Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_022356.4(P3H1):c.1080+1G>T	SNV Germline	Chr1:42757782	Pathogenic	Osteogenesis imperfecta type 8 Condition: not provided Osteogenesis imperfecta P3H1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA212756	rs_72659351	12 SubmittersRCV000001315 RCV000255762 RCV002276526 RCV003914795
NM_022356.4(P3H1):c.1473+1G>T	SNV Germline	Chr1:42752536	Pathogenic	Osteogenesis imperfecta type 8	No Assertion Criteria Provided	CA212757	rs_72659354	1 SubmittersRCV000001316
NM_022356.4(P3H1):c.1656C>A (p.Tyr552Ter)	SNV Germline	Chr1:42750250	Pathogenic	Osteogenesis imperfecta type 8	Criteria Provided Single Submitter	CA114880	rs_72659355	2 SubmittersRCV000001318
NM_022356.4(P3H1):c.1102C>T (p.Arg368Ter)	SNV Germline	Chr1:42755616	Pathogenic	Osteogenesis imperfecta type 8 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA114888	rs_118203996	4 SubmittersRCV000001320 RCV000224137
NM_022356.4(P3H1):c.2055+18G>A	SNV Germline	Chr1:42747254	Pathogenic/Likely pathogenic	Osteogenesis imperfecta type 8 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA212759	rs_137853890	5 SubmittersRCV000001321 RCV003153292
NM_022356.4(P3H1):c.1170+9G>A	SNV Germline	Chr1:42755539	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA235745	rs_786205443	1 SubmittersRCV000171152
NM_022356.4(P3H1):c.2152C>G (p.Pro718Ala)	SNV Germline	Chr1:42746756	Conflicting classifications of pathogenicity	Condition: not provided Osteogenesis Imperfecta, Recessive Osteogenesis imperfecta type 8 P3H1-related disorder	Criteria Provided Conflicting Classifications	CA240595	rs_533729683	5 SubmittersRCV000724099 RCV001097676 RCV001078667 RCV003917620
NM_022356.4(P3H1):c.756C>T (p.Tyr252=)	SNV Germline	Chr1:42759253	Conflicting classifications of pathogenicity	Condition: not provided Osteogenesis imperfecta type 8	Criteria Provided Conflicting Classifications	CA243483	rs_770943260	3 SubmittersRCV000177330 RCV002054089
NM_022356.4(P3H1):c.852G>A (p.Thr284=)	SNV Germline	Chr1:42758940	Conflicting classifications of pathogenicity	Condition: not provided Osteogenesis imperfecta type 8	Criteria Provided Conflicting Classifications	CA245405	rs_765846480	2 SubmittersRCV000178336 RCV001343505
NM_022356.4(P3H1):c.392C>A (p.Ser131Ter)	SNV Germline	Chr1:42766580	Pathogenic/Likely pathogenic	Condition: not provided Osteogenesis imperfecta type 8	Criteria Provided Multiple Submitters No Conflicts	CA10588294	rs_72659347	3 SubmittersRCV000254851 RCV003495125
NM_022356.4(P3H1):c.1569+1G>A	SNV Germline	Chr1:42752273	Pathogenic/Likely pathogenic	Condition: not provided Osteogenesis imperfecta type 8	Criteria Provided Multiple Submitters No Conflicts	CA801797	rs_369651701	2 SubmittersRCV000395246 RCV003600372
NM_022356.4(P3H1):c.1721-4C>T	SNV Germline	Chr1:42748321	Conflicting classifications of pathogenicity	Condition: not provided Osteogenesis imperfecta type 8 P3H1-related disorder	Criteria Provided Conflicting Classifications	CA801706	rs_200901466	4 SubmittersRCV000345547 RCV001084404 RCV003977737
NM_022356.4(P3H1):c.1322A>G (p.Asp441Gly)	SNV Germline	Chr1:42754892	Conflicting classifications of pathogenicity	not specified Condition: not provided Osteogenesis imperfecta type 8 Osteogenesis imperfecta P3H1-related disorder	Criteria Provided Conflicting Classifications	CA801884	rs_113593896	10 SubmittersRCV000402019 RCV000487953 RCV001079324 RCV002278278 RCV003982984
NM_022356.4(P3H1):c.1346-1G>C	SNV Germline	Chr1:42752665	Pathogenic	Condition: not provided Osteogenesis imperfecta type 8	Criteria Provided Multiple Submitters No Conflicts	CA10604830	rs_886042897	6 SubmittersRCV000360614 RCV001036322
NM_022356.4(P3H1):c.2164C>A (p.Gln722Lys)	SNV Germline	Chr1:42746744	Conflicting classifications of pathogenicity	Condition: not provided Osteogenesis imperfecta type 8 not specified	Criteria Provided Conflicting Classifications	CA801502	rs_771006240	5 SubmittersRCV000354246 RCV000810347 RCV002307480
NM_022356.4(P3H1):c.1221G>A (p.Gln407=)	SNV Germline	Chr1:42755167	Conflicting classifications of pathogenicity	Condition: not provided Osteogenesis imperfecta type 8	Criteria Provided Conflicting Classifications	CA10606008	rs_886043833	3 SubmittersRCV000359884 RCV005090380
NM_022356.4(P3H1):c.1529A>G (p.Asn510Ser)	SNV Germline	Chr1:42752314	Conflicting classifications of pathogenicity	not specified Condition: not provided Osteogenesis imperfecta type 8 P3H1-related disorder	Criteria Provided Conflicting Classifications	CA801807	rs_149894086	5 SubmittersRCV000381836 RCV000756458 RCV002059256 RCV003910018
NM_022356.4(P3H1):c.1068C>T (p.Ile356=)	SNV Germline	Chr1:42757795	Conflicting classifications of pathogenicity	Condition: not provided Osteogenesis imperfecta type 8	Criteria Provided Conflicting Classifications	CA801993	rs_373669933	2 SubmittersRCV000269043 RCV002519352
NM_022356.4(P3H1):c.1120G>T (p.Glu374Ter)	SNV Germline	Chr1:42755598	Pathogenic/Likely pathogenic	Condition: not provided Osteogenesis imperfecta type 8	Criteria Provided Multiple Submitters No Conflicts	CA801964	rs_140468248	5 SubmittersRCV000369412 RCV003454835
NM_022356.4(P3H1):c.1A>G (p.Met1Val)	SNV Germline	Chr1:42766971	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA16042395	rs_761033636	1 SubmittersRCV000412937
NM_022356.4(P3H1):c.1473+5G>T	SNV Germline	Chr1:42752532	Conflicting classifications of pathogenicity	not specified Condition: not provided Osteogenesis imperfecta type 8 Osteogenesis Imperfecta, Recessive	Criteria Provided Conflicting Classifications	CA801839	rs_114044880	4 SubmittersRCV000423443 RCV000766765 RCV001087130 RCV001097774
NM_022356.4(P3H1):c.1233G>A (p.Arg411=)	SNV Germline	Chr1:42754981	Conflicting classifications of pathogenicity	not specified Osteogenesis imperfecta type 8 Osteogenesis Imperfecta, Recessive Osteogenesis imperfecta	Criteria Provided Conflicting Classifications	CA801902	rs_61746653	5 SubmittersRCV000424568 RCV000543025 RCV001099569 RCV002278661
NM_022356.4(P3H1):c.1026C>T (p.Ala342=)	SNV Germline	Chr1:42757837	Conflicting classifications of pathogenicity	not specified Osteogenesis imperfecta type 8 Osteogenesis Imperfecta, Recessive Osteogenesis imperfecta	Criteria Provided Conflicting Classifications	CA801999	rs_61100157	5 SubmittersRCV000440114 RCV001001470 RCV001101549 RCV002278665
NM_022356.4(P3H1):c.139G>T (p.Ala47Ser)	SNV Germline	Chr1:42766833	Conflicting classifications of pathogenicity	not specified Osteogenesis imperfecta type 8 Osteogenesis Imperfecta, Recessive Osteogenesis imperfecta	Criteria Provided Conflicting Classifications	CA802228	rs_55716016	5 SubmittersRCV000432456 RCV000551291 RCV001097863 RCV002278659
NM_022356.4(P3H1):c.-45C>T	SNV Germline	Chr1:42767016	Conflicting classifications of pathogenicity	not specified Osteogenesis Imperfecta, Recessive	Criteria Provided Conflicting Classifications	CA802265	rs_183564323	2 SubmittersRCV000423335 RCV001099662
NM_022356.4(P3H1):c.1812C>T (p.Pro604=)	SNV Germline	Chr1:42748226	Conflicting classifications of pathogenicity	not specified Osteogenesis Imperfecta, Recessive Osteogenesis imperfecta type 8 Osteogenesis imperfecta	Criteria Provided Conflicting Classifications	CA801693	rs_34809608	5 SubmittersRCV000442874 RCV001099457 RCV001001467 RCV002278668
NM_022356.4(P3H1):c.1569+3A>G	SNV Germline	Chr1:42752271	Conflicting classifications of pathogenicity	not specified Osteogenesis imperfecta type 8 Osteogenesis Imperfecta, Recessive Osteogenesis imperfecta	Criteria Provided Conflicting Classifications	CA801796	rs_76871760	5 SubmittersRCV000433949 RCV001001468 RCV001095992 RCV002278667
