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 Osteogenesis imperfecta type III	Criteria Provided Multiple Submitters No Conflicts	CA212756	rs_72659351	13 SubmittersRCV000001315 RCV000255762 RCV002276526 RCV003914795 RCV005864433
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_006371.5(CRTAP):c.472-1021C>G	SNV Germline	Chr3:33119323	Likely pathogenic	Osteogenesis imperfecta type 7 CRTAP-related disorder	Criteria Provided Single Submitter	CA72702931	rs_72659360	2 SubmittersRCV000005235 RCV003407276
NM_006371.5(CRTAP):c.471+1G>C	SNV Germline	Chr3:33114549	Pathogenic	Osteogenesis imperfecta type 7	No Assertion Criteria Provided	CA72699845	rs_72659359	1 SubmittersRCV000005237
NM_006371.5(CRTAP):c.826C>T (p.Gln276Ter)	SNV Germline	Chr3:33129971	Pathogenic	Osteogenesis imperfecta type 7 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA117150	rs_72659361	7 SubmittersRCV000005238 RCV001269605
NM_006371.5(CRTAP):c.3G>A (p.Met1Ile)	SNV Germline	Chr3:33114080	Pathogenic/Likely pathogenic	Osteogenesis imperfecta type 7 Osteogenesis imperfecta	Criteria Provided Multiple Submitters No Conflicts	CA117153	rs_72659357	3 SubmittersRCV000005239 RCV002468961
NM_002335.4(LRP5):c.1708C>T (p.Arg570Trp)	SNV Germline	Chr11:68403606	Conflicting classifications of pathogenicity	Osteoporosis with pseudoglioma Condition: not provided Osteogenesis imperfecta	Criteria Provided Conflicting Classifications	CA118090	rs_121908665	3 SubmittersRCV000006653 RCV001851703 RCV002276534
NM_002335.4(LRP5):c.1999G>A (p.Val667Met)	SNV Germline	Chr11:68406721	Conflicting classifications of pathogenicity	Osteoporosis with pseudoglioma Condition: not provided not specified 8 conditions Osteogenesis imperfecta Retinal dystrophy 6 conditions Disorder of bone	Criteria Provided Conflicting Classifications	CA213422	rs_4988321	18 SubmittersRCV000006654 RCV000086953 RCV000250939 RCV002496286 RCV002276535 RCV004814844 RCV005394129 RCV006268072
NM_000478.6(ALPL):c.881A>C (p.Asp294Ala)	SNV Germline	Chr1:21573683	Pathogenic	Infantile hypophosphatasia Childhood hypophosphatasia Adult hypophosphatasia Condition: not provided Hypophosphatasia Adult hypophosphatasia Infantile hypophosphatasia Childhood hypophosphatasia Osteogenesis imperfecta ALPL-related disorder Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA256921	rs_121918002	18 SubmittersRCV000014650 RCV000014651 RCV000014652 RCV000224505 RCV000589324 RCV002496362 RCV002276545 RCV004549362 RCV006302137
NM_000478.6(ALPL):c.571G>A (p.Glu191Lys)	SNV Germline	Chr1:21564139	Pathogenic/Likely pathogenic	Infantile hypophosphatasia Childhood hypophosphatasia Adult hypophosphatasia Hypophosphatasia Condition: not provided Childhood hypophosphatasia Infantile hypophosphatasia Adult hypophosphatasia Odontohypophosphatasia Inborn genetic diseases Osteogenesis imperfecta See cases ALPL-related disorder Hypophosphatasia Childhood hypophosphatasia Infantile hypophosphatasia Adult hypophosphatasia	Criteria Provided Multiple Submitters No Conflicts	CA256927	rs_121918007	41 SubmittersRCV000014658 RCV000014659 RCV000014660 RCV000207183 RCV000224962 RCV000763300 RCV001250150 RCV002513051 RCV002276546 RCV004584327 RCV004739305 RCV005867756
NM_000478.6(ALPL):c.1001G>A (p.Gly334Asp)	SNV Germline	Chr1:21575736	Pathogenic/Likely pathogenic	Infantile hypophosphatasia Hypophosphatasia Condition: not provided Childhood hypophosphatasia Infantile hypophosphatasia Adult hypophosphatasia Adult hypophosphatasia Osteogenesis imperfecta ALPL-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA256929	rs_121918009	17 SubmittersRCV000014663 RCV000207270 RCV000224376 RCV000763301 RCV000786923 RCV002276547 RCV004549365
NM_000478.6(ALPL):c.407G>A (p.Arg136His)	SNV Germline	Chr1:21563219	Pathogenic/Likely pathogenic	Childhood hypophosphatasia Infantile hypophosphatasia Hypophosphatasia Condition: not provided Adult hypophosphatasia Infantile hypophosphatasia Childhood hypophosphatasia Adult hypophosphatasia Osteogenesis imperfecta Odontohypophosphatasia ALPL-related autosomal recessive hypophosphatasia	Criteria Provided Multiple Submitters No Conflicts	CA256932	rs_121918011	25 SubmittersRCV000014666 RCV000169168 RCV000364426 RCV000767525 RCV000770988 RCV002490366 RCV002276548 RCV004798728 RCV006249557
NM_000478.6(ALPL):c.526G>A (p.Ala176Thr)	SNV Germline	Chr1:21564094	Pathogenic/Likely pathogenic	Infantile hypophosphatasia Childhood hypophosphatasia Childhood hypophosphatasia Infantile hypophosphatasia Adult hypophosphatasia Condition: not provided Hypophosphatasia Osteogenesis imperfecta Adult hypophosphatasia ALPL-related disorder Hypophosphataemia or rickets	Criteria Provided Multiple Submitters No Conflicts	CA256935	rs_121918019	22 SubmittersRCV000014677 RCV000014678 RCV000763299 RCV000808101 RCV001275108 RCV002276549 RCV002288490 RCV004549369 RCV006277646
NM_000942.5(PPIB):c.451C>T (p.Gln151Ter)	SNV Germline	Chr15:64156802	Pathogenic	Osteogenesis imperfecta type 9 Condition: not provided	Criteria Provided Single Submitter	CA210846	rs_121434559	3 SubmittersRCV000018434 RCV000024534
NM_000089.4(COL1A2):c.279+2T>C	SNV Germline	Chr7:94401622	Pathogenic	Ehlers-Danlos syndrome, arthrochalasia type, 2 Osteogenesis imperfecta type I Ehlers-Danlos syndrome, classic type, 1	Criteria Provided Single Submitter	CA212996	rs_72656357	2 SubmittersRCV000018773 RCV002228037
NM_000089.4(COL1A2):c.3034G>C (p.Gly1012Arg)	SNV Germline	Chr7:94426459	Pathogenic	Condition: not provided Osteogenesis imperfecta with normal sclerae, dominant form	Criteria Provided Single Submitter	CA257745	rs_72659319	2 SubmittersRCV000321212 RCV000018775
NM_000089.4(COL1A2):c.2720G>A (p.Gly907Asp)	SNV Germline	Chr7:94425163	Pathogenic	Condition: not provided Osteogenesis imperfecta, perinatal lethal	Criteria Provided Single Submitter	CA257750	rs_121912900	2 SubmittersRCV002281710 RCV000018779
NM_000089.4(COL1A2):c.1640G>A (p.Gly547Asp)	SNV Germline	Chr7:94413922	Pathogenic	Osteogenesis imperfecta, perinatal lethal	No Assertion Criteria Provided	CA257753	rs_121912901	1 SubmittersRCV000018781
NM_000089.4(COL1A2):c.2593G>A (p.Gly865Ser)	SNV Germline	Chr7:94424363	Pathogenic	Osteogenesis imperfecta, perinatal lethal	No Assertion Criteria Provided	CA257756	rs_121912902	1 SubmittersRCV000018782
NM_000089.4(COL1A2):c.1936G>T (p.Gly646Cys)	SNV Germline	Chr7:94417796	Pathogenic	Osteogenesis imperfecta with normal sclerae, dominant form	No Assertion Criteria Provided	CA257759	rs_121912903	1 SubmittersRCV000018783
NM_000089.4(COL1A2):c.2414G>A (p.Gly805Asp)	SNV Germline	Chr7:94422967	Pathogenic	Osteogenesis imperfecta, perinatal lethal	No Assertion Criteria Provided	CA257762	rs_121912904	1 SubmittersRCV000018786
NM_000089.4(COL1A2):c.775G>T (p.Gly259Cys)	SNV Germline	Chr7:94408806	Pathogenic	Osteogenesis imperfecta type III Ehlers-Danlos syndrome, classic type, 1 Osteogenesis imperfecta type I	Criteria Provided Single Submitter	CA257765	rs_121912905	2 SubmittersRCV000018787 RCV005222692
NM_000089.4(COL1A2):c.1612-2A>G	SNV Germline	Chr7:94413892	Pathogenic	Osteogenesis imperfecta, perinatal lethal	No Assertion Criteria Provided	CA162926807	rs_1799871	1 SubmittersRCV000018788
NM_000089.4(COL1A2):c.1414G>T (p.Gly472Cys)	SNV Unknown	Chr7:94412593	Pathogenic	Osteogenesis imperfecta, perinatal lethal	No Assertion Criteria Provided	CA257768	rs_121912906	1 SubmittersRCV000018789
NM_000089.4(COL1A2):c.2123G>A (p.Arg708Gln)	SNV Germline	Chr7:94420276	Conflicting classifications of pathogenicity	Marfan syndrome, atypical Connective tissue disorder Ehlers-Danlos syndrome, arthrochalasia type, 2 Osteogenesis imperfecta Condition: not provided Postmenopausal osteoporosis Osteogenesis imperfecta type I Ehlers-Danlos syndrome, classic type, 1 Cardiovascular phenotype Familial cancer of breast not specified Sarcoma Cervical cancer Malignant tumor of urinary bladder	Criteria Provided Conflicting Classifications	CA210743	rs_72658163	13 SubmittersRCV000018790 RCV000680486 RCV001162671 RCV001162670 RCV001200183 RCV001330774 RCV002228038 RCV002415422 RCV005887558 RCV005237392 RCV005887561 RCV005887560 RCV005887559
NM_000089.4(COL1A2):c.2025+5G>A	SNV Germline	Chr7:94418557	Pathogenic	Osteogenesis imperfecta, perinatal lethal	No Assertion Criteria Provided	CA162931272	rs_72658157	1 SubmittersRCV000018792
NM_000089.4(COL1A2):c.1757G>T (p.Gly586Val)	SNV Germline	Chr7:94415263	Pathogenic	Osteogenesis imperfecta with normal sclerae, dominant form Osteogenesis imperfecta type III	No Assertion Criteria Provided	CA257771	rs_121912907	1 SubmittersRCV000018793 RCV000018794
NM_000089.4(COL1A2):c.2080G>C (p.Gly694Arg)	SNV Germline	Chr7:94420233	Pathogenic	Osteogenesis imperfecta, perinatal lethal	No Assertion Criteria Provided	CA257774	rs_121912908	1 SubmittersRCV000018795
NM_000089.4(COL1A2):c.1739G>A (p.Gly580Asp)	SNV Germline	Chr7:94415245	Pathogenic	Osteogenesis imperfecta, perinatal lethal	No Assertion Criteria Provided	CA257777	rs_121912909	1 SubmittersRCV000018798
NM_000089.4(COL1A2):c.2575G>A (p.Gly859Ser)	SNV Germline	Chr7:94424345	Pathogenic	Osteogenesis imperfecta type III Osteogenesis imperfecta Osteogenesis imperfecta type I Ehlers-Danlos syndrome, classic type, 1	Criteria Provided Multiple Submitters No Conflicts	CA257780	rs_72658200	3 SubmittersRCV000018802 RCV003226163 RCV005222693
NM_000089.4(COL1A2):c.1504G>A (p.Gly502Ser)	SNV Germline	Chr7:94413083	Likely pathogenic	Osteogenesis imperfecta, perinatal lethal Ehlers-Danlos syndrome, classic type, 1 Osteogenesis imperfecta type I	Criteria Provided Single Submitter	CA257783	rs_121912910	2 SubmittersRCV000018803 RCV002513109
NM_000089.4(COL1A2):c.3017G>C (p.Gly1006Ala)	SNV Germline	Chr7:94426442	Pathogenic	Osteogenesis imperfecta type III	No Assertion Criteria Provided	CA257789	rs_121912911	1 SubmittersRCV000018806
NM_000089.4(COL1A2):c.2251G>A (p.Gly751Ser)	SNV Germline	Chr7:94420604	Pathogenic	Osteogenesis imperfecta type III Ehlers-Danlos syndrome, classic type, 1 Osteogenesis imperfecta type I	Criteria Provided Single Submitter	CA257792	rs_72658176	2 SubmittersRCV000018808 RCV002228039
NM_000089.4(COL1A2):c.432+5G>A	SNV Germline	Chr7:94404897	Pathogenic	Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 Ehlers-Danlos syndrome, classic type, 1 Osteogenesis imperfecta type I	Criteria Provided Single Submitter	CA162914496	rs_72656364	2 SubmittersRCV000018810 RCV003764609
NM_000089.4(COL1A2):c.226-2A>G	SNV Germline	Chr7:94401565	Pathogenic/Likely pathogenic	Ehlers-Danlos syndrome, arthrochalasia type, 2 Condition: not provided Ehlers-Danlos syndrome Ehlers-Danlos syndrome, classic type, 1 Osteogenesis imperfecta type I COL1A2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA212997	rs_72656355	6 SubmittersRCV000018811 RCV000433468 RCV002276561 RCV002228040 RCV004742229
NM_000089.4(COL1A2):c.1099G>T (p.Gly367Trp)	SNV Germline	Chr7:94410429	Pathogenic	Osteogenesis imperfecta type III	No Assertion Criteria Provided	CA257794	rs_72656402	1 SubmittersRCV000018813
NM_000089.4(COL1A2):c.3105+2T>C	SNV Germline	Chr7:94426532	Pathogenic	Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2	No Assertion Criteria Provided	CA213000	rs_72659324	1 SubmittersRCV000018818
NM_000089.4(COL1A2):c.1136G>C (p.Gly379Ala)	SNV Germline	Chr7:94410466	Likely pathogenic	Osteogenesis imperfecta with normal sclerae, dominant form Ehlers-Danlos syndrome, classic type, 1 Osteogenesis imperfecta type I	Criteria Provided Single Submitter	CA257797	rs_121912912	2 SubmittersRCV000018819 RCV002228041
NM_000089.4(COL1A2):c.1262G>A (p.Gly421Asp)	SNV Germline	Chr7:94411066	Pathogenic	Osteogenesis imperfecta, perinatal lethal	No Assertion Criteria Provided	CA257800	rs_267606741	1 SubmittersRCV000018822
NM_000089.4(COL1A2):c.3269G>A (p.Gly1090Asp)	SNV Germline	Chr7:94427628	Pathogenic	Osteogenesis imperfecta type III	No Assertion Criteria Provided	CA257803	rs_267606742	1 SubmittersRCV000018823
NM_000089.4(COL1A2):c.3295G>A (p.Gly1099Arg)	SNV Germline	Chr7:94427654	Pathogenic	Osteogenesis imperfecta type III	No Assertion Criteria Provided	CA257806	rs_72659338	1 SubmittersRCV000018824
NM_000088.4(COL1A1):c.824G>A (p.Gly275Asp)	SNV Germline	Chr17:50196651	Pathogenic	Osteogenesis imperfecta, perinatal lethal	No Assertion Criteria Provided	CA257809	rs_72645333	1 SubmittersRCV000018825
NM_000088.4(COL1A1):c.814G>T (p.Gly272Cys)	SNV Germline	Chr17:50196661	Pathogenic	Osteogenesis imperfecta type I Infantile cortical hyperostosis	Criteria Provided Multiple Submitters No Conflicts	CA281082	rs_72645331	3 SubmittersRCV000018826 RCV002247357
NM_000088.4(COL1A1):c.1057G>T (p.Gly353Cys)	SNV Germline	Chr17:50195665	Pathogenic	Osteogenesis imperfecta with normal sclerae, dominant form Osteogenesis imperfecta type I	Criteria Provided Single Submitter	CA257812	rs_66721653	2 SubmittersRCV000018827 RCV002513110
NM_000088.4(COL1A1):c.1705G>C (p.Gly569Arg)	SNV Germline	Chr17:50194005	Pathogenic	Osteogenesis imperfecta, perinatal lethal	No Assertion Criteria Provided	CA257815	rs_72648363	1 SubmittersRCV000018828
NM_000088.4(COL1A1):c.2110G>T (p.Gly704Cys)	SNV Germline	Chr17:50191805	Pathogenic	Osteogenesis imperfecta type III Osteogenesis imperfecta with normal sclerae, dominant form	Criteria Provided Single Submitter	CA257818	rs_67368147	3 SubmittersRCV000018829 RCV000490665
NM_000088.4(COL1A1):c.2210G>A (p.Gly737Asp)	SNV Germline	Chr17:50191408	Pathogenic	Osteogenesis imperfecta, perinatal lethal	No Assertion Criteria Provided	CA257821	rs_72651651	1 SubmittersRCV000018830
NM_000088.4(COL1A1):c.2552G>A (p.Gly851Asp)	SNV Germline	Chr17:50190008	Pathogenic	Osteogenesis imperfecta, perinatal lethal	No Assertion Criteria Provided	CA257824	rs_72653137	1 SubmittersRCV000018831
NM_000088.4(COL1A1):c.2533G>A (p.Gly845Arg)	SNV Germline	Chr17:50190027	Pathogenic	Osteogenesis imperfecta, perinatal lethal Condition: not provided Osteogenesis imperfecta type I	Criteria Provided Multiple Submitters No Conflicts	CA257827	rs_72653136	6 SubmittersRCV000018832 RCV000991594 RCV001236925
NM_000088.4(COL1A1):c.2605G>T (p.Gly869Cys)	SNV Germline	Chr17:50189867	Pathogenic	Osteogenesis imperfecta, perinatal lethal Condition: not provided	Criteria Provided Single Submitter	CA257830	rs_72653143	2 SubmittersRCV000018833 RCV002464069
NM_000088.4(COL1A1):c.2686G>T (p.Gly896Cys)	SNV Germline	Chr17:50189520	Pathogenic	Osteogenesis imperfecta, perinatal lethal	No Assertion Criteria Provided	CA257833	rs_72653152	1 SubmittersRCV000018834
NM_000088.4(COL1A1):c.2776G>T (p.Gly926Cys)	SNV Germline	Chr17:50189430	Pathogenic	Osteogenesis imperfecta, perinatal lethal	No Assertion Criteria Provided	CA257836	rs_72653154	1 SubmittersRCV000018835
NM_000088.4(COL1A1):c.3028G>A (p.Gly1010Ser)	SNV Germline	Chr17:50188920	Likely pathogenic	Osteogenesis imperfecta with normal sclerae, dominant form	Criteria Provided Single Submitter	CA257839	rs_72653169	2 SubmittersRCV000018836
NM_000088.4(COL1A1):c.3064G>A (p.Gly1022Ser)	SNV Germline	Chr17:50188777	Pathogenic	Osteogenesis imperfecta type III COL1A1-related disorder	Criteria Provided Single Submitter	CA257842	rs_66523073	2 SubmittersRCV000018837 RCV004549376
NM_000088.4(COL1A1):c.3073G>A (p.Gly1025Arg)	SNV Germline	Chr17:50188768	Pathogenic	Osteogenesis imperfecta, perinatal lethal	No Assertion Criteria Provided	CA257845	rs_72653172	1 SubmittersRCV000018838
NM_000088.4(COL1A1):c.3182G>A (p.Gly1061Asp)	SNV Unknown	Chr17:50188555	Pathogenic	Osteogenesis imperfecta, perinatal lethal	No Assertion Criteria Provided	CA257848	rs_72654797	1 SubmittersRCV000018839
NM_000088.4(COL1A1):c.3244G>T (p.Gly1082Cys)	SNV Germline	Chr17:50188113	Pathogenic	Osteogenesis imperfecta, perinatal lethal	No Assertion Criteria Provided	CA257851	rs_72656303	1 SubmittersRCV000018840
NM_000088.4(COL1A1):c.3271G>A (p.Gly1091Ser)	SNV Germline	Chr17:50187974	Pathogenic	Osteogenesis imperfecta, perinatal lethal	No Assertion Criteria Provided	CA257854	rs_72656306	1 SubmittersRCV000018841
NM_000088.4(COL1A1):c.3496G>T (p.Gly1166Cys)	SNV Germline	Chr17:50187050	Pathogenic	Osteogenesis imperfecta, perinatal lethal	No Assertion Criteria Provided	CA257857	rs_72656324	1 SubmittersRCV000018842
NM_000088.4(COL1A1):c.3559G>A (p.Gly1187Ser)	SNV Germline	Chr17:50186895	Pathogenic	Osteogenesis imperfecta, perinatal lethal	No Assertion Criteria Provided	CA257860	rs_72656332	1 SubmittersRCV000018843
NM_000088.4(COL1A1):c.1066G>T (p.Gly356Cys)	SNV Germline	Chr17:50195656	Pathogenic	Osteogenesis imperfecta type I	No Assertion Criteria Provided	CA281086	rs_72645365	1 SubmittersRCV000018850
NM_000088.4(COL1A1):c.2156G>A (p.Gly719Asp)	SNV Germline	Chr17:50191462	Pathogenic	Osteogenesis imperfecta, perinatal lethal	No Assertion Criteria Provided	CA257863	rs_72651646	1 SubmittersRCV000018851
NM_000088.4(COL1A1):c.543G>A (p.Met181Ile)	SNV Germline	Chr17:50198433	Pathogenic/Likely pathogenic	Ehlers-Danlos syndrome, arthrochalasia type Osteogenesis imperfecta type I Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA10575534	rs_72667022	6 SubmittersRCV000018852 RCV001851923 RCV005801734
NM_000088.4(COL1A1):c.994G>A (p.Gly332Arg)	SNV Germline	Chr17:50196163	Pathogenic	Osteogenesis imperfecta type III Osteogenesis imperfecta Condition: not provided Osteogenesis imperfecta with normal sclerae, dominant form Osteogenesis imperfecta type I 7 conditions COL1A1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA257866	rs_72645357	9 SubmittersRCV000018853 RCV000029586 RCV000480634 RCV000490676 RCV000692051 RCV000763413 RCV004549377
NM_000088.4(COL1A1):c.3541G>A (p.Gly1181Ser)	SNV Germline	Chr17:50186913	Pathogenic/Likely pathogenic	Osteogenesis imperfecta, perinatal lethal Condition: not provided Osteogenesis imperfecta type I 8 conditions	Criteria Provided Multiple Submitters No Conflicts	CA257869	rs_72656330	4 SubmittersRCV000018854 RCV001811189 RCV004558269 RCV004795927
NM_000088.4(COL1A1):c.2444G>T (p.Gly815Val)	SNV Germline	Chr17:50190334	Pathogenic	Osteogenesis imperfecta, perinatal lethal	No Assertion Criteria Provided	CA257872	rs_66929517	1 SubmittersRCV000018855
NM_000088.4(COL1A1):c.1777G>T (p.Gly593Cys)	SNV Germline	Chr17:50193038	Likely pathogenic	Osteogenesis imperfecta, type III/IV 8 conditions	Criteria Provided Single Submitter	CA127133	rs_66527965	2 SubmittersRCV000018856 RCV004795928
NM_000088.4(COL1A1):c.787G>A (p.Gly263Arg)	SNV Germline	Chr17:50197027	Pathogenic	Osteogenesis imperfecta Osteogenesis imperfecta type I	Criteria Provided Single Submitter	CA257875	rs_72645323	2 SubmittersRCV000018857 RCV006461177
NM_000088.4(COL1A1):c.3551G>T (p.Gly1184Val)	SNV Germline	Chr17:50186903	Pathogenic	OSTEOGENESIS IMPERFECTA, TYPE IIC	No Assertion Criteria Provided	CA127136	rs_72656331	1 SubmittersRCV000018858
NM_000088.4(COL1A1):c.3452G>T (p.Gly1151Val)	SNV Germline	Chr17:50187094	Pathogenic	Condition: not provided Osteogenesis imperfecta, perinatal lethal	Criteria Provided Single Submitter	CA257878	rs_72656321	2 SubmittersRCV000657897 RCV000018859
NM_000088.4(COL1A1):c.1301G>T (p.Gly434Val)	SNV Germline	Chr17:50195099	Pathogenic	Osteogenesis imperfecta, perinatal lethal	No Assertion Criteria Provided	CA257881	rs_72648333	1 SubmittersRCV000018860
NM_000088.4(COL1A1):c.661G>T (p.Gly221Cys)	SNV Germline	Chr17:50197767	Pathogenic	Osteogenesis imperfecta type 1, mild Osteogenesis imperfecta type I	Criteria Provided Single Submitter	CA127139	rs_72667037	2 SubmittersRCV000018861 RCV001385346
NM_000088.4(COL1A1):c.957+5G>A	SNV Germline	Chr17:50196309	Pathogenic	Osteogenesis imperfecta, perinatal lethal	No Assertion Criteria Provided	CA291547201	rs_72645350	1 SubmittersRCV000018862
NM_000088.4(COL1A1):c.3235G>A (p.Gly1079Ser)	SNV Germline	Chr17:50188122	Pathogenic	Osteogenesis imperfecta type I Condition: not provided COL1A1-related disorder Osteogenesis imperfecta with normal sclerae, dominant form Osteogenesis imperfecta, perinatal lethal Osteogenesis imperfecta type III Osteogenesis imperfecta type I	Criteria Provided Multiple Submitters No Conflicts	CA281089	rs_72654802	10 SubmittersRCV000018863 RCV001596935 RCV004549378 RCV004795929
NM_000088.4(COL1A1):c.2939G>T (p.Gly980Val)	SNV Germline	Chr17:50189009	Pathogenic	Osteogenesis imperfecta, perinatal lethal Condition: not provided	Criteria Provided Single Submitter	CA257884	rs_72653166	2 SubmittersRCV000018864 RCV003228896
NM_000088.4(COL1A1):c.1588G>A (p.Gly530Ser)	SNV Germline	Chr17:50194375	Pathogenic	Osteogenesis imperfecta type III Osteogenesis imperfecta type I Condition: not provided Osteogenesis imperfecta with normal sclerae, dominant form	Criteria Provided Multiple Submitters No Conflicts	CA257887	rs_67682641	6 SubmittersRCV000018865 RCV000548768 RCV003327362 RCV005627098
NM_000088.4(COL1A1):c.1777G>A (p.Gly593Ser)	SNV Germline	Chr17:50193038	Pathogenic/Likely pathogenic	Osteogenesis imperfecta, perinatal lethal 27 conditions Condition: not provided Abnormality of the skeletal system	Criteria Provided Multiple Submitters No Conflicts	CA257890	rs_66527965	7 SubmittersRCV000018867 RCV000626590 RCV001596936 RCV001813997
NM_000088.4(COL1A1):c.2228G>T (p.Gly743Val)	SNV Germline	Chr17:50191390	Pathogenic	Osteogenesis imperfecta, perinatal lethal	No Assertion Criteria Provided	CA257893	rs_72651653	1 SubmittersRCV000018868
NM_000088.4(COL1A1):c.1598G>A (p.Gly533Asp)	SNV Unknown	Chr17:50194365	Pathogenic	Osteogenesis imperfecta, perinatal lethal	No Assertion Criteria Provided	CA257896	rs_72648356	1 SubmittersRCV000018870
NM_000088.4(COL1A1):c.3118G>A (p.Gly1040Ser)	SNV Germline	Chr17:50188619	Pathogenic	Osteogenesis imperfecta type III Condition: not provided Osteogenesis imperfecta type I Osteogenesis imperfecta, perinatal lethal	Criteria Provided Multiple Submitters No Conflicts	CA257899	rs_72653178	11 SubmittersRCV000018871 RCV000518360 RCV001245193 RCV005438368
NM_000088.4(COL1A1):c.2515G>A (p.Gly839Ser)	SNV Germline	Chr17:50190045	Pathogenic	Osteogenesis imperfecta with normal sclerae, dominant form Osteogenesis imperfecta type III	No Assertion Criteria Provided	CA257902	rs_72653131	2 SubmittersRCV000490682 RCV000018872
NM_000088.4(COL1A1):c.4391T>C (p.Leu1464Pro)	SNV Germline	Chr17:50185506	Pathogenic	Osteogenesis imperfecta type III Osteogenesis imperfecta type I	Criteria Provided Single Submitter	CA257905	rs_72656353	2 SubmittersRCV000018873 RCV003517128
NM_000088.4(COL1A1):c.572G>C (p.Gly191Ala)	SNV Germline	Chr17:50198177	Likely pathogenic	Osteogenesis imperfecta type 1, mild Osteogenesis imperfecta type I	Criteria Provided Single Submitter	CA127143	rs_67828806	2 SubmittersRCV000018875 RCV001242940
NM_000088.4(COL1A1):c.3936G>T (p.Trp1312Cys)	SNV Germline	Chr17:50186386	Pathogenic	Osteogenesis imperfecta type 2, thin-bone	No Assertion Criteria Provided	CA127146	rs_72656343	1 SubmittersRCV000018876
NM_000088.4(COL1A1):c.3421C>T (p.Arg1141Ter)	SNV Germline	Chr17:50187486	Pathogenic	Osteogenesis imperfecta type I Osteogenesis imperfecta Condition: not provided Osteogenesis imperfecta type III Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA281092	rs_72656314	12 SubmittersRCV000018878 RCV000582506 RCV000599479 RCV005252113 RCV005801735
NM_000088.4(COL1A1):c.2291G>T (p.Gly764Val)	SNV Germline	Chr17:50190869	Pathogenic	Osteogenesis imperfecta, perinatal lethal	No Assertion Criteria Provided	CA257908	rs_72651657	1 SubmittersRCV000018879
NM_000088.4(COL1A1):c.642+1G>A	SNV Germline	Chr17:50197948	Pathogenic	Osteogenesis imperfecta with normal sclerae, dominant form	No Assertion Criteria Provided	CA291548070	rs_67364703	1 SubmittersRCV000018882
NM_000088.4(COL1A1):c.934C>T (p.Arg312Cys)	SNV Germline	Chr17:50196337	Pathogenic/Likely pathogenic	Ehlers-Danlos syndrome, classic type Bruising susceptibility Fragile skin Joint hypermobility Osteogenesis imperfecta type I Osteogenesis imperfecta with normal sclerae, dominant form Ehlers-Danlos syndrome 8 conditions Condition: not provided Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA281095	rs_72645347	9 SubmittersRCV000018884 RCV000415259 RCV000631472 RCV001198512 RCV002276563 RCV002496407 RCV003225023 RCV005627208
NM_000088.4(COL1A1):c.1299+1G>C	SNV Germline	Chr17:50195231	Pathogenic	Osteogenesis imperfecta type I Osteogenesis imperfecta with normal sclerae, dominant form	No Assertion Criteria Provided	CA291546592	rs_66490707	1 SubmittersRCV000018887 RCV000018888
NM_000088.4(COL1A1):c.3040C>T (p.Arg1014Cys)	SNV Germline	Chr17:50188908	Pathogenic	Infantile cortical hyperostosis Condition: not provided Osteogenesis imperfecta type I 7 conditions	Criteria Provided Multiple Submitters No Conflicts	CA341441	rs_72653170	8 SubmittersRCV000018889 RCV000420639 RCV000685879 RCV000763407
NM_000088.4(COL1A1):c.572G>A (p.Gly191Asp)	SNV Germline	Chr17:50198177	Pathogenic	Osteogenesis imperfecta type I Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1	Criteria Provided Single Submitter	CA127151	rs_67828806	2 SubmittersRCV004018642 RCV000018891
NM_000088.4(COL1A1):c.761G>A (p.Gly254Glu)	SNV Germline	Chr17:50197053	Pathogenic	Osteogenesis imperfecta type III	No Assertion Criteria Provided	CA257911	rs_72645320	1 SubmittersRCV000018892
NM_001235.5(SERPINH1):c.233T>C (p.Leu78Pro)	SNV Germline	Chr11:75566582	Pathogenic	Osteogenesis imperfecta type 10	No Assertion Criteria Provided	CA128973	rs_137853892	1 SubmittersRCV000023052
NM_021939.4(FKBP10):c.344G>A (p.Arg115Gln)	SNV Germline	Chr17:41817156	Pathogenic/Likely pathogenic	Bruck syndrome 1 Osteogenesis imperfecta Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA129381	rs_387906960	6 SubmittersRCV000023609 RCV002281717 RCV001852024
NM_000942.5(PPIB):c.313G>A (p.Gly105Arg)	SNV Germline	Chr15:64160134	Pathogenic/Likely pathogenic	Condition: not provided Osteogenesis imperfecta type 9 Osteogenesis imperfecta	Criteria Provided Multiple Submitters No Conflicts	CA210932	rs_137853866	4 SubmittersRCV000024538 RCV000202406 RCV003114203
NM_002615.7(SERPINF1):c.696C>G (p.Tyr232Ter)	SNV Germline	Chr17:1775110	Pathogenic	Osteogenesis imperfecta type 6 Condition: not provided	Criteria Provided Single Submitter	CA128684	rs_193302872	3 SubmittersRCV000022716 RCV000024545
NM_002615.7(SERPINF1):c.1132C>T (p.Gln378Ter)	SNV Germline	Chr17:1777321	Pathogenic	Osteogenesis imperfecta type 6 Condition: not provided	No Assertion Criteria Provided	CA128686	rs_193302873	2 SubmittersRCV000022718 RCV000024547
NM_000088.4(COL1A1):c.1021G>T (p.Gly341Cys)	SNV Germline	Chr17:50195958	Likely pathogenic	Osteogenesis imperfecta	Criteria Provided Single Submitter	CA260264	rs_193922137	1 SubmittersRCV000029551
NM_000088.4(COL1A1):c.1042G>A (p.Ala348Thr)	SNV Germline	Chr17:50195937	Conflicting classifications of pathogenicity	not specified Infantile cortical hyperostosis Ehlers-Danlos syndrome, arthrochalasia type Osteogenesis imperfecta Condition: not provided Osteogenesis imperfecta type I Familial thoracic aortic aneurysm and aortic dissection Ehlers-Danlos syndrome Cardiovascular phenotype COL1A1-related disorder	Criteria Provided Conflicting Classifications	CA260267	rs_139955975	12 SubmittersRCV000029552 RCV000262664 RCV000320157 RCV000367913 RCV000521409 RCV000560142 RCV000599940 RCV002276573 RCV002399337 RCV004737164
NM_000088.4(COL1A1):c.1200+1G>A	SNV Germline	Chr17:50195433	Pathogenic	Osteogenesis imperfecta Osteogenesis imperfecta type I	Criteria Provided Multiple Submitters No Conflicts	CA260270	rs_72648320	2 SubmittersRCV000029553 RCV001043307
NM_000088.4(COL1A1):c.1235C>G (p.Pro412Arg)	SNV Germline	Chr17:50195296	Likely pathogenic	Osteogenesis imperfecta	Criteria Provided Single Submitter	CA260271	rs_193922138	1 SubmittersRCV000029554
NM_000088.4(COL1A1):c.1299+5G>A	SNV Germline	Chr17:50195227	Pathogenic/Likely pathogenic	Osteogenesis imperfecta Osteogenesis imperfecta type I Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA260274	rs_193922139	4 SubmittersRCV000029555 RCV000688895 RCV002381264
NM_000088.4(COL1A1):c.1544G>C (p.Gly515Ala)	SNV Germline	Chr17:50194419	Likely pathogenic	Osteogenesis imperfecta	Criteria Provided Single Submitter	CA260275	rs_193922140	1 SubmittersRCV000029556
NM_000088.4(COL1A1):c.1583G>A (p.Arg528His)	SNV Germline	Chr17:50194380	Conflicting classifications of pathogenicity	Condition: not provided Osteogenesis imperfecta type I Cardiovascular phenotype not specified	Criteria Provided Conflicting Classifications	CA260278	rs_144751329	9 SubmittersRCV000755939 RCV000989947 RCV002399338 RCV003323365
NM_000088.4(COL1A1):c.1768-8C>T	SNV Germline	Chr17:50193055	Conflicting classifications of pathogenicity	Osteogenesis imperfecta Osteogenesis imperfecta type I Ehlers-Danlos syndrome, arthrochalasia type Infantile cortical hyperostosis Condition: not provided See cases not specified	Criteria Provided Conflicting Classifications	CA260282	rs_193922142	7 SubmittersRCV000029559 RCV000872415 RCV001125671 RCV001125670 RCV001703422 RCV002251930 RCV005237415
NM_000088.4(COL1A1):c.1882G>A (p.Ala628Thr)	SNV Germline	Chr17:50192687	Conflicting classifications of pathogenicity	Osteogenesis imperfecta Condition: not provided Osteogenesis imperfecta type I Cardiovascular phenotype not specified	Criteria Provided Conflicting Classifications	CA260284	rs_113950465	9 SubmittersRCV000029561 RCV000585102 RCV001087782 RCV002408480 RCV004562218
NM_000088.4(COL1A1):c.2062C>T (p.Gln688Ter)	SNV Germline	Chr17:50191853	Pathogenic/Likely pathogenic	Osteogenesis imperfecta Condition: not provided Osteogenesis imperfecta type I 8 conditions	Criteria Provided Multiple Submitters No Conflicts	CA260287	rs_193922144	5 SubmittersRCV000029562 RCV001575593 RCV005055525 RCV005016298
NM_000088.4(COL1A1):c.2161C>T (p.Gln721Ter)	SNV Germline	Chr17:50191457	Pathogenic/Likely pathogenic	Osteogenesis imperfecta Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA260290	rs_193922145	2 SubmittersRCV000029563 RCV000403934
NM_000088.4(COL1A1):c.2398-1G>C	SNV Germline	Chr17:50190381	Pathogenic/Likely pathogenic	Osteogenesis imperfecta Osteogenesis imperfecta type I	Criteria Provided Multiple Submitters No Conflicts	CA260294	rs_193922147	2 SubmittersRCV000029565 RCV002513241
NM_000088.4(COL1A1):c.2594G>A (p.Arg865His)	SNV Germline	Chr17:50189878	Conflicting classifications of pathogenicity	Osteogenesis imperfecta Osteogenesis imperfecta type I Ehlers-Danlos syndrome, arthrochalasia type Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA260298	rs_193922150	4 SubmittersRCV000029569 RCV001247065 RCV003137543 RCV004018683
NM_000088.4(COL1A1):c.2595C>T (p.Arg865=)	SNV Germline	Chr17:50189877	Conflicting classifications of pathogenicity	Osteogenesis imperfecta not specified Ehlers-Danlos syndrome, arthrochalasia type Infantile cortical hyperostosis Osteogenesis imperfecta type I Condition: not provided Ehlers-Danlos syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA202652	rs_117672175	10 SubmittersRCV000029570 RCV000177893 RCV000300080 RCV000368843 RCV000527836 RCV001703423 RCV002276574 RCV002426520
NM_000088.4(COL1A1):c.2897A>G (p.Gln966Arg)	SNV Germline	Chr17:50189208	Likely pathogenic	Osteogenesis imperfecta	Criteria Provided Single Submitter	CA260302	rs_193922152	1 SubmittersRCV000029572
NM_000088.4(COL1A1):c.2932C>T (p.Pro978Ser)	SNV Germline	Chr17:50189173	Conflicting classifications of pathogenicity	Osteogenesis imperfecta type I Familial thoracic aortic aneurysm and aortic dissection not specified Connective tissue disorder Infantile cortical hyperostosis Osteogenesis imperfecta Ehlers-Danlos syndrome, arthrochalasia type Condition: not provided Ehlers-Danlos syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA260305	rs_193922153	10 SubmittersRCV000537025 RCV000607797 RCV000608881 RCV000680480 RCV001125487 RCV001125486 RCV001125488 RCV001535421 RCV002276575 RCV002433474
NM_000088.4(COL1A1):c.3076C>T (p.Arg1026Ter)	SNV Germline	Chr17:50188765	Pathogenic	Osteogenesis imperfecta Condition: not provided Osteogenesis imperfecta type I Ehlers-Danlos syndrome, arthrochalasia type Osteogenesis imperfecta Infantile cortical hyperostosis Abnormality of the skeletal system 8 conditions COL1A1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA260309	rs_72653173	16 SubmittersRCV000029575 RCV000498745 RCV000551341 RCV001535575 RCV001814012 RCV002504826 RCV004737165
NM_000088.4(COL1A1):c.370-2A>G	SNV Germline	Chr17:50199329	Likely pathogenic	Osteogenesis imperfecta	Criteria Provided Single Submitter	CA260312	rs_193922155	1 SubmittersRCV000029576
NM_000088.4(COL1A1):c.517G>T (p.Gly173Ter)	SNV Germline	Chr17:50198459	Pathogenic/Likely pathogenic	Osteogenesis imperfecta Osteogenesis imperfecta type I	Criteria Provided Multiple Submitters No Conflicts	CA260317	rs_193922157	2 SubmittersRCV000029579 RCV001852590
NM_000088.4(COL1A1):c.751-2A>G	SNV Germline	Chr17:50197065	Pathogenic/Likely pathogenic	Osteogenesis imperfecta Osteogenesis imperfecta type I	Criteria Provided Multiple Submitters No Conflicts	CA260325	rs_193922158	2 SubmittersRCV000029583 RCV000798967
NM_000088.4(COL1A1):c.805G>A (p.Gly269Ser)	SNV Germline	Chr17:50196670	Pathogenic/Likely pathogenic	Osteogenesis imperfecta Osteogenesis imperfecta type I	Criteria Provided Multiple Submitters No Conflicts	CA260326	rs_72645328	2 SubmittersRCV000029584 RCV001852591
NM_000089.4(COL1A2):c.1148C>A (p.Pro383His)	SNV Germline	Chr7:94410478	Conflicting classifications of pathogenicity	Condition: not provided not specified Osteogenesis imperfecta type I Ehlers-Danlos syndrome, classic type, 1 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA260334	rs_193922159	4 SubmittersRCV001770043 RCV001824577 RCV002228061 RCV002453270
NM_000089.4(COL1A2):c.1295G>A (p.Arg432Gln)	SNV Germline	Chr7:94411099	Conflicting classifications of pathogenicity	not specified Condition: not provided Ehlers-Danlos syndrome, arthrochalasia type, 2 Osteogenesis imperfecta type I Ehlers-Danlos syndrome, cardiac valvular type Osteogenesis imperfecta type I Ehlers-Danlos syndrome, classic type, 1 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA260337	rs_139446305	7 SubmittersRCV000029590 RCV000412879 RCV001249446 RCV002228062 RCV004609296
NM_000089.4(COL1A2):c.1873G>A (p.Gly625Ser)	SNV Germline	Chr7:94417733	Likely pathogenic	Osteogenesis imperfecta	Criteria Provided Single Submitter	CA260345	rs_193922162	1 SubmittersRCV000029594
NM_000089.4(COL1A2):c.1991G>A (p.Gly664Asp)	SNV Germline	Chr7:94418518	Pathogenic/Likely pathogenic	Osteogenesis imperfecta Condition: not provided Osteogenesis imperfecta type I Ehlers-Danlos syndrome, classic type, 1	Criteria Provided Multiple Submitters No Conflicts	CA260348	rs_72658154	3 SubmittersRCV000029595 RCV001781322 RCV002513242
NM_000089.4(COL1A2):c.2827G>A (p.Gly943Arg)	SNV Germline	Chr7:94425655	Conflicting classifications of pathogenicity	Osteogenesis imperfecta Osteogenesis imperfecta type I Ehlers-Danlos syndrome, classic type, 1 Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA260359	rs_193922165	6 SubmittersRCV000029600 RCV001852592 RCV001843944 RCV002433475
NM_000089.4(COL1A2):c.3355G>C (p.Ala1119Pro)	SNV Germline	Chr7:94427714	Conflicting classifications of pathogenicity	Osteogenesis imperfecta Osteogenesis imperfecta type I Ehlers-Danlos syndrome, classic type, 1	Criteria Provided Conflicting Classifications	CA260370	rs_193922168	2 SubmittersRCV000029605 RCV002513244
NM_000089.4(COL1A2):c.677G>A (p.Gly226Asp)	SNV Germline	Chr7:94408220	Likely pathogenic	Osteogenesis imperfecta Osteogenesis imperfecta type I Ehlers-Danlos syndrome, classic type, 1	Criteria Provided Multiple Submitters No Conflicts	CA260382	rs_193922173	2 SubmittersRCV000029611 RCV003764639
NM_000089.4(COL1A2):c.838G>A (p.Gly280Ser)	SNV Germline	Chr7:94409367	Pathogenic	Osteogenesis imperfecta Condition: not provided Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 Osteogenesis imperfecta type I Ehlers-Danlos syndrome, classic type, 1 Increased susceptibility to fractures Osteogenesis imperfecta, perinatal lethal Ehlers-Danlos syndrome, arthrochalasia type, 2 COL1A2-related disorder 7 conditions Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA260386	rs_72656387	15 SubmittersRCV000029613 RCV000517418 RCV002288521 RCV002228065 RCV002255121 RCV003992162 RCV003989302 RCV004742233 RCV005031462 RCV005540011
NM_000089.4(COL1A2):c.945C>T (p.Pro315=)	SNV Germline	Chr7:94409731	Conflicting classifications of pathogenicity	Condition: not provided Osteogenesis imperfecta type I Ehlers-Danlos syndrome, classic type, 1 Ehlers-Danlos syndrome Cardiovascular phenotype COL1A2-related disorder not specified	Criteria Provided Conflicting Classifications	CA260392	rs_147058179	7 SubmittersRCV001575964 RCV002054489 RCV002276581 RCV002371784 RCV003914866 RCV005237422
NM_006129.5(BMP1):c.747C>G (p.Phe249Leu)	SNV Germline	Chr8:22177868	Likely pathogenic	Osteogenesis imperfecta type 13	Criteria Provided Single Submitter	CA130155	rs_398122891	2 SubmittersRCV000030846
NM_006129.5(BMP1):c.34G>C (p.Gly12Arg)	SNV Germline	Chr8:22165439	Pathogenic/Likely pathogenic	Osteogenesis imperfecta type 13 Condition: not provided Abnormality of the skeletal system Osteogenesis imperfecta	Criteria Provided Multiple Submitters No Conflicts	CA130156	rs_318240762	6 SubmittersRCV000030847 RCV000059794 RCV001814013 RCV004689429
NM_021939.3(FKBP10):c.1207C>T (p.Arg403Ter)	SNV Germline	Chr17:41820412	Pathogenic	Osteogenesis imperfecta type 12	No Assertion Criteria Provided	CA130628	rs_372896892	1 SubmittersRCV000033069
NM_000088.4(COL1A1):c.4160C>T (p.Ala1387Val)	SNV Unknown	Chr17:50185866	Pathogenic	Osteogenesis imperfecta, perinatal lethal	No Assertion Criteria Provided	CA261266	rs_397514672	1 SubmittersRCV000034355
NM_021939.4(FKBP10):c.337G>A (p.Glu113Lys)	SNV Germline	Chr17:41817149	Pathogenic/Likely pathogenic	Bruck syndrome 1 Osteogenesis imperfecta type 11 Condition: not provided Osteogenesis imperfecta Osteogenesis imperfecta type 11 Bruck syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA130860	rs_397514674	6 SubmittersRCV000034360 RCV003137556 RCV003556108 RCV004579534 RCV005016321
NM_006371.5(CRTAP):c.561T>G (p.Tyr187Ter)	SNV Germline	Chr3:33120433	Pathogenic	Osteogenesis imperfecta type 7	No Assertion Criteria Provided	CA130914	rs_387907334	1 SubmittersRCV000034836
NM_005430.4(WNT1):c.624+4A>G	SNV Germline	Chr12:48980693	Pathogenic	Osteogenesis imperfecta type 15	No Assertion Criteria Provided	CA143722	rs_387907354	1 SubmittersRCV000043493
NM_005430.4(WNT1):c.565G>T (p.Glu189Ter)	SNV Germline	Chr12:48980630	Pathogenic	Osteogenesis imperfecta type 15	No Assertion Criteria Provided	CA143723	rs_387907355	1 SubmittersRCV000043494
NM_005430.4(WNT1):c.884C>A (p.Ser295Ter)	SNV Germline	Chr12:48981411	Pathogenic/Likely pathogenic	Osteogenesis imperfecta type 15 Condition: not provided Inborn genetic diseases Osteogenesis imperfecta type 15 OSTEOPOROSIS, EARLY-ONSET, SUSCEPTIBILITY TO	Criteria Provided Multiple Submitters No Conflicts	CA143725	rs_387907356	5 SubmittersRCV000043495 RCV000489304 RCV001267401 RCV005007964
NM_005430.4(WNT1):c.1063G>T (p.Val355Phe)	SNV Germline	Chr12:48981590	Likely pathogenic	Osteogenesis imperfecta type 15 Keratoconus Osteogenesis imperfecta	Criteria Provided Single Submitter	CA143728	rs_387907358	3 SubmittersRCV000043497 RCV000678662 RCV006456650
NM_000088.4(COL1A1):c.3277C>T (p.Arg1093Cys)	SNV Germline/somatic	Chr17:50187968	Conflicting classifications of pathogenicity	Prostate cancer Osteogenesis imperfecta type I Condition: not provided Ehlers-Danlos syndrome Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 8 conditions Cardiovascular phenotype not specified	Criteria Provided Conflicting Classifications	CA174070	rs_72656307	8 SubmittersRCV000148991 RCV000631466 RCV001753528 RCV002277297 RCV002288660 RCV002492548 RCV005540015 RCV006268628
NM_002335.4(LRP5):c.3107G>A (p.Arg1036Gln)	SNV Germline	Chr11:68423568	Conflicting classifications of pathogenicity	Polycystic kidney disease, adult type not specified 9 conditions Condition: not provided Autosomal dominant osteopetrosis 1 Osteogenesis imperfecta Autosomal dominant polycystic kidney disease LRP5-related disorder	Criteria Provided Conflicting Classifications	CA210921	rs_61889560	17 SubmittersRCV000162089 RCV000174732 RCV000765011 RCV000767146 RCV001260288 RCV002277317 RCV001844811 RCV004724952
NM_002335.4(LRP5):c.1360G>A (p.Val454Met)	SNV Germline	Chr11:68386660	Conflicting classifications of pathogenicity	Polycystic liver disease 1 Polycystic liver disease 4 with or without kidney cysts Osteogenesis imperfecta Condition: not provided 6 conditions Retinal dystrophy	Criteria Provided Conflicting Classifications	CA210927	rs_373910016	6 SubmittersRCV000162092 RCV000584798 RCV002277318 RCV002515121 RCV005049440 RCV004815255
NM_001025295.3(IFITM5):c.119C>T (p.Ser40Leu)	SNV Germline	Chr11:299372	Pathogenic	Osteogenesis imperfecta type 5 Condition: not provided IFITM5-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA186137	rs_786201032	8 SubmittersRCV000162330 RCV000351373 RCV004757968
NM_006129.5(BMP1):c.2108-359T>C	SNV Germline	Chr8:22201444	Pathogenic	Osteogenesis imperfecta type 13	No Assertion Criteria Provided	CA199627	rs_786205217	1 SubmittersRCV000170453
NM_006129.5(BMP1):c.2107G>C (p.Asp703His)	SNV Germline	Chr8:22197420	Pathogenic	Osteogenesis imperfecta type 13	No Assertion Criteria Provided	CA199628	rs_786205218	1 SubmittersRCV000170454
NM_006129.5(BMP1):c.808A>G (p.Met270Val)	SNV Germline	Chr8:22177929	Pathogenic	Osteogenesis imperfecta type 13	No Assertion Criteria Provided	CA199631	rs_786205219	1 SubmittersRCV000170455
NM_006129.5(BMP1):c.1297G>T (p.Ala433Ser)	SNV Germline	Chr8:22194174	Pathogenic	Osteogenesis imperfecta type 13 Condition: not provided	Criteria Provided Single Submitter	CA199632	rs_786205220	2 SubmittersRCV000170456 RCV003556216
NM_021939.4(FKBP10):c.917+53G>T	SNV Germline	Chr17:41819452	Conflicting classifications of pathogenicity	Condition: not provided Osteogenesis imperfecta type 11 FKBP10-related disorder	Criteria Provided Conflicting Classifications	CA235969	rs_141387386	6 SubmittersRCV000171257 RCV000989848 RCV003917583
NM_000088.4(COL1A1):c.91C>T (p.Gln31Ter)	SNV Germline	Chr17:50201423	Pathogenic	Condition: not provided Osteogenesis imperfecta type I	Criteria Provided Multiple Submitters No Conflicts	CA274894	rs_794726873	3 SubmittersRCV000173063 RCV001852105
NM_000088.4(COL1A1):c.959G>A (p.Gly320Asp)	SNV Germline	Chr17:50196198	Pathogenic/Likely pathogenic	Condition: not provided Osteogenesis imperfecta type I	Criteria Provided Multiple Submitters No Conflicts	CA275017	rs_72645353	2 SubmittersRCV000174826 RCV003517139
NM_022356.4(P3H1):c.2152C>G (p.Pro718Ala)	SNV Germline	Chr1:42746756	Conflicting classifications of pathogenicity	Condition: not provided Osteogenesis imperfecta type 8 Osteogenesis Imperfecta, Recessive P3H1-related disorder	Criteria Provided Conflicting Classifications	CA240595	rs_533729683	5 SubmittersRCV000724099 RCV001078667 RCV001097676 RCV003917620
NM_001235.5(SERPINH1):c.580C>A (p.Arg194Ser)	SNV Germline	Chr11:75566929	Conflicting classifications of pathogenicity	Condition: not provided Osteogenesis imperfecta type 10 Preterm premature rupture of membranes Osteogenesis imperfecta type 10 not specified SERPINH1-related disorder	Criteria Provided Conflicting Classifications	CA241426	rs_141721173	8 SubmittersRCV000175693 RCV000261310 RCV000763776 RCV003330534 RCV004757153
NM_021939.4(FKBP10):c.246-5C>G	SNV Germline	Chr17:41817053	Conflicting classifications of pathogenicity	Condition: not provided Osteogenesis imperfecta type 11 Osteogenesis imperfecta not specified FKBP10-related disorder Acute myeloid leukemia Adrenocortical carcinoma, hereditary Clear cell carcinoma of kidney Malignant tumor of esophagus	Criteria Provided Conflicting Classifications	CA241786	rs_140027863	10 SubmittersRCV000175935 RCV000329828 RCV002277369 RCV003330535 RCV003947491 RCV005889845 RCV005889847 RCV005889848 RCV005889846
NM_000089.4(COL1A2):c.1694G>C (p.Gly565Ala)	SNV Germline	Chr7:94414250	Pathogenic/Likely pathogenic	Condition: not provided Osteogenesis imperfecta type I Ehlers-Danlos syndrome, classic type, 1	Criteria Provided Multiple Submitters No Conflicts	CA243024	rs_794727470	2 SubmittersRCV000176911 RCV002516717
NM_001235.5(SERPINH1):c.721+9T>C	SNV Germline	Chr11:75568838	Conflicting classifications of pathogenicity	not specified Osteogenesis imperfecta type 10 Condition: not provided Osteogenesis imperfecta	Criteria Provided Conflicting Classifications	CA202301	rs_138193444	6 SubmittersRCV000177129 RCV000329748 RCV000971578 RCV002277389
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	4 SubmittersRCV000177330 RCV002054089
NM_000088.4(COL1A1):c.1984-5C>A	SNV Germline	Chr17:50192029	Conflicting classifications of pathogenicity	not specified Condition: not provided Connective tissue disorder Osteogenesis imperfecta type I Infantile cortical hyperostosis Osteogenesis imperfecta Ehlers-Danlos syndrome, arthrochalasia type Ehlers-Danlos syndrome Cardiovascular phenotype Ehlers-Danlos/osteogenesis imperfecta syndrome COL1A1-related disorder Clear cell carcinoma of kidney Colon adenocarcinoma Gastric cancer Ovarian serous cystadenocarcinoma Thymoma Lung cancer Familial cancer of breast Cervical cancer	Criteria Provided Conflicting Classifications	CA202470	rs_66592376	22 SubmittersRCV000177437 RCV000514224 RCV000659353 RCV000989945 RCV001127681 RCV001127682 RCV001125582 RCV002277393 RCV002415762 RCV003993859 RCV004552992 RCV005889926 RCV005889924 RCV005889927 RCV005889928 RCV005889929 RCV005889930 RCV005889923 RCV005889925
NM_000088.4(COL1A1):c.2508C>T (p.Gly836=)	SNV Germline	Chr17:50190052	Conflicting classifications of pathogenicity	Condition: not provided Osteogenesis imperfecta type I Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA244807	rs_200620805	5 SubmittersRCV000177856 RCV001083073 RCV002433775
NM_001235.5(SERPINH1):c.744C>T (p.Asp248=)	SNV Germline	Chr11:75568961	Conflicting classifications of pathogenicity	not specified Osteogenesis imperfecta type 10 Condition: not provided Osteogenesis imperfecta	Criteria Provided Conflicting Classifications	CA202738	rs_61733248	7 SubmittersRCV000178158 RCV000388996 RCV000757756 RCV002277398
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_000088.4(COL1A1):c.3025C>T (p.Pro1009Ser)	SNV Germline	Chr17:50188923	Conflicting classifications of pathogenicity	Condition: not provided Osteogenesis imperfecta type I	Criteria Provided Conflicting Classifications	CA245549	rs_794727663	2 SubmittersRCV000178451 RCV003631093
NM_000088.4(COL1A1):c.3060C>T (p.Ala1020=)	SNV Germline	Chr17:50188781	Conflicting classifications of pathogenicity	Condition: not provided Osteogenesis imperfecta type I Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA245590	rs_751239116	3 SubmittersRCV000178478 RCV000534294 RCV002444712
NM_002335.4(LRP5):c.1585-9G>A	SNV Germline	Chr11:68403474	Conflicting classifications of pathogenicity	Condition: not provided Osteogenesis imperfecta not specified	Criteria Provided Conflicting Classifications	CA247601	rs_202067798	7 SubmittersRCV000180228 RCV002277429 RCV004998386
NM_006371.5(CRTAP):c.471+2C>A	SNV Germline	Chr3:33114550	Pathogenic/Likely pathogenic	Osteogenesis imperfecta type 7 Condition: not provided Osteogenesis imperfecta CRTAP-related disorder Hepatocellular carcinoma	Criteria Provided Multiple Submitters No Conflicts	CA204553	rs_137853943	12 SubmittersRCV000190575 RCV000255275 RCV002277445 RCV003927754 RCV005892212
NM_000088.4(COL1A1):c.2866G>A (p.Gly956Arg)	SNV Germline	Chr17:50189239	Likely pathogenic	Osteogenesis imperfecta type I	Criteria Provided Single Submitter	CA281504	rs_797045033	1 SubmittersRCV000191071
NM_006371.5(CRTAP):c.471+2C>G	SNV Germline	Chr3:33114550	Likely pathogenic	Osteogenesis imperfecta type 7 Nonpapillary renal cell carcinoma	No Assertion Criteria Provided	CA205864	rs_137853943	2 SubmittersRCV000192794 RCV005892404
NM_000089.4(COL1A2):c.2957C>T (p.Pro986Leu)	SNV Germline	Chr7:94426011	Conflicting classifications of pathogenicity	Osteogenesis imperfecta with normal sclerae, dominant form Osteogenesis imperfecta, perinatal lethal Osteogenesis imperfecta type III Condition: not provided Osteogenesis imperfecta Ehlers-Danlos syndrome, classic type, 1 Osteogenesis imperfecta type I Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA277523	rs_768171831	5 SubmittersRCV000199225 RCV001589081 RCV002277551 RCV002519576 RCV004992076
NM_000089.4(COL1A2):c.3034G>A (p.Gly1012Ser)	SNV Germline	Chr7:94426459	Pathogenic/Likely pathogenic	Osteogenesis imperfecta with normal sclerae, dominant form Osteogenesis imperfecta, perinatal lethal Osteogenesis imperfecta type III Osteogenesis imperfecta with normal sclerae, dominant form Osteogenesis imperfecta, perinatal lethal Osteogenesis imperfecta 6 conditions Condition: not provided Ehlers-Danlos syndrome, classic type, 1 Osteogenesis imperfecta type I Ehlers-Danlos syndrome, arthrochalasia type, 2	Criteria Provided Multiple Submitters No Conflicts	CA277502	rs_72659319	12 SubmittersRCV000197038 RCV000490657 RCV000664407 RCV000722167 RCV000763176 RCV001269648 RCV002229497 RCV004813077
NM_006371.5(CRTAP):c.118G>T (p.Glu40Ter)	SNV Germline	Chr3:33114195	Pathogenic	Osteogenesis imperfecta type 7	Criteria Provided Single Submitter	CA279115	rs_863225043	2 SubmittersRCV000201190
NM_000942.5(PPIB):c.569G>A (p.Arg190Gln)	SNV Germline	Chr15:64156105	Conflicting classifications of pathogenicity	not specified Condition: not provided Osteogenesis imperfecta Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA249033	rs_200864554	6 SubmittersRCV000202830 RCV000726716 RCV002277558 RCV002515494
NM_002615.7(SERPINF1):c.242C>G (p.Ser81Cys)	SNV Germline	Chr17:1770009	Conflicting classifications of pathogenicity	not specified Osteogenesis imperfecta type 6 Condition: not provided Osteogenesis imperfecta Osteoporosis SERPINF1-related disorder	Criteria Provided Conflicting Classifications	CA248888	rs_140512665	11 SubmittersRCV000202689 RCV000317548 RCV000657868 RCV002277560 RCV001843423 RCV003907757
NM_000088.4(COL1A1):c.613C>G (p.Pro205Ala)	SNV Germline	Chr17:50197978	Conflicting classifications of pathogenicity	not specified Condition: not provided Osteogenesis imperfecta Connective tissue disorder Infantile cortical hyperostosis Osteogenesis imperfecta type I Ehlers-Danlos syndrome, arthrochalasia type Ehlers-Danlos syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA249240	rs_72667032	20 SubmittersRCV000203035 RCV000224220 RCV000487429 RCV000659348 RCV001124961 RCV001082142 RCV001124960 RCV002277557 RCV002354572
NM_002335.4(LRP5):c.3361A>G (p.Asn1121Asp)	SNV Germline	Chr11:68425226	Conflicting classifications of pathogenicity	Exudative vitreoretinopathy 4 Condition: not provided Osteogenesis imperfecta LRP5-related disorder Inborn genetic diseases 6 conditions	Criteria Provided Conflicting Classifications	CA6149957	rs_80358317	8 SubmittersRCV000490288 RCV000486498 RCV002277573 RCV004742334 RCV005589791 RCV005003561
NM_000088.4(COL1A1):c.3766G>A (p.Ala1256Thr)	SNV Germline	Chr17:50186688	Conflicting classifications of pathogenicity	Osteogenesis imperfecta type I Condition: not provided Infantile cortical hyperostosis Ehlers-Danlos syndrome, arthrochalasia type Osteogenesis imperfecta Ehlers-Danlos syndrome Cardiovascular phenotype Hypertrophic cardiomyopathy not specified Keratoconus COL1A1-related disorder	Criteria Provided Conflicting Classifications	CA8644359	rs_148216434	12 SubmittersRCV000490355 RCV000877791 RCV001126949 RCV001127360 RCV001127361 RCV002277572 RCV002347820 RCV003319187 RCV002298529 RCV003324521 RCV004737336
NM_000088.4(COL1A1):c.4018G>A (p.Gly1340Ser)	SNV Germline	Chr17:50186008	Conflicting classifications of pathogenicity	Condition: not provided not specified Connective tissue disorder Osteogenesis imperfecta type I Ehlers-Danlos syndrome Cardiovascular phenotype COL1A1-related disorder	Criteria Provided Conflicting Classifications	CA8644271	rs_147936946	15 SubmittersRCV000224096 RCV000602706 RCV000659363 RCV001089449 RCV002277585 RCV002354626 RCV004547573
NM_021939.4(FKBP10):c.590A>G (p.Lys197Arg)	SNV Germline	Chr17:41818390	Conflicting classifications of pathogenicity	not specified Osteogenesis imperfecta type 11 Condition: not provided	Criteria Provided Conflicting Classifications	CA8566304	rs_34764749	8 SubmittersRCV000249973 RCV000844870 RCV001573716
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_000089.4(COL1A2):c.577G>A (p.Gly193Ser)	SNV Germline	Chr7:94406286	Pathogenic	Condition: not provided Osteogenesis imperfecta type I Postmenopausal osteoporosis Ehlers-Danlos syndrome, classic type, 1 Osteogenesis imperfecta type I 7 conditions Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2	Criteria Provided Multiple Submitters No Conflicts	CA4346716	rs_72656370	8 SubmittersRCV000255575 RCV000490744 RCV001526511 RCV002229832 RCV004796138 RCV004596152
NM_000089.4(COL1A2):c.1360G>T (p.Gly454Cys)	SNV Germline	Chr7:94412077	Pathogenic	Condition: not provided Osteogenesis imperfecta, perinatal lethal	Criteria Provided Multiple Submitters No Conflicts	CA4347024	rs_72658117	2 SubmittersRCV000255999 RCV004786641
NM_000088.4(COL1A1):c.1678G>A (p.Gly560Ser)	SNV Germline	Chr17:50194032	Pathogenic	Condition: not provided Osteogenesis imperfecta type I Osteogenesis imperfecta Ehlers-Danlos syndrome COL1A1-related disorder Osteogenesis imperfecta with normal sclerae, dominant form Osteogenesis imperfecta type III Osteogenesis imperfecta type I	Criteria Provided Multiple Submitters No Conflicts	CA10588664	rs_67507747	14 SubmittersRCV000255844 RCV000293333 RCV000722158 RCV002278251 RCV004725133 RCV005895447
NM_000088.4(COL1A1):c.1405C>T (p.Arg469Ter)	SNV Germline	Chr17:50194777	Pathogenic	Condition: not provided Osteogenesis imperfecta type I	Criteria Provided Multiple Submitters No Conflicts	CA10588665	rs_762428889	4 SubmittersRCV000254741 RCV000818022
NM_000088.4(COL1A1):c.757C>T (p.Arg253Ter)	SNV Germline	Chr17:50197057	Pathogenic	Condition: not provided Osteogenesis imperfecta type I Osteogenesis imperfecta Osteogenesis imperfecta with normal sclerae, dominant form Osteogenesis imperfecta, perinatal lethal Osteogenesis imperfecta type III Osteogenesis imperfecta type I	Criteria Provided Multiple Submitters No Conflicts	CA10588666	rs_72645318	9 SubmittersRCV000255304 RCV000631490 RCV002278252 RCV004796141
NM_001235.5(SERPINH1):c.710T>C (p.Met237Thr)	SNV Germline	Chr11:75568818	Pathogenic/Likely pathogenic	Osteogenesis imperfecta type 10 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA10588848	rs_886039819	3 SubmittersRCV000256253 RCV002521861
NM_000088.4(COL1A1):c.3935G>A (p.Trp1312Ter)	SNV Germline	Chr17:50186387	Likely pathogenic	Osteogenesis imperfecta type I	No Assertion Criteria Provided	CA10588936	rs_886039880	1 SubmittersRCV000256401
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_000088.4(COL1A1):c.1875+5G>C	SNV Germline	Chr17:50192792	Pathogenic	Condition: not provided Osteogenesis imperfecta type I	Criteria Provided Multiple Submitters No Conflicts	CA10603456	rs_886041866	2 SubmittersRCV000263616 RCV002519062
NM_000089.4(COL1A2):c.3047C>A (p.Pro1016His)	SNV Germline	Chr7:94426472	Conflicting classifications of pathogenicity	Condition: not provided 6 conditions Ehlers-Danlos syndrome, arthrochalasia type, 2 Osteogenesis imperfecta Ehlers-Danlos syndrome, classic type, 1 Osteogenesis imperfecta type I Ehlers-Danlos syndrome Cardiovascular phenotype not specified Ehlers-Danlos syndrome, cardiac valvular type Ehlers-Danlos syndrome, arthrochalasia type Osteogenesis imperfecta	Criteria Provided Conflicting Classifications	CA4347649	rs_377278762	10 SubmittersRCV000723559 RCV000764736 RCV001162767 RCV001162768 RCV002229738 RCV002278258 RCV002446511 RCV005238819 RCV005863081
NM_000088.4(COL1A1):c.1005T>A (p.Gly335=)	SNV Germline	Chr17:50195974	Conflicting classifications of pathogenicity	not specified Osteogenesis imperfecta type I Ehlers-Danlos syndrome, arthrochalasia type Osteogenesis imperfecta Infantile cortical hyperostosis Condition: not provided Ehlers-Danlos syndrome Cardiovascular phenotype COL1A1-related disorder	Criteria Provided Conflicting Classifications	CA8645432	rs_375914028	9 SubmittersRCV000377775 RCV000631511 RCV001124862 RCV001124861 RCV001124863 RCV001711850 RCV002278262 RCV002411144 RCV004547656
NM_000088.4(COL1A1):c.2434G>A (p.Gly812Ser)	SNV Germline	Chr17:50190344	Pathogenic/Likely pathogenic	Condition: not provided Osteogenesis imperfecta COL1A1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA10603999	rs_886042260	3 SubmittersRCV000400501 RCV003479089 RCV004547659
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_001173467.3(SP7):c.1272G>A (p.Glu424=)	SNV Germline	Chr12:53328170	Conflicting classifications of pathogenicity	Condition: not provided Osteogenesis imperfecta type 12	Criteria Provided Conflicting Classifications	CA6599419	rs_182820275	4 SubmittersRCV000351342 RCV003640884
NM_000089.4(COL1A2):c.2904C>T (p.Pro968=)	SNV Germline	Chr7:94425818	Conflicting classifications of pathogenicity	Condition: not provided Ehlers-Danlos syndrome, classic type, 1 Osteogenesis imperfecta type I Ehlers-Danlos syndrome, arthrochalasia type, 2 Osteogenesis imperfecta Ehlers-Danlos syndrome Cardiovascular phenotype not specified	Criteria Provided Conflicting Classifications	CA4347595	rs_142352627	11 SubmittersRCV000710782 RCV001089359 RCV001161215 RCV001161216 RCV002278275 RCV002436101 RCV005238826
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 Clear cell carcinoma of kidney Colorectal cancer Hepatocellular carcinoma Lung cancer Colon adenocarcinoma Sarcoma Malignant tumor of urinary bladder Malignant tumor of esophagus Cervical cancer Familial cancer of breast Gastric cancer Ovarian serous cystadenocarcinoma Melanoma Acute myeloid leukemia	Criteria Provided Conflicting Classifications	CA801884	rs_113593896	12 SubmittersRCV000402019 RCV000487953 RCV001079324 RCV002278278 RCV003982984 RCV005895610 RCV005895611 RCV005895607 RCV005895616 RCV005895604 RCV005895612 RCV005895606 RCV005895608 RCV005895609 RCV005895603 RCV005895613 RCV005895614 RCV005895615 RCV005895605
NM_000088.4(COL1A1):c.2288G>A (p.Arg763His)	SNV Germline	Chr17:50190872	Conflicting classifications of pathogenicity	Condition: not provided Osteogenesis imperfecta type I See cases Cardiovascular phenotype not specified	Criteria Provided Conflicting Classifications	CA8644877	rs_144820445	8 SubmittersRCV000725475 RCV001051624 RCV004584379 RCV004992154 RCV005238836
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_000088.4(COL1A1):c.1249C>G (p.Pro417Ala)	SNV Germline	Chr17:50195282	Conflicting classifications of pathogenicity	not specified Osteogenesis imperfecta type I Infantile cortical hyperostosis Osteogenesis imperfecta Ehlers-Danlos syndrome, arthrochalasia type Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA8645333	rs_72648327	7 SubmittersRCV000307161 RCV000864424 RCV001127852 RCV001127854 RCV001127853 RCV001711856 RCV002401987
NM_006371.5(CRTAP):c.732C>T (p.Leu244=)	SNV Germline	Chr3:33124518	Conflicting classifications of pathogenicity	not specified Osteogenesis imperfecta type 7 Condition: not provided Osteogenesis imperfecta CRTAP-related disorder	Criteria Provided Conflicting Classifications	CA2300367	rs_149119710	8 SubmittersRCV000290568 RCV000551070 RCV001537842 RCV002278291 RCV003957435
NM_021939.4(FKBP10):c.21C>T (p.Pro7=)	SNV Germline	Chr17:41813055	Conflicting classifications of pathogenicity	Condition: not provided Osteogenesis imperfecta type 11	Criteria Provided Conflicting Classifications	CA8566108	rs_781985978	6 SubmittersRCV000333394 RCV000844865
NM_000088.4(COL1A1):c.3733A>T (p.Ile1245Phe)	SNV Germline	Chr17:50186721	Conflicting classifications of pathogenicity	Condition: not provided Ehlers-Danlos syndrome, arthrochalasia type Osteogenesis imperfecta Infantile cortical hyperostosis Osteogenesis imperfecta type I Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA8644370	rs_199514372	6 SubmittersRCV000319514 RCV001127366 RCV001127365 RCV001127367 RCV001296479 RCV002348009
NM_000088.4(COL1A1):c.2089C>T (p.Arg697Ter)	SNV Germline	Chr17:50191826	Pathogenic	Osteogenesis imperfecta type I Osteogenesis imperfecta with normal sclerae, dominant form Condition: not provided 7 conditions COL1A1-related disorder 8 conditions	Criteria Provided Multiple Submitters No Conflicts	CA10605745	rs_72651642	10 SubmittersRCV000358677 RCV000490669 RCV000497565 RCV000763409 RCV005869219 RCV004796153
NM_002335.4(LRP5):c.2124G>A (p.Ser708=)	SNV Germline	Chr11:68409946	Conflicting classifications of pathogenicity	Condition: not provided Osteogenesis imperfecta LRP5-related disorder	Criteria Provided Conflicting Classifications	CA6149545	rs_140977837	5 SubmittersRCV000263817 RCV002278304 RCV003909998
NM_000088.4(COL1A1):c.740C>T (p.Pro247Leu)	SNV Germline	Chr17:50197190	Conflicting classifications of pathogenicity	Condition: not provided Osteogenesis imperfecta type I Cardiovascular phenotype Ehlers-Danlos syndrome not specified COL1A1-related disorder	Criteria Provided Conflicting Classifications	CA8645573	rs_199626372	9 SubmittersRCV000346609 RCV000686753 RCV002379141 RCV002278310 RCV004782344 RCV004549603
NM_000089.4(COL1A2):c.1611+9T>A	SNV Germline	Chr7:94413752	Conflicting classifications of pathogenicity	Condition: not provided Ehlers-Danlos syndrome, arthrochalasia type, 2 Osteogenesis imperfecta Osteogenesis imperfecta type I Ehlers-Danlos syndrome, classic type, 1	Criteria Provided Conflicting Classifications	CA4347128	rs_200333208	3 SubmittersRCV000400906 RCV001164621 RCV001164622 RCV002229750
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_000089.4(COL1A2):c.2944-4A>T	SNV Germline	Chr7:94425994	Conflicting classifications of pathogenicity	not specified Condition: not provided Osteogenesis imperfecta type I Ehlers-Danlos syndrome, classic type, 1 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA4347620	rs_143220941	4 SubmittersRCV000396949 RCV000726182 RCV002059242 RCV004021256
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 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA801807	rs_149894086	6 SubmittersRCV000381836 RCV000756458 RCV002059256 RCV003910018 RCV006362218
NM_002615.7(SERPINF1):c.202G>C (p.Val68Leu)	SNV Germline	Chr17:1769969	Conflicting classifications of pathogenicity	Condition: not provided Osteogenesis imperfecta type 6 Osteogenesis imperfecta SERPINF1-related disorder	Criteria Provided Conflicting Classifications	CA8274569	rs_143827025	9 SubmittersRCV000360246 RCV000389606 RCV002278319 RCV003940071
NM_001235.5(SERPINH1):c.92G>C (p.Gly31Ala)	SNV Germline	Chr11:75566441	Conflicting classifications of pathogenicity	Condition: not provided Osteogenesis imperfecta type 10 SERPINH1-related disorder	Criteria Provided Conflicting Classifications	CA6190719	rs_140588417	6 SubmittersRCV000343777 RCV000387403 RCV003949952
NM_001025295.3(IFITM5):c.100C>T (p.Arg34Ter)	SNV Germline	Chr11:299391	Conflicting classifications of pathogenicity	Condition: not provided Osteogenesis imperfecta type 5	Criteria Provided Conflicting Classifications	CA5773490	rs_531009160	3 SubmittersRCV000286092 RCV000763734
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_182943.3(PLOD2):c.1732A>G (p.Ile578Val)	SNV Germline	Chr3:146073298	Conflicting classifications of pathogenicity	Bruck syndrome 2 Condition: not provided Osteogenesis imperfecta	Criteria Provided Conflicting Classifications	CA2654797	rs_558336915	3 SubmittersRCV000329070 RCV002057849 RCV002278536
NM_006371.5(CRTAP):c.282C>T (p.Pro94=)	SNV Germline	Chr3:33114359	Conflicting classifications of pathogenicity	Osteogenesis imperfecta type 7 Osteogenesis imperfecta CRTAP-related disorder	Criteria Provided Conflicting Classifications	CA2300239	rs_540998437	4 SubmittersRCV000391551 RCV002278542 RCV003932395
NM_006371.5(CRTAP):c.930C>T (p.Asp310=)	SNV Germline	Chr3:33132562	Conflicting classifications of pathogenicity	Osteogenesis imperfecta type 7	Criteria Provided Conflicting Classifications	CA10615647	rs_762039541	2 SubmittersRCV000322818
NM_006371.5(CRTAP):c.634C>T (p.Arg212Ter)	SNV Germline	Chr3:33124420	Pathogenic/Likely pathogenic	Osteogenesis imperfecta type 7	Criteria Provided Multiple Submitters No Conflicts	CA2300343	rs_137853944	4 SubmittersRCV000368253
NM_006371.5(CRTAP):c.1068+11T>C	SNV Germline	Chr3:33132711	Conflicting classifications of pathogenicity	Osteogenesis imperfecta type 7	Criteria Provided Conflicting Classifications	CA2300479	rs_761750861	2 SubmittersRCV000383107
NM_006371.5(CRTAP):c.-35C>T	SNV Germline	Chr3:33114043	Conflicting classifications of pathogenicity	Osteogenesis imperfecta type 7 not specified	Criteria Provided Conflicting Classifications	CA2300162	rs_567359532	2 SubmittersRCV000285629 RCV000418227
NM_006371.5(CRTAP):c.446A>G (p.Lys149Arg)	SNV Germline	Chr3:33114523	Conflicting classifications of pathogenicity	Osteogenesis imperfecta type 7 Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA2300276	rs_201564256	6 SubmittersRCV000559577 RCV001355127 RCV005407071
NM_000089.4(COL1A2):c.279+12T>C	SNV Germline	Chr7:94401632	Conflicting classifications of pathogenicity	Osteogenesis imperfecta Ehlers-Danlos syndrome, arthrochalasia type, 2 Ehlers-Danlos syndrome, classic type, 1 Osteogenesis imperfecta type I	Criteria Provided Conflicting Classifications	CA4346598	rs_751199493	2 SubmittersRCV000283180 RCV000340617 RCV002058681
NM_000089.4(COL1A2):c.1564C>T (p.Pro522Ser)	SNV Germline	Chr7:94413696	Conflicting classifications of pathogenicity	Osteogenesis imperfecta Ehlers-Danlos syndrome, arthrochalasia type, 2 Cardiovascular phenotype Osteogenesis imperfecta type I Ehlers-Danlos syndrome, classic type, 1 Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA4347121	rs_199732595	5 SubmittersRCV000309575 RCV000364117 RCV002402075 RCV002058685 RCV001764329 RCV006263909
NM_000089.4(COL1A2):c.2168A>G (p.Asn723Ser)	SNV Germline	Chr7:94420425	Conflicting classifications of pathogenicity	Ehlers-Danlos syndrome, arthrochalasia type, 2 Osteogenesis imperfecta Connective tissue disorder Condition: not provided Osteogenesis imperfecta type I Ehlers-Danlos syndrome, classic type, 1 Cardiovascular phenotype not specified	Criteria Provided Conflicting Classifications	CA4347339	rs_189374343	7 SubmittersRCV000307937 RCV000404554 RCV000659378 RCV001718783 RCV002229911 RCV002429325 RCV005238947
NM_000089.4(COL1A2):c.3014G>A (p.Arg1005His)	SNV Germline	Chr7:94426439	Conflicting classifications of pathogenicity	Osteogenesis imperfecta Ehlers-Danlos syndrome, arthrochalasia type, 2 Condition: not provided Cardiovascular phenotype Osteogenesis imperfecta type I Ehlers-Danlos syndrome, classic type, 1 not specified	Criteria Provided Conflicting Classifications	CA4347646	rs_200357942	5 SubmittersRCV000333439 RCV000387802 RCV001764330 RCV003168563 RCV002229913 RCV006268755
NM_006129.5(BMP1):c.2724C>T (p.Thr908=)	SNV Germline	Chr8:22209593	Conflicting classifications of pathogenicity	Osteogenesis imperfecta type 13 Condition: not provided Osteogenesis imperfecta	Criteria Provided Conflicting Classifications	CA4665345	rs_140092629	4 SubmittersRCV000305191 RCV000900084 RCV002278625
NM_000089.4(COL1A2):c.81+8A>C	SNV Germline	Chr7:94397766	Conflicting classifications of pathogenicity	Ehlers-Danlos syndrome, arthrochalasia type, 2 Osteogenesis imperfecta Connective tissue disorder Ehlers-Danlos syndrome, classic type, 1 Osteogenesis imperfecta type I	Criteria Provided Conflicting Classifications	CA4346456	rs_765118884	3 SubmittersRCV000272171 RCV000364665 RCV000659365 RCV003766071
NM_000089.4(COL1A2):c.1036-14G>T	SNV Germline	Chr7:94410228	Conflicting classifications of pathogenicity	Osteogenesis imperfecta Ehlers-Danlos syndrome, arthrochalasia type, 2 Osteogenesis imperfecta type I Ehlers-Danlos syndrome, classic type, 1	Criteria Provided Conflicting Classifications	CA4346917	rs_114322680	2 SubmittersRCV000286145 RCV000322286 RCV003766073
NM_000089.4(COL1A2):c.1051G>A (p.Ala351Thr)	SNV Germline	Chr7:94410257	Conflicting classifications of pathogenicity	Osteogenesis imperfecta Ehlers-Danlos syndrome, arthrochalasia type, 2 Osteogenesis imperfecta type I Ehlers-Danlos syndrome, classic type, 1 Intellectual disability Ehlers-Danlos syndrome, cardiac valvular type	Criteria Provided Conflicting Classifications	CA4346925	rs_755610740	4 SubmittersRCV000337632 RCV000405013 RCV002229985 RCV005625567 RCV004786671
NM_000089.4(COL1A2):c.2566-6A>G	SNV Germline	Chr7:94424330	Conflicting classifications of pathogenicity	Ehlers-Danlos syndrome, arthrochalasia type, 2 Osteogenesis imperfecta Connective tissue disorder Condition: not provided Osteogenesis imperfecta type I Ehlers-Danlos syndrome, classic type, 1 Ehlers-Danlos syndrome not specified Intellectual disability	Criteria Provided Conflicting Classifications	CA4347500	rs_141088934	10 SubmittersRCV000263221 RCV000299556 RCV000680489 RCV001697767 RCV002229989 RCV002278616 RCV005238949 RCV005625568
NM_000089.4(COL1A2):c.3754A>G (p.Thr1252Ala)	SNV Germline	Chr7:94429230	Conflicting classifications of pathogenicity	Ehlers-Danlos syndrome, arthrochalasia type, 2 Osteogenesis imperfecta Osteogenesis imperfecta type I Ehlers-Danlos syndrome, classic type, 1 Cardiovascular phenotype Condition: not provided	Criteria Provided Conflicting Classifications	CA4347849	rs_761465504	5 SubmittersRCV000274353 RCV000369007 RCV001861311 RCV004992186 RCV005230275
NM_000089.4(COL1A2):c.3883T>C (p.Ser1295Pro)	SNV Germline	Chr7:94429359	Conflicting classifications of pathogenicity	Osteogenesis imperfecta Ehlers-Danlos syndrome, arthrochalasia type, 2 Osteogenesis imperfecta type I Ehlers-Danlos syndrome, classic type, 1 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA4347875	rs_757449082	3 SubmittersRCV000284047 RCV000380433 RCV001861312 RCV004609369
NM_006129.5(BMP1):c.402C>T (p.Val134=)	SNV Germline	Chr8:22176282	Conflicting classifications of pathogenicity	Osteogenesis imperfecta type 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA4664247	rs_773025752	2 SubmittersRCV000401558 RCV002058717
NM_000089.4(COL1A2):c.693+12C>A	SNV Germline	Chr7:94408248	Conflicting classifications of pathogenicity	Ehlers-Danlos syndrome, arthrochalasia type, 2 Osteogenesis imperfecta Osteogenesis imperfecta type I Ehlers-Danlos syndrome, classic type, 1	Criteria Provided Conflicting Classifications	CA4346769	rs_767990110	2 SubmittersRCV000284363 RCV000339365 RCV003766072
NM_000089.4(COL1A2):c.2456G>A (p.Arg819His)	SNV Germline	Chr7:94423009	Conflicting classifications of pathogenicity	Ehlers-Danlos syndrome, arthrochalasia type, 2 Osteogenesis imperfecta Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 Osteogenesis imperfecta type I Ehlers-Danlos syndrome, classic type, 1 Cardiovascular phenotype Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA4347450	rs_773985005	9 SubmittersRCV000344148 RCV000394670 RCV001262348 RCV002229912 RCV002429326 RCV003159117 RCV005238948
NM_000089.4(COL1A2):c.3313G>A (p.Gly1105Ser)	SNV Germline	Chr7:94427672	Conflicting classifications of pathogenicity	Osteogenesis imperfecta Ehlers-Danlos syndrome, arthrochalasia type, 2 Condition: not provided not specified Connective tissue disorder Osteogenesis imperfecta type I Ehlers-Danlos syndrome, classic type, 1 Ehlers-Danlos syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA4347736	rs_139851311	12 SubmittersRCV000286436 RCV000342187 RCV000513852 RCV000432079 RCV000659381 RCV002229990 RCV002278617 RCV004022060
NM_000089.4(COL1A2):c.1971+5G>A	SNV Germline	Chr7:94417836	Conflicting classifications of pathogenicity	Ehlers-Danlos syndrome, arthrochalasia type, 2 Osteogenesis imperfecta Condition: not provided Ehlers-Danlos syndrome, classic type, 1 Osteogenesis imperfecta type I	Criteria Provided Conflicting Classifications	CA10629666	rs_375027186	3 SubmittersRCV000350991 RCV000386729 RCV001613205 RCV002229987
NM_006129.5(BMP1):c.1623C>T (p.Ala541=)	SNV Germline	Chr8:22194903	Conflicting classifications of pathogenicity	Osteogenesis imperfecta type 13 Condition: not provided Osteogenesis imperfecta	Criteria Provided Conflicting Classifications	CA4664720	rs_181639729	4 SubmittersRCV000366133 RCV002058720 RCV002278619
NM_006129.5(BMP1):c.2406C>T (p.Tyr802=)	SNV Germline	Chr8:22207347	Conflicting classifications of pathogenicity	Osteogenesis imperfecta type 13 Condition: not provided BMP1-related disorder	Criteria Provided Conflicting Classifications	CA4665235	rs_144666655	4 SubmittersRCV000387090 RCV000969540 RCV003922627
NM_006129.5(BMP1):c.2430G>T (p.Gly810=)	SNV Germline	Chr8:22207371	Conflicting classifications of pathogenicity	Osteogenesis imperfecta type 13 Condition: not provided BMP1-related disorder	Criteria Provided Conflicting Classifications	CA4665242	rs_374092044	4 SubmittersRCV000352461 RCV001551908 RCV003922628
NM_006129.5(BMP1):c.2445C>T (p.Ala815=)	SNV Germline	Chr8:22207386	Conflicting classifications of pathogenicity	Osteogenesis imperfecta type 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA4665252	rs_200867122	2 SubmittersRCV000381539 RCV002524559
NM_006129.5(BMP1):c.1317G>A (p.Val439=)	SNV Germline	Chr8:22194464	Conflicting classifications of pathogenicity	Osteogenesis imperfecta type 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA4664640	rs_373100053	2 SubmittersRCV000362174 RCV002058719
NM_001235.5(SERPINH1):c.481A>C (p.Ile161Leu)	SNV Germline	Chr11:75566830	Conflicting classifications of pathogenicity	Osteogenesis imperfecta type 10 Condition: not provided Osteogenesis imperfecta Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6190820	rs_112083274	4 SubmittersRCV000359789 RCV002056239 RCV002278386 RCV002520765
NM_001235.5(SERPINH1):c.492C>T (p.Arg164=)	SNV Germline	Chr11:75566841	Conflicting classifications of pathogenicity	Osteogenesis imperfecta type 10 Condition: not provided	Criteria Provided Conflicting Classifications	CA6190824	rs_150586616	4 SubmittersRCV000306124 RCV001558810
NM_001235.5(SERPINH1):c.298G>A (p.Glu100Lys)	SNV Germline	Chr11:75566647	Conflicting classifications of pathogenicity	Osteogenesis imperfecta type 10 Condition: not provided	Criteria Provided Conflicting Classifications	CA6190773	rs_749665611	3 SubmittersRCV000403806 RCV001396318
NM_001235.5(SERPINH1):c.600A>C (p.Leu200=)	SNV Germline	Chr11:75566949	Conflicting classifications of pathogenicity	Osteogenesis imperfecta type 10 Condition: not provided	Criteria Provided Conflicting Classifications	CA6190851	rs_764723506	2 SubmittersRCV000357410 RCV002056240
NM_001235.5(SERPINH1):c.*4C>G	SNV Germline	Chr11:75572087	Conflicting classifications of pathogenicity	Osteogenesis imperfecta type 10 Condition: not provided Osteogenesis imperfecta	Criteria Provided Conflicting Classifications	CA6191063	rs_550152153	4 SubmittersRCV000283052 RCV000597480 RCV002278388
NM_000088.4(COL1A1):c.*378C>G	SNV Germline	Chr17:50185124	Conflicting classifications of pathogenicity	Osteogenesis imperfecta Infantile cortical hyperostosis Ehlers-Danlos syndrome, arthrochalasia type Condition: not provided	Criteria Provided Conflicting Classifications	CA10640055	rs_148131473	2 SubmittersRCV000282462 RCV000316593 RCV000374673 RCV002510861
NM_000088.4(COL1A1):c.3099+7T>C	SNV Germline	Chr17:50188735	Conflicting classifications of pathogenicity	Infantile cortical hyperostosis Ehlers-Danlos syndrome, arthrochalasia type Osteogenesis imperfecta not specified Condition: not provided Connective tissue disorder Osteogenesis imperfecta type I Ehlers-Danlos syndrome	Criteria Provided Conflicting Classifications	CA8644578	rs_201682029	14 SubmittersRCV000291739 RCV000346597 RCV000399463 RCV000444155 RCV000527323 RCV000659356 RCV001087478 RCV002278492
NM_000088.4(COL1A1):c.2743C>T (p.Pro915Ser)	SNV Germline	Chr17:50189463	Conflicting classifications of pathogenicity	Osteogenesis imperfecta Ehlers-Danlos syndrome, arthrochalasia type Infantile cortical hyperostosis Condition: not provided Osteogenesis imperfecta type I Ehlers-Danlos syndrome not specified	Criteria Provided Conflicting Classifications	CA8644692	rs_756337302	5 SubmittersRCV000283301 RCV000343018 RCV000392300 RCV001533845 RCV001345234 RCV002278493 RCV005238907
