Pro2796Arg)

SNV
Germline

Chr16:88435857

Conflicting classifications of pathogenicity

Brittle cornea syndrome 1
Condition: not provided
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA10649195

rs_886052412

6 SubmittersRCV000339950 RCV001582960 RCV002429276 RCV005431614

NM_001367624.2(ZNF469):c.10330G>C (p.Gly3444Arg)

SNV
Germline

Chr16:88437800

Conflicting classifications of pathogenicity

Brittle cornea syndrome 1
not specified
Condition: not provided
Cardiovascular phenotype
ZNF469-related disorder

Criteria Provided
Conflicting Classifications

CA8225502

rs_569602115

6 SubmittersRCV000320795 RCV000488947 RCV002056535 RCV002379207 RCV003957656

NM_001367624.2(ZNF469):c.1609G>A (p.Val537Met)

SNV
Germline

Chr16:88429079

Conflicting classifications of pathogenicity

Condition: not provided
Ehlers-Danlos syndrome
Cardiovascular phenotype
Brittle cornea syndrome 1
ZNF469-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA8224690

rs_184458982

12 SubmittersRCV000488174 RCV002278643 RCV002402101 RCV003137993 RCV003902458 RCV005431649

NM_001367624.2(ZNF469):c.5914G>A (p.Gly1972Arg)

SNV
Germline

Chr16:88433384

Conflicting classifications of pathogenicity

not specified
Brittle cornea syndrome 1
Cardiovascular phenotype
Condition: not provided
Ehlers-Danlos syndrome
ZNF469-related disorder

Criteria Provided
Conflicting Classifications

CA8225115

rs_766410344

9 SubmittersRCV000413617 RCV000764089 RCV002356512 RCV002058871 RCV002278649 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
not specified

Criteria Provided
Conflicting Classifications

CA8225405

rs_376513000

5 SubmittersRCV001712355 RCV002374621 RCV002480268 RCV006452624

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
not specified

Criteria Provided
Conflicting Classifications

CA8224622

rs_540655479

8 SubmittersRCV001720029 RCV002244876 RCV002392966 RCV003959886 RCV006268766

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

11 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

5 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
Cardiovascular phenotype
Ehlers-Danlos syndrome
not specified

Criteria Provided
Conflicting Classifications

CA8225560

rs_200668806

11 SubmittersRCV000765316 RCV001531857 RCV002420232 RCV002279246 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
not specified

Criteria Provided
Conflicting Classifications

CA8224854

rs_755348435

6 SubmittersRCV000764086 RCV001851303 RCV002455944 RCV006452682

NM_001367624.2(ZNF469):c.1483C>T (p.Pro495Ser)

SNV
Germline

Chr16:88428953

Conflicting classifications of pathogenicity

Brittle cornea syndrome 1
Condition: not provided
Cardiovascular phenotype
Ehlers-Danlos syndrome
ZNF469-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA8224678

rs_202205643

13 SubmittersRCV000764084 RCV000728426 RCV002395196 RCV002279267 RCV003419830 RCV005407153

NM_001367624.2(ZNF469):c.8705C>T (p.Thr2902Met)

SNV
Germline

Chr16:88436175

Conflicting classifications of pathogenicity

Condition: not provided
Brittle cornea syndrome 1
Ehlers-Danlos syndrome
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA8225361

rs_536725615

8 SubmittersRCV000584880 RCV000765313 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
not specified

Criteria Provided
Conflicting Classifications

CA286371735

rs_896312288

6 SubmittersRCV001707723 RCV003403240 RCV002490919 RCV005520296 RCV006458468

NM_001367624.2(ZNF469):c.8599G>A (p.Gly2867Ser)

SNV
Germline

Chr16:88436069

Conflicting classifications of pathogenicity

Condition: not provided
Brittle cornea syndrome 1
Cardiovascular phenotype
ZNF469-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA286384276

rs_745468033

6 SubmittersRCV001696926 RCV002497030 RCV004023608 RCV003403241 RCV006458469

NM_001367624.2(ZNF469):c.9316C>T (p.Arg3106Trp)

SNV
Germline

Chr16:88436786

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Brittle cornea syndrome 1

Criteria Provided
Conflicting Classifications

CA397121818

rs_1292941352

4 SubmittersRCV001722446 RCV002376969 RCV002481728

NM_001367624.2(ZNF469):c.10328G>A (p.Gly3443Glu)

SNV
Germline

Chr16:88437798

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Brittle cornea syndrome 1
not specified

Criteria Provided
Conflicting Classifications

CA8225498

rs_140056980

6 SubmittersRCV001722448 RCV003380598 RCV005398762 RCV006438179

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
Ehlers-Danlos syndrome
Brittle cornea syndrome 1
Cardiovascular phenotype
ZNF469-related disorder

Criteria Provided
Conflicting Classifications

CA8225304

rs_558108271

7 SubmittersRCV001697451 RCV002279397 RCV002245044 RCV002413708 RCV003915774

NM_001367624.2(ZNF469):c.5006C>T (p.Ala1669Val)

SNV
Germline

Chr16:88432476

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Ehlers-Danlos syndrome
Brittle cornea syndrome 1