NM_022356.4(P3H1):c.1045G>A (p.Gly349Arg)	SNV Germline	Chr1:42757818	Conflicting classifications of pathogenicity	not specified Osteogenesis imperfecta type 8 Osteogenesis Imperfecta, Recessive	Criteria Provided Conflicting Classifications	CA801996	rs_6700677	5 SubmittersRCV000443398 RCV000532565 RCV001101548
NM_022356.4(P3H1):c.1647G>A (p.Met549Ile)	SNV Germline	Chr1:42750259	Conflicting classifications of pathogenicity	not specified Osteogenesis imperfecta type 8 Osteogenesis Imperfecta, Recessive	Criteria Provided Conflicting Classifications	CA801749	rs_11581921	3 SubmittersRCV000441888 RCV001095988 RCV001095987
NM_022356.4(P3H1):c.1284C>T (p.Ile428=)	SNV Germline	Chr1:42754930	Conflicting classifications of pathogenicity	not specified Osteogenesis imperfecta type 8 Osteogenesis Imperfecta, Recessive Osteogenesis imperfecta	Criteria Provided Conflicting Classifications	CA801893	rs_61746642	5 SubmittersRCV000422896 RCV001001469 RCV001099567 RCV002278666
NM_022356.4(P3H1):c.1504G>C (p.Gly502Arg)	SNV Germline	Chr1:42752339	Conflicting classifications of pathogenicity	Condition: not provided Osteogenesis imperfecta type 8 Osteogenesis Imperfecta, Recessive not specified	Criteria Provided Conflicting Classifications	CA801813	rs_139259804	7 SubmittersRCV000489750 RCV000538652 RCV001097772 RCV005407150
NM_022356.4(P3H1):c.1626G>A (p.Thr542=)	SNV Germline	Chr1:42750280	Conflicting classifications of pathogenicity	Osteogenesis imperfecta type 8 Osteogenesis Imperfecta, Recessive Condition: not provided Osteogenesis imperfecta	Criteria Provided Conflicting Classifications	CA801754	rs_577059613	5 SubmittersRCV000541733 RCV001095990 RCV001546295 RCV002279351
NM_022356.4(P3H1):c.1428C>T (p.Gly476=)	SNV Germline	Chr1:42752582	Conflicting classifications of pathogenicity	Osteogenesis imperfecta type 8 Osteogenesis Imperfecta, Recessive Osteogenesis imperfecta P3H1-related disorder	Criteria Provided Conflicting Classifications	CA801849	rs_141786883	4 SubmittersRCV000535611 RCV001097776 RCV002279350 RCV003925666
NM_022356.4(P3H1):c.978C>T (p.Thr326=)	SNV Germline	Chr1:42757885	Conflicting classifications of pathogenicity	not specified Osteogenesis imperfecta type 8 Osteogenesis Imperfecta, Recessive Osteogenesis imperfecta	Criteria Provided Conflicting Classifications	CA802006	rs_74070022	5 SubmittersRCV000610741 RCV001000260 RCV001096106 RCV002279356
NM_022356.4(P3H1):c.1720+4G>A	SNV Germline	Chr1:42750182	Conflicting classifications of pathogenicity	Osteogenesis imperfecta type 8 Osteogenesis Imperfecta, Recessive Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA801728	rs_371232413	4 SubmittersRCV000542489 RCV001101451 RCV001722499 RCV005435013
NM_022356.4(P3H1):c.693G>A (p.Ala231=)	SNV Germline	Chr1:42759316	Conflicting classifications of pathogenicity	Osteogenesis imperfecta type 8 not specified Osteogenesis Imperfecta, Recessive	Criteria Provided Conflicting Classifications	CA802094	rs_149113630	3 SubmittersRCV000532202 RCV000605499 RCV001096110
NM_022356.4(P3H1):c.1930C>A (p.Gln644Lys)	SNV Germline	Chr1:42747397	Conflicting classifications of pathogenicity	Osteogenesis imperfecta type 8 Osteogenesis Imperfecta, Recessive Condition: not provided	Criteria Provided Conflicting Classifications	CA801637	rs_3738497	3 SubmittersRCV000547688 RCV001099454 RCV001539895
NM_022356.4(P3H1):c.2147G>C (p.Gly716Ala)	SNV Germline	Chr1:42746761	Conflicting classifications of pathogenicity	Condition: not provided Osteogenesis imperfecta type 8 not specified Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA801513	rs_573577299	4 SubmittersRCV000524616 RCV001424689 RCV003330780 RCV005384768
NM_022356.4(P3H1):c.1838+9G>A	SNV Germline	Chr1:42748191	Conflicting classifications of pathogenicity	Osteogenesis imperfecta type 8 Osteogenesis imperfecta	Criteria Provided Conflicting Classifications	CA801681	rs_374946028	3 SubmittersRCV000559453 RCV002279354
NM_022356.4(P3H1):c.611C>A (p.Pro204His)	SNV Germline	Chr1:42762330	Conflicting classifications of pathogenicity	Osteogenesis imperfecta type 8 not specified Osteogenesis Imperfecta, Recessive Condition: not provided Osteogenesis imperfecta	Criteria Provided Conflicting Classifications	CA802142	rs_77208721	7 SubmittersRCV000999909 RCV000610522 RCV001096112 RCV001573726 RCV002279355
NM_022356.4(P3H1):c.327C>T (p.Phe109=)	SNV Germline	Chr1:42766645	Conflicting classifications of pathogenicity	not specified Osteogenesis imperfecta type 8 Osteogenesis Imperfecta, Recessive	Criteria Provided Conflicting Classifications	CA802204	rs_370773974	3 SubmittersRCV000597753 RCV000876592 RCV001097862
NM_022356.4(P3H1):c.1501C>T (p.Arg501Trp)	SNV Germline	Chr1:42752342	Conflicting classifications of pathogenicity	Osteogenesis imperfecta type 8 Osteogenesis Imperfecta, Recessive Condition: not provided P3H1-related disorder	Criteria Provided Conflicting Classifications	CA801815	rs_115108794	5 SubmittersRCV000645494 RCV001097773 RCV001672913 RCV003905744
NM_022356.4(P3H1):c.830A>G (p.Asn277Ser)	SNV Germline	Chr1:42758962	Conflicting classifications of pathogenicity	Osteogenesis imperfecta type 8 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA802052	rs_200403014	2 SubmittersRCV000645490 RCV005453048
NM_022356.4(P3H1):c.1620C>T (p.Asn540=)	SNV Germline	Chr1:42750286	Conflicting classifications of pathogenicity	Osteogenesis imperfecta type 8 Osteogenesis Imperfecta, Recessive P3H1-related disorder	Criteria Provided Conflicting Classifications	CA801758	rs_140334418	3 SubmittersRCV000645492 RCV001095991 RCV003953154
NM_022356.4(P3H1):c.81G>C (p.Glu27Asp)	SNV Germline	Chr1:42766891	Conflicting classifications of pathogenicity	Osteogenesis imperfecta type 8 Condition: not provided Osteogenesis Imperfecta, Recessive Osteogenesis imperfecta	Criteria Provided Conflicting Classifications	CA802238	rs_201750444	4 SubmittersRCV000645496 RCV001731837 RCV001097864 RCV002279466
NM_022356.4(P3H1):c.1222A>T (p.Lys408Ter)	SNV Germline	Chr1:42755166	Pathogenic	Osteogenesis imperfecta type 8	Criteria Provided Single Submitter	CA339957967	rs_1557569037	1 SubmittersRCV000686866
NM_022356.4(P3H1):c.1171-2A>T	SNV Germline	Chr1:42755219	Likely pathogenic	Osteogenesis imperfecta type 8	Criteria Provided Single Submitter	CA339958158	rs_1013320485	1 SubmittersRCV000692569
NM_022356.4(P3H1):c.940+1G>T	SNV Germline	Chr1:42758851	Likely pathogenic	Osteogenesis imperfecta type 8	Criteria Provided Single Submitter	CA802028	rs_762525651	1 SubmittersRCV000686871
NM_022356.4(P3H1):c.2041C>T (p.Arg681Ter)	SNV Germline	Chr1:42747286	Pathogenic/Likely pathogenic	Osteogenesis Imperfecta, Recessive Osteogenesis imperfecta type 8	Criteria Provided Multiple Submitters No Conflicts	CA21241339	rs_72659356	5 SubmittersRCV000778981 RCV002487599
NM_022356.4(P3H1):c.874C>T (p.Arg292Ter)	SNV Germline	Chr1:42758918	Pathogenic/Likely pathogenic	Osteogenesis imperfecta type 8	Criteria Provided Multiple Submitters No Conflicts	CA802049	rs_773269078	2 SubmittersRCV001869131
NM_022356.4(P3H1):c.541C>T (p.Gln181Ter)	SNV Germline	Chr1:42762400	Pathogenic	Osteogenesis imperfecta	Criteria Provided Single Submitter	CA339962137	rs_1570479611	1 SubmittersRCV000790419
NM_022356.4(P3H1):c.232C>T (p.Gln78Ter)	SNV Germline	Chr1:42766740	Pathogenic	Osteogenesis imperfecta type 8 Osteogenesis imperfecta	Criteria Provided Single Submitter	CA339963868	rs_1330779100	2 SubmittersRCV000786860 RCV004579563
NM_022356.4(P3H1):c.1459C>T (p.Gln487Ter)	SNV Germline	Chr1:42752551	Pathogenic	Osteogenesis imperfecta type 8	Criteria Provided Single Submitter	CA339955969	rs_1229143002	1 SubmittersRCV000822886