NM_000088.4(COL1A1):c.1233C>T (p.Phe411=)	SNV Germline	Chr17:50195298	Conflicting classifications of pathogenicity	Ehlers-Danlos syndrome, arthrochalasia type Infantile cortical hyperostosis Osteogenesis imperfecta not specified Osteogenesis imperfecta type I Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA8645341	rs_776387246	5 SubmittersRCV000297504 RCV000355103 RCV000404386 RCV000609843 RCV001411271 RCV002374553
NM_000942.5(PPIB):c.597C>T (p.Ile199=)	SNV Germline	Chr15:64156077	Conflicting classifications of pathogenicity	Osteogenesis imperfecta type 9 Condition: not provided	Criteria Provided Conflicting Classifications	CA7608430	rs_369889089	3 SubmittersRCV000296866 RCV000930750
NM_002615.7(SERPINF1):c.85-14C>T	SNV Germline	Chr17:1769838	Conflicting classifications of pathogenicity	Osteogenesis imperfecta type 6 Condition: not provided	Criteria Provided Conflicting Classifications	CA8274532	rs_200755661	3 SubmittersRCV000273659 RCV002056559
NM_002615.7(SERPINF1):c.643+6C>T	SNV Germline	Chr17:1772081	Conflicting classifications of pathogenicity	Osteogenesis imperfecta type 6 Condition: not provided	Criteria Provided Conflicting Classifications	CA8274760	rs_199908714	3 SubmittersRCV000398020 RCV001565046
NM_002615.7(SERPINF1):c.1119C>G (p.Pro373=)	SNV Germline	Chr17:1777308	Conflicting classifications of pathogenicity	Osteogenesis imperfecta type 6 Condition: not provided	Criteria Provided Conflicting Classifications	CA8274963	rs_148717983	2 SubmittersRCV000318099 RCV002061218
NM_021939.4(FKBP10):c.1098C>T (p.Phe366=)	SNV Germline	Chr17:41820303	Conflicting classifications of pathogenicity	Osteogenesis imperfecta type 11 Condition: not provided	Criteria Provided Conflicting Classifications	CA10645647	rs_886052923	2 SubmittersRCV000297418 RCV003765878
NM_000088.4(COL1A1):c.3630C>T (p.His1210=)	SNV Germline	Chr17:50186824	Conflicting classifications of pathogenicity	Infantile cortical hyperostosis Osteogenesis imperfecta Ehlers-Danlos syndrome, arthrochalasia type Osteogenesis imperfecta type I Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA8644385	rs_745320719	3 SubmittersRCV000287980 RCV000347596 RCV000407725 RCV002522988 RCV003168478
NM_000088.4(COL1A1):c.3424-6C>A	SNV Germline	Chr17:50187128	Conflicting classifications of pathogenicity	Infantile cortical hyperostosis Osteogenesis imperfecta Ehlers-Danlos syndrome, arthrochalasia type Osteogenesis imperfecta type I Condition: not provided not specified Ovarian serous cystadenocarcinoma Uterine corpus endometrial carcinoma	Criteria Provided Conflicting Classifications	CA8644438	rs_370865189	8 SubmittersRCV000304006 RCV000354143 RCV000404536 RCV000543436 RCV001718678 RCV005407058 RCV005894644 RCV005894645
NM_000088.4(COL1A1):c.3099+7T>G	SNV Germline	Chr17:50188735	Conflicting classifications of pathogenicity	Infantile cortical hyperostosis Osteogenesis imperfecta Ehlers-Danlos syndrome, arthrochalasia type Condition: not provided Osteogenesis imperfecta type I	Criteria Provided Conflicting Classifications	CA10646180	rs_201682029	3 SubmittersRCV000295387 RCV000326966 RCV000381638 RCV004694340 RCV005090493
NM_000088.4(COL1A1):c.1002+10G>T	SNV Germline	Chr17:50196145	Conflicting classifications of pathogenicity	Osteogenesis imperfecta Infantile cortical hyperostosis Ehlers-Danlos syndrome, arthrochalasia type not specified Osteogenesis imperfecta type I Condition: not provided Ehlers-Danlos syndrome	Criteria Provided Conflicting Classifications	CA8645452	rs_368316440	6 SubmittersRCV000275662 RCV000333042 RCV000389869 RCV000730396 RCV001080239 RCV000841032 RCV002278496
NM_000088.4(COL1A1):c.627C>T (p.Gly209=)	SNV Germline	Chr17:50197964	Conflicting classifications of pathogenicity	Ehlers-Danlos syndrome, arthrochalasia type Infantile cortical hyperostosis Osteogenesis imperfecta Condition: not provided Osteogenesis imperfecta type I Ehlers-Danlos syndrome Cardiovascular phenotype Colon adenocarcinoma Familial cancer of breast Clear cell carcinoma of kidney Thyroid cancer, nonmedullary, 1	Criteria Provided Conflicting Classifications	CA8645632	rs_201136122	8 SubmittersRCV000298870 RCV000355982 RCV000392198 RCV000726816 RCV001079759 RCV002278497 RCV002365387 RCV005894647 RCV005894646 RCV005894648 RCV005894649
NM_000088.4(COL1A1):c.528C>T (p.Ser176=)	SNV Germline	Chr17:50198448	Conflicting classifications of pathogenicity	Ehlers-Danlos syndrome, arthrochalasia type Osteogenesis imperfecta Infantile cortical hyperostosis Osteogenesis imperfecta type I Condition: not provided Cardiovascular phenotype not specified	Criteria Provided Conflicting Classifications	CA8645681	rs_748856187	5 SubmittersRCV000276290 RCV000311677 RCV000368586 RCV000542211 RCV001555722 RCV002348068 RCV005238908
NM_000088.4(COL1A1):c.229G>A (p.Glu77Lys)	SNV Germline	Chr17:50199822	Conflicting classifications of pathogenicity	Infantile cortical hyperostosis Osteogenesis imperfecta Ehlers-Danlos syndrome, arthrochalasia type Osteogenesis imperfecta type I	Criteria Provided Conflicting Classifications	CA8645806	rs_753683126	2 SubmittersRCV000278484 RCV000323135 RCV000380061 RCV002522989
NM_000088.4(COL1A1):c.-23G>A	SNV Germline	Chr17:50201536	Conflicting classifications of pathogenicity	Infantile cortical hyperostosis Osteogenesis imperfecta Ehlers-Danlos syndrome, arthrochalasia type	Criteria Provided Conflicting Classifications	CA8645899	rs_200689194	1 SubmittersRCV000302289 RCV000365246 RCV000392860
NM_002615.7(SERPINF1):c.840G>T (p.Leu280=)	SNV Germline	Chr17:1776585	Conflicting classifications of pathogenicity	Osteogenesis imperfecta type 6 Condition: not provided	Criteria Provided Conflicting Classifications	CA8274874	rs_200114659	2 SubmittersRCV000275737 RCV002056564
NM_000088.4(COL1A1):c.*1165C>G	SNV Germline	Chr17:50184337	Conflicting classifications of pathogenicity	Infantile cortical hyperostosis Osteogenesis imperfecta Ehlers-Danlos syndrome, arthrochalasia type Condition: not provided	Criteria Provided Conflicting Classifications	CA10649639	rs_149419718	3 SubmittersRCV000261749 RCV000319203 RCV000377245 RCV001848666
NM_000088.4(COL1A1):c.*202A>G	SNV Germline	Chr17:50185300	Conflicting classifications of pathogenicity	Ehlers-Danlos syndrome, arthrochalasia type Infantile cortical hyperostosis Osteogenesis imperfecta Condition: not provided	Criteria Provided Conflicting Classifications	CA10649649	rs_564917505	2 SubmittersRCV000270815 RCV000315320 RCV000369990 RCV002510862
NM_000088.4(COL1A1):c.4372G>A (p.Val1458Ile)	SNV Germline	Chr17:50185525	Conflicting classifications of pathogenicity	Infantile cortical hyperostosis Ehlers-Danlos syndrome, arthrochalasia type Osteogenesis imperfecta Osteogenesis imperfecta type I Condition: not provided Cardiovascular phenotype not specified	Criteria Provided Conflicting Classifications	CA8644169	rs_138557594	5 SubmittersRCV000313055 RCV000338677 RCV000407503 RCV000798385 RCV001590959 RCV005318373 RCV005431615
NM_000088.4(COL1A1):c.3233T>C (p.Val1078Ala)	SNV Germline	Chr17:50188124	Conflicting classifications of pathogenicity	Osteogenesis imperfecta Ehlers-Danlos syndrome, arthrochalasia type Infantile cortical hyperostosis Condition: not provided Osteogenesis imperfecta type I 7 conditions Cardiovascular phenotype Ehlers-Danlos syndrome COL1A1-related disorder	Criteria Provided Conflicting Classifications	CA8644518	rs_767525556	7 SubmittersRCV000259210 RCV000319126 RCV000355446 RCV000521091 RCV000695671 RCV000765369 RCV002323528 RCV002278491 RCV004737438
NM_000088.4(COL1A1):c.2467C>G (p.Pro823Ala)	SNV Germline	Chr17:50190093	Conflicting classifications of pathogenicity	Infantile cortical hyperostosis Ehlers-Danlos syndrome, arthrochalasia type Osteogenesis imperfecta Condition: not provided Osteogenesis imperfecta type I Ehlers-Danlos syndrome Cardiovascular phenotype COL1A1-related disorder	Criteria Provided Conflicting Classifications	CA8644787	rs_1800214	7 SubmittersRCV000268773 RCV000315437 RCV000363370 RCV000438177 RCV001087908 RCV002278494 RCV002446584 RCV004549711
NM_021939.4(FKBP10):c.520G>A (p.Gly174Ser)	SNV Germline	Chr17:41818217	Conflicting classifications of pathogenicity	Osteogenesis imperfecta type 11 Condition: not provided Bruck syndrome 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8566264	rs_140950528	5 SubmittersRCV000352068 RCV002522960 RCV001329235 RCV004021702
NM_021939.4(FKBP10):c.573C>T (p.Phe191=)	SNV Germline	Chr17:41818270	Conflicting classifications of pathogenicity	Osteogenesis imperfecta type 11 Condition: not provided	Criteria Provided Conflicting Classifications	CA8566280	rs_577264401	2 SubmittersRCV000381080 RCV002056598
NM_021939.4(FKBP10):c.825C>A (p.Leu275=)	SNV Germline	Chr17:41819307	Conflicting classifications of pathogenicity	Osteogenesis imperfecta type 11 Condition: not provided	Criteria Provided Conflicting Classifications	CA8566373	rs_782638955	2 SubmittersRCV000301017 RCV000942336
NM_021939.4(FKBP10):c.984G>A (p.Gln328=)	SNV Germline	Chr17:41819596	Conflicting classifications of pathogenicity	Osteogenesis imperfecta type 11 Condition: not provided	Criteria Provided Conflicting Classifications	CA8566447	rs_566306530	2 SubmittersRCV000337131 RCV003765877
NM_000088.4(COL1A1):c.*981G>C	SNV Germline	Chr17:50184521	Conflicting classifications of pathogenicity	Osteogenesis imperfecta Infantile cortical hyperostosis Ehlers-Danlos syndrome, arthrochalasia type Condition: not provided	Criteria Provided Conflicting Classifications	CA10650523	rs_574167621	2 SubmittersRCV000301902 RCV000340545 RCV000402935 RCV003409509
NM_000088.4(COL1A1):c.*21G>C	SNV Germline	Chr17:50185481	Conflicting classifications of pathogenicity	Osteogenesis imperfecta Infantile cortical hyperostosis Ehlers-Danlos syndrome, arthrochalasia type	Criteria Provided Conflicting Classifications	CA8644160	rs_201085309	1 SubmittersRCV000279151 RCV000342367 RCV000373598
NM_000088.4(COL1A1):c.3815-12G>T	SNV Germline	Chr17:50186519	Conflicting classifications of pathogenicity	Osteogenesis imperfecta Infantile cortical hyperostosis Ehlers-Danlos syndrome, arthrochalasia type Condition: not provided Osteogenesis imperfecta type I not specified	Criteria Provided Conflicting Classifications	CA8644332	rs_201066018	4 SubmittersRCV000292780 RCV000351084 RCV000387080 RCV000827217 RCV002056611 RCV004782357
NM_000088.4(COL1A1):c.3169G>A (p.Val1057Ile)	SNV Germline	Chr17:50188568	Conflicting classifications of pathogenicity	Ehlers-Danlos syndrome, arthrochalasia type Infantile cortical hyperostosis Osteogenesis imperfecta 7 conditions Condition: not provided Osteogenesis imperfecta type I not specified	Criteria Provided Conflicting Classifications	CA8644548	rs_575285203	5 SubmittersRCV000274658 RCV000329876 RCV000389062 RCV000765370 RCV000828389 RCV001084727 RCV006458262
NM_000088.4(COL1A1):c.649A>T (p.Met217Leu)	SNV Germline	Chr17:50197779	Conflicting classifications of pathogenicity	Infantile cortical hyperostosis Osteogenesis imperfecta Ehlers-Danlos syndrome, arthrochalasia type Condition: not provided Osteogenesis imperfecta type I	Criteria Provided Conflicting Classifications	CA10650543	rs_763409550	3 SubmittersRCV000285300 RCV000342628 RCV000392202 RCV000710774 RCV002521115
NM_000088.4(COL1A1):c.334-5C>A	SNV Germline	Chr17:50199458	Conflicting classifications of pathogenicity	Ehlers-Danlos syndrome, arthrochalasia type Infantile cortical hyperostosis Osteogenesis imperfecta Condition: not provided Osteogenesis imperfecta type I See cases Cardiovascular phenotype COL1A1-related disorder	Criteria Provided Conflicting Classifications	CA8645741	rs_115997082	7 SubmittersRCV000271447 RCV000333833 RCV000362772 RCV000497393 RCV001514913 RCV002252095 RCV002323529 RCV004549712
NM_000089.4(COL1A2):c.2512G>A (p.Gly838Ser)	SNV Germline	Chr7:94423065	Likely pathogenic	Osteogenesis imperfecta, perinatal lethal	Criteria Provided Single Submitter	CA10654759	rs_1057516036	1 SubmittersRCV000408630
NM_003118.4(SPARC):c.497G>A (p.Arg166His)	SNV Germline	Chr5:151667555	Pathogenic	Osteogenesis imperfecta type 17	No Assertion Criteria Provided	CA16042210	rs_1057517662	1 SubmittersRCV000412625
NM_003118.4(SPARC):c.787G>A (p.Glu263Lys)	SNV Germline	Chr5:151664183	Pathogenic	Osteogenesis imperfecta type 17	No Assertion Criteria Provided	CA16042211	rs_1057517663	1 SubmittersRCV000412523
NM_000089.4(COL1A2):c.586G>T (p.Gly196Cys)	SNV Germline	Chr7:94406295	Pathogenic	Condition: not provided Ehlers-Danlos syndrome, classic type, 1 Osteogenesis imperfecta type I	Criteria Provided Multiple Submitters No Conflicts	CA16042602	rs_1057517953	2 SubmittersRCV000414693 RCV001861415
NM_000089.4(COL1A2):c.2531G>C (p.Gly844Ala)	SNV Germline	Chr7:94423084	Likely pathogenic	Condition: not provided Osteogenesis imperfecta type I Ehlers-Danlos syndrome, classic type, 1	Criteria Provided Multiple Submitters No Conflicts	CA16042607	rs_928361235	2 SubmittersRCV000414112 RCV002230748
NM_000089.4(COL1A2):c.3853A>C (p.Asn1285His)	SNV Germline	Chr7:94429329	Conflicting classifications of pathogenicity	not specified Condition: not provided 6 conditions Osteogenesis imperfecta Ehlers-Danlos syndrome, arthrochalasia type, 2 Ehlers-Danlos syndrome Osteogenesis imperfecta type I Ehlers-Danlos syndrome, classic type, 1 Cardiovascular phenotype 7 conditions	Criteria Provided Conflicting Classifications	CA4347868	rs_144797861	11 SubmittersRCV000413044 RCV000585259 RCV000764737 RCV001164957 RCV001164958 RCV002278645 RCV002230749 RCV002356509 RCV005033943
NM_000088.4(COL1A1):c.1354-12G>A	SNV Germline	Chr17:50194840	Pathogenic	Condition: not provided Osteogenesis imperfecta type I	Criteria Provided Multiple Submitters No Conflicts	CA16042996	rs_72648337	7 SubmittersRCV000413747 RCV000490653
NM_000088.4(COL1A1):c.804+1G>C	SNV Germline	Chr17:50197009	Pathogenic	Blue sclerae Osteopenia Increased susceptibility to fractures Osteogenesis imperfecta with normal sclerae, dominant form Osteogenesis imperfecta type I	Criteria Provided Multiple Submitters No Conflicts	CA16043534	rs_1057518930	2 SubmittersRCV000415384 RCV001198517 RCV003517190
NM_022167.4(XYLT2):c.2312A>G (p.Asn771Ser)	SNV Germline	Chr17:50360005	Conflicting classifications of pathogenicity	Condition: not provided Osteogenesis imperfecta XYLT2-related disorder	Criteria Provided Conflicting Classifications	CA8646711	rs_199705453	4 SubmittersRCV000435769 RCV002278652 RCV003950341
NM_000478.6(ALPL):c.227A>G (p.Gln76Arg)	SNV Germline	Chr1:21561142	Pathogenic/Likely pathogenic	Condition: not provided Osteogenesis imperfecta Adult hypophosphatasia Hypophosphatasia	Criteria Provided Multiple Submitters No Conflicts	CA16603529	rs_1057521085	5 SubmittersRCV000418683 RCV002278676 RCV004567908 RCV005645085
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 Colon adenocarcinoma Lung cancer Malignant tumor of esophagus Cervical cancer	Criteria Provided Conflicting Classifications	CA801839	rs_114044880	6 SubmittersRCV000423443 RCV000766765 RCV001087130 RCV001097774 RCV005898046 RCV005898049 RCV005898047 RCV005898048
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	6 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	7 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 type 8 Osteogenesis Imperfecta, Recessive Osteogenesis imperfecta	Criteria Provided Conflicting Classifications	CA801693	rs_34809608	6 SubmittersRCV000442874 RCV001001467 RCV001099457 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	6 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	7 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	4 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	6 SubmittersRCV000422896 RCV001001469 RCV001099567 RCV002278666
NM_000089.4(COL1A2):c.304C>T (p.Pro102Ser)	SNV Germline	Chr7:94404580	Conflicting classifications of pathogenicity	not specified Connective tissue disorder Condition: not provided Osteogenesis imperfecta type I Ehlers-Danlos syndrome, classic type, 1 Ehlers-Danlos syndrome, arthrochalasia type, 2 Osteogenesis imperfecta Ehlers-Danlos syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA4346618	rs_189557655	14 SubmittersRCV000440701 RCV000659368 RCV000710783 RCV001080558 RCV001159492 RCV001159491 RCV002278662 RCV002446665
NM_000089.4(COL1A2):c.407G>A (p.Gly136Asp)	SNV Germline	Chr7:94404867	Pathogenic	Condition: not provided Osteogenesis imperfecta type I Ehlers-Danlos syndrome, classic type, 1	Criteria Provided Multiple Submitters No Conflicts	CA16605302	rs_1057524847	2 SubmittersRCV000430596 RCV002230081
NM_000089.4(COL1A2):c.2082C>T (p.Gly694=)	SNV Germline	Chr7:94420235	Conflicting classifications of pathogenicity	not specified Ehlers-Danlos syndrome, classic type, 1 Osteogenesis imperfecta type I Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA4347308	rs_193229878	4 SubmittersRCV000429978 RCV001851082 RCV005630736 RCV003298454
NM_000089.4(COL1A2):c.2853T>C (p.Pro951=)	SNV Germline	Chr7:94425767	Conflicting classifications of pathogenicity	Osteogenesis imperfecta Ehlers-Danlos syndrome, arthrochalasia type, 2 Ehlers-Danlos syndrome, classic type, 1 Osteogenesis imperfecta type I Condition: not provided COL1A2-related disorder Cardiovascular phenotype not specified	Criteria Provided Conflicting Classifications	CA4347584	rs_148362963	7 SubmittersRCV001161209 RCV001161210 RCV002230076 RCV001712304 RCV003959995 RCV002436346 RCV005407108
NM_000088.4(COL1A1):c.3979G>A (p.Gly1327Ser)	SNV Germline	Chr17:50186343	Conflicting classifications of pathogenicity	Condition: not provided Osteogenesis imperfecta type I Cardiovascular phenotype not specified	Criteria Provided Conflicting Classifications	CA8644306	rs_147104425	5 SubmittersRCV000426862 RCV002056678 RCV004992218 RCV006458361
NM_000088.4(COL1A1):c.3237C>A (p.Gly1079=)	SNV Germline	Chr17:50188120	Conflicting classifications of pathogenicity	Connective tissue disorder Osteogenesis imperfecta type I Condition: not provided Ehlers-Danlos syndrome Cardiovascular phenotype not specified	Criteria Provided Conflicting Classifications	CA8644516	rs_374853330	6 SubmittersRCV000659357 RCV001471006 RCV001698284 RCV002279205 RCV002446732 RCV004800408
NM_000088.4(COL1A1):c.2944C>A (p.Pro982Thr)	SNV Germline	Chr17:50189004	Conflicting classifications of pathogenicity	Condition: not provided Osteogenesis imperfecta type I Cardiovascular phenotype not specified	Criteria Provided Conflicting Classifications	CA8644629	rs_141117382	7 SubmittersRCV000429625 RCV000631461 RCV002436327 RCV005404562
NM_000088.4(COL1A1):c.3106C>T (p.Arg1036Cys)	SNV Germline	Chr17:50188631	Conflicting classifications of pathogenicity	Condition: not provided Osteogenesis imperfecta type I Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA8644558	rs_72653177	3 SubmittersRCV000435717 RCV001865338 RCV004022348
NM_000088.4(COL1A1):c.1249C>T (p.Pro417Ser)	SNV Germline	Chr17:50195282	Conflicting classifications of pathogenicity	not specified Osteogenesis imperfecta type I Condition: not provided Ehlers-Danlos syndrome, arthrochalasia type Osteogenesis imperfecta Infantile cortical hyperostosis Ehlers-Danlos syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA8645334	rs_72648327	7 SubmittersRCV000434641 RCV000540512 RCV000766720 RCV001125756 RCV001127851 RCV001125757 RCV002279198 RCV004609378
NM_000088.4(COL1A1):c.4339G>A (p.Val1447Ile)	SNV Germline	Chr17:50185558	Conflicting classifications of pathogenicity	Condition: not provided Osteogenesis imperfecta Ehlers-Danlos syndrome, arthrochalasia type Infantile cortical hyperostosis Osteogenesis imperfecta type I	Criteria Provided Conflicting Classifications	CA8644177	rs_367952133	3 SubmittersRCV000430536 RCV001126857 RCV001126859 RCV001126858 RCV002521553
NM_000088.4(COL1A1):c.1375C>A (p.Pro459Thr)	SNV Germline	Chr17:50194807	Conflicting classifications of pathogenicity	Condition: not provided Osteogenesis imperfecta type I 7 conditions	Criteria Provided Conflicting Classifications	CA8645265	rs_751299130	3 SubmittersRCV000422156 RCV000631495 RCV000765371
NM_000088.4(COL1A1):c.2559T>A (p.Ile853=)	SNV Germline	Chr17:50190001	Conflicting classifications of pathogenicity	not specified Osteogenesis imperfecta type I	Criteria Provided Conflicting Classifications	CA8644775	rs_764910205	2 SubmittersRCV000442408 RCV002525486
NM_000088.4(COL1A1):c.1875+8T>A	SNV Germline	Chr17:50192789	Conflicting classifications of pathogenicity	not specified Osteogenesis imperfecta type I Condition: not provided	Criteria Provided Conflicting Classifications	CA8645053	rs_756572885	3 SubmittersRCV000423444 RCV002063629 RCV004567925
NM_000088.4(COL1A1):c.1515+6C>T	SNV Germline	Chr17:50194567	Conflicting classifications of pathogenicity	Condition: not provided Osteogenesis imperfecta type I	Criteria Provided Conflicting Classifications	CA8645232	rs_369422507	3 SubmittersRCV001704522 RCV005090845
NM_000089.4(COL1A2):c.739G>T (p.Gly247Cys)	SNV Germline	Chr7:94408770	Pathogenic/Likely pathogenic	Condition: not provided Osteogenesis imperfecta COL1A2-related disorder Osteogenesis imperfecta type I Ehlers-Danlos syndrome, classic type, 1	Criteria Provided Multiple Submitters No Conflicts	CA16618573	rs_1064794058	4 SubmittersRCV000478737 RCV001260277 RCV004545772 RCV005222957
NM_000089.4(COL1A2):c.1054G>A (p.Gly352Ser)	SNV Germline	Chr7:94410260	Pathogenic/Likely pathogenic	Condition: not provided Ehlers-Danlos syndrome, classic type, 1 Osteogenesis imperfecta type I	Criteria Provided Multiple Submitters No Conflicts	CA16618574	rs_1064796419	3 SubmittersRCV000486920 RCV003766718
NM_000089.4(COL1A2):c.2314G>A (p.Gly772Ser)	SNV Germline	Chr7:94421027	Pathogenic/Likely pathogenic	Condition: not provided Osteogenesis imperfecta with normal sclerae, dominant form Osteogenesis imperfecta type I Ehlers-Danlos syndrome, classic type, 1 Osteogenesis imperfecta Ehlers-Danlos syndrome, arthrochalasia type, 2	Criteria Provided Multiple Submitters No Conflicts	CA16618576	rs_72658185	9 SubmittersRCV000481739 RCV002244949 RCV002230922 RCV002279242 RCV003988847
NM_000088.4(COL1A1):c.3196C>T (p.Arg1066Cys)	SNV Germline	Chr17:50188541	Conflicting classifications of pathogenicity	Condition: not provided Osteogenesis imperfecta type I Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 Cardiovascular phenotype not specified	Criteria Provided Conflicting Classifications	CA8644546	rs_72654799	7 SubmittersRCV000485287 RCV000794277 RCV001270299 RCV002323823 RCV005056048
NM_000088.4(COL1A1):c.3065G>T (p.Gly1022Val)	SNV Germline	Chr17:50188776	Pathogenic/Likely pathogenic	Condition: not provided Osteogenesis imperfecta Osteogenesis imperfecta type I Osteogenesis imperfecta, perinatal lethal	Criteria Provided Multiple Submitters No Conflicts	CA16620475	rs_67771061	6 SubmittersRCV000478094 RCV002279243 RCV003333748 RCV006454678
NM_000088.4(COL1A1):c.1691G>A (p.Arg564His)	SNV Germline	Chr17:50194019	Conflicting classifications of pathogenicity	Osteogenesis imperfecta type I Infantile cortical hyperostosis Osteogenesis imperfecta Ehlers-Danlos syndrome, arthrochalasia type Condition: not provided Ehlers-Danlos syndrome Cardiovascular phenotype COL1A1-related disorder not specified	Criteria Provided Conflicting Classifications	CA8645135	rs_1800211	12 SubmittersRCV000659352 RCV001125672 RCV001125674 RCV001125673 RCV001508818 RCV002279235 RCV002413314 RCV004737549 RCV005239063
NM_000088.4(COL1A1):c.768C>T (p.Pro256=)	SNV Germline	Chr17:50197046	Conflicting classifications of pathogenicity	Condition: not provided Osteogenesis imperfecta type I Cardiovascular phenotype Osteogenesis imperfecta	Criteria Provided Conflicting Classifications	CA8645556	rs_199891984	5 SubmittersRCV000488066 RCV002056811 RCV002404277 RCV002279251
NM_000089.4(COL1A2):c.540+8C>T	SNV Germline	Chr7:94405734	Conflicting classifications of pathogenicity	Condition: not provided Ehlers-Danlos syndrome, classic type, 1 Osteogenesis imperfecta type I	Criteria Provided Conflicting Classifications	CA16621856	rs_1064797337	2 SubmittersRCV000487607 RCV003766736
NM_000089.4(COL1A2):c.326G>A (p.Gly109Asp)	SNV Germline	Chr7:94404694	Pathogenic/Likely pathogenic	Osteogenesis imperfecta type I Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 Cardiovascular phenotype Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA368219522	rs_1114167416	5 SubmittersRCV000490674 RCV001270303 RCV002446951 RCV004701539
NM_000089.4(COL1A2):c.793G>C (p.Gly265Arg)	SNV Germline	Chr7:94409322	Pathogenic	Osteogenesis imperfecta type I Ehlers-Danlos syndrome, classic type, 1 Osteogenesis imperfecta type I	Criteria Provided Single Submitter	CA368220540	rs_1114167417	2 SubmittersRCV000490663 RCV002527011
NM_000089.4(COL1A2):c.794G>A (p.Gly265Asp)	SNV Germline	Chr7:94409323	Pathogenic	Osteogenesis imperfecta with normal sclerae, dominant form Ehlers-Danlos syndrome, classic type, 1 Osteogenesis imperfecta type I	Criteria Provided Single Submitter	CA162919498	rs_72656386	2 SubmittersRCV000490709 RCV001851298
NM_000089.4(COL1A2):c.856G>A (p.Gly286Ser)	SNV Germline	Chr7:94409385	Pathogenic	Osteogenesis imperfecta type I Ehlers-Danlos syndrome, classic type, 1 Osteogenesis imperfecta type I Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA368220655	rs_1114167418	3 SubmittersRCV000490758 RCV003766738 RCV005429248
NM_000089.4(COL1A2):c.874G>A (p.Gly292Ser)	SNV Germline	Chr7:94409403	Pathogenic	Osteogenesis imperfecta with normal sclerae, dominant form Condition: not provided Ehlers-Danlos syndrome, classic type, 1 Osteogenesis imperfecta type I Osteogenesis imperfecta, perinatal lethal	Criteria Provided Multiple Submitters No Conflicts	CA162919734	rs_906553840	5 SubmittersRCV000490666 RCV002244956 RCV002230967 RCV002289658
NM_000089.4(COL1A2):c.992G>A (p.Gly331Asp)	SNV Unknown	Chr7:94409778	Pathogenic	Osteogenesis imperfecta type III	No Assertion Criteria Provided	CA162920336	rs_67729041	1 SubmittersRCV000490716
NM_000089.4(COL1A2):c.1009G>A (p.Gly337Ser)	SNV Germline	Chr7:94409795	Pathogenic	Osteogenesis imperfecta type I Ehlers-Danlos syndrome, classic type Osteogenesis imperfecta type III Osteogenesis imperfecta with normal sclerae, dominant form Osteogenesis imperfecta type III Condition: not provided Osteogenesis imperfecta type I Ehlers-Danlos syndrome, classic type, 1 Osteogenesis imperfecta Ehlers-Danlos syndrome Ehlers-Danlos syndrome, arthrochalasia type, 2 COL1A2-related disorder Osteogenesis imperfecta with normal sclerae, dominant form	Criteria Provided Multiple Submitters No Conflicts	CA162920380	rs_67865220	16 SubmittersRCV000490720 RCV000987924 RCV000993573 RCV001250519 RCV001553203 RCV002230964 RCV002279258 RCV003987562 RCV003989538 RCV004535542 RCV005627100
NM_000089.4(COL1A2):c.1162G>C (p.Gly388Arg)	SNV Unknown	Chr7:94410492	Pathogenic	Osteogenesis imperfecta type III	No Assertion Criteria Provided	CA368221282	rs_1114167412	1 SubmittersRCV000490763
NM_000089.4(COL1A2):c.1171G>A (p.Gly391Ser)	SNV Germline	Chr7:94410501	Pathogenic/Likely pathogenic	Osteogenesis imperfecta with normal sclerae, dominant form Condition: not provided Dentinogenesis imperfecta Osteogenesis imperfecta Osteogenesis imperfecta type I Ehlers-Danlos syndrome, classic type, 1 COL1A2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA162921172	rs_67707918	6 SubmittersRCV000490690 RCV001575452 RCV001778978 RCV002279259 RCV002230965 RCV004742449
NM_000089.4(COL1A2):c.1197+5G>A	SNV Germline	Chr7:94410532	Pathogenic	Osteogenesis imperfecta type I Condition: not provided Osteogenesis imperfecta with normal sclerae, dominant form Ehlers-Danlos syndrome, classic type, 1 Osteogenesis imperfecta type I Osteogenesis imperfecta, perinatal lethal	Criteria Provided Multiple Submitters No Conflicts	CA162921230	rs_68132885	6 SubmittersRCV000490711 RCV000598859 RCV002227169 RCV003766737 RCV004777683
NM_000089.4(COL1A2):c.1406G>C (p.Gly469Ala)	SNV Germline	Chr7:94412585	Pathogenic/Likely pathogenic	Osteogenesis imperfecta with normal sclerae, dominant form Ehlers-Danlos syndrome, classic type, 1 Osteogenesis imperfecta type I Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA162925041	rs_72658119	4 SubmittersRCV000490679 RCV005222965 RCV005630744
NM_000089.4(COL1A2):c.1801G>A (p.Gly601Ser)	SNV Germline	Chr7:94416441	Pathogenic	Osteogenesis imperfecta type I Condition: not provided Osteogenesis imperfecta type I Ehlers-Danlos syndrome, classic type, 1 Osteogenesis imperfecta Osteogenesis imperfecta, perinatal lethal Osteogenesis imperfecta with normal sclerae, dominant form	Criteria Provided Multiple Submitters No Conflicts	CA162929069	rs_72658143	9 SubmittersRCV000490730 RCV000594712 RCV002230966 RCV001849383 RCV003139688 RCV003152709
NM_000089.4(COL1A2):c.1937G>T (p.Gly646Val)	SNV Germline	Chr7:94417797	Pathogenic/Likely pathogenic	Osteogenesis imperfecta type III Osteogenesis imperfecta 7 conditions	Criteria Provided Multiple Submitters No Conflicts	CA162930336	rs_72658150	3 SubmittersRCV000490755 RCV002279260 RCV002481546
NM_000089.4(COL1A2):c.2835+1G>A	SNV Germline	Chr7:94425664	Pathogenic	Osteogenesis imperfecta with normal sclerae, dominant form Osteogenesis imperfecta type I Osteogenesis imperfecta type I Ehlers-Danlos syndrome, classic type, 1 See cases	Criteria Provided Multiple Submitters No Conflicts	CA162939788	rs_72659310	4 SubmittersRCV000490660 RCV000490726 RCV002231121 RCV003155210
NM_000089.4(COL1A2):c.2918G>T (p.Gly973Val)	SNV Germline	Chr7:94425832	Pathogenic	Osteogenesis imperfecta type III Osteogenesis imperfecta	Criteria Provided Single Submitter	CA162939988	rs_67609234	2 SubmittersRCV000490699 RCV005235355
NM_000089.4(COL1A2):c.3008G>A (p.Gly1003Asp)	SNV Unknown	Chr7:94426433	Pathogenic	Osteogenesis imperfecta type III	No Assertion Criteria Provided	CA368225079	rs_1114167414	1 SubmittersRCV000490732
NM_000089.4(COL1A2):c.3089G>C (p.Gly1030Ala)	SNV Unknown	Chr7:94426514	Pathogenic	Osteogenesis imperfecta type III	No Assertion Criteria Provided	CA368225247	rs_1114167415	1 SubmittersRCV000490704
NM_000089.4(COL1A2):c.3106G>C (p.Gly1036Arg)	SNV Germline	Chr7:94427008	Pathogenic	Osteogenesis imperfecta with normal sclerae, dominant form Short fetal femur length See cases Osteogenesis imperfecta type I Ehlers-Danlos syndrome, classic type, 1	Criteria Provided Single Submitter	CA162940630	rs_72659325	4 SubmittersRCV000490746 RCV002264701 RCV003155211 RCV006556072
NM_000089.4(COL1A2):c.3304G>T (p.Gly1102Cys)	SNV Unknown	Chr7:94427663	Pathogenic	Osteogenesis imperfecta type I	No Assertion Criteria Provided	CA368225687	rs_67768540	1 SubmittersRCV000490701
NM_000088.4(COL1A1):c.4292C>T (p.Thr1431Ile)	SNV Germline	Chr17:50185605	Pathogenic	Osteogenesis imperfecta with normal sclerae, dominant form Osteogenesis imperfecta type I	Criteria Provided Single Submitter	CA400190590	rs_1114167403	2 SubmittersRCV000490689 RCV003517203
NM_000088.4(COL1A1):c.3897C>G (p.Cys1299Trp)	SNV Germline	Chr17:50186425	Pathogenic	Osteogenesis imperfecta with normal sclerae, dominant form COL1A1-related disorder Osteogenesis imperfecta type I	Criteria Provided Multiple Submitters No Conflicts	CA291542851	rs_34940368	3 SubmittersRCV000490717 RCV004551603 RCV005090986
NM_000088.4(COL1A1):c.3815G>T (p.Gly1272Val)	SNV Germline	Chr17:50186507	Pathogenic/Likely pathogenic	Osteogenesis imperfecta with normal sclerae, dominant form Osteogenesis imperfecta type I Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA400194038	rs_1114167402	3 SubmittersRCV000490692 RCV000490761 RCV002272256
NM_000088.4(COL1A1):c.3790A>G (p.Met1264Val)	SNV Germline	Chr17:50186664	Pathogenic	Osteogenesis imperfecta type I	Criteria Provided Single Submitter	CA291542868	rs_72656340	2 SubmittersRCV000490719
NM_000088.4(COL1A1):c.3655G>A (p.Asp1219Asn)	SNV Unknown	Chr17:50186799	Pathogenic	Osteogenesis imperfecta with normal sclerae, dominant form	No Assertion Criteria Provided	CA291542879	rs_72656338	1 SubmittersRCV000490710
NM_000088.4(COL1A1):c.3607C>T (p.Gln1203Ter)	SNV Germline	Chr17:50186847	Pathogenic	Osteogenesis imperfecta type I	Criteria Provided Single Submitter	CA400197968	rs_1114167399	2 SubmittersRCV000490662
NM_000088.4(COL1A1):c.3505G>A (p.Gly1169Ser)	SNV Germline	Chr17:50187041	Pathogenic/Likely pathogenic	Osteogenesis imperfecta type I Osteogenesis imperfecta Condition: not provided Abnormality of the skeletal system Infantile cortical hyperostosis	Criteria Provided Multiple Submitters No Conflicts	CA291542908	rs_67815019	13 SubmittersRCV000490739 RCV000586484 RCV000755941 RCV001814161 RCV002281097
NM_000088.4(COL1A1):c.3226G>A (p.Gly1076Ser)	SNV Germline	Chr17:50188131	Pathogenic/Likely pathogenic	Osteogenesis imperfecta type III Condition: not provided Osteogenesis imperfecta type I Osteogenesis imperfecta with normal sclerae, dominant form COL1A1-related disorder 8 conditions	Criteria Provided Multiple Submitters No Conflicts	CA291543018	rs_67394386	11 SubmittersRCV000490696 RCV000596247 RCV001037391 RCV001330770 RCV004551602 RCV004796194
NM_000088.4(COL1A1):c.3045+1G>A	SNV Germline	Chr17:50188902	Pathogenic	Osteogenesis imperfecta type I Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA400203553	rs_1114167382	4 SubmittersRCV000490672 RCV002291645
NM_000088.4(COL1A1):c.2668-1G>A	SNV Germline	Chr17:50189539	Pathogenic	Osteogenesis imperfecta type I Condition: not provided	Criteria Provided Single Submitter	CA400206119	rs_1114167394	2 SubmittersRCV000490735 RCV004719835
NM_000088.4(COL1A1):c.2596G>A (p.Gly866Ser)	SNV Germline	Chr17:50189876	Pathogenic	Osteogenesis imperfecta type III Osteogenesis imperfecta type I Condition: not provided See cases	Criteria Provided Multiple Submitters No Conflicts	CA291543260	rs_67445413	9 SubmittersRCV000490749 RCV001213033 RCV001577310 RCV003128405
NM_000088.4(COL1A1):c.2461G>A (p.Gly821Ser)	SNV Germline	Chr17:50190099	Pathogenic	Osteogenesis imperfecta with normal sclerae, dominant form Osteogenesis imperfecta type I Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA291543310	rs_67693970	7 SubmittersRCV000490757 RCV000548232 RCV001572316
NM_000088.4(COL1A1):c.2343+1G>A	SNV Germline	Chr17:50190816	Pathogenic/Likely pathogenic	Osteogenesis imperfecta type I 8 conditions Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA400209743	rs_1114167378	6 SubmittersRCV000490722 RCV002475958 RCV005630742
NM_000088.4(COL1A1):c.2335G>A (p.Gly779Ser)	SNV Unknown	Chr17:50190825	Pathogenic	Osteogenesis imperfecta with normal sclerae, dominant form	No Assertion Criteria Provided	CA291543881	rs_72651661	1 SubmittersRCV000490668
NM_000088.4(COL1A1):c.2235+1G>A	SNV Unknown	Chr17:50191382	Pathogenic	Osteogenesis imperfecta type III	No Assertion Criteria Provided	CA400210712	rs_1114167390	1 SubmittersRCV000490759
NM_000088.4(COL1A1):c.2155G>A (p.Gly719Ser)	SNV Germline	Chr17:50191463	Pathogenic	Osteogenesis imperfecta type III Condition: not provided Osteogenesis imperfecta type I Osteogenesis imperfecta with normal sclerae, dominant form 8 conditions	Criteria Provided Multiple Submitters No Conflicts	CA291543986	rs_72651645	9 SubmittersRCV000490715 RCV001584200 RCV001245339 RCV005420206 RCV005018820
NM_000088.4(COL1A1):c.2075G>C (p.Gly692Ala)	SNV Unknown	Chr17:50191840	Pathogenic	Osteogenesis imperfecta type III	No Assertion Criteria Provided	CA400211829	rs_1114167388	1 SubmittersRCV000490745
NM_000088.4(COL1A1):c.1821+1G>A	SNV Germline	Chr17:50192993	Pathogenic	Osteogenesis imperfecta type I Condition: not provided 7 conditions Osteogenesis imperfecta Cardiovascular phenotype COL1A1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA291544536	rs_66555264	14 SubmittersRCV000490727 RCV000599354 RCV000763410 RCV002221545 RCV004992266 RCV004551601
NM_000088.4(COL1A1):c.1792C>T (p.Arg598Ter)	SNV Germline	Chr17:50193023	Pathogenic	Osteogenesis imperfecta type I Condition: not provided Osteogenesis imperfecta with normal sclerae, dominant form Osteogenesis imperfecta	Criteria Provided Multiple Submitters No Conflicts	CA8645100	rs_72651614	9 SubmittersRCV000490706 RCV001555740 RCV002283484 RCV002279255
NM_000088.4(COL1A1):c.1299+1G>A	SNV Germline	Chr17:50195231	Pathogenic	Osteogenesis imperfecta type I 7 conditions Condition: not provided COL1A1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA291546594	rs_66490707	9 SubmittersRCV000490723 RCV000763411 RCV001527971 RCV004737558
NM_000088.4(COL1A1):c.1243C>T (p.Arg415Ter)	SNV Germline	Chr17:50195288	Pathogenic	Osteogenesis imperfecta type I Condition: not provided Infantile cortical hyperostosis 8 conditions Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 Osteogenesis imperfecta, perinatal lethal 6 conditions COL1A1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA291546646	rs_72648326	15 SubmittersRCV000490754 RCV000516899 RCV001262344 RCV002475959 RCV003313958 RCV004760530 RCV004796193 RCV004722824
NM_000088.4(COL1A1):c.1201G>A (p.Gly401Ser)	SNV Germline	Chr17:50195330	Pathogenic	Osteogenesis imperfecta with normal sclerae, dominant form Osteogenesis imperfecta type I	Criteria Provided Single Submitter	CA400218987	rs_72648322	2 SubmittersRCV000490729 RCV002527010
NM_000088.4(COL1A1):c.1081C>T (p.Arg361Ter)	SNV Germline	Chr17:50195641	Pathogenic	Osteogenesis imperfecta type I Osteogenesis imperfecta, perinatal lethal Condition: not provided Osteogenesis imperfecta Osteogenesis imperfecta with normal sclerae, dominant form COL1A1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA291546898	rs_72645366	10 SubmittersRCV000490713 RCV001542693 RCV001584199 RCV002279254 RCV004596228 RCV004737557
NM_000088.4(COL1A1):c.1057G>A (p.Gly353Ser)	SNV Germline	Chr17:50195665	Pathogenic	Osteogenesis imperfecta with normal sclerae, dominant form Osteogenesis imperfecta type I	Criteria Provided Single Submitter	CA291546912	rs_66721653	2 SubmittersRCV000490671 RCV005090985
NM_000088.4(COL1A1):c.1002+2T>C	SNV Germline	Chr17:50196153	Pathogenic	Osteogenesis imperfecta type I	Criteria Provided Single Submitter	CA400221190	rs_786205507	2 SubmittersRCV000490762
NM_000088.4(COL1A1):c.977G>A (p.Gly326Asp)	SNV Germline	Chr17:50196180	Pathogenic	Osteogenesis imperfecta type I	Criteria Provided Single Submitter	CA291547133	rs_72645356	2 SubmittersRCV000490742
NM_000088.4(COL1A1):c.851G>C (p.Gly284Ala)	SNV Germline	Chr17:50196624	Pathogenic	Osteogenesis imperfecta type I	Criteria Provided Single Submitter	CA291547382	rs_72645337	2 SubmittersRCV000490675
NM_000088.4(COL1A1):c.841G>A (p.Gly281Ser)	SNV Germline	Chr17:50196634	Pathogenic	Osteogenesis imperfecta type I	Criteria Provided Single Submitter	CA291547390	rs_72645334	2 SubmittersRCV000490718
NM_000088.4(COL1A1):c.769G>A (p.Gly257Arg)	SNV Germline	Chr17:50197045	Pathogenic	Osteogenesis imperfecta type I Condition: not provided Osteogenesis imperfecta 8 conditions COL1A1-related disorder Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA291547584	rs_72645321	14 SubmittersRCV000490740 RCV000520145 RCV002279257 RCV002489188 RCV004551605 RCV004801922
NM_000088.4(COL1A1):c.752G>A (p.Gly251Asp)	SNV Unknown	Chr17:50197062	Pathogenic	Osteogenesis imperfecta type I	No Assertion Criteria Provided	CA400223989	rs_1114167410	1 SubmittersRCV000490695
NM_000088.4(COL1A1):c.658C>T (p.Arg220Ter)	SNV Germline	Chr17:50197770	Pathogenic	Osteogenesis imperfecta type I Ehlers-Danlos syndrome, arthrochalasia type, 2 Condition: not provided Osteogenesis imperfecta Stickler syndrome type 2	Criteria Provided Multiple Submitters No Conflicts	CA291547917	rs_72667036	9 SubmittersRCV000490652 RCV001003534 RCV001552353 RCV002279256 RCV004767298
NM_000088.4(COL1A1):c.589G>T (p.Gly197Cys)	SNV Germline	Chr17:50198002	Pathogenic	Osteogenesis imperfecta type I Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA291548135	rs_8179178	3 SubmittersRCV000490693 RCV001269743
NM_000088.4(COL1A1):c.563G>A (p.Gly188Asp)	SNV Germline	Chr17:50198186	Pathogenic/Likely pathogenic	Osteogenesis imperfecta type I Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA400225653	rs_1114167408	4 SubmittersRCV000490656 RCV001270300 RCV002350082
NM_000088.4(COL1A1):c.333+2T>C	SNV Germline	Chr17:50199554	Pathogenic	Osteogenesis imperfecta type I	No Assertion Criteria Provided	CA291550704	rs_72667012	1 SubmittersRCV000490703
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	8 SubmittersRCV000489750 RCV000538652 RCV001097772 RCV005407150
NM_000089.4(COL1A2):c.2891G>A (p.Gly964Asp)	SNV Germline	Chr7:94425805	Pathogenic/Likely pathogenic	Condition: not provided Osteogenesis imperfecta, perinatal lethal	Criteria Provided Multiple Submitters No Conflicts	CA368224831	rs_1085307707	2 SubmittersRCV000490098 RCV006454680
NM_002615.7(SERPINF1):c.295C>T (p.Arg99Ter)	SNV Germline	Chr17:1771040	Pathogenic	Condition: not provided Osteogenesis imperfecta Osteogenesis imperfecta type 6	Criteria Provided Multiple Submitters No Conflicts	CA397584444	rs_1085307634	5 SubmittersRCV000489314 RCV004782399 RCV005010404
NM_000088.4(COL1A1):c.3680G>A (p.Arg1227His)	SNV Germline	Chr17:50186774	Conflicting classifications of pathogenicity	Osteogenesis imperfecta type I Condition: not provided Cardiovascular phenotype not specified COL1A1-related disorder	Criteria Provided Conflicting Classifications	CA8644376	rs_543809032	6 SubmittersRCV000526752 RCV001712452 RCV002455947 RCV003488631 RCV004551617
NM_000478.6(ALPL):c.283G>A (p.Val95Met)	SNV Germline	Chr1:21561198	Conflicting classifications of pathogenicity	Decreased circulating alkaline phosphatase activity Condition: not provided Hypophosphatasia Adult hypophosphatasia Childhood hypophosphatasia Infantile hypophosphatasia Childhood hypophosphatasia Osteogenesis imperfecta Adult hypophosphatasia Infantile hypophosphatasia	Criteria Provided Conflicting Classifications	CA666442	rs_139811782	10 SubmittersRCV000490714 RCV001067182 RCV001273158 RCV001535923 RCV001580504 RCV002279265 RCV003470594 RCV004568606
NM_006371.5(CRTAP):c.451C>G (p.Leu151Val)	SNV Germline	Chr3:33114528	Conflicting classifications of pathogenicity	Condition: not provided Osteogenesis imperfecta type 7 Osteogenesis imperfecta Malignant tumor of urinary bladder	Criteria Provided Conflicting Classifications	CA2300277	rs_202118861	10 SubmittersRCV000494644 RCV000533870 RCV002279269 RCV005899785
NM_000089.4(COL1A2):c.875G>T (p.Gly292Val)	SNV Germline	Chr7:94409404	Pathogenic	Osteogenesis imperfecta type I Ehlers-Danlos syndrome, classic type, 1 Osteogenesis imperfecta type I	Criteria Provided Single Submitter	CA368220688	rs_1131692167	2 SubmittersRCV000495171 RCV003766785
NM_000088.4(COL1A1):c.2641G>A (p.Gly881Ser)	SNV Germline	Chr17:50189705	Pathogenic	Osteogenesis imperfecta type I Condition: not provided	Criteria Provided Single Submitter	CA8644716	rs_765659555	2 SubmittersRCV000495593 RCV004722835
NM_000088.4(COL1A1):c.4328C>T (p.Ala1443Val)	SNV Germline	Chr17:50185569	Pathogenic/Likely pathogenic	Osteogenesis imperfecta type I COL1A1-related disorder Osteogenesis imperfecta with normal sclerae, dominant form	Criteria Provided Multiple Submitters No Conflicts	CA400190313	rs_1131692326	5 SubmittersRCV000496049 RCV004737564 RCV005627101
NM_000088.4(COL1A1):c.3443G>A (p.Gly1148Asp)	SNV Unknown	Chr17:50187103	Pathogenic	Osteogenesis imperfecta type III	Criteria Provided Single Submitter	CA400198947	rs_1131692320	1 SubmittersRCV000496033
NM_000088.4(COL1A1):c.1247G>A (p.Gly416Asp)	SNV Germline	Chr17:50195284	Pathogenic	Osteogenesis imperfecta type I Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA400218794	rs_1135401953	2 SubmittersRCV000496233 RCV000520103
NM_000089.4(COL1A2):c.2425C>T (p.Pro809Ser)	SNV Germline	Chr7:94422978	Conflicting classifications of pathogenicity	Condition: not provided Connective tissue disorder Predisposition to dissection Osteogenesis imperfecta Ehlers-Danlos syndrome, arthrochalasia type, 2 Osteogenesis imperfecta type I Ehlers-Danlos syndrome, classic type, 1 Cardiovascular phenotype not specified	Criteria Provided Conflicting Classifications	CA4347447	rs_145355907	13 SubmittersRCV000497839 RCV000680488 RCV000791269 RCV001164727 RCV001164726 RCV002231166 RCV002446967 RCV003114623
NM_000088.4(COL1A1):c.3865G>C (p.Val1289Leu)	SNV Germline	Chr17:50186457	Conflicting classifications of pathogenicity	Condition: not provided Osteogenesis imperfecta type I	Criteria Provided Conflicting Classifications	CA8644327	rs_780472683	2 SubmittersRCV000497837 RCV002527161
NM_000088.4(COL1A1):c.3094G>A (p.Ala1032Thr)	SNV Germline	Chr17:50188747	Conflicting classifications of pathogenicity	Condition: not provided Osteogenesis imperfecta type I Ehlers-Danlos syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA8644580	rs_374095521	5 SubmittersRCV000497329 RCV000631498 RCV002279279 RCV004992283
NM_000088.4(COL1A1):c.1929+1G>A	SNV Germline	Chr17:50192639	Pathogenic	Osteogenesis imperfecta type I	No Assertion Criteria Provided	CA400213575	rs_1555573313	1 SubmittersRCV000505628
NM_000089.4(COL1A2):c.767G>T (p.Gly256Val)	SNV Germline	Chr7:94408798	Pathogenic	Condition: not provided Osteogenesis imperfecta, perinatal lethal Osteogenesis imperfecta type I Ehlers-Danlos syndrome, classic type, 1 Osteogenesis imperfecta with normal sclerae, dominant form Ehlers-Danlos syndrome, arthrochalasia type, 2	Criteria Provided Multiple Submitters No Conflicts	CA162918982	rs_67525025	6 SubmittersRCV000507846 RCV001542469 RCV002231188 RCV005627102 RCV005860093
NM_006371.5(CRTAP):c.1039C>T (p.Leu347Phe)	SNV Germline	Chr3:33132671	Conflicting classifications of pathogenicity	not specified Condition: not provided Osteogenesis imperfecta type 7 Osteogenesis imperfecta CRTAP-related disorder	Criteria Provided Conflicting Classifications	CA2300475	rs_115198029	9 SubmittersRCV000506973 RCV000766891 RCV000999850 RCV002279286 RCV003935325
NM_021939.4(FKBP10):c.829C>G (p.Pro277Ala)	SNV Germline	Chr17:41819311	Conflicting classifications of pathogenicity	not specified Condition: not provided Osteogenesis imperfecta FKBP10-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8566376	rs_138089753	7 SubmittersRCV000506032 RCV001865658 RCV002279288 RCV004748794 RCV005841586
NM_001235.5(SERPINH1):c.565A>G (p.Thr189Ala)	SNV Germline	Chr11:75566914	Conflicting classifications of pathogenicity	Condition: not provided Osteogenesis imperfecta type 10	Criteria Provided Conflicting Classifications	CA6190840	rs_138784081	4 SubmittersRCV000506069 RCV001113293
NM_000088.4(COL1A1):c.4005+5G>A	SNV Germline	Chr17:50186312	Conflicting classifications of pathogenicity	Condition: not provided Osteogenesis imperfecta type I not specified Ehlers-Danlos syndrome Cardiovascular phenotype 8 conditions Clear cell carcinoma of kidney	Criteria Provided Conflicting Classifications	CA8644297	rs_778417218	10 SubmittersRCV000513599 RCV000631475 RCV001001319 RCV002279299 RCV002376949 RCV002496974 RCV005900984
NM_000089.4(COL1A2):c.956G>A (p.Gly319Glu)	SNV Germline	Chr7:94409742	Pathogenic	Condition: not provided Ehlers-Danlos syndrome, classic type, 1 Osteogenesis imperfecta type I	Criteria Provided Multiple Submitters No Conflicts	CA368220866	rs_1554396083	2 SubmittersRCV000518754 RCV002231000
NM_000089.4(COL1A2):c.2296G>A (p.Gly766Ser)	SNV Germline	Chr7:94421009	Pathogenic	Condition: not provided Ehlers-Danlos syndrome, classic type, 1 Osteogenesis imperfecta type I	Criteria Provided Multiple Submitters No Conflicts	CA162936464	rs_72658182	2 SubmittersRCV000517302 RCV003766918
NM_000088.4(COL1A1):c.2362G>A (p.Gly788Ser)	SNV Germline	Chr17:50190578	Pathogenic	Condition: not provided Osteogenesis imperfecta type I 7 conditions COL1A1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA291543403	rs_67879854	7 SubmittersRCV000516519 RCV000707194 RCV000763408 RCV004553128
NM_000088.4(COL1A1):c.1121G>C (p.Gly374Ala)	SNV Germline	Chr17:50195601	Pathogenic	Condition: not provided Osteogenesis imperfecta type I	Criteria Provided Multiple Submitters No Conflicts	CA400219747	rs_1555574143	3 SubmittersRCV000518629 RCV003517215
NM_000088.4(COL1A1):c.1013G>T (p.Gly338Val)	SNV Germline	Chr17:50195966	Likely pathogenic	Condition: not provided Osteogenesis imperfecta, perinatal lethal	Criteria Provided Single Submitter	CA400221060	rs_1555574249	2 SubmittersRCV000517817 RCV002264705
NM_000088.4(COL1A1):c.299-15C>T	SNV Germline	Chr17:50199605	Conflicting classifications of pathogenicity	not specified Ehlers-Danlos syndrome, arthrochalasia type Osteogenesis imperfecta Infantile cortical hyperostosis Osteogenesis imperfecta type I Condition: not provided	Criteria Provided Conflicting Classifications	CA8645765	rs_199523510	6 SubmittersRCV000516192 RCV001125941 RCV001125942 RCV001125940 RCV002060235 RCV003419892
NM_000089.4(COL1A2):c.432+1G>A	SNV Germline	Chr7:94404893	Pathogenic/Likely pathogenic	Condition: not provided Inborn genetic diseases Osteogenesis imperfecta type I Ehlers-Danlos syndrome, classic type, 1	Criteria Provided Multiple Submitters No Conflicts	CA368219747	rs_1554395431	3 SubmittersRCV000521677 RCV000624372 RCV002231211
NM_000089.4(COL1A2):c.874G>C (p.Gly292Arg)	SNV Germline	Chr7:94409403	Pathogenic	Condition: not provided Osteogenesis imperfecta type I Ehlers-Danlos syndrome, classic type, 1	Criteria Provided Multiple Submitters No Conflicts	CA368220686	rs_906553840	2 SubmittersRCV000523423 RCV001858003
NM_000089.4(COL1A2):c.1109G>T (p.Gly370Val)	SNV Germline	Chr7:94410439	Pathogenic	Condition: not provided Osteogenesis imperfecta type I Ehlers-Danlos syndrome, classic type, 1	Criteria Provided Multiple Submitters No Conflicts	CA368221175	rs_72658104	2 SubmittersRCV000522795 RCV002525213
NM_000089.4(COL1A2):c.2387G>C (p.Gly796Ala)	SNV Germline	Chr7:94421936	Pathogenic	Condition: not provided Osteogenesis imperfecta type I Ehlers-Danlos syndrome, classic type, 1	Criteria Provided Multiple Submitters No Conflicts	CA162937261	rs_72658189	2 SubmittersRCV000519428 RCV002231208
NM_000088.4(COL1A1):c.4245C>A (p.Cys1415Ter)	SNV Germline	Chr17:50185781	Pathogenic/Likely pathogenic	Condition: not provided Osteogenesis imperfecta, perinatal lethal	Criteria Provided Multiple Submitters No Conflicts	CA400191169	rs_1555571589	2 SubmittersRCV000519918 RCV006454686
NM_000088.4(COL1A1):c.4196G>A (p.Arg1399His)	SNV Germline	Chr17:50185830	Conflicting classifications of pathogenicity	Condition: not provided 7 conditions Osteogenesis imperfecta type I Cardiovascular phenotype 8 conditions	Criteria Provided Conflicting Classifications	CA8644235	rs_146035171	5 SubmittersRCV000521165 RCV000765368 RCV000792484 RCV002329239 RCV005027609
NM_000088.4(COL1A1):c.1462G>A (p.Gly488Ser)	SNV Germline	Chr17:50194626	Pathogenic/Likely pathogenic	Condition: not provided Osteogenesis imperfecta type I Osteogenesis imperfecta with normal sclerae, dominant form	Criteria Provided Multiple Submitters No Conflicts	CA400217541	rs_1328384458	3 SubmittersRCV000521607 RCV000547846 RCV005627103
NM_000088.4(COL1A1):c.1414C>T (p.Arg472Ter)	SNV Germline	Chr17:50194768	Pathogenic	Condition: not provided Osteogenesis imperfecta type I Osteogenesis imperfecta, perinatal lethal COL1A1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA291545471	rs_72648343	8 SubmittersRCV000523564 RCV000803118 RCV004767322 RCV005869580
NM_000088.4(COL1A1):c.751-1G>A	SNV Germline	Chr17:50197064	Pathogenic	Condition: not provided Osteogenesis imperfecta type I	Criteria Provided Multiple Submitters No Conflicts	CA400224003	rs_1555574516	2 SubmittersRCV000519996 RCV000631493
NM_000088.4(COL1A1):c.671G>T (p.Gly224Val)	SNV Germline	Chr17:50197757	Pathogenic	Condition: not provided Osteogenesis imperfecta type I	Criteria Provided Multiple Submitters No Conflicts	CA400224671	rs_1555574641	2 SubmittersRCV000522435 RCV000532521
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	6 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 Condition: not provided	Criteria Provided Conflicting Classifications	CA802094	rs_149113630	4 SubmittersRCV000532202 RCV000605499 RCV001096110 RCV006447371
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 Ovarian serous cystadenocarcinoma	Criteria Provided Conflicting Classifications	CA801637	rs_3738497	4 SubmittersRCV000547688 RCV001099454 RCV001539895 RCV005896847
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	not specified Osteogenesis imperfecta type 8 Osteogenesis Imperfecta, Recessive Condition: not provided Osteogenesis imperfecta	Criteria Provided Conflicting Classifications	CA802142	rs_77208721	7 SubmittersRCV000610522 RCV000999909 RCV001096112 RCV001573726 RCV002279355
NM_006371.5(CRTAP):c.444C>G (p.Tyr148Ter)	SNV Germline	Chr3:33114521	Pathogenic/Likely pathogenic	Osteogenesis imperfecta type 7	Criteria Provided Multiple Submitters No Conflicts	CA72699803	rs_972668240	2 SubmittersRCV000534680
NM_006371.5(CRTAP):c.456G>C (p.Gln152His)	SNV Germline	Chr3:33114533	Conflicting classifications of pathogenicity	Osteogenesis imperfecta type 7 Inborn genetic diseases CRTAP-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA2300279	rs_779447329	5 SubmittersRCV000548675 RCV002525305 RCV004754464 RCV006250801
NM_006371.5(CRTAP):c.654C>T (p.Asn218=)	SNV Germline	Chr3:33124440	Conflicting classifications of pathogenicity	Osteogenesis imperfecta type 7 not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA2300353	rs_144486582	4 SubmittersRCV000526157 RCV000607982 RCV005641678
NM_006371.5(CRTAP):c.655G>A (p.Gly219Ser)	SNV Germline	Chr3:33124441	Conflicting classifications of pathogenicity	Osteogenesis imperfecta type 7	Criteria Provided Conflicting Classifications	CA2300355	rs_145048208	2 SubmittersRCV000540867
NM_000089.4(COL1A2):c.1514G>C (p.Gly505Ala)	SNV Germline	Chr7:94413093	Likely pathogenic	Osteogenesis imperfecta type I Ehlers-Danlos syndrome, classic type, 1	Criteria Provided Single Submitter	CA368222011	rs_1554396680	1 SubmittersRCV002231229
NM_000089.4(COL1A2):c.1748G>C (p.Gly583Ala)	SNV Germline	Chr7:94415254	Pathogenic/Likely pathogenic	Osteogenesis imperfecta type I Ehlers-Danlos syndrome, classic type, 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA368222519	rs_1554396983	2 SubmittersRCV002231231 RCV005632458
NM_000089.4(COL1A2):c.2756G>A (p.Gly919Asp)	SNV Germline	Chr7:94425199	Pathogenic	Ehlers-Danlos syndrome, classic type, 1 Osteogenesis imperfecta type I	Criteria Provided Single Submitter	CA368224545	rs_1554398261	1 SubmittersRCV002231239
NM_000089.4(COL1A2):c.3209A>C (p.His1070Pro)	SNV Germline	Chr7:94427237	Conflicting classifications of pathogenicity	Ehlers-Danlos syndrome, classic type, 1 Osteogenesis imperfecta type I Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA4347701	rs_767399660	4 SubmittersRCV002231240 RCV001560740 RCV005801821
NM_000089.4(COL1A2):c.3673C>T (p.His1225Tyr)	SNV Germline	Chr7:94428439	Conflicting classifications of pathogenicity	Ehlers-Danlos syndrome, classic type, 1 Osteogenesis imperfecta type I not specified Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA4347811	rs_535142482	3 SubmittersRCV002231019 RCV004586766 RCV005532684
NM_000089.4(COL1A2):c.389G>A (p.Gly130Asp)	SNV Germline	Chr7:94404849	Pathogenic	Condition: not provided Ehlers-Danlos syndrome, classic type, 1 Osteogenesis imperfecta type I	Criteria Provided Multiple Submitters No Conflicts	CA162914426	rs_72656360	4 SubmittersRCV000991603 RCV002231244
NM_000089.4(COL1A2):c.1477G>C (p.Gly493Arg)	SNV Germline	Chr7:94412656	Likely pathogenic	Ehlers-Danlos syndrome, classic type, 1 Osteogenesis imperfecta type I	Criteria Provided Single Submitter	CA368221924	rs_1554396612	1 SubmittersRCV002231009
NM_000089.4(COL1A2):c.1513G>A (p.Gly505Ser)	SNV Germline	Chr7:94413092	Pathogenic	Osteogenesis imperfecta type I Ehlers-Danlos syndrome, classic type, 1 Osteogenesis imperfecta type I	Criteria Provided Multiple Submitters No Conflicts	CA368222009	rs_1554396679	2 SubmittersRCV002231010 RCV005627104
NM_000089.4(COL1A2):c.2565+1G>A	SNV Germline	Chr7:94423119	Pathogenic	Ehlers-Danlos syndrome, classic type, 1 Osteogenesis imperfecta type I Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA162938093	rs_72658198	2 SubmittersRCV002231014 RCV005630746
NM_000089.4(COL1A2):c.2719G>A (p.Gly907Ser)	SNV Germline	Chr7:94425162	Pathogenic	Osteogenesis imperfecta type I Ehlers-Danlos syndrome, classic type, 1	Criteria Provided Single Submitter	CA368224473	rs_1554398251	1 SubmittersRCV002231237
NM_000089.4(COL1A2):c.3260G>T (p.Gly1087Val)	SNV Germline	Chr7:94427288	Likely pathogenic	Osteogenesis imperfecta type I Ehlers-Danlos syndrome, classic type, 1	Criteria Provided Single Submitter	CA368225599	rs_72659335	1 SubmittersRCV002231241
NM_000089.4(COL1A2):c.279G>A (p.Met93Ile)	SNV Germline	Chr7:94401620	Pathogenic	Ehlers-Danlos syndrome, arthrochalasia type, 2 Osteogenesis imperfecta type I Ehlers-Danlos syndrome, classic type, 1	Criteria Provided Single Submitter	CA162908568	rs_72656356	2 SubmittersRCV000018774 RCV002231016
NM_000089.4(COL1A2):c.334G>A (p.Gly112Ser)	SNV Germline	Chr7:94404702	Likely pathogenic	Osteogenesis imperfecta type I Ehlers-Danlos syndrome, classic type, 1	Criteria Provided Single Submitter	CA368219538	rs_1554395411	1 SubmittersRCV002231242
NM_000089.4(COL1A2):c.946G>A (p.Gly316Ser)	SNV Germline	Chr7:94409732	Pathogenic/Likely pathogenic	Osteogenesis imperfecta, perinatal lethal Ehlers-Danlos syndrome, classic type, 1 Osteogenesis imperfecta type I Osteogenesis imperfecta Osteogenesis imperfecta type I Osteogenesis imperfecta with normal sclerae, dominant form	Criteria Provided Multiple Submitters No Conflicts	CA368220848	rs_72656392	5 SubmittersRCV001375860 RCV002231026 RCV001813787 RCV004596238 RCV005627105
NM_000089.4(COL1A2):c.982G>A (p.Gly328Ser)	SNV Germline	Chr7:94409768	Pathogenic	6 conditions Osteogenesis imperfecta with normal sclerae, dominant form Ehlers-Danlos syndrome, cardiac valvular type Condition: not provided Ehlers-Danlos syndrome, classic type, 1 Osteogenesis imperfecta type I Osteogenesis imperfecta COL1A2-related disorder Osteogenesis imperfecta with normal sclerae, dominant form Osteogenesis imperfecta, perinatal lethal Osteogenesis imperfecta type III	Criteria Provided Multiple Submitters No Conflicts	CA162920322	rs_66612022	10 SubmittersRCV000763174 RCV001196500 RCV001836645 RCV001783030 RCV002231248 RCV003448980 RCV005869592 RCV006257301
NM_000089.4(COL1A2):c.1072G>A (p.Gly358Ser)	SNV Germline	Chr7:94410278	Pathogenic	Condition: not provided Osteogenesis imperfecta, perinatal lethal Osteogenesis imperfecta type III Ehlers-Danlos syndrome, classic type, 1 Osteogenesis imperfecta type I 7 conditions	Criteria Provided Multiple Submitters No Conflicts	CA162920823	rs_66619856	9 SubmittersRCV001091391 RCV001542470 RCV001809476 RCV002231005 RCV002490955
NM_000089.4(COL1A2):c.1246G>A (p.Val416Ile)	SNV Germline	Chr7:94410937	Conflicting classifications of pathogenicity	Condition: not provided Ehlers-Danlos syndrome, classic type, 1 Osteogenesis imperfecta type I Osteogenesis imperfecta type III	Criteria Provided Conflicting Classifications	CA4346961	rs_550867796	4 SubmittersRCV000757107 RCV002231006 RCV003338649
NM_000089.4(COL1A2):c.2133+6T>A	SNV Germline	Chr7:94420292	Pathogenic	Osteogenesis imperfecta, perinatal lethal Ehlers-Danlos syndrome, classic type, 1 Osteogenesis imperfecta type I Osteogenesis imperfecta with normal sclerae, dominant form	Criteria Provided Multiple Submitters No Conflicts	CA162935440	rs_72658164	3 SubmittersRCV001255997 RCV002231011 RCV005863193
NM_000089.4(COL1A2):c.2163C>T (p.Gly721=)	SNV Germline	Chr7:94420420	Conflicting classifications of pathogenicity	Connective tissue disorder Condition: not provided Osteogenesis imperfecta Ehlers-Danlos syndrome, arthrochalasia type, 2 Ehlers-Danlos syndrome, classic type, 1 Osteogenesis imperfecta type I Ehlers-Danlos syndrome Cardiovascular phenotype not specified	Criteria Provided Conflicting Classifications	CA4347337	rs_150670521	10 SubmittersRCV000680487 RCV000827609 RCV001162672 RCV001162673 RCV002231012 RCV002279336 RCV002420358 RCV005239146
NM_000089.4(COL1A2):c.433-2A>G	SNV Germline	Chr7:94405197	Pathogenic/Likely pathogenic	Ehlers-Danlos syndrome, classic type Osteogenesis imperfecta type I Osteogenesis imperfecta	Criteria Provided Multiple Submitters No Conflicts	CA368219755	rs_1554395471	2 SubmittersRCV000548758 RCV005625671
NM_000089.4(COL1A2):c.784G>C (p.Gly262Arg)	SNV Germline	Chr7:94408815	Likely pathogenic	Osteogenesis imperfecta with normal sclerae, dominant form Osteogenesis imperfecta type I Ehlers-Danlos syndrome, classic type, 1	Criteria Provided Multiple Submitters No Conflicts	CA368220513	rs_1554395970	2 SubmittersRCV002244998 RCV002231024
NM_000089.4(COL1A2):c.920G>A (p.Gly307Asp)	SNV Germline	Chr7:94409592	Pathogenic	Osteogenesis imperfecta type I Ehlers-Danlos syndrome, classic type, 1	Criteria Provided Single Submitter	CA162920026	rs_72656390	1 SubmittersRCV002231025
NM_000089.4(COL1A2):c.1503+1G>C	SNV Germline	Chr7:94412683	Pathogenic	Condition: not provided Osteogenesis imperfecta type I Ehlers-Danlos syndrome, classic type, 1	Criteria Provided Multiple Submitters No Conflicts	CA368221978	rs_1554396615	2 SubmittersRCV001575496 RCV002231228
NM_000089.4(COL1A2):c.1964G>A (p.Gly655Glu)	SNV Germline	Chr7:94417824	Pathogenic	Osteogenesis imperfecta type I Ehlers-Danlos syndrome, classic type, 1	Criteria Provided Single Submitter	CA368222956	rs_1554397275	1 SubmittersRCV002231232
NM_000088.4(COL1A1):c.3936G>A (p.Trp1312Ter)	SNV Germline	Chr17:50186386	Pathogenic	Osteogenesis imperfecta type I Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA400193384	rs_72656343	2 SubmittersRCV000552645 RCV001545430
NM_000088.4(COL1A1):c.3893C>A (p.Thr1298Asn)	SNV Germline	Chr17:50186429	Pathogenic/Likely pathogenic	Osteogenesis imperfecta type I 8 conditions	Criteria Provided Multiple Submitters No Conflicts	CA400193618	rs_1555571755	2 SubmittersRCV000533081 RCV005018906
NM_000088.4(COL1A1):c.3647A>G (p.Tyr1216Cys)	SNV Germline	Chr17:50186807	Pathogenic/Likely pathogenic	Osteogenesis imperfecta type I Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA400197506	rs_1555571849	3 SubmittersRCV000550757 RCV001547583
NM_000088.4(COL1A1):c.3369+5G>C	SNV Germline	Chr17:50187871	Likely pathogenic	Osteogenesis imperfecta type I COL1A1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA658656699	rs_1555572075	2 SubmittersRCV000547028 RCV004553178
NM_000088.4(COL1A1):c.3207+1G>C	SNV Germline	Chr17:50188529	Pathogenic/Likely pathogenic	Osteogenesis imperfecta type I COL1A1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA400200495	rs_1555572239	2 SubmittersRCV000528176 RCV004553177
NM_000088.4(COL1A1):c.2128-1G>C	SNV Germline	Chr17:50191491	Pathogenic	Osteogenesis imperfecta type I not specified	Criteria Provided Multiple Submitters No Conflicts	CA291543992	rs_67543897	2 SubmittersRCV000533873 RCV001000789
NM_000088.4(COL1A1):c.1516-1G>A	SNV Germline	Chr17:50194448	Pathogenic	Osteogenesis imperfecta type I Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA400217030	rs_72648352	3 SubmittersRCV000560259 RCV006250798
NM_000088.4(COL1A1):c.796G>C (p.Gly266Arg)	SNV Germline	Chr17:50197018	Pathogenic	Osteogenesis imperfecta type I	Criteria Provided Single Submitter	CA400223710	rs_1555574493	1 SubmittersRCV000558433
NM_000088.4(COL1A1):c.35T>G (p.Leu12Arg)	SNV Germline	Chr17:50201479	Conflicting classifications of pathogenicity	Osteogenesis imperfecta type I not specified	Criteria Provided Conflicting Classifications	CA400230428	rs_1555575857	2 SubmittersRCV000525857 RCV003230531
NM_000088.4(COL1A1):c.4090C>T (p.Gln1364Ter)	SNV Germline	Chr17:50185936	Pathogenic	Osteogenesis imperfecta type I Infantile cortical hyperostosis Ehlers-Danlos syndrome, arthrochalasia type, 2 Ehlers-Danlos syndrome, arthrochalasia type Osteogenesis imperfecta	Criteria Provided Single Submitter	CA400192334	rs_1555571647	2 SubmittersRCV000558998 RCV005863192
NM_000088.4(COL1A1):c.3825G>A (p.Trp1275Ter)	SNV Germline	Chr17:50186497	Pathogenic	Osteogenesis imperfecta type I Osteogenesis imperfecta	Criteria Provided Multiple Submitters No Conflicts	CA400193987	rs_1555571766	2 SubmittersRCV000538278 RCV002279334
NM_000088.4(COL1A1):c.2602G>A (p.Ala868Thr)	SNV Germline	Chr17:50189870	Conflicting classifications of pathogenicity	Osteogenesis imperfecta type I Cardiovascular phenotype 8 conditions Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA8644745	rs_779846520	5 SubmittersRCV000525106 RCV002438296 RCV002497061 RCV003319367 RCV005239145
NM_000088.4(COL1A1):c.2028+2T>G	SNV Germline	Chr17:50191978	Pathogenic	Osteogenesis imperfecta type I	Criteria Provided Single Submitter	CA291544088	rs_72651635	1 SubmittersRCV000552461
NM_000088.4(COL1A1):c.903+1G>A	SNV Germline	Chr17:50196483	Pathogenic	Osteogenesis imperfecta type I Osteogenesis imperfecta with normal sclerae, dominant form	Criteria Provided Multiple Submitters No Conflicts	CA400222006	rs_1298621011	3 SubmittersRCV000527395 RCV003326451
NM_000088.4(COL1A1):c.3423A>C (p.Arg1141=)	SNV Germline	Chr17:50187484	Conflicting classifications of pathogenicity	Osteogenesis imperfecta type I Ehlers-Danlos syndrome, arthrochalasia type Infantile cortical hyperostosis Osteogenesis imperfecta Ehlers-Danlos syndrome Cardiovascular phenotype not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA8644454	rs_148737409	6 SubmittersRCV000530956 RCV001125395 RCV001125394 RCV001124398 RCV002279333 RCV002456053 RCV005418194 RCV006438190
NM_000088.4(COL1A1):c.3407G>C (p.Gly1136Ala)	SNV Germline	Chr17:50187500	Likely pathogenic	Osteogenesis imperfecta type I	Criteria Provided Single Submitter	CA400199220	rs_1555572013	1 SubmittersRCV000559468
NM_000088.4(COL1A1):c.1012G>A (p.Gly338Ser)	SNV Germline	Chr17:50195967	Pathogenic/Likely pathogenic	Osteogenesis imperfecta type I Condition: not provided 8 conditions Osteogenesis imperfecta type III	Criteria Provided Multiple Submitters No Conflicts	CA8645430	rs_66664580	6 SubmittersRCV000534961 RCV001560527 RCV004796230 RCV006270391
NM_000088.4(COL1A1):c.608G>T (p.Gly203Val)	SNV Germline	Chr17:50197983	Pathogenic	Osteogenesis imperfecta type I Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA291548107	rs_72667031	5 SubmittersRCV000526144 RCV001580124
NM_000088.4(COL1A1):c.103+5G>A	SNV Germline	Chr17:50201406	Conflicting classifications of pathogenicity	Osteogenesis imperfecta type I Condition: not provided	Criteria Provided Conflicting Classifications	CA658658624	rs_1555575835	2 SubmittersRCV000549872 RCV004787844
NM_000088.4(COL1A1):c.3688G>A (p.Glu1230Lys)	SNV Germline	Chr17:50186766	Conflicting classifications of pathogenicity	Osteogenesis imperfecta type I Condition: not provided	Criteria Provided Conflicting Classifications	CA291542875	rs_376564562	2 SubmittersRCV000539210 RCV003114655
NM_000088.4(COL1A1):c.3045+3G>A	SNV Germline	Chr17:50188900	Conflicting classifications of pathogenicity	Osteogenesis imperfecta type I Condition: not provided Cardiovascular phenotype not specified	Criteria Provided Conflicting Classifications	CA8644613	rs_41316695	4 SubmittersRCV000537927 RCV001696985 RCV002448622 RCV003230530
NM_000088.4(COL1A1):c.2644C>T (p.Arg882Ter)	SNV Germline	Chr17:50189702	Pathogenic	Osteogenesis imperfecta type I Condition: not provided Osteogenesis imperfecta Ehlers-Danlos syndrome, arthrochalasia type Osteogenesis imperfecta Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA291543234	rs_72653147	7 SubmittersRCV000542101 RCV000578858 RCV001535522 RCV002279330 RCV005318419
NM_000088.4(COL1A1):c.2032G>A (p.Glu678Lys)	SNV Germline	Chr17:50191883	Pathogenic	Osteogenesis imperfecta type I Ehlers-Danlos syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA400212062	rs_1213427451	3 SubmittersRCV000533017 RCV002279327 RCV002289720
NM_000088.4(COL1A1):c.1393G>T (p.Glu465Ter)	SNV Germline	Chr17:50194789	Pathogenic	Osteogenesis imperfecta type I	Criteria Provided Single Submitter	CA291546319	rs_865999256	1 SubmittersRCV000529907
NM_000088.4(COL1A1):c.1269C>T (p.Pro423=)	SNV Germline	Chr17:50195262	Conflicting classifications of pathogenicity	Condition: not provided Osteogenesis imperfecta type I Ehlers-Danlos syndrome, arthrochalasia type Osteogenesis imperfecta Infantile cortical hyperostosis Ehlers-Danlos syndrome Cardiovascular phenotype not specified	Criteria Provided Conflicting Classifications	CA8645328	rs_149301001	10 SubmittersRCV000553010 RCV001084966 RCV001125754 RCV001125753 RCV001125755 RCV002279326 RCV002448621 RCV006268840
NM_000088.4(COL1A1):c.1103G>C (p.Gly368Ala)	SNV Germline	Chr17:50195619	Pathogenic/Likely pathogenic	Osteogenesis imperfecta type I Osteogenesis imperfecta Osteogenesis imperfecta with normal sclerae, dominant form	Criteria Provided Multiple Submitters No Conflicts	CA400219930	rs_1555574151	3 SubmittersRCV000538665 RCV001260276 RCV005420210
NM_000088.4(COL1A1):c.862G>T (p.Glu288Ter)	SNV Germline	Chr17:50196525	Pathogenic	Osteogenesis imperfecta type I Osteogenesis imperfecta	Criteria Provided Multiple Submitters No Conflicts	CA400222280	rs_72645341	3 SubmittersRCV000534334 RCV004525960
NM_000088.4(COL1A1):c.770G>A (p.Gly257Glu)	SNV Germline	Chr17:50197044	Pathogenic	Osteogenesis imperfecta type I	Criteria Provided Single Submitter	CA400223882	rs_1555574496	1 SubmittersRCV000545904
NM_000088.4(COL1A1):c.3207+1G>A	SNV Germline	Chr17:50188529	Pathogenic	Condition: not provided Osteogenesis imperfecta type I Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA400200497	rs_1555572239	4 SubmittersRCV000578505 RCV000631486 RCV003313966
NM_000088.4(COL1A1):c.262G>T (p.Glu88Ter)	SNV Germline	Chr17:50199789	Pathogenic	Condition: not provided Osteogenesis imperfecta type I	Criteria Provided Multiple Submitters No Conflicts	CA400228115	rs_1555575370	2 SubmittersRCV000578718 RCV000802325
NM_000088.4(COL1A1):c.104-1G>T	SNV Germline	Chr17:50199948	Pathogenic/Likely pathogenic	Condition: not provided Osteogenesis imperfecta type I	Criteria Provided Multiple Submitters No Conflicts	CA400228728	rs_1555575456	2 SubmittersRCV000579263 RCV005420211
NM_000088.4(COL1A1):c.3099+2T>A	SNV Germline	Chr17:50188740	Likely pathogenic	Osteogenesis imperfecta type I Condition: not provided	Criteria Provided Single Submitter	CA400202950	rs_1555572315	2 SubmittersRCV004767422 RCV005251154
NM_000088.4(COL1A1):c.1003-1G>A	SNV Germline	Chr17:50195977	Pathogenic/Likely pathogenic	Condition: not provided Osteogenesis imperfecta type I	Criteria Provided Multiple Submitters No Conflicts	CA400221105	rs_72645361	2 SubmittersRCV000585423 RCV001860110
NM_000478.6(ALPL):c.815G>A (p.Arg272His)	SNV Germline	Chr1:21570327	Pathogenic/Likely pathogenic	Hypophosphatasia Infantile hypophosphatasia Condition: not provided Osteogenesis imperfecta Adult hypophosphatasia Adult hypophosphatasia Childhood hypophosphatasia Infantile hypophosphatasia	Criteria Provided Multiple Submitters No Conflicts	CA666626	rs_781272386	9 SubmittersRCV000587658 RCV000674432 RCV001597180 RCV002279370 RCV003459459 RCV005010562
NM_000089.4(COL1A2):c.1999G>T (p.Gly667Cys)	SNV Germline	Chr7:94418526	Likely pathogenic	Osteogenesis imperfecta	Criteria Provided Single Submitter	CA368223039	rs_1554397369	1 SubmittersRCV000587868
NM_000089.4(COL1A2):c.596G>A (p.Gly199Asp)	SNV Germline	Chr7:94407848	Pathogenic/Likely pathogenic	Inborn genetic diseases Osteogenesis imperfecta, perinatal lethal Abnormality of the skeletal system Ehlers-Danlos syndrome, classic type, 1 Osteogenesis imperfecta type I 7 conditions	Criteria Provided Multiple Submitters No Conflicts	CA368220124	rs_1554395833	5 SubmittersRCV000623858 RCV001542468 RCV001836846 RCV005223022 RCV004796244
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_000088.4(COL1A1):c.3100-6C>T	SNV Germline	Chr17:50188643	Conflicting classifications of pathogenicity	Condition: not provided Osteogenesis imperfecta type I not specified	Criteria Provided Conflicting Classifications	CA8644562	rs_377123276	6 SubmittersRCV000598119 RCV001084380 RCV005407776
NM_000088.4(COL1A1):c.3207+8G>T	SNV Germline	Chr17:50188522	Conflicting classifications of pathogenicity	Condition: not provided Osteogenesis imperfecta type I COL1A1-related disorder not specified	Criteria Provided Conflicting Classifications	CA291543054	rs_866785621	4 SubmittersRCV000598221 RCV002531008 RCV004737859 RCV005407778
NM_000088.4(COL1A1):c.3906C>T (p.Pro1302=)	SNV Germline	Chr17:50186416	Conflicting classifications of pathogenicity	Condition: not provided Osteogenesis imperfecta type I Cardiovascular phenotype not specified	Criteria Provided Conflicting Classifications	CA291542850	rs_188887858	4 SubmittersRCV000595947 RCV002532391 RCV005318441 RCV005240293
NM_006129.5(BMP1):c.2134G>A (p.Gly712Ser)	SNV Germline	Chr8:22201829	Conflicting classifications of pathogenicity	Condition: not provided Osteogenesis imperfecta type 13 not specified	Criteria Provided Conflicting Classifications	CA4665133	rs_117159093	7 SubmittersRCV000597608 RCV001162110 RCV005240294
NM_000088.4(COL1A1):c.1621A>G (p.Thr541Ala)	SNV Germline	Chr17:50194177	Conflicting classifications of pathogenicity	Condition: not provided Osteogenesis imperfecta type I	Criteria Provided Conflicting Classifications	CA8645171	rs_766204229	3 SubmittersRCV000597522 RCV001860172
NM_000088.4(COL1A1):c.299-9G>T	SNV Germline	Chr17:50199599	Conflicting classifications of pathogenicity	Condition: not provided Osteogenesis imperfecta type I Ehlers-Danlos syndrome not specified	Criteria Provided Conflicting Classifications	CA8645764	rs_373041336	5 SubmittersRCV000593836 RCV001444817 RCV002279374 RCV005240295
NM_000088.4(COL1A1):c.3061G>T (p.Glu1021Ter)	SNV Germline	Chr17:50188780	Pathogenic	Condition: not provided Osteogenesis imperfecta type I	Criteria Provided Multiple Submitters No Conflicts	CA400203279	rs_139593707	2 SubmittersRCV000598016 RCV001215501
NM_000089.4(COL1A2):c.1008C>T (p.Ala336=)	SNV Germline	Chr7:94409794	Conflicting classifications of pathogenicity	Condition: not provided Osteogenesis imperfecta type I Ehlers-Danlos syndrome, classic type, 1 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA4346903	rs_138357977	6 SubmittersRCV000597506 RCV002232231 RCV002456301
NM_001025295.3(IFITM5):c.120G>A (p.Ser40=)	SNV Germline	Chr11:299371	Conflicting classifications of pathogenicity	Condition: not provided Osteogenesis imperfecta	Criteria Provided Conflicting Classifications	CA5773483	rs_79625057	4 SubmittersRCV000597738 RCV002279377
NM_000088.4(COL1A1):c.516C>T (p.Thr172=)	SNV Germline	Chr17:50198460	Conflicting classifications of pathogenicity	Condition: not provided Osteogenesis imperfecta type I Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA8645684	rs_377195143	5 SubmittersRCV000597852 RCV001439435 RCV003302912
NM_000088.4(COL1A1):c.2838T>G (p.Pro946=)	SNV Germline	Chr17:50189267	Conflicting classifications of pathogenicity	Condition: not provided Osteogenesis imperfecta type I Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA500992037	rs_1555572418	5 SubmittersRCV000710767 RCV001081361 RCV003160025
NM_000088.4(COL1A1):c.3258C>T (p.Pro1086=)	SNV Germline	Chr17:50188099	Conflicting classifications of pathogenicity	Condition: not provided Osteogenesis imperfecta type I Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA8644507	rs_200319927	3 SubmittersRCV000597893 RCV001473676 RCV003380626
NM_000088.4(COL1A1):c.3065G>C (p.Gly1022Ala)	SNV Germline	Chr17:50188776	Pathogenic	Condition: not provided Osteogenesis imperfecta type I 8 conditions	Criteria Provided Multiple Submitters No Conflicts	CA291543082	rs_67771061	3 SubmittersRCV000597715 RCV001062270 RCV004796245
NM_000088.4(COL1A1):c.2715C>T (p.Gly905=)	SNV Germline	Chr17:50189491	Conflicting classifications of pathogenicity	Condition: not provided Osteogenesis imperfecta type I Cardiovascular phenotype COL1A1-related disorder	Criteria Provided Conflicting Classifications	CA8644696	rs_779337831	4 SubmittersRCV000598433 RCV001854047 RCV002438537 RCV004553320
NM_000089.4(COL1A2):c.2260G>T (p.Gly754Cys)	SNV Germline	Chr7:94420613	Pathogenic/Likely pathogenic	Condition: not provided Ehlers-Danlos syndrome, classic type, 1 Osteogenesis imperfecta type I	Criteria Provided Multiple Submitters No Conflicts	CA162936060	rs_72658177	3 SubmittersRCV000596743 RCV002232561
NM_000088.4(COL1A1):c.3369+9G>T	SNV Germline	Chr17:50187867	Conflicting classifications of pathogenicity	Condition: not provided Osteogenesis imperfecta type I	Criteria Provided Conflicting Classifications	CA291542994	rs_1009435359	2 SubmittersRCV000591564 RCV003517235