Criteria Provided
Conflicting Classifications

CA8225034

rs_200070902

10 SubmittersRCV000603553 RCV001531245 RCV002350440 RCV002279386 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
not specified

Criteria Provided
Conflicting Classifications

CA8225495

rs_56236932

8 SubmittersRCV001697875 RCV002279411 RCV002377272 RCV005392171 RCV006438466

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
Cardiovascular phenotype
Brittle cornea syndrome 1

Criteria Provided
Conflicting Classifications

CA286383625

rs_930146121

3 SubmittersRCV000996370 RCV002416278 RCV005394602

NM_001367624.2(ZNF469):c.11545C>T (p.Arg3849Trp)

SNV
Germline

Chr16:88439015

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Brittle cornea syndrome 1
not specified

Criteria Provided
Conflicting Classifications

CA8225619

rs_770109867

6 SubmittersRCV000996379 RCV002454242 RCV002497303 RCV006453506

NM_001367624.2(ZNF469):c.216G>T (p.Glu72Asp)

SNV
Germline

Chr16:88427686

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Brittle cornea syndrome 1
not specified

Criteria Provided
Conflicting Classifications

CA8224576

rs_543285355

6 SubmittersRCV001092204 RCV002429753 RCV005394734 RCV006446020

NM_001367624.2(ZNF469):c.5915G>T (p.Gly1972Val)

SNV
Germline

Chr16:88433385

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
ZNF469-related disorder
Brittle cornea syndrome 1
not specified

Criteria Provided
Conflicting Classifications

CA286381028

rs_573931575

8 SubmittersRCV001092209 RCV002355109 RCV004751880 RCV005394735 RCV005408691

NM_001367624.2(ZNF469):c.8931C>G (p.His2977Gln)

SNV
Germline

Chr16:88436401

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Brittle cornea syndrome 1

Criteria Provided
Conflicting Classifications

CA8225387

rs_758398877

5 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
Cardiovascular phenotype
Brittle cornea syndrome 1
not specified

Criteria Provided
Conflicting Classifications

CA286377313

rs_528985816

8 SubmittersRCV001200604 RCV002339496 RCV004783909 RCV006453572

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

Condition: not provided
Brittle cornea syndrome 1
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA8225213

rs_533944505

6 SubmittersRCV001551269 RCV001837009 RCV003161081 RCV006457402

NM_001367624.2(ZNF469):c.8458G>A (p.Gly2820Ser)

SNV
Germline

Chr16:88435928

Conflicting classifications of pathogenicity

Brittle cornea syndrome 1
Condition: not provided
not specified
Cardiovascular phenotype
Ehlers-Danlos syndrome

Criteria Provided
Conflicting Classifications

CA8225337

rs_761603858

7 SubmittersRCV002488380 RCV001562480 RCV006457414 RCV002440800 RCV002276792

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

Condition: not provided
Ehlers-Danlos syndrome
Cardiovascular phenotype
Brittle cornea syndrome 1
not specified

Criteria Provided
Conflicting Classifications

CA8225344

rs_751901105

6 SubmittersRCV001564808 RCV002276794 RCV002449369 RCV005014590 RCV006266862

NM_001367624.2(ZNF469):c.10199C>T (p.Pro3400Leu)

SNV
Germline

Chr16:88437669

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Brittle cornea syndrome 1
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA8225481

rs_281165933

6 SubmittersRCV001565935 RCV001815038 RCV002243305 RCV002324142

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.266A>G (p.Lys89Arg)

SNV
Germline

Chr16:88427736

Conflicting classifications of pathogenicity

Condition: not provided
Brittle cornea syndrome 1
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA286371466

rs_1022368248

4 SubmittersRCV001592300 RCV005865513 RCV004995963

NM_001367624.2(ZNF469):c.7340G>C (p.Arg2447Thr)

SNV
Germline

Chr16:88434810

Conflicting classifications of pathogenicity

Brittle cornea syndrome 1
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA8225237

rs_558035857

3 SubmittersRCV001733541 RCV002370269 RCV006453737

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

5 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
not specified

Criteria Provided
Conflicting Classifications

CA8225031

rs_554985503

7 SubmittersRCV001900151 RCV002334756 RCV002276917 RCV002506906 RCV006453770

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.2617C>A (p.Pro873Thr)

SNV
Germline

Chr16:88430087

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Brittle cornea syndrome 1

Criteria Provided
Conflicting Classifications

CA397073968

rs_1237408873

3 SubmittersRCV002012874 RCV005433116 RCV005864616

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
not specified

Criteria Provided
Conflicting Classifications

CA286374249

rs_1037451392

4 SubmittersRCV002015641 RCV005397257 RCV005520658 RCV006458872

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
not specified
Brittle cornea syndrome 1

Criteria Provided
Conflicting Classifications

CA8224745

rs_188954563

6 SubmittersRCV002197467 RCV002277004 RCV005406305 RCV005017113

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
Brittle cornea syndrome 1
not specified

Criteria Provided
Conflicting Classifications

CA8224895

rs_183126539

5 SubmittersRCV002975675 RCV003943662 RCV004068279 RCV005399044 RCV005239569

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