NM_022356.4(P3H1):c.1060A>T (p.Arg354Ter)	SNV Germline	Chr1:42757803	Pathogenic	Osteogenesis imperfecta type 8	Criteria Provided Single Submitter	CA339958779	rs_1570472113	1 SubmittersRCV000811339
NM_022356.4(P3H1):c.1795G>A (p.Val599Met)	SNV Germline	Chr1:42748243	Conflicting classifications of pathogenicity	Osteogenesis imperfecta type 8 Condition: not provided Inborn genetic diseases P3H1-related disorder	Criteria Provided Conflicting Classifications	CA801698	rs_140254470	4 SubmittersRCV000876554 RCV001535008 RCV002540006 RCV003920455
NM_022356.4(P3H1):c.1215G>A (p.Glu405=)	SNV Germline	Chr1:42755173	Conflicting classifications of pathogenicity	Osteogenesis imperfecta type 8 Osteogenesis imperfecta	Criteria Provided Conflicting Classifications	CA801933	rs_527679322	4 SubmittersRCV000877300 RCV002279591
NM_022356.4(P3H1):c.194G>A (p.Arg65Gln)	SNV Germline	Chr1:42766778	Conflicting classifications of pathogenicity	Osteogenesis imperfecta type 8 Condition: not provided Inborn genetic diseases P3H1-related disorder	Criteria Provided Conflicting Classifications	CA802217	rs_372710498	4 SubmittersRCV000876555 RCV001556317 RCV002540007 RCV003955744
NM_022356.4(P3H1):c.1226C>G (p.Ser409Ter)	SNV Germline	Chr1:42754988	Pathogenic	Osteogenesis imperfecta type 8	Criteria Provided Single Submitter	CA339957920	rs_1652311421	1 SubmittersRCV001067198
NM_022356.4(P3H1):c.1170+6C>G	SNV Germline	Chr1:42755542	Likely pathogenic	Osteogenesis imperfecta type 8	Criteria Provided Single Submitter	CA916081286	rs_1652352034	1 SubmittersRCV001036321
NM_022356.4(P3H1):c.*77C>T	SNV Germline	Chr1:42746620	Conflicting classifications of pathogenicity	Osteogenesis imperfecta type 8 Osteogenesis Imperfecta, Recessive Condition: not provided	Criteria Provided Conflicting Classifications	CA10669993	rs_13871	2 SubmittersRCV001095901 RCV001095900 RCV001644915
NM_022356.4(P3H1):c.2100A>G (p.Pro700=)	SNV Germline	Chr1:42746808	Conflicting classifications of pathogenicity	Osteogenesis Imperfecta, Recessive Osteogenesis imperfecta type 8	Criteria Provided Conflicting Classifications	CA801524	rs_372711844	2 SubmittersRCV001097678 RCV001456816
NM_022356.4(P3H1):c.1944C>T (p.Ala648=)	SNV Germline	Chr1:42747383	Conflicting classifications of pathogenicity	Osteogenesis imperfecta type 8 P3H1-related disorder	Criteria Provided Conflicting Classifications	CA801635	rs_760909376	3 SubmittersRCV001099453 RCV004726882
NM_022356.4(P3H1):c.1686C>T (p.Ser562=)	SNV Germline	Chr1:42750220	Conflicting classifications of pathogenicity	Osteogenesis Imperfecta, Recessive Osteogenesis imperfecta type 8	Criteria Provided Conflicting Classifications	CA801740	rs_747701845	2 SubmittersRCV001101452 RCV003495232
NM_022356.4(P3H1):c.1086C>T (p.Ala362=)	SNV Germline	Chr1:42755632	Conflicting classifications of pathogenicity	Osteogenesis Imperfecta, Recessive Osteogenesis imperfecta type 8	Criteria Provided Conflicting Classifications	CA21244131	rs_777090883	3 SubmittersRCV001101546 RCV001287271
NM_022356.4(P3H1):c.69G>A (p.Glu23=)	SNV Germline	Chr1:42766903	Conflicting classifications of pathogenicity	Osteogenesis Imperfecta, Recessive Osteogenesis imperfecta type 8	Criteria Provided Conflicting Classifications	CA417397185	rs_1237398609	2 SubmittersRCV001099659 RCV003600399
NM_022356.4(P3H1):c.-57G>T	SNV Germline	Chr1:42767028	Conflicting classifications of pathogenicity	Osteogenesis Imperfecta, Recessive Osteogenesis imperfecta type 8	Criteria Provided Conflicting Classifications	CA21251915	rs_190782130	1 SubmittersRCV001099663 RCV001099664
NM_022356.4(P3H1):c.619-11C>T	SNV Germline	Chr1:42759401	Conflicting classifications of pathogenicity	Osteogenesis Imperfecta, Recessive Osteogenesis imperfecta type 8	Criteria Provided Conflicting Classifications	CA802111	rs_202219307	2 SubmittersRCV001096111 RCV002069623
NM_022356.4(P3H1):c.1839-2A>C	SNV Germline	Chr1:42747800	Pathogenic/Likely pathogenic	Osteogenesis imperfecta type 8	Criteria Provided Multiple Submitters No Conflicts	CA801666	rs_755665899	3 SubmittersRCV001261598
NM_022356.4(P3H1):c.664C>T (p.Gln222Ter)	SNV Germline	Chr1:42759345	Pathogenic	Osteogenesis imperfecta type 8	Criteria Provided Multiple Submitters No Conflicts	CA339960201	rs_1214987088	2 SubmittersRCV001287330
NM_022356.4(P3H1):c.628C>T (p.Arg210Ter)	SNV Germline	Chr1:42759381	Pathogenic	Osteogenesis imperfecta type 8	Criteria Provided Single Submitter	CA802108	rs_137853950	1 SubmittersRCV003497294
NM_022356.4(P3H1):c.1170+5G>C	SNV Germline	Chr1:42755543	Pathogenic/Likely pathogenic	Osteogenesis imperfecta type 8 P3H1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA801951	rs_72659353	3 SubmittersRCV001371301 RCV003405619
NM_022356.4(P3H1):c.838C>T (p.Gln280Ter)	SNV Germline	Chr1:42758954	Pathogenic	Osteogenesis imperfecta type 8 P3H1-related disorder Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA339959549	rs_1652551021	6 SubmittersRCV001390265 RCV003394025 RCV003154031
NM_022356.4(P3H1):c.1531G>T (p.Glu511Ter)	SNV Germline	Chr1:42752312	Pathogenic	Osteogenesis imperfecta type 8	Criteria Provided Single Submitter	CA801805	rs_773832238	1 SubmittersRCV003600830
NM_022356.4(P3H1):c.1408C>T (p.Gln470Ter)	SNV Germline	Chr1:42752602	Pathogenic	Osteogenesis imperfecta type 8	Criteria Provided Single Submitter	CA801859	rs_757634052	1 SubmittersRCV003820402
NM_022356.4(P3H1):c.1345+1G>A	SNV Germline	Chr1:42754868	Likely pathogenic	Osteogenesis imperfecta type 8	Criteria Provided Multiple Submitters No Conflicts	CA801880	rs_780595278	2 SubmittersRCV002024402
NM_022356.4(P3H1):c.652G>T (p.Glu218Ter)	SNV Germline	Chr1:42759357	Pathogenic	Osteogenesis imperfecta type 8	Criteria Provided Multiple Submitters No Conflicts	CA339960267	rs_2124142972	2 SubmittersRCV001933024
NM_022356.4(P3H1):c.765C>A (p.Tyr255Ter)	SNV Germline	Chr1:42759244	Pathogenic	Osteogenesis imperfecta type 8	Criteria Provided Single Submitter	CA802083	rs_72659349	1 SubmittersRCV001940990
NM_022356.4(P3H1):c.941-1G>A	SNV Germline	Chr1:42757923	Likely pathogenic	Osteogenesis imperfecta type 8	Criteria Provided Single Submitter	CA802014	rs_778209371	1 SubmittersRCV001990923
NM_022356.4(P3H1):c.933C>G (p.Tyr311Ter)	SNV Germline	Chr1:42758859	Pathogenic	Osteogenesis imperfecta type 8	Criteria Provided Single Submitter	CA21245248	rs_72659350	1 SubmittersRCV001895766
NM_022356.4(P3H1):c.1915-1G>A	SNV Germline	Chr1:42747413	Pathogenic/Likely pathogenic	Osteogenesis imperfecta type 8	Criteria Provided Multiple Submitters No Conflicts	CA339953200	rs_2124077667	4 SubmittersRCV002030594
NM_022356.4(P3H1):c.1223+2T>C	SNV Germline	Chr1:42755163	Pathogenic	Osteogenesis imperfecta type 8	Criteria Provided Single Submitter	CA339957956	rs_2124122351	1 SubmittersRCV001951372
NM_022356.4(P3H1):c.2055+1G>A	SNV Germline	Chr1:42747271	Pathogenic	Osteogenesis imperfecta type 8	Criteria Provided Single Submitter	CA339952233	rs_2124076040	1 SubmittersRCV001930947
NM_022356.4(P3H1):c.2143C>T (p.Gln715Ter)	SNV Germline	Chr1:42746765	Pathogenic	Osteogenesis imperfecta type 8	Criteria Provided Multiple Submitters No Conflicts	CA339950536	rs_2124072579	2 SubmittersRCV002254405
NM_022356.4(P3H1):c.1096C>T (p.Arg366Ter)	SNV Germline	Chr1:42755622	Pathogenic/Likely pathogenic	Osteogenesis imperfecta Osteogenesis imperfecta type 8	Criteria Provided Multiple Submitters No Conflicts	CA801967	rs_752575140	3 SubmittersRCV002277816 RCV003096240