SNV
Germline

Chr1:42757782

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA212756

rs_72659351

13 SubmittersRCV000001315 RCV000255762 RCV002276526 RCV003914795 RCV005864433

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_006371.5(CRTAP):c.472-1021C>G

SNV
Germline

Chr3:33119323

Likely pathogenic

Osteogenesis imperfecta type 7
CRTAP-related disorder

Criteria Provided
Single Submitter

CA72702931

rs_72659360

2 SubmittersRCV000005235 RCV003407276

NM_006371.5(CRTAP):c.471+1G>C

SNV
Germline

Chr3:33114549

Pathogenic

Osteogenesis imperfecta type 7

No Assertion Criteria Provided

CA72699845

rs_72659359

1 SubmittersRCV000005237

NM_006371.5(CRTAP):c.826C>T (p.Gln276Ter)

SNV
Germline

Chr3:33129971

Pathogenic

Osteogenesis imperfecta type 7
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA117150

rs_72659361

7 SubmittersRCV000005238 RCV001269605

NM_006371.5(CRTAP):c.3G>A (p.Met1Ile)

SNV
Germline

Chr3:33114080

Pathogenic/Likely pathogenic

Osteogenesis imperfecta type 7
Osteogenesis imperfecta

Criteria Provided
Multiple Submitters
No Conflicts

CA117153

rs_72659357

3 SubmittersRCV000005239 RCV002468961

NM_002335.4(LRP5):c.1708C>T (p.Arg570Trp)

SNV
Germline

Chr11:68403606

Conflicting classifications of pathogenicity

Osteoporosis with pseudoglioma
Condition: not provided
Osteogenesis imperfecta

Criteria Provided
Conflicting Classifications

CA118090

rs_121908665

3 SubmittersRCV000006653 RCV001851703 RCV002276534

NM_002335.4(LRP5):c.1999G>A (p.Val667Met)

SNV
Germline

Chr11:68406721

Conflicting classifications of pathogenicity

Osteoporosis with pseudoglioma
Condition: not provided
not specified
8 conditions
Osteogenesis imperfecta
Retinal dystrophy
6 conditions
Disorder of bone

Criteria Provided
Conflicting Classifications

CA213422

rs_4988321

18 SubmittersRCV000006654 RCV000086953 RCV000250939 RCV002496286 RCV002276535 RCV004814844 RCV005394129 RCV006268072

NM_000478.6(ALPL):c.881A>C (p.Asp294Ala)

SNV
Germline

Chr1:21573683

Pathogenic

Infantile hypophosphatasia
Childhood hypophosphatasia
Adult hypophosphatasia
Condition: not provided
Hypophosphatasia
Adult hypophosphatasia
Infantile hypophosphatasia
Childhood hypophosphatasia
Osteogenesis imperfecta
ALPL-related disorder
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA256921

rs_121918002

18 SubmittersRCV000014650 RCV000014651 RCV000014652 RCV000224505 RCV000589324 RCV002496362 RCV002276545 RCV004549362 RCV006302137

NM_000478.6(ALPL):c.571G>A (p.Glu191Lys)

SNV
Germline

Chr1:21564139

Pathogenic/Likely pathogenic

Infantile hypophosphatasia
Childhood hypophosphatasia
Adult hypophosphatasia
Hypophosphatasia
Condition: not provided
Childhood hypophosphatasia
Infantile hypophosphatasia
Adult hypophosphatasia
Odontohypophosphatasia
Inborn genetic diseases
Osteogenesis imperfecta
See cases
ALPL-related disorder
Hypophosphatasia
Childhood hypophosphatasia
Infantile hypophosphatasia
Adult hypophosphatasia

Criteria Provided
Multiple Submitters
No Conflicts

CA256927

rs_121918007

41 SubmittersRCV000014658 RCV000014659 RCV000014660 RCV000207183 RCV000224962 RCV000763300 RCV001250150 RCV002513051 RCV002276546 RCV004584327 RCV004739305 RCV005867756

NM_000478.6(ALPL):c.1001G>A (p.Gly334Asp)

SNV
Germline

Chr1:21575736

Pathogenic/Likely pathogenic

Infantile hypophosphatasia
Hypophosphatasia
Condition: not provided
Childhood hypophosphatasia
Infantile hypophosphatasia
Adult hypophosphatasia
Adult hypophosphatasia
Osteogenesis imperfecta
ALPL-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA256929

rs_121918009

17 SubmittersRCV000014663 RCV000207270 RCV000224376 RCV000763301 RCV000786923 RCV002276547 RCV004549365

NM_000478.6(ALPL):c.407G>A (p.Arg136His)

SNV
Germline

Chr1:21563219

Pathogenic/Likely pathogenic

Childhood hypophosphatasia
Infantile hypophosphatasia
Hypophosphatasia
Condition: not provided
Adult hypophosphatasia
Infantile hypophosphatasia
Childhood hypophosphatasia
Adult hypophosphatasia
Osteogenesis imperfecta
Odontohypophosphatasia
ALPL-related autosomal recessive hypophosphatasia

Criteria Provided
Multiple Submitters
No Conflicts

CA256932

rs_121918011

25 SubmittersRCV000014666 RCV000169168 RCV000364426 RCV000767525 RCV000770988 RCV002490366 RCV002276548 RCV004798728 RCV006249557

NM_000478.6(ALPL):c.526G>A (p.Ala176Thr)

SNV
Germline

Chr1:21564094

Pathogenic/Likely pathogenic

Infantile hypophosphatasia
Childhood hypophosphatasia
Childhood hypophosphatasia
Infantile hypophosphatasia
Adult hypophosphatasia
Condition: not provided
Hypophosphatasia
Osteogenesis imperfecta
Adult hypophosphatasia
ALPL-related disorder
Hypophosphataemia or rickets

Criteria Provided
Multiple Submitters
No Conflicts

CA256935

rs_121918019

22 SubmittersRCV000014677 RCV000014678 RCV000763299 RCV000808101 RCV001275108 RCV002276549 RCV002288490 RCV004549369 RCV006277646

NM_000942.5(PPIB):c.451C>T (p.Gln151Ter)

SNV
Germline

Chr15:64156802

Pathogenic

Osteogenesis imperfecta type 9
Condition: not provided

Criteria Provided
Single Submitter

CA210846

rs_121434559

3 SubmittersRCV000018434 RCV000024534

NM_000089.4(COL1A2):c.279+2T>C

SNV
Germline

Chr7:94401622

Pathogenic

Ehlers-Danlos syndrome, arthrochalasia type, 2
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Single Submitter

CA212996

rs_72656357

2 SubmittersRCV000018773 RCV002228037

NM_000089.4(COL1A2):c.3034G>C (p.Gly1012Arg)

SNV
Germline

Chr7:94426459

Pathogenic

Condition: not provided
Osteogenesis imperfecta with normal sclerae, dominant form

Criteria Provided
Single Submitter

CA257745

rs_72659319

2 SubmittersRCV000321212 RCV000018775

NM_000089.4(COL1A2):c.2720G>A (p.Gly907Asp)

SNV
Germline

Chr7:94425163

Pathogenic

Condition: not provided
Osteogenesis imperfecta, perinatal lethal

Criteria Provided
Single Submitter

CA257750

rs_121912900

2 SubmittersRCV002281710 RCV000018779

NM_000089.4(COL1A2):c.1640G>A (p.Gly547Asp)

SNV
Germline

Chr7:94413922

Pathogenic

Osteogenesis imperfecta, perinatal lethal

No Assertion Criteria Provided

CA257753

rs_121912901

1 SubmittersRCV000018781

NM_000089.4(COL1A2):c.2593G>A (p.Gly865Ser)

SNV
Germline

Chr7:94424363

Pathogenic

Osteogenesis imperfecta, perinatal lethal

No Assertion Criteria Provided

CA257756

rs_121912902

1 SubmittersRCV000018782

NM_000089.4(COL1A2):c.1936G>T (p.Gly646Cys)

SNV
Germline

Chr7:94417796

Pathogenic

Osteogenesis imperfecta with normal sclerae, dominant form

No Assertion Criteria Provided

CA257759

rs_121912903

1 SubmittersRCV000018783

NM_000089.4(COL1A2):c.2414G>A (p.Gly805Asp)

SNV
Germline

Chr7:94422967

Pathogenic

Osteogenesis imperfecta, perinatal lethal

No Assertion Criteria Provided

CA257762

rs_121912904

1 SubmittersRCV000018786

NM_000089.4(COL1A2):c.775G>T (p.Gly259Cys)

SNV
Germline

Chr7:94408806

Pathogenic

Osteogenesis imperfecta type III
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA257765

rs_121912905

2 SubmittersRCV000018787 RCV005222692

NM_000089.4(COL1A2):c.1612-2A>G

SNV
Germline

Chr7:94413892

Pathogenic

Osteogenesis imperfecta, perinatal lethal

No Assertion Criteria Provided

CA162926807

rs_1799871

1 SubmittersRCV000018788

NM_000089.4(COL1A2):c.1414G>T (p.Gly472Cys)

SNV
Unknown

Chr7:94412593

Pathogenic

Osteogenesis imperfecta, perinatal lethal

No Assertion Criteria Provided

CA257768

rs_121912906

1 SubmittersRCV000018789

NM_000089.4(COL1A2):c.2123G>A (p.Arg708Gln)

SNV
Germline

Chr7:94420276

Conflicting classifications of pathogenicity

Marfan syndrome, atypical
Connective tissue disorder
Ehlers-Danlos syndrome, arthrochalasia type, 2
Osteogenesis imperfecta
Condition: not provided
Postmenopausal osteoporosis
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
Cardiovascular phenotype
Familial cancer of breast
not specified
Sarcoma
Cervical cancer
Malignant tumor of urinary bladder

Criteria Provided
Conflicting Classifications

CA210743

rs_72658163

13 SubmittersRCV000018790 RCV000680486 RCV001162671 RCV001162670 RCV001200183 RCV001330774 RCV002228038 RCV002415422 RCV005887558 RCV005237392 RCV005887561 RCV005887560 RCV005887559

NM_000089.4(COL1A2):c.2025+5G>A

SNV
Germline

Chr7:94418557

Pathogenic

Osteogenesis imperfecta, perinatal lethal

No Assertion Criteria Provided

CA162931272

rs_72658157

1 SubmittersRCV000018792

NM_000089.4(COL1A2):c.1757G>T (p.Gly586Val)

SNV
Germline

Chr7:94415263

Pathogenic

Osteogenesis imperfecta with normal sclerae, dominant form
Osteogenesis imperfecta type III

No Assertion Criteria Provided

CA257771

rs_121912907

1 SubmittersRCV000018793 RCV000018794

NM_000089.4(COL1A2):c.2080G>C (p.Gly694Arg)

SNV
Germline

Chr7:94420233

Pathogenic

Osteogenesis imperfecta, perinatal lethal

No Assertion Criteria Provided

CA257774

rs_121912908

1 SubmittersRCV000018795

NM_000089.4(COL1A2):c.1739G>A (p.Gly580Asp)

SNV
Germline

Chr7:94415245

Pathogenic

Osteogenesis imperfecta, perinatal lethal

No Assertion Criteria Provided

CA257777

rs_121912909

1 SubmittersRCV000018798

NM_000089.4(COL1A2):c.2575G>A (p.Gly859Ser)

SNV
Germline

Chr7:94424345

Pathogenic

Osteogenesis imperfecta type III
Osteogenesis imperfecta
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA257780

rs_72658200

3 SubmittersRCV000018802 RCV003226163 RCV005222693

NM_000089.4(COL1A2):c.1504G>A (p.Gly502Ser)

SNV
Germline

Chr7:94413083

Likely pathogenic

Osteogenesis imperfecta, perinatal lethal
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA257783

rs_121912910

2 SubmittersRCV000018803 RCV002513109

NM_000089.4(COL1A2):c.3017G>C (p.Gly1006Ala)

SNV
Germline

Chr7:94426442

Pathogenic

Osteogenesis imperfecta type III

No Assertion Criteria Provided

CA257789

rs_121912911

1 SubmittersRCV000018806

NM_000089.4(COL1A2):c.2251G>A (p.Gly751Ser)

SNV
Germline

Chr7:94420604

Pathogenic

Osteogenesis imperfecta type III
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA257792

rs_72658176

2 SubmittersRCV000018808 RCV002228039

NM_000089.4(COL1A2):c.432+5G>A

SNV
Germline

Chr7:94404897

Pathogenic

Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA162914496

rs_72656364

2 SubmittersRCV000018810 RCV003764609

NM_000089.4(COL1A2):c.226-2A>G

SNV
Germline

Chr7:94401565

Pathogenic/Likely pathogenic

Ehlers-Danlos syndrome, arthrochalasia type, 2
Condition: not provided
Ehlers-Danlos syndrome
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I
COL1A2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA212997

rs_72656355

6 SubmittersRCV000018811 RCV000433468 RCV002276561 RCV002228040 RCV004742229

NM_000089.4(COL1A2):c.1099G>T (p.Gly367Trp)

SNV
Germline

Chr7:94410429

Pathogenic

Osteogenesis imperfecta type III

No Assertion Criteria Provided

CA257794

rs_72656402

1 SubmittersRCV000018813

NM_000089.4(COL1A2):c.3105+2T>C

SNV
Germline

Chr7:94426532

Pathogenic

Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2

No Assertion Criteria Provided

CA213000

rs_72659324

1 SubmittersRCV000018818

NM_000089.4(COL1A2):c.1136G>C (p.Gly379Ala)

SNV
Germline

Chr7:94410466

Likely pathogenic

Osteogenesis imperfecta with normal sclerae, dominant form
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA257797

rs_121912912

2 SubmittersRCV000018819 RCV002228041

NM_000089.4(COL1A2):c.1262G>A (p.Gly421Asp)

SNV
Germline

Chr7:94411066

Pathogenic

Osteogenesis imperfecta, perinatal lethal

No Assertion Criteria Provided

CA257800

rs_267606741

1 SubmittersRCV000018822

NM_000089.4(COL1A2):c.3269G>A (p.Gly1090Asp)

SNV
Germline

Chr7:94427628

Pathogenic

Osteogenesis imperfecta type III

No Assertion Criteria Provided

CA257803

rs_267606742

1 SubmittersRCV000018823

NM_000089.4(COL1A2):c.3295G>A (p.Gly1099Arg)

SNV
Germline

Chr7:94427654

Pathogenic

Osteogenesis imperfecta type III

No Assertion Criteria Provided

CA257806

rs_72659338

1 SubmittersRCV000018824

NM_000088.4(COL1A1):c.824G>A (p.Gly275Asp)

SNV
Germline

Chr17:50196651

Pathogenic

Osteogenesis imperfecta, perinatal lethal

No Assertion Criteria Provided

CA257809

rs_72645333

1 SubmittersRCV000018825

NM_000088.4(COL1A1):c.814G>T (p.Gly272Cys)

SNV
Germline

Chr17:50196661

Pathogenic

Osteogenesis imperfecta type I
Infantile cortical hyperostosis

Criteria Provided
Multiple Submitters
No Conflicts

CA281082

rs_72645331

3 SubmittersRCV000018826 RCV002247357

NM_000088.4(COL1A1):c.1057G>T (p.Gly353Cys)

SNV
Germline

Chr17:50195665

Pathogenic

Osteogenesis imperfecta with normal sclerae, dominant form
Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA257812

rs_66721653

2 SubmittersRCV000018827 RCV002513110

NM_000088.4(COL1A1):c.1705G>C (p.Gly569Arg)

SNV
Germline

Chr17:50194005

Pathogenic

Osteogenesis imperfecta, perinatal lethal

No Assertion Criteria Provided

CA257815

rs_72648363

1 SubmittersRCV000018828

NM_000088.4(COL1A1):c.2110G>T (p.Gly704Cys)

SNV
Germline

Chr17:50191805

Pathogenic

Osteogenesis imperfecta type III
Osteogenesis imperfecta with normal sclerae, dominant form

Criteria Provided
Single Submitter

CA257818

rs_67368147

3 SubmittersRCV000018829 RCV000490665

NM_000088.4(COL1A1):c.2210G>A (p.Gly737Asp)

SNV
Germline

Chr17:50191408

Pathogenic

Osteogenesis imperfecta, perinatal lethal

No Assertion Criteria Provided

CA257821

rs_72651651

1 SubmittersRCV000018830

NM_000088.4(COL1A1):c.2552G>A (p.Gly851Asp)

SNV
Germline

Chr17:50190008

Pathogenic

Osteogenesis imperfecta, perinatal lethal

No Assertion Criteria Provided

CA257824

rs_72653137

1 SubmittersRCV000018831

NM_000088.4(COL1A1):c.2533G>A (p.Gly845Arg)

SNV
Germline

Chr17:50190027

Pathogenic

Osteogenesis imperfecta, perinatal lethal
Condition: not provided
Osteogenesis imperfecta type I

Criteria Provided
Multiple Submitters
No Conflicts

CA257827

rs_72653136

6 SubmittersRCV000018832 RCV000991594 RCV001236925

NM_000088.4(COL1A1):c.2605G>T (p.Gly869Cys)

SNV
Germline

Chr17:50189867

Pathogenic

Osteogenesis imperfecta, perinatal lethal
Condition: not provided

Criteria Provided
Single Submitter

CA257830

rs_72653143

2 SubmittersRCV000018833 RCV002464069

NM_000088.4(COL1A1):c.2686G>T (p.Gly896Cys)

SNV
Germline

Chr17:50189520

Pathogenic

Osteogenesis imperfecta, perinatal lethal

No Assertion Criteria Provided

CA257833

rs_72653152

1 SubmittersRCV000018834

NM_000088.4(COL1A1):c.2776G>T (p.Gly926Cys)

SNV
Germline

Chr17:50189430

Pathogenic

Osteogenesis imperfecta, perinatal lethal

No Assertion Criteria Provided

CA257836

rs_72653154

1 SubmittersRCV000018835

NM_000088.4(COL1A1):c.3028G>A (p.Gly1010Ser)

SNV
Germline

Chr17:50188920

Likely pathogenic

Osteogenesis imperfecta with normal sclerae, dominant form

Criteria Provided
Single Submitter

CA257839

rs_72653169

2 SubmittersRCV000018836

NM_000088.4(COL1A1):c.3064G>A (p.Gly1022Ser)

SNV
Germline

Chr17:50188777

Pathogenic

Osteogenesis imperfecta type III
COL1A1-related disorder

Criteria Provided
Single Submitter

CA257842

rs_66523073

2 SubmittersRCV000018837 RCV004549376

NM_000088.4(COL1A1):c.3073G>A (p.Gly1025Arg)

SNV
Germline

Chr17:50188768

Pathogenic

Osteogenesis imperfecta, perinatal lethal

No Assertion Criteria Provided

CA257845

rs_72653172

1 SubmittersRCV000018838

NM_000088.4(COL1A1):c.3182G>A (p.Gly1061Asp)

SNV
Unknown

Chr17:50188555

Pathogenic

Osteogenesis imperfecta, perinatal lethal

No Assertion Criteria Provided

CA257848

rs_72654797

1 SubmittersRCV000018839

NM_000088.4(COL1A1):c.3244G>T (p.Gly1082Cys)

SNV
Germline

Chr17:50188113

Pathogenic

Osteogenesis imperfecta, perinatal lethal

No Assertion Criteria Provided

CA257851

rs_72656303

1 SubmittersRCV000018840

NM_000088.4(COL1A1):c.3271G>A (p.Gly1091Ser)

SNV
Germline

Chr17:50187974

Pathogenic

Osteogenesis imperfecta, perinatal lethal

No Assertion Criteria Provided

CA257854

rs_72656306

1 SubmittersRCV000018841

NM_000088.4(COL1A1):c.3496G>T (p.Gly1166Cys)

SNV
Germline

Chr17:50187050

Pathogenic

Osteogenesis imperfecta, perinatal lethal

No Assertion Criteria Provided

CA257857

rs_72656324

1 SubmittersRCV000018842

NM_000088.4(COL1A1):c.3559G>A (p.Gly1187Ser)

SNV
Germline

Chr17:50186895

Pathogenic

Osteogenesis imperfecta, perinatal lethal

No Assertion Criteria Provided

CA257860

rs_72656332

1 SubmittersRCV000018843

NM_000088.4(COL1A1):c.1066G>T (p.Gly356Cys)

SNV
Germline

Chr17:50195656

Pathogenic

Osteogenesis imperfecta type I

No Assertion Criteria Provided

CA281086

rs_72645365

1 SubmittersRCV000018850

NM_000088.4(COL1A1):c.2156G>A (p.Gly719Asp)

SNV
Germline

Chr17:50191462

Pathogenic

Osteogenesis imperfecta, perinatal lethal

No Assertion Criteria Provided

CA257863

rs_72651646

1 SubmittersRCV000018851

NM_000088.4(COL1A1):c.543G>A (p.Met181Ile)

SNV
Germline

Chr17:50198433

Pathogenic/Likely pathogenic

Ehlers-Danlos syndrome, arthrochalasia type
Osteogenesis imperfecta type I
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA10575534

rs_72667022

6 SubmittersRCV000018852 RCV001851923 RCV005801734

NM_000088.4(COL1A1):c.994G>A (p.Gly332Arg)

SNV
Germline

Chr17:50196163

Pathogenic

Osteogenesis imperfecta type III
Osteogenesis imperfecta
Condition: not provided
Osteogenesis imperfecta with normal sclerae, dominant form
Osteogenesis imperfecta type I
7 conditions
COL1A1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA257866

rs_72645357

9 SubmittersRCV000018853 RCV000029586 RCV000480634 RCV000490676 RCV000692051 RCV000763413 RCV004549377

NM_000088.4(COL1A1):c.3541G>A (p.Gly1181Ser)

SNV
Germline

Chr17:50186913

Pathogenic/Likely pathogenic

Osteogenesis imperfecta, perinatal lethal
Condition: not provided
Osteogenesis imperfecta type I
8 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA257869

rs_72656330

4 SubmittersRCV000018854 RCV001811189 RCV004558269 RCV004795927

NM_000088.4(COL1A1):c.2444G>T (p.Gly815Val)

SNV
Germline

Chr17:50190334

Pathogenic

Osteogenesis imperfecta, perinatal lethal

No Assertion Criteria Provided

CA257872

rs_66929517

1 SubmittersRCV000018855

NM_000088.4(COL1A1):c.1777G>T (p.Gly593Cys)

SNV
Germline

Chr17:50193038

Likely pathogenic

Osteogenesis imperfecta, type III/IV
8 conditions

Criteria Provided
Single Submitter

CA127133

rs_66527965

2 SubmittersRCV000018856 RCV004795928

NM_000088.4(COL1A1):c.787G>A (p.Gly263Arg)

SNV
Germline

Chr17:50197027

Pathogenic

Osteogenesis imperfecta
Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA257875

rs_72645323

2 SubmittersRCV000018857 RCV006461177

NM_000088.4(COL1A1):c.3551G>T (p.Gly1184Val)

SNV
Germline

Chr17:50186903

Pathogenic

OSTEOGENESIS IMPERFECTA, TYPE IIC

No Assertion Criteria Provided

CA127136

rs_72656331

1 SubmittersRCV000018858

NM_000088.4(COL1A1):c.3452G>T (p.Gly1151Val)