NM_022356.4(P3H1):c.2154C>T (p.Pro718=)	SNV Germline	Chr1:42746754	Conflicting classifications of pathogenicity	Osteogenesis imperfecta Osteogenesis imperfecta type 8	Criteria Provided Conflicting Classifications	CA801506	rs_775626323	2 SubmittersRCV002277822 RCV003495270
NM_022356.4(P3H1):c.1224-79G>A	SNV Germline	Chr1:42755069	Likely pathogenic	Osteogenesis imperfecta type 8	Criteria Provided Single Submitter	CA2580062792	rs_2524451273	1 SubmittersRCV002302845
NM_022356.4(P3H1):c.438C>A (p.Tyr146Ter)	SNV Germline	Chr1:42766534	Pathogenic	Osteogenesis imperfecta type 8	Criteria Provided Single Submitter	CA21251366	rs_967101692	1 SubmittersRCV003091843
NM_022356.4(P3H1):c.922C>T (p.Gln308Ter)	SNV Germline	Chr1:42758870	Pathogenic	Osteogenesis imperfecta type 8	Criteria Provided Single Submitter	CA339959361	rs_2524469917	1 SubmittersRCV002889981
NM_022356.4(P3H1):c.62A>G (p.Gln21Arg)	SNV Germline	Chr1:42766910	Conflicting classifications of pathogenicity	Osteogenesis imperfecta type 8 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA802241	rs_369450623	2 SubmittersRCV002895569 RCV002917512
NM_022356.4(P3H1):c.1873G>A (p.Gly625Arg)	SNV Germline	Chr1:42747764	Pathogenic/Likely pathogenic	Osteogenesis imperfecta type 8 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA339953433	rs_1651811244	3 SubmittersRCV003123572 RCV005602018
NM_022356.4(P3H1):c.640C>T (p.Arg214Ter)	SNV Germline	Chr1:42759369	Pathogenic	Osteogenesis imperfecta type 8 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA802105	rs_200899260	3 SubmittersRCV003123573 RCV005602019
NM_022356.4(P3H1):c.2055+86A>G	SNV Germline	Chr1:42747186	Likely pathogenic	Condition: not provided Osteogenesis imperfecta type 8	Criteria Provided Multiple Submitters No Conflicts	CA339951938	rs_2524398325	3 SubmittersRCV003314873 RCV003322940
NM_022356.4(P3H1):c.1345G>A (p.Gly449Ser)	SNV Germline	Chr1:42754869	Conflicting classifications of pathogenicity	not specified Osteogenesis imperfecta type 8	Criteria Provided Conflicting Classifications	CA339957366	rs_2524449692	2 SubmittersRCV003324224 RCV003495331
NM_022356.4(P3H1):c.951T>A (p.Tyr317Ter)	SNV Germline	Chr1:42757912	Pathogenic	Osteogenesis imperfecta type 8	Criteria Provided Single Submitter	CA339959091	rs_758079491	1 SubmittersRCV003496184
NM_022356.4(P3H1):c.2164C>T (p.Gln722Ter)	SNV Germline	Chr1:42746744	Pathogenic/Likely pathogenic	Osteogenesis imperfecta type 8	Criteria Provided Multiple Submitters No Conflicts	CA339950374	rs_771006240	2 SubmittersRCV003494624
NM_022356.4(P3H1):c.1914+1G>A	SNV Germline	Chr1:42747722	Pathogenic	Osteogenesis imperfecta type 8	Criteria Provided Multiple Submitters No Conflicts	CA339953257	rs_1226013247	2 SubmittersRCV003494626
NM_022356.4(P3H1):c.1223+2T>G	SNV Germline	Chr1:42755163	Pathogenic	Osteogenesis imperfecta type 8	Criteria Provided Single Submitter	CA339957955	rs_2124122351	1 SubmittersRCV003494627
NM_022356.4(P3H1):c.941-2A>T	SNV Germline	Chr1:42757924	Likely pathogenic	Osteogenesis imperfecta type 8	Criteria Provided Single Submitter	CA339959116	rs_1194444860	1 SubmittersRCV003494808
NM_022356.4(P3H1):c.1170+2T>C	SNV Germline	Chr1:42755546	Likely pathogenic	Osteogenesis imperfecta type 8	Criteria Provided Single Submitter	CA339958182	rs_72659352	1 SubmittersRCV003495030
NM_022356.4(P3H1):c.448C>T (p.Gln150Ter)	SNV Germline	Chr1:42766524	Pathogenic	Osteogenesis imperfecta type 8	Criteria Provided Single Submitter	CA339963411	rs_1383503951	1 SubmittersRCV003495715
NM_022356.4(P3H1):c.1316C>G (p.Ser439Ter)	SNV Germline	Chr1:42754898	Pathogenic	Osteogenesis imperfecta type 8	Criteria Provided Single Submitter	CA339957504	rs_2524449933	1 SubmittersRCV003600596
NM_022356.4(P3H1):c.955C>T (p.Gln319Ter)	SNV Germline	Chr1:42757908	Pathogenic	Osteogenesis imperfecta type 8	Criteria Provided Single Submitter	CA339959083	rs_1326693946	1 SubmittersRCV003601543
NM_022356.4(P3H1):c.1051G>T (p.Glu351Ter)	SNV Germline	Chr1:42757812	Pathogenic/Likely pathogenic	Osteogenesis imperfecta type 8	Criteria Provided Multiple Submitters No Conflicts	CA339958809	rs_2124135089	2 SubmittersRCV003601802
NM_022356.4(P3H1):c.1474-1G>A	SNV Germline	Chr1:42752370	Likely pathogenic	Osteogenesis imperfecta type 8	Criteria Provided Multiple Submitters No Conflicts	CA339955835	rs_1652152909	2 SubmittersRCV003601734
NM_022356.4(P3H1):c.1090G>T (p.Glu364Ter)	SNV Germline	Chr1:42755628	Pathogenic	Osteogenesis imperfecta type 8	Criteria Provided Single Submitter	CA339958416	rs_2524456560	1 SubmittersRCV003602171
NM_022356.4(P3H1):c.1224-2A>G	SNV Germline	Chr1:42754992	Likely pathogenic	Osteogenesis imperfecta type 8	Criteria Provided Single Submitter	CA339957935	rs_2524450808	1 SubmittersRCV003602088
NM_022356.4(P3H1):c.1346-1G>A	SNV Germline	Chr1:42752665	Pathogenic	Osteogenesis imperfecta type 8	Criteria Provided Single Submitter	CA339956619	rs_886042897	1 SubmittersRCV003602322
NM_022356.4(P3H1):c.739G>T (p.Glu247Ter)	SNV Germline	Chr1:42759270	Pathogenic	Osteogenesis imperfecta type 8	Criteria Provided Single Submitter	CA339959860	rs_760265361	1 SubmittersRCV003601182
NM_022356.4(P3H1):c.809-1G>A	SNV Germline	Chr1:42758984	Likely pathogenic	Osteogenesis imperfecta type 8	Criteria Provided Single Submitter	CA339959620	rs_758415465	1 SubmittersRCV003601119
NM_022356.4(P3H1):c.273G>A (p.Trp91Ter)	SNV Germline	Chr1:42766699	Pathogenic	Osteogenesis imperfecta type 8	Criteria Provided Single Submitter	CA339963774	rs_1481553944	1 SubmittersRCV003836467
NM_022356.4(P3H1):c.1914+2T>C	SNV Germline	Chr1:42747721	Likely pathogenic	Osteogenesis imperfecta type 8	Criteria Provided Single Submitter	CA339953253	rs_1306034404	1 SubmittersRCV003857370
NM_022356.4(P3H1):c.2024G>A (p.Trp675Ter)	SNV Germline	Chr1:42747303	Pathogenic/Likely pathogenic	Osteogenesis imperfecta type 8	Criteria Provided Multiple Submitters No Conflicts	CA339952482	rs_1226770904	2 SubmittersRCV003874384
NM_022356.4(P3H1):c.1720+1G>A	SNV Germline	Chr1:42750185	Likely pathogenic	Osteogenesis imperfecta type 8	Criteria Provided Single Submitter	CA339954677	rs_2524418358	1 SubmittersRCV003874804
NM_022356.4(P3H1):c.2065C>T (p.Gln689Ter)	SNV Germline	Chr1:42746843	Likely pathogenic	Osteogenesis imperfecta type 8	Criteria Provided Single Submitter			1 SubmittersRCV004720655
NM_022356.4(P3H1):c.1474-2A>G	SNV Germline	Chr1:42752371	Likely pathogenic	Osteogenesis imperfecta type 8	Criteria Provided Single Submitter			1 SubmittersRCV004797556
NM_022356.4(P3H1):c.2002C>T (p.Gln668Ter)	SNV Germline	Chr1:42747325	Likely pathogenic	Osteogenesis imperfecta type 8	Criteria Provided Single Submitter			1 SubmittersRCV005015860
NM_022356.4(P3H1):c.618+1G>A	SNV Germline	Chr1:42762322	Likely pathogenic	Osteogenesis imperfecta type 8	Criteria Provided Single Submitter			1 SubmittersRCV005028732
NM_022356.4(P3H1):c.465+2T>G	SNV Germline	Chr1:42766505	Likely pathogenic	Osteogenesis imperfecta type 8	Criteria Provided Single Submitter			1 SubmittersRCV005015927
NM_022356.4(P3H1):c.121G>T (p.Glu41Ter)	SNV Germline	Chr1:42766851	Likely pathogenic	Osteogenesis imperfecta type 8	Criteria Provided Single Submitter			1 SubmittersRCV005015938
NM_022356.4(P3H1):c.1720+1G>T	SNV Germline	Chr1:42750185	Likely pathogenic	Osteogenesis imperfecta type 8	Criteria Provided Single Submitter			1 SubmittersRCV005148910
NM_022356.4(P3H1):c.912T>G (p.Tyr304Ter)	SNV Germline	Chr1:42758880	Likely pathogenic	Osteogenesis imperfecta type 8	Criteria Provided Single Submitter			1 SubmittersRCV005365746
NM_022356.4(P3H1):c.1345G>C (p.Gly449Arg)	SNV Germline	Chr1:42754869	Likely pathogenic	Osteogenesis imperfecta	Criteria Provided Single Submitter			1 SubmittersRCV005408183