SNV
Germline

Chr17:50187094

Pathogenic

Condition: not provided
Osteogenesis imperfecta, perinatal lethal

Criteria Provided
Single Submitter

CA257878

rs_72656321

2 SubmittersRCV000657897 RCV000018859

NM_000088.4(COL1A1):c.1301G>T (p.Gly434Val)

SNV
Germline

Chr17:50195099

Pathogenic

Osteogenesis imperfecta, perinatal lethal

No Assertion Criteria Provided

CA257881

rs_72648333

1 SubmittersRCV000018860

NM_000088.4(COL1A1):c.661G>T (p.Gly221Cys)

SNV
Germline

Chr17:50197767

Pathogenic

Osteogenesis imperfecta type 1, mild
Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA127139

rs_72667037

2 SubmittersRCV000018861 RCV001385346

NM_000088.4(COL1A1):c.957+5G>A

SNV
Germline

Chr17:50196309

Pathogenic

Osteogenesis imperfecta, perinatal lethal

No Assertion Criteria Provided

CA291547201

rs_72645350

1 SubmittersRCV000018862

NM_000088.4(COL1A1):c.3235G>A (p.Gly1079Ser)

SNV
Germline

Chr17:50188122

Pathogenic

Osteogenesis imperfecta type I
Condition: not provided
COL1A1-related disorder
Osteogenesis imperfecta with normal sclerae, dominant form
Osteogenesis imperfecta, perinatal lethal
Osteogenesis imperfecta type III
Osteogenesis imperfecta type I

Criteria Provided
Multiple Submitters
No Conflicts

CA281089

rs_72654802

10 SubmittersRCV000018863 RCV001596935 RCV004549378 RCV004795929

NM_000088.4(COL1A1):c.2939G>T (p.Gly980Val)

SNV
Germline

Chr17:50189009

Pathogenic

Osteogenesis imperfecta, perinatal lethal
Condition: not provided

Criteria Provided
Single Submitter

CA257884

rs_72653166

2 SubmittersRCV000018864 RCV003228896

NM_000088.4(COL1A1):c.1588G>A (p.Gly530Ser)

SNV
Germline

Chr17:50194375

Pathogenic

Osteogenesis imperfecta type III
Osteogenesis imperfecta type I
Condition: not provided
Osteogenesis imperfecta with normal sclerae, dominant form

Criteria Provided
Multiple Submitters
No Conflicts

CA257887

rs_67682641

6 SubmittersRCV000018865 RCV000548768 RCV003327362 RCV005627098

NM_000088.4(COL1A1):c.1777G>A (p.Gly593Ser)

SNV
Germline

Chr17:50193038

Pathogenic/Likely pathogenic

Osteogenesis imperfecta, perinatal lethal
27 conditions
Condition: not provided
Abnormality of the skeletal system

Criteria Provided
Multiple Submitters
No Conflicts

CA257890

rs_66527965

7 SubmittersRCV000018867 RCV000626590 RCV001596936 RCV001813997

NM_000088.4(COL1A1):c.2228G>T (p.Gly743Val)

SNV
Germline

Chr17:50191390

Pathogenic

Osteogenesis imperfecta, perinatal lethal

No Assertion Criteria Provided

CA257893

rs_72651653

1 SubmittersRCV000018868

NM_000088.4(COL1A1):c.1598G>A (p.Gly533Asp)

SNV
Unknown

Chr17:50194365

Pathogenic

Osteogenesis imperfecta, perinatal lethal

No Assertion Criteria Provided

CA257896

rs_72648356

1 SubmittersRCV000018870

NM_000088.4(COL1A1):c.3118G>A (p.Gly1040Ser)

SNV
Germline

Chr17:50188619

Pathogenic

Osteogenesis imperfecta type III
Condition: not provided
Osteogenesis imperfecta type I
Osteogenesis imperfecta, perinatal lethal

Criteria Provided
Multiple Submitters
No Conflicts

CA257899

rs_72653178

11 SubmittersRCV000018871 RCV000518360 RCV001245193 RCV005438368

NM_000088.4(COL1A1):c.2515G>A (p.Gly839Ser)

SNV
Germline

Chr17:50190045

Pathogenic

Osteogenesis imperfecta with normal sclerae, dominant form
Osteogenesis imperfecta type III

No Assertion Criteria Provided

CA257902

rs_72653131

2 SubmittersRCV000490682 RCV000018872

NM_000088.4(COL1A1):c.4391T>C (p.Leu1464Pro)

SNV
Germline

Chr17:50185506

Pathogenic

Osteogenesis imperfecta type III
Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA257905

rs_72656353

2 SubmittersRCV000018873 RCV003517128

NM_000088.4(COL1A1):c.572G>C (p.Gly191Ala)

SNV
Germline

Chr17:50198177

Likely pathogenic

Osteogenesis imperfecta type 1, mild
Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA127143

rs_67828806

2 SubmittersRCV000018875 RCV001242940

NM_000088.4(COL1A1):c.3936G>T (p.Trp1312Cys)

SNV
Germline

Chr17:50186386

Pathogenic

Osteogenesis imperfecta type 2, thin-bone

No Assertion Criteria Provided

CA127146

rs_72656343

1 SubmittersRCV000018876

NM_000088.4(COL1A1):c.3421C>T (p.Arg1141Ter)

SNV
Germline

Chr17:50187486

Pathogenic

Osteogenesis imperfecta type I
Osteogenesis imperfecta
Condition: not provided
Osteogenesis imperfecta type III
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA281092

rs_72656314

12 SubmittersRCV000018878 RCV000582506 RCV000599479 RCV005252113 RCV005801735

NM_000088.4(COL1A1):c.2291G>T (p.Gly764Val)

SNV
Germline

Chr17:50190869

Pathogenic

Osteogenesis imperfecta, perinatal lethal

No Assertion Criteria Provided

CA257908

rs_72651657

1 SubmittersRCV000018879

NM_000088.4(COL1A1):c.642+1G>A

SNV
Germline

Chr17:50197948

Pathogenic

Osteogenesis imperfecta with normal sclerae, dominant form

No Assertion Criteria Provided

CA291548070

rs_67364703

1 SubmittersRCV000018882

NM_000088.4(COL1A1):c.934C>T (p.Arg312Cys)

SNV
Germline

Chr17:50196337

Pathogenic/Likely pathogenic

Ehlers-Danlos syndrome, classic type
Bruising susceptibility
Fragile skin
Joint hypermobility
Osteogenesis imperfecta type I
Osteogenesis imperfecta with normal sclerae, dominant form
Ehlers-Danlos syndrome
8 conditions
Condition: not provided
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA281095

rs_72645347

9 SubmittersRCV000018884 RCV000415259 RCV000631472 RCV001198512 RCV002276563 RCV002496407 RCV003225023 RCV005627208

NM_000088.4(COL1A1):c.1299+1G>C

SNV
Germline

Chr17:50195231

Pathogenic

Osteogenesis imperfecta type I
Osteogenesis imperfecta with normal sclerae, dominant form

No Assertion Criteria Provided

CA291546592

rs_66490707

1 SubmittersRCV000018887 RCV000018888

NM_000088.4(COL1A1):c.3040C>T (p.Arg1014Cys)

SNV
Germline

Chr17:50188908

Pathogenic

Infantile cortical hyperostosis
Condition: not provided
Osteogenesis imperfecta type I
7 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA341441

rs_72653170

8 SubmittersRCV000018889 RCV000420639 RCV000685879 RCV000763407

NM_000088.4(COL1A1):c.572G>A (p.Gly191Asp)

SNV
Germline

Chr17:50198177

Pathogenic

Osteogenesis imperfecta type I
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1

Criteria Provided
Single Submitter

CA127151

rs_67828806

2 SubmittersRCV004018642 RCV000018891

NM_000088.4(COL1A1):c.761G>A (p.Gly254Glu)

SNV
Germline

Chr17:50197053

Pathogenic

Osteogenesis imperfecta type III

No Assertion Criteria Provided

CA257911

rs_72645320

1 SubmittersRCV000018892

NM_001235.5(SERPINH1):c.233T>C (p.Leu78Pro)

SNV
Germline

Chr11:75566582

Pathogenic

Osteogenesis imperfecta type 10

No Assertion Criteria Provided

CA128973

rs_137853892

1 SubmittersRCV000023052

NM_021939.4(FKBP10):c.344G>A (p.Arg115Gln)

SNV
Germline

Chr17:41817156

Pathogenic/Likely pathogenic

Bruck syndrome 1
Osteogenesis imperfecta
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA129381

rs_387906960

6 SubmittersRCV000023609 RCV002281717 RCV001852024

NM_000942.5(PPIB):c.313G>A (p.Gly105Arg)

SNV
Germline

Chr15:64160134

Pathogenic/Likely pathogenic

Condition: not provided
Osteogenesis imperfecta type 9
Osteogenesis imperfecta

Criteria Provided
Multiple Submitters
No Conflicts

CA210932

rs_137853866

4 SubmittersRCV000024538 RCV000202406 RCV003114203

NM_002615.7(SERPINF1):c.696C>G (p.Tyr232Ter)

SNV
Germline

Chr17:1775110

Pathogenic

Osteogenesis imperfecta type 6
Condition: not provided

Criteria Provided
Single Submitter

CA128684

rs_193302872

3 SubmittersRCV000022716 RCV000024545

NM_002615.7(SERPINF1):c.1132C>T (p.Gln378Ter)

SNV
Germline

Chr17:1777321

Pathogenic

Osteogenesis imperfecta type 6
Condition: not provided

No Assertion Criteria Provided

CA128686

rs_193302873

2 SubmittersRCV000022718 RCV000024547

NM_000088.4(COL1A1):c.1021G>T (p.Gly341Cys)

SNV
Germline

Chr17:50195958

Likely pathogenic

Osteogenesis imperfecta

Criteria Provided
Single Submitter

CA260264

rs_193922137

1 SubmittersRCV000029551

NM_000088.4(COL1A1):c.1042G>A (p.Ala348Thr)

SNV
Germline

Chr17:50195937

Conflicting classifications of pathogenicity

not specified
Infantile cortical hyperostosis
Ehlers-Danlos syndrome, arthrochalasia type
Osteogenesis imperfecta
Condition: not provided
Osteogenesis imperfecta type I
Familial thoracic aortic aneurysm and aortic dissection
Ehlers-Danlos syndrome
Cardiovascular phenotype
COL1A1-related disorder

Criteria Provided
Conflicting Classifications

CA260267

rs_139955975

12 SubmittersRCV000029552 RCV000262664 RCV000320157 RCV000367913 RCV000521409 RCV000560142 RCV000599940 RCV002276573 RCV002399337 RCV004737164

NM_000088.4(COL1A1):c.1200+1G>A

SNV
Germline

Chr17:50195433

Pathogenic

Osteogenesis imperfecta
Osteogenesis imperfecta type I

Criteria Provided
Multiple Submitters
No Conflicts

CA260270

rs_72648320

2 SubmittersRCV000029553 RCV001043307

NM_000088.4(COL1A1):c.1235C>G (p.Pro412Arg)

SNV
Germline

Chr17:50195296

Likely pathogenic

Osteogenesis imperfecta

Criteria Provided
Single Submitter

CA260271

rs_193922138

1 SubmittersRCV000029554

NM_000088.4(COL1A1):c.1299+5G>A

SNV
Germline

Chr17:50195227

Pathogenic/Likely pathogenic

Osteogenesis imperfecta
Osteogenesis imperfecta type I
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA260274

rs_193922139

4 SubmittersRCV000029555 RCV000688895 RCV002381264

NM_000088.4(COL1A1):c.1544G>C (p.Gly515Ala)

SNV
Germline

Chr17:50194419

Likely pathogenic

Osteogenesis imperfecta

Criteria Provided
Single Submitter

CA260275

rs_193922140

1 SubmittersRCV000029556

NM_000088.4(COL1A1):c.1583G>A (p.Arg528His)

SNV
Germline

Chr17:50194380

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta type I
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA260278

rs_144751329

9 SubmittersRCV000755939 RCV000989947 RCV002399338 RCV003323365

NM_000088.4(COL1A1):c.1768-8C>T

SNV
Germline

Chr17:50193055

Conflicting classifications of pathogenicity

Osteogenesis imperfecta
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, arthrochalasia type
Infantile cortical hyperostosis
Condition: not provided
See cases
not specified

Criteria Provided
Conflicting Classifications

CA260282

rs_193922142

7 SubmittersRCV000029559 RCV000872415 RCV001125671 RCV001125670 RCV001703422 RCV002251930 RCV005237415

NM_000088.4(COL1A1):c.1882G>A (p.Ala628Thr)

SNV
Germline

Chr17:50192687

Conflicting classifications of pathogenicity

Osteogenesis imperfecta
Condition: not provided
Osteogenesis imperfecta type I
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA260284

rs_113950465

9 SubmittersRCV000029561 RCV000585102 RCV001087782 RCV002408480 RCV004562218

NM_000088.4(COL1A1):c.2062C>T (p.Gln688Ter)

SNV
Germline

Chr17:50191853

Pathogenic/Likely pathogenic

Osteogenesis imperfecta
Condition: not provided
Osteogenesis imperfecta type I
8 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA260287

rs_193922144

5 SubmittersRCV000029562 RCV001575593 RCV005055525 RCV005016298

NM_000088.4(COL1A1):c.2161C>T (p.Gln721Ter)

SNV
Germline

Chr17:50191457

Pathogenic/Likely pathogenic

Osteogenesis imperfecta
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA260290

rs_193922145

2 SubmittersRCV000029563 RCV000403934

NM_000088.4(COL1A1):c.2398-1G>C

SNV
Germline

Chr17:50190381

Pathogenic/Likely pathogenic

Osteogenesis imperfecta
Osteogenesis imperfecta type I

Criteria Provided
Multiple Submitters
No Conflicts

CA260294

rs_193922147

2 SubmittersRCV000029565 RCV002513241

NM_000088.4(COL1A1):c.2594G>A (p.Arg865His)

SNV
Germline

Chr17:50189878

Conflicting classifications of pathogenicity

Osteogenesis imperfecta
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, arthrochalasia type
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA260298

rs_193922150

4 SubmittersRCV000029569 RCV001247065 RCV003137543 RCV004018683

NM_000088.4(COL1A1):c.2595C>T (p.Arg865=)

SNV
Germline

Chr17:50189877

Conflicting classifications of pathogenicity

Osteogenesis imperfecta
not specified
Ehlers-Danlos syndrome, arthrochalasia type
Infantile cortical hyperostosis
Osteogenesis imperfecta type I
Condition: not provided
Ehlers-Danlos syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA202652

rs_117672175

10 SubmittersRCV000029570 RCV000177893 RCV000300080 RCV000368843 RCV000527836 RCV001703423 RCV002276574 RCV002426520

NM_000088.4(COL1A1):c.2897A>G (p.Gln966Arg)

SNV
Germline

Chr17:50189208

Likely pathogenic

Osteogenesis imperfecta

Criteria Provided
Single Submitter

CA260302

rs_193922152

1 SubmittersRCV000029572

NM_000088.4(COL1A1):c.2932C>T (p.Pro978Ser)

SNV
Germline

Chr17:50189173

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type I
Familial thoracic aortic aneurysm and aortic dissection
not specified
Connective tissue disorder
Infantile cortical hyperostosis
Osteogenesis imperfecta
Ehlers-Danlos syndrome, arthrochalasia type
Condition: not provided
Ehlers-Danlos syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA260305

rs_193922153

10 SubmittersRCV000537025 RCV000607797 RCV000608881 RCV000680480 RCV001125487 RCV001125486 RCV001125488 RCV001535421 RCV002276575 RCV002433474

NM_000088.4(COL1A1):c.3076C>T (p.Arg1026Ter)

SNV
Germline

Chr17:50188765

Pathogenic

Osteogenesis imperfecta
Condition: not provided
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, arthrochalasia type
Osteogenesis imperfecta
Infantile cortical hyperostosis
Abnormality of the skeletal system
8 conditions
COL1A1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA260309

rs_72653173

16 SubmittersRCV000029575 RCV000498745 RCV000551341 RCV001535575 RCV001814012 RCV002504826 RCV004737165

NM_000088.4(COL1A1):c.370-2A>G

SNV
Germline

Chr17:50199329

Likely pathogenic

Osteogenesis imperfecta

Criteria Provided
Single Submitter

CA260312

rs_193922155

1 SubmittersRCV000029576

NM_000088.4(COL1A1):c.517G>T (p.Gly173Ter)

SNV
Germline

Chr17:50198459

Pathogenic/Likely pathogenic

Osteogenesis imperfecta
Osteogenesis imperfecta type I

Criteria Provided
Multiple Submitters
No Conflicts

CA260317

rs_193922157

2 SubmittersRCV000029579 RCV001852590

NM_000088.4(COL1A1):c.751-2A>G

SNV
Germline

Chr17:50197065

Pathogenic/Likely pathogenic

Osteogenesis imperfecta
Osteogenesis imperfecta type I

Criteria Provided
Multiple Submitters
No Conflicts

CA260325

rs_193922158

2 SubmittersRCV000029583 RCV000798967

NM_000088.4(COL1A1):c.805G>A (p.Gly269Ser)

SNV
Germline

Chr17:50196670

Pathogenic/Likely pathogenic

Osteogenesis imperfecta
Osteogenesis imperfecta type I

Criteria Provided
Multiple Submitters
No Conflicts

CA260326

rs_72645328

2 SubmittersRCV000029584 RCV001852591

NM_000089.4(COL1A2):c.1148C>A (p.Pro383His)

SNV
Germline

Chr7:94410478

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA260334

rs_193922159

4 SubmittersRCV001770043 RCV001824577 RCV002228061 RCV002453270

NM_000089.4(COL1A2):c.1295G>A (p.Arg432Gln)

SNV
Germline

Chr7:94411099

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Ehlers-Danlos syndrome, arthrochalasia type, 2
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, cardiac valvular type
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA260337

rs_139446305

7 SubmittersRCV000029590 RCV000412879 RCV001249446 RCV002228062 RCV004609296

NM_000089.4(COL1A2):c.1873G>A (p.Gly625Ser)

SNV
Germline

Chr7:94417733

Likely pathogenic

Osteogenesis imperfecta

Criteria Provided
Single Submitter

CA260345

rs_193922162

1 SubmittersRCV000029594

NM_000089.4(COL1A2):c.1991G>A (p.Gly664Asp)

SNV
Germline

Chr7:94418518

Pathogenic/Likely pathogenic

Osteogenesis imperfecta
Condition: not provided
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA260348

rs_72658154

3 SubmittersRCV000029595 RCV001781322 RCV002513242

NM_000089.4(COL1A2):c.2827G>A (p.Gly943Arg)

SNV
Germline

Chr7:94425655

Conflicting classifications of pathogenicity

Osteogenesis imperfecta
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA260359

rs_193922165

6 SubmittersRCV000029600 RCV001852592 RCV001843944 RCV002433475

NM_000089.4(COL1A2):c.3355G>C (p.Ala1119Pro)

SNV
Germline

Chr7:94427714

Conflicting classifications of pathogenicity

Osteogenesis imperfecta
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Conflicting Classifications

CA260370

rs_193922168

2 SubmittersRCV000029605 RCV002513244

NM_000089.4(COL1A2):c.677G>A (p.Gly226Asp)

SNV
Germline

Chr7:94408220

Likely pathogenic

Osteogenesis imperfecta
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA260382

rs_193922173

2 SubmittersRCV000029611 RCV003764639

NM_000089.4(COL1A2):c.838G>A (p.Gly280Ser)

SNV
Germline

Chr7:94409367

Pathogenic

Osteogenesis imperfecta
Condition: not provided
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
Increased susceptibility to fractures
Osteogenesis imperfecta, perinatal lethal
Ehlers-Danlos syndrome, arthrochalasia type, 2
COL1A2-related disorder
7 conditions
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA260386

rs_72656387

15 SubmittersRCV000029613 RCV000517418 RCV002288521 RCV002228065 RCV002255121 RCV003992162 RCV003989302 RCV004742233 RCV005031462 RCV005540011

NM_000089.4(COL1A2):c.945C>T (p.Pro315=)

SNV
Germline

Chr7:94409731

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
Ehlers-Danlos syndrome
Cardiovascular phenotype
COL1A2-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA260392

rs_147058179

7 SubmittersRCV001575964 RCV002054489 RCV002276581 RCV002371784 RCV003914866 RCV005237422

NM_006129.5(BMP1):c.747C>G (p.Phe249Leu)

SNV
Germline

Chr8:22177868

Likely pathogenic

Osteogenesis imperfecta type 13

Criteria Provided
Single Submitter

CA130155

rs_398122891

2 SubmittersRCV000030846

NM_006129.5(BMP1):c.34G>C (p.Gly12Arg)

SNV
Germline

Chr8:22165439

Pathogenic/Likely pathogenic

Osteogenesis imperfecta type 13
Condition: not provided
Abnormality of the skeletal system
Osteogenesis imperfecta

Criteria Provided
Multiple Submitters
No Conflicts

CA130156

rs_318240762

6 SubmittersRCV000030847 RCV000059794 RCV001814013 RCV004689429

NM_021939.3(FKBP10):c.1207C>T (p.Arg403Ter)

SNV
Germline

Chr17:41820412

Pathogenic

Osteogenesis imperfecta type 12

No Assertion Criteria Provided

CA130628

rs_372896892

1 SubmittersRCV000033069

NM_000088.4(COL1A1):c.4160C>T (p.Ala1387Val)

SNV
Unknown

Chr17:50185866

Pathogenic

Osteogenesis imperfecta, perinatal lethal

No Assertion Criteria Provided

CA261266

rs_397514672

1 SubmittersRCV000034355

NM_021939.4(FKBP10):c.337G>A (p.Glu113Lys)

SNV
Germline

Chr17:41817149

Pathogenic/Likely pathogenic

Bruck syndrome 1
Osteogenesis imperfecta type 11
Condition: not provided
Osteogenesis imperfecta
Osteogenesis imperfecta type 11
Bruck syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA130860

rs_397514674

6 SubmittersRCV000034360 RCV003137556 RCV003556108 RCV004579534 RCV005016321

NM_006371.5(CRTAP):c.561T>G (p.Tyr187Ter)

SNV
Germline

Chr3:33120433

Pathogenic

Osteogenesis imperfecta type 7

No Assertion Criteria Provided

CA130914

rs_387907334

1 SubmittersRCV000034836

NM_005430.4(WNT1):c.624+4A>G

SNV
Germline

Chr12:48980693

Pathogenic

Osteogenesis imperfecta type 15

No Assertion Criteria Provided

CA143722

rs_387907354

1 SubmittersRCV000043493

NM_005430.4(WNT1):c.565G>T (p.Glu189Ter)

SNV
Germline

Chr12:48980630

Pathogenic

Osteogenesis imperfecta type 15

No Assertion Criteria Provided

CA143723

rs_387907355

1 SubmittersRCV000043494

NM_005430.4(WNT1):c.884C>A (p.Ser295Ter)

SNV
Germline

Chr12:48981411

Pathogenic/Likely pathogenic

Osteogenesis imperfecta type 15
Condition: not provided
Inborn genetic diseases
Osteogenesis imperfecta type 15
OSTEOPOROSIS, EARLY-ONSET, SUSCEPTIBILITY TO

Criteria Provided
Multiple Submitters
No Conflicts

CA143725

rs_387907356

5 SubmittersRCV000043495 RCV000489304 RCV001267401 RCV005007964

NM_005430.4(WNT1):c.1063G>T (p.Val355Phe)

SNV
Germline

Chr12:48981590

Likely pathogenic

Osteogenesis imperfecta type 15
Keratoconus
Osteogenesis imperfecta

Criteria Provided
Single Submitter

CA143728

rs_387907358

3 SubmittersRCV000043497 RCV000678662 RCV006456650

NM_000088.4(COL1A1):c.3277C>T (p.Arg1093Cys)

SNV
Germline/somatic

Chr17:50187968

Conflicting classifications of pathogenicity

Prostate cancer
Osteogenesis imperfecta type I
Condition: not provided
Ehlers-Danlos syndrome
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1
8 conditions
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA174070

rs_72656307

8 SubmittersRCV000148991 RCV000631466 RCV001753528 RCV002277297 RCV002288660 RCV002492548 RCV005540015 RCV006268628

NM_002335.4(LRP5):c.3107G>A (p.Arg1036Gln)

SNV
Germline

Chr11:68423568

Conflicting classifications of pathogenicity

Polycystic kidney disease, adult type
not specified
9 conditions
Condition: not provided
Autosomal dominant osteopetrosis 1
Osteogenesis imperfecta
Autosomal dominant polycystic kidney disease
LRP5-related disorder

Criteria Provided
Conflicting Classifications

CA210921

rs_61889560

17 SubmittersRCV000162089 RCV000174732 RCV000765011 RCV000767146 RCV001260288 RCV002277317 RCV001844811 RCV004724952

NM_002335.4(LRP5):c.1360G>A (p.Val454Met)

SNV
Germline

Chr11:68386660

Conflicting classifications of pathogenicity

Polycystic liver disease 1
Polycystic liver disease 4 with or without kidney cysts
Osteogenesis imperfecta
Condition: not provided
6 conditions
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA210927

rs_373910016

6 SubmittersRCV000162092 RCV000584798 RCV002277318 RCV002515121 RCV005049440 RCV004815255

NM_001025295.3(IFITM5):c.119C>T (p.Ser40Leu)

SNV
Germline

Chr11:299372

Pathogenic

Osteogenesis imperfecta type 5
Condition: not provided
IFITM5-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA186137

rs_786201032

8 SubmittersRCV000162330 RCV000351373 RCV004757968

NM_006129.5(BMP1):c.2108-359T>C

SNV
Germline

Chr8:22201444

Pathogenic

Osteogenesis imperfecta type 13

No Assertion Criteria Provided

CA199627

rs_786205217

1 SubmittersRCV000170453

NM_006129.5(BMP1):c.2107G>C (p.Asp703His)

SNV
Germline

Chr8:22197420

Pathogenic

Osteogenesis imperfecta type 13

No Assertion Criteria Provided

CA199628

rs_786205218

1 SubmittersRCV000170454

NM_006129.5(BMP1):c.808A>G (p.Met270Val)

SNV
Germline

Chr8:22177929

Pathogenic

Osteogenesis imperfecta type 13

No Assertion Criteria Provided

CA199631

rs_786205219

1 SubmittersRCV000170455

NM_006129.5(BMP1):c.1297G>T (p.Ala433Ser)

SNV
Germline

Chr8:22194174

Pathogenic

Osteogenesis imperfecta type 13
Condition: not provided

Criteria Provided
Single Submitter

CA199632

rs_786205220

2 SubmittersRCV000170456 RCV003556216

NM_021939.4(FKBP10):c.917+53G>T

SNV
Germline

Chr17:41819452

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta type 11
FKBP10-related disorder

Criteria Provided
Conflicting Classifications

CA235969

rs_141387386

6 SubmittersRCV000171257 RCV000989848 RCV003917583

NM_000088.4(COL1A1):c.91C>T (p.Gln31Ter)

SNV
Germline

Chr17:50201423

Pathogenic

Condition: not provided
Osteogenesis imperfecta type I

Criteria Provided
Multiple Submitters
No Conflicts

CA274894

rs_794726873

3 SubmittersRCV000173063 RCV001852105

NM_000088.4(COL1A1):c.959G>A (p.Gly320Asp)

SNV
Germline

Chr17:50196198

Pathogenic/Likely pathogenic

Condition: not provided
Osteogenesis imperfecta type I

Criteria Provided
Multiple Submitters
No Conflicts

CA275017

rs_72645353

2 SubmittersRCV000174826 RCV003517139

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

SNV
Germline

Chr1:42746756

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA240595

rs_533729683

5 SubmittersRCV000724099 RCV001078667 RCV001097676 RCV003917620

NM_001235.5(SERPINH1):c.580C>A (p.Arg194Ser)

SNV
Germline

Chr11:75566929

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta type 10
Preterm premature rupture of membranes
Osteogenesis imperfecta type 10
not specified
SERPINH1-related disorder

Criteria Provided
Conflicting Classifications

CA241426

rs_141721173

8 SubmittersRCV000175693 RCV000261310 RCV000763776 RCV003330534 RCV004757153

NM_021939.4(FKBP10):c.246-5C>G

SNV
Germline

Chr17:41817053

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta type 11
Osteogenesis imperfecta
not specified
FKBP10-related disorder
Acute myeloid leukemia
Adrenocortical carcinoma, hereditary
Clear cell carcinoma of kidney
Malignant tumor of esophagus

Criteria Provided
Conflicting Classifications

CA241786

rs_140027863

10 SubmittersRCV000175935 RCV000329828 RCV002277369 RCV003330535 RCV003947491 RCV005889845 RCV005889847 RCV005889848 RCV005889846

NM_000089.4(COL1A2):c.1694G>C (p.Gly565Ala)

SNV
Germline

Chr7:94414250

Pathogenic/Likely pathogenic

Condition: not provided
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA243024

rs_794727470

2 SubmittersRCV000176911 RCV002516717

NM_001235.5(SERPINH1):c.721+9T>C

SNV
Germline

Chr11:75568838

Conflicting classifications of pathogenicity

not specified
Osteogenesis imperfecta type 10
Condition: not provided
Osteogenesis imperfecta

Criteria Provided
Conflicting Classifications

CA202301

rs_138193444

6 SubmittersRCV000177129 RCV000329748 RCV000971578 RCV002277389

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

4 SubmittersRCV000177330 RCV002054089

NM_000088.4(COL1A1):c.1984-5C>A

SNV
Germline

Chr17:50192029

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Connective tissue disorder
Osteogenesis imperfecta type I
Infantile cortical hyperostosis
Osteogenesis imperfecta
Ehlers-Danlos syndrome, arthrochalasia type
Ehlers-Danlos syndrome
Cardiovascular phenotype
Ehlers-Danlos/osteogenesis imperfecta syndrome
COL1A1-related disorder
Clear cell carcinoma of kidney
Colon adenocarcinoma
Gastric cancer
Ovarian serous cystadenocarcinoma
Thymoma
Lung cancer
Familial cancer of breast
Cervical cancer

Criteria Provided
Conflicting Classifications

CA202470

rs_66592376

22 SubmittersRCV000177437 RCV000514224 RCV000659353 RCV000989945 RCV001127681 RCV001127682 RCV001125582 RCV002277393 RCV002415762 RCV003993859 RCV004552992 RCV005889926 RCV005889924 RCV005889927 RCV005889928 RCV005889929 RCV005889930 RCV005889923 RCV005889925

NM_000088.4(COL1A1):c.2508C>T (p.Gly836=)

SNV
Germline

Chr17:50190052

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta type I
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA244807

rs_200620805

5 SubmittersRCV000177856 RCV001083073 RCV002433775

NM_001235.5(SERPINH1):c.744C>T (p.Asp248=)

SNV
Germline

Chr11:75568961

Conflicting classifications of pathogenicity

not specified
Osteogenesis imperfecta type 10
Condition: not provided
Osteogenesis imperfecta

Criteria Provided
Conflicting Classifications

CA202738

rs_61733248

7 SubmittersRCV000178158 RCV000388996 RCV000757756 RCV002277398

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_000088.4(COL1A1):c.3025C>T (p.Pro1009Ser)

SNV
Germline

Chr17:50188923

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta type I

Criteria Provided
Conflicting Classifications

CA245549

rs_794727663

2 SubmittersRCV000178451 RCV003631093

NM_000088.4(COL1A1):c.3060C>T (p.Ala1020=)

SNV
Germline

Chr17:50188781

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta type I
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA245590

rs_751239116

3 SubmittersRCV000178478 RCV000534294 RCV002444712

NM_002335.4(LRP5):c.1585-9G>A

SNV
Germline

Chr11:68403474

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta
not specified

Criteria Provided
Conflicting Classifications

CA247601

rs_202067798

7 SubmittersRCV000180228 RCV002277429 RCV004998386

NM_006371.5(CRTAP):c.471+2C>A

SNV
Germline

Chr3:33114550

Pathogenic/Likely pathogenic

Osteogenesis imperfecta type 7
Condition: not provided
Osteogenesis imperfecta
CRTAP-related disorder
Hepatocellular carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA204553

rs_137853943

12 SubmittersRCV000190575 RCV000255275 RCV002277445 RCV003927754 RCV005892212

NM_000088.4(COL1A1):c.2866G>A (p.Gly956Arg)

SNV
Germline

Chr17:50189239

Likely pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA281504

rs_797045033

1 SubmittersRCV000191071

NM_006371.5(CRTAP):c.471+2C>G

SNV
Germline

Chr3:33114550

Likely pathogenic

Osteogenesis imperfecta type 7
Nonpapillary renal cell carcinoma

No Assertion Criteria Provided

CA205864

rs_137853943

2 SubmittersRCV000192794 RCV005892404

NM_000089.4(COL1A2):c.2957C>T (p.Pro986Leu)

SNV
Germline

Chr7:94426011

Conflicting classifications of pathogenicity

Osteogenesis imperfecta with normal sclerae, dominant form
Osteogenesis imperfecta, perinatal lethal
Osteogenesis imperfecta type III
Condition: not provided
Osteogenesis imperfecta
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA277523

rs_768171831

5 SubmittersRCV000199225 RCV001589081 RCV002277551 RCV002519576 RCV004992076

NM_000089.4(COL1A2):c.3034G>A (p.Gly1012Ser)

SNV
Germline

Chr7:94426459

Pathogenic/Likely pathogenic

Osteogenesis imperfecta with normal sclerae, dominant form
Osteogenesis imperfecta, perinatal lethal
Osteogenesis imperfecta type III
Osteogenesis imperfecta with normal sclerae, dominant form
Osteogenesis imperfecta, perinatal lethal
Osteogenesis imperfecta
6 conditions
Condition: not provided
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, arthrochalasia type, 2

Criteria Provided
Multiple Submitters
No Conflicts

CA277502

rs_72659319

12 SubmittersRCV000197038 RCV000490657 RCV000664407 RCV000722167 RCV000763176 RCV001269648 RCV002229497 RCV004813077

NM_006371.5(CRTAP):c.118G>T (p.Glu40Ter)

SNV
Germline

Chr3:33114195

Pathogenic

Osteogenesis imperfecta type 7

Criteria Provided
Single Submitter

CA279115

rs_863225043

2 SubmittersRCV000201190

NM_000942.5(PPIB):c.569G>A (p.Arg190Gln)

SNV
Germline

Chr15:64156105

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Osteogenesis imperfecta
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA249033

rs_200864554

6 SubmittersRCV000202830 RCV000726716 RCV002277558 RCV002515494

NM_002615.7(SERPINF1):c.242C>G (p.Ser81Cys)

SNV
Germline

Chr17:1770009

Conflicting classifications of pathogenicity

not specified
Osteogenesis imperfecta type 6
Condition: not provided
Osteogenesis imperfecta
Osteoporosis
SERPINF1-related disorder

Criteria Provided
Conflicting Classifications

CA248888

rs_140512665

11 SubmittersRCV000202689 RCV000317548 RCV000657868 RCV002277560 RCV001843423 RCV003907757

NM_000088.4(COL1A1):c.613C>G (p.Pro205Ala)

SNV
Germline

Chr17:50197978

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Osteogenesis imperfecta
Connective tissue disorder
Infantile cortical hyperostosis
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, arthrochalasia type
Ehlers-Danlos syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA249240

rs_72667032

20 SubmittersRCV000203035 RCV000224220 RCV000487429 RCV000659348 RCV001124961 RCV001082142 RCV001124960 RCV002277557 RCV002354572

NM_002335.4(LRP5):c.3361A>G (p.Asn1121Asp)

SNV
Germline

Chr11:68425226

Conflicting classifications of pathogenicity

Exudative vitreoretinopathy 4
Condition: not provided
Osteogenesis imperfecta
LRP5-related disorder
Inborn genetic diseases
6 conditions

Criteria Provided
Conflicting Classifications

CA6149957

rs_80358317

8 SubmittersRCV000490288 RCV000486498 RCV002277573 RCV004742334 RCV005589791 RCV005003561

NM_000088.4(COL1A1):c.3766G>A (p.Ala1256Thr)

SNV
Germline

Chr17:50186688

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type I
Condition: not provided
Infantile cortical hyperostosis
Ehlers-Danlos syndrome, arthrochalasia type
Osteogenesis imperfecta
Ehlers-Danlos syndrome
Cardiovascular phenotype
Hypertrophic cardiomyopathy
not specified
Keratoconus
COL1A1-related disorder

Criteria Provided
Conflicting Classifications

CA8644359

rs_148216434

12 SubmittersRCV000490355 RCV000877791 RCV001126949 RCV001127360 RCV001127361 RCV002277572 RCV002347820 RCV003319187 RCV002298529 RCV003324521 RCV004737336

NM_000088.4(COL1A1):c.4018G>A (p.Gly1340Ser)

SNV
Germline

Chr17:50186008

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Connective tissue disorder
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome
Cardiovascular phenotype
COL1A1-related disorder

Criteria Provided
Conflicting Classifications

CA8644271

rs_147936946

15 SubmittersRCV000224096 RCV000602706 RCV000659363 RCV001089449 RCV002277585 RCV002354626 RCV004547573

NM_021939.4(FKBP10):c.590A>G (p.Lys197Arg)

SNV
Germline

Chr17:41818390

Conflicting classifications of pathogenicity

not specified
Osteogenesis imperfecta type 11
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8566304

rs_34764749

8 SubmittersRCV000249973 RCV000844870 RCV001573716

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_000089.4(COL1A2):c.577G>A (p.Gly193Ser)

SNV
Germline

Chr7:94406286

Pathogenic

Condition: not provided
Osteogenesis imperfecta type I
Postmenopausal osteoporosis
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I
7 conditions
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA4346716

rs_72656370

8 SubmittersRCV000255575 RCV000490744 RCV001526511 RCV002229832 RCV004796138 RCV004596152

NM_000089.4(COL1A2):c.1360G>T (p.Gly454Cys)

SNV
Germline

Chr7:94412077

Pathogenic

Condition: not provided
Osteogenesis imperfecta, perinatal lethal

Criteria Provided
Multiple Submitters
No Conflicts

CA4347024

rs_72658117

2 SubmittersRCV000255999 RCV004786641

NM_000088.4(COL1A1):c.1678G>A (p.Gly560Ser)

SNV
Germline

Chr17:50194032

Pathogenic

Condition: not provided
Osteogenesis imperfecta type I
Osteogenesis imperfecta
Ehlers-Danlos syndrome
COL1A1-related disorder
Osteogenesis imperfecta with normal sclerae, dominant form
Osteogenesis imperfecta type III
Osteogenesis imperfecta type I

Criteria Provided
Multiple Submitters
No Conflicts

CA10588664

rs_67507747

14 SubmittersRCV000255844 RCV000293333 RCV000722158 RCV002278251 RCV004725133 RCV005895447

NM_000088.4(COL1A1):c.1405C>T (p.Arg469Ter)

SNV
Germline

Chr17:50194777

Pathogenic

Condition: not provided
Osteogenesis imperfecta type I

Criteria Provided
Multiple Submitters
No Conflicts

CA10588665

rs_762428889

4 SubmittersRCV000254741 RCV000818022

NM_000088.4(COL1A1):c.757C>T (p.Arg253Ter)

SNV
Germline

Chr17:50197057

Pathogenic

Condition: not provided
Osteogenesis imperfecta type I
Osteogenesis imperfecta
Osteogenesis imperfecta with normal sclerae, dominant form
Osteogenesis imperfecta, perinatal lethal
Osteogenesis imperfecta type III
Osteogenesis imperfecta type I

Criteria Provided
Multiple Submitters
No Conflicts

CA10588666

rs_72645318

9 SubmittersRCV000255304 RCV000631490 RCV002278252 RCV004796141

NM_001235.5(SERPINH1):c.710T>C (p.Met237Thr)

SNV
Germline

Chr11:75568818

Pathogenic/Likely pathogenic

Osteogenesis imperfecta type 10
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10588848

rs_886039819

3 SubmittersRCV000256253 RCV002521861

NM_000088.4(COL1A1):c.3935G>A (p.Trp1312Ter)

SNV
Germline

Chr17:50186387

Likely pathogenic

Osteogenesis imperfecta type I

No Assertion Criteria Provided

CA10588936

rs_886039880

1 SubmittersRCV000256401

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_000088.4(COL1A1):c.1875+5G>C

SNV
Germline

Chr17:50192792

Pathogenic

Condition: not provided
Osteogenesis imperfecta type I

Criteria Provided
Multiple Submitters
No Conflicts

CA10603456

rs_886041866

2 SubmittersRCV000263616 RCV002519062

NM_000089.4(COL1A2):c.3047C>A (p.Pro1016His)

SNV
Germline

Chr7:94426472

Conflicting classifications of pathogenicity

Condition: not provided
6 conditions
Ehlers-Danlos syndrome, arthrochalasia type, 2
Osteogenesis imperfecta
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome
Cardiovascular phenotype
not specified
Ehlers-Danlos syndrome, cardiac valvular type
Ehlers-Danlos syndrome, arthrochalasia type
Osteogenesis imperfecta

Criteria Provided
Conflicting Classifications

CA4347649

rs_377278762

10 SubmittersRCV000723559 RCV000764736 RCV001162767 RCV001162768 RCV002229738 RCV002278258 RCV002446511 RCV005238819 RCV005863081

NM_000088.4(COL1A1):c.1005T>A (p.Gly335=)

SNV
Germline

Chr17:50195974

Conflicting classifications of pathogenicity

not specified
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, arthrochalasia type
Osteogenesis imperfecta
Infantile cortical hyperostosis
Condition: not provided
Ehlers-Danlos syndrome
Cardiovascular phenotype
COL1A1-related disorder

Criteria Provided
Conflicting Classifications

CA8645432

rs_375914028

9 SubmittersRCV000377775 RCV000631511 RCV001124862 RCV001124861 RCV001124863 RCV001711850 RCV002278262 RCV002411144 RCV004547656

NM_000088.4(COL1A1):c.2434G>A (p.Gly812Ser)

SNV
Germline

Chr17:50190344

Pathogenic/Likely pathogenic

Condition: not provided
Osteogenesis imperfecta
COL1A1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA10603999

rs_886042260

3 SubmittersRCV000400501 RCV003479089 RCV004547659

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_001173467.3(SP7):c.1272G>A (p.Glu424=)

SNV
Germline

Chr12:53328170

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta type 12

Criteria Provided
Conflicting Classifications

CA6599419

rs_182820275

4 SubmittersRCV000351342 RCV003640884

NM_000089.4(COL1A2):c.2904C>T (p.Pro968=)

SNV
Germline

Chr7:94425818

Conflicting classifications of pathogenicity

Condition: not provided
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, arthrochalasia type, 2
Osteogenesis imperfecta
Ehlers-Danlos syndrome
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA4347595

rs_142352627

11 SubmittersRCV000710782 RCV001089359 RCV001161215 RCV001161216 RCV002278275 RCV002436101 RCV005238826

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
Clear cell carcinoma of kidney
Colorectal cancer
Hepatocellular carcinoma
Lung cancer
Colon adenocarcinoma
Sarcoma
Malignant tumor of urinary bladder
Malignant tumor of esophagus
Cervical cancer
Familial cancer of breast
Gastric cancer
Ovarian serous cystadenocarcinoma
Melanoma
Acute myeloid leukemia

Criteria Provided
Conflicting Classifications

CA801884

rs_113593896

12 SubmittersRCV000402019 RCV000487953 RCV001079324 RCV002278278 RCV003982984 RCV005895610 RCV005895611 RCV005895607 RCV005895616 RCV005895604 RCV005895612 RCV005895606 RCV005895608 RCV005895609 RCV005895603 RCV005895613 RCV005895614 RCV005895615 RCV005895605

NM_000088.4(COL1A1):c.2288G>A (p.Arg763His)

SNV
Germline

Chr17:50190872

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta type I
See cases
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA8644877

rs_144820445

8 SubmittersRCV000725475 RCV001051624 RCV004584379 RCV004992154 RCV005238836

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_000088.4(COL1A1):c.1249C>G (p.Pro417Ala)

SNV
Germline

Chr17:50195282

Conflicting classifications of pathogenicity

not specified
Osteogenesis imperfecta type I
Infantile cortical hyperostosis
Osteogenesis imperfecta
Ehlers-Danlos syndrome, arthrochalasia type
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA8645333

rs_72648327

7 SubmittersRCV000307161 RCV000864424 RCV001127852 RCV001127854 RCV001127853 RCV001711856 RCV002401987

NM_006371.5(CRTAP):c.732C>T (p.Leu244=)

SNV
Germline

Chr3:33124518

Conflicting classifications of pathogenicity

not specified
Osteogenesis imperfecta type 7
Condition: not provided
Osteogenesis imperfecta
CRTAP-related disorder

Criteria Provided
Conflicting Classifications

CA2300367

rs_149119710

8 SubmittersRCV000290568 RCV000551070 RCV001537842 RCV002278291 RCV003957435

NM_021939.4(FKBP10):c.21C>T (p.Pro7=)

SNV
Germline

Chr17:41813055

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta type 11

Criteria Provided
Conflicting Classifications

CA8566108

rs_781985978

6 SubmittersRCV000333394 RCV000844865

NM_000088.4(COL1A1):c.3733A>T (p.Ile1245Phe)

SNV
Germline

Chr17:50186721

Conflicting classifications of pathogenicity

Condition: not provided
Ehlers-Danlos syndrome, arthrochalasia type
Osteogenesis imperfecta
Infantile cortical hyperostosis
Osteogenesis imperfecta type I
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA8644370

rs_199514372

6 SubmittersRCV000319514 RCV001127366 RCV001127365 RCV001127367 RCV001296479 RCV002348009

NM_000088.4(COL1A1):c.2089C>T (p.Arg697Ter)

SNV
Germline

Chr17:50191826

Pathogenic

Osteogenesis imperfecta type I
Osteogenesis imperfecta with normal sclerae, dominant form
Condition: not provided
7 conditions
COL1A1-related disorder
8 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA10605745

rs_72651642

10 SubmittersRCV000358677 RCV000490669 RCV000497565 RCV000763409 RCV005869219 RCV004796153

NM_002335.4(LRP5):c.2124G>A (p.Ser708=)

SNV
Germline

Chr11:68409946

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta
LRP5-related disorder

Criteria Provided
Conflicting Classifications

CA6149545

rs_140977837

5 SubmittersRCV000263817 RCV002278304 RCV003909998

NM_000088.4(COL1A1):c.740C>T (p.Pro247Leu)

SNV
Germline

Chr17:50197190

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta type I
Cardiovascular phenotype
Ehlers-Danlos syndrome
not specified
COL1A1-related disorder

Criteria Provided
Conflicting Classifications

CA8645573

rs_199626372

9 SubmittersRCV000346609 RCV000686753 RCV002379141 RCV002278310 RCV004782344 RCV004549603

NM_000089.4(COL1A2):c.1611+9T>A

SNV
Germline

Chr7:94413752

Conflicting classifications of pathogenicity

Condition: not provided
Ehlers-Danlos syndrome, arthrochalasia type, 2
Osteogenesis imperfecta
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Conflicting Classifications

CA4347128

rs_200333208

3 SubmittersRCV000400906 RCV001164621 RCV001164622 RCV002229750

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_000089.4(COL1A2):c.2944-4A>T

SNV
Germline

Chr7:94425994

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA4347620

rs_143220941

4 SubmittersRCV000396949 RCV000726182 RCV002059242 RCV004021256

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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA801807

rs_149894086

6 SubmittersRCV000381836 RCV000756458 RCV002059256 RCV003910018 RCV006362218

NM_002615.7(SERPINF1):c.202G>C (p.Val68Leu)

SNV
Germline

Chr17:1769969

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta type 6
Osteogenesis imperfecta
SERPINF1-related disorder

Criteria Provided
Conflicting Classifications

CA8274569

rs_143827025

9 SubmittersRCV000360246 RCV000389606 RCV002278319 RCV003940071

NM_001235.5(SERPINH1):c.92G>C (p.Gly31Ala)

SNV
Germline

Chr11:75566441

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta type 10
SERPINH1-related disorder

Criteria Provided
Conflicting Classifications

CA6190719

rs_140588417

6 SubmittersRCV000343777 RCV000387403 RCV003949952

NM_001025295.3(IFITM5):c.100C>T (p.Arg34Ter)

SNV
Germline

Chr11:299391

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta type 5

Criteria Provided
Conflicting Classifications

CA5773490

rs_531009160

3 SubmittersRCV000286092 RCV000763734

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_182943.3(PLOD2):c.1732A>G (p.Ile578Val)

SNV
Germline

Chr3:146073298

Conflicting classifications of pathogenicity

Bruck syndrome 2
Condition: not provided
Osteogenesis imperfecta

Criteria Provided
Conflicting Classifications

CA2654797

rs_558336915

3 SubmittersRCV000329070 RCV002057849 RCV002278536

NM_006371.5(CRTAP):c.282C>T (p.Pro94=)

SNV
Germline

Chr3:33114359

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type 7
Osteogenesis imperfecta
CRTAP-related disorder

Criteria Provided
Conflicting Classifications

CA2300239

rs_540998437

4 SubmittersRCV000391551 RCV002278542 RCV003932395

NM_006371.5(CRTAP):c.930C>T (p.Asp310=)

SNV
Germline

Chr3:33132562

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type 7

Criteria Provided
Conflicting Classifications

CA10615647

rs_762039541

2 SubmittersRCV000322818

NM_006371.5(CRTAP):c.634C>T (p.Arg212Ter)

SNV
Germline

Chr3:33124420

Pathogenic/Likely pathogenic

Osteogenesis imperfecta type 7

Criteria Provided
Multiple Submitters
No Conflicts

CA2300343

rs_137853944

4 SubmittersRCV000368253

NM_006371.5(CRTAP):c.1068+11T>C

SNV
Germline

Chr3:33132711

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type 7

Criteria Provided
Conflicting Classifications

CA2300479

rs_761750861

2 SubmittersRCV000383107

NM_006371.5(CRTAP):c.-35C>T

SNV
Germline

Chr3:33114043

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type 7
not specified

Criteria Provided
Conflicting Classifications

CA2300162

rs_567359532

2 SubmittersRCV000285629 RCV000418227

NM_006371.5(CRTAP):c.446A>G (p.Lys149Arg)

SNV
Germline

Chr3:33114523

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type 7
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA2300276

rs_201564256

6 SubmittersRCV000559577 RCV001355127 RCV005407071

NM_000089.4(COL1A2):c.279+12T>C

SNV
Germline

Chr7:94401632

Conflicting classifications of pathogenicity

Osteogenesis imperfecta
Ehlers-Danlos syndrome, arthrochalasia type, 2
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Conflicting Classifications

CA4346598

rs_751199493

2 SubmittersRCV000283180 RCV000340617 RCV002058681

NM_000089.4(COL1A2):c.1564C>T (p.Pro522Ser)

SNV
Germline

Chr7:94413696

Conflicting classifications of pathogenicity

Osteogenesis imperfecta
Ehlers-Danlos syndrome, arthrochalasia type, 2
Cardiovascular phenotype
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA4347121

rs_199732595

5 SubmittersRCV000309575 RCV000364117 RCV002402075 RCV002058685 RCV001764329 RCV006263909

NM_000089.4(COL1A2):c.2168A>G (p.Asn723Ser)

SNV
Germline

Chr7:94420425

Conflicting classifications of pathogenicity

Ehlers-Danlos syndrome, arthrochalasia type, 2
Osteogenesis imperfecta
Connective tissue disorder
Condition: not provided
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA4347339

rs_189374343

7 SubmittersRCV000307937 RCV000404554 RCV000659378 RCV001718783 RCV002229911 RCV002429325 RCV005238947

NM_000089.4(COL1A2):c.3014G>A (p.Arg1005His)

SNV
Germline

Chr7:94426439

Conflicting classifications of pathogenicity

Osteogenesis imperfecta
Ehlers-Danlos syndrome, arthrochalasia type, 2
Condition: not provided
Cardiovascular phenotype
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
not specified

Criteria Provided
Conflicting Classifications

CA4347646

rs_200357942

5 SubmittersRCV000333439 RCV000387802 RCV001764330 RCV003168563 RCV002229913 RCV006268755

NM_006129.5(BMP1):c.2724C>T (p.Thr908=)

SNV
Germline

Chr8:22209593

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type 13
Condition: not provided
Osteogenesis imperfecta

Criteria Provided
Conflicting Classifications

CA4665345

rs_140092629

4 SubmittersRCV000305191 RCV000900084 RCV002278625

NM_000089.4(COL1A2):c.81+8A>C

SNV
Germline

Chr7:94397766

Conflicting classifications of pathogenicity

Ehlers-Danlos syndrome, arthrochalasia type, 2
Osteogenesis imperfecta
Connective tissue disorder
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Conflicting Classifications

CA4346456

rs_765118884

3 SubmittersRCV000272171 RCV000364665 RCV000659365 RCV003766071

NM_000089.4(COL1A2):c.1036-14G>T

SNV
Germline

Chr7:94410228

Conflicting classifications of pathogenicity

Osteogenesis imperfecta
Ehlers-Danlos syndrome, arthrochalasia type, 2
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Conflicting Classifications

CA4346917

rs_114322680

2 SubmittersRCV000286145 RCV000322286 RCV003766073

NM_000089.4(COL1A2):c.1051G>A (p.Ala351Thr)

SNV
Germline

Chr7:94410257

Conflicting classifications of pathogenicity

Osteogenesis imperfecta
Ehlers-Danlos syndrome, arthrochalasia type, 2
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
Intellectual disability
Ehlers-Danlos syndrome, cardiac valvular type

Criteria Provided
Conflicting Classifications

CA4346925

rs_755610740

4 SubmittersRCV000337632 RCV000405013 RCV002229985 RCV005625567 RCV004786671

NM_000089.4(COL1A2):c.2566-6A>G

SNV
Germline

Chr7:94424330

Conflicting classifications of pathogenicity

Ehlers-Danlos syndrome, arthrochalasia type, 2
Osteogenesis imperfecta
Connective tissue disorder
Condition: not provided
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
Ehlers-Danlos syndrome
not specified
Intellectual disability

Criteria Provided
Conflicting Classifications

CA4347500

rs_141088934

10 SubmittersRCV000263221 RCV000299556 RCV000680489 RCV001697767 RCV002229989 RCV002278616 RCV005238949 RCV005625568

NM_000089.4(COL1A2):c.3754A>G (p.Thr1252Ala)

SNV
Germline

Chr7:94429230

Conflicting classifications of pathogenicity

Ehlers-Danlos syndrome, arthrochalasia type, 2
Osteogenesis imperfecta
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4347849

rs_761465504

5 SubmittersRCV000274353 RCV000369007 RCV001861311 RCV004992186 RCV005230275

NM_000089.4(COL1A2):c.3883T>C (p.Ser1295Pro)

SNV
Germline

Chr7:94429359

Conflicting classifications of pathogenicity

Osteogenesis imperfecta
Ehlers-Danlos syndrome, arthrochalasia type, 2
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA4347875

rs_757449082

3 SubmittersRCV000284047 RCV000380433 RCV001861312 RCV004609369

NM_006129.5(BMP1):c.402C>T (p.Val134=)

SNV
Germline

Chr8:22176282

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4664247

rs_773025752

2 SubmittersRCV000401558 RCV002058717

NM_000089.4(COL1A2):c.693+12C>A

SNV
Germline

Chr7:94408248

Conflicting classifications of pathogenicity

Ehlers-Danlos syndrome, arthrochalasia type, 2
Osteogenesis imperfecta
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Conflicting Classifications

CA4346769

rs_767990110

2 SubmittersRCV000284363 RCV000339365 RCV003766072

NM_000089.4(COL1A2):c.2456G>A (p.Arg819His)

SNV
Germline

Chr7:94423009

Conflicting classifications of pathogenicity

Ehlers-Danlos syndrome, arthrochalasia type, 2
Osteogenesis imperfecta
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
Cardiovascular phenotype
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA4347450

rs_773985005

9 SubmittersRCV000344148 RCV000394670 RCV001262348 RCV002229912 RCV002429326 RCV003159117 RCV005238948

NM_000089.4(COL1A2):c.3313G>A (p.Gly1105Ser)

SNV
Germline

Chr7:94427672

Conflicting classifications of pathogenicity

Osteogenesis imperfecta
Ehlers-Danlos syndrome, arthrochalasia type, 2
Condition: not provided
not specified
Connective tissue disorder
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
Ehlers-Danlos syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA4347736

rs_139851311

12 SubmittersRCV000286436 RCV000342187 RCV000513852 RCV000432079 RCV000659381 RCV002229990 RCV002278617 RCV004022060

NM_000089.4(COL1A2):c.1971+5G>A

SNV
Germline

Chr7:94417836

Conflicting classifications of pathogenicity

Ehlers-Danlos syndrome, arthrochalasia type, 2
Osteogenesis imperfecta
Condition: not provided
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Conflicting Classifications

CA10629666

rs_375027186

3 SubmittersRCV000350991 RCV000386729 RCV001613205 RCV002229987

NM_006129.5(BMP1):c.1623C>T (p.Ala541=)

SNV
Germline

Chr8:22194903

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type 13
Condition: not provided
Osteogenesis imperfecta

Criteria Provided
Conflicting Classifications

CA4664720

rs_181639729

4 SubmittersRCV000366133 RCV002058720 RCV002278619

NM_006129.5(BMP1):c.2406C>T (p.Tyr802=)

SNV
Germline

Chr8:22207347

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type 13
Condition: not provided
BMP1-related disorder

Criteria Provided
Conflicting Classifications

CA4665235

rs_144666655

4 SubmittersRCV000387090 RCV000969540 RCV003922627

NM_006129.5(BMP1):c.2430G>T (p.Gly810=)

SNV
Germline

Chr8:22207371

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type 13
Condition: not provided
BMP1-related disorder

Criteria Provided
Conflicting Classifications

CA4665242

rs_374092044

4 SubmittersRCV000352461 RCV001551908 RCV003922628

NM_006129.5(BMP1):c.2445C>T (p.Ala815=)

SNV
Germline

Chr8:22207386

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4665252

rs_200867122

2 SubmittersRCV000381539 RCV002524559

NM_006129.5(BMP1):c.1317G>A (p.Val439=)

SNV
Germline

Chr8:22194464

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4664640

rs_373100053

2 SubmittersRCV000362174 RCV002058719

NM_001235.5(SERPINH1):c.481A>C (p.Ile161Leu)

SNV
Germline

Chr11:75566830

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type 10
Condition: not provided
Osteogenesis imperfecta
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6190820

rs_112083274

4 SubmittersRCV000359789 RCV002056239 RCV002278386 RCV002520765

NM_001235.5(SERPINH1):c.492C>T (p.Arg164=)

SNV
Germline

Chr11:75566841

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type 10
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6190824

rs_150586616

4 SubmittersRCV000306124 RCV001558810

NM_001235.5(SERPINH1):c.298G>A (p.Glu100Lys)

SNV
Germline

Chr11:75566647

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type 10
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6190773

rs_749665611

3 SubmittersRCV000403806 RCV001396318

NM_001235.5(SERPINH1):c.600A>C (p.Leu200=)

SNV
Germline

Chr11:75566949

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type 10
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6190851

rs_764723506

2 SubmittersRCV000357410 RCV002056240

NM_001235.5(SERPINH1):c.*4C>G

SNV
Germline

Chr11:75572087

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type 10
Condition: not provided
Osteogenesis imperfecta

Criteria Provided
Conflicting Classifications

CA6191063

rs_550152153

4 SubmittersRCV000283052 RCV000597480 RCV002278388

NM_000088.4(COL1A1):c.*378C>G

SNV
Germline

Chr17:50185124

Conflicting classifications of pathogenicity

Osteogenesis imperfecta
Infantile cortical hyperostosis
Ehlers-Danlos syndrome, arthrochalasia type
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10640055

rs_148131473

2 SubmittersRCV000282462 RCV000316593 RCV000374673 RCV002510861

NM_000088.4(COL1A1):c.3099+7T>C

SNV
Germline

Chr17:50188735

Conflicting classifications of pathogenicity

Infantile cortical hyperostosis
Ehlers-Danlos syndrome, arthrochalasia type
Osteogenesis imperfecta
not specified
Condition: not provided
Connective tissue disorder
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome

Criteria Provided
Conflicting Classifications

CA8644578

rs_201682029

14 SubmittersRCV000291739 RCV000346597 RCV000399463 RCV000444155 RCV000527323 RCV000659356 RCV001087478 RCV002278492

NM_000088.4(COL1A1):c.2743C>T (p.Pro915Ser)

SNV
Germline

Chr17:50189463

Conflicting classifications of pathogenicity

Osteogenesis imperfecta
Ehlers-Danlos syndrome, arthrochalasia type
Infantile cortical hyperostosis
Condition: not provided
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome
not specified

Criteria Provided
Conflicting Classifications

CA8644692

rs_756337302

5 SubmittersRCV000283301 RCV000343018 RCV000392300 RCV001533845 RCV001345234 RCV002278493 RCV005238907

NM_000088.4(COL1A1):c.1233C>T (p.Phe411=)

SNV
Germline

Chr17:50195298

Conflicting classifications of pathogenicity

Ehlers-Danlos syndrome, arthrochalasia type
Infantile cortical hyperostosis
Osteogenesis imperfecta
not specified
Osteogenesis imperfecta type I
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA8645341

rs_776387246

5 SubmittersRCV000297504 RCV000355103 RCV000404386 RCV000609843 RCV001411271 RCV002374553

NM_000942.5(PPIB):c.597C>T (p.Ile199=)

SNV
Germline

Chr15:64156077

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type 9
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7608430

rs_369889089

3 SubmittersRCV000296866 RCV000930750

NM_002615.7(SERPINF1):c.85-14C>T

SNV
Germline

Chr17:1769838

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type 6
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8274532

rs_200755661

3 SubmittersRCV000273659 RCV002056559

NM_002615.7(SERPINF1):c.643+6C>T

SNV
Germline

Chr17:1772081

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type 6
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8274760

rs_199908714

3 SubmittersRCV000398020 RCV001565046

NM_002615.7(SERPINF1):c.1119C>G (p.Pro373=)

SNV
Germline

Chr17:1777308

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type 6
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8274963

rs_148717983

2 SubmittersRCV000318099 RCV002061218

NM_021939.4(FKBP10):c.1098C>T (p.Phe366=)

SNV
Germline

Chr17:41820303

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type 11
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10645647

rs_886052923

2 SubmittersRCV000297418 RCV003765878

NM_000088.4(COL1A1):c.3630C>T (p.His1210=)

SNV
Germline

Chr17:50186824

Conflicting classifications of pathogenicity

Infantile cortical hyperostosis
Osteogenesis imperfecta
Ehlers-Danlos syndrome, arthrochalasia type
Osteogenesis imperfecta type I
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA8644385

rs_745320719

3 SubmittersRCV000287980 RCV000347596 RCV000407725 RCV002522988 RCV003168478

NM_000088.4(COL1A1):c.3424-6C>A

SNV
Germline

Chr17:50187128

Conflicting classifications of pathogenicity

Infantile cortical hyperostosis
Osteogenesis imperfecta
Ehlers-Danlos syndrome, arthrochalasia type
Osteogenesis imperfecta type I
Condition: not provided
not specified
Ovarian serous cystadenocarcinoma
Uterine corpus endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA8644438

rs_370865189

8 SubmittersRCV000304006 RCV000354143 RCV000404536 RCV000543436 RCV001718678 RCV005407058 RCV005894644 RCV005894645

NM_000088.4(COL1A1):c.3099+7T>G

SNV
Germline

Chr17:50188735

Conflicting classifications of pathogenicity

Infantile cortical hyperostosis
Osteogenesis imperfecta
Ehlers-Danlos syndrome, arthrochalasia type
Condition: not provided
Osteogenesis imperfecta type I

Criteria Provided
Conflicting Classifications

CA10646180

rs_201682029

3 SubmittersRCV000295387 RCV000326966 RCV000381638 RCV004694340 RCV005090493

NM_000088.4(COL1A1):c.1002+10G>T

SNV
Germline

Chr17:50196145

Conflicting classifications of pathogenicity

Osteogenesis imperfecta
Infantile cortical hyperostosis
Ehlers-Danlos syndrome, arthrochalasia type
not specified
Osteogenesis imperfecta type I
Condition: not provided
Ehlers-Danlos syndrome

Criteria Provided
Conflicting Classifications

CA8645452

rs_368316440

6 SubmittersRCV000275662 RCV000333042 RCV000389869 RCV000730396 RCV001080239 RCV000841032 RCV002278496

NM_000088.4(COL1A1):c.627C>T (p.Gly209=)

SNV
Germline

Chr17:50197964

Conflicting classifications of pathogenicity

Ehlers-Danlos syndrome, arthrochalasia type
Infantile cortical hyperostosis
Osteogenesis imperfecta
Condition: not provided
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome
Cardiovascular phenotype
Colon adenocarcinoma
Familial cancer of breast
Clear cell carcinoma of kidney
Thyroid cancer, nonmedullary, 1

Criteria Provided
Conflicting Classifications

CA8645632

rs_201136122

8 SubmittersRCV000298870 RCV000355982 RCV000392198 RCV000726816 RCV001079759 RCV002278497 RCV002365387 RCV005894647 RCV005894646 RCV005894648 RCV005894649

NM_000088.4(COL1A1):c.528C>T (p.Ser176=)

SNV
Germline

Chr17:50198448

Conflicting classifications of pathogenicity

Ehlers-Danlos syndrome, arthrochalasia type
Osteogenesis imperfecta
Infantile cortical hyperostosis
Osteogenesis imperfecta type I
Condition: not provided
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA8645681

rs_748856187

5 SubmittersRCV000276290 RCV000311677 RCV000368586 RCV000542211 RCV001555722 RCV002348068 RCV005238908

NM_000088.4(COL1A1):c.229G>A (p.Glu77Lys)

SNV
Germline

Chr17:50199822

Conflicting classifications of pathogenicity

Infantile cortical hyperostosis
Osteogenesis imperfecta
Ehlers-Danlos syndrome, arthrochalasia type
Osteogenesis imperfecta type I

Criteria Provided
Conflicting Classifications

CA8645806

rs_753683126

2 SubmittersRCV000278484 RCV000323135 RCV000380061 RCV002522989

NM_000088.4(COL1A1):c.-23G>A

SNV
Germline

Chr17:50201536

Conflicting classifications of pathogenicity

Infantile cortical hyperostosis
Osteogenesis imperfecta
Ehlers-Danlos syndrome, arthrochalasia type

Criteria Provided
Conflicting Classifications

CA8645899

rs_200689194

1 SubmittersRCV000302289 RCV000365246 RCV000392860

NM_002615.7(SERPINF1):c.840G>T (p.Leu280=)

SNV
Germline

Chr17:1776585

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type 6
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8274874

rs_200114659

2 SubmittersRCV000275737 RCV002056564

NM_000088.4(COL1A1):c.*1165C>G

SNV
Germline

Chr17:50184337

Conflicting classifications of pathogenicity

Infantile cortical hyperostosis
Osteogenesis imperfecta
Ehlers-Danlos syndrome, arthrochalasia type
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10649639

rs_149419718

3 SubmittersRCV000261749 RCV000319203 RCV000377245 RCV001848666

NM_000088.4(COL1A1):c.*202A>G

SNV
Germline

Chr17:50185300

Conflicting classifications of pathogenicity

Ehlers-Danlos syndrome, arthrochalasia type
Infantile cortical hyperostosis
Osteogenesis imperfecta
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10649649

rs_564917505

2 SubmittersRCV000270815 RCV000315320 RCV000369990 RCV002510862

NM_000088.4(COL1A1):c.4372G>A (p.Val1458Ile)

SNV
Germline

Chr17:50185525

Conflicting classifications of pathogenicity

Infantile cortical hyperostosis
Ehlers-Danlos syndrome, arthrochalasia type
Osteogenesis imperfecta
Osteogenesis imperfecta type I
Condition: not provided
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA8644169

rs_138557594

5 SubmittersRCV000313055 RCV000338677 RCV000407503 RCV000798385 RCV001590959 RCV005318373 RCV005431615

NM_000088.4(COL1A1):c.3233T>C (p.Val1078Ala)

SNV
Germline

Chr17:50188124

Conflicting classifications of pathogenicity

Osteogenesis imperfecta
Ehlers-Danlos syndrome, arthrochalasia type
Infantile cortical hyperostosis
Condition: not provided
Osteogenesis imperfecta type I
7 conditions
Cardiovascular phenotype
Ehlers-Danlos syndrome
COL1A1-related disorder