NM_022356.4(P3H1):c.1080+1G>T

SNV
Germline

Chr1:42757782

Pathogenic

Osteogenesis imperfecta type 8
Condition: not provided
Osteogenesis imperfecta
P3H1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA212756

rs_72659351

12 SubmittersRCV000001315 RCV000255762 RCV002276526 RCV003914795

NM_022356.4(P3H1):c.1473+1G>T

SNV
Germline

Chr1:42752536

Pathogenic

Osteogenesis imperfecta type 8

No Assertion Criteria Provided

CA212757

rs_72659354

1 SubmittersRCV000001316

NM_022356.4(P3H1):c.1656C>A (p.Tyr552Ter)

SNV
Germline

Chr1:42750250

Pathogenic

Osteogenesis imperfecta type 8

Criteria Provided
Single Submitter

CA114880

rs_72659355

2 SubmittersRCV000001318

NM_022356.4(P3H1):c.1102C>T (p.Arg368Ter)

SNV
Germline

Chr1:42755616

Pathogenic

Osteogenesis imperfecta type 8
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA114888

rs_118203996

4 SubmittersRCV000001320 RCV000224137

NM_022356.4(P3H1):c.2055+18G>A

SNV
Germline

Chr1:42747254

Pathogenic/Likely pathogenic

Osteogenesis imperfecta type 8
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA212759

rs_137853890

5 SubmittersRCV000001321 RCV003153292

NM_022356.4(P3H1):c.1170+9G>A

SNV
Germline

Chr1:42755539

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA235745

rs_786205443

1 SubmittersRCV000171152

NM_022356.4(P3H1):c.2152C>G (p.Pro718Ala)

SNV
Germline

Chr1:42746756

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis Imperfecta, Recessive
Osteogenesis imperfecta type 8
P3H1-related disorder

Criteria Provided
Conflicting Classifications

CA240595

rs_533729683

5 SubmittersRCV000724099 RCV001097676 RCV001078667 RCV003917620

NM_022356.4(P3H1):c.756C>T (p.Tyr252=)

SNV
Germline

Chr1:42759253

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta type 8

Criteria Provided
Conflicting Classifications

CA243483

rs_770943260

3 SubmittersRCV000177330 RCV002054089

NM_022356.4(P3H1):c.852G>A (p.Thr284=)

SNV
Germline

Chr1:42758940

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta type 8

Criteria Provided
Conflicting Classifications

CA245405

rs_765846480

2 SubmittersRCV000178336 RCV001343505

NM_022356.4(P3H1):c.392C>A (p.Ser131Ter)

SNV
Germline

Chr1:42766580

Pathogenic/Likely pathogenic

Condition: not provided
Osteogenesis imperfecta type 8

Criteria Provided
Multiple Submitters
No Conflicts

CA10588294

rs_72659347

3 SubmittersRCV000254851 RCV003495125

NM_022356.4(P3H1):c.1569+1G>A

SNV
Germline

Chr1:42752273

Pathogenic/Likely pathogenic

Condition: not provided
Osteogenesis imperfecta type 8

Criteria Provided
Multiple Submitters
No Conflicts

CA801797

rs_369651701

2 SubmittersRCV000395246 RCV003600372

NM_022356.4(P3H1):c.1721-4C>T

SNV
Germline

Chr1:42748321

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta type 8
P3H1-related disorder

Criteria Provided
Conflicting Classifications

CA801706

rs_200901466

4 SubmittersRCV000345547 RCV001084404 RCV003977737

NM_022356.4(P3H1):c.1322A>G (p.Asp441Gly)

SNV
Germline

Chr1:42754892

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Osteogenesis imperfecta type 8
Osteogenesis imperfecta
P3H1-related disorder

Criteria Provided
Conflicting Classifications

CA801884

rs_113593896

10 SubmittersRCV000402019 RCV000487953 RCV001079324 RCV002278278 RCV003982984

NM_022356.4(P3H1):c.1346-1G>C

SNV
Germline

Chr1:42752665

Pathogenic

Condition: not provided
Osteogenesis imperfecta type 8

Criteria Provided
Multiple Submitters
No Conflicts

CA10604830

rs_886042897

6 SubmittersRCV000360614 RCV001036322

NM_022356.4(P3H1):c.2164C>A (p.Gln722Lys)

SNV
Germline

Chr1:42746744

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta type 8
not specified

Criteria Provided
Conflicting Classifications

CA801502

rs_771006240

5 SubmittersRCV000354246 RCV000810347 RCV002307480

NM_022356.4(P3H1):c.1221G>A (p.Gln407=)

SNV
Germline

Chr1:42755167

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta type 8

Criteria Provided
Conflicting Classifications

CA10606008

rs_886043833

3 SubmittersRCV000359884 RCV005090380

NM_022356.4(P3H1):c.1529A>G (p.Asn510Ser)

SNV
Germline

Chr1:42752314

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Osteogenesis imperfecta type 8
P3H1-related disorder

Criteria Provided
Conflicting Classifications

CA801807

rs_149894086

5 SubmittersRCV000381836 RCV000756458 RCV002059256 RCV003910018

NM_022356.4(P3H1):c.1068C>T (p.Ile356=)

SNV
Germline

Chr1:42757795

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta type 8

Criteria Provided
Conflicting Classifications

CA801993

rs_373669933

2 SubmittersRCV000269043 RCV002519352

NM_022356.4(P3H1):c.1120G>T (p.Glu374Ter)

SNV
Germline

Chr1:42755598

Pathogenic/Likely pathogenic

Condition: not provided
Osteogenesis imperfecta type 8

Criteria Provided
Multiple Submitters
No Conflicts

CA801964

rs_140468248

5 SubmittersRCV000369412 RCV003454835

NM_022356.4(P3H1):c.1A>G (p.Met1Val)

SNV
Germline

Chr1:42766971

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA16042395

rs_761033636

1 SubmittersRCV000412937

NM_022356.4(P3H1):c.1473+5G>T

SNV
Germline

Chr1:42752532

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Osteogenesis imperfecta type 8
Osteogenesis Imperfecta, Recessive

Criteria Provided
Conflicting Classifications

CA801839

rs_114044880

4 SubmittersRCV000423443 RCV000766765 RCV001087130 RCV001097774

NM_022356.4(P3H1):c.1233G>A (p.Arg411=)

SNV
Germline

Chr1:42754981

Conflicting classifications of pathogenicity

not specified
Osteogenesis imperfecta type 8
Osteogenesis Imperfecta, Recessive
Osteogenesis imperfecta

Criteria Provided
Conflicting Classifications

CA801902

rs_61746653

5 SubmittersRCV000424568 RCV000543025 RCV001099569 RCV002278661

NM_022356.4(P3H1):c.1026C>T (p.Ala342=)

SNV
Germline

Chr1:42757837

Conflicting classifications of pathogenicity

not specified
Osteogenesis imperfecta type 8
Osteogenesis Imperfecta, Recessive
Osteogenesis imperfecta

Criteria Provided
Conflicting Classifications

CA801999

rs_61100157

5 SubmittersRCV000440114 RCV001001470 RCV001101549 RCV002278665

NM_022356.4(P3H1):c.139G>T (p.Ala47Ser)

SNV
Germline

Chr1:42766833

Conflicting classifications of pathogenicity

not specified
Osteogenesis imperfecta type 8
Osteogenesis Imperfecta, Recessive
Osteogenesis imperfecta

Criteria Provided
Conflicting Classifications

CA802228

rs_55716016

5 SubmittersRCV000432456 RCV000551291 RCV001097863 RCV002278659

NM_022356.4(P3H1):c.-45C>T

SNV
Germline

Chr1:42767016

Conflicting classifications of pathogenicity

not specified
Osteogenesis Imperfecta, Recessive

Criteria Provided
Conflicting Classifications

CA802265

rs_183564323

2 SubmittersRCV000423335 RCV001099662

NM_022356.4(P3H1):c.1812C>T (p.Pro604=)

SNV
Germline

Chr1:42748226

Conflicting classifications of pathogenicity

not specified
Osteogenesis Imperfecta, Recessive
Osteogenesis imperfecta type 8
Osteogenesis imperfecta

Criteria Provided
Conflicting Classifications

CA801693

rs_34809608

5 SubmittersRCV000442874 RCV001099457 RCV001001467 RCV002278668

NM_022356.4(P3H1):c.1569+3A>G

SNV
Germline

Chr1:42752271

Conflicting classifications of pathogenicity

not specified
Osteogenesis imperfecta type 8
Osteogenesis Imperfecta, Recessive
Osteogenesis imperfecta

Criteria Provided
Conflicting Classifications

CA801796

rs_76871760

5 SubmittersRCV000433949 RCV001001468 RCV001095992 RCV002278667

NM_022356.4(P3H1):c.1045G>A (p.Gly349Arg)