Criteria Provided
Conflicting Classifications

CA8644518

rs_767525556

7 SubmittersRCV000259210 RCV000319126 RCV000355446 RCV000521091 RCV000695671 RCV000765369 RCV002323528 RCV002278491 RCV004737438

NM_000088.4(COL1A1):c.2467C>G (p.Pro823Ala)

SNV
Germline

Chr17:50190093

Conflicting classifications of pathogenicity

Infantile cortical hyperostosis
Ehlers-Danlos syndrome, arthrochalasia type
Osteogenesis imperfecta
Condition: not provided
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome
Cardiovascular phenotype
COL1A1-related disorder

Criteria Provided
Conflicting Classifications

CA8644787

rs_1800214

7 SubmittersRCV000268773 RCV000315437 RCV000363370 RCV000438177 RCV001087908 RCV002278494 RCV002446584 RCV004549711

NM_021939.4(FKBP10):c.520G>A (p.Gly174Ser)

SNV
Germline

Chr17:41818217

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type 11
Condition: not provided
Bruck syndrome 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8566264

rs_140950528

5 SubmittersRCV000352068 RCV002522960 RCV001329235 RCV004021702

NM_021939.4(FKBP10):c.573C>T (p.Phe191=)

SNV
Germline

Chr17:41818270

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type 11
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8566280

rs_577264401

2 SubmittersRCV000381080 RCV002056598

NM_021939.4(FKBP10):c.825C>A (p.Leu275=)

SNV
Germline

Chr17:41819307

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type 11
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8566373

rs_782638955

2 SubmittersRCV000301017 RCV000942336

NM_021939.4(FKBP10):c.984G>A (p.Gln328=)

SNV
Germline

Chr17:41819596

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type 11
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8566447

rs_566306530

2 SubmittersRCV000337131 RCV003765877

NM_000088.4(COL1A1):c.*981G>C

SNV
Germline

Chr17:50184521

Conflicting classifications of pathogenicity

Osteogenesis imperfecta
Infantile cortical hyperostosis
Ehlers-Danlos syndrome, arthrochalasia type
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10650523

rs_574167621

2 SubmittersRCV000301902 RCV000340545 RCV000402935 RCV003409509

NM_000088.4(COL1A1):c.*21G>C

SNV
Germline

Chr17:50185481

Conflicting classifications of pathogenicity

Osteogenesis imperfecta
Infantile cortical hyperostosis
Ehlers-Danlos syndrome, arthrochalasia type

Criteria Provided
Conflicting Classifications

CA8644160

rs_201085309

1 SubmittersRCV000279151 RCV000342367 RCV000373598

NM_000088.4(COL1A1):c.3815-12G>T

SNV
Germline

Chr17:50186519

Conflicting classifications of pathogenicity

Osteogenesis imperfecta
Infantile cortical hyperostosis
Ehlers-Danlos syndrome, arthrochalasia type
Condition: not provided
Osteogenesis imperfecta type I
not specified

Criteria Provided
Conflicting Classifications

CA8644332

rs_201066018

4 SubmittersRCV000292780 RCV000351084 RCV000387080 RCV000827217 RCV002056611 RCV004782357

NM_000088.4(COL1A1):c.3169G>A (p.Val1057Ile)

SNV
Germline

Chr17:50188568

Conflicting classifications of pathogenicity

Ehlers-Danlos syndrome, arthrochalasia type
Infantile cortical hyperostosis
Osteogenesis imperfecta
7 conditions
Condition: not provided
Osteogenesis imperfecta type I
not specified

Criteria Provided
Conflicting Classifications

CA8644548

rs_575285203

5 SubmittersRCV000274658 RCV000329876 RCV000389062 RCV000765370 RCV000828389 RCV001084727 RCV006458262

NM_000088.4(COL1A1):c.649A>T (p.Met217Leu)

SNV
Germline

Chr17:50197779

Conflicting classifications of pathogenicity

Infantile cortical hyperostosis
Osteogenesis imperfecta
Ehlers-Danlos syndrome, arthrochalasia type
Condition: not provided
Osteogenesis imperfecta type I

Criteria Provided
Conflicting Classifications

CA10650543

rs_763409550

3 SubmittersRCV000285300 RCV000342628 RCV000392202 RCV000710774 RCV002521115

NM_000088.4(COL1A1):c.334-5C>A

SNV
Germline

Chr17:50199458

Conflicting classifications of pathogenicity

Ehlers-Danlos syndrome, arthrochalasia type
Infantile cortical hyperostosis
Osteogenesis imperfecta
Condition: not provided
Osteogenesis imperfecta type I
See cases
Cardiovascular phenotype
COL1A1-related disorder

Criteria Provided
Conflicting Classifications

CA8645741

rs_115997082

7 SubmittersRCV000271447 RCV000333833 RCV000362772 RCV000497393 RCV001514913 RCV002252095 RCV002323529 RCV004549712

NM_000089.4(COL1A2):c.2512G>A (p.Gly838Ser)

SNV
Germline

Chr7:94423065

Likely pathogenic

Osteogenesis imperfecta, perinatal lethal

Criteria Provided
Single Submitter

CA10654759

rs_1057516036

1 SubmittersRCV000408630

NM_003118.4(SPARC):c.497G>A (p.Arg166His)

SNV
Germline

Chr5:151667555

Pathogenic

Osteogenesis imperfecta type 17

No Assertion Criteria Provided

CA16042210

rs_1057517662

1 SubmittersRCV000412625

NM_003118.4(SPARC):c.787G>A (p.Glu263Lys)

SNV
Germline

Chr5:151664183

Pathogenic

Osteogenesis imperfecta type 17

No Assertion Criteria Provided

CA16042211

rs_1057517663

1 SubmittersRCV000412523

NM_000089.4(COL1A2):c.586G>T (p.Gly196Cys)

SNV
Germline

Chr7:94406295

Pathogenic

Condition: not provided
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Multiple Submitters
No Conflicts

CA16042602

rs_1057517953

2 SubmittersRCV000414693 RCV001861415

NM_000089.4(COL1A2):c.2531G>C (p.Gly844Ala)

SNV
Germline

Chr7:94423084

Likely pathogenic

Condition: not provided
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16042607

rs_928361235

2 SubmittersRCV000414112 RCV002230748

NM_000089.4(COL1A2):c.3853A>C (p.Asn1285His)

SNV
Germline

Chr7:94429329

Conflicting classifications of pathogenicity

not specified
Condition: not provided
6 conditions
Osteogenesis imperfecta
Ehlers-Danlos syndrome, arthrochalasia type, 2
Ehlers-Danlos syndrome
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
Cardiovascular phenotype
7 conditions

Criteria Provided
Conflicting Classifications

CA4347868

rs_144797861

11 SubmittersRCV000413044 RCV000585259 RCV000764737 RCV001164957 RCV001164958 RCV002278645 RCV002230749 RCV002356509 RCV005033943

NM_000088.4(COL1A1):c.1354-12G>A

SNV
Germline

Chr17:50194840

Pathogenic

Condition: not provided
Osteogenesis imperfecta type I

Criteria Provided
Multiple Submitters
No Conflicts

CA16042996

rs_72648337

7 SubmittersRCV000413747 RCV000490653

NM_000088.4(COL1A1):c.804+1G>C

SNV
Germline

Chr17:50197009

Pathogenic

Blue sclerae
Osteopenia
Increased susceptibility to fractures
Osteogenesis imperfecta with normal sclerae, dominant form
Osteogenesis imperfecta type I

Criteria Provided
Multiple Submitters
No Conflicts

CA16043534

rs_1057518930

2 SubmittersRCV000415384 RCV001198517 RCV003517190

NM_022167.4(XYLT2):c.2312A>G (p.Asn771Ser)

SNV
Germline

Chr17:50360005

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta
XYLT2-related disorder

Criteria Provided
Conflicting Classifications

CA8646711

rs_199705453

4 SubmittersRCV000435769 RCV002278652 RCV003950341

NM_000478.6(ALPL):c.227A>G (p.Gln76Arg)

SNV
Germline

Chr1:21561142

Pathogenic/Likely pathogenic

Condition: not provided
Osteogenesis imperfecta
Adult hypophosphatasia
Hypophosphatasia

Criteria Provided
Multiple Submitters
No Conflicts

CA16603529

rs_1057521085

5 SubmittersRCV000418683 RCV002278676 RCV004567908 RCV005645085

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
Colon adenocarcinoma
Lung cancer
Malignant tumor of esophagus
Cervical cancer

Criteria Provided
Conflicting Classifications

CA801839

rs_114044880

6 SubmittersRCV000423443 RCV000766765 RCV001087130 RCV001097774 RCV005898046 RCV005898049 RCV005898047 RCV005898048

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

6 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

7 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 type 8
Osteogenesis Imperfecta, Recessive
Osteogenesis imperfecta

Criteria Provided
Conflicting Classifications

CA801693

rs_34809608

6 SubmittersRCV000442874 RCV001001467 RCV001099457 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

6 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

7 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

4 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

6 SubmittersRCV000422896 RCV001001469 RCV001099567 RCV002278666

NM_000089.4(COL1A2):c.304C>T (p.Pro102Ser)

SNV
Germline

Chr7:94404580

Conflicting classifications of pathogenicity

not specified
Connective tissue disorder
Condition: not provided
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
Ehlers-Danlos syndrome, arthrochalasia type, 2
Osteogenesis imperfecta
Ehlers-Danlos syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA4346618

rs_189557655

14 SubmittersRCV000440701 RCV000659368 RCV000710783 RCV001080558 RCV001159492 RCV001159491 RCV002278662 RCV002446665

NM_000089.4(COL1A2):c.407G>A (p.Gly136Asp)

SNV
Germline

Chr7:94404867

Pathogenic

Condition: not provided
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16605302

rs_1057524847

2 SubmittersRCV000430596 RCV002230081

NM_000089.4(COL1A2):c.2082C>T (p.Gly694=)

SNV
Germline

Chr7:94420235

Conflicting classifications of pathogenicity

not specified
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA4347308

rs_193229878

4 SubmittersRCV000429978 RCV001851082 RCV005630736 RCV003298454

NM_000089.4(COL1A2):c.2853T>C (p.Pro951=)

SNV
Germline

Chr7:94425767

Conflicting classifications of pathogenicity

Osteogenesis imperfecta
Ehlers-Danlos syndrome, arthrochalasia type, 2
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I
Condition: not provided
COL1A2-related disorder
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA4347584

rs_148362963

7 SubmittersRCV001161209 RCV001161210 RCV002230076 RCV001712304 RCV003959995 RCV002436346 RCV005407108

NM_000088.4(COL1A1):c.3979G>A (p.Gly1327Ser)

SNV
Germline

Chr17:50186343

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta type I
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA8644306

rs_147104425

5 SubmittersRCV000426862 RCV002056678 RCV004992218 RCV006458361

NM_000088.4(COL1A1):c.3237C>A (p.Gly1079=)

SNV
Germline

Chr17:50188120

Conflicting classifications of pathogenicity

Connective tissue disorder
Osteogenesis imperfecta type I
Condition: not provided
Ehlers-Danlos syndrome
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA8644516

rs_374853330

6 SubmittersRCV000659357 RCV001471006 RCV001698284 RCV002279205 RCV002446732 RCV004800408

NM_000088.4(COL1A1):c.2944C>A (p.Pro982Thr)

SNV
Germline

Chr17:50189004

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta type I
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA8644629

rs_141117382

7 SubmittersRCV000429625 RCV000631461 RCV002436327 RCV005404562

NM_000088.4(COL1A1):c.3106C>T (p.Arg1036Cys)

SNV
Germline

Chr17:50188631

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta type I
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA8644558

rs_72653177

3 SubmittersRCV000435717 RCV001865338 RCV004022348

NM_000088.4(COL1A1):c.1249C>T (p.Pro417Ser)

SNV
Germline

Chr17:50195282

Conflicting classifications of pathogenicity

not specified
Osteogenesis imperfecta type I
Condition: not provided
Ehlers-Danlos syndrome, arthrochalasia type
Osteogenesis imperfecta
Infantile cortical hyperostosis
Ehlers-Danlos syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA8645334

rs_72648327

7 SubmittersRCV000434641 RCV000540512 RCV000766720 RCV001125756 RCV001127851 RCV001125757 RCV002279198 RCV004609378

NM_000088.4(COL1A1):c.4339G>A (p.Val1447Ile)

SNV
Germline

Chr17:50185558

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta
Ehlers-Danlos syndrome, arthrochalasia type
Infantile cortical hyperostosis
Osteogenesis imperfecta type I

Criteria Provided
Conflicting Classifications

CA8644177

rs_367952133

3 SubmittersRCV000430536 RCV001126857 RCV001126859 RCV001126858 RCV002521553

NM_000088.4(COL1A1):c.1375C>A (p.Pro459Thr)

SNV
Germline

Chr17:50194807

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta type I
7 conditions

Criteria Provided
Conflicting Classifications

CA8645265

rs_751299130

3 SubmittersRCV000422156 RCV000631495 RCV000765371

NM_000088.4(COL1A1):c.2559T>A (p.Ile853=)

SNV
Germline

Chr17:50190001

Conflicting classifications of pathogenicity

not specified
Osteogenesis imperfecta type I

Criteria Provided
Conflicting Classifications

CA8644775

rs_764910205

2 SubmittersRCV000442408 RCV002525486

NM_000088.4(COL1A1):c.1875+8T>A

SNV
Germline

Chr17:50192789

Conflicting classifications of pathogenicity

not specified
Osteogenesis imperfecta type I
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8645053

rs_756572885

3 SubmittersRCV000423444 RCV002063629 RCV004567925

NM_000088.4(COL1A1):c.1515+6C>T

SNV
Germline

Chr17:50194567

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta type I

Criteria Provided
Conflicting Classifications

CA8645232

rs_369422507

3 SubmittersRCV001704522 RCV005090845

NM_000089.4(COL1A2):c.739G>T (p.Gly247Cys)

SNV
Germline

Chr7:94408770

Pathogenic/Likely pathogenic

Condition: not provided
Osteogenesis imperfecta
COL1A2-related disorder
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16618573

rs_1064794058

4 SubmittersRCV000478737 RCV001260277 RCV004545772 RCV005222957

NM_000089.4(COL1A2):c.1054G>A (p.Gly352Ser)

SNV
Germline

Chr7:94410260

Pathogenic/Likely pathogenic

Condition: not provided
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Multiple Submitters
No Conflicts

CA16618574

rs_1064796419

3 SubmittersRCV000486920 RCV003766718

NM_000089.4(COL1A2):c.2314G>A (p.Gly772Ser)

SNV
Germline

Chr7:94421027

Pathogenic/Likely pathogenic

Condition: not provided
Osteogenesis imperfecta with normal sclerae, dominant form
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta
Ehlers-Danlos syndrome, arthrochalasia type, 2

Criteria Provided
Multiple Submitters
No Conflicts

CA16618576

rs_72658185

9 SubmittersRCV000481739 RCV002244949 RCV002230922 RCV002279242 RCV003988847

NM_000088.4(COL1A1):c.3196C>T (p.Arg1066Cys)

SNV
Germline

Chr17:50188541

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta type I
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA8644546

rs_72654799

7 SubmittersRCV000485287 RCV000794277 RCV001270299 RCV002323823 RCV005056048

NM_000088.4(COL1A1):c.3065G>T (p.Gly1022Val)

SNV
Germline

Chr17:50188776

Pathogenic/Likely pathogenic

Condition: not provided
Osteogenesis imperfecta
Osteogenesis imperfecta type I
Osteogenesis imperfecta, perinatal lethal

Criteria Provided
Multiple Submitters
No Conflicts

CA16620475

rs_67771061

6 SubmittersRCV000478094 RCV002279243 RCV003333748 RCV006454678

NM_000088.4(COL1A1):c.1691G>A (p.Arg564His)

SNV
Germline

Chr17:50194019

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type I
Infantile cortical hyperostosis
Osteogenesis imperfecta
Ehlers-Danlos syndrome, arthrochalasia type
Condition: not provided
Ehlers-Danlos syndrome
Cardiovascular phenotype
COL1A1-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA8645135

rs_1800211

12 SubmittersRCV000659352 RCV001125672 RCV001125674 RCV001125673 RCV001508818 RCV002279235 RCV002413314 RCV004737549 RCV005239063

NM_000088.4(COL1A1):c.768C>T (p.Pro256=)

SNV
Germline

Chr17:50197046

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta type I
Cardiovascular phenotype
Osteogenesis imperfecta

Criteria Provided
Conflicting Classifications

CA8645556

rs_199891984

5 SubmittersRCV000488066 RCV002056811 RCV002404277 RCV002279251

NM_000089.4(COL1A2):c.540+8C>T

SNV
Germline

Chr7:94405734

Conflicting classifications of pathogenicity

Condition: not provided
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Conflicting Classifications

CA16621856

rs_1064797337

2 SubmittersRCV000487607 RCV003766736

NM_000089.4(COL1A2):c.326G>A (p.Gly109Asp)

SNV
Germline

Chr7:94404694

Pathogenic/Likely pathogenic

Osteogenesis imperfecta type I
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA368219522

rs_1114167416

5 SubmittersRCV000490674 RCV001270303 RCV002446951 RCV004701539

NM_000089.4(COL1A2):c.793G>C (p.Gly265Arg)

SNV
Germline

Chr7:94409322

Pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA368220540

rs_1114167417

2 SubmittersRCV000490663 RCV002527011

NM_000089.4(COL1A2):c.794G>A (p.Gly265Asp)

SNV
Germline

Chr7:94409323

Pathogenic

Osteogenesis imperfecta with normal sclerae, dominant form
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA162919498

rs_72656386

2 SubmittersRCV000490709 RCV001851298

NM_000089.4(COL1A2):c.856G>A (p.Gly286Ser)

SNV
Germline

Chr7:94409385

Pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA368220655

rs_1114167418

3 SubmittersRCV000490758 RCV003766738 RCV005429248

NM_000089.4(COL1A2):c.874G>A (p.Gly292Ser)

SNV
Germline

Chr7:94409403

Pathogenic

Osteogenesis imperfecta with normal sclerae, dominant form
Condition: not provided
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I
Osteogenesis imperfecta, perinatal lethal

Criteria Provided
Multiple Submitters
No Conflicts

CA162919734

rs_906553840

5 SubmittersRCV000490666 RCV002244956 RCV002230967 RCV002289658

NM_000089.4(COL1A2):c.992G>A (p.Gly331Asp)

SNV
Unknown

Chr7:94409778

Pathogenic

Osteogenesis imperfecta type III

No Assertion Criteria Provided

CA162920336

rs_67729041

1 SubmittersRCV000490716

NM_000089.4(COL1A2):c.1009G>A (p.Gly337Ser)

SNV
Germline

Chr7:94409795

Pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type
Osteogenesis imperfecta type III
Osteogenesis imperfecta with normal sclerae, dominant form
Osteogenesis imperfecta type III
Condition: not provided
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta
Ehlers-Danlos syndrome
Ehlers-Danlos syndrome, arthrochalasia type, 2
COL1A2-related disorder
Osteogenesis imperfecta with normal sclerae, dominant form

Criteria Provided
Multiple Submitters
No Conflicts

CA162920380

rs_67865220

16 SubmittersRCV000490720 RCV000987924 RCV000993573 RCV001250519 RCV001553203 RCV002230964 RCV002279258 RCV003987562 RCV003989538 RCV004535542 RCV005627100

NM_000089.4(COL1A2):c.1162G>C (p.Gly388Arg)

SNV
Unknown

Chr7:94410492

Pathogenic

Osteogenesis imperfecta type III

No Assertion Criteria Provided

CA368221282

rs_1114167412

1 SubmittersRCV000490763

NM_000089.4(COL1A2):c.1171G>A (p.Gly391Ser)

SNV
Germline

Chr7:94410501

Pathogenic/Likely pathogenic

Osteogenesis imperfecta with normal sclerae, dominant form
Condition: not provided
Dentinogenesis imperfecta
Osteogenesis imperfecta
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
COL1A2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA162921172

rs_67707918

6 SubmittersRCV000490690 RCV001575452 RCV001778978 RCV002279259 RCV002230965 RCV004742449

NM_000089.4(COL1A2):c.1197+5G>A

SNV
Germline

Chr7:94410532

Pathogenic

Osteogenesis imperfecta type I
Condition: not provided
Osteogenesis imperfecta with normal sclerae, dominant form
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I
Osteogenesis imperfecta, perinatal lethal

Criteria Provided
Multiple Submitters
No Conflicts

CA162921230

rs_68132885

6 SubmittersRCV000490711 RCV000598859 RCV002227169 RCV003766737 RCV004777683

NM_000089.4(COL1A2):c.1406G>C (p.Gly469Ala)

SNV
Germline

Chr7:94412585

Pathogenic/Likely pathogenic

Osteogenesis imperfecta with normal sclerae, dominant form
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA162925041

rs_72658119

4 SubmittersRCV000490679 RCV005222965 RCV005630744

NM_000089.4(COL1A2):c.1801G>A (p.Gly601Ser)

SNV
Germline

Chr7:94416441

Pathogenic

Osteogenesis imperfecta type I
Condition: not provided
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta
Osteogenesis imperfecta, perinatal lethal
Osteogenesis imperfecta with normal sclerae, dominant form

Criteria Provided
Multiple Submitters
No Conflicts

CA162929069

rs_72658143

9 SubmittersRCV000490730 RCV000594712 RCV002230966 RCV001849383 RCV003139688 RCV003152709

NM_000089.4(COL1A2):c.1937G>T (p.Gly646Val)

SNV
Germline

Chr7:94417797

Pathogenic/Likely pathogenic

Osteogenesis imperfecta type III
Osteogenesis imperfecta
7 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA162930336

rs_72658150

3 SubmittersRCV000490755 RCV002279260 RCV002481546

NM_000089.4(COL1A2):c.2835+1G>A

SNV
Germline

Chr7:94425664

Pathogenic

Osteogenesis imperfecta with normal sclerae, dominant form
Osteogenesis imperfecta type I
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
See cases

Criteria Provided
Multiple Submitters
No Conflicts

CA162939788

rs_72659310

4 SubmittersRCV000490660 RCV000490726 RCV002231121 RCV003155210

NM_000089.4(COL1A2):c.2918G>T (p.Gly973Val)

SNV
Germline

Chr7:94425832

Pathogenic

Osteogenesis imperfecta type III
Osteogenesis imperfecta

Criteria Provided
Single Submitter

CA162939988

rs_67609234

2 SubmittersRCV000490699 RCV005235355

NM_000089.4(COL1A2):c.3008G>A (p.Gly1003Asp)

SNV
Unknown

Chr7:94426433

Pathogenic

Osteogenesis imperfecta type III

No Assertion Criteria Provided

CA368225079

rs_1114167414

1 SubmittersRCV000490732

NM_000089.4(COL1A2):c.3089G>C (p.Gly1030Ala)

SNV
Unknown

Chr7:94426514

Pathogenic

Osteogenesis imperfecta type III

No Assertion Criteria Provided

CA368225247

rs_1114167415

1 SubmittersRCV000490704

NM_000089.4(COL1A2):c.3106G>C (p.Gly1036Arg)

SNV
Germline

Chr7:94427008

Pathogenic

Osteogenesis imperfecta with normal sclerae, dominant form
Short fetal femur length
See cases
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Single Submitter

CA162940630

rs_72659325

4 SubmittersRCV000490746 RCV002264701 RCV003155211 RCV006556072

NM_000089.4(COL1A2):c.3304G>T (p.Gly1102Cys)

SNV
Unknown

Chr7:94427663

Pathogenic

Osteogenesis imperfecta type I

No Assertion Criteria Provided

CA368225687

rs_67768540

1 SubmittersRCV000490701

NM_000088.4(COL1A1):c.4292C>T (p.Thr1431Ile)

SNV
Germline

Chr17:50185605

Pathogenic

Osteogenesis imperfecta with normal sclerae, dominant form
Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400190590

rs_1114167403

2 SubmittersRCV000490689 RCV003517203

NM_000088.4(COL1A1):c.3897C>G (p.Cys1299Trp)

SNV
Germline

Chr17:50186425

Pathogenic

Osteogenesis imperfecta with normal sclerae, dominant form
COL1A1-related disorder
Osteogenesis imperfecta type I

Criteria Provided
Multiple Submitters
No Conflicts

CA291542851

rs_34940368

3 SubmittersRCV000490717 RCV004551603 RCV005090986

NM_000088.4(COL1A1):c.3815G>T (p.Gly1272Val)

SNV
Germline

Chr17:50186507

Pathogenic/Likely pathogenic

Osteogenesis imperfecta with normal sclerae, dominant form
Osteogenesis imperfecta type I
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA400194038

rs_1114167402

3 SubmittersRCV000490692 RCV000490761 RCV002272256

NM_000088.4(COL1A1):c.3790A>G (p.Met1264Val)

SNV
Germline

Chr17:50186664

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA291542868

rs_72656340

2 SubmittersRCV000490719

NM_000088.4(COL1A1):c.3655G>A (p.Asp1219Asn)

SNV
Unknown

Chr17:50186799

Pathogenic

Osteogenesis imperfecta with normal sclerae, dominant form

No Assertion Criteria Provided

CA291542879

rs_72656338

1 SubmittersRCV000490710

NM_000088.4(COL1A1):c.3607C>T (p.Gln1203Ter)

SNV
Germline

Chr17:50186847

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400197968

rs_1114167399

2 SubmittersRCV000490662

NM_000088.4(COL1A1):c.3505G>A (p.Gly1169Ser)

SNV
Germline

Chr17:50187041

Pathogenic/Likely pathogenic

Osteogenesis imperfecta type I
Osteogenesis imperfecta
Condition: not provided
Abnormality of the skeletal system
Infantile cortical hyperostosis

Criteria Provided
Multiple Submitters
No Conflicts

CA291542908

rs_67815019

13 SubmittersRCV000490739 RCV000586484 RCV000755941 RCV001814161 RCV002281097

NM_000088.4(COL1A1):c.3226G>A (p.Gly1076Ser)

SNV
Germline

Chr17:50188131

Pathogenic/Likely pathogenic

Osteogenesis imperfecta type III
Condition: not provided
Osteogenesis imperfecta type I
Osteogenesis imperfecta with normal sclerae, dominant form
COL1A1-related disorder
8 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA291543018

rs_67394386

11 SubmittersRCV000490696 RCV000596247 RCV001037391 RCV001330770 RCV004551602 RCV004796194

NM_000088.4(COL1A1):c.3045+1G>A

SNV
Germline

Chr17:50188902

Pathogenic

Osteogenesis imperfecta type I
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA400203553

rs_1114167382

4 SubmittersRCV000490672 RCV002291645

NM_000088.4(COL1A1):c.2668-1G>A

SNV
Germline

Chr17:50189539

Pathogenic

Osteogenesis imperfecta type I
Condition: not provided

Criteria Provided
Single Submitter

CA400206119

rs_1114167394

2 SubmittersRCV000490735 RCV004719835

NM_000088.4(COL1A1):c.2596G>A (p.Gly866Ser)

SNV
Germline

Chr17:50189876

Pathogenic

Osteogenesis imperfecta type III
Osteogenesis imperfecta type I
Condition: not provided
See cases

Criteria Provided
Multiple Submitters
No Conflicts

CA291543260

rs_67445413

9 SubmittersRCV000490749 RCV001213033 RCV001577310 RCV003128405

NM_000088.4(COL1A1):c.2461G>A (p.Gly821Ser)

SNV
Germline

Chr17:50190099

Pathogenic

Osteogenesis imperfecta with normal sclerae, dominant form
Osteogenesis imperfecta type I
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA291543310

rs_67693970

7 SubmittersRCV000490757 RCV000548232 RCV001572316

NM_000088.4(COL1A1):c.2343+1G>A

SNV
Germline

Chr17:50190816

Pathogenic/Likely pathogenic

Osteogenesis imperfecta type I
8 conditions
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA400209743

rs_1114167378

6 SubmittersRCV000490722 RCV002475958 RCV005630742

NM_000088.4(COL1A1):c.2335G>A (p.Gly779Ser)

SNV
Unknown

Chr17:50190825

Pathogenic

Osteogenesis imperfecta with normal sclerae, dominant form

No Assertion Criteria Provided

CA291543881

rs_72651661

1 SubmittersRCV000490668

NM_000088.4(COL1A1):c.2235+1G>A

SNV
Unknown

Chr17:50191382

Pathogenic

Osteogenesis imperfecta type III

No Assertion Criteria Provided

CA400210712

rs_1114167390

1 SubmittersRCV000490759

NM_000088.4(COL1A1):c.2155G>A (p.Gly719Ser)

SNV
Germline

Chr17:50191463

Pathogenic

Osteogenesis imperfecta type III
Condition: not provided
Osteogenesis imperfecta type I
Osteogenesis imperfecta with normal sclerae, dominant form
8 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA291543986

rs_72651645

9 SubmittersRCV000490715 RCV001584200 RCV001245339 RCV005420206 RCV005018820

NM_000088.4(COL1A1):c.2075G>C (p.Gly692Ala)

SNV
Unknown

Chr17:50191840

Pathogenic

Osteogenesis imperfecta type III

No Assertion Criteria Provided

CA400211829

rs_1114167388

1 SubmittersRCV000490745

NM_000088.4(COL1A1):c.1821+1G>A

SNV
Germline

Chr17:50192993

Pathogenic

Osteogenesis imperfecta type I
Condition: not provided
7 conditions
Osteogenesis imperfecta
Cardiovascular phenotype
COL1A1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA291544536

rs_66555264

14 SubmittersRCV000490727 RCV000599354 RCV000763410 RCV002221545 RCV004992266 RCV004551601

NM_000088.4(COL1A1):c.1792C>T (p.Arg598Ter)

SNV
Germline

Chr17:50193023

Pathogenic

Osteogenesis imperfecta type I
Condition: not provided
Osteogenesis imperfecta with normal sclerae, dominant form
Osteogenesis imperfecta

Criteria Provided
Multiple Submitters
No Conflicts

CA8645100

rs_72651614

9 SubmittersRCV000490706 RCV001555740 RCV002283484 RCV002279255

NM_000088.4(COL1A1):c.1299+1G>A

SNV
Germline

Chr17:50195231

Pathogenic

Osteogenesis imperfecta type I
7 conditions
Condition: not provided
COL1A1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA291546594

rs_66490707

9 SubmittersRCV000490723 RCV000763411 RCV001527971 RCV004737558

NM_000088.4(COL1A1):c.1243C>T (p.Arg415Ter)

SNV
Germline

Chr17:50195288

Pathogenic

Osteogenesis imperfecta type I
Condition: not provided
Infantile cortical hyperostosis
8 conditions
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1
Osteogenesis imperfecta, perinatal lethal
6 conditions
COL1A1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA291546646

rs_72648326

15 SubmittersRCV000490754 RCV000516899 RCV001262344 RCV002475959 RCV003313958 RCV004760530 RCV004796193 RCV004722824

NM_000088.4(COL1A1):c.1201G>A (p.Gly401Ser)

SNV
Germline

Chr17:50195330

Pathogenic

Osteogenesis imperfecta with normal sclerae, dominant form
Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400218987

rs_72648322

2 SubmittersRCV000490729 RCV002527010

NM_000088.4(COL1A1):c.1081C>T (p.Arg361Ter)

SNV
Germline

Chr17:50195641

Pathogenic

Osteogenesis imperfecta type I
Osteogenesis imperfecta, perinatal lethal
Condition: not provided
Osteogenesis imperfecta
Osteogenesis imperfecta with normal sclerae, dominant form
COL1A1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA291546898

rs_72645366

10 SubmittersRCV000490713 RCV001542693 RCV001584199 RCV002279254 RCV004596228 RCV004737557

NM_000088.4(COL1A1):c.1057G>A (p.Gly353Ser)

SNV
Germline

Chr17:50195665

Pathogenic

Osteogenesis imperfecta with normal sclerae, dominant form
Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA291546912

rs_66721653

2 SubmittersRCV000490671 RCV005090985

NM_000088.4(COL1A1):c.1002+2T>C

SNV
Germline

Chr17:50196153

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400221190

rs_786205507

2 SubmittersRCV000490762

NM_000088.4(COL1A1):c.977G>A (p.Gly326Asp)

SNV
Germline

Chr17:50196180

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA291547133

rs_72645356

2 SubmittersRCV000490742

NM_000088.4(COL1A1):c.851G>C (p.Gly284Ala)

SNV
Germline

Chr17:50196624

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA291547382

rs_72645337

2 SubmittersRCV000490675

NM_000088.4(COL1A1):c.841G>A (p.Gly281Ser)

SNV
Germline

Chr17:50196634

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA291547390

rs_72645334

2 SubmittersRCV000490718

NM_000088.4(COL1A1):c.769G>A (p.Gly257Arg)

SNV
Germline

Chr17:50197045

Pathogenic

Osteogenesis imperfecta type I
Condition: not provided
Osteogenesis imperfecta
8 conditions
COL1A1-related disorder
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA291547584

rs_72645321

14 SubmittersRCV000490740 RCV000520145 RCV002279257 RCV002489188 RCV004551605 RCV004801922

NM_000088.4(COL1A1):c.752G>A (p.Gly251Asp)

SNV
Unknown

Chr17:50197062

Pathogenic

Osteogenesis imperfecta type I

No Assertion Criteria Provided

CA400223989

rs_1114167410

1 SubmittersRCV000490695

NM_000088.4(COL1A1):c.658C>T (p.Arg220Ter)

SNV
Germline

Chr17:50197770

Pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, arthrochalasia type, 2
Condition: not provided
Osteogenesis imperfecta
Stickler syndrome type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA291547917

rs_72667036

9 SubmittersRCV000490652 RCV001003534 RCV001552353 RCV002279256 RCV004767298

NM_000088.4(COL1A1):c.589G>T (p.Gly197Cys)

SNV
Germline

Chr17:50198002

Pathogenic

Osteogenesis imperfecta type I
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA291548135

rs_8179178

3 SubmittersRCV000490693 RCV001269743

NM_000088.4(COL1A1):c.563G>A (p.Gly188Asp)

SNV
Germline

Chr17:50198186

Pathogenic/Likely pathogenic

Osteogenesis imperfecta type I
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA400225653

rs_1114167408

4 SubmittersRCV000490656 RCV001270300 RCV002350082

NM_000088.4(COL1A1):c.333+2T>C

SNV
Germline

Chr17:50199554

Pathogenic

Osteogenesis imperfecta type I

No Assertion Criteria Provided

CA291550704

rs_72667012

1 SubmittersRCV000490703

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

8 SubmittersRCV000489750 RCV000538652 RCV001097772 RCV005407150

NM_000089.4(COL1A2):c.2891G>A (p.Gly964Asp)

SNV
Germline

Chr7:94425805

Pathogenic/Likely pathogenic

Condition: not provided
Osteogenesis imperfecta, perinatal lethal

Criteria Provided
Multiple Submitters
No Conflicts

CA368224831

rs_1085307707

2 SubmittersRCV000490098 RCV006454680

NM_002615.7(SERPINF1):c.295C>T (p.Arg99Ter)

SNV
Germline

Chr17:1771040

Pathogenic

Condition: not provided
Osteogenesis imperfecta
Osteogenesis imperfecta type 6

Criteria Provided
Multiple Submitters
No Conflicts

CA397584444

rs_1085307634

5 SubmittersRCV000489314 RCV004782399 RCV005010404

NM_000088.4(COL1A1):c.3680G>A (p.Arg1227His)

SNV
Germline

Chr17:50186774

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type I
Condition: not provided
Cardiovascular phenotype
not specified
COL1A1-related disorder

Criteria Provided
Conflicting Classifications

CA8644376

rs_543809032

6 SubmittersRCV000526752 RCV001712452 RCV002455947 RCV003488631 RCV004551617

NM_000478.6(ALPL):c.283G>A (p.Val95Met)

SNV
Germline

Chr1:21561198

Conflicting classifications of pathogenicity

Decreased circulating alkaline phosphatase activity
Condition: not provided
Hypophosphatasia
Adult hypophosphatasia
Childhood hypophosphatasia
Infantile hypophosphatasia
Childhood hypophosphatasia
Osteogenesis imperfecta
Adult hypophosphatasia
Infantile hypophosphatasia

Criteria Provided
Conflicting Classifications

CA666442

rs_139811782

10 SubmittersRCV000490714 RCV001067182 RCV001273158 RCV001535923 RCV001580504 RCV002279265 RCV003470594 RCV004568606

NM_006371.5(CRTAP):c.451C>G (p.Leu151Val)

SNV
Germline

Chr3:33114528

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta type 7
Osteogenesis imperfecta
Malignant tumor of urinary bladder

Criteria Provided
Conflicting Classifications

CA2300277

rs_202118861

10 SubmittersRCV000494644 RCV000533870 RCV002279269 RCV005899785

NM_000089.4(COL1A2):c.875G>T (p.Gly292Val)

SNV
Germline

Chr7:94409404

Pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA368220688

rs_1131692167

2 SubmittersRCV000495171 RCV003766785

NM_000088.4(COL1A1):c.2641G>A (p.Gly881Ser)

SNV
Germline

Chr17:50189705

Pathogenic

Osteogenesis imperfecta type I
Condition: not provided

Criteria Provided
Single Submitter

CA8644716

rs_765659555

2 SubmittersRCV000495593 RCV004722835

NM_000088.4(COL1A1):c.4328C>T (p.Ala1443Val)

SNV
Germline

Chr17:50185569

Pathogenic/Likely pathogenic

Osteogenesis imperfecta type I
COL1A1-related disorder
Osteogenesis imperfecta with normal sclerae, dominant form

Criteria Provided
Multiple Submitters
No Conflicts

CA400190313

rs_1131692326

5 SubmittersRCV000496049 RCV004737564 RCV005627101

NM_000088.4(COL1A1):c.3443G>A (p.Gly1148Asp)

SNV
Unknown

Chr17:50187103

Pathogenic

Osteogenesis imperfecta type III

Criteria Provided
Single Submitter

CA400198947

rs_1131692320

1 SubmittersRCV000496033

NM_000088.4(COL1A1):c.1247G>A (p.Gly416Asp)

SNV
Germline

Chr17:50195284

Pathogenic

Osteogenesis imperfecta type I
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA400218794

rs_1135401953

2 SubmittersRCV000496233 RCV000520103

NM_000089.4(COL1A2):c.2425C>T (p.Pro809Ser)

SNV
Germline

Chr7:94422978

Conflicting classifications of pathogenicity

Condition: not provided
Connective tissue disorder
Predisposition to dissection
Osteogenesis imperfecta
Ehlers-Danlos syndrome, arthrochalasia type, 2
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA4347447

rs_145355907

13 SubmittersRCV000497839 RCV000680488 RCV000791269 RCV001164727 RCV001164726 RCV002231166 RCV002446967 RCV003114623

NM_000088.4(COL1A1):c.3865G>C (p.Val1289Leu)

SNV
Germline

Chr17:50186457

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta type I

Criteria Provided
Conflicting Classifications

CA8644327

rs_780472683

2 SubmittersRCV000497837 RCV002527161

NM_000088.4(COL1A1):c.3094G>A (p.Ala1032Thr)

SNV
Germline

Chr17:50188747

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA8644580

rs_374095521

5 SubmittersRCV000497329 RCV000631498 RCV002279279 RCV004992283

NM_000088.4(COL1A1):c.1929+1G>A

SNV
Germline

Chr17:50192639

Pathogenic

Osteogenesis imperfecta type I

No Assertion Criteria Provided

CA400213575

rs_1555573313

1 SubmittersRCV000505628

NM_000089.4(COL1A2):c.767G>T (p.Gly256Val)

SNV
Germline

Chr7:94408798

Pathogenic

Condition: not provided
Osteogenesis imperfecta, perinatal lethal
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta with normal sclerae, dominant form
Ehlers-Danlos syndrome, arthrochalasia type, 2

Criteria Provided
Multiple Submitters
No Conflicts

CA162918982

rs_67525025

6 SubmittersRCV000507846 RCV001542469 RCV002231188 RCV005627102 RCV005860093

NM_006371.5(CRTAP):c.1039C>T (p.Leu347Phe)

SNV
Germline

Chr3:33132671

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Osteogenesis imperfecta type 7
Osteogenesis imperfecta
CRTAP-related disorder

Criteria Provided
Conflicting Classifications

CA2300475

rs_115198029

9 SubmittersRCV000506973 RCV000766891 RCV000999850 RCV002279286 RCV003935325

NM_021939.4(FKBP10):c.829C>G (p.Pro277Ala)

SNV
Germline

Chr17:41819311

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Osteogenesis imperfecta
FKBP10-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8566376

rs_138089753

7 SubmittersRCV000506032 RCV001865658 RCV002279288 RCV004748794 RCV005841586

NM_001235.5(SERPINH1):c.565A>G (p.Thr189Ala)

SNV
Germline

Chr11:75566914

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta type 10

Criteria Provided
Conflicting Classifications

CA6190840

rs_138784081

4 SubmittersRCV000506069 RCV001113293

NM_000088.4(COL1A1):c.4005+5G>A

SNV
Germline

Chr17:50186312

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta type I
not specified
Ehlers-Danlos syndrome
Cardiovascular phenotype
8 conditions
Clear cell carcinoma of kidney

Criteria Provided
Conflicting Classifications

CA8644297

rs_778417218

10 SubmittersRCV000513599 RCV000631475 RCV001001319 RCV002279299 RCV002376949 RCV002496974 RCV005900984

NM_000089.4(COL1A2):c.956G>A (p.Gly319Glu)

SNV
Germline

Chr7:94409742

Pathogenic

Condition: not provided
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Multiple Submitters
No Conflicts

CA368220866

rs_1554396083

2 SubmittersRCV000518754 RCV002231000

NM_000089.4(COL1A2):c.2296G>A (p.Gly766Ser)

SNV
Germline

Chr7:94421009

Pathogenic

Condition: not provided
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Multiple Submitters
No Conflicts

CA162936464

rs_72658182

2 SubmittersRCV000517302 RCV003766918

NM_000088.4(COL1A1):c.2362G>A (p.Gly788Ser)

SNV
Germline

Chr17:50190578

Pathogenic

Condition: not provided
Osteogenesis imperfecta type I
7 conditions
COL1A1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA291543403

rs_67879854

7 SubmittersRCV000516519 RCV000707194 RCV000763408 RCV004553128

NM_000088.4(COL1A1):c.1121G>C (p.Gly374Ala)

SNV
Germline

Chr17:50195601

Pathogenic

Condition: not provided
Osteogenesis imperfecta type I

Criteria Provided
Multiple Submitters
No Conflicts

CA400219747

rs_1555574143

3 SubmittersRCV000518629 RCV003517215

NM_000088.4(COL1A1):c.1013G>T (p.Gly338Val)

SNV
Germline

Chr17:50195966

Likely pathogenic

Condition: not provided
Osteogenesis imperfecta, perinatal lethal

Criteria Provided
Single Submitter

CA400221060

rs_1555574249

2 SubmittersRCV000517817 RCV002264705

NM_000088.4(COL1A1):c.299-15C>T

SNV
Germline

Chr17:50199605

Conflicting classifications of pathogenicity

not specified
Ehlers-Danlos syndrome, arthrochalasia type
Osteogenesis imperfecta
Infantile cortical hyperostosis
Osteogenesis imperfecta type I
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8645765

rs_199523510

6 SubmittersRCV000516192 RCV001125941 RCV001125942 RCV001125940 RCV002060235 RCV003419892

NM_000089.4(COL1A2):c.432+1G>A

SNV
Germline

Chr7:94404893

Pathogenic/Likely pathogenic

Condition: not provided
Inborn genetic diseases
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA368219747

rs_1554395431

3 SubmittersRCV000521677 RCV000624372 RCV002231211

NM_000089.4(COL1A2):c.874G>C (p.Gly292Arg)

SNV
Germline

Chr7:94409403

Pathogenic

Condition: not provided
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA368220686

rs_906553840

2 SubmittersRCV000523423 RCV001858003

NM_000089.4(COL1A2):c.1109G>T (p.Gly370Val)

SNV
Germline

Chr7:94410439

Pathogenic

Condition: not provided
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA368221175

rs_72658104

2 SubmittersRCV000522795 RCV002525213

NM_000089.4(COL1A2):c.2387G>C (p.Gly796Ala)

SNV
Germline

Chr7:94421936

Pathogenic

Condition: not provided
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA162937261

rs_72658189

2 SubmittersRCV000519428 RCV002231208

NM_000088.4(COL1A1):c.4245C>A (p.Cys1415Ter)

SNV
Germline

Chr17:50185781

Pathogenic/Likely pathogenic

Condition: not provided
Osteogenesis imperfecta, perinatal lethal

Criteria Provided
Multiple Submitters
No Conflicts

CA400191169

rs_1555571589

2 SubmittersRCV000519918 RCV006454686

NM_000088.4(COL1A1):c.4196G>A (p.Arg1399His)

SNV
Germline

Chr17:50185830

Conflicting classifications of pathogenicity

Condition: not provided
7 conditions
Osteogenesis imperfecta type I
Cardiovascular phenotype
8 conditions

Criteria Provided
Conflicting Classifications

CA8644235

rs_146035171

5 SubmittersRCV000521165 RCV000765368 RCV000792484 RCV002329239 RCV005027609

NM_000088.4(COL1A1):c.1462G>A (p.Gly488Ser)

SNV
Germline

Chr17:50194626

Pathogenic/Likely pathogenic

Condition: not provided
Osteogenesis imperfecta type I
Osteogenesis imperfecta with normal sclerae, dominant form

Criteria Provided
Multiple Submitters
No Conflicts

CA400217541

rs_1328384458

3 SubmittersRCV000521607 RCV000547846 RCV005627103

NM_000088.4(COL1A1):c.1414C>T (p.Arg472Ter)

SNV
Germline

Chr17:50194768

Pathogenic

Condition: not provided
Osteogenesis imperfecta type I
Osteogenesis imperfecta, perinatal lethal
COL1A1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA291545471

rs_72648343

8 SubmittersRCV000523564 RCV000803118 RCV004767322 RCV005869580

NM_000088.4(COL1A1):c.751-1G>A

SNV
Germline

Chr17:50197064

Pathogenic

Condition: not provided
Osteogenesis imperfecta type I

Criteria Provided
Multiple Submitters
No Conflicts

CA400224003

rs_1555574516

2 SubmittersRCV000519996 RCV000631493

NM_000088.4(COL1A1):c.671G>T (p.Gly224Val)

SNV
Germline

Chr17:50197757

Pathogenic

Condition: not provided
Osteogenesis imperfecta type I

Criteria Provided
Multiple Submitters
No Conflicts

CA400224671

rs_1555574641

2 SubmittersRCV000522435 RCV000532521

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

6 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
Condition: not provided

Criteria Provided
Conflicting Classifications

CA802094

rs_149113630

4 SubmittersRCV000532202 RCV000605499 RCV001096110 RCV006447371

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
Ovarian serous cystadenocarcinoma

Criteria Provided
Conflicting Classifications

CA801637

rs_3738497

4 SubmittersRCV000547688 RCV001099454 RCV001539895 RCV005896847

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

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

Criteria Provided
Conflicting Classifications

CA802142

rs_77208721

7 SubmittersRCV000610522 RCV000999909 RCV001096112 RCV001573726 RCV002279355

NM_006371.5(CRTAP):c.444C>G (p.Tyr148Ter)

SNV
Germline

Chr3:33114521

Pathogenic/Likely pathogenic

Osteogenesis imperfecta type 7

Criteria Provided
Multiple Submitters
No Conflicts

CA72699803

rs_972668240

2 SubmittersRCV000534680

NM_006371.5(CRTAP):c.456G>C (p.Gln152His)

SNV
Germline

Chr3:33114533

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type 7
Inborn genetic diseases
CRTAP-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2300279

rs_779447329

5 SubmittersRCV000548675 RCV002525305 RCV004754464 RCV006250801

NM_006371.5(CRTAP):c.654C>T (p.Asn218=)

SNV
Germline

Chr3:33124440

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type 7
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2300353

rs_144486582

4 SubmittersRCV000526157 RCV000607982 RCV005641678

NM_006371.5(CRTAP):c.655G>A (p.Gly219Ser)

SNV
Germline

Chr3:33124441

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type 7

Criteria Provided
Conflicting Classifications

CA2300355

rs_145048208

2 SubmittersRCV000540867

NM_000089.4(COL1A2):c.1514G>C (p.Gly505Ala)

SNV
Germline

Chr7:94413093

Likely pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Single Submitter

CA368222011

rs_1554396680

1 SubmittersRCV002231229

NM_000089.4(COL1A2):c.1748G>C (p.Gly583Ala)

SNV
Germline

Chr7:94415254

Pathogenic/Likely pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA368222519

rs_1554396983

2 SubmittersRCV002231231 RCV005632458

NM_000089.4(COL1A2):c.2756G>A (p.Gly919Asp)

SNV
Germline

Chr7:94425199

Pathogenic

Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA368224545

rs_1554398261

1 SubmittersRCV002231239

NM_000089.4(COL1A2):c.3209A>C (p.His1070Pro)

SNV
Germline

Chr7:94427237

Conflicting classifications of pathogenicity

Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA4347701

rs_767399660

4 SubmittersRCV002231240 RCV001560740 RCV005801821

NM_000089.4(COL1A2):c.3673C>T (p.His1225Tyr)

SNV
Germline

Chr7:94428439

Conflicting classifications of pathogenicity

Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA4347811

rs_535142482

3 SubmittersRCV002231019 RCV004586766 RCV005532684

NM_000089.4(COL1A2):c.389G>A (p.Gly130Asp)

SNV
Germline

Chr7:94404849

Pathogenic

Condition: not provided
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Multiple Submitters
No Conflicts

CA162914426

rs_72656360

4 SubmittersRCV000991603 RCV002231244

NM_000089.4(COL1A2):c.1477G>C (p.Gly493Arg)

SNV
Germline

Chr7:94412656

Likely pathogenic

Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA368221924

rs_1554396612

1 SubmittersRCV002231009

NM_000089.4(COL1A2):c.1513G>A (p.Gly505Ser)

SNV
Germline

Chr7:94413092

Pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Multiple Submitters
No Conflicts

CA368222009

rs_1554396679

2 SubmittersRCV002231010 RCV005627104

NM_000089.4(COL1A2):c.2565+1G>A

SNV
Germline

Chr7:94423119

Pathogenic

Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA162938093

rs_72658198

2 SubmittersRCV002231014 RCV005630746

NM_000089.4(COL1A2):c.2719G>A (p.Gly907Ser)

SNV
Germline

Chr7:94425162

Pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Single Submitter

CA368224473

rs_1554398251

1 SubmittersRCV002231237

NM_000089.4(COL1A2):c.3260G>T (p.Gly1087Val)

SNV
Germline

Chr7:94427288

Likely pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Single Submitter

CA368225599

rs_72659335

1 SubmittersRCV002231241

NM_000089.4(COL1A2):c.279G>A (p.Met93Ile)

SNV
Germline

Chr7:94401620

Pathogenic

Ehlers-Danlos syndrome, arthrochalasia type, 2
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Single Submitter

CA162908568

rs_72656356

2 SubmittersRCV000018774 RCV002231016

NM_000089.4(COL1A2):c.334G>A (p.Gly112Ser)

SNV
Germline

Chr7:94404702

Likely pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Single Submitter

CA368219538

rs_1554395411

1 SubmittersRCV002231242

NM_000089.4(COL1A2):c.946G>A (p.Gly316Ser)

SNV
Germline

Chr7:94409732

Pathogenic/Likely pathogenic

Osteogenesis imperfecta, perinatal lethal
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I
Osteogenesis imperfecta
Osteogenesis imperfecta type I
Osteogenesis imperfecta with normal sclerae, dominant form

Criteria Provided
Multiple Submitters
No Conflicts

CA368220848

rs_72656392

5 SubmittersRCV001375860 RCV002231026 RCV001813787 RCV004596238 RCV005627105

NM_000089.4(COL1A2):c.982G>A (p.Gly328Ser)

SNV
Germline

Chr7:94409768

Pathogenic

6 conditions
Osteogenesis imperfecta with normal sclerae, dominant form
Ehlers-Danlos syndrome, cardiac valvular type
Condition: not provided
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I
Osteogenesis imperfecta
COL1A2-related disorder
Osteogenesis imperfecta with normal sclerae, dominant form
Osteogenesis imperfecta, perinatal lethal
Osteogenesis imperfecta type III

Criteria Provided
Multiple Submitters
No Conflicts

CA162920322

rs_66612022

10 SubmittersRCV000763174 RCV001196500 RCV001836645 RCV001783030 RCV002231248 RCV003448980 RCV005869592 RCV006257301

NM_000089.4(COL1A2):c.1072G>A (p.Gly358Ser)

SNV
Germline

Chr7:94410278

Pathogenic

Condition: not provided
Osteogenesis imperfecta, perinatal lethal
Osteogenesis imperfecta type III
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I
7 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA162920823

rs_66619856

9 SubmittersRCV001091391 RCV001542470 RCV001809476 RCV002231005 RCV002490955

NM_000089.4(COL1A2):c.1246G>A (p.Val416Ile)

SNV
Germline

Chr7:94410937

Conflicting classifications of pathogenicity

Condition: not provided
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I
Osteogenesis imperfecta type III

Criteria Provided
Conflicting Classifications

CA4346961

rs_550867796

4 SubmittersRCV000757107 RCV002231006 RCV003338649

NM_000089.4(COL1A2):c.2133+6T>A

SNV
Germline

Chr7:94420292

Pathogenic

Osteogenesis imperfecta, perinatal lethal
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I
Osteogenesis imperfecta with normal sclerae, dominant form

Criteria Provided
Multiple Submitters
No Conflicts

CA162935440

rs_72658164

3 SubmittersRCV001255997 RCV002231011 RCV005863193

NM_000089.4(COL1A2):c.2163C>T (p.Gly721=)

SNV
Germline

Chr7:94420420

Conflicting classifications of pathogenicity

Connective tissue disorder
Condition: not provided
Osteogenesis imperfecta
Ehlers-Danlos syndrome, arthrochalasia type, 2
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA4347337

rs_150670521

10 SubmittersRCV000680487 RCV000827609 RCV001162672 RCV001162673 RCV002231012 RCV002279336 RCV002420358 RCV005239146

NM_000089.4(COL1A2):c.433-2A>G

SNV
Germline

Chr7:94405197

Pathogenic/Likely pathogenic

Ehlers-Danlos syndrome, classic type
Osteogenesis imperfecta type I
Osteogenesis imperfecta

Criteria Provided
Multiple Submitters
No Conflicts

CA368219755

rs_1554395471

2 SubmittersRCV000548758 RCV005625671

NM_000089.4(COL1A2):c.784G>C (p.Gly262Arg)

SNV
Germline

Chr7:94408815

Likely pathogenic

Osteogenesis imperfecta with normal sclerae, dominant form
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA368220513

rs_1554395970

2 SubmittersRCV002244998 RCV002231024

NM_000089.4(COL1A2):c.920G>A (p.Gly307Asp)

SNV
Germline

Chr7:94409592

Pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Single Submitter

CA162920026

rs_72656390

1 SubmittersRCV002231025

NM_000089.4(COL1A2):c.1503+1G>C

SNV
Germline

Chr7:94412683

Pathogenic

Condition: not provided
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA368221978

rs_1554396615

2 SubmittersRCV001575496 RCV002231228

NM_000089.4(COL1A2):c.1964G>A (p.Gly655Glu)

SNV
Germline

Chr7:94417824

Pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Single Submitter

CA368222956

rs_1554397275

1 SubmittersRCV002231232

NM_000088.4(COL1A1):c.3936G>A (p.Trp1312Ter)

SNV
Germline

Chr17:50186386

Pathogenic

Osteogenesis imperfecta type I
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA400193384

rs_72656343

2 SubmittersRCV000552645 RCV001545430

NM_000088.4(COL1A1):c.3893C>A (p.Thr1298Asn)

SNV
Germline

Chr17:50186429

Pathogenic/Likely pathogenic

Osteogenesis imperfecta type I
8 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA400193618

rs_1555571755

2 SubmittersRCV000533081 RCV005018906

NM_000088.4(COL1A1):c.3647A>G (p.Tyr1216Cys)

SNV
Germline

Chr17:50186807

Pathogenic/Likely pathogenic

Osteogenesis imperfecta type I
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA400197506

rs_1555571849

3 SubmittersRCV000550757 RCV001547583

NM_000088.4(COL1A1):c.3369+5G>C

SNV
Germline

Chr17:50187871

Likely pathogenic

Osteogenesis imperfecta type I
COL1A1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA658656699

rs_1555572075

2 SubmittersRCV000547028 RCV004553178

NM_000088.4(COL1A1):c.3207+1G>C

SNV
Germline

Chr17:50188529

Pathogenic/Likely pathogenic

Osteogenesis imperfecta type I
COL1A1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA400200495

rs_1555572239

2 SubmittersRCV000528176 RCV004553177

NM_000088.4(COL1A1):c.2128-1G>C

SNV
Germline

Chr17:50191491

Pathogenic

Osteogenesis imperfecta type I
not specified

Criteria Provided
Multiple Submitters
No Conflicts

CA291543992

rs_67543897

2 SubmittersRCV000533873 RCV001000789

NM_000088.4(COL1A1):c.1516-1G>A

SNV
Germline

Chr17:50194448

Pathogenic

Osteogenesis imperfecta type I
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA400217030

rs_72648352

3 SubmittersRCV000560259 RCV006250798

NM_000088.4(COL1A1):c.796G>C (p.Gly266Arg)

SNV
Germline

Chr17:50197018

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400223710

rs_1555574493

1 SubmittersRCV000558433

NM_000088.4(COL1A1):c.35T>G (p.Leu12Arg)

SNV
Germline

Chr17:50201479

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type I
not specified

Criteria Provided
Conflicting Classifications

CA400230428

rs_1555575857

2 SubmittersRCV000525857 RCV003230531

NM_000088.4(COL1A1):c.4090C>T (p.Gln1364Ter)

SNV
Germline

Chr17:50185936

Pathogenic

Osteogenesis imperfecta type I
Infantile cortical hyperostosis
Ehlers-Danlos syndrome, arthrochalasia type, 2
Ehlers-Danlos syndrome, arthrochalasia type
Osteogenesis imperfecta

Criteria Provided
Single Submitter

CA400192334

rs_1555571647

2 SubmittersRCV000558998 RCV005863192

NM_000088.4(COL1A1):c.3825G>A (p.Trp1275Ter)

SNV
Germline

Chr17:50186497

Pathogenic

Osteogenesis imperfecta type I
Osteogenesis imperfecta

Criteria Provided
Multiple Submitters
No Conflicts

CA400193987

rs_1555571766

2 SubmittersRCV000538278 RCV002279334

NM_000088.4(COL1A1):c.2602G>A (p.Ala868Thr)

SNV
Germline

Chr17:50189870

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type I
Cardiovascular phenotype
8 conditions
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA8644745

rs_779846520

5 SubmittersRCV000525106 RCV002438296 RCV002497061 RCV003319367 RCV005239145

NM_000088.4(COL1A1):c.2028+2T>G

SNV
Germline

Chr17:50191978

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA291544088

rs_72651635

1 SubmittersRCV000552461

NM_000088.4(COL1A1):c.903+1G>A

SNV
Germline

Chr17:50196483

Pathogenic

Osteogenesis imperfecta type I
Osteogenesis imperfecta with normal sclerae, dominant form

Criteria Provided
Multiple Submitters
No Conflicts

CA400222006

rs_1298621011

3 SubmittersRCV000527395 RCV003326451

NM_000088.4(COL1A1):c.3423A>C (p.Arg1141=)

SNV
Germline

Chr17:50187484

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, arthrochalasia type
Infantile cortical hyperostosis
Osteogenesis imperfecta
Ehlers-Danlos syndrome
Cardiovascular phenotype
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8644454

rs_148737409

6 SubmittersRCV000530956 RCV001125395 RCV001125394 RCV001124398 RCV002279333 RCV002456053 RCV005418194 RCV006438190

NM_000088.4(COL1A1):c.3407G>C (p.Gly1136Ala)

SNV
Germline

Chr17:50187500

Likely pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400199220

rs_1555572013

1 SubmittersRCV000559468

NM_000088.4(COL1A1):c.1012G>A (p.Gly338Ser)

SNV
Germline

Chr17:50195967

Pathogenic/Likely pathogenic

Osteogenesis imperfecta type I
Condition: not provided
8 conditions
Osteogenesis imperfecta type III

Criteria Provided
Multiple Submitters
No Conflicts

CA8645430

rs_66664580

6 SubmittersRCV000534961 RCV001560527 RCV004796230 RCV006270391

NM_000088.4(COL1A1):c.608G>T (p.Gly203Val)

SNV
Germline

Chr17:50197983

Pathogenic

Osteogenesis imperfecta type I
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA291548107

rs_72667031

5 SubmittersRCV000526144 RCV001580124

NM_000088.4(COL1A1):c.103+5G>A

SNV
Germline

Chr17:50201406

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type I
Condition: not provided

Criteria Provided
Conflicting Classifications

CA658658624

rs_1555575835

2 SubmittersRCV000549872 RCV004787844

NM_000088.4(COL1A1):c.3688G>A (p.Glu1230Lys)

SNV
Germline

Chr17:50186766

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type I
Condition: not provided

Criteria Provided
Conflicting Classifications

CA291542875

rs_376564562

2 SubmittersRCV000539210 RCV003114655

NM_000088.4(COL1A1):c.3045+3G>A

SNV
Germline

Chr17:50188900

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type I
Condition: not provided
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA8644613

rs_41316695

4 SubmittersRCV000537927 RCV001696985 RCV002448622 RCV003230530

NM_000088.4(COL1A1):c.2644C>T (p.Arg882Ter)

SNV
Germline

Chr17:50189702

Pathogenic

Osteogenesis imperfecta type I
Condition: not provided
Osteogenesis imperfecta
Ehlers-Danlos syndrome, arthrochalasia type
Osteogenesis imperfecta
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA291543234

rs_72653147

7 SubmittersRCV000542101 RCV000578858 RCV001535522 RCV002279330 RCV005318419

NM_000088.4(COL1A1):c.2032G>A (p.Glu678Lys)

SNV
Germline

Chr17:50191883

Pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA400212062

rs_1213427451

3 SubmittersRCV000533017 RCV002279327 RCV002289720

NM_000088.4(COL1A1):c.1393G>T (p.Glu465Ter)

SNV
Germline

Chr17:50194789

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA291546319

rs_865999256

1 SubmittersRCV000529907

NM_000088.4(COL1A1):c.1269C>T (p.Pro423=)

SNV
Germline

Chr17:50195262

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, arthrochalasia type
Osteogenesis imperfecta
Infantile cortical hyperostosis
Ehlers-Danlos syndrome
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA8645328

rs_149301001

10 SubmittersRCV000553010 RCV001084966 RCV001125754 RCV001125753 RCV001125755 RCV002279326 RCV002448621 RCV006268840

NM_000088.4(COL1A1):c.1103G>C (p.Gly368Ala)

SNV
Germline

Chr17:50195619

Pathogenic/Likely pathogenic

Osteogenesis imperfecta type I
Osteogenesis imperfecta
Osteogenesis imperfecta with normal sclerae, dominant form

Criteria Provided
Multiple Submitters
No Conflicts

CA400219930

rs_1555574151

3 SubmittersRCV000538665 RCV001260276 RCV005420210

NM_000088.4(COL1A1):c.862G>T (p.Glu288Ter)

SNV
Germline

Chr17:50196525

Pathogenic

Osteogenesis imperfecta type I
Osteogenesis imperfecta

Criteria Provided
Multiple Submitters
No Conflicts

CA400222280

rs_72645341

3 SubmittersRCV000534334 RCV004525960

NM_000088.4(COL1A1):c.770G>A (p.Gly257Glu)

SNV
Germline

Chr17:50197044

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400223882

rs_1555574496

1 SubmittersRCV000545904

NM_000088.4(COL1A1):c.3207+1G>A

SNV
Germline

Chr17:50188529

Pathogenic

Condition: not provided
Osteogenesis imperfecta type I
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA400200497

rs_1555572239

4 SubmittersRCV000578505 RCV000631486 RCV003313966

NM_000088.4(COL1A1):c.262G>T (p.Glu88Ter)

SNV
Germline

Chr17:50199789

Pathogenic

Condition: not provided
Osteogenesis imperfecta type I

Criteria Provided
Multiple Submitters
No Conflicts

CA400228115

rs_1555575370

2 SubmittersRCV000578718 RCV000802325

NM_000088.4(COL1A1):c.104-1G>T

SNV
Germline

Chr17:50199948

Pathogenic/Likely pathogenic

Condition: not provided
Osteogenesis imperfecta type I

Criteria Provided
Multiple Submitters
No Conflicts

CA400228728

rs_1555575456

2 SubmittersRCV000579263 RCV005420211

NM_000088.4(COL1A1):c.3099+2T>A

SNV
Germline

Chr17:50188740

Likely pathogenic

Osteogenesis imperfecta type I
Condition: not provided

Criteria Provided
Single Submitter

CA400202950

rs_1555572315

2 SubmittersRCV004767422 RCV005251154

NM_000088.4(COL1A1):c.1003-1G>A

SNV
Germline

Chr17:50195977

Pathogenic/Likely pathogenic

Condition: not provided
Osteogenesis imperfecta type I

Criteria Provided
Multiple Submitters
No Conflicts

CA400221105

rs_72645361

2 SubmittersRCV000585423 RCV001860110

NM_000478.6(ALPL):c.815G>A (p.Arg272His)

SNV
Germline

Chr1:21570327

Pathogenic/Likely pathogenic

Hypophosphatasia
Infantile hypophosphatasia
Condition: not provided
Osteogenesis imperfecta
Adult hypophosphatasia
Adult hypophosphatasia
Childhood hypophosphatasia
Infantile hypophosphatasia

Criteria Provided
Multiple Submitters
No Conflicts

CA666626

rs_781272386

9 SubmittersRCV000587658 RCV000674432 RCV001597180 RCV002279370 RCV003459459 RCV005010562

NM_000089.4(COL1A2):c.1999G>T (p.Gly667Cys)

SNV
Germline

Chr7:94418526

Likely pathogenic

Osteogenesis imperfecta

Criteria Provided
Single Submitter

CA368223039

rs_1554397369

1 SubmittersRCV000587868

NM_000089.4(COL1A2):c.596G>A (p.Gly199Asp)

SNV
Germline

Chr7:94407848

Pathogenic/Likely pathogenic

Inborn genetic diseases
Osteogenesis imperfecta, perinatal lethal
Abnormality of the skeletal system
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I
7 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA368220124

rs_1554395833

5 SubmittersRCV000623858 RCV001542468 RCV001836846 RCV005223022 RCV004796244

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_000088.4(COL1A1):c.3100-6C>T

SNV
Germline

Chr17:50188643

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta type I
not specified

Criteria Provided
Conflicting Classifications

CA8644562

rs_377123276

6 SubmittersRCV000598119 RCV001084380 RCV005407776

NM_000088.4(COL1A1):c.3207+8G>T

SNV
Germline

Chr17:50188522

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta type I
COL1A1-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA291543054

rs_866785621

4 SubmittersRCV000598221 RCV002531008 RCV004737859 RCV005407778

NM_000088.4(COL1A1):c.3906C>T (p.Pro1302=)

SNV
Germline

Chr17:50186416

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta type I
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA291542850

rs_188887858

4 SubmittersRCV000595947 RCV002532391 RCV005318441 RCV005240293

NM_006129.5(BMP1):c.2134G>A (p.Gly712Ser)

SNV
Germline

Chr8:22201829

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta type 13
not specified

Criteria Provided
Conflicting Classifications

CA4665133

rs_117159093

7 SubmittersRCV000597608 RCV001162110 RCV005240294

NM_000088.4(COL1A1):c.1621A>G (p.Thr541Ala)

SNV
Germline

Chr17:50194177

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta type I

Criteria Provided
Conflicting Classifications

CA8645171

rs_766204229

3 SubmittersRCV000597522 RCV001860172

NM_000088.4(COL1A1):c.299-9G>T

SNV
Germline

Chr17:50199599

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome
not specified

Criteria Provided
Conflicting Classifications

CA8645764

rs_373041336

5 SubmittersRCV000593836 RCV001444817 RCV002279374 RCV005240295

NM_000088.4(COL1A1):c.3061G>T (p.Glu1021Ter)