SNV
Germline

Chr1:42757818

Conflicting classifications of pathogenicity

not specified
Osteogenesis imperfecta type 8
Osteogenesis Imperfecta, Recessive

Criteria Provided
Conflicting Classifications

CA801996

rs_6700677

5 SubmittersRCV000443398 RCV000532565 RCV001101548

NM_022356.4(P3H1):c.1647G>A (p.Met549Ile)

SNV
Germline

Chr1:42750259

Conflicting classifications of pathogenicity

not specified
Osteogenesis imperfecta type 8
Osteogenesis Imperfecta, Recessive

Criteria Provided
Conflicting Classifications

CA801749

rs_11581921

3 SubmittersRCV000441888 RCV001095988 RCV001095987

NM_022356.4(P3H1):c.1284C>T (p.Ile428=)

SNV
Germline

Chr1:42754930

Conflicting classifications of pathogenicity

not specified
Osteogenesis imperfecta type 8
Osteogenesis Imperfecta, Recessive
Osteogenesis imperfecta

Criteria Provided
Conflicting Classifications

CA801893

rs_61746642

5 SubmittersRCV000422896 RCV001001469 RCV001099567 RCV002278666

NM_022356.4(P3H1):c.1504G>C (p.Gly502Arg)

SNV
Germline

Chr1:42752339

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta type 8
Osteogenesis Imperfecta, Recessive
not specified

Criteria Provided
Conflicting Classifications

CA801813

rs_139259804

7 SubmittersRCV000489750 RCV000538652 RCV001097772 RCV005407150

NM_022356.4(P3H1):c.1626G>A (p.Thr542=)

SNV
Germline

Chr1:42750280

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type 8
Osteogenesis Imperfecta, Recessive
Condition: not provided
Osteogenesis imperfecta

Criteria Provided
Conflicting Classifications

CA801754

rs_577059613

5 SubmittersRCV000541733 RCV001095990 RCV001546295 RCV002279351

NM_022356.4(P3H1):c.1428C>T (p.Gly476=)

SNV
Germline

Chr1:42752582

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type 8
Osteogenesis Imperfecta, Recessive
Osteogenesis imperfecta
P3H1-related disorder

Criteria Provided
Conflicting Classifications

CA801849

rs_141786883

4 SubmittersRCV000535611 RCV001097776 RCV002279350 RCV003925666

NM_022356.4(P3H1):c.978C>T (p.Thr326=)

SNV
Germline

Chr1:42757885

Conflicting classifications of pathogenicity

not specified
Osteogenesis imperfecta type 8
Osteogenesis Imperfecta, Recessive
Osteogenesis imperfecta

Criteria Provided
Conflicting Classifications

CA802006

rs_74070022

5 SubmittersRCV000610741 RCV001000260 RCV001096106 RCV002279356

NM_022356.4(P3H1):c.1720+4G>A

SNV
Germline

Chr1:42750182

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type 8
Osteogenesis Imperfecta, Recessive
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA801728

rs_371232413

4 SubmittersRCV000542489 RCV001101451 RCV001722499 RCV005435013

NM_022356.4(P3H1):c.693G>A (p.Ala231=)

SNV
Germline

Chr1:42759316

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type 8
not specified
Osteogenesis Imperfecta, Recessive

Criteria Provided
Conflicting Classifications

CA802094

rs_149113630

3 SubmittersRCV000532202 RCV000605499 RCV001096110

NM_022356.4(P3H1):c.1930C>A (p.Gln644Lys)

SNV
Germline

Chr1:42747397

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type 8
Osteogenesis Imperfecta, Recessive
Condition: not provided

Criteria Provided
Conflicting Classifications

CA801637

rs_3738497

3 SubmittersRCV000547688 RCV001099454 RCV001539895

NM_022356.4(P3H1):c.2147G>C (p.Gly716Ala)

SNV
Germline

Chr1:42746761

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta type 8
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA801513

rs_573577299

4 SubmittersRCV000524616 RCV001424689 RCV003330780 RCV005384768

NM_022356.4(P3H1):c.1838+9G>A

SNV
Germline

Chr1:42748191

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type 8
Osteogenesis imperfecta

Criteria Provided
Conflicting Classifications

CA801681

rs_374946028

3 SubmittersRCV000559453 RCV002279354

NM_022356.4(P3H1):c.611C>A (p.Pro204His)

SNV
Germline

Chr1:42762330

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type 8
not specified
Osteogenesis Imperfecta, Recessive
Condition: not provided
Osteogenesis imperfecta

Criteria Provided
Conflicting Classifications

CA802142

rs_77208721

7 SubmittersRCV000999909 RCV000610522 RCV001096112 RCV001573726 RCV002279355

NM_022356.4(P3H1):c.327C>T (p.Phe109=)

SNV
Germline

Chr1:42766645

Conflicting classifications of pathogenicity

not specified
Osteogenesis imperfecta type 8
Osteogenesis Imperfecta, Recessive

Criteria Provided
Conflicting Classifications

CA802204

rs_370773974

3 SubmittersRCV000597753 RCV000876592 RCV001097862

NM_022356.4(P3H1):c.1501C>T (p.Arg501Trp)

SNV
Germline

Chr1:42752342

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type 8
Osteogenesis Imperfecta, Recessive
Condition: not provided
P3H1-related disorder

Criteria Provided
Conflicting Classifications

CA801815

rs_115108794

5 SubmittersRCV000645494 RCV001097773 RCV001672913 RCV003905744

NM_022356.4(P3H1):c.830A>G (p.Asn277Ser)

SNV
Germline

Chr1:42758962

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type 8
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA802052

rs_200403014

2 SubmittersRCV000645490 RCV005453048

NM_022356.4(P3H1):c.1620C>T (p.Asn540=)

SNV
Germline

Chr1:42750286

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type 8
Osteogenesis Imperfecta, Recessive
P3H1-related disorder

Criteria Provided
Conflicting Classifications

CA801758

rs_140334418

3 SubmittersRCV000645492 RCV001095991 RCV003953154

NM_022356.4(P3H1):c.81G>C (p.Glu27Asp)

SNV
Germline

Chr1:42766891

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type 8
Condition: not provided
Osteogenesis Imperfecta, Recessive
Osteogenesis imperfecta

Criteria Provided
Conflicting Classifications

CA802238

rs_201750444

4 SubmittersRCV000645496 RCV001731837 RCV001097864 RCV002279466

NM_022356.4(P3H1):c.1222A>T (p.Lys408Ter)

SNV
Germline

Chr1:42755166

Pathogenic

Osteogenesis imperfecta type 8

Criteria Provided
Single Submitter

CA339957967

rs_1557569037

1 SubmittersRCV000686866

NM_022356.4(P3H1):c.1171-2A>T

SNV
Germline

Chr1:42755219

Likely pathogenic

Osteogenesis imperfecta type 8

Criteria Provided
Single Submitter

CA339958158

rs_1013320485

1 SubmittersRCV000692569

NM_022356.4(P3H1):c.940+1G>T

SNV
Germline

Chr1:42758851

Likely pathogenic

Osteogenesis imperfecta type 8

Criteria Provided
Single Submitter

CA802028

rs_762525651

1 SubmittersRCV000686871

NM_022356.4(P3H1):c.2041C>T (p.Arg681Ter)

SNV
Germline

Chr1:42747286

Pathogenic/Likely pathogenic

Osteogenesis Imperfecta, Recessive
Osteogenesis imperfecta type 8

Criteria Provided
Multiple Submitters
No Conflicts

CA21241339

rs_72659356

5 SubmittersRCV000778981 RCV002487599

NM_022356.4(P3H1):c.874C>T (p.Arg292Ter)

SNV
Germline

Chr1:42758918

Pathogenic/Likely pathogenic

Osteogenesis imperfecta type 8

Criteria Provided
Multiple Submitters
No Conflicts

CA802049

rs_773269078

2 SubmittersRCV001869131

NM_022356.4(P3H1):c.541C>T (p.Gln181Ter)

SNV
Germline

Chr1:42762400

Pathogenic

Osteogenesis imperfecta

Criteria Provided
Single Submitter

CA339962137

rs_1570479611

1 SubmittersRCV000790419

NM_022356.4(P3H1):c.232C>T (p.Gln78Ter)

SNV
Germline

Chr1:42766740

Pathogenic

Osteogenesis imperfecta type 8
Osteogenesis imperfecta

Criteria Provided
Single Submitter

CA339963868

rs_1330779100

2 SubmittersRCV000786860 RCV004579563

NM_022356.4(P3H1):c.1459C>T (p.Gln487Ter)

SNV
Germline

Chr1:42752551

Pathogenic

Osteogenesis imperfecta type 8

Criteria Provided
Single Submitter

CA339955969

rs_1229143002

1 SubmittersRCV000822886

NM_022356.4(P3H1):c.1060A>T (p.Arg354Ter)

SNV
Germline

Chr1:42757803

Pathogenic

Osteogenesis imperfecta type 8

Criteria Provided
Single Submitter

CA339958779

rs_1570472113

1 SubmittersRCV000811339

NM_022356.4(P3H1):c.1795G>A (p.Val599Met)

SNV
Germline

Chr1:42748243

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type 8
Condition: not provided
Inborn genetic diseases
P3H1-related disorder

Criteria Provided
Conflicting Classifications

CA801698

rs_140254470

4 SubmittersRCV000876554 RCV001535008 RCV002540006 RCV003920455

NM_022356.4(P3H1):c.1215G>A (p.Glu405=)

SNV
Germline

Chr1:42755173

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type 8
Osteogenesis imperfecta

Criteria Provided
Conflicting Classifications

CA801933

rs_527679322

4 SubmittersRCV000877300 RCV002279591

NM_022356.4(P3H1):c.194G>A (p.Arg65Gln)

SNV
Germline

Chr1:42766778

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type 8
Condition: not provided
Inborn genetic diseases
P3H1-related disorder

Criteria Provided
Conflicting Classifications

CA802217

rs_372710498

4 SubmittersRCV000876555 RCV001556317 RCV002540007 RCV003955744

NM_022356.4(P3H1):c.1226C>G (p.Ser409Ter)

SNV
Germline

Chr1:42754988

Pathogenic

Osteogenesis imperfecta type 8

Criteria Provided
Single Submitter

CA339957920

rs_1652311421

1 SubmittersRCV001067198

NM_022356.4(P3H1):c.1170+6C>G

SNV
Germline

Chr1:42755542

Likely pathogenic

Osteogenesis imperfecta type 8

Criteria Provided
Single Submitter

CA916081286

rs_1652352034

1 SubmittersRCV001036321

NM_022356.4(P3H1):c.*77C>T

SNV
Germline

Chr1:42746620

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type 8
Osteogenesis Imperfecta, Recessive
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10669993

rs_13871

2 SubmittersRCV001095901 RCV001095900 RCV001644915

NM_022356.4(P3H1):c.2100A>G (p.Pro700=)

SNV
Germline

Chr1:42746808

Conflicting classifications of pathogenicity

Osteogenesis Imperfecta, Recessive
Osteogenesis imperfecta type 8

Criteria Provided
Conflicting Classifications

CA801524

rs_372711844

2 SubmittersRCV001097678 RCV001456816

NM_022356.4(P3H1):c.1944C>T (p.Ala648=)

SNV
Germline

Chr1:42747383

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type 8
P3H1-related disorder

Criteria Provided
Conflicting Classifications

CA801635

rs_760909376

3 SubmittersRCV001099453 RCV004726882

NM_022356.4(P3H1):c.1686C>T (p.Ser562=)

SNV
Germline

Chr1:42750220

Conflicting classifications of pathogenicity

Osteogenesis Imperfecta, Recessive
Osteogenesis imperfecta type 8

Criteria Provided
Conflicting Classifications

CA801740

rs_747701845

2 SubmittersRCV001101452 RCV003495232

NM_022356.4(P3H1):c.1086C>T (p.Ala362=)

SNV
Germline

Chr1:42755632

Conflicting classifications of pathogenicity

Osteogenesis Imperfecta, Recessive
Osteogenesis imperfecta type 8

Criteria Provided
Conflicting Classifications

CA21244131

rs_777090883

3 SubmittersRCV001101546 RCV001287271

NM_022356.4(P3H1):c.69G>A (p.Glu23=)

SNV
Germline

Chr1:42766903

Conflicting classifications of pathogenicity

Osteogenesis Imperfecta, Recessive
Osteogenesis imperfecta type 8

Criteria Provided
Conflicting Classifications

CA417397185

rs_1237398609

2 SubmittersRCV001099659 RCV003600399

NM_022356.4(P3H1):c.-57G>T

SNV
Germline

Chr1:42767028

Conflicting classifications of pathogenicity

Osteogenesis Imperfecta, Recessive
Osteogenesis imperfecta type 8

Criteria Provided
Conflicting Classifications

CA21251915

rs_190782130

1 SubmittersRCV001099663 RCV001099664

NM_022356.4(P3H1):c.619-11C>T

SNV
Germline

Chr1:42759401

Conflicting classifications of pathogenicity

Osteogenesis Imperfecta, Recessive
Osteogenesis imperfecta type 8

Criteria Provided
Conflicting Classifications

CA802111

rs_202219307

2 SubmittersRCV001096111 RCV002069623

NM_022356.4(P3H1):c.1839-2A>C

SNV
Germline

Chr1:42747800

Pathogenic/Likely pathogenic

Osteogenesis imperfecta type 8

Criteria Provided
Multiple Submitters
No Conflicts

CA801666

rs_755665899

3 SubmittersRCV001261598

NM_022356.4(P3H1):c.664C>T (p.Gln222Ter)

SNV
Germline

Chr1:42759345

Pathogenic

Osteogenesis imperfecta type 8

Criteria Provided
Multiple Submitters
No Conflicts

CA339960201

rs_1214987088

2 SubmittersRCV001287330

NM_022356.4(P3H1):c.628C>T (p.Arg210Ter)

SNV
Germline

Chr1:42759381

Pathogenic

Osteogenesis imperfecta type 8

Criteria Provided
Single Submitter

CA802108

rs_137853950

1 SubmittersRCV003497294

NM_022356.4(P3H1):c.1170+5G>C

SNV
Germline

Chr1:42755543

Pathogenic/Likely pathogenic

Osteogenesis imperfecta type 8
P3H1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA801951

rs_72659353

3 SubmittersRCV001371301 RCV003405619

NM_022356.4(P3H1):c.838C>T (p.Gln280Ter)

SNV
Germline

Chr1:42758954

Pathogenic

Osteogenesis imperfecta type 8
P3H1-related disorder
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA339959549

rs_1652551021

6 SubmittersRCV001390265 RCV003394025 RCV003154031

NM_022356.4(P3H1):c.1531G>T (p.Glu511Ter)

SNV
Germline

Chr1:42752312

Pathogenic

Osteogenesis imperfecta type 8

Criteria Provided
Single Submitter

CA801805

rs_773832238

1 SubmittersRCV003600830

NM_022356.4(P3H1):c.1408C>T (p.Gln470Ter)

SNV
Germline

Chr1:42752602

Pathogenic

Osteogenesis imperfecta type 8

Criteria Provided
Single Submitter

CA801859

rs_757634052

1 SubmittersRCV003820402

NM_022356.4(P3H1):c.1345+1G>A

SNV
Germline

Chr1:42754868

Likely pathogenic

Osteogenesis imperfecta type 8

Criteria Provided
Multiple Submitters
No Conflicts

CA801880

rs_780595278

2 SubmittersRCV002024402

NM_022356.4(P3H1):c.652G>T (p.Glu218Ter)

SNV
Germline

Chr1:42759357

Pathogenic

Osteogenesis imperfecta type 8

Criteria Provided
Multiple Submitters
No Conflicts

CA339960267

rs_2124142972

2 SubmittersRCV001933024

NM_022356.4(P3H1):c.765C>A (p.Tyr255Ter)

SNV
Germline

Chr1:42759244

Pathogenic

Osteogenesis imperfecta type 8

Criteria Provided
Single Submitter

CA802083

rs_72659349

1 SubmittersRCV001940990

NM_022356.4(P3H1):c.941-1G>A

SNV
Germline

Chr1:42757923

Likely pathogenic

Osteogenesis imperfecta type 8

Criteria Provided
Single Submitter

CA802014

rs_778209371

1 SubmittersRCV001990923

NM_022356.4(P3H1):c.933C>G (p.Tyr311Ter)

SNV
Germline

Chr1:42758859

Pathogenic

Osteogenesis imperfecta type 8

Criteria Provided
Single Submitter

CA21245248

rs_72659350

1 SubmittersRCV001895766

NM_022356.4(P3H1):c.1915-1G>A

SNV
Germline

Chr1:42747413

Pathogenic/Likely pathogenic

Osteogenesis imperfecta type 8

Criteria Provided
Multiple Submitters
No Conflicts

CA339953200

rs_2124077667

4 SubmittersRCV002030594

NM_022356.4(P3H1):c.1223+2T>C

SNV
Germline

Chr1:42755163

Pathogenic

Osteogenesis imperfecta type 8

Criteria Provided
Single Submitter

CA339957956

rs_2124122351

1 SubmittersRCV001951372

NM_022356.4(P3H1):c.2055+1G>A

SNV
Germline

Chr1:42747271

Pathogenic

Osteogenesis imperfecta type 8

Criteria Provided
Single Submitter

CA339952233

rs_2124076040

1 SubmittersRCV001930947

NM_022356.4(P3H1):c.2143C>T (p.Gln715Ter)

SNV
Germline

Chr1:42746765

Pathogenic

Osteogenesis imperfecta type 8

Criteria Provided
Multiple Submitters
No Conflicts

CA339950536

rs_2124072579

2 SubmittersRCV002254405

NM_022356.4(P3H1):c.1096C>T (p.Arg366Ter)

SNV
Germline

Chr1:42755622

Pathogenic/Likely pathogenic

Osteogenesis imperfecta
Osteogenesis imperfecta type 8

Criteria Provided
Multiple Submitters
No Conflicts

CA801967

rs_752575140

3 SubmittersRCV002277816 RCV003096240

NM_022356.4(P3H1):c.2154C>T (p.Pro718=)

SNV
Germline

Chr1:42746754

Conflicting classifications of pathogenicity

Osteogenesis imperfecta
Osteogenesis imperfecta type 8

Criteria Provided
Conflicting Classifications

CA801506

rs_775626323

2 SubmittersRCV002277822 RCV003495270

NM_022356.4(P3H1):c.1224-79G>A

SNV
Germline

Chr1:42755069

Likely pathogenic

Osteogenesis imperfecta type 8

Criteria Provided
Single Submitter

CA2580062792

rs_2524451273

1 SubmittersRCV002302845

NM_022356.4(P3H1):c.438C>A (p.Tyr146Ter)

SNV
Germline

Chr1:42766534

Pathogenic

Osteogenesis imperfecta type 8

Criteria Provided
Single Submitter

CA21251366

rs_967101692

1 SubmittersRCV003091843

NM_022356.4(P3H1):c.922C>T (p.Gln308Ter)