SNV
Germline

Chr17:50188780

Pathogenic

Condition: not provided
Osteogenesis imperfecta type I

Criteria Provided
Multiple Submitters
No Conflicts

CA400203279

rs_139593707

2 SubmittersRCV000598016 RCV001215501

NM_000089.4(COL1A2):c.1008C>T (p.Ala336=)

SNV
Germline

Chr7:94409794

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA4346903

rs_138357977

6 SubmittersRCV000597506 RCV002232231 RCV002456301

NM_001025295.3(IFITM5):c.120G>A (p.Ser40=)

SNV
Germline

Chr11:299371

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta

Criteria Provided
Conflicting Classifications

CA5773483

rs_79625057

4 SubmittersRCV000597738 RCV002279377

NM_000088.4(COL1A1):c.516C>T (p.Thr172=)

SNV
Germline

Chr17:50198460

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta type I
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA8645684

rs_377195143

5 SubmittersRCV000597852 RCV001439435 RCV003302912

NM_000088.4(COL1A1):c.2838T>G (p.Pro946=)

SNV
Germline

Chr17:50189267

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta type I
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA500992037

rs_1555572418

5 SubmittersRCV000710767 RCV001081361 RCV003160025

NM_000088.4(COL1A1):c.3258C>T (p.Pro1086=)

SNV
Germline

Chr17:50188099

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta type I
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA8644507

rs_200319927

3 SubmittersRCV000597893 RCV001473676 RCV003380626

NM_000088.4(COL1A1):c.3065G>C (p.Gly1022Ala)

SNV
Germline

Chr17:50188776

Pathogenic

Condition: not provided
Osteogenesis imperfecta type I
8 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA291543082

rs_67771061

3 SubmittersRCV000597715 RCV001062270 RCV004796245

NM_000088.4(COL1A1):c.2715C>T (p.Gly905=)

SNV
Germline

Chr17:50189491

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta type I
Cardiovascular phenotype
COL1A1-related disorder

Criteria Provided
Conflicting Classifications

CA8644696

rs_779337831

4 SubmittersRCV000598433 RCV001854047 RCV002438537 RCV004553320

NM_000089.4(COL1A2):c.2260G>T (p.Gly754Cys)

SNV
Germline

Chr7:94420613

Pathogenic/Likely pathogenic

Condition: not provided
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Multiple Submitters
No Conflicts

CA162936060

rs_72658177

3 SubmittersRCV000596743 RCV002232561

NM_000088.4(COL1A1):c.3369+9G>T

SNV
Germline

Chr17:50187867

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta type I

Criteria Provided
Conflicting Classifications

CA291542994

rs_1009435359

2 SubmittersRCV000591564 RCV003517235

NM_000089.4(COL1A2):c.2079+8T>C

SNV
Germline

Chr7:94419559

Conflicting classifications of pathogenicity

Condition: not provided
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Conflicting Classifications

CA4347291

rs_745913455

2 SubmittersRCV000595763 RCV003767402

NM_000088.4(COL1A1):c.148C>T (p.Arg50Ter)

SNV
Germline

Chr17:50199903

Pathogenic

Condition: not provided
Osteogenesis imperfecta type I

Criteria Provided
Multiple Submitters
No Conflicts

CA400228577

rs_1555575425

2 SubmittersRCV000598877 RCV005420217

NM_000088.4(COL1A1):c.3099+1G>A

SNV
Germline

Chr17:50188741

Pathogenic/Likely pathogenic

Condition: not provided
Osteogenesis imperfecta
Osteogenesis imperfecta type I

Criteria Provided
Multiple Submitters
No Conflicts

CA400202958

rs_1555572316

3 SubmittersRCV000598951 RCV001260291 RCV001860228

NM_000089.4(COL1A2):c.1405-3C>T

SNV
Germline

Chr7:94412581

Conflicting classifications of pathogenicity

not specified
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Conflicting Classifications

CA162925034

rs_1021622151

2 SubmittersRCV000602786 RCV005213355

NM_000089.4(COL1A2):c.2868C>T (p.Pro956=)

SNV
Germline

Chr7:94425782

Conflicting classifications of pathogenicity

not specified
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA4347586

rs_141516754

4 SubmittersRCV000599926 RCV002232727 RCV005318453

NM_000089.4(COL1A2):c.3792C>T (p.Ala1264=)

SNV
Germline

Chr7:94429268

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Ehlers-Danlos syndrome, arthrochalasia type, 2
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
Cardiovascular phenotype
COL1A2-related disorder

Criteria Provided
Conflicting Classifications

CA4347857

rs_745413783

7 SubmittersRCV000615308 RCV000631540 RCV001262380 RCV002232588 RCV002368056 RCV003962761

NM_000089.4(COL1A2):c.2079+3A>G

SNV
Germline

Chr7:94419554

Conflicting classifications of pathogenicity

not specified
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA576323314

rs_1226079110

3 SubmittersRCV000606996 RCV002232591 RCV002420611

NM_001025295.3(IFITM5):c.278C>T (p.Thr93Met)

SNV
Germline

Chr11:298622

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Osteogenesis imperfecta type 5

Criteria Provided
Conflicting Classifications

CA5773398

rs_141240817

4 SubmittersRCV000608083 RCV000879761 RCV003647785

NM_000088.4(COL1A1):c.2167G>A (p.Ala723Thr)

SNV
Germline

Chr17:50191451

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, arthrochalasia type
Infantile cortical hyperostosis
Osteogenesis imperfecta
Condition: not provided
Cardiovascular phenotype
COL1A1-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA8644913

rs_150803124

7 SubmittersRCV000877735 RCV001125580 RCV001125579 RCV001125581 RCV001697902 RCV002431790 RCV004547731 RCV005407801

NM_000088.4(COL1A1):c.408A>G (p.Gly136=)

SNV
Germline

Chr17:50199289

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type I
Condition: not provided
Osteogenesis imperfecta
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA8645703

rs_533127847

4 SubmittersRCV001511573 RCV001719020 RCV002279424 RCV004609455

NM_000088.4(COL1A1):c.1887C>T (p.Gly629=)

SNV
Germline

Chr17:50192682

Conflicting classifications of pathogenicity

not specified
Osteogenesis imperfecta type I
Osteogenesis imperfecta
Cardiovascular phenotype
8 conditions
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8645023

rs_375695940

8 SubmittersRCV000603235 RCV002066833 RCV002279442 RCV002413768 RCV002498987 RCV006450276

NM_000088.4(COL1A1):c.1461+13G>T

SNV
Germline

Chr17:50194708

Conflicting classifications of pathogenicity

not specified
Ehlers-Danlos syndrome, arthrochalasia type
Infantile cortical hyperostosis
Osteogenesis imperfecta
Condition: not provided
Osteogenesis imperfecta type I

Criteria Provided
Conflicting Classifications

CA8645249

rs_371161009

8 SubmittersRCV000612179 RCV001121994 RCV001124764 RCV001124765 RCV001701056 RCV002063266

NM_000089.4(COL1A2):c.1235G>T (p.Gly412Val)

SNV
Unknown

Chr7:94410926

Likely pathogenic

Osteogenesis imperfecta type III

Criteria Provided
Single Submitter

CA368221434

rs_1554396283

1 SubmittersRCV000622537

NM_000478.6(ALPL):c.550C>T (p.Arg184Trp)

SNV
Germline

Chr1:21564118

Pathogenic/Likely pathogenic

Inborn genetic diseases
Infantile hypophosphatasia
Condition: not provided
Hypophosphatasia
Osteogenesis imperfecta
Adult hypophosphatasia
Odontohypophosphatasia

Criteria Provided
Multiple Submitters
No Conflicts

CA666527

rs_763159520

15 SubmittersRCV000623730 RCV000674297 RCV001046115 RCV001730702 RCV002279446 RCV003465357 RCV005251002

NM_000089.4(COL1A2):c.1557+3A>G

SNV
Germline

Chr7:94413139

Pathogenic

Inborn genetic diseases
Osteogenesis imperfecta with normal sclerae, dominant form
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Multiple Submitters
No Conflicts

CA162925926

rs_72658127

3 SubmittersRCV000622570 RCV001807644 RCV006556452

NM_000089.4(COL1A2):c.1576G>A (p.Gly526Arg)

SNV
Germline

Chr7:94413708

Pathogenic/Likely pathogenic

Osteogenesis imperfecta, perinatal lethal
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2
Condition: not provided
Osteogenesis imperfecta type I
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA162926587

rs_72658129

7 SubmittersRCV001823152 RCV002232602 RCV002289909 RCV003314628 RCV005627106 RCV006276142

NM_017633.3(TENT5A):c.380A>G (p.His127Arg)

SNV
Germline

Chr6:81751762

Pathogenic

Osteogenesis imperfecta, type 18

No Assertion Criteria Provided

CA365034059

rs_1187611948

1 SubmittersRCV000626326

NM_017633.3(TENT5A):c.692A>G (p.Asp231Gly)

SNV
Germline

Chr6:81750332

Pathogenic

Osteogenesis imperfecta, type 18

No Assertion Criteria Provided

CA365033336

rs_1554200371

1 SubmittersRCV000626327

NM_000088.4(COL1A1):c.3301G>T (p.Glu1101Ter)

SNV
Germline

Chr17:50187944

Pathogenic

Condition: not provided
Osteogenesis imperfecta type I

Criteria Provided
Multiple Submitters
No Conflicts

CA400199821

rs_867628651

2 SubmittersRCV000627343 RCV001220819

NM_000088.4(COL1A1):c.1465G>T (p.Gly489Ter)

SNV
Germline

Chr17:50194623

Pathogenic

Condition: not provided
Osteogenesis imperfecta type I

Criteria Provided
Multiple Submitters
No Conflicts

CA400217522

rs_138570309

2 SubmittersRCV000627360 RCV003517255

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
Osteogenesis Imperfecta, Recessive
Condition: not provided
Osteogenesis imperfecta

Criteria Provided
Conflicting Classifications

CA802238

rs_201750444

4 SubmittersRCV000645496 RCV001097864 RCV001731837 RCV002279466

NM_006371.5(CRTAP):c.702C>T (p.Pro234=)

SNV
Germline

Chr3:33124488

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type 7
Osteogenesis imperfecta
CRTAP-related disorder

Criteria Provided
Conflicting Classifications

CA2300362

rs_371017739

3 SubmittersRCV000641678 RCV002279463 RCV003980243

NM_000089.4(COL1A2):c.298G>A (p.Gly100Ser)

SNV
Germline

Chr7:94404574

Pathogenic/Likely pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I
Condition: not provided
Ehlers-Danlos syndrome
COL1A2-related disorder
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA368219459

rs_1410254723

7 SubmittersRCV000845036 RCV002233933 RCV003238791 RCV003323646 RCV004527693 RCV004992415

NM_000089.4(COL1A2):c.1324G>A (p.Gly442Arg)

SNV
Germline

Chr7:94411128

Pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Single Submitter

CA368221610

rs_1554396361

1 SubmittersRCV002234404

NM_000089.4(COL1A2):c.1478G>A (p.Gly493Glu)

SNV
Germline

Chr7:94412657

Pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA162925217

rs_72658121

2 SubmittersRCV002233928 RCV005429263

NM_000089.4(COL1A2):c.1666G>T (p.Gly556Cys)

SNV
Germline

Chr7:94414222

Pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Single Submitter

CA368222340

rs_1554396832

1 SubmittersRCV002234409

NM_000089.4(COL1A2):c.2441G>A (p.Gly814Glu)

SNV
Germline

Chr7:94422994

Pathogenic

Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA368223938

rs_1554397975

1 SubmittersRCV002233931

NM_000089.4(COL1A2):c.671G>A (p.Arg224His)

SNV
Germline

Chr7:94408214

Conflicting classifications of pathogenicity

6 conditions
Ehlers-Danlos syndrome, arthrochalasia type, 2
Osteogenesis imperfecta
Cardiovascular phenotype
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4346766

rs_771139732

5 SubmittersRCV000764735 RCV001160861 RCV001160862 RCV002377355 RCV002234411 RCV005231201

NM_000089.4(COL1A2):c.1045G>T (p.Gly349Cys)

SNV
Germline

Chr7:94410251

Pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Single Submitter

CA162920757

rs_66773001

1 SubmittersRCV002234412

NM_000089.4(COL1A2):c.1378G>A (p.Gly460Ser)

SNV
Germline

Chr7:94412095

Pathogenic

Condition: not provided
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta, perinatal lethal
Osteogenesis imperfecta type III

Criteria Provided
Multiple Submitters
No Conflicts

CA162924592

rs_72658118

6 SubmittersRCV001597190 RCV002234410 RCV003313968 RCV005627107

NM_000088.4(COL1A1):c.1369C>T (p.Gln457Ter)

SNV
Germline

Chr17:50194813

Pathogenic

Osteogenesis imperfecta type I
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA400218459

rs_1228746935

2 SubmittersRCV000631482 RCV001555220

NM_000088.4(COL1A1):c.1132C>G (p.Pro378Ala)

SNV
Germline

Chr17:50195590

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type I
Condition: not provided
COL1A1-related disorder
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA8645389

rs_764381074

6 SubmittersRCV000631503 RCV001584459 RCV004547778 RCV004992413

NM_000088.4(COL1A1):c.1111G>A (p.Gly371Ser)

SNV
Germline

Chr17:50195611

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA291546874

rs_72645368

1 SubmittersRCV000631492

NM_000088.4(COL1A1):c.805G>C (p.Gly269Arg)

SNV
Germline

Chr17:50196670

Likely pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400222713

rs_72645328

1 SubmittersRCV000631491

NM_000088.4(COL1A1):c.251C>G (p.Ala84Gly)

SNV
Germline

Chr17:50199800

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type I
Infantile cortical hyperostosis
Osteogenesis imperfecta
Ehlers-Danlos syndrome, arthrochalasia type
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA8645804

rs_775095655

4 SubmittersRCV000631478 RCV001128045 RCV001128044 RCV001128046 RCV001591407 RCV002431861

NM_000088.4(COL1A1):c.2534G>C (p.Gly845Ala)

SNV
Germline

Chr17:50190026

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400207574

rs_1555572640

1 SubmittersRCV000631463

NM_000088.4(COL1A1):c.1930-1G>A

SNV
Germline

Chr17:50192529

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400213514

rs_1555573288

1 SubmittersRCV000631496

NM_000088.4(COL1A1):c.471+5G>T

SNV
Germline

Chr17:50199221

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA658798906

rs_1555575015

1 SubmittersRCV000631467

NM_000088.4(COL1A1):c.1A>G (p.Met1Val)

SNV
Germline

Chr17:50201513

Pathogenic

Osteogenesis imperfecta type I
Condition: not provided

Criteria Provided
Single Submitter

CA400230611

rs_1555575889

3 SubmittersRCV000631497 RCV001796147

NM_000088.4(COL1A1):c.2400A>G (p.Gly800=)

SNV
Germline

Chr17:50190378

Likely pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA500845770

rs_1555572759

1 SubmittersRCV000631500

NM_000088.4(COL1A1):c.1099C>T (p.Gln367Ter)

SNV
Germline

Chr17:50195623

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400219983

rs_1555574158

1 SubmittersRCV000631473

NM_000088.4(COL1A1):c.1057-1G>A

SNV
Germline

Chr17:50195666

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Multiple Submitters
No Conflicts

CA400220332

rs_1555574177

2 SubmittersRCV000631476

NM_000088.4(COL1A1):c.599G>T (p.Gly200Val)

SNV
Germline

Chr17:50197992

Pathogenic/Likely pathogenic

Osteogenesis imperfecta type I
Condition: not provided
Ehlers-Danlos syndrome, arthrochalasia type
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA291548113

rs_72667029

5 SubmittersRCV000631480 RCV001091446 RCV003444610 RCV006342411

NM_000088.4(COL1A1):c.3061G>C (p.Glu1021Gln)

SNV
Germline

Chr17:50188780

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type I
Condition: not provided
Ehlers-Danlos syndrome
Osteogenesis imperfecta
Cardiovascular phenotype
Infantile cortical hyperostosis
Osteogenesis imperfecta
Ehlers-Danlos syndrome, arthrochalasia type, 2
COL1A1-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA8644586

rs_139593707

10 SubmittersRCV000631488 RCV001566557 RCV002279451 RCV002279450 RCV002448936 RCV003330848 RCV004737908 RCV005240351

NM_000088.4(COL1A1):c.1678G>T (p.Gly560Cys)

SNV
Germline

Chr17:50194032

Pathogenic/Likely pathogenic

Osteogenesis imperfecta type I
Condition: not provided
COL1A1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA291545054

rs_67507747

5 SubmittersRCV000631487 RCV003139957 RCV004547777

NM_000088.4(COL1A1):c.229G>T (p.Glu77Ter)

SNV
Germline

Chr17:50199822

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400228227

rs_753683126

1 SubmittersRCV000631479

NM_000088.4(COL1A1):c.2299G>A (p.Gly767Ser)

SNV
Germline

Chr17:50190861

Pathogenic

Condition: not provided
Osteogenesis imperfecta type I
Osteogenesis imperfecta
8 conditions
Osteogenesis imperfecta type III

Criteria Provided
Multiple Submitters
No Conflicts

CA291543892

rs_72651658

8 SubmittersRCV000657898 RCV000690534 RCV002279474 RCV004796266 RCV005627108

NM_000088.4(COL1A1):c.3251G>A (p.Arg1084His)

SNV
Germline

Chr17:50188106

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta type I
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA8644510

rs_746341018

4 SubmittersRCV000658788 RCV001855382 RCV005540132

NM_000089.4(COL1A2):c.433-3T>G

SNV
Germline

Chr7:94405196

Likely pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA658823304

rs_1554395470

1 SubmittersRCV000659370

NM_000089.4(COL1A2):c.1036-3T>C

SNV
Germline

Chr7:94410239

Conflicting classifications of pathogenicity

Connective tissue disorder
Condition: not provided
Osteogenesis imperfecta
Ehlers-Danlos syndrome, cardiac valvular type
Ehlers-Danlos syndrome, arthrochalasia type
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Conflicting Classifications

CA4346923

rs_370275593

4 SubmittersRCV000659373 RCV000842274 RCV001535468 RCV002235526

NM_000089.4(COL1A2):c.1198-12A>G

SNV
Germline

Chr7:94410877

Conflicting classifications of pathogenicity

Connective tissue disorder
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I
not specified

Criteria Provided
Conflicting Classifications

CA576321919

rs_1292046736

3 SubmittersRCV000659374 RCV002536339 RCV005240414

NM_000088.4(COL1A1):c.3580G>A (p.Ala1194Thr)

SNV
Germline

Chr17:50186874

Conflicting classifications of pathogenicity

Connective tissue disorder
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, arthrochalasia type
Infantile cortical hyperostosis
Osteogenesis imperfecta
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA8644392

rs_769571473

5 SubmittersRCV000659360 RCV000689162 RCV001123293 RCV001123294 RCV001124397 RCV001549827 RCV005532718

NM_000088.4(COL1A1):c.2422C>A (p.Pro808Thr)

SNV
Germline

Chr17:50190356

Conflicting classifications of pathogenicity

Connective tissue disorder
Osteogenesis imperfecta type I
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA400207963

rs_1215940390

3 SubmittersRCV000659355 RCV002534317 RCV004993916

NM_000089.4(COL1A2):c.2027G>A (p.Gly676Asp)

SNV
Germline

Chr7:94419499

Pathogenic

Dentinogenesis imperfecta
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA162932306

rs_66883877

2 SubmittersRCV000662309 RCV001861725

NM_000478.6(ALPL):c.1171C>T (p.Arg391Cys)

SNV
Germline

Chr1:21575906

Pathogenic

Infantile hypophosphatasia
Adult hypophosphatasia
Childhood hypophosphatasia
Infantile hypophosphatasia
Condition: not provided
Hypophosphatasia
Osteogenesis imperfecta
Adult hypophosphatasia
Inborn genetic diseases
ALPL-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA666747

rs_371243939

11 SubmittersRCV000665189 RCV000763303 RCV001050932 RCV001275110 RCV002279480 RCV003465439 RCV004026080 RCV004740395

NM_015884.4(MBTPS2):c.1376A>G (p.Asn459Ser)

SNV
Germline

ChrX:21882471

Pathogenic

Osteogenesis imperfecta, type 19

No Assertion Criteria Provided

CA412570287

rs_1555986267

1 SubmittersRCV000675188

NM_015884.4(MBTPS2):c.1515G>C (p.Leu505Phe)

SNV
Germline

ChrX:21882610

Pathogenic

Osteogenesis imperfecta, type 19

No Assertion Criteria Provided

CA412570760

rs_1555986287

1 SubmittersRCV000675189

NM_052854.4(CREB3L1):c.1284C>A (p.Tyr428Ter)

SNV
Germline

Chr11:46320289

Pathogenic

Osteogenesis imperfecta type 16

No Assertion Criteria Provided

CA380225097

rs_779809838

1 SubmittersRCV000677180

NM_000088.4(COL1A1):c.2998A>G (p.Met1000Val)

SNV
Germline

Chr17:50188950

Conflicting classifications of pathogenicity

Connective tissue disorder
Osteogenesis imperfecta type I
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA8644620

rs_777265470

3 SubmittersRCV000680479 RCV000959357 RCV004993933

NM_000088.4(COL1A1):c.1062A>T (p.Glu354Asp)

SNV
Germline

Chr17:50195660

Conflicting classifications of pathogenicity

Connective tissue disorder
Condition: not provided
Osteogenesis imperfecta type I

Criteria Provided
Conflicting Classifications

CA8645401

rs_778733293

3 SubmittersRCV000680481 RCV001508819 RCV001247288

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_000089.4(COL1A2):c.595-2A>G

SNV
Germline

Chr7:94407845

Pathogenic/Likely pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA162917418

rs_72656375

3 SubmittersRCV002233686 RCV001526530 RCV003442054

NM_000089.4(COL1A2):c.1208G>T (p.Gly403Val)

SNV
Germline

Chr7:94410899

Likely pathogenic

Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA368221381

rs_1554396271

1 SubmittersRCV002233226

NM_000089.4(COL1A2):c.2242G>A (p.Gly748Ser)

SNV
Germline

Chr7:94420595

Likely pathogenic

Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA368223540

rs_1562905246

1 SubmittersRCV002233545

NM_000089.4(COL1A2):c.398G>T (p.Gly133Val)

SNV
Germline

Chr7:94404858

Likely pathogenic

Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA368219680

rs_1562899031

1 SubmittersRCV002233541

NM_000089.4(COL1A2):c.749G>T (p.Gly250Val)

SNV
Germline

Chr7:94408780

Likely pathogenic

Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA368220448

rs_1562900513

1 SubmittersRCV002232840

NM_000089.4(COL1A2):c.1127G>T (p.Gly376Val)

SNV
Germline

Chr7:94410457

Pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
7 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA162921116

rs_67543427

2 SubmittersRCV002233375 RCV002477619

NM_000089.4(COL1A2):c.2521G>A (p.Gly841Ser)

SNV
Germline

Chr7:94423074

Pathogenic

Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA162938043

rs_72658194

1 SubmittersRCV002232871

NM_000089.4(COL1A2):c.4063G>T (p.Glu1355Ter)

SNV
Germline

Chr7:94430355

Likely pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Single Submitter

CA368227363

rs_760626067

1 SubmittersRCV002232963

NM_000089.4(COL1A2):c.433-2A>C

SNV
Germline

Chr7:94405197

Pathogenic/Likely pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
7 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA368219754

rs_1554395471

2 SubmittersRCV002233416 RCV005046965

NM_000089.4(COL1A2):c.2943+1G>C

SNV
Germline

Chr7:94425858

Likely pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Single Submitter

CA368224937

rs_1562907190

1 SubmittersRCV002232982

NM_000089.4(COL1A2):c.3106G>T (p.Gly1036Cys)

SNV
Germline

Chr7:94427008

Likely pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Single Submitter

CA368225286

rs_72659325

1 SubmittersRCV002233636

NM_000088.4(COL1A1):c.3487G>A (p.Gly1163Arg)

SNV
Germline

Chr17:50187059

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400198718

rs_1567753329

1 SubmittersRCV000706274

NM_000088.4(COL1A1):c.2560G>C (p.Gly854Arg)

SNV
Germline

Chr17:50189912

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400207402

rs_72653140

1 SubmittersRCV000705317

NM_000088.4(COL1A1):c.2344-1G>A

SNV
Germline

Chr17:50190597

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400208279

rs_1567756567

1 SubmittersRCV000697550

NM_000088.4(COL1A1):c.2127+2T>A

SNV
Germline

Chr17:50191786

Pathogenic

Osteogenesis imperfecta type I
Thyroid cancer, nonmedullary, 1

Criteria Provided
Single Submitter

CA400211539

rs_72651644

2 SubmittersRCV000695888 RCV005901693

NM_000088.4(COL1A1):c.1237G>C (p.Gly413Arg)

SNV
Germline

Chr17:50195294

Likely pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400218833

rs_1567760604

1 SubmittersRCV000687601

NM_000088.4(COL1A1):c.679G>A (p.Gly227Arg)

SNV
Germline

Chr17:50197749

Likely pathogenic

Osteogenesis imperfecta type I
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA400224628

rs_1567763007

2 SubmittersRCV000697699 RCV006250850

NM_000088.4(COL1A1):c.2830-1G>A

SNV
Germline

Chr17:50189276

Pathogenic

Osteogenesis imperfecta type I
Osteogenesis imperfecta

Criteria Provided
Multiple Submitters
No Conflicts

CA400205276

rs_111594467

2 SubmittersRCV000700462 RCV002279492

NM_000088.4(COL1A1):c.2405G>A (p.Arg802His)

SNV
Germline

Chr17:50190373

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type I
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA8644817

rs_556916354

3 SubmittersRCV000700301 RCV001849066 RCV005801860

NM_000088.4(COL1A1):c.2197C>T (p.Arg733Cys)

SNV
Germline

Chr17:50191421

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400210975

rs_1567757112

1 SubmittersRCV000693048

NM_000088.4(COL1A1):c.1654A>T (p.Lys552Ter)

SNV
Germline

Chr17:50194144

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400215845

rs_1567759402

1 SubmittersRCV000704376

NM_000088.4(COL1A1):c.697-1G>C

SNV
Germline

Chr17:50197234

Pathogenic

Osteogenesis imperfecta type I
Condition: not provided
Osteogenesis imperfecta, perinatal lethal

Criteria Provided
Multiple Submitters
No Conflicts

CA400224345

rs_67163049

3 SubmittersRCV000703698 RCV001592900 RCV006554578

NM_000088.4(COL1A1):c.697-1G>A

SNV
Germline

Chr17:50197234

Pathogenic

Osteogenesis imperfecta type I
Condition: not provided
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400224346

rs_67163049

3 SubmittersRCV000705639 RCV005601083 RCV005901738

NM_000088.4(COL1A1):c.571G>A (p.Gly191Ser)

SNV
Germline

Chr17:50198178

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400225606

rs_1567763451

1 SubmittersRCV000697426

NM_000088.4(COL1A1):c.334-9A>G

SNV
Germline

Chr17:50199462

Pathogenic/Likely pathogenic

Osteogenesis imperfecta type I
Condition: not provided
Osteogenesis imperfecta

Criteria Provided
Multiple Submitters
No Conflicts

CA891843718

rs_1567764387

5 SubmittersRCV000690720 RCV001540744 RCV002279487

NM_000088.4(COL1A1):c.3G>A (p.Met1Ile)

SNV
Germline

Chr17:50201511

Pathogenic

Osteogenesis imperfecta type I
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA400230605

rs_1567766329

2 SubmittersRCV000686962 RCV001823161

NM_000088.4(COL1A1):c.4369G>A (p.Asp1457Asn)

SNV
Germline

Chr17:50185528

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type I
Condition: not provided
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA8644172

rs_761895918

5 SubmittersRCV000702472 RCV001771993 RCV004026594 RCV005901723

NM_000088.4(COL1A1):c.3994G>A (p.Asp1332Asn)

SNV
Germline

Chr17:50186328

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type I
Cardiovascular phenotype
Condition: not provided
not specified
8 conditions

Criteria Provided
Conflicting Classifications

CA8644300

rs_754984293

5 SubmittersRCV000702037 RCV002369933 RCV004588143 RCV006459839 RCV005407901

NM_000088.4(COL1A1):c.3531+1G>A

SNV
Germline

Chr17:50187014

Pathogenic/Likely pathogenic

Osteogenesis imperfecta type I
Osteogenesis imperfecta

Criteria Provided
Multiple Submitters
No Conflicts

CA291542901

rs_72656326

3 SubmittersRCV000689406 RCV001796185

NM_000088.4(COL1A1):c.3389G>A (p.Gly1130Asp)

SNV
Germline

Chr17:50187518

Likely pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400199306

rs_1567753699

1 SubmittersRCV000695079

NM_000088.4(COL1A1):c.1299C>T (p.Ser433=)

SNV
Germline

Chr17:50195232

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type I
Condition: not provided
Osteogenesis imperfecta
Ehlers-Danlos syndrome

Criteria Provided
Conflicting Classifications

CA8645324

rs_776229611

5 SubmittersRCV000700335 RCV003736891 RCV005429033

NM_000088.4(COL1A1):c.802A>T (p.Arg268Ter)

SNV
Germline

Chr17:50197012

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400223654

rs_1567762257

1 SubmittersRCV000700349

NM_000088.4(COL1A1):c.2T>C (p.Met1Thr)

SNV
Germline

Chr17:50201512

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400230607

rs_1567766338

1 SubmittersRCV000702474

NM_000478.6(ALPL):c.1505C>T (p.Ser502Leu)

SNV
Germline

Chr1:21577578

Conflicting classifications of pathogenicity

Condition: not provided
Hypophosphatasia
Osteogenesis imperfecta
Adult hypophosphatasia
Childhood hypophosphatasia
Infantile hypophosphatasia

Criteria Provided
Conflicting Classifications

CA666868

rs_550358395

7 SubmittersRCV000710511 RCV001825412 RCV002279495 RCV002507242

NM_000089.4(COL1A2):c.389G>T (p.Gly130Val)

SNV
Germline

Chr7:94404849

Pathogenic/Likely pathogenic

Condition: not provided
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
7 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA368219666

rs_72656360

3 SubmittersRCV000710787 RCV001861953 RCV005034334

NM_000089.4(COL1A2):c.1991G>T (p.Gly664Val)

SNV
Germline

Chr7:94418518

Pathogenic

Condition: not provided
Osteogenesis imperfecta with normal sclerae, dominant form

Criteria Provided
Multiple Submitters
No Conflicts

CA368223021

rs_72658154

2 SubmittersRCV000710777 RCV005627109

NM_000089.4(COL1A2):c.2503G>A (p.Gly835Ser)

SNV
Germline

Chr7:94423056

Pathogenic

Condition: not provided
Osteogenesis imperfecta

Criteria Provided
Single Submitter

CA162938021

rs_72658193

2 SubmittersRCV000710781 RCV000722165

NM_000089.4(COL1A2):c.3304G>A (p.Gly1102Ser)

SNV
Germline

Chr7:94427663

Pathogenic

Condition: not provided
Osteogenesis imperfecta, perinatal lethal
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA162941098

rs_67768540

3 SubmittersRCV000710784 RCV003388595 RCV005223133

NM_000088.4(COL1A1):c.1614+1G>C

SNV
Germline

Chr17:50194348

Pathogenic

Condition: not provided
Osteogenesis imperfecta type I

Criteria Provided
Multiple Submitters
No Conflicts

CA400216268

rs_72648357

2 SubmittersRCV000710758 RCV001229746

NM_000089.4(COL1A2):c.2657G>T (p.Gly886Val)

SNV
Germline

Chr7:94424427

Likely pathogenic

Osteogenesis imperfecta

No Assertion Criteria Provided

CA368224353

rs_1562906570

1 SubmittersRCV000722168

NM_000089.4(COL1A2):c.2684G>A (p.Gly895Asp)

SNV
Germline

Chr7:94425127

Pathogenic

Osteogenesis imperfecta

No Assertion Criteria Provided

CA162939356

rs_72659305

1 SubmittersRCV000722166

NM_000088.4(COL1A1):c.3425G>T (p.Gly1142Val)

SNV
Germline

Chr17:50187121

Pathogenic

Osteogenesis imperfecta
Condition: not provided

Criteria Provided
Single Submitter

CA400199021

rs_1567753448

2 SubmittersRCV000722161 RCV004820098

NM_000088.4(COL1A1):c.2164G>A (p.Gly722Ser)

SNV
Germline

Chr17:50191454

Pathogenic

Osteogenesis imperfecta

No Assertion Criteria Provided

CA291543983

rs_72651647

1 SubmittersRCV000722160

NM_000088.4(COL1A1):c.887G>C (p.Gly296Ala)

SNV
Germline

Chr17:50196500

Likely pathogenic

Osteogenesis imperfecta

No Assertion Criteria Provided

CA400222084

rs_1567761800

1 SubmittersRCV000722164

NM_000088.4(COL1A1):c.3944G>T (p.Ser1315Ile)

SNV
Germline

Chr17:50186378

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta type I
not specified

Criteria Provided
Conflicting Classifications

CA400193327

rs_1391247648

5 SubmittersRCV000728334 RCV001862142 RCV006452867

NM_000089.4(COL1A2):c.3613C>T (p.Arg1205Trp)

SNV
Germline

Chr7:94428379

Conflicting classifications of pathogenicity

Condition: not provided
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I
Cardiovascular phenotype
COL1A2-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA4347799

rs_150124840

8 SubmittersRCV000729778 RCV002233736 RCV002458340 RCV003953307 RCV005901888

NM_000088.4(COL1A1):c.2283C>T (p.Gly761=)

SNV
Germline

Chr17:50190877

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA8644879

rs_759665341

7 SubmittersRCV000731118 RCV001078689 RCV002279504 RCV002442555 RCV005405287

NM_000089.4(COL1A2):c.2904C>G (p.Pro968=)

SNV
Germline

Chr7:94425818

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Conflicting Classifications

CA4347596

rs_142352627

2 SubmittersRCV000731707 RCV002535233

NM_000088.4(COL1A1):c.472-4C>G

SNV
Germline

Chr17:50198508

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta type I

Criteria Provided
Conflicting Classifications

CA913190882

rs_753888456

2 SubmittersRCV000733969 RCV001494908

NM_000089.4(COL1A2):c.1216G>A (p.Gly406Ser)

SNV
Germline

Chr7:94410907

Pathogenic

Osteogenesis imperfecta, perinatal lethal
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Single Submitter

CA162921612

rs_72658108

2 SubmittersRCV000735746 RCV002535437

NM_006371.5(CRTAP):c.49G>A (p.Val17Met)

SNV
Germline

Chr3:33114126

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta type 7

Criteria Provided
Conflicting Classifications

CA2300176

rs_200576259

2 SubmittersRCV000755994 RCV001519909

NM_000089.4(COL1A2):c.964G>A (p.Gly322Ser)

SNV
Germline

Chr7:94409750

Pathogenic/Likely pathogenic

Condition: not provided
Osteogenesis imperfecta
Osteogenesis imperfecta with normal sclerae, dominant form
See cases
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I
7 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA162920279

rs_72656394

9 SubmittersRCV000755946 RCV001374625 RCV001543665 RCV002252228 RCV002233745 RCV005036080

NM_000089.4(COL1A2):c.2845G>A (p.Gly949Ser)

SNV
Germline

Chr7:94425759

Pathogenic

Condition: not provided
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Multiple Submitters
No Conflicts

CA162939888

rs_72659312

5 SubmittersRCV000755949 RCV002233746

NM_000089.4(COL1A2):c.2989G>A (p.Gly997Ser)

SNV
Germline

Chr7:94426043

Pathogenic/Likely pathogenic

Condition: not provided
Osteogenesis imperfecta with normal sclerae, dominant form
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA368225029

rs_1562907287

4 SubmittersRCV000755947 RCV004586915 RCV005225113

NM_021939.4(FKBP10):c.850G>A (p.Gly284Arg)

SNV
Germline

Chr17:41819332

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta type 11
Osteogenesis imperfecta
not specified

Criteria Provided
Conflicting Classifications

CA8566387

rs_372214186

6 SubmittersRCV000756168 RCV001128129 RCV002279510 RCV003994103

NM_021939.4(FKBP10):c.1363A>G (p.Ile455Val)

SNV
Germline

Chr17:41821053

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta type 11
FKBP10-related disorder

Criteria Provided
Conflicting Classifications

CA8566623

rs_146701946

8 SubmittersRCV000756167 RCV001122389 RCV003965560

NM_000088.4(COL1A1):c.4058C>A (p.Thr1353Asn)

SNV
Germline

Chr17:50185968

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta type I

Criteria Provided
Conflicting Classifications

CA291542806

rs_982770651

2 SubmittersRCV000757101 RCV002536564

NM_000088.4(COL1A1):c.2650G>A (p.Gly884Ser)

SNV
Germline

Chr17:50189696

Pathogenic/Likely pathogenic

Condition: not provided
COL1A1-related disorder
Osteogenesis imperfecta, perinatal lethal

Criteria Provided
Multiple Submitters
No Conflicts

CA400207006

rs_1567755602

4 SubmittersRCV000755940 RCV004547947 RCV006249676

NM_000089.4(COL1A2):c.569G>A (p.Gly190Glu)

SNV
Germline

Chr7:94406278

Pathogenic/Likely pathogenic

Condition: not provided
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA368220065

rs_72656369

2 SubmittersRCV000762460 RCV002533908

NM_000088.4(COL1A1):c.3055G>T (p.Gly1019Cys)

SNV
Unknown

Chr17:50188786

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400203311

rs_1598288342

1 SubmittersRCV000853622

NM_005430.4(WNT1):c.754G>C (p.Gly252Arg)

SNV
Germline

Chr12:48981281

Conflicting classifications of pathogenicity

Osteogenesis imperfecta
Condition: not provided
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA6544467

rs_200151492

6 SubmittersRCV000770973 RCV001585697 RCV002533979 RCV003330945

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

3 SubmittersRCV001869131

NM_002615.7(SERPINF1):c.397C>T (p.Gln133Ter)

SNV
Germline

Chr17:1771142

Pathogenic

Osteogenesis imperfecta type 6

Criteria Provided
Single Submitter

rs_138610575

1 SubmittersRCV006257503

NM_024821.5(CCDC134):c.2T>C (p.Met1Thr)

SNV
Germline

Chr22:41808892

Pathogenic

Recurrent fractures
Osteogenesis imperfecta, IIA 22
Severe progressive deforming recessive osteogenesis imperfecta (type III)

Criteria Provided
Single Submitter

CA411747817

rs_1255441851

3 SubmittersRCV000785184 RCV001849093 RCV002245667

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_000088.4(COL1A1):c.120C>A (p.Cys40Ter)

SNV
Germline

Chr17:50199931

Pathogenic

Osteogenesis imperfecta
Osteogenesis imperfecta type I
COL1A1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA400228674

rs_762780039

3 SubmittersRCV000790420 RCV003631162 RCV004723173

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_000088.4(COL1A1):c.77G>A (p.Gly26Asp)

SNV
Germline

Chr17:50201437

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, arthrochalasia type
Condition: not provided
Osteogenesis imperfecta
Infantile cortical hyperostosis
Ehlers-Danlos syndrome
Cardiovascular phenotype
COL1A1-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA8645881

rs_151171179

10 SubmittersRCV000786920 RCV001122287 RCV001091447 RCV001122286 RCV001122288 RCV002279529 RCV004027358 RCV004738003 RCV005432420

NM_000089.4(COL1A2):c.2633C>T (p.Ser878Leu)

SNV
Germline

Chr7:94424403

Conflicting classifications of pathogenicity

Condition: not provided
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Conflicting Classifications

CA4347511

rs_773819922

2 SubmittersRCV000788762 RCV002535790

NM_000088.4(COL1A1):c.436C>A (p.Pro146Thr)

SNV
Germline

Chr17:50199261

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta type I
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA8645701

rs_756846639

5 SubmittersRCV000788756 RCV001370161 RCV004994006

NM_000089.4(COL1A2):c.1244G>T (p.Gly415Val)

SNV
Germline

Chr7:94410935

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type III
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Conflicting Classifications

CA368221453

rs_1584320246

2 SubmittersRCV000790438 RCV005213404

NM_000089.4(COL1A2):c.2405G>T (p.Gly802Val)

SNV
Germline

Chr7:94422958

Likely pathogenic

Osteogenesis imperfecta
Osteogenesis imperfecta type III
Ehlers-Danlos syndrome, arthrochalasia type, 2
Osteogenesis imperfecta with normal sclerae, dominant form
Condition: not provided
Thyroid cancer, nonmedullary, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA368223872

rs_1562906013

3 SubmittersRCV000791086 RCV000791087 RCV000791088 RCV000790932 RCV001268104 RCV005901943

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_006371.5(CRTAP):c.198C>A (p.Tyr66Ter)

SNV
Germline

Chr3:33114275

Pathogenic

Osteogenesis imperfecta type 7
Osteogenesis imperfecta

Criteria Provided
Multiple Submitters
No Conflicts

CA72699473

rs_137853939

2 SubmittersRCV000815568 RCV003155319

NM_000089.4(COL1A2):c.299G>T (p.Gly100Val)

SNV
Germline

Chr7:94404575

Likely pathogenic

Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA368219462

rs_1584315950

1 SubmittersRCV002235124

NM_000089.4(COL1A2):c.586G>A (p.Gly196Ser)

SNV
Germline

Chr7:94406295

Pathogenic

Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA368220095

rs_1057517953

1 SubmittersRCV002235296

NM_000089.4(COL1A2):c.647G>A (p.Arg216His)

SNV
Germline

Chr7:94408190

Conflicting classifications of pathogenicity

Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA4346757

rs_756743425

3 SubmittersRCV002235348 RCV004609546 RCV006459946

NM_000089.4(COL1A2):c.731G>A (p.Gly244Asp)

SNV
Germline

Chr7:94408373

Pathogenic

Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA368220404

rs_1584318303

1 SubmittersRCV002234750

NM_000089.4(COL1A2):c.1342G>C (p.Gly448Arg)

SNV
Germline

Chr7:94411146

Pathogenic/Likely pathogenic

Ehlers-Danlos syndrome, arthrochalasia type, 2
Osteogenesis imperfecta, perinatal lethal
Osteogenesis imperfecta type III
Ehlers-Danlos syndrome, cardiac valvular type
Osteogenesis imperfecta with normal sclerae, dominant form
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA368221652

rs_1584320605

3 SubmittersRCV000850502 RCV002234320 RCV003238813

NM_000089.4(COL1A2):c.1522G>A (p.Gly508Ser)

SNV
Germline

Chr7:94413101

Conflicting classifications of pathogenicity

Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I
Condition: not provided
Osteogenesis imperfecta with normal sclerae, dominant form

Criteria Provided
Conflicting Classifications

CA4347093

rs_769600024

5 SubmittersRCV002235123 RCV002275144 RCV004789223

NM_000089.4(COL1A2):c.1892G>T (p.Gly631Val)

SNV
Germline

Chr7:94417752

Pathogenic

Osteogenesis imperfecta with normal sclerae, dominant form
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I
Osteogenesis imperfecta type III

Criteria Provided
Multiple Submitters
No Conflicts

CA368222817

rs_1584324507

3 SubmittersRCV001809838 RCV002235563 RCV004596359

NM_000089.4(COL1A2):c.2098G>C (p.Gly700Arg)

SNV
Germline

Chr7:94420251

Pathogenic

Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA368223242

rs_72658160

1 SubmittersRCV002235432

NM_000089.4(COL1A2):c.2098G>T (p.Gly700Cys)

SNV
Germline

Chr7:94420251

Pathogenic

Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA162935392

rs_72658160

2 SubmittersRCV002234258 RCV003223677

NM_000089.4(COL1A2):c.2278G>A (p.Gly760Arg)

SNV
Germline

Chr7:94420631

Pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Single Submitter

CA368223611

rs_1584326393

1 SubmittersRCV002233867

NM_000089.4(COL1A2):c.3495C>G (p.Asp1165Glu)

SNV
Germline

Chr7:94427854

Pathogenic

Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA162941293

rs_72659340

1 SubmittersRCV002235573

NM_000088.4(COL1A1):c.4168C>T (p.Leu1390Phe)

SNV
Germline

Chr17:50185858

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type I
Cardiovascular phenotype
Condition: not provided
COL1A1-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA8644249

rs_768808806

9 SubmittersRCV000819846 RCV002332698 RCV003482319 RCV004549897 RCV005438037

NM_000088.4(COL1A1):c.4081G>T (p.Glu1361Ter)

SNV
Germline

Chr17:50185945

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400192394

rs_141011435

1 SubmittersRCV000818221

NM_000088.4(COL1A1):c.3842G>T (p.Gly1281Val)

SNV
Germline

Chr17:50186480

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type I
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA291542853

rs_918420911

4 SubmittersRCV000815255 RCV001289261 RCV002469297

NM_000088.4(COL1A1):c.3496G>A (p.Gly1166Ser)

SNV
Germline

Chr17:50187050

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400198666

rs_72656324

1 SubmittersRCV000811744

NM_000088.4(COL1A1):c.1273G>A (p.Gly425Ser)

SNV
Germline

Chr17:50195258

Pathogenic

Osteogenesis imperfecta type I
Condition: not provided
Osteogenesis imperfecta type III
8 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA291546608

rs_72648330

6 SubmittersRCV000801597 RCV001575653 RCV001788353 RCV004796318

NM_000088.4(COL1A1):c.1261C>T (p.Gln421Ter)

SNV
Germline

Chr17:50195270

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400218721

rs_1598296825

1 SubmittersRCV000822393

NM_000088.4(COL1A1):c.1192G>T (p.Gly398Cys)

SNV
Germline

Chr17:50195442

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA291546780

rs_72648319

1 SubmittersRCV000822609

NM_000088.4(COL1A1):c.1138G>A (p.Gly380Ser)

SNV
Germline

Chr17:50195584

Pathogenic

Osteogenesis imperfecta type I
Osteogenesis imperfecta with normal sclerae, dominant form

Criteria Provided
Multiple Submitters
No Conflicts

CA400219616

rs_72648313

2 SubmittersRCV000792555 RCV002470982

NM_000088.4(COL1A1):c.823G>T (p.Gly275Cys)

SNV
Germline

Chr17:50196652

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400222611

rs_72645332

1 SubmittersRCV000824299

NM_000088.4(COL1A1):c.779G>T (p.Gly260Val)

SNV
Germline

Chr17:50197035

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400223828

rs_1598299070

1 SubmittersRCV000822219

NM_000088.4(COL1A1):c.661G>A (p.Gly221Ser)

SNV
Germline

Chr17:50197767

Pathogenic/Likely pathogenic

Osteogenesis imperfecta type I
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA400224750

rs_72667037

3 SubmittersRCV000822915 RCV002363171 RCV004720014

NM_000088.4(COL1A1):c.427C>T (p.Pro143Ser)

SNV
Germline

Chr17:50199270

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type I
Condition: not provided

Criteria Provided
Conflicting Classifications

CA291550400

rs_570526849

2 SubmittersRCV000798625 RCV001797144

NM_000088.4(COL1A1):c.144T>A (p.His48Gln)

SNV
Germline

Chr17:50199907

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type I
Condition: not provided
Ehlers-Danlos syndrome
Osteogenesis imperfecta
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA8645823

rs_374065372

7 SubmittersRCV000819589 RCV001531431 RCV002279549 RCV002279548 RCV002390684

NM_000088.4(COL1A1):c.125A>G (p.Gln42Arg)

SNV
Germline

Chr17:50199926

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type I
Cardiovascular phenotype
Condition: not provided
8 conditions
not specified

Criteria Provided
Conflicting Classifications

CA8645826

rs_367643097

6 SubmittersRCV000815235 RCV004028845 RCV004693361 RCV005021240 RCV005407988

NM_000088.4(COL1A1):c.3046-2A>T

SNV
Germline

Chr17:50188797

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400203457

rs_72653171

1 SubmittersRCV000793255

NM_000088.4(COL1A1):c.2667+1G>A

SNV
Germline

Chr17:50189678

Pathogenic/Likely pathogenic

Osteogenesis imperfecta type I
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA291543230

rs_72653150

2 SubmittersRCV000805862 RCV003456436

NM_000088.4(COL1A1):c.2127+1G>A

SNV
Germline

Chr17:50191787

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400211546

rs_1181095991

1 SubmittersRCV000817116

NM_000088.4(COL1A1):c.1821+1G>C

SNV
Germline

Chr17:50192993

Pathogenic

Osteogenesis imperfecta type I
Osteogenesis imperfecta

Criteria Provided
Multiple Submitters
No Conflicts

CA400214875

rs_66555264

3 SubmittersRCV000804013 RCV000991250

NM_000088.4(COL1A1):c.1614+2T>A

SNV
Germline

Chr17:50194347

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Multiple Submitters
No Conflicts

CA400216262

rs_1598295482

2 SubmittersRCV000813208

NM_000088.4(COL1A1):c.334-1G>A

SNV
Germline

Chr17:50199454

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Multiple Submitters
No Conflicts

CA400227736

rs_1598301459

2 SubmittersRCV000823839

NM_000088.4(COL1A1):c.2452-1G>C

SNV
Germline

Chr17:50190109

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Multiple Submitters
No Conflicts

CA400207898

rs_72651667

2 SubmittersRCV000815634

NM_000088.4(COL1A1):c.903+2T>A

SNV
Germline

Chr17:50196482

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400221996

rs_1598298449

1 SubmittersRCV000800942

NM_002615.7(SERPINF1):c.644-4C>T

SNV
Germline

Chr17:1775054

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta type 6
SERPINF1-related disorder

Criteria Provided
Conflicting Classifications

CA8274789

rs_199977856

4 SubmittersRCV000828828 RCV001123358 RCV003908126

NM_002615.7(SERPINF1):c.509C>T (p.Thr170Met)

SNV
Germline

Chr17:1771941

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type 6
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8274724

rs_762383656

2 SubmittersRCV000844859 RCV001858445

NM_002615.7(SERPINF1):c.559C>T (p.Gln187Ter)

SNV
Germline

Chr17:1771991

Likely pathogenic

Osteogenesis imperfecta type 6

Criteria Provided
Single Submitter

CA397586469

rs_1597352358

1 SubmittersRCV000844851

NM_002615.7(SERPINF1):c.651G>A (p.Trp217Ter)

SNV
Germline

Chr17:1775065

Pathogenic

Osteogenesis imperfecta type 6

Criteria Provided
Single Submitter

CA397588600

rs_1597355244

1 SubmittersRCV000844853

NM_002615.7(SERPINF1):c.1216C>T (p.Leu406Phe)

SNV
Germline

Chr17:1777405

Likely pathogenic

Osteogenesis imperfecta type 6

Criteria Provided
Single Submitter

CA397591465

rs_1597357758

1 SubmittersRCV000844852

NM_021939.4(FKBP10):c.106C>A (p.Pro36Thr)

SNV
Germline

Chr17:41813140

Likely pathogenic

Osteogenesis imperfecta type 11

Criteria Provided
Single Submitter

CA399513479

rs_1597902342

1 SubmittersRCV000844862

NM_021939.4(FKBP10):c.134T>A (p.Val45Asp)

SNV
Germline

Chr17:41813168

Likely pathogenic

Osteogenesis imperfecta type 11

Criteria Provided
Single Submitter

CA399513563

rs_1374482728

1 SubmittersRCV000844863

NM_021939.4(FKBP10):c.370G>T (p.Gly124Cys)

SNV
Germline

Chr17:41817182

Likely pathogenic

Osteogenesis imperfecta type 11

Criteria Provided
Single Submitter

CA399514293

rs_1597905563

1 SubmittersRCV000844864

NM_000089.4(COL1A2):c.1613G>A (p.Gly538Asp)

SNV
Germline

Chr7:94413895

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type III
Osteogenesis imperfecta

Criteria Provided
Conflicting Classifications

CA368222223

rs_1584322496

2 SubmittersRCV000860001 RCV002279563

NM_005430.4(WNT1):c.501G>C (p.Trp167Cys)

SNV
Germline

Chr12:48980566

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type III
Condition: not provided

Criteria Provided
Conflicting Classifications

CA384631799

rs_1592257435

3 SubmittersRCV000860011 RCV002538348

NM_021939.4(FKBP10):c.918-2A>G

SNV
Germline

Chr17:41819528

Likely pathogenic

Osteogenesis imperfecta type III

Criteria Provided
Single Submitter

CA399516653

rs_1597907877

1 SubmittersRCV000860009

NM_001025295.3(IFITM5):c.119C>G (p.Ser40Trp)

SNV
Germline/somatic

Chr11:299372

Pathogenic/Likely pathogenic

Osteogenesis imperfecta type 5
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA378890817

rs_786201032

3 SubmittersRCV000850247 RCV002536171

NM_000089.4(COL1A2):c.431A>G (p.Asp144Gly)

SNV
Unknown

Chr7:94404891

Likely pathogenic

Osteogenesis imperfecta

Criteria Provided
Single Submitter

CA368219744

rs_1584316181

1 SubmittersRCV000991267

NM_000089.4(COL1A2):c.802G>A (p.Gly268Arg)

SNV
Unknown

Chr7:94409331

Likely pathogenic

Osteogenesis imperfecta

Criteria Provided
Single Submitter

CA368220561

rs_1584318953

1 SubmittersRCV000991266

NM_000089.4(COL1A2):c.875G>A (p.Gly292Asp)

SNV
Germline

Chr7:94409404

Pathogenic/Likely pathogenic

Osteogenesis imperfecta
Osteogenesis imperfecta with normal sclerae, dominant form
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA368220690

rs_1131692167

4 SubmittersRCV000991263 RCV003315360 RCV004702472

NM_000089.4(COL1A2):c.892G>A (p.Gly298Ser)

SNV
Germline

Chr7:94409564

Pathogenic/Likely pathogenic

Osteogenesis imperfecta
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA368220727

rs_72656389

3 SubmittersRCV000991262 RCV002536188 RCV006270442

NM_000089.4(COL1A2):c.1001G>A (p.Gly334Asp)

SNV
Germline

Chr7:94409787

Pathogenic/Likely pathogenic

Osteogenesis imperfecta
Osteogenesis imperfecta type III

Criteria Provided
Multiple Submitters
No Conflicts

CA368220949

rs_1584319418

2 SubmittersRCV000991264 RCV005627110

NM_000089.4(COL1A2):c.1667G>T (p.Gly556Val)

SNV
Germline

Chr7:94414223

Likely pathogenic

Osteogenesis imperfecta

Criteria Provided
Single Submitter

CA368222343

rs_1584322737

1 SubmittersRCV000991265

NM_000089.4(COL1A2):c.3215G>T (p.Gly1072Val)

SNV
Germline

Chr7:94427243

Likely pathogenic

Osteogenesis imperfecta

Criteria Provided
Single Submitter

CA368225516

rs_1584330959

1 SubmittersRCV000991261

NM_000088.4(COL1A1):c.4171C>T (p.Gln1391Ter)

SNV
Unknown

Chr17:50185855

Pathogenic

Osteogenesis imperfecta

Criteria Provided
Single Submitter

CA400191768

rs_2586486

1 SubmittersRCV000991252

NM_000088.4(COL1A1):c.3182G>C (p.Gly1061Ala)

SNV
Unknown

Chr17:50188555

Likely pathogenic

Osteogenesis imperfecta

Criteria Provided
Single Submitter

CA400200719

rs_72654797

1 SubmittersRCV000991251

NM_000088.4(COL1A1):c.2993G>C (p.Gly998Ala)

SNV
Germline

Chr17:50188955

Likely pathogenic

Osteogenesis imperfecta

Criteria Provided
Single Submitter

CA400203965

rs_1598288634

1 SubmittersRCV000991248

NM_000088.4(COL1A1):c.2984G>C (p.Gly995Ala)

SNV
Unknown

Chr17:50188964

Likely pathogenic

Osteogenesis imperfecta

Criteria Provided
Single Submitter

CA400204045

rs_1598288656

1 SubmittersRCV000991247

NM_000088.4(COL1A1):c.2452G>A (p.Gly818Ser)

SNV
Germline

Chr17:50190108

Pathogenic/Likely pathogenic

Osteogenesis imperfecta
Osteogenesis imperfecta type I

Criteria Provided
Multiple Submitters
No Conflicts

CA400207896

rs_1598290382

3 SubmittersRCV000991255 RCV001858505

NM_000088.4(COL1A1):c.1843G>T (p.Glu615Ter)

SNV
Unknown

Chr17:50192829

Pathogenic

Osteogenesis imperfecta

Criteria Provided
Single Submitter

CA400214823

rs_1598293920

1 SubmittersRCV000991257

NM_000088.4(COL1A1):c.733G>T (p.Gly245Trp)

SNV
Germline

Chr17:50197197

Likely pathogenic

Osteogenesis imperfecta
Osteogenesis imperfecta type III

Criteria Provided
Multiple Submitters
No Conflicts

CA400224176

rs_1598299275

2 SubmittersRCV000991254 RCV005438925

NM_000088.4(COL1A1):c.617G>T (p.Gly206Val)

SNV
Unknown

Chr17:50197974

Likely pathogenic

Osteogenesis imperfecta

Criteria Provided
Single Submitter

CA400225179

rs_1598300054

1 SubmittersRCV000991258

NM_000088.4(COL1A1):c.4248+1G>A

SNV
Unknown

Chr17:50185777

Pathogenic

Osteogenesis imperfecta
Nonpapillary renal cell carcinoma

Criteria Provided
Single Submitter

CA291542788

rs_111953130

2 SubmittersRCV000991260 RCV005906935

NM_000088.4(COL1A1):c.2667+1G>C

SNV
Germline

Chr17:50189678

Pathogenic

Osteogenesis imperfecta

Criteria Provided
Single Submitter

CA400206951

rs_72653150

1 SubmittersRCV000991246

NM_000088.4(COL1A1):c.1516-1G>C

SNV
Germline

Chr17:50194448

Pathogenic

Osteogenesis imperfecta
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA400217046

rs_72648352

2 SubmittersRCV000991256 RCV003229868

NM_000088.4(COL1A1):c.4003C>T (p.Gln1335Ter)

SNV
Germline

Chr17:50186319

Pathogenic

Osteogenesis imperfecta
Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA291542843

rs_868166455

2 SubmittersRCV000853536 RCV003631165

NM_015154.3(MESD):c.676C>T (p.Arg226Ter)

SNV
Germline

Chr15:80979248

Pathogenic

Osteogenesis imperfecta, type 20

No Assertion Criteria Provided

CA393251488

rs_1021282486

1 SubmittersRCV000853611

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
Clear cell carcinoma of kidney

Criteria Provided
Conflicting Classifications

CA801698

rs_140254470

5 SubmittersRCV000876554 RCV001535008 RCV002540006 RCV003920455 RCV005907173

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_000089.4(COL1A2):c.526T>C (p.Phe176Leu)

SNV
Germline

Chr7:94405712

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta
Ehlers-Danlos syndrome, arthrochalasia type, 2
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA4346699

rs_370234887

5 SubmittersRCV000878240 RCV001159495 RCV001159496 RCV002235943 RCV002346040

NM_000088.4(COL1A1):c.3571C>G (p.Pro1191Ala)

SNV
Germline

Chr17:50186883

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type I
Condition: not provided
Osteogenesis imperfecta
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA8644393

rs_142570406

6 SubmittersRCV000877669 RCV001557980 RCV002279593 RCV004609561

NM_000088.4(COL1A1):c.3278G>A (p.Arg1093His)

SNV
Germline

Chr17:50187967

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type I
Infantile cortical hyperostosis
Osteogenesis imperfecta
Ehlers-Danlos syndrome, arthrochalasia type
Condition: not provided
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA8644486

rs_781491172

7 SubmittersRCV000871482 RCV001125399 RCV001125400 RCV001125401 RCV001289259 RCV002442860 RCV005432469

NM_000088.4(COL1A1):c.2168C>T (p.Ala723Val)

SNV
Germline

Chr17:50191450

Conflicting classifications of pathogenicity

Osteogenesis imperfecta
Infantile cortical hyperostosis
Ehlers-Danlos syndrome, arthrochalasia type
Osteogenesis imperfecta type I
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA8644912

rs_561374961

5 SubmittersRCV001125578 RCV001124579 RCV001124580 RCV001512876 RCV004702498 RCV005318549

NM_000088.4(COL1A1):c.1018G>A (p.Ala340Thr)

SNV
Germline

Chr17:50195961

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta type I

Criteria Provided
Conflicting Classifications

CA8645428

rs_773343407

3 SubmittersRCV000878024 RCV002540034

NM_000088.4(COL1A1):c.325G>C (p.Gly109Arg)

SNV
Germline

Chr17:50199564

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta type I
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA8645758

rs_762315953

5 SubmittersRCV000871724 RCV001400552 RCV004768727 RCV005318545

NM_006371.5(CRTAP):c.1153-8T>C

SNV
Germline

Chr3:33142387

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type 7
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2300519

rs_200397785

2 SubmittersRCV000876898 RCV005243397

NM_000089.4(COL1A2):c.71-7T>C

SNV
Germline

Chr7:94397741

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta
COL1A2-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA4346451

rs_774842422

4 SubmittersRCV002235944 RCV002279595 RCV003955773 RCV005236382

NM_000088.4(COL1A1):c.3100-5G>A

SNV
Germline

Chr17:50188642

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta type I

Criteria Provided
Conflicting Classifications

CA8644561

rs_751822769

3 SubmittersRCV000876691 RCV001443939

NM_000089.4(COL1A2):c.880G>T (p.Val294Phe)

SNV
Germline

Chr7:94409409

Conflicting classifications of pathogenicity

Condition: not provided
Ehlers-Danlos syndrome
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I
Cardiovascular phenotype
COL1A2-related disorder

Criteria Provided
Conflicting Classifications

CA4346851

rs_145693444

5 SubmittersRCV000952651 RCV002279662 RCV002235777 RCV003380794 RCV004743223

NM_000089.4(COL1A2):c.1566A>G (p.Pro522=)

SNV
Germline

Chr7:94413698

Conflicting classifications of pathogenicity

Condition: not provided
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA4347122

rs_749869789

5 SubmittersRCV000952592 RCV002235839 RCV002279661 RCV004029842

NM_000089.4(COL1A2):c.2799T>C (p.Asp933=)

SNV
Germline

Chr7:94425627

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
See cases
Cardiovascular phenotype
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4347565

rs_751960243

5 SubmittersRCV002235775 RCV002252272 RCV002434317 RCV005236476 RCV005865439

NM_000089.4(COL1A2):c.2826C>T (p.Pro942=)

SNV
Germline

Chr7:94425654

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA4347572

rs_199580542

3 SubmittersRCV000949143 RCV002279654 RCV002434311

NM_000088.4(COL1A1):c.3333T>C (p.Arg1111=)

SNV
Germline

Chr17:50187912

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, arthrochalasia type
Osteogenesis imperfecta
Infantile cortical hyperostosis
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA291542997

rs_372044347

3 SubmittersRCV000952091 RCV001125398 RCV001125396 RCV001125397 RCV002320169

NM_000088.4(COL1A1):c.462C>T (p.Gly154=)

SNV
Germline

Chr17:50199235

Conflicting classifications of pathogenicity

Condition: not provided
Infantile cortical hyperostosis
Ehlers-Danlos syndrome, arthrochalasia type
Osteogenesis imperfecta
Osteogenesis imperfecta type I
Cardiovascular phenotype
COL1A1-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA8645699

rs_41317351

7 SubmittersRCV000951771 RCV001125938 RCV001124962 RCV001125939 RCV001514154 RCV002336998 RCV004553407 RCV006444721

NM_000088.4(COL1A1):c.376G>T (p.Ala126Ser)

SNV
Germline

Chr17:50199321

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type I
Condition: not provided

Criteria Provided
Conflicting Classifications

CA400227543

rs_1424117367

2 SubmittersRCV003631169 RCV004800645

NM_003118.4(SPARC):c.733G>A (p.Gly245Arg)

SNV
Germline

Chr5:151666362

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Osteogenesis imperfecta
SPARC-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA3522604

rs_41290587

8 SubmittersRCV000966976 RCV002548320 RCV002279674 RCV003928424 RCV006444890

NM_021939.4(FKBP10):c.1137G>A (p.Val379=)

SNV
Germline

Chr17:41820342

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta
FKBP10-related disorder

Criteria Provided
Conflicting Classifications

CA8566528

rs_116142981

4 SubmittersRCV000965382 RCV002279671 RCV003935996

NM_000088.4(COL1A1):c.4197C>T (p.Arg1399=)

SNV
Germline

Chr17:50185829

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, arthrochalasia type
Infantile cortical hyperostosis
Osteogenesis imperfecta
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA8644234

rs_757759451

3 SubmittersRCV000960716 RCV001127263 RCV001127264 RCV001127265 RCV002327192

NM_000089.4(COL1A2):c.1555C>T (p.Arg519Trp)

SNV
Germline

Chr7:94413134

Conflicting classifications of pathogenicity

Osteogenesis imperfecta
Ehlers-Danlos syndrome, arthrochalasia type, 2
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Conflicting Classifications

CA4347099

rs_151256720

2 SubmittersRCV001162572 RCV001162573 RCV001858557

NM_000089.4(COL1A2):c.2634G>A (p.Ser878=)

SNV
Germline

Chr7:94424404

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4347512

rs_762339011

3 SubmittersRCV002065532 RCV004609565 RCV005630844

NM_018112.3(TMEM38B):c.748C>T (p.Pro250Ser)

SNV
Germline

Chr9:105773952

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta
not specified
TMEM38B-related disorder

Criteria Provided
Conflicting Classifications

CA5171001

rs_140157299

8 SubmittersRCV000889340 RCV002279614 RCV003226405 RCV003957920

NM_018112.3(TMEM38B):c.799G>A (p.Val267Ile)

SNV
Germline

Chr9:105774003

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
TMEM38B-related disorder
Osteogenesis imperfecta type 14

Criteria Provided
Conflicting Classifications

CA5171016

rs_149026877

7 SubmittersRCV000879300 RCV002536814 RCV003940375 RCV003653417

NM_052854.4(CREB3L1):c.599A>T (p.Asp200Val)

SNV
Germline

Chr11:46311035

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta type 16
CREB3L1-related disorder

Criteria Provided
Conflicting Classifications

CA5961637

rs_187725533

6 SubmittersRCV000881913 RCV001334433 RCV003920559

NM_001235.5(SERPINH1):c.1119C>T (p.Arg373=)

SNV
Germline

Chr11:75571945

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta type 10
SERPINH1-related disorder

Criteria Provided
Conflicting Classifications

CA6191018

rs_375913094

5 SubmittersRCV000890514 RCV001109026 RCV003975618

NM_001235.5(SERPINH1):c.160T>C (p.Leu54=)

SNV
Germline

Chr11:75566509

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta type 10

Criteria Provided
Conflicting Classifications

CA6190741

rs_540061657

2 SubmittersRCV000908135 RCV001108923

NM_021939.4(FKBP10):c.1290C>T (p.Leu430=)

SNV
Germline

Chr17:41820980

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta type 11
Osteogenesis imperfecta
not specified

Criteria Provided
Conflicting Classifications

CA8566607

rs_143450797

6 SubmittersRCV000908666 RCV001122386 RCV002279627 RCV004702517

NM_022167.4(XYLT2):c.2463C>T (p.Ser821=)

SNV
Germline

Chr17:50360156

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta
XYLT2-related disorder

Criteria Provided
Conflicting Classifications

CA8646742

rs_147148985

3 SubmittersRCV000895451 RCV002279617 RCV003950454

NM_000089.4(COL1A2):c.891+7A>T

SNV
Germline

Chr7:94409427

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA162919817

rs_1017077909

2 SubmittersRCV002235495 RCV003884800

NM_006129.5(BMP1):c.2847G>A (p.Ser949=)

SNV
Germline

Chr8:22211614

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta type 13
Osteogenesis imperfecta

Criteria Provided
Conflicting Classifications

CA4665397

rs_149176169

4 SubmittersRCV000924920 RCV001162187 RCV002279644

NM_001025295.3(IFITM5):c.190C>T (p.Arg64Ter)

SNV
Germline

Chr11:298710

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta type 5

Criteria Provided
Conflicting Classifications

CA5773429

rs_768779464

2 SubmittersRCV000920019 RCV005392549

NM_002335.4(LRP5):c.291C>T (p.Ala97=)

SNV
Germline

Chr11:68348046

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta
not specified

Criteria Provided
Conflicting Classifications

CA6148954

rs_146667935

8 SubmittersRCV000922284 RCV002279640 RCV003994167

NM_002335.4(LRP5):c.4227C>T (p.Arg1409=)

SNV
Germline

Chr11:68438561

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta

Criteria Provided
Conflicting Classifications

CA6150286

rs_536928726

2 SubmittersRCV000919405 RCV002279638

NM_021939.4(FKBP10):c.309C>T (p.Asp103=)

SNV
Germline

Chr17:41817121

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta

Criteria Provided
Conflicting Classifications

CA8566187

rs_199576301

2 SubmittersRCV000916420 RCV002279635

NM_006129.5(BMP1):c.2700C>T (p.Tyr900=)

SNV
Germline

Chr8:22209569

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta type 13

Criteria Provided
Conflicting Classifications

CA460171324

rs_1264208772

2 SubmittersRCV000943216 RCV001160573

NM_000478.6(ALPL):c.204G>A (p.Thr68=)

SNV
Germline

Chr1:21561119

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta

Criteria Provided
Conflicting Classifications

CA666432

rs_537814225

2 SubmittersRCV000977893 RCV002279679

NM_006129.5(BMP1):c.1938C>T (p.Tyr646=)

SNV
Germline

Chr8:22197251

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta type 13

Criteria Provided
Conflicting Classifications

CA4664902

rs_763299873

2 SubmittersRCV000983345 RCV001162108

NM_006129.5(BMP1):c.2487C>A (p.Pro829=)

SNV
Germline

Chr8:22207428

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta type 13
Osteogenesis imperfecta

Criteria Provided
Conflicting Classifications

CA4665269

rs_367978759

3 SubmittersRCV000976582 RCV001159221 RCV002279678

NM_000088.4(COL1A1):c.4030G>A (p.Asp1344Asn)

SNV
Germline

Chr17:50185996

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta type I
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA8644268

rs_371547661

3 SubmittersRCV000983956 RCV001428697 RCV002354889

NM_000088.4(COL1A1):c.2069C>T (p.Pro690Leu)

SNV
Germline

Chr17:50191846

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, arthrochalasia type

Criteria Provided
Conflicting Classifications

CA8644941

rs_760258050

3 SubmittersRCV000981759 RCV001455114 RCV005359713

NM_000089.4(COL1A2):c.1315G>T (p.Gly439Cys)

SNV
Germline

Chr7:94411119

Pathogenic

Osteogenesis imperfecta type I

No Assertion Criteria Provided

CA368221597

rs_1584320553

1 SubmittersRCV000984473

NM_000088.4(COL1A1):c.805-1G>A

SNV
Germline

Chr17:50196671

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400222719

rs_1598298699

2 SubmittersRCV000984474

NM_000088.4(COL1A1):c.1201-1G>A

SNV
Germline

Chr17:50195331

Pathogenic

Osteogenesis imperfecta
Osteogenesis imperfecta type I
Condition: not provided
Thyroid cancer, nonmedullary, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA291546694

rs_72648321

4 SubmittersRCV000984545 RCV001387572 RCV001784481 RCV005912104

NM_000089.4(COL1A2):c.2035G>A (p.Gly679Ser)

SNV
Germline

Chr7:94419507

Likely pathogenic

Ehlers-Danlos syndrome, classic type
Osteogenesis imperfecta, perinatal lethal

Criteria Provided
Multiple Submitters
No Conflicts

CA368223115

rs_1584325552

2 SubmittersRCV000987926 RCV001823173

NM_000088.4(COL1A1):c.1875+3G>T

SNV
Germline

Chr17:50192794

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type I
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA8645055

rs_138164489

5 SubmittersRCV000989946 RCV001726407 RCV002409320

NM_000088.4(COL1A1):c.958-1G>C

SNV
Germline

Chr17:50196200

Pathogenic/Likely pathogenic

Osteogenesis imperfecta type I
Osteogenesis imperfecta

Criteria Provided
Multiple Submitters
No Conflicts

CA400221498

rs_72645352

2 SubmittersRCV000989948 RCV002279683

NM_000088.4(COL1A1):c.725G>T (p.Gly242Val)

SNV
Unknown

Chr17:50197205

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400224221

rs_72645315

1 SubmittersRCV000989950

NM_000088.4(COL1A1):c.358C>T (p.Arg120Ter)

SNV
Germline

Chr17:50199429

Pathogenic

Osteogenesis imperfecta type I
Osteogenesis imperfecta type III
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA400227637

rs_762979302

5 SubmittersRCV000989951 RCV002250711 RCV003128733

NM_000089.4(COL1A2):c.3772C>T (p.Arg1258Cys)

SNV
Germline

Chr7:94429248

Conflicting classifications of pathogenicity

Condition: not provided
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA4347853

rs_766273613

5 SubmittersRCV000991602 RCV001858737 RCV003160118

NM_000088.4(COL1A1):c.299-1G>A

SNV
Germline

Chr17:50199591

Pathogenic

Condition: not provided
Osteogenesis imperfecta type I

Criteria Provided
Multiple Submitters
No Conflicts

CA400227953

rs_1598301619

3 SubmittersRCV000991595 RCV005092988

NM_000089.4(COL1A2):c.2309C>T (p.Pro770Leu)

SNV
Germline

Chr7:94421022

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
Cardiovascular phenotype
COL1A2-related disorder
7 conditions
not specified

Criteria Provided
Conflicting Classifications

CA4347385

rs_149858889

8 SubmittersRCV000998845 RCV002236008 RCV002445154 RCV003943312 RCV005047177 RCV005912267

NM_000088.4(COL1A1):c.3556C>G (p.Pro1186Ala)

SNV
Germline

Chr17:50186898

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, arthrochalasia type
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA8644395

rs_766461654

7 SubmittersRCV000996575 RCV001307345 RCV002471007 RCV004994175

NM_000088.4(COL1A1):c.1718C>G (p.Ala573Gly)

SNV
Germline

Chr17:50193992

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Osteogenesis imperfecta type I

Criteria Provided
Conflicting Classifications

CA400215360

rs_1457362728

3 SubmittersRCV000996577 RCV005540228 RCV006464929

NM_182943.3(PLOD2):c.1280A>G (p.Asn427Ser)

SNV
Germline

Chr3:146081816

Conflicting classifications of pathogenicity

Bruck syndrome 2
Condition: not provided
Osteogenesis imperfecta

Criteria Provided
Conflicting Classifications

CA84513472

rs_893004444

4 SubmittersRCV000995609 RCV001858817 RCV005438050

NM_000089.4(COL1A2):c.3088G>A (p.Gly1030Ser)

SNV
Germline

Chr7:94426513

Pathogenic

Osteogenesis imperfecta with normal sclerae, dominant form

Criteria Provided
Single Submitter

CA368225243

rs_1584330396

1 SubmittersRCV000995714

NM_021939.4(FKBP10):c.942T>C (p.Asn314=)

SNV
Germline

Chr17:41819554

Conflicting classifications of pathogenicity

not specified
Osteogenesis imperfecta type 11
Osteogenesis imperfecta
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8566436

rs_376553350

4 SubmittersRCV001002571 RCV001128130 RCV002279702 RCV002068797

NM_021939.4(FKBP10):c.1256C>T (p.Ser419Leu)

SNV
Germline

Chr17:41820461

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Osteogenesis imperfecta
FKBP10-related disorder

Criteria Provided
Conflicting Classifications

CA8566548

rs_146422412

9 SubmittersRCV001000309 RCV001460849 RCV002279698 RCV003906141

NM_000088.4(COL1A1):c.2829+1G>A

SNV
Germline

Chr17:50189376

Pathogenic

not specified
Osteogenesis imperfecta type I

Criteria Provided
Multiple Submitters
No Conflicts

CA291543183

rs_72653156

2 SubmittersRCV001002497 RCV001869431

NM_000088.4(COL1A1):c.2110G>A (p.Gly704Ser)

SNV
Germline

Chr17:50191805

Pathogenic

Osteogenesis imperfecta type I
Condition: not provided
Osteogenesis imperfecta, perinatal lethal
Osteogenesis imperfecta type III

Criteria Provided
Multiple Submitters
No Conflicts

CA291544042

rs_67368147

6 SubmittersRCV001385147 RCV001547154 RCV001822862 RCV005604801

NM_000088.4(COL1A1):c.1715G>C (p.Gly572Ala)

SNV
Germline

Chr17:50193995

Likely pathogenic

not specified
Osteogenesis imperfecta type I

Criteria Provided
Multiple Submitters
No Conflicts

CA400215378

rs_1598295066

2 SubmittersRCV001001278 RCV005093018

NM_000088.4(COL1A1):c.1922G>T (p.Gly641Val)

SNV
Germline

Chr17:50192647

Pathogenic

Osteogenesis imperfecta, perinatal lethal

No Assertion Criteria Provided

CA400213648

rs_1598293646

1 SubmittersRCV001003413

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_000089.4(COL1A2):c.335G>A (p.Gly112Asp)

SNV
Germline

Chr7:94404703

Pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Single Submitter

CA368219541

rs_1791759246

1 SubmittersRCV002239315

NM_000089.4(COL1A2):c.353G>T (p.Gly118Val)

SNV
Germline

Chr7:94404721

Pathogenic

Condition: not provided
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA368219580

rs_72656358

2 SubmittersRCV001563459 RCV002239314

NM_000089.4(COL1A2):c.541G>A (p.Gly181Arg)

SNV
Germline

Chr7:94406250

Likely pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Single Submitter

CA368220003

rs_1791793058

1 SubmittersRCV002240331

NM_000089.4(COL1A2):c.1270G>A (p.Gly424Ser)

SNV
Germline

Chr7:94411074

Pathogenic

Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA162921953

rs_72658112

3 SubmittersRCV002240378 RCV005232094

NM_000089.4(COL1A2):c.1289G>A (p.Gly430Glu)

SNV
Germline

Chr7:94411093

Pathogenic

Ehlers-Danlos syndrome, classic type
Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA368221545

rs_1791913210

1 SubmittersRCV001066906

NM_000089.4(COL1A2):c.1583A>G (p.Asn528Ser)

SNV
Germline

Chr7:94413715

Conflicting classifications of pathogenicity

Condition: not provided
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA4347124

rs_41317144

5 SubmittersRCV001811631 RCV002240325 RCV005540248 RCV005418969

NM_000089.4(COL1A2):c.1915A>G (p.Ser639Gly)

SNV
Germline

Chr7:94417775

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Ehlers-Danlos syndrome, cardiac valvular type
Ehlers-Danlos syndrome, arthrochalasia type
Osteogenesis imperfecta type I
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Conflicting Classifications

CA4347230

rs_766541995

3 SubmittersRCV004994220 RCV005429046 RCV002240366

NM_000089.4(COL1A2):c.2188G>A (p.Gly730Ser)

SNV
Germline

Chr7:94420541

Pathogenic

Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA368223433

rs_72658171

1 SubmittersRCV002240267

NM_000089.4(COL1A2):c.2305G>T (p.Gly769Cys)

SNV
Germline

Chr7:94421018

Pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta, perinatal lethal

Criteria Provided
Multiple Submitters
No Conflicts

CA368223673

rs_1792147522

2 SubmittersRCV002239310 RCV002249643

NM_000089.4(COL1A2):c.2341G>C (p.Gly781Arg)

SNV
Germline

Chr7:94421054

Pathogenic

Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA368223738

rs_1792149726

1 SubmittersRCV002239349

NM_000089.4(COL1A2):c.2422G>A (p.Gly808Ser)

SNV
Germline

Chr7:94422975

Pathogenic

Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA368223903

rs_763053421

1 SubmittersRCV002239383

NM_000089.4(COL1A2):c.2791G>A (p.Gly931Arg)

SNV
Germline

Chr7:94425619

Pathogenic

Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA368224624

rs_1792256171

1 SubmittersRCV002240622

NM_000089.4(COL1A2):c.3250G>T (p.Gly1084Cys)

SNV
Germline

Chr7:94427278

Pathogenic/Likely pathogenic

Condition: not provided
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
7 conditions
Ehlers-Danlos syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA368225575

rs_1792298693

4 SubmittersRCV004720054 RCV002240229 RCV004796357 RCV002298860

NM_002335.4(LRP5):c.1738G>A (p.Val580Ile)

SNV
Germline

Chr11:68403636

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta

Criteria Provided
Conflicting Classifications

CA6149420

rs_149524398

4 SubmittersRCV001043932 RCV002276599

NM_000088.4(COL1A1):c.4321G>C (p.Asp1441His)

SNV
Germline

Chr17:50185576

Pathogenic/Likely pathogenic

Osteogenesis imperfecta type I
Condition: not provided
Osteogenesis imperfecta with normal sclerae, dominant form

Criteria Provided
Multiple Submitters
No Conflicts

CA400190398

rs_72656351

3 SubmittersRCV001055118 RCV004792685 RCV005604802

NM_000088.4(COL1A1):c.4163T>C (p.Leu1388Pro)

SNV
Germline

Chr17:50185863

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400191803

rs_72656348

1 SubmittersRCV001044363

NM_000088.4(COL1A1):c.3821A>C (p.Tyr1274Ser)

SNV
Germline

Chr17:50186501

Likely pathogenic

Osteogenesis imperfecta type I
Osteogenesis imperfecta type III

Criteria Provided
Multiple Submitters
No Conflicts

CA400194005

rs_1906537608

2 SubmittersRCV001056673 RCV005438938

NM_000088.4(COL1A1):c.3652G>A (p.Ala1218Thr)

SNV
Germline

Chr17:50186802

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Multiple Submitters
No Conflicts

CA291542881

rs_72656337

4 SubmittersRCV001058312

NM_000088.4(COL1A1):c.3451G>A (p.Gly1151Ser)

SNV
Germline

Chr17:50187095

Pathogenic

Osteogenesis imperfecta type I
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA291542913

rs_72656320

2 SubmittersRCV001059157 RCV005630862

NM_000088.4(COL1A1):c.2704G>A (p.Gly902Ser)

SNV
Germline

Chr17:50189502

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400205966

rs_1906874191

1 SubmittersRCV001035598

NM_000088.4(COL1A1):c.2155G>T (p.Gly719Cys)

SNV
Germline

Chr17:50191463

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400211335

rs_72651645

1 SubmittersRCV001048795

NM_000088.4(COL1A1):c.1732G>A (p.Gly578Ser)

SNV
Germline

Chr17:50193978

Likely pathogenic

Osteogenesis imperfecta type I
Osteogenesis imperfecta

Criteria Provided
Multiple Submitters
No Conflicts

CA400215281

rs_1907330109

2 SubmittersRCV001054858 RCV003117728

NM_000088.4(COL1A1):c.1492G>A (p.Ala498Thr)

SNV
Germline

Chr17:50194596

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type I
Osteogenesis imperfecta
Infantile cortical hyperostosis
Condition: not provided
Ehlers-Danlos syndrome, arthrochalasia type
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA291545371

rs_1051473344

5 SubmittersRCV001058869 RCV001121991 RCV001121992 RCV001090964 RCV001121993 RCV002393283 RCV005236572

NM_000088.4(COL1A1):c.1454G>C (p.Gly485Ala)

SNV
Germline

Chr17:50194728

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400217616

rs_1907418203

1 SubmittersRCV001071028

NM_000088.4(COL1A1):c.1301G>C (p.Gly434Ala)

SNV
Germline

Chr17:50195099

Likely pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400218611

rs_72648333

1 SubmittersRCV001070529

NM_000088.4(COL1A1):c.952C>T (p.Pro318Ser)

SNV
Germline

Chr17:50196319

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type I
Condition: not provided

Criteria Provided
Conflicting Classifications

CA400221602

rs_1273349782

2 SubmittersRCV001062855 RCV004773282

NM_000088.4(COL1A1):c.607G>A (p.Gly203Ser)

SNV
Germline

Chr17:50197984

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400225254

rs_72667030

1 SubmittersRCV001065490

NM_000088.4(COL1A1):c.391C>A (p.Arg131=)

SNV
Germline

Chr17:50199306

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type I
COL1A1-related osteogenesis imperfecta
Cardiovascular phenotype
COL1A1-related disorder

Criteria Provided
Conflicting Classifications

CA8645708

rs_776611767

4 SubmittersRCV001042968 RCV001352694 RCV002372774 RCV004553577

NM_000088.4(COL1A1):c.276T>A (p.Cys92Ter)

SNV
Germline

Chr17:50199775

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400228065

rs_1907921633

1 SubmittersRCV001042084

NM_000088.4(COL1A1):c.143A>G (p.His48Arg)

SNV
Germline

Chr17:50199908

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type I
Condition: not provided

Criteria Provided
Conflicting Classifications

CA400228597

rs_1273874412

2 SubmittersRCV001069144 RCV006455402

NM_000089.4(COL1A2):c.1764+1G>T

SNV
Germline

Chr7:94415271

Likely pathogenic

Ehlers-Danlos syndrome, classic type
Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA368222549

rs_72658140

1 SubmittersRCV001065085

NM_000089.4(COL1A2):c.2674-3T>G

SNV
Germline

Chr7:94425114

Pathogenic

Ehlers-Danlos syndrome, classic type
Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA162939345

rs_72659303

1 SubmittersRCV001036610

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_006371.5(CRTAP):c.471+2C>T

SNV
Germline

Chr3:33114550

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type 7

Criteria Provided
Conflicting Classifications

CA352008924

rs_137853943

2 SubmittersRCV001051022

NM_000088.4(COL1A1):c.1821+1G>T

SNV
Germline

Chr17:50192993

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA291544534

rs_66555264

1 SubmittersRCV001051120

NM_000088.4(COL1A1):c.1768-1G>A

SNV
Germline

Chr17:50193048

Pathogenic

Osteogenesis imperfecta type I
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA291544582

rs_72648370

3 SubmittersRCV001039589 RCV001564365

NM_000088.4(COL1A1):c.103+5G>C

SNV
Germline

Chr17:50201406

Likely pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA915940909

rs_1555575835

1 SubmittersRCV001037422

NM_000088.4(COL1A1):c.103+2T>C

SNV
Germline

Chr17:50201409

Pathogenic

Osteogenesis imperfecta type I
Osteogenesis imperfecta

Criteria Provided
Multiple Submitters
No Conflicts

CA400230027

rs_1908083033

2 SubmittersRCV001065489 RCV003994205

NM_000088.4(COL1A1):c.2452-1G>A

SNV
Germline

Chr17:50190109

Pathogenic

Osteogenesis imperfecta type I
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA291543313

rs_72651667

2 SubmittersRCV001067208 RCV003325541

NM_000088.4(COL1A1):c.2128-1G>A

SNV
Germline

Chr17:50191491

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA291543993

rs_67543897

1 SubmittersRCV001061299

NM_000088.4(COL1A1):c.750+2T>C

SNV
Germline

Chr17:50197178

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400224069

rs_1907669327

1 SubmittersRCV001051200

NM_000089.4(COL1A2):c.2565+1G>C

SNV
Germline

Chr7:94423119

Pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Single Submitter

CA368224171

rs_72658198

1 SubmittersRCV002240406

NM_000088.4(COL1A1):c.2128-1G>T

SNV
Germline

Chr17:50191491

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400211485

rs_67543897

1 SubmittersRCV001048044

NM_000088.4(COL1A1):c.4248+2T>C

SNV
Germline

Chr17:50185776

Pathogenic

Osteogenesis imperfecta type I
Osteogenesis imperfecta type III

Criteria Provided
Multiple Submitters
No Conflicts

CA400191113

rs_112274185

2 SubmittersRCV001056827 RCV005629587

NM_000088.4(COL1A1):c.3531+5G>A

SNV
Germline

Chr17:50187010

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA291542900

rs_72656327

1 SubmittersRCV001052756

NM_000088.4(COL1A1):c.3369+1G>A

SNV
Germline

Chr17:50187875

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400199468

rs_1906695650

1 SubmittersRCV001072096

NM_000088.4(COL1A1):c.859-2A>G

SNV
Germline

Chr17:50196530

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400222324

rs_72645338

1 SubmittersRCV001063643

NM_000088.4(COL1A1):c.543+5G>A

SNV
Germline

Chr17:50198428

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA916081213

rs_1907787005

1 SubmittersRCV001054386

NM_000089.4(COL1A2):c.910G>A (p.Gly304Ser)

SNV
Germline

Chr7:94409582

Pathogenic/Likely pathogenic

Osteogenesis imperfecta
Abnormality of the skeletal system
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA162920010

rs_1054264002

5 SubmittersRCV001260280 RCV001814270 RCV002240729 RCV002375009 RCV004726873

NM_000089.4(COL1A2):c.1081G>T (p.Gly361Cys)

SNV
Germline

Chr7:94410287

Pathogenic/Likely pathogenic

Osteogenesis imperfecta
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Multiple Submitters
No Conflicts

CA368221108

rs_1791894410

2 SubmittersRCV001260281 RCV003769010

NM_002615.7(SERPINF1):c.808G>T (p.Gly270Ter)

SNV
Germline

Chr17:1776553

Pathogenic

Osteogenesis imperfecta
Osteogenesis imperfecta type 6

Criteria Provided
Multiple Submitters
No Conflicts

CA286851287

rs_369314029

2 SubmittersRCV001260289 RCV005225223

NM_000088.4(COL1A1):c.2569G>T (p.Gly857Cys)

SNV
Germline

Chr17:50189903

Pathogenic/Likely pathogenic

Osteogenesis imperfecta
Osteogenesis imperfecta type I

Criteria Provided
Multiple Submitters
No Conflicts

CA291543270

rs_72653141

3 SubmittersRCV001260270 RCV002471036

NM_000088.4(COL1A1):c.1112G>C (p.Gly371Ala)

SNV
Germline

Chr17:50195610

Pathogenic/Likely pathogenic

Osteogenesis imperfecta
Osteogenesis imperfecta type I

Criteria Provided
Multiple Submitters
No Conflicts

CA400219862

rs_1907512918

2 SubmittersRCV001260265 RCV005093450

NM_000088.4(COL1A1):c.992C>T (p.Ala331Val)

SNV
Germline

Chr17:50196165

Conflicting classifications of pathogenicity

Osteogenesis imperfecta
Condition: not provided
Osteogenesis imperfecta type I

Criteria Provided
Conflicting Classifications

CA291547129

rs_762653813

4 SubmittersRCV001260274 RCV001759859 RCV003631174

NM_000088.4(COL1A1):c.3370-1G>C

SNV
Germline

Chr17:50187538

Pathogenic

Osteogenesis imperfecta

Criteria Provided
Single Submitter

CA291542965

rs_112042777

1 SubmittersRCV001260269

NM_000088.4(COL1A1):c.1002+5G>T

SNV
Germline

Chr17:50196150

Likely pathogenic

Osteogenesis imperfecta

Criteria Provided
Single Submitter

CA1139665709

rs_1907566530

1 SubmittersRCV001260273

NM_000089.4(COL1A2):c.1424G>T (p.Gly475Val)

SNV
Germline

Chr7:94412603

Likely pathogenic

Osteogenesis imperfecta type I

No Assertion Criteria Provided

CA368221830

rs_1791951769

1 SubmittersRCV001089658

NM_000088.4(COL1A1):c.572G>T (p.Gly191Val)

SNV
Germline

Chr17:50198177

Likely pathogenic

Osteogenesis imperfecta type I

No Assertion Criteria Provided

CA400225592

rs_67828806

1 SubmittersRCV001089659

NM_000089.4(COL1A2):c.2072G>A (p.Gly691Asp)

SNV
Germline

Chr7:94419544

Likely pathogenic

Osteogenesis imperfecta type I

No Assertion Criteria Provided

CA368223183

rs_1792108270

1 SubmittersRCV001089660

NM_000088.4(COL1A1):c.2829+1G>C

SNV
Germline

Chr17:50189376

Pathogenic

Condition: not provided
Osteogenesis imperfecta type I

Criteria Provided
Multiple Submitters
No Conflicts

CA400205357

rs_72653156

3 SubmittersRCV001090960 RCV002555943

NM_000088.4(COL1A1):c.2398-1G>A

SNV
Germline

Chr17:50190381

Pathogenic

Condition: not provided
Osteogenesis imperfecta type I

Criteria Provided
Multiple Submitters
No Conflicts

CA400208015

rs_193922147

2 SubmittersRCV001090961 RCV005093456

NM_000088.4(COL1A1):c.1984-6C>A

SNV
Germline

Chr17:50192030

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta type I

Criteria Provided
Conflicting Classifications

CA8644974

rs_373873548

2 SubmittersRCV001090962 RCV001862685

NM_000089.4(COL1A2):c.752C>T (p.Ser251Phe)

SNV
Germline

Chr7:94408783

Likely pathogenic

Osteogenesis imperfecta with normal sclerae, dominant form

No Assertion Criteria Provided

CA368220455

rs_1387151592

1 SubmittersRCV001261877

NM_000089.4(COL1A2):c.758G>T (p.Gly253Val)

SNV
Germline

Chr7:94408789

Pathogenic

Osteogenesis imperfecta with normal sclerae, dominant form
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA368220466

rs_72656385

2 SubmittersRCV001261878 RCV005213454

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

3 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_001235.5(SERPINH1):c.588C>T (p.Asp196=)

SNV
Germline

Chr11:75566937

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type 10
Condition: not provided

Criteria Provided
Conflicting Classifications

CA475721140

rs_1232634716

2 SubmittersRCV001113294 RCV006465393

NM_001235.5(SERPINH1):c.1059C>T (p.His353=)

SNV
Germline

Chr11:75571885

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type 10
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6191006

rs_199548932

3 SubmittersRCV001109025 RCV001811661

NM_001235.5(SERPINH1):c.1152C>T (p.Ala384=)

SNV
Germline

Chr11:75571978

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type 10
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6191032

rs_368586977

2 SubmittersRCV001109027 RCV002556130

NM_000942.5(PPIB):c.444C>T (p.Asn148=)

SNV
Germline

Chr15:64156809

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type 9
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7608479

rs_549542551

2 SubmittersRCV001118291 RCV005056902

NM_000942.5(PPIB):c.-9C>G

SNV
Germline

Chr15:64162995

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type 9
Osteogenesis imperfecta
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7608648

rs_367616150

4 SubmittersRCV001121803 RCV002276628 RCV006453542 RCV006446026

NM_000942.5(PPIB):c.528+14G>A

SNV
Germline

Chr15:64156711

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type 9
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7608461

rs_776724565

2 SubmittersRCV001118290 RCV002558170

NM_000942.5(PPIB):c.249+12G>A

SNV
Germline

Chr15:64162029

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type 9
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7608557

rs_202059751

2 SubmittersRCV001119818 RCV002069945

NM_002615.7(SERPINF1):c.15G>T (p.Val5=)

SNV
Germline

Chr17:1766925

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type 6
Condition: not provided
Osteogenesis imperfecta

Criteria Provided
Conflicting Classifications

CA8274501

rs_139841572

4 SubmittersRCV001125366 RCV001577619 RCV002276631

NM_002615.7(SERPINF1):c.42C>T (p.Leu14=)

SNV
Germline

Chr17:1766952

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type 6
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8274505

rs_781013736

2 SubmittersRCV001125367 RCV002070045

NM_002615.7(SERPINF1):c.392C>A (p.Ala131Asp)

SNV
Germline

Chr17:1771137

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type 6
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA8274665

rs_148005190

5 SubmittersRCV001127453 RCV001759890 RCV006455453

NM_021939.4(FKBP10):c.393G>A (p.Ala131=)

SNV
Germline

Chr17:41818090

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type 11
Osteogenesis imperfecta
FKBP10-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8566233

rs_573350587

4 SubmittersRCV001125050 RCV002276630 RCV003938476 RCV003117771

NM_021939.4(FKBP10):c.491C>T (p.Pro164Leu)

SNV
Germline

Chr17:41818188

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type 11
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8566254

rs_117897485

2 SubmittersRCV001125052 RCV002070037

NM_021939.4(FKBP10):c.522C>T (p.Gly174=)

SNV
Germline

Chr17:41818219

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type 11
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8566266

rs_782350228

2 SubmittersRCV001126028 RCV003546636

NM_021939.4(FKBP10):c.591G>A (p.Lys197=)

SNV
Germline

Chr17:41818391

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type 11
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8566305

rs_782308119

2 SubmittersRCV001126029 RCV003679039

NM_021939.4(FKBP10):c.792G>A (p.Pro264=)

SNV
Germline

Chr17:41819274

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type 11
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8566363

rs_782789538

2 SubmittersRCV001126031 RCV002070060

NM_021939.4(FKBP10):c.1308C>T (p.Ile436=)

SNV
Germline

Chr17:41820998

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type 11
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8566612

rs_782781776

2 SubmittersRCV001122387 RCV002069995

NM_021939.4(FKBP10):c.1323G>A (p.Thr441=)

SNV
Germline

Chr17:41821013

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type 11
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8566615

rs_782332252

2 SubmittersRCV001122388 RCV003769187

NM_000088.4(COL1A1):c.*1027G>T

SNV
Germline

Chr17:50184475

Conflicting classifications of pathogenicity

Osteogenesis imperfecta
Ehlers-Danlos syndrome, arthrochalasia type
Infantile cortical hyperostosis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA291542624

rs_200882287

2 SubmittersRCV001128603 RCV001128601 RCV001128602 RCV001779120

NM_000088.4(COL1A1):c.*1011T>C

SNV
Germline

Chr17:50184491

Conflicting classifications of pathogenicity

Infantile cortical hyperostosis
Ehlers-Danlos syndrome, arthrochalasia type
Osteogenesis imperfecta
Condition: not provided

Criteria Provided
Conflicting Classifications

CA291542630

rs_1061970

2 SubmittersRCV001122905 RCV001122904 RCV001128604 RCV001615120

NM_000088.4(COL1A1):c.*836C>T

SNV
Germline

Chr17:50184666

Conflicting classifications of pathogenicity

Infantile cortical hyperostosis
Osteogenesis imperfecta
Ehlers-Danlos syndrome, arthrochalasia type

Criteria Provided
Conflicting Classifications

CA291542656

rs_527358320

1 SubmittersRCV001123975 RCV001123977 RCV001123976

NM_000088.4(COL1A1):c.*548C>A

SNV
Germline

Chr17:50184954

Conflicting classifications of pathogenicity

Ehlers-Danlos syndrome, arthrochalasia type
Infantile cortical hyperostosis
Osteogenesis imperfecta

Criteria Provided
Conflicting Classifications

CA291542691

rs_557681960

1 SubmittersRCV001123014 RCV001123016 RCV001123015

NM_000088.4(COL1A1):c.*93A>G

SNV
Germline

Chr17:50185409

Conflicting classifications of pathogenicity

Osteogenesis imperfecta
Infantile cortical hyperostosis
Ehlers-Danlos syndrome, arthrochalasia type

Criteria Provided
Conflicting Classifications

CA291542743

rs_367971695

1 SubmittersRCV001123093 RCV001127151 RCV001127152

NM_000088.4(COL1A1):c.4276G>A (p.Val1426Met)

SNV
Germline

Chr17:50185621

Conflicting classifications of pathogenicity

Infantile cortical hyperostosis
Ehlers-Danlos syndrome, arthrochalasia type
Osteogenesis imperfecta

Criteria Provided
Conflicting Classifications

CA8644192

rs_763025405

1 SubmittersRCV001126860 RCV001126861 RCV001126862

NM_000088.4(COL1A1):c.3987C>T (p.Ser1329=)

SNV
Germline

Chr17:50186335

Conflicting classifications of pathogenicity

Infantile cortical hyperostosis
Ehlers-Danlos syndrome, arthrochalasia type
Osteogenesis imperfecta
Osteogenesis imperfecta type I
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA8644303

rs_756297543

4 SubmittersRCV001124277 RCV001124276 RCV001124278 RCV001856637 RCV005802027 RCV006453543

NM_000088.4(COL1A1):c.3755G>A (p.Arg1252His)

SNV
Germline

Chr17:50186699

Conflicting classifications of pathogenicity

Osteogenesis imperfecta
Infantile cortical hyperostosis
Ehlers-Danlos syndrome, arthrochalasia type
Ehlers-Danlos syndrome
Osteogenesis imperfecta type I
Cardiovascular phenotype
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA8644363

rs_371904584

6 SubmittersRCV001127362 RCV001127363 RCV001127364 RCV002276632 RCV001856661 RCV002348571 RCV003222227 RCV005236625

NM_000088.4(COL1A1):c.3619G>A (p.Glu1207Lys)

SNV
Germline

Chr17:50186835

Conflicting classifications of pathogenicity

Ehlers-Danlos syndrome, arthrochalasia type
Infantile cortical hyperostosis
Osteogenesis imperfecta
Cardiovascular phenotype
Osteogenesis imperfecta type I

Criteria Provided
Conflicting Classifications

CA8644388

rs_746671446

3 SubmittersRCV001123290 RCV001123292 RCV001123291 RCV002451330 RCV003631175

NM_000088.4(COL1A1):c.3247G>A (p.Ala1083Thr)

SNV
Germline

Chr17:50188110

Conflicting classifications of pathogenicity

Infantile cortical hyperostosis
Ehlers-Danlos syndrome, arthrochalasia type
Osteogenesis imperfecta
Osteogenesis imperfecta type I
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8644512

rs_372029024

4 SubmittersRCV001127483 RCV001127481 RCV001127482 RCV001219328 RCV003380850 RCV003480969

NM_000088.4(COL1A1):c.2796C>T (p.Gly932=)

SNV
Germline

Chr17:50189410

Conflicting classifications of pathogenicity

Infantile cortical hyperostosis
Osteogenesis imperfecta
Ehlers-Danlos syndrome, arthrochalasia type
Osteogenesis imperfecta type I

Criteria Provided
Conflicting Classifications

CA8644680

rs_746453576

2 SubmittersRCV001125489 RCV001125490 RCV001125491 RCV002556719

NM_000088.4(COL1A1):c.2424C>T (p.Pro808=)

SNV
Germline

Chr17:50190354

Conflicting classifications of pathogenicity

Ehlers-Danlos syndrome, arthrochalasia type
Infantile cortical hyperostosis
Osteogenesis imperfecta
Osteogenesis imperfecta type I
Cardiovascular phenotype
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA8644812

rs_369699409

6 SubmittersRCV001123491 RCV001123492 RCV001123493 RCV001494295 RCV002451332 RCV003736990 RCV005236621

NM_000088.4(COL1A1):c.1272C>T (p.Gly424=)

SNV
Germline

Chr17:50195259

Conflicting classifications of pathogenicity

Ehlers-Danlos syndrome, arthrochalasia type
Infantile cortical hyperostosis
Osteogenesis imperfecta
Osteogenesis imperfecta type I
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA8645326

rs_765154255

3 SubmittersRCV001125750 RCV001125751 RCV001125752 RCV002556724 RCV003283992

NM_000088.4(COL1A1):c.1045G>T (p.Val349Phe)

SNV
Germline

Chr17:50195934

Conflicting classifications of pathogenicity

Infantile cortical hyperostosis
Ehlers-Danlos syndrome, arthrochalasia type
Osteogenesis imperfecta
Osteogenesis imperfecta type I
Condition: not provided
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA8645423

rs_72645362

8 SubmittersRCV001122082 RCV001122083 RCV001122084 RCV001724251 RCV003480966 RCV004994255 RCV005436993

NM_000088.4(COL1A1):c.1017C>T (p.Pro339=)

SNV
Germline

Chr17:50195962

Conflicting classifications of pathogenicity

Ehlers-Danlos syndrome, arthrochalasia type
Osteogenesis imperfecta
Infantile cortical hyperostosis
Cardiovascular phenotype
Osteogenesis imperfecta type I
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8645429

rs_543735501

4 SubmittersRCV001124859 RCV001124860 RCV001124858 RCV002348569 RCV002070034 RCV003128813

NM_000088.4(COL1A1):c.-57G>A

SNV
Germline

Chr17:50201570

Conflicting classifications of pathogenicity

Ehlers-Danlos syndrome, arthrochalasia type
Osteogenesis imperfecta
Infantile cortical hyperostosis

Criteria Provided
Conflicting Classifications

CA291552574

rs_2734278

1 SubmittersRCV001125068 RCV001125069 RCV001125067

NM_000088.4(COL1A1):c.-98G>A

SNV
Germline

Chr17:50201611

Conflicting classifications of pathogenicity

Infantile cortical hyperostosis
Ehlers-Danlos syndrome, arthrochalasia type
Osteogenesis imperfecta
Condition: not provided

Criteria Provided
Conflicting Classifications

CA291552627

rs_574683904

2 SubmittersRCV001126040 RCV001126042 RCV001126041 RCV003145355

NM_002615.7(SERPINF1):c.997+12G>A

SNV
Germline

Chr17:1776754

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type 6
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA8274909

rs_376447025

3 SubmittersRCV001125454 RCV002070046 RCV004702646

NM_021939.4(FKBP10):c.1256+11G>A

SNV
Germline

Chr17:41820472

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type 11
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8566562

rs_199627092

2 SubmittersRCV001128131 RCV002556801

NM_021939.4(FKBP10):c.1256+11G>T

SNV
Germline

Chr17:41820472

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type 11
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8566564

rs_199627092

2 SubmittersRCV001128132 RCV002558258

NM_021939.4(FKBP10):c.1400-6C>T

SNV
Germline

Chr17:41821648

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type 11
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8566651

rs_782331462

2 SubmittersRCV001125168 RCV003769207

NM_000088.4(COL1A1):c.3815-10C>T

SNV
Germline

Chr17:50186517

Conflicting classifications of pathogenicity

Infantile cortical hyperostosis
Ehlers-Danlos syndrome, arthrochalasia type
Osteogenesis imperfecta
Osteogenesis imperfecta type I

Criteria Provided
Conflicting Classifications

CA8644331

rs_770568983

2 SubmittersRCV001126948 RCV001126946 RCV001126947 RCV002556768

NM_000088.4(COL1A1):c.1615-14C>T

SNV
Germline

Chr17:50194197

Conflicting classifications of pathogenicity

Ehlers-Danlos syndrome, arthrochalasia type
Osteogenesis imperfecta
Infantile cortical hyperostosis
Osteogenesis imperfecta type I
not specified

Criteria Provided
Conflicting Classifications

CA8645174

rs_190098788

3 SubmittersRCV001121987 RCV001127770 RCV001127771 RCV002069980 RCV006269300

NM_000088.4(COL1A1):c.1155+12C>T

SNV
Germline

Chr17:50195555

Conflicting classifications of pathogenicity

Ehlers-Danlos syndrome, arthrochalasia type
Infantile cortical hyperostosis
Osteogenesis imperfecta
Osteogenesis imperfecta type I

Criteria Provided
Conflicting Classifications

CA8645384

rs_774034198

2 SubmittersRCV001122080 RCV001122081 RCV001127855 RCV002069982

NM_006371.4(CRTAP):c.-101G>C

SNV
Germline

Chr3:33113977

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type 7
Condition: not provided

Criteria Provided
Conflicting Classifications

CA72698731

rs_189698814

2 SubmittersRCV001150537 RCV001568716

NM_006371.5(CRTAP):c.111A>G (p.Pro37=)

SNV
Germline

Chr3:33114188

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type 7
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2300197

rs_772038741

3 SubmittersRCV001144447 RCV001586004

NM_006371.5(CRTAP):c.376C>T (p.Leu126=)

SNV
Germline

Chr3:33114453

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type 7

Criteria Provided
Conflicting Classifications

CA2300258

rs_756961672

2 SubmittersRCV001144448

NM_006371.5(CRTAP):c.528T>G (p.Pro176=)

SNV
Germline

Chr3:33120400

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type 7

Criteria Provided
Conflicting Classifications

CA2300306

rs_774680682

2 SubmittersRCV001146351

NM_000089.4(COL1A2):c.114A>G (p.Arg38=)

SNV
Germline

Chr7:94399066

Conflicting classifications of pathogenicity

Osteogenesis imperfecta
Ehlers-Danlos syndrome, arthrochalasia type, 2
Cardiovascular phenotype
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Conflicting Classifications

CA456486227

rs_1462108134

3 SubmittersRCV001164424 RCV001164425 RCV002348587 RCV002559577

NM_000089.4(COL1A2):c.776G>C (p.Gly259Ala)

SNV
Germline

Chr7:94408807

Conflicting classifications of pathogenicity

Ehlers-Danlos syndrome, arthrochalasia type, 2
Osteogenesis imperfecta
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Conflicting Classifications

CA368220500

rs_1584318648

2 SubmittersRCV001160863 RCV001160864 RCV002558527

NM_000089.4(COL1A2):c.1089C>T (p.Pro363=)

SNV
Germline

Chr7:94410295

Conflicting classifications of pathogenicity

Osteogenesis imperfecta
Ehlers-Danlos syndrome, arthrochalasia type, 2
Cardiovascular phenotype
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Conflicting Classifications

CA4346929

rs_748961276

3 SubmittersRCV001160978 RCV001160977 RCV002445402 RCV001859042

NM_000089.4(COL1A2):c.1686T>A (p.Gly562=)

SNV
Germline

Chr7:94414242

Conflicting classifications of pathogenicity

Ehlers-Danlos syndrome, arthrochalasia type, 2
Osteogenesis imperfecta
Cardiovascular phenotype
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Conflicting Classifications

CA456488964

rs_1394933873

3 SubmittersRCV001159703 RCV001159704 RCV004032841 RCV003769767

NM_000089.4(COL1A2):c.2687C>T (p.Pro896Leu)

SNV
Germline

Chr7:94425130

Conflicting classifications of pathogenicity

Osteogenesis imperfecta
Ehlers-Danlos syndrome, arthrochalasia type, 2
Condition: not provided
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA4347535

rs_202068380

7 SubmittersRCV001159812 RCV001159813 RCV001575264 RCV002070973 RCV002429782 RCV005408717

NM_000089.4(COL1A2):c.3270C>G (p.Gly1090=)

SNV
Germline

Chr7:94427629

Conflicting classifications of pathogenicity

Osteogenesis imperfecta
Ehlers-Danlos syndrome, arthrochalasia type, 2
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Conflicting Classifications

CA456630225

rs_548761767

2 SubmittersRCV001164839 RCV001164838 RCV006557070

NM_000089.4(COL1A2):c.3870C>T (p.Val1290=)

SNV
Germline

Chr7:94429346

Conflicting classifications of pathogenicity

Osteogenesis imperfecta
Ehlers-Danlos syndrome, arthrochalasia type, 2
Ehlers-Danlos syndrome
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
Cardiovascular phenotype
COL1A2-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA162942190

rs_926855674

7 SubmittersRCV001164959 RCV001164960 RCV002276649 RCV002240740 RCV003163359 RCV003973119 RCV005639271

NM_000089.4(COL1A2):c.3954T>C (p.Ser1318=)

SNV
Germline

Chr7:94429430

Conflicting classifications of pathogenicity

Osteogenesis imperfecta
Ehlers-Danlos syndrome, arthrochalasia type, 2
COL1A2-related disorder
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Conflicting Classifications

CA4347882

rs_781599112

3 SubmittersRCV001160037 RCV001160038 RCV003938529 RCV006557067

NM_006129.5(BMP1):c.204A>G (p.Val68=)

SNV
Germline

Chr8:22173657

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4664190

rs_749485360

2 SubmittersRCV001164026 RCV003660863

NM_006129.5(BMP1):c.1044C>T (p.Cys348=)

SNV
Germline

Chr8:22180450

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type 13
Condition: not provided
Sarcoma

Criteria Provided
Conflicting Classifications

CA4664511

rs_149174555

3 SubmittersRCV001159120 RCV002070960 RCV005913968

NM_006129.5(BMP1):c.1804A>G (p.Ile602Val)

SNV
Germline

Chr8:22196718

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type 13
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4664858

rs_374534506

3 SubmittersRCV001162105 RCV002558548 RCV002558547

NM_006129.5(BMP1):c.2166C>T (p.Phe722=)

SNV
Germline

Chr8:22201861

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4665142

rs_149426277

3 SubmittersRCV001164122 RCV003727927

NM_006129.5(BMP1):c.2437G>A (p.Ala813Thr)

SNV
Germline

Chr8:22207378

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type 13
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4665247

rs_780689541

2 SubmittersRCV001159220 RCV004601376

NM_006129.5(BMP1):c.2730G>A (p.Glu910=)

SNV
Germline

Chr8:22209599

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type 13
Osteogenesis imperfecta
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4665346

rs_574472338

3 SubmittersRCV001160574 RCV002276648 RCV002559539

NM_006129.5(BMP1):c.2751C>T (p.Cys917=)

SNV
Germline

Chr8:22209620

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type 13
Condition: not provided
BMP1-related disorder

Criteria Provided
Conflicting Classifications

CA4665351

rs_376975956

3 SubmittersRCV001160575 RCV002070987 RCV003898156

NM_006129.5(BMP1):c.837-5T>C

SNV
Germline

Chr8:22179700

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA173493079

rs_369882085

2 SubmittersRCV001164028 RCV003769793

NM_006129.5(BMP1):c.1927-13G>A

SNV
Germline

Chr8:22197227

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4664897

rs_371954727

3 SubmittersRCV001162107 RCV002071010

NM_006129.5(BMP1):c.2575+12G>A

SNV
Germline

Chr8:22207528

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA580536003

rs_763277589

2 SubmittersRCV001159222 RCV002558407

NM_000089.4(COL1A2):c.785G>A (p.Gly262Asp)

SNV
Germline

Chr7:94408816

Pathogenic/Likely pathogenic

Condition: not provided
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I
Osteogenesis imperfecta type III

Criteria Provided
Multiple Submitters
No Conflicts

CA368220515

rs_1791858238

3 SubmittersRCV001171992 RCV001873587 RCV005627111

NM_000089.4(COL1A2):c.3527-4A>T

SNV
Germline

Chr7:94428289

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
not specified

Criteria Provided
Conflicting Classifications

CA162941493

rs_888826541

4 SubmittersRCV001171865 RCV002068054 RCV005432597

NM_000088.4(COL1A1):c.2182G>T (p.Gly728Ter)

SNV
Germline

Chr17:50191436

Pathogenic

Osteogenesis imperfecta type I

No Assertion Criteria Provided

CA400211105

rs_72651648

1 SubmittersRCV001175159

NM_000089.4(COL1A2):c.551G>A (p.Gly184Asp)

SNV
Germline

Chr7:94406260

Likely pathogenic

Osteogenesis imperfecta with normal sclerae, dominant form
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta

Criteria Provided
Multiple Submitters
No Conflicts

CA368220026

rs_1791793398

3 SubmittersRCV001198993 RCV005213505 RCV005626348

NM_000089.4(COL1A2):c.2306G>T (p.Gly769Val)

SNV
Unknown

Chr7:94421019

Likely pathogenic

Osteogenesis imperfecta with normal sclerae, dominant form

Criteria Provided
Single Submitter

CA162936472

rs_72658184

1 SubmittersRCV001198919

NM_000089.4(COL1A2):c.2629G>A (p.Gly877Ser)

SNV
Unknown

Chr7:94424399

Likely pathogenic

Osteogenesis imperfecta with normal sclerae, dominant form

Criteria Provided
Single Submitter

CA368224299

rs_72658201

1 SubmittersRCV001195841

NM_000088.4(COL1A1):c.1084G>A (p.Gly362Ser)

SNV
Germline

Chr17:50195638

Likely pathogenic

Osteogenesis imperfecta with normal sclerae, dominant form
Osteogenesis imperfecta type I

Criteria Provided
Multiple Submitters
No Conflicts

CA400220084

rs_1907516553

3 SubmittersRCV001196899 RCV003163499

NM_000088.4(COL1A1):c.727G>T (p.Glu243Ter)

SNV
Germline

Chr17:50197203

Pathogenic

Osteogenesis imperfecta with normal sclerae, dominant form
Osteogenesis imperfecta type I

Criteria Provided
Multiple Submitters
No Conflicts

CA400224214

rs_1907672538

2 SubmittersRCV001197453 RCV002560234

NM_000089.4(COL1A2):c.280-7T>C

SNV
Germline

Chr7:94404549

Conflicting classifications of pathogenicity

7 conditions
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4346614

rs_750868020

3 SubmittersRCV001257269 RCV002069366 RCV003738027

NM_000088.4(COL1A1):c.3532-12C>T

SNV
Germline

Chr17:50186934

Conflicting classifications of pathogenicity

Osteogenesis imperfecta with normal sclerae, dominant form
See cases
Osteogenesis imperfecta type I

Criteria Provided
Conflicting Classifications

CA8644407

rs_200458986

3 SubmittersRCV001196192 RCV002222199 RCV002560218

NM_000088.4(COL1A1):c.3045+11C>T

SNV
Germline

Chr17:50188892

Conflicting classifications of pathogenicity

Osteogenesis imperfecta with normal sclerae, dominant form
Osteogenesis imperfecta type I
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8644612

rs_201349683

3 SubmittersRCV001198572 RCV002559266 RCV006450901

NM_000089.4(COL1A2):c.767G>A (p.Gly256Asp)

SNV
Germline

Chr7:94408798

Pathogenic

Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA162918974

rs_67525025

1 SubmittersRCV002241151

NM_000089.4(COL1A2):c.1171G>T (p.Gly391Cys)

SNV
Germline

Chr7:94410501

Pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Single Submitter

CA162921173

rs_67707918

1 SubmittersRCV002241147

NM_000089.4(COL1A2):c.1459G>A (p.Gly487Arg)

SNV
Germline

Chr7:94412638

Pathogenic

Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA368221885

rs_1791952936

1 SubmittersRCV002241275

NM_000089.4(COL1A2):c.2296G>C (p.Gly766Arg)

SNV
Germline

Chr7:94421009

Pathogenic/Likely pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA368223653

rs_72658182

2 SubmittersRCV002241231 RCV005633948

NM_000089.4(COL1A2):c.3124G>A (p.Gly1042Ser)

SNV
Germline

Chr7:94427026

Pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Single Submitter

CA162940657

rs_72659327

1 SubmittersRCV002241257

NM_000089.4(COL1A2):c.3815G>T (p.Cys1272Phe)

SNV
Germline

Chr7:94429291

Pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Single Submitter

CA368226808

rs_1554398835

1 SubmittersRCV002241395

NM_000088.4(COL1A1):c.4237G>A (p.Asp1413Asn)

SNV
Germline

Chr17:50185789

Pathogenic/Likely pathogenic

Osteogenesis imperfecta type I
COL1A1-related disorder
Osteogenesis imperfecta

Criteria Provided
Multiple Submitters
No Conflicts

CA291542789

rs_72656349

3 SubmittersRCV001220617 RCV004548075 RCV004782670

NM_000088.4(COL1A1):c.1675G>A (p.Ala559Thr)

SNV
Germline

Chr17:50194035

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type I
Osteogenesis imperfecta
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8645139

rs_558173513

3 SubmittersRCV001219681 RCV002276664 RCV001587241

NM_000088.4(COL1A1):c.626G>C (p.Gly209Ala)

SNV
Germline

Chr17:50197965

Likely pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400225121

rs_1907746069

1 SubmittersRCV001214471

NM_000089.4(COL1A2):c.343G>A (p.Gly115Arg)

SNV
Germline

Chr7:94404711

Pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Single Submitter

CA368219561

rs_1791759301

1 SubmittersRCV002240935

NM_000089.4(COL1A2):c.2063G>A (p.Gly688Glu)

SNV
Germline

Chr7:94419535

Likely pathogenic

Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA368223166

rs_1792108068

1 SubmittersRCV002240948

NM_000089.4(COL1A2):c.2215G>A (p.Gly739Arg)

SNV
Germline

Chr7:94420568

Pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type

Criteria Provided
Single Submitter

CA162935983

rs_72658174

1 SubmittersRCV001203350

NM_000089.4(COL1A2):c.2746G>A (p.Gly916Arg)

SNV
Germline

Chr7:94425189

Pathogenic

Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA368224527

rs_72659308

1 SubmittersRCV002241076

NM_000089.4(COL1A2):c.3286G>A (p.Gly1096Ser)

SNV
Germline

Chr7:94427645

Pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type

Criteria Provided
Single Submitter

CA368225655

rs_1792308325

1 SubmittersRCV001202983

NM_000089.4(COL1A2):c.3740C>A (p.Ser1247Tyr)

SNV
Germline

Chr7:94429216

Conflicting classifications of pathogenicity

Condition: not provided
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA4347847

rs_763721360

3 SubmittersRCV001587230 RCV002241104 RCV002348703

NM_000088.4(COL1A1):c.4321G>A (p.Asp1441Asn)

SNV
Germline

Chr17:50185576

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type I
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA400190401

rs_72656351

3 SubmittersRCV001212241 RCV001508814 RCV003163610

NM_000088.4(COL1A1):c.3817G>T (p.Glu1273Ter)

SNV
Germline

Chr17:50186505

Pathogenic/Likely pathogenic

Osteogenesis imperfecta type I
Osteogenesis imperfecta with normal sclerae, dominant form
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA400194027

rs_1203106659

4 SubmittersRCV001206187 RCV001330772 RCV006450905

NM_000088.4(COL1A1):c.1270G>A (p.Gly424Ser)

SNV
Germline

Chr17:50195261

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type I
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA8645327

rs_750427423

4 SubmittersRCV001207893 RCV001310369 RCV005318646

NM_000089.4(COL1A2):c.432+1G>T

SNV
Germline

Chr7:94404893

Pathogenic

Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA368219749

rs_1554395431

1 SubmittersRCV002241409

NM_000089.4(COL1A2):c.1503+1G>A

SNV
Germline

Chr7:94412683

Pathogenic/Likely pathogenic

Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I
Osteogenesis imperfecta

Criteria Provided
Multiple Submitters
No Conflicts

CA368221979

rs_1554396615

2 SubmittersRCV002241155 RCV002276665

NM_000088.4(COL1A1):c.2830-3A>G

SNV
Germline

Chr17:50189278

Likely pathogenic

Osteogenesis imperfecta type I
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA1139665694

rs_1906853874

2 SubmittersRCV001218519 RCV006275066

NM_000088.4(COL1A1):c.543+5G>C

SNV
Germline

Chr17:50198428

Likely pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA1139665713

rs_1907787005

1 SubmittersRCV001219274

NM_000089.4(COL1A2):c.1089C>G (p.Pro363=)

SNV
Germline

Chr7:94410295

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I
not specified

Criteria Provided
Conflicting Classifications

CA456488489

rs_748961276

5 SubmittersRCV001796406 RCV002447186 RCV002563894 RCV006266652

NM_000089.4(COL1A2):c.2279G>T (p.Gly760Val)

SNV
Germline

Chr7:94420632

Likely pathogenic

Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA368223616

rs_1792140624

1 SubmittersRCV002241451

NM_000089.4(COL1A2):c.2944G>A (p.Gly982Ser)

SNV
Germline

Chr7:94425998

Pathogenic/Likely pathogenic

Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I
Osteogenesis imperfecta with normal sclerae, dominant form
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA368224949

rs_1792269292

3 SubmittersRCV002241594 RCV005627112 RCV005866882

NM_000088.4(COL1A1):c.4321G>T (p.Asp1441Tyr)

SNV
Germline

Chr17:50185576

Pathogenic

Osteogenesis imperfecta type I
COL1A1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA291542763

rs_72656351

2 SubmittersRCV001225554 RCV004548076

NM_000088.4(COL1A1):c.3824G>A (p.Trp1275Ter)

SNV
Germline

Chr17:50186498

Pathogenic

Osteogenesis imperfecta type I
COL1A1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA400193990

rs_1906536457

2 SubmittersRCV001237624 RCV005232203

NM_000088.4(COL1A1):c.2291G>C (p.Gly764Ala)

SNV
Germline

Chr17:50190869

Likely pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400210193

rs_72651657

1 SubmittersRCV001226870

NM_000088.4(COL1A1):c.2048G>C (p.Gly683Ala)

SNV
Germline

Chr17:50191867

Likely pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400211961

rs_1598292524

1 SubmittersRCV001236885

NM_000088.4(COL1A1):c.391C>T (p.Arg131Ter)

SNV
Germline

Chr17:50199306

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400227482

rs_776611767

1 SubmittersRCV001235657

NM_000089.4(COL1A2):c.830G>T (p.Gly277Val)

SNV
Germline

Chr7:94409359

Pathogenic

Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA368220611

rs_752431578

1 SubmittersRCV002241536

NM_000089.4(COL1A2):c.1820G>C (p.Gly607Ala)

SNV
Germline

Chr7:94416460

Likely pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type

Criteria Provided
Single Submitter

CA368222666

rs_1792043985

1 SubmittersRCV001240952

NM_000089.4(COL1A2):c.1837G>A (p.Gly613Arg)

SNV
Germline

Chr7:94416477

Likely pathogenic

Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA368222699

rs_1792044352

2 SubmittersRCV002241549 RCV003399010

NM_000089.4(COL1A2):c.2252G>T (p.Gly751Val)

SNV
Germline

Chr7:94420605

Pathogenic

Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA368223566

rs_1792139807

1 SubmittersRCV002241786

NM_000088.4(COL1A1):c.290A>G (p.Asp97Gly)

SNV
Germline

Chr17:50199761

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type I
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8645793

rs_758351823

2 SubmittersRCV001245549 RCV004590276

NM_000088.4(COL1A1):c.3100-1G>A

SNV
Germline

Chr17:50188638

Pathogenic

Osteogenesis imperfecta type I
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA400202892

rs_1906773628

2 SubmittersRCV001225334 RCV004590248

NM_000088.4(COL1A1):c.2236-1G>C

SNV
Germline

Chr17:50190925

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400210520

rs_1907020116

1 SubmittersRCV001229866

NM_000089.4(COL1A2):c.3305G>C (p.Gly1102Ala)

SNV
Germline

Chr7:94427664

Pathogenic/Likely pathogenic

Osteogenesis imperfecta with normal sclerae, dominant form
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA368225688

rs_68063264

2 SubmittersRCV001253080 RCV002451621

NM_000088.4(COL1A1):c.3128G>C (p.Gly1043Ala)

SNV
Germline

Chr17:50188609

Likely pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400201310

rs_1906767501

1 SubmittersRCV001253008

NM_000088.4(COL1A1):c.904-1G>C

SNV
Germline

Chr17:50196368

Likely pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400221921

rs_1907593112

1 SubmittersRCV001253294

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_052854.4(CREB3L1):c.911C>T (p.Ala304Val)

SNV
Germline

Chr11:46312619

Pathogenic

Osteogenesis imperfecta type 16

No Assertion Criteria Provided

CA380221807

rs_1939508698

1 SubmittersRCV001262123

NM_000088.4(COL1A1):c.1461+2T>G

SNV
Germline

Chr17:50194719

Pathogenic/Likely pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Multiple Submitters
No Conflicts

CA400217585

rs_1907417140

2 SubmittersRCV001262604

NM_000088.4(COL1A1):c.1004G>A (p.Gly335Asp)

SNV
Germline

Chr17:50195975

Likely pathogenic

Osteogenesis imperfecta, perinatal lethal

Criteria Provided
Single Submitter

CA400221096

rs_1907549643

1 SubmittersRCV001263481

NM_000089.4(COL1A2):c.2819G>T (p.Gly940Val)

SNV
Germline

Chr7:94425647

Pathogenic

Condition: not provided
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I
Osteogenesis imperfecta type III

Criteria Provided
Multiple Submitters
No Conflicts

CA368224683

rs_1792257312

4 SubmittersRCV001269734 RCV002542860 RCV005627113

NM_006854.4(KDELR2):c.34C>G (p.His12Asp)

SNV
Germline

Chr7:6484024

Conflicting classifications of pathogenicity

Osteogenesis imperfecta, type 21
Condition: not provided

No Assertion Criteria Provided

CA366781726

rs_1785976222

3 SubmittersRCV001270696 RCV001573365

NM_006854.4(KDELR2):c.360G>A (p.Trp120Ter)

SNV
Germline

Chr7:6466315

Pathogenic

Osteogenesis imperfecta, type 21

No Assertion Criteria Provided

CA366776692

rs_1785503102

1 SubmittersRCV001270698

NM_021939.4(FKBP10):c.918-6T>G

SNV
Unknown

Chr17:41819524

Likely pathogenic

Osteogenesis imperfecta type 11

Criteria Provided
Single Submitter

CA1139665523

rs_2047862318

1 SubmittersRCV001270800

NM_000088.4(COL1A1):c.2074G>A (p.Gly692Ser)

SNV
Germline

Chr17:50191841

Likely pathogenic

Osteogenesis imperfecta, perinatal lethal

No Assertion Criteria Provided

CA400211840

rs_1907108266

1 SubmittersRCV001280841

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_000089.4(COL1A2):c.1541G>C (p.Gly514Ala)

SNV
Germline

Chr7:94413120

Pathogenic/Likely pathogenic

Condition: not provided
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I
COL1A2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA368222068

rs_1791962073

4 SubmittersRCV001813162 RCV003770450 RCV004727077

NM_000088.4(COL1A1):c.1247G>T (p.Gly416Val)

SNV
Germline

Chr17:50195284

Pathogenic/Likely pathogenic

Condition: not provided
Osteogenesis imperfecta

Criteria Provided
Multiple Submitters
No Conflicts

CA400218790

rs_1135401953

2 SubmittersRCV001812983 RCV003128164

NM_000088.4(COL1A1):c.1094G>T (p.Gly365Val)

SNV
Germline

Chr17:50195628

Pathogenic/Likely pathogenic

Condition: not provided
Osteogenesis imperfecta, perinatal lethal
Osteogenesis imperfecta type III
Osteogenesis imperfecta type I
Osteogenesis imperfecta with normal sclerae, dominant form
Osteogenesis imperfecta, perinatal lethal
COL1A1-related disorder
Osteogenesis imperfecta type I

Criteria Provided
Multiple Submitters
No Conflicts

CA291546893

rs_66494876

5 SubmittersRCV001812395 RCV002222200 RCV003235539 RCV004548123 RCV006466216

NM_000088.4(COL1A1):c.3585T>C (p.Gly1195=)

SNV
Germline

Chr17:50186869

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta type I

Criteria Provided
Conflicting Classifications

CA500991805

rs_1906585690

2 SubmittersRCV001289260 RCV002543002

NM_000088.4(COL1A1):c.64G>C (p.Gly22Arg)

SNV
Germline

Chr17:50201450

Pathogenic

Wiedemann-Rautenstrauch-like progeroid syndrome
Osteogenesis imperfecta type I
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA291552447

rs_72667007

3 SubmittersRCV001291257 RCV002543013 RCV005437055

NM_000088.4(COL1A1):c.3531+4T>C

SNV
Germline

Chr17:50187011

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type I
8 conditions
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8644425

rs_145251615

5 SubmittersRCV001306247 RCV002486194 RCV004034085 RCV004692458

NM_000088.4(COL1A1):c.2773C>G (p.Pro925Ala)

SNV
Germline

Chr17:50189433

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8644685

rs_772929903

4 SubmittersRCV001298078 RCV001333193 RCV001565654

NM_000088.4(COL1A1):c.1087T>C (p.Ser363Pro)

SNV
Germline

Chr17:50195635

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type I
Condition: not provided

Criteria Provided
Conflicting Classifications

CA400220072

rs_1207868159

2 SubmittersRCV001306644 RCV003145542

NM_006371.5(CRTAP):c.471+4A>G

SNV
Germline

Chr3:33114552

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type 7
not specified

Criteria Provided
Conflicting Classifications

CA72699875

rs_549296015

3 SubmittersRCV001325046 RCV004587121

NM_006371.5(CRTAP):c.1153-3C>G

SNV
Germline

Chr3:33142392

Pathogenic

Osteogenesis imperfecta type 7
Ovarian cancer

Criteria Provided
Single Submitter

CA2300521

rs_201554363

2 SubmittersRCV001318996 RCV005911030

NM_000089.4(COL1A2):c.980G>A (p.Arg327His)

SNV
Germline

Chr7:94409766

Conflicting classifications of pathogenicity

Condition: not provided
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I
not specified

Criteria Provided
Conflicting Classifications

CA4346900

rs_764174111

5 SubmittersRCV001567795 RCV002242262 RCV005236798

NM_000088.4(COL1A1):c.3985A>T (p.Ser1329Cys)

SNV
Germline

Chr17:50186337

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type I
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA8644304

rs_778077946

2 SubmittersRCV001312787 RCV004034266

NM_000088.4(COL1A1):c.2235+5G>T

SNV
Germline

Chr17:50191378

Likely pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA2263916615

rs_1907061034

1 SubmittersRCV001320405

NM_000088.4(COL1A1):c.2005G>A (p.Ala669Thr)

SNV
Germline

Chr17:50192003

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8644967

rs_563598815

5 SubmittersRCV001321934 RCV002276691 RCV002418966 RCV003145567

NM_000088.4(COL1A1):c.1109G>A (p.Arg370His)

SNV
Germline

Chr17:50195613

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type I
Cardiovascular phenotype
Ehlers-Danlos syndrome, arthrochalasia type
Osteogenesis imperfecta with normal sclerae, dominant form
Osteogenesis imperfecta, perinatal lethal
Osteogenesis imperfecta type III
Osteogenesis imperfecta type I
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8645393

rs_750756697

4 SubmittersRCV001327713 RCV002438756 RCV004546634 RCV005255677

NM_000089.4(COL1A2):c.1352G>A (p.Gly451Asp)

SNV
Germline

Chr7:94412069

Pathogenic

Osteogenesis imperfecta, perinatal lethal

No Assertion Criteria Provided

CA368221683

rs_2115902583

1 SubmittersRCV001644993

NM_000089.4(COL1A2):c.604G>A (p.Gly202Ser)

SNV
Unknown

Chr7:94407856

Likely pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA368220141

rs_72656376

1 SubmittersRCV001330973

NM_000089.4(COL1A2):c.776G>A (p.Gly259Asp)

SNV
Germline

Chr7:94408807

Pathogenic/Likely pathogenic

Osteogenesis imperfecta type I
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA368220499

rs_1584318648

2 SubmittersRCV001330974 RCV004797934

NM_018112.3(TMEM38B):c.543-10T>G

SNV
Germline

Chr9:105748063

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type 14
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5170928

rs_778527358

2 SubmittersRCV001330816 RCV002070166

NM_000088.4(COL1A1):c.644G>T (p.Gly215Val)

SNV
Germline

Chr17:50197784

Likely pathogenic

Osteogenesis imperfecta type I
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA400224862

rs_1907723511

3 SubmittersRCV001330773 RCV005634069

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_000089.4(COL1A2):c.2324G>A (p.Gly775Glu)

SNV
Germline

Chr7:94421037

Pathogenic/Likely pathogenic

Ehlers-Danlos syndrome, arthrochalasia type, 2
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA368223704

rs_1792148801

2 SubmittersRCV001333194 RCV002546615

NM_006129.5(BMP1):c.962-18C>G

SNV
Germline

Chr8:22180350

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4664495

rs_200412717

2 SubmittersRCV001335380 RCV002070201

NM_000091.5(COL4A3):c.4664C>T (p.Ala1555Val)

SNV
Germline

Chr2:227309227

Conflicting classifications of pathogenicity

Condition: not provided
Alport syndrome
COL4A3-related disorder
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive
Osteogenesis imperfecta
Autosomal dominant Alport syndrome

Criteria Provided
Conflicting Classifications

CA2147603

rs_369575989

9 SubmittersRCV001348296 RCV001831140 RCV004743417 RCV005023072 RCV005863426 RCV006605337

NM_000088.4(COL1A1):c.3754C>T (p.Arg1252Cys)

SNV
Germline

Chr17:50186700

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type I
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8644364

rs_781614679

2 SubmittersRCV001340843 RCV002222701

NM_000088.4(COL1A1):c.1861C>A (p.Pro621Thr)

SNV
Germline

Chr17:50192811

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type I
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA8645057

rs_764186905

3 SubmittersRCV001341098 RCV002261347 RCV005408847

NM_000088.4(COL1A1):c.1522G>A (p.Ala508Thr)

SNV
Germline

Chr17:50194441

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type I
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA8645200

rs_752150906

6 SubmittersRCV001343148 RCV001762577 RCV004995694

NM_000088.4(COL1A1):c.1161C>A (p.Asn387Lys)

SNV
Germline

Chr17:50195473

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type I
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA291546801

rs_899337697

2 SubmittersRCV001344238 RCV002357186

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

SNV
Germline

Chr1:42755543

Pathogenic/Likely pathogenic

Osteogenesis imperfecta type 8
P3H1-related disorder
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA801951

rs_72659353

4 SubmittersRCV001371301 RCV003405619 RCV005912558

NM_000089.4(COL1A2):c.1439T>C (p.Ile480Thr)

SNV
Germline

Chr7:94412618

Conflicting classifications of pathogenicity

Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4347062

rs_568201784

2 SubmittersRCV002242521 RCV004720868

NM_000088.4(COL1A1):c.4081G>C (p.Glu1361Gln)