SNV
Germline

Chr1:42758870

Pathogenic

Osteogenesis imperfecta type 8

Criteria Provided
Single Submitter

CA339959361

rs_2524469917

1 SubmittersRCV002889981

NM_022356.4(P3H1):c.62A>G (p.Gln21Arg)

SNV
Germline

Chr1:42766910

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type 8
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA802241

rs_369450623

2 SubmittersRCV002895569 RCV002917512

NM_022356.4(P3H1):c.1873G>A (p.Gly625Arg)

SNV
Germline

Chr1:42747764

Pathogenic/Likely pathogenic

Osteogenesis imperfecta type 8
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA339953433

rs_1651811244

3 SubmittersRCV003123572 RCV005602018

NM_022356.4(P3H1):c.640C>T (p.Arg214Ter)

SNV
Germline

Chr1:42759369

Pathogenic

Osteogenesis imperfecta type 8
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA802105

rs_200899260

3 SubmittersRCV003123573 RCV005602019

NM_022356.4(P3H1):c.2055+86A>G

SNV
Germline

Chr1:42747186

Likely pathogenic

Condition: not provided
Osteogenesis imperfecta type 8

Criteria Provided
Multiple Submitters
No Conflicts

CA339951938

rs_2524398325

3 SubmittersRCV003314873 RCV003322940

NM_022356.4(P3H1):c.1345G>A (p.Gly449Ser)

SNV
Germline

Chr1:42754869

Conflicting classifications of pathogenicity

not specified
Osteogenesis imperfecta type 8

Criteria Provided
Conflicting Classifications

CA339957366

rs_2524449692

2 SubmittersRCV003324224 RCV003495331

NM_022356.4(P3H1):c.951T>A (p.Tyr317Ter)

SNV
Germline

Chr1:42757912

Pathogenic

Osteogenesis imperfecta type 8

Criteria Provided
Single Submitter

CA339959091

rs_758079491

1 SubmittersRCV003496184

NM_022356.4(P3H1):c.2164C>T (p.Gln722Ter)

SNV
Germline

Chr1:42746744

Pathogenic/Likely pathogenic

Osteogenesis imperfecta type 8

Criteria Provided
Multiple Submitters
No Conflicts

CA339950374

rs_771006240

2 SubmittersRCV003494624

NM_022356.4(P3H1):c.1914+1G>A

SNV
Germline

Chr1:42747722

Pathogenic

Osteogenesis imperfecta type 8

Criteria Provided
Multiple Submitters
No Conflicts

CA339953257

rs_1226013247

2 SubmittersRCV003494626

NM_022356.4(P3H1):c.1223+2T>G

SNV
Germline

Chr1:42755163

Pathogenic

Osteogenesis imperfecta type 8

Criteria Provided
Single Submitter

CA339957955

rs_2124122351

1 SubmittersRCV003494627

NM_022356.4(P3H1):c.941-2A>T

SNV
Germline

Chr1:42757924

Likely pathogenic

Osteogenesis imperfecta type 8

Criteria Provided
Single Submitter

CA339959116

rs_1194444860

1 SubmittersRCV003494808

NM_022356.4(P3H1):c.1170+2T>C

SNV
Germline

Chr1:42755546

Likely pathogenic

Osteogenesis imperfecta type 8

Criteria Provided
Single Submitter

CA339958182

rs_72659352

1 SubmittersRCV003495030

NM_022356.4(P3H1):c.448C>T (p.Gln150Ter)

SNV
Germline

Chr1:42766524

Pathogenic

Osteogenesis imperfecta type 8

Criteria Provided
Single Submitter

CA339963411

rs_1383503951

1 SubmittersRCV003495715

NM_022356.4(P3H1):c.1316C>G (p.Ser439Ter)

SNV
Germline

Chr1:42754898

Pathogenic

Osteogenesis imperfecta type 8

Criteria Provided
Single Submitter

CA339957504

rs_2524449933

1 SubmittersRCV003600596

NM_022356.4(P3H1):c.955C>T (p.Gln319Ter)

SNV
Germline

Chr1:42757908

Pathogenic

Osteogenesis imperfecta type 8

Criteria Provided
Single Submitter

CA339959083

rs_1326693946

1 SubmittersRCV003601543

NM_022356.4(P3H1):c.1051G>T (p.Glu351Ter)

SNV
Germline

Chr1:42757812

Pathogenic/Likely pathogenic

Osteogenesis imperfecta type 8

Criteria Provided
Multiple Submitters
No Conflicts

CA339958809

rs_2124135089

2 SubmittersRCV003601802

NM_022356.4(P3H1):c.1474-1G>A

SNV
Germline

Chr1:42752370

Likely pathogenic

Osteogenesis imperfecta type 8

Criteria Provided
Multiple Submitters
No Conflicts

CA339955835

rs_1652152909

2 SubmittersRCV003601734

NM_022356.4(P3H1):c.1090G>T (p.Glu364Ter)

SNV
Germline

Chr1:42755628

Pathogenic

Osteogenesis imperfecta type 8

Criteria Provided
Single Submitter

CA339958416

rs_2524456560

1 SubmittersRCV003602171

NM_022356.4(P3H1):c.1224-2A>G

SNV
Germline

Chr1:42754992

Likely pathogenic

Osteogenesis imperfecta type 8

Criteria Provided
Single Submitter

CA339957935

rs_2524450808

1 SubmittersRCV003602088

NM_022356.4(P3H1):c.1346-1G>A

SNV
Germline

Chr1:42752665

Pathogenic

Osteogenesis imperfecta type 8

Criteria Provided
Single Submitter

CA339956619

rs_886042897

1 SubmittersRCV003602322

NM_022356.4(P3H1):c.739G>T (p.Glu247Ter)

SNV
Germline

Chr1:42759270

Pathogenic

Osteogenesis imperfecta type 8

Criteria Provided
Single Submitter

CA339959860

rs_760265361

1 SubmittersRCV003601182

NM_022356.4(P3H1):c.809-1G>A

SNV
Germline

Chr1:42758984

Likely pathogenic

Osteogenesis imperfecta type 8

Criteria Provided
Single Submitter

CA339959620

rs_758415465

1 SubmittersRCV003601119

NM_022356.4(P3H1):c.273G>A (p.Trp91Ter)

SNV
Germline

Chr1:42766699

Pathogenic

Osteogenesis imperfecta type 8

Criteria Provided
Single Submitter

CA339963774

rs_1481553944

1 SubmittersRCV003836467

NM_022356.4(P3H1):c.1914+2T>C

SNV
Germline

Chr1:42747721

Likely pathogenic

Osteogenesis imperfecta type 8

Criteria Provided
Single Submitter

CA339953253

rs_1306034404

1 SubmittersRCV003857370

NM_022356.4(P3H1):c.2024G>A (p.Trp675Ter)

SNV
Germline

Chr1:42747303

Pathogenic/Likely pathogenic

Osteogenesis imperfecta type 8

Criteria Provided
Multiple Submitters
No Conflicts

CA339952482

rs_1226770904

2 SubmittersRCV003874384

NM_022356.4(P3H1):c.1720+1G>A

SNV
Germline

Chr1:42750185

Likely pathogenic

Osteogenesis imperfecta type 8

Criteria Provided
Single Submitter

CA339954677

rs_2524418358

1 SubmittersRCV003874804

NM_022356.4(P3H1):c.2065C>T (p.Gln689Ter)

SNV
Germline

Chr1:42746843

Likely pathogenic

Osteogenesis imperfecta type 8

Criteria Provided
Single Submitter

1 SubmittersRCV004720655

NM_022356.4(P3H1):c.1474-2A>G

SNV
Germline

Chr1:42752371

Likely pathogenic

Osteogenesis imperfecta type 8

Criteria Provided
Single Submitter

1 SubmittersRCV004797556

NM_022356.4(P3H1):c.2002C>T (p.Gln668Ter)

SNV
Germline

Chr1:42747325

Likely pathogenic

Osteogenesis imperfecta type 8

Criteria Provided
Single Submitter

1 SubmittersRCV005015860

NM_022356.4(P3H1):c.618+1G>A

SNV
Germline

Chr1:42762322

Likely pathogenic

Osteogenesis imperfecta type 8

Criteria Provided
Single Submitter

1 SubmittersRCV005028732

NM_022356.4(P3H1):c.465+2T>G

SNV
Germline

Chr1:42766505

Likely pathogenic

Osteogenesis imperfecta type 8

Criteria Provided
Single Submitter

1 SubmittersRCV005015927

NM_022356.4(P3H1):c.121G>T (p.Glu41Ter)

SNV
Germline

Chr1:42766851

Likely pathogenic

Osteogenesis imperfecta type 8

Criteria Provided
Single Submitter

1 SubmittersRCV005015938

NM_022356.4(P3H1):c.1720+1G>T

SNV
Germline

Chr1:42750185

Likely pathogenic

Osteogenesis imperfecta type 8

Criteria Provided
Single Submitter

1 SubmittersRCV005148910

NM_022356.4(P3H1):c.912T>G (p.Tyr304Ter)

SNV
Germline

Chr1:42758880

Likely pathogenic

Osteogenesis imperfecta type 8

Criteria Provided
Single Submitter

1 SubmittersRCV005365746

NM_022356.4(P3H1):c.1345G>C (p.Gly449Arg)

SNV
Germline

Chr1:42754869

Likely pathogenic

Osteogenesis imperfecta

Criteria Provided
Single Submitter

1 SubmittersRCV005408183