SNV
Germline

Chr17:50185945

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type I
Condition: not provided
COL1A1-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA8644258

rs_141011435

4 SubmittersRCV001365637 RCV001762634 RCV004738271 RCV005911279

NM_000088.4(COL1A1):c.3975G>T (p.Trp1325Cys)

SNV
Germline

Chr17:50186347

Likely pathogenic

Osteogenesis imperfecta type I
Osteogenesis imperfecta with normal sclerae, dominant form

Criteria Provided
Multiple Submitters
No Conflicts

CA400193156

rs_2144534276

2 SubmittersRCV001373665 RCV005438984

NM_000089.4(COL1A2):c.317G>A (p.Gly106Glu)

SNV
Germline

Chr7:94404593

Likely pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Single Submitter

CA368219494

rs_2115875189

1 SubmittersRCV002242784

NM_000089.4(COL1A2):c.731G>T (p.Gly244Val)

SNV
Germline

Chr7:94408373

Likely pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Single Submitter

CA368220406

rs_1584318303

1 SubmittersRCV002242774

NM_000089.4(COL1A2):c.1388G>C (p.Gly463Ala)

SNV
Germline

Chr7:94412105

Pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Single Submitter

CA368221750

rs_2115902837

1 SubmittersRCV002242770

NM_000089.4(COL1A2):c.2603G>C (p.Gly868Ala)

SNV
Germline

Chr7:94424373

Pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Single Submitter

CA368224252

rs_2115946426

1 SubmittersRCV002242879

NM_000089.4(COL1A2):c.3170G>A (p.Gly1057Asp)

SNV
Germline

Chr7:94427198

Pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Single Submitter

CA368225423

rs_2115957747

1 SubmittersRCV002242779

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_000089.4(COL1A2):c.821G>A (p.Gly274Asp)

SNV
Germline

Chr7:94409350

Pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Single Submitter

CA162919535

rs_67675951

1 SubmittersRCV002242820

NM_000089.4(COL1A2):c.857G>C (p.Gly286Ala)

SNV
Germline

Chr7:94409386

Pathogenic/Likely pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta

Criteria Provided
Multiple Submitters
No Conflicts

CA162919692

rs_67210352

2 SubmittersRCV002242821 RCV002225133

NM_000089.4(COL1A2):c.1045G>A (p.Gly349Ser)

SNV
Germline

Chr7:94410251

Pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta with normal sclerae, dominant form

Criteria Provided
Multiple Submitters
No Conflicts

CA162920756

rs_66773001

2 SubmittersRCV002242822 RCV005627114

NM_000089.4(COL1A2):c.1981G>T (p.Gly661Cys)

SNV
Germline

Chr7:94418508

Pathogenic

Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA368223002

rs_72658152

2 SubmittersRCV002242823 RCV005630938

NM_000089.4(COL1A2):c.2215G>C (p.Gly739Arg)

SNV
Germline

Chr7:94420568

Pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Single Submitter

CA368223486

rs_72658174

1 SubmittersRCV002242992

NM_000089.4(COL1A2):c.2413G>T (p.Gly805Cys)

SNV
Germline

Chr7:94422966

Pathogenic

Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA162937933

rs_72658190

1 SubmittersRCV002242851

NM_000089.4(COL1A2):c.2755G>A (p.Gly919Ser)

SNV
Germline

Chr7:94425198

Pathogenic/Likely pathogenic

Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I
Condition: not provided
Cardiovascular phenotype
Ehlers-Danlos syndrome, arthrochalasia type
Ehlers-Danlos syndrome, cardiac valvular type
Osteogenesis imperfecta
COL1A2-related disorder
Osteogenesis imperfecta, perinatal lethal
Osteogenesis imperfecta with normal sclerae, dominant form
Osteogenesis imperfecta type III
Ehlers-Danlos syndrome, arthrochalasia type, 2

Criteria Provided
Multiple Submitters
No Conflicts

CA4347547

rs_749621872

9 SubmittersRCV002242882 RCV002307738 RCV002438886 RCV002508960 RCV004743444 RCV004796620 RCV005408883

NM_000089.4(COL1A2):c.3238C>T (p.Arg1080Ter)

SNV
Germline

Chr7:94427266

Pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Single Submitter

CA4347707

rs_780395429

1 SubmittersRCV002242803

NM_000088.4(COL1A1):c.3910C>T (p.Gln1304Ter)

SNV
Germline

Chr17:50186412

Pathogenic

Osteogenesis imperfecta type I
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA400193527

rs_2144534686

2 SubmittersRCV001387168 RCV004699359

NM_000088.4(COL1A1):c.3569G>A (p.Gly1190Asp)

SNV
Germline

Chr17:50186885

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400198223

rs_2144537730

1 SubmittersRCV001382247

NM_000088.4(COL1A1):c.3531+1G>C

SNV
Germline

Chr17:50187014

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400198471

rs_72656326

1 SubmittersRCV001382248

NM_000088.4(COL1A1):c.3470G>A (p.Gly1157Asp)

SNV
Germline

Chr17:50187076

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA291542911

rs_72656323

1 SubmittersRCV001389975

NM_000088.4(COL1A1):c.3385C>T (p.Gln1129Ter)

SNV
Germline

Chr17:50187522

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400199332

rs_2144540723

1 SubmittersRCV001387169

NM_000088.4(COL1A1):c.2678G>C (p.Gly893Ala)

SNV
Germline

Chr17:50189528

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400206066

rs_2144550692

1 SubmittersRCV001381575

NM_000088.4(COL1A1):c.2584A>T (p.Lys862Ter)

SNV
Germline

Chr17:50189888

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400207295

rs_2144552243

1 SubmittersRCV001388491

NM_000088.4(COL1A1):c.2235+1G>C

SNV
Germline

Chr17:50191382

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400210708

rs_1114167390

2 SubmittersRCV001381923

NM_000088.4(COL1A1):c.2101G>A (p.Gly701Ser)

SNV
Germline

Chr17:50191814

Pathogenic/Likely pathogenic

Osteogenesis imperfecta type I
Osteogenesis imperfecta type III
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA291544045

rs_68114505

5 SubmittersRCV001385148 RCV002250757 RCV003332338

NM_000088.4(COL1A1):c.1981C>T (p.Gln661Ter)

SNV
Germline

Chr17:50192477

Pathogenic

Osteogenesis imperfecta type I
COL1A1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA291544208

rs_72651631

2 SubmittersRCV001385149 RCV005866996

NM_000088.4(COL1A1):c.1804G>T (p.Gly602Ter)

SNV
Germline

Chr17:50193011

Pathogenic

Osteogenesis imperfecta type I
Osteogenesis imperfecta with normal sclerae, dominant form

Criteria Provided
Multiple Submitters
No Conflicts

CA400214906

rs_72651615

2 SubmittersRCV001387610 RCV002283548

NM_000088.4(COL1A1):c.1614+1G>A

SNV
Germline

Chr17:50194348

Pathogenic

Osteogenesis imperfecta type I
Postmenopausal osteoporosis

Criteria Provided
Multiple Submitters
No Conflicts

CA291545215

rs_72648357

2 SubmittersRCV001387571 RCV001526509

NM_000088.4(COL1A1):c.1003G>A (p.Gly335Ser)

SNV
Germline

Chr17:50195976

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400221101

rs_2144579011

1 SubmittersRCV001388124

NM_000088.4(COL1A1):c.976G>C (p.Gly326Arg)

SNV
Germline

Chr17:50196181

Pathogenic/Likely pathogenic

Osteogenesis imperfecta type I
Condition: not provided
Osteogenesis imperfecta, perinatal lethal

Criteria Provided
Multiple Submitters
No Conflicts

CA400221365

rs_72645355

4 SubmittersRCV001388662 RCV001664862 RCV001542694

NM_000088.4(COL1A1):c.958-1G>A

SNV
Germline

Chr17:50196200

Pathogenic/Likely pathogenic

Osteogenesis imperfecta type I
Osteogenesis imperfecta with normal sclerae, dominant form

Criteria Provided
Multiple Submitters
No Conflicts

CA291547148

rs_72645352

3 SubmittersRCV001385345 RCV004770137

NM_000088.4(COL1A1):c.814G>A (p.Gly272Ser)

SNV
Germline

Chr17:50196661

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400222668

rs_72645331

1 SubmittersRCV001383972

NM_000088.4(COL1A1):c.642+2T>A

SNV
Germline

Chr17:50197947

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400224995

rs_2144586769

1 SubmittersRCV001387639

NM_000088.4(COL1A1):c.595C>T (p.Gln199Ter)

SNV
Germline

Chr17:50197996

Pathogenic

Osteogenesis imperfecta type I
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA400225347

rs_2144587073

2 SubmittersRCV001386077 RCV001563408

NM_002335.4(LRP5):c.2046T>C (p.Phe682=)

SNV
Germline

Chr11:68406768

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta
8 conditions
LRP5-related disorder

Criteria Provided
Conflicting Classifications

CA6149514

rs_61740517

4 SubmittersRCV001417575 RCV002276729 RCV002499896 RCV004743468

NM_000089.4(COL1A2):c.3233G>A (p.Gly1078Asp)

SNV
Germline

Chr7:94427261

Pathogenic

Dentinogenesis imperfecta
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA162940814

rs_72659332

2 SubmittersRCV001779169 RCV001882531

NM_002335.4(LRP5):c.1992C>T (p.Asn664=)

SNV
Germline

Chr11:68406714

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta

Criteria Provided
Conflicting Classifications

CA6149501

rs_760151423

2 SubmittersRCV001440604 RCV002276735

NM_002335.4(LRP5):c.2829G>A (p.Pro943=)

SNV
Germline

Chr11:68416329

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta
Severe early-childhood-onset retinal dystrophy

Criteria Provided
Conflicting Classifications

CA6149775

rs_201018263

6 SubmittersRCV001430997 RCV002276734 RCV005626428

NM_002335.4(LRP5):c.3427+7G>A

SNV
Germline

Chr11:68425299

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta

Criteria Provided
Conflicting Classifications

CA6149973

rs_756825499

2 SubmittersRCV001427082 RCV002276733

NM_006854.4(KDELR2):c.13C>T (p.Arg5Trp)

SNV
Germline

Chr7:6484045

Pathogenic

Osteogenesis imperfecta, type 21

No Assertion Criteria Provided

CA366781790

rs_1265005474

1 SubmittersRCV001449582

NM_006854.4(KDELR2):c.485A>G (p.Tyr162Cys)

SNV
Germline

Chr7:6466190

Pathogenic

Osteogenesis imperfecta, type 21

No Assertion Criteria Provided

CA366775982

rs_1785499146

1 SubmittersRCV001449583

NM_000089.4(COL1A2):c.1113T>C (p.Pro371=)

SNV
Germline

Chr7:94410443

Conflicting classifications of pathogenicity

Condition: not provided
Ehlers-Danlos syndrome
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA162921100

rs_547506739

5 SubmittersRCV001581134 RCV002276738 RCV002237182 RCV002439063

NM_002335.4(LRP5):c.4791G>C (p.Glu1597Asp)

SNV
Germline

Chr11:68449013

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6150516

rs_142508112

4 SubmittersRCV001473951 RCV002276745 RCV004988646

NM_000088.4(COL1A1):c.2452-4C>T

SNV
Germline

Chr17:50190112

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type I
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2499224726

rs_1267688094

2 SubmittersRCV001457840 RCV005256802

NM_002335.4(LRP5):c.4550A>G (p.Tyr1517Cys)

SNV
Germline

Chr11:68446497

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta

Criteria Provided
Conflicting Classifications

CA6150423

rs_201030241

3 SubmittersRCV001482361 RCV002276746

NM_000089.4(COL1A2):c.3196G>A (p.Gly1066Ser)

SNV
Germline

Chr7:94427224

Pathogenic/Likely pathogenic

Condition: not provided
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA368225477

rs_1269193853

2 SubmittersRCV001507703 RCV006557478

NM_000088.4(COL1A1):c.4213C>T (p.Arg1405Cys)

SNV
Germline

Chr17:50185813

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta type I

Criteria Provided
Conflicting Classifications

CA400191518

rs_1279465588

2 SubmittersRCV001508815 RCV006467570

NM_006371.5(CRTAP):c.167G>A (p.Ser56Asn)

SNV
Germline

Chr3:33114244

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type 7
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2300217

rs_571617130

2 SubmittersRCV001510965 RCV006434479

NM_002335.4(LRP5):c.91+9G>C

SNV
Germline

Chr11:68312814

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta
8 conditions
LRP5-related disorder

Criteria Provided
Conflicting Classifications

CA6148892

rs_569517144

7 SubmittersRCV001519114 RCV002276755 RCV002501818 RCV003908857

NM_021939.4(FKBP10):c.391+4A>T

SNV
Germline

Chr17:41817207

Likely pathogenic

Osteogenesis imperfecta type 11

Criteria Provided
Single Submitter

CA2499224317

rs_2144052934

1 SubmittersRCV001526492

NM_000089.4(COL1A2):c.326G>T (p.Gly109Val)

SNV
Germline

Chr7:94404694

Likely pathogenic

Osteogenesis imperfecta, perinatal lethal

No Assertion Criteria Provided

CA368219524

rs_1114167416

1 SubmittersRCV001542467

NM_000088.4(COL1A1):c.3046-1G>T

SNV
Germline

Chr17:50188796

Pathogenic

Osteogenesis imperfecta, perinatal lethal

No Assertion Criteria Provided

CA291543085

rs_67965462

1 SubmittersRCV001542610

NM_005430.4(WNT1):c.1007C>T (p.Thr336Met)

SNV
Germline

Chr12:48981534

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta

Criteria Provided
Conflicting Classifications

CA6544496

rs_148154047

4 SubmittersRCV001553544 RCV002276781

NM_002615.7(SERPINF1):c.998-1G>A

SNV
Germline

Chr17:1777186

Likely pathogenic

Osteogenesis imperfecta

Criteria Provided
Single Submitter

CA8274932

rs_772728968

1 SubmittersRCV001553763

NM_005430.4(WNT1):c.*9G>A

SNV
Germline

Chr12:48981649

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta

Criteria Provided
Conflicting Classifications

CA6544505

rs_201599168

2 SubmittersRCV001558901 RCV002276787

NM_000088.4(COL1A1):c.3656A>G (p.Asp1219Gly)

SNV
Germline

Chr17:50186798

Pathogenic/Likely pathogenic

Condition: not provided
Osteogenesis imperfecta type I
Osteogenesis imperfecta with normal sclerae, dominant form

Criteria Provided
Multiple Submitters
No Conflicts

CA400197440

rs_2144537008

3 SubmittersRCV001554917 RCV002032604 RCV005604806

NM_000088.4(COL1A1):c.859-1G>A

SNV
Germline

Chr17:50196529

Pathogenic

Condition: not provided
Osteogenesis imperfecta type I

Criteria Provided
Multiple Submitters
No Conflicts

CA291547324

rs_72645339

2 SubmittersRCV001554895 RCV002032603

NM_000088.4(COL1A1):c.1694C>T (p.Pro565Leu)

SNV
Germline

Chr17:50194016

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta type I
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA8645133

rs_764989002

3 SubmittersRCV001561842 RCV001859393 RCV005802200

NM_000089.4(COL1A2):c.792G>A (p.Lys264=)

SNV
Germline

Chr7:94408823

Pathogenic

Condition: not provided
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA456488237

rs_2115890442

2 SubmittersRCV001565416 RCV003771724

NM_000089.4(COL1A2):c.1972G>T (p.Gly658Cys)

SNV
Germline

Chr7:94418499

Pathogenic

Condition: not provided
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA368222986

rs_2115924247

2 SubmittersRCV001569741 RCV006557545

NM_000088.4(COL1A1):c.336A>T (p.Gly112=)

SNV
Germline

Chr17:50199451

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta type I
Congenital heart disease
Cardiovascular phenotype
not specified
COL1A1-related disorder

Criteria Provided
Conflicting Classifications

CA8645739

rs_749946056

7 SubmittersRCV001569333 RCV002072194 RCV001839049 RCV002458536 RCV005917651 RCV004551921

NM_000088.4(COL1A1):c.133C>G (p.Leu45Val)

SNV
Germline

Chr17:50199918

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, arthrochalasia type
not specified

Criteria Provided
Conflicting Classifications

CA8645825

rs_546629502

5 SubmittersRCV001577889 RCV004995952 RCV002569095 RCV005361677 RCV006266864

NM_000088.4(COL1A1):c.3261+1G>A

SNV
Germline

Chr17:50188095

Pathogenic/Likely pathogenic

Condition: not provided
Osteogenesis imperfecta, perinatal lethal

Criteria Provided
Multiple Submitters
No Conflicts

CA400200005

rs_2144543339

2 SubmittersRCV001583097 RCV002290726

NM_000088.4(COL1A1):c.4005+4C>T

SNV
Germline

Chr17:50186313

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta type I

Criteria Provided
Conflicting Classifications

CA8644298

rs_528349466

2 SubmittersRCV001584725 RCV002569111

NM_005430.4(WNT1):c.506G>A (p.Gly169Asp)

SNV
Germline

Chr12:48980571

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta
WNT1-related disorder
Inborn genetic diseases
Osteogenesis imperfecta type 15
OSTEOPOROSIS, EARLY-ONSET, SUSCEPTIBILITY TO

Criteria Provided
Conflicting Classifications

CA6544409

rs_371672410

7 SubmittersRCV001586557 RCV002276822 RCV003416401 RCV002569120 RCV005005975

NM_006129.5(BMP1):c.239G>A (p.Arg80His)

SNV
Germline

Chr8:22173692

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Osteogenesis imperfecta
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4664197

rs_73549580

5 SubmittersRCV001593893 RCV001844303 RCV002276834 RCV002579483

NM_000089.4(COL1A2):c.2206G>T (p.Gly736Cys)

SNV
Germline

Chr7:94420559

Pathogenic

Condition: not provided
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta
Osteogenesis imperfecta with normal sclerae, dominant form

Criteria Provided
Multiple Submitters
No Conflicts

CA162935974

rs_72658173

4 SubmittersRCV001596536 RCV001882741 RCV002222719 RCV005627115

NM_000089.4(COL1A2):c.1774G>A (p.Gly592Ser)

SNV
Germline

Chr7:94416414

Pathogenic

Condition: not provided
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I
Osteogenesis imperfecta, perinatal lethal

Criteria Provided
Multiple Submitters
No Conflicts

CA162929043

rs_72658141

5 SubmittersRCV001596844 RCV001866248 RCV005861247

NM_000088.4(COL1A1):c.3806G>A (p.Trp1269Ter)

SNV
Germline

Chr17:50186648

Pathogenic/Likely pathogenic

Condition: not provided
Osteogenesis imperfecta type I

Criteria Provided
Multiple Submitters
No Conflicts

CA291542865

rs_72656341

2 SubmittersRCV001596868 RCV001866249

NM_000089.4(COL1A2):c.1847G>A (p.Gly616Glu)

SNV
Germline

Chr7:94416487

Pathogenic/Likely pathogenic

Condition: not provided
Osteogenesis imperfecta type III

Criteria Provided
Multiple Submitters
No Conflicts

CA368222717

rs_1554397133

2 SubmittersRCV001596905 RCV003883697

NM_000089.4(COL1A2):c.2701G>T (p.Gly901Cys)

SNV
Germline

Chr7:94425144

Likely pathogenic

Condition: not provided
Osteogenesis imperfecta with normal sclerae, dominant form

Criteria Provided
Multiple Submitters
No Conflicts

CA368224443

rs_72659306

2 SubmittersRCV001596918 RCV002243318

NM_000089.4(COL1A2):c.2504G>A (p.Gly835Asp)

SNV
Germline

Chr7:94423057

Likely pathogenic

Condition: not provided
Osteogenesis imperfecta with normal sclerae, dominant form

Criteria Provided
Multiple Submitters
No Conflicts

CA368224053

rs_2115941300

2 SubmittersRCV001597497 RCV004595622

NM_001199.4(BMP1):c.2191T>C (p.Ter731Arg)

SNV
Germline

Chr8:22201201

Likely pathogenic

Osteogenesis imperfecta type 13

Criteria Provided
Single Submitter

CA370503587

rs_2131895772

1 SubmittersRCV001619777

NM_000088.4(COL1A1):c.2519C>T (p.Pro840Leu)

SNV
Germline

Chr17:50190041

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta type I
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA8644782

rs_748149807

5 SubmittersRCV001665197 RCV001873827 RCV004039550

NM_000088.4(COL1A1):c.1177C>T (p.Gln393Ter)

SNV
Germline

Chr17:50195457

Pathogenic/Likely pathogenic

Condition: not provided
Osteogenesis imperfecta type I
8 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA400219155

rs_2144576822

3 SubmittersRCV001658929 RCV001882757 RCV002495986

NM_000089.4(COL1A2):c.1159G>C (p.Ala387Pro)

SNV
Germline

Chr7:94410489

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA162921141

rs_972825197

4 SubmittersRCV001663539 RCV002032651 RCV005320836

NM_001025295.3(IFITM5):c.-3C>T

SNV
Germline

Chr11:299493

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta

Criteria Provided
Conflicting Classifications

CA597017744

rs_1362690516

2 SubmittersRCV001682152 RCV002276859

NM_006129.5(BMP1):c.965G>A (p.Cys322Tyr)

SNV
Germline

Chr8:22180371

Likely pathogenic

Osteogenesis imperfecta type 13

Criteria Provided
Single Submitter

CA370543831

rs_2131855526

1 SubmittersRCV002073405

NM_006371.5(CRTAP):c.470A>G (p.Lys157Arg)

SNV
Germline

Chr3:33114547

Pathogenic

Osteogenesis imperfecta type 7

Criteria Provided
Single Submitter

CA352008919

rs_2125596197

1 SubmittersRCV002073407

NM_002615.7(SERPINF1):c.278C>A (p.Ser93Ter)

SNV
Germline

Chr17:1770045

Pathogenic

Condition: not provided
Osteogenesis imperfecta type 6

Criteria Provided
Multiple Submitters
No Conflicts

CA397584294

rs_369973630

2 SubmittersRCV002032701 RCV002073408

NM_002615.7(SERPINF1):c.907C>T (p.Arg303Ter)

SNV
Germline

Chr17:1776652

Pathogenic/Likely pathogenic

Osteogenesis imperfecta type 6
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA8274887

rs_763291398

4 SubmittersRCV001728120 RCV003718420

NM_018112.3(TMEM38B):c.662T>C (p.Ile221Thr)

SNV
Germline

Chr9:105773866

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type 14
Condition: not provided
Osteogenesis imperfecta

Criteria Provided
Conflicting Classifications

CA5170986

rs_201882609

4 SubmittersRCV001728180 RCV002073410 RCV002276872

NM_005430.4(WNT1):c.617G>A (p.Gly206Asp)

SNV
Unknown

Chr12:48980682

Likely pathogenic

Osteogenesis imperfecta type 15

Criteria Provided
Single Submitter

CA384632791

rs_2137624585

1 SubmittersRCV001729995

NM_002615.7(SERPINF1):c.601G>A (p.Asp201Asn)

SNV
Germline

Chr17:1772033

Conflicting classifications of pathogenicity

not specified
Osteogenesis imperfecta type 6
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8274748

rs_137997656

4 SubmittersRCV001733381 RCV001803392 RCV002073981

NM_000089.4(COL1A2):c.3676G>A (p.Val1226Ile)

SNV
Germline

Chr7:94428442

Conflicting classifications of pathogenicity

Condition: not provided
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I
COL1A2-related disorder
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA4347813

rs_777501717

4 SubmittersRCV001733430 RCV002538720 RCV004743567 RCV004995980

NM_000089.4(COL1A2):c.2621G>C (p.Gly874Ala)

SNV
Germline

Chr7:94424391

Likely pathogenic

Osteogenesis imperfecta with normal sclerae, dominant form
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA368224285

rs_2115946490

2 SubmittersRCV001733874 RCV006451029

NM_000088.4(COL1A1):c.1429C>G (p.Pro477Ala)

SNV
Germline

Chr17:50194753

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta type I

Criteria Provided
Conflicting Classifications

CA400217710

rs_1268011878

2 SubmittersRCV001762784 RCV003631215

NM_000088.4(COL1A1):c.1664C>G (p.Pro555Arg)

SNV
Germline

Chr17:50194134

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta type I
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA291545113

rs_72648359

3 SubmittersRCV001756582 RCV002032772 RCV003365443

NM_000088.4(COL1A1):c.790A>T (p.Met264Leu)

SNV
Germline

Chr17:50197024

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta type I

Criteria Provided
Conflicting Classifications

CA8645553

rs_374947065

2 SubmittersRCV001762945 RCV002032784

NM_000088.4(COL1A1):c.1072C>G (p.Gln358Glu)

SNV
Germline

Chr17:50195650

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta type I

Criteria Provided
Conflicting Classifications

CA8645399

rs_749024135

2 SubmittersRCV001770806 RCV001882872

NM_000088.4(COL1A1):c.61C>T (p.His21Tyr)

SNV
Germline

Chr17:50201453

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta type I

Criteria Provided
Conflicting Classifications

CA8645886

rs_777150332

2 SubmittersRCV001768806 RCV003631216

NM_000088.4(COL1A1):c.2090G>A (p.Arg697Gln)

SNV
Germline

Chr17:50191825

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta type I

Criteria Provided
Conflicting Classifications

CA8644938

rs_202221716

2 SubmittersRCV001754861 RCV001868436

NM_000088.4(COL1A1):c.4100C>A (p.Thr1367Asn)

SNV
Germline

Chr17:50185926

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta type I

Criteria Provided
Conflicting Classifications

CA400192276

rs_2144532190

3 SubmittersRCV001761356 RCV001868544

NM_000088.4(COL1A1):c.2284G>A (p.Val762Ile)

SNV
Germline

Chr17:50190876

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta type I

Criteria Provided
Conflicting Classifications

CA291543900

rs_138749826

2 SubmittersRCV001774467 RCV001868578

NM_000088.4(COL1A1):c.2481C>T (p.Gly827=)

SNV
Germline

Chr17:50190079

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta type I
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA8644786

rs_779002822

3 SubmittersRCV001771284 RCV001868612 RCV002425057

NM_000089.4(COL1A2):c.2152G>A (p.Gly718Ser)

SNV
Germline

Chr7:94420409

Pathogenic

Condition: not provided
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA162935711

rs_72658168

2 SubmittersRCV001766007 RCV003772048

NM_000088.4(COL1A1):c.3022C>T (p.Pro1008Ser)

SNV
Germline

Chr17:50188926

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta type I

Criteria Provided
Conflicting Classifications

CA400203743

rs_1199013401

2 SubmittersRCV001773212 RCV002540579

NM_000088.4(COL1A1):c.1532G>A (p.Arg511His)

SNV
Germline

Chr17:50194431

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta type I
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA8645199

rs_780422688

4 SubmittersRCV001774794 RCV002272492 RCV005802227

NM_000089.4(COL1A2):c.1163G>T (p.Gly388Val)

SNV
Germline

Chr7:94410493

Pathogenic

Osteogenesis imperfecta, perinatal lethal
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA162921152

rs_72658106

2 SubmittersRCV001775390 RCV004699468

NM_000088.4(COL1A1):c.210C>A (p.Cys70Ter)

SNV
Germline

Chr17:50199841

Pathogenic

Condition: not provided
Osteogenesis imperfecta type I

Criteria Provided
Multiple Submitters
No Conflicts

CA400228324

rs_2144594178

2 SubmittersRCV001780529 RCV003631225

NM_000088.4(COL1A1):c.1155+1G>C

SNV
Germline

Chr17:50195566

Pathogenic/Likely pathogenic

Condition: not provided
Osteogenesis imperfecta type I
Osteogenesis imperfecta

Criteria Provided
Multiple Submitters
No Conflicts

CA291546841

rs_72648315

3 SubmittersRCV001780530 RCV003517348 RCV003985853

NM_000088.4(COL1A1):c.1561G>T (p.Gly521Ter)

SNV
Germline

Chr17:50194402

Pathogenic/Likely pathogenic

Condition: not provided
Osteogenesis imperfecta type III

Criteria Provided
Multiple Submitters
No Conflicts

CA400216666

rs_2144571189

2 SubmittersRCV001780535 RCV001810323

NM_000089.4(COL1A2):c.3278G>C (p.Gly1093Ala)

SNV
Germline

Chr7:94427637

Pathogenic

Osteogenesis imperfecta with normal sclerae, dominant form

Criteria Provided
Single Submitter

rs_2115959468

1 SubmittersRCV005627181

NM_018112.3(TMEM38B):c.507G>A (p.Trp169Ter)

SNV
Germline

Chr9:105722586

Pathogenic

Osteogenesis imperfecta type 14
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA374380597

rs_1179429999

4 SubmittersRCV001785068 RCV001885170

NM_000088.4(COL1A1):c.3281G>C (p.Gly1094Ala)

SNV
Germline

Chr17:50187964

Likely pathogenic

Condition: not provided
Osteogenesis imperfecta

Criteria Provided
Multiple Submitters
No Conflicts

CA400199913

rs_2144542715

2 SubmittersRCV001780809 RCV001836654

NM_000088.4(COL1A1):c.543+1G>A

SNV
Germline

Chr17:50198432

Pathogenic/Likely pathogenic

Condition: not provided
Osteogenesis imperfecta type I

Criteria Provided
Multiple Submitters
No Conflicts

CA400225927

rs_2144588841

2 SubmittersRCV001780810 RCV003517350

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_000089.4(COL1A2):c.2225G>A (p.Gly742Glu)

SNV
Germline

Chr7:94420578

Pathogenic/Likely pathogenic

Osteogenesis imperfecta
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA368223507

rs_2115931969

2 SubmittersRCV001794519 RCV001786163

NM_018112.3(TMEM38B):c.300A>G (p.Leu100=)

SNV
Germline

Chr9:105721567

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta
not specified

Criteria Provided
Conflicting Classifications

CA5170840

rs_201768590

4 SubmittersRCV001787579 RCV002276896 RCV005419212

NM_000088.4(COL1A1):c.3014T>A (p.Leu1005Ter)

SNV
Germline

Chr17:50188934

Pathogenic

Osteogenesis imperfecta
Osteogenesis imperfecta type I

Criteria Provided
Multiple Submitters
No Conflicts

CA400203807

rs_2144547622

2 SubmittersRCV001795867 RCV001868894

NM_000088.4(COL1A1):c.2668-2A>G

SNV
Unknown

Chr17:50189540

Likely pathogenic

Osteogenesis imperfecta

Criteria Provided
Single Submitter

CA400206121

rs_2144550759

1 SubmittersRCV001795870

NM_000089.4(COL1A2):c.3070G>A (p.Gly1024Arg)

SNV
Germline

Chr7:94426495

Pathogenic/Likely pathogenic

Osteogenesis imperfecta
COL1A2-related disorder
Osteogenesis imperfecta, perinatal lethal

Criteria Provided
Multiple Submitters
No Conflicts

CA368225205

rs_2115954840

3 SubmittersRCV001795872 RCV003416459 RCV006249772

NM_002615.7(SERPINF1):c.787-617G>A

SNV
Germline

Chr17:1775915

Likely pathogenic

Osteogenesis imperfecta
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA2573054340

rs_2151212328

2 SubmittersRCV001797900 RCV006467972

NM_000158.4(GBE1):c.1843G>C (p.Ala615Pro)

SNV
Germline

Chr3:81535286

Likely pathogenic

Osteogenesis imperfecta type 15

Criteria Provided
Single Submitter

CA353686182

rs_768485124

1 SubmittersRCV001806325

NM_000088.4(COL1A1):c.2029-1G>T

SNV
Germline

Chr17:50191887

Pathogenic

Multiple epiphyseal dysplasia type 1
Osteogenesis imperfecta, perinatal lethal

Criteria Provided
Single Submitter

CA400212093

rs_1201602830

1 SubmittersRCV001806327 RCV002227560

NM_000088.4(COL1A1):c.4166T>C (p.Leu1389Pro)

SNV
Germline

Chr17:50185860

Likely pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400191791

rs_2144531821

1 SubmittersRCV001806446

NM_000088.4(COL1A1):c.2398-2A>G

SNV
Germline

Chr17:50190382

Pathogenic

Osteogenesis imperfecta, perinatal lethal

No Assertion Criteria Provided

CA400208017

rs_2144554674

1 SubmittersRCV002264822

NM_000088.4(COL1A1):c.4238A>G (p.Asp1413Gly)

SNV
Germline

Chr17:50185788

Pathogenic

Osteogenesis imperfecta, perinatal lethal

No Assertion Criteria Provided

CA400191242

rs_2144531133

1 SubmittersRCV002264823

NM_000088.4(COL1A1):c.3316G>T (p.Gly1106Cys)

SNV
Unknown

Chr17:50187929

Pathogenic

Osteogenesis imperfecta, perinatal lethal

No Assertion Criteria Provided

CA400199735

rs_2144542487

1 SubmittersRCV002264824

NM_000089.4(COL1A2):c.3134G>A (p.Gly1045Asp)

SNV
Unknown

Chr7:94427036

Likely pathogenic

Osteogenesis imperfecta, perinatal lethal

No Assertion Criteria Provided

CA368225345

rs_2115957148

1 SubmittersRCV002264830

NM_000088.4(COL1A1):c.2867G>C (p.Gly956Ala)

SNV
Germline

Chr17:50189238

Likely pathogenic

Osteogenesis imperfecta with normal sclerae, dominant form

Criteria Provided
Single Submitter

CA400205037

rs_2144549155

1 SubmittersRCV001808052

NM_000088.4(COL1A1):c.1292G>T (p.Gly431Val)

SNV
Germline

Chr17:50195239

Likely pathogenic

Osteogenesis imperfecta, perinatal lethal

Criteria Provided
Single Submitter

CA291546597

rs_72648332

1 SubmittersRCV001808843

NM_000089.4(COL1A2):c.2161G>T (p.Gly721Cys)

SNV
Germline

Chr7:94420418

Likely pathogenic

Osteogenesis imperfecta type III

Criteria Provided
Single Submitter

CA368223370

rs_72658169

1 SubmittersRCV001808871

NM_000089.4(COL1A2):c.1630G>T (p.Gly544Cys)

SNV
Unknown

Chr7:94413912

Likely pathogenic

Osteogenesis imperfecta, perinatal lethal

No Assertion Criteria Provided

CA368222258

rs_72658134

1 SubmittersRCV001808941

NM_000088.4(COL1A1):c.2056G>A (p.Gly686Ser)

SNV
Germline

Chr17:50191859

Likely pathogenic

Osteogenesis imperfecta, perinatal lethal

No Assertion Criteria Provided

CA400211933

rs_1404470949

1 SubmittersRCV001822978

NM_000088.4(COL1A1):c.2336G>T (p.Gly779Val)

SNV
Germline

Chr17:50190824

Likely pathogenic

Osteogenesis imperfecta, perinatal lethal

No Assertion Criteria Provided

CA400209802

rs_2144556146

1 SubmittersRCV002271675

NM_000088.4(COL1A1):c.590G>T (p.Gly197Val)

SNV
Germline

Chr17:50198001

Pathogenic/Likely pathogenic

Osteogenesis imperfecta type I
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA400225371

rs_72667028

4 SubmittersRCV001823557 RCV002264392

NM_000088.4(COL1A1):c.643-1G>A

SNV
Germline

Chr17:50197786

Likely pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400224888

rs_2144586155

1 SubmittersRCV001823795

NM_000088.4(COL1A1):c.4189G>T (p.Glu1397Ter)

SNV
Germline

Chr17:50185837

Pathogenic

Osteogenesis imperfecta

Criteria Provided
Single Submitter

CA400191688

rs_902407269

1 SubmittersRCV001824089

NM_000088.4(COL1A1):c.3871T>G (p.Cys1291Gly)

SNV
Germline

Chr17:50186451

Likely pathogenic

Osteogenesis imperfecta

Criteria Provided
Single Submitter

CA400193742

rs_2144534929

1 SubmittersRCV001836664

NM_000088.4(COL1A1):c.2579G>A (p.Gly860Glu)

SNV
Germline

Chr17:50189893

Likely pathogenic

Osteogenesis imperfecta
COL1A1-related disorder

Criteria Provided
Single Submitter

CA400207326

rs_72653142

2 SubmittersRCV001836665 RCV004552047

NM_000089.4(COL1A2):c.279+3A>C

SNV
Germline

Chr7:94401623

Likely pathogenic

Osteogenesis imperfecta, perinatal lethal

Criteria Provided
Single Submitter

CA2573052940

rs_762201938

1 SubmittersRCV001836672

NM_000089.4(COL1A2):c.2711G>A (p.Gly904Glu)

SNV
Germline

Chr7:94425154

Likely pathogenic

Osteogenesis imperfecta, perinatal lethal
Ehlers-Danlos syndrome, cardiac valvular type

Criteria Provided
Multiple Submitters
No Conflicts

CA368224460

rs_775246283

2 SubmittersRCV001836673 RCV005238003

NM_000089.4(COL1A2):c.2701G>A (p.Gly901Ser)

SNV
Germline

Chr7:94425144

Pathogenic/Likely pathogenic

Condition: not provided
Ehlers-Danlos syndrome
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, arthrochalasia type, 2

Criteria Provided
Multiple Submitters
No Conflicts

CA4347536

rs_72659306

7 SubmittersRCV001843974 RCV002276905 RCV002543291 RCV005860264

NM_000088.4(COL1A1):c.3064G>T (p.Gly1022Cys)

SNV
Germline

Chr17:50188777

Pathogenic

Osteogenesis imperfecta type III

No Assertion Criteria Provided

CA400203250

rs_66523073

1 SubmittersRCV003333183

NM_000088.4(COL1A1):c.328G>A (p.Val110Ile)

SNV
Germline

Chr17:50199561

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8645755

rs_375823086

3 SubmittersRCV001946395 RCV002276945 RCV004694009

NM_000088.4(COL1A1):c.543+1G>T

SNV
Germline

Chr17:50198432

Pathogenic/Likely pathogenic

Osteogenesis imperfecta type I
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA400225917

rs_2144588841

2 SubmittersRCV001887796 RCV004584928

NM_000088.4(COL1A1):c.4009G>A (p.Glu1337Lys)

SNV
Germline

Chr17:50186017

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type I
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA8644274

rs_760040029

3 SubmittersRCV002024140 RCV005051949 RCV006267013

NM_000089.4(COL1A2):c.792G>C (p.Lys264Asn)

SNV
Germline

Chr7:94408823

Likely pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Single Submitter

CA368220529

rs_2115890442

1 SubmittersRCV002024171

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

SNV
Germline

Chr1:42754868

Pathogenic/Likely pathogenic

Osteogenesis imperfecta type 8

Criteria Provided
Multiple Submitters
No Conflicts

CA801880

rs_780595278

2 SubmittersRCV002024402

NM_000088.4(COL1A1):c.3469G>A (p.Gly1157Ser)

SNV
Germline

Chr17:50187077

Likely pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400198833

rs_1278821174

1 SubmittersRCV001986957

NM_000088.4(COL1A1):c.183C>G (p.Cys61Trp)

SNV
Germline

Chr17:50199868

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400228457

rs_755126464

1 SubmittersRCV001901289

NM_000088.4(COL1A1):c.1139G>C (p.Gly380Ala)

SNV
Germline

Chr17:50195583

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400219607

rs_72648314

1 SubmittersRCV001891568

NM_000089.4(COL1A2):c.2036G>C (p.Gly679Ala)

SNV
Germline

Chr7:94419508

Likely pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Single Submitter

CA368223119

rs_2115927860

1 SubmittersRCV001990385

NM_000088.4(COL1A1):c.958G>T (p.Gly320Cys)

SNV
Germline

Chr17:50196199

Likely pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400221483

rs_2144580035

1 SubmittersRCV002046149

NM_000089.4(COL1A2):c.693+6T>G

SNV
Germline

Chr7:94408242

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
Ehlers-Danlos syndrome
Osteogenesis imperfecta

Criteria Provided
Conflicting Classifications

CA2573142434

rs_2115888140

2 SubmittersRCV001970399 RCV002276961 RCV002276960

NM_000089.4(COL1A2):c.1874G>C (p.Gly625Ala)

SNV
Germline

Chr7:94417734

Likely pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Single Submitter

CA4347222

rs_72658145

1 SubmittersRCV001969058

NM_000088.4(COL1A1):c.4195C>T (p.Arg1399Cys)

SNV
Germline

Chr17:50185831

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type I
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8644236

rs_762848021

2 SubmittersRCV001904765 RCV002292673

NM_000088.4(COL1A1):c.1200+2T>A

SNV
Germline

Chr17:50195432

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400219037

rs_2144576668

1 SubmittersRCV001872449

NM_000088.4(COL1A1):c.2667+1G>T

SNV
Germline

Chr17:50189678

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400206949

rs_72653150

1 SubmittersRCV001941735

NM_000088.4(COL1A1):c.3304C>T (p.Gln1102Ter)

SNV
Germline

Chr17:50187941

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400199802

rs_2144542582

1 SubmittersRCV001888800

NM_000088.4(COL1A1):c.1207C>G (p.Pro403Ala)

SNV
Germline

Chr17:50195324

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type I
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA8645345

rs_762809403

3 SubmittersRCV002015198 RCV003738124 RCV004990548

NM_000088.4(COL1A1):c.326G>A (p.Gly109Asp)

SNV
Germline

Chr17:50199563

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8645757

rs_372159426

3 SubmittersRCV001920830 RCV002276929 RCV004693955

NM_000089.4(COL1A2):c.2314G>C (p.Gly772Arg)

SNV
Germline

Chr7:94421027

Pathogenic/Likely pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type III
Osteogenesis imperfecta with normal sclerae, dominant form

Criteria Provided
Multiple Submitters
No Conflicts

CA368223686

rs_72658185

3 SubmittersRCV001961344 RCV002469444 RCV005627118

NM_000088.4(COL1A1):c.625G>A (p.Gly209Ser)

SNV
Germline

Chr17:50197966

Likely pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400225125

rs_2144586877

1 SubmittersRCV001993859

NM_000088.4(COL1A1):c.3665A>G (p.Asn1222Ser)

SNV
Germline

Chr17:50186789

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type I
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA8644379

rs_751784955

3 SubmittersRCV001886721 RCV003156356 RCV005419248

NM_000088.4(COL1A1):c.2451T>C (p.Pro817=)

SNV
Germline

Chr17:50190327

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type I
Condition: not provided
Cardiovascular phenotype
not specified
Melanoma

Criteria Provided
Conflicting Classifications

CA8644809

rs_374465457

7 SubmittersRCV001995170 RCV003426271 RCV004044708 RCV006274288 RCV005925407

NM_000089.4(COL1A2):c.505G>A (p.Gly169Arg)

SNV
Germline

Chr7:94405691

Likely pathogenic

Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA368219916

rs_2115879081

1 SubmittersRCV002019618

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_000089.4(COL1A2):c.1010G>C (p.Gly337Ala)

SNV
Germline

Chr7:94409796

Pathogenic

Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA368220962

rs_2115894285

1 SubmittersRCV001933055

NM_000089.4(COL1A2):c.1045G>C (p.Gly349Arg)

SNV
Germline

Chr7:94410251

Pathogenic

Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA368221035

rs_66773001

1 SubmittersRCV001898068

NM_000088.4(COL1A1):c.3855T>A (p.Asp1285Glu)

SNV
Germline

Chr17:50186467

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400193833

rs_1598285068

1 SubmittersRCV001946768

NM_000089.4(COL1A2):c.1811G>A (p.Gly604Asp)

SNV
Germline

Chr7:94416451

Likely pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Single Submitter

CA368222648

rs_2115917059

1 SubmittersRCV002028595

NM_000089.4(COL1A2):c.2333G>C (p.Gly778Ala)

SNV
Germline

Chr7:94421046

Likely pathogenic

Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA368223722

rs_2115933783

2 SubmittersRCV002031537 RCV004793716

NM_000088.4(COL1A1):c.3769C>T (p.Arg1257Cys)

SNV
Germline

Chr17:50186685

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type I
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA8644357

rs_368295399

2 SubmittersRCV001907566 RCV002361107

NM_000088.4(COL1A1):c.979G>T (p.Ala327Ser)

SNV
Germline

Chr17:50196178

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type I
Osteogenesis imperfecta
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA8645457

rs_769106952

4 SubmittersRCV001886901 RCV002276923 RCV006280754 RCV006458744

NM_000089.4(COL1A2):c.1144G>A (p.Gly382Ser)

SNV
Germline

Chr7:94410474

Pathogenic

Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA368221244

rs_2115896730

1 SubmittersRCV001958562

NM_000089.4(COL1A2):c.605G>T (p.Gly202Val)

SNV
Germline

Chr7:94407857

Likely pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Single Submitter

CA368220144

rs_72656377

1 SubmittersRCV001970920

NM_000089.4(COL1A2):c.69A>G (p.Gln23=)

SNV
Germline

Chr7:94395100

Conflicting classifications of pathogenicity

Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA4346414

rs_770754442

2 SubmittersRCV001952322 RCV002361241

NM_000089.4(COL1A2):c.2080G>A (p.Gly694Ser)

SNV
Germline

Chr7:94420233

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Conflicting Classifications

CA368223207

rs_121912908

2 SubmittersRCV005542484 RCV002050651

NM_000088.4(COL1A1):c.4120G>A (p.Val1374Met)

SNV
Germline

Chr17:50185906

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type I
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA291542801

rs_954167907

2 SubmittersRCV001908815 RCV006352590

NM_000089.4(COL1A2):c.1892G>A (p.Gly631Asp)

SNV
Germline

Chr7:94417752

Pathogenic

Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA368222818

rs_1584324507

2 SubmittersRCV001953739 RCV003236914

NM_000088.4(COL1A1):c.1921G>A (p.Gly641Arg)

SNV
Germline

Chr17:50192648

Pathogenic

Osteogenesis imperfecta type I
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA400213663

rs_2144563717

4 SubmittersRCV001953757 RCV002307816

NM_000478.6(ALPL):c.980T>G (p.Phe327Cys)

SNV
Germline

Chr1:21573782

Pathogenic/Likely pathogenic

Condition: not provided
Osteogenesis imperfecta
Adult hypophosphatasia
Hypophosphatasia

Criteria Provided
Multiple Submitters
No Conflicts

CA666695

rs_779832611

5 SubmittersRCV001972665 RCV002276955 RCV003475237 RCV005645339

NM_000478.6(ALPL):c.454C>T (p.Arg152Cys)

SNV
Germline

Chr1:21563266

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta
Adult hypophosphatasia
Childhood hypophosphatasia
Infantile hypophosphatasia
Adult hypophosphatasia
Hypophosphatasia

Criteria Provided
Conflicting Classifications

CA19059381

rs_200621180

7 SubmittersRCV001973364 RCV002276963 RCV002479619 RCV003464338 RCV005432880

NM_000089.4(COL1A2):c.2323G>C (p.Gly775Arg)

SNV
Germline

Chr7:94421036

Pathogenic

Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA368223702

rs_2115933691

1 SubmittersRCV001891127

NM_000089.4(COL1A2):c.271G>T (p.Gly91Ter)

SNV
Germline

Chr7:94401612

Pathogenic

Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA368219393

rs_764355552

1 SubmittersRCV001982827

NM_000089.4(COL1A2):c.3350A>G (p.Tyr1117Cys)

SNV
Germline

Chr7:94427709

Pathogenic/Likely pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA368225786

rs_2115959866

2 SubmittersRCV001977185 RCV005601851

NM_000942.5(PPIB):c.509G>A (p.Gly170Asp)

SNV
Germline

Chr15:64156744

Pathogenic

Condition: not provided
Osteogenesis imperfecta

Criteria Provided
Multiple Submitters
No Conflicts

CA7608464

rs_199606428

2 SubmittersRCV001912518 RCV003331224

NM_000088.4(COL1A1):c.1588G>T (p.Gly530Cys)

SNV
Germline

Chr17:50194375

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA291545243

rs_67682641

1 SubmittersRCV001914424

NM_000089.4(COL1A2):c.515G>T (p.Gly172Val)

SNV
Germline

Chr7:94405701

Likely pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Single Submitter

CA4346697

rs_768263997

1 SubmittersRCV001973919

NM_000089.4(COL1A2):c.3359A>G (p.Asp1120Gly)

SNV
Germline

Chr7:94427718

Pathogenic

Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA368225806

rs_2115959926

1 SubmittersRCV001932458

NM_000089.4(COL1A2):c.2431G>A (p.Gly811Ser)

SNV
Germline

Chr7:94422984

Pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Single Submitter

CA368223917

rs_2115940948

1 SubmittersRCV001901796

NM_000089.4(COL1A2):c.1765-5T>C

SNV
Germline

Chr7:94416400

Conflicting classifications of pathogenicity

Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2573142435

rs_2115916781

2 SubmittersRCV001940965 RCV002397944

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_000088.4(COL1A1):c.3814+1G>C

SNV
Germline

Chr17:50186639

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400195841

rs_2144535840

1 SubmittersRCV001958947

NM_000088.4(COL1A1):c.1471G>A (p.Gly491Ser)

SNV
Germline

Chr17:50194617

Pathogenic

Osteogenesis imperfecta type I
Osteogenesis imperfecta type III

Criteria Provided
Multiple Submitters
No Conflicts

CA400217499

rs_72648348

2 SubmittersRCV001942481 RCV005439018

NM_000089.4(COL1A2):c.2953G>A (p.Gly985Ser)

SNV
Germline

Chr7:94426007

Pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Single Submitter

CA368224965

rs_2115953343

1 SubmittersRCV001969697

NM_000089.4(COL1A2):c.1404C>T (p.Val468=)

SNV
Germline

Chr7:94412121

Conflicting classifications of pathogenicity

Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA4347029

rs_773852385

2 SubmittersRCV001919629 RCV002388849

NM_006371.5(CRTAP):c.794-2A>G

SNV
Germline

Chr3:33129937

Likely pathogenic

Osteogenesis imperfecta type 7

Criteria Provided
Single Submitter

CA351996543

rs_2125602711

1 SubmittersRCV001971483

NM_000088.4(COL1A1):c.3779G>A (p.Arg1260His)

SNV
Germline

Chr17:50186675

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type I
Condition: not provided
Cardiovascular phenotype
COL1A1-related disorder
8 conditions

Criteria Provided
Conflicting Classifications

CA8644350

rs_774001209

5 SubmittersRCV001921352 RCV003235624 RCV003382730 RCV004552115 RCV005016865

NM_002615.7(SERPINF1):c.620T>G (p.Leu207Arg)

SNV
Germline

Chr17:1772052

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta

Criteria Provided
Conflicting Classifications

CA286846335

rs_967535162

2 SubmittersRCV001997482 RCV002276950

NM_000089.4(COL1A2):c.280-2A>G

SNV
Germline

Chr7:94404554

Likely pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Single Submitter

CA368219414

rs_2115874899

1 SubmittersRCV001998278

NM_000088.4(COL1A1):c.428C>G (p.Pro143Arg)

SNV
Germline

Chr17:50199269

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type I
Cardiovascular phenotype
Condition: not provided
COL1A1-related disorder

Criteria Provided
Conflicting Classifications

CA400227350

rs_941273260

4 SubmittersRCV001935497 RCV002331431 RCV003332359 RCV004552100

NM_000088.4(COL1A1):c.1778G>C (p.Gly593Ala)

SNV
Germline

Chr17:50193037

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400214957

rs_72651613

1 SubmittersRCV001982320

NM_000088.4(COL1A1):c.698G>A (p.Gly233Glu)

SNV
Germline

Chr17:50197232

Likely pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400224337

rs_2144584170

1 SubmittersRCV001988650

NM_000088.4(COL1A1):c.4228G>A (p.Val1410Ile)

SNV
Germline

Chr17:50185798

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type I
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA8644223

rs_769619568

2 SubmittersRCV001977069 RCV004045270

NM_000089.4(COL1A2):c.2360G>C (p.Gly787Ala)

SNV
Germline

Chr7:94421909

Pathogenic

Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA368223782

rs_2115936945

1 SubmittersRCV002047662

NM_000088.4(COL1A1):c.1930-2A>G

SNV
Germline

Chr17:50192530

Pathogenic

Osteogenesis imperfecta type I
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA400213520

rs_2144563277

2 SubmittersRCV001874335 RCV006251062

NM_000088.4(COL1A1):c.1238G>C (p.Gly413Ala)

SNV
Germline

Chr17:50195293

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type I
Osteogenesis imperfecta with normal sclerae, dominant form

Criteria Provided
Conflicting Classifications

CA291546652

rs_72648325

2 SubmittersRCV001867384 RCV003339774

NM_000088.4(COL1A1):c.788G>A (p.Gly263Glu)

SNV
Germline

Chr17:50197026

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400223772

rs_72645324

1 SubmittersRCV001867411

NM_000088.4(COL1A1):c.696+1G>A

SNV
Germline

Chr17:50197731

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400224494

rs_2144585785

1 SubmittersRCV001894604

NM_000088.4(COL1A1):c.589-2A>G

SNV
Germline

Chr17:50198004

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA291548137

rs_72667027

1 SubmittersRCV001874377

NM_000088.4(COL1A1):c.769G>C (p.Gly257Arg)

SNV
Germline

Chr17:50197045

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400223887

rs_72645321

1 SubmittersRCV002007244

NM_000088.4(COL1A1):c.2026A>T (p.Arg676Ter)

SNV
Germline

Chr17:50191982

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400212203

rs_2144561250

1 SubmittersRCV002035317

NM_000478.6(ALPL):c.1100C>T (p.Ser367Phe)

SNV
Germline

Chr1:21575835

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta

Criteria Provided
Conflicting Classifications

CA338881234

rs_1300239598

2 SubmittersRCV001976689 RCV002276970

NM_000088.4(COL1A1):c.333G>A (p.Glu111=)

SNV
Germline

Chr17:50199556

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA291550707

rs_2857400

1 SubmittersRCV002000147

NM_000089.4(COL1A2):c.454C>T (p.Arg152Ter)

SNV
Germline

Chr7:94405220

Pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Single Submitter

CA368219804

rs_1791771616

1 SubmittersRCV001993149

NM_000089.4(COL1A2):c.3971G>A (p.Trp1324Ter)

SNV
Germline

Chr7:94430263

Likely pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2

Criteria Provided
Single Submitter

CA368227165

rs_2115969692

2 SubmittersRCV001922511 RCV002291005

NM_000088.4(COL1A1):c.3G>T (p.Met1Ile)

SNV
Germline

Chr17:50201511

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400230603

rs_1567766329

1 SubmittersRCV001994619

NM_000088.4(COL1A1):c.3903C>A (p.Tyr1301Ter)

SNV
Germline

Chr17:50186419

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400193563

rs_1239012334

1 SubmittersRCV002000039

NM_000088.4(COL1A1):c.779G>A (p.Gly260Asp)

SNV
Germline

Chr17:50197035

Pathogenic/Likely pathogenic

Osteogenesis imperfecta type I
Osteogenesis imperfecta with normal sclerae, dominant form
Osteogenesis imperfecta

Criteria Provided
Multiple Submitters
No Conflicts

CA400223823

rs_1598299070

3 SubmittersRCV001890294 RCV002250781 RCV005429069

NM_002335.4(LRP5):c.3122C>T (p.Thr1041Met)

SNV
Germline

Chr11:68423583

Pathogenic/Likely pathogenic

Condition: not provided
Osteogenesis imperfecta
6 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA381620762

rs_1311935185

3 SubmittersRCV002004821 RCV002276951 RCV005050476

NM_006371.5(CRTAP):c.172G>T (p.Glu58Ter)

SNV
Germline

Chr3:33114249

Pathogenic

Osteogenesis imperfecta type 7

Criteria Provided
Single Submitter

CA2300221

rs_769484595

1 SubmittersRCV002007475

NM_000089.4(COL1A2):c.3277G>C (p.Gly1093Arg)

SNV
Germline

Chr7:94427636

Pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA368225638

rs_2115959456

2 SubmittersRCV001993390 RCV005054393

NM_000088.4(COL1A1):c.3207+2T>C

SNV
Germline

Chr17:50188528

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400200487

rs_2144545179

1 SubmittersRCV001994472

NM_000088.4(COL1A1):c.859G>A (p.Gly287Ser)

SNV
Germline

Chr17:50196528

Pathogenic/Likely pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Multiple Submitters
No Conflicts

CA291547322

rs_72645340

2 SubmittersRCV002007540

NM_000088.4(COL1A1):c.588+1G>A

SNV
Germline

Chr17:50198160

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type I
Osteogenesis imperfecta

Criteria Provided
Conflicting Classifications

CA291548212

rs_72667025

2 SubmittersRCV001994477 RCV002276952

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_000089.4(COL1A2):c.2449G>T (p.Gly817Trp)

SNV
Germline

Chr7:94423002

Likely pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Single Submitter

CA368223958

rs_2115941022

1 SubmittersRCV002016120

NM_005430.4(WNT1):c.681C>A (p.Cys227Ter)

SNV
Germline

Chr12:48981208

Pathogenic/Likely pathogenic

Condition: not provided
Osteogenesis imperfecta type 15
OSTEOPOROSIS, EARLY-ONSET, SUSCEPTIBILITY TO

Criteria Provided
Multiple Submitters
No Conflicts

CA384633889

rs_2137625115

2 SubmittersRCV001874965 RCV005006132

NM_000088.4(COL1A1):c.626G>A (p.Gly209Asp)

SNV
Germline

Chr17:50197965

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400225122

rs_1907746069

1 SubmittersRCV001932679

NM_000088.4(COL1A1):c.370-1G>T

SNV
Germline

Chr17:50199328

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400227570

rs_2144591532

1 SubmittersRCV001932711

NM_000088.4(COL1A1):c.2614-2A>G

SNV
Germline

Chr17:50189734

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400207151

rs_2144551661

1 SubmittersRCV001962897

NM_006371.5(CRTAP):c.452T>C (p.Leu151Pro)

SNV
Germline

Chr3:33114529

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type 7
not specified

Criteria Provided
Conflicting Classifications

CA352008879

rs_1405064021

3 SubmittersRCV002011676 RCV004699646

NM_000089.4(COL1A2):c.3865G>C (p.Ala1289Pro)

SNV
Germline

Chr7:94429341

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA368226923

rs_759477389

2 SubmittersRCV002034952 RCV004996024

NM_000088.4(COL1A1):c.2444G>C (p.Gly815Ala)

SNV
Germline

Chr17:50190334

Pathogenic

Osteogenesis imperfecta type I
COL1A1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA291543364

rs_66929517

2 SubmittersRCV001918022 RCV004552092

NM_000088.4(COL1A1):c.2552G>C (p.Gly851Ala)

SNV
Germline

Chr17:50190008

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400207493

rs_72653137

1 SubmittersRCV001939495

NM_000089.4(COL1A2):c.2288G>A (p.Gly763Asp)

SNV
Germline

Chr7:94420641

Pathogenic/Likely pathogenic

Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I
Osteogenesis imperfecta, perinatal lethal
Osteogenesis imperfecta type III
Osteogenesis imperfecta with normal sclerae, dominant form

Criteria Provided
Multiple Submitters
No Conflicts

CA368223631

rs_72658179

2 SubmittersRCV001941895 RCV002243493

NM_000088.4(COL1A1):c.370-1G>A

SNV
Germline

Chr17:50199328

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Multiple Submitters
No Conflicts

CA400227568

rs_2144591532

2 SubmittersRCV001941981

NM_006371.5(CRTAP):c.802G>A (p.Val268Ile)

SNV
Germline

Chr3:33129947

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type 7

Criteria Provided
Conflicting Classifications

CA72668052

rs_112423184

2 SubmittersRCV002011368

NM_000088.4(COL1A1):c.4343G>A (p.Gly1448Asp)

SNV
Germline

Chr17:50185554

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400190207

rs_2144529623

1 SubmittersRCV001989180

NM_000089.4(COL1A2):c.693+1G>C

SNV
Germline

Chr7:94408237

Pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Single Submitter

CA368220324

rs_72656381

1 SubmittersRCV001895736

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_000088.4(COL1A1):c.2668-1G>T

SNV
Germline

Chr17:50189539

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400206114

rs_1114167394

1 SubmittersRCV001879067

NM_000089.4(COL1A2):c.1423G>A (p.Gly475Ser)

SNV
Germline

Chr7:94412602

Conflicting classifications of pathogenicity

Autosomal dominant COL1A2-related disorders
Ehlers-Danlos syndrome
Condition: not provided
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA4347057

rs_755058199

5 SubmittersRCV006554633 RCV003230710 RCV003328686 RCV001915322 RCV004996080

NM_000088.4(COL1A1):c.3532-3C>T

SNV
Germline

Chr17:50186925

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome
Cardiovascular phenotype
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8644404

rs_369283493

5 SubmittersRCV001950041 RCV002276940 RCV004612010 RCV005406208 RCV004793620

NM_000088.4(COL1A1):c.471+5G>A

SNV
Germline

Chr17:50199221

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type I
Osteogenesis imperfecta

Criteria Provided
Conflicting Classifications

CA2573154234

rs_1555575015

2 SubmittersRCV002030041 RCV005623448

NM_000088.4(COL1A1):c.796G>A (p.Gly266Arg)

SNV
Germline

Chr17:50197018

Pathogenic

Osteogenesis imperfecta type I
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA400223713

rs_1555574493

2 SubmittersRCV001946807 RCV004720990

NM_000089.4(COL1A2):c.901G>A (p.Gly301Arg)

SNV
Germline

Chr7:94409573

Pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Single Submitter

CA368220746

rs_2115893133

1 SubmittersRCV001951134

NM_000089.4(COL1A2):c.2755G>T (p.Gly919Cys)

SNV
Germline

Chr7:94425198

Pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Single Submitter

CA368224544

rs_749621872

1 SubmittersRCV001972387

NM_000089.4(COL1A2):c.1793G>A (p.Gly598Asp)

SNV
Germline

Chr7:94416433

Likely pathogenic

Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA368222616

rs_72658142

1 SubmittersRCV002003093

NM_000088.4(COL1A1):c.805-1G>C

SNV
Germline

Chr17:50196671

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400222722

rs_1598298699

1 SubmittersRCV002014190

NM_000088.4(COL1A1):c.3814+2T>C

SNV
Germline

Chr17:50186638

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400195828

rs_112830882

1 SubmittersRCV001931600

NM_000088.4(COL1A1):c.2451+5G>A

SNV
Germline

Chr17:50190322

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA2573154233

rs_2144554325

1 SubmittersRCV001948489

NM_000088.4(COL1A1):c.1984-1G>A

SNV
Germline

Chr17:50192025

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400212638

rs_2144561474

1 SubmittersRCV001971974

NM_000088.4(COL1A1):c.1876-2A>G

SNV
Germline

Chr17:50192695

Pathogenic/Likely pathogenic

Osteogenesis imperfecta type I
Condition: not provided
Osteogenesis imperfecta with normal sclerae, dominant form

Criteria Provided
Multiple Submitters
No Conflicts

CA291544297

rs_67891210

3 SubmittersRCV001952620 RCV004699566 RCV006605358

NM_000088.4(COL1A1):c.904-9G>A

SNV
Germline

Chr17:50196376

Pathogenic/Likely pathogenic

Osteogenesis imperfecta type I
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA2573154219

rs_141726413

3 SubmittersRCV001971992 RCV004762260

NM_000088.4(COL1A1):c.3262-1G>A

SNV
Germline

Chr17:50187984

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400199962

rs_2144542880

1 SubmittersRCV001974991

NM_000089.4(COL1A2):c.3950G>A (p.Cys1317Tyr)

SNV
Germline

Chr7:94429426

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA368227104

rs_2115967180

2 SubmittersRCV002030562 RCV005626573

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_000088.4(COL1A1):c.2608C>G (p.Pro870Ala)

SNV
Germline

Chr17:50189864

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type I
Condition: not provided

Criteria Provided
Conflicting Classifications

CA291543257

rs_771918127

2 SubmittersRCV001909153 RCV002265043

NM_000088.4(COL1A1):c.3641G>A (p.Arg1214His)

SNV
Germline

Chr17:50186813

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type I
not specified

Criteria Provided
Conflicting Classifications

CA8644384

rs_137987935

2 SubmittersRCV001971853 RCV005406212

NM_000088.4(COL1A1):c.804+1G>A

SNV
Germline

Chr17:50197009

Pathogenic

Osteogenesis imperfecta type I
Condition: not provided
COL1A1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA400223631

rs_1057518930

3 SubmittersRCV001972748 RCV004793656 RCV006270535

NM_000088.4(COL1A1):c.1A>C (p.Met1Leu)

SNV
Germline

Chr17:50201513

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400230610

rs_1555575889

1 SubmittersRCV001972749

NM_000088.4(COL1A1):c.652G>C (p.Gly218Arg)

SNV
Germline

Chr17:50197776

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400224803

rs_2144586064

1 SubmittersRCV001972783

NM_000088.4(COL1A1):c.2489G>A (p.Gly830Asp)

SNV
Germline

Chr17:50190071

Likely pathogenic

Osteogenesis imperfecta
Osteogenesis imperfecta type I

Criteria Provided
Multiple Submitters
No Conflicts

CA400207798

rs_1906940342

2 SubmittersRCV002276975 RCV002008660

NM_000088.4(COL1A1):c.2464C>G (p.Gln822Glu)

SNV
Germline

Chr17:50190096

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type I
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA8644790

rs_72651668

2 SubmittersRCV002026211 RCV002425419

NM_000089.4(COL1A2):c.594+1G>T

SNV
Germline

Chr7:94406304

Pathogenic/Likely pathogenic

Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA368220113

rs_2115881240

2 SubmittersRCV001920858 RCV003136301

NM_000088.4(COL1A1):c.652G>T (p.Gly218Cys)

SNV
Germline

Chr17:50197776

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400224800

rs_2144586064

1 SubmittersRCV001941513

NM_000089.4(COL1A2):c.362G>A (p.Gly121Asp)

SNV
Germline

Chr7:94404730

Pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Single Submitter

CA368219599

rs_2115875700

1 SubmittersRCV001953547

NM_000089.4(COL1A2):c.605G>A (p.Gly202Asp)

SNV
Germline

Chr7:94407857

Pathogenic

Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I
Osteogenesis imperfecta type I

Criteria Provided
Multiple Submitters
No Conflicts

CA162917434

rs_72656377

2 SubmittersRCV001972528 RCV005627117

NM_000089.4(COL1A2):c.693+2T>C

SNV
Germline

Chr7:94408238

Pathogenic

Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA162918067

rs_66516450

1 SubmittersRCV001953550

NM_000089.4(COL1A2):c.794G>T (p.Gly265Val)

SNV
Germline

Chr7:94409323

Pathogenic/Likely pathogenic

Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I
COL1A2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA368220543

rs_72656386

2 SubmittersRCV001953647 RCV003401970

NM_000089.4(COL1A2):c.830G>C (p.Gly277Ala)

SNV
Germline

Chr7:94409359

Pathogenic

Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA4346841

rs_752431578

2 SubmittersRCV002046789 RCV002466705

NM_000089.4(COL1A2):c.1793G>C (p.Gly598Ala)

SNV
Germline

Chr7:94416433

Likely pathogenic

Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA368222617

rs_72658142

2 SubmittersRCV002046893 RCV003107863

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_000088.4(COL1A1):c.1922G>C (p.Gly641Ala)

SNV
Germline

Chr17:50192647

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400213650

rs_1598293646

1 SubmittersRCV002047521

NM_000088.4(COL1A1):c.913G>A (p.Gly305Ser)

SNV
Germline

Chr17:50196358

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA291547228

rs_68062484

1 SubmittersRCV001941098

NM_000089.4(COL1A2):c.1963G>A (p.Gly655Arg)

SNV
Germline

Chr7:94417823

Pathogenic

Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA368222953

rs_2115921786

1 SubmittersRCV001941280

NM_000089.4(COL1A2):c.632G>A (p.Gly211Asp)

SNV
Germline

Chr7:94407884

Pathogenic

Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I
COL1A2-related disorder
Osteogenesis imperfecta type I

Criteria Provided
Multiple Submitters
No Conflicts

CA162917449

rs_72656378

3 SubmittersRCV001959021 RCV003418259 RCV005868497

NM_000089.4(COL1A2):c.1532G>A (p.Gly511Asp)

SNV
Germline

Chr7:94413111

Pathogenic

Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA162925848

rs_66999265

1 SubmittersRCV001975235

NM_000089.4(COL1A2):c.2018G>A (p.Gly673Asp)

SNV
Germline

Chr7:94418545

Pathogenic

Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA368223080

rs_2115924495

1 SubmittersRCV001959025

NM_000088.4(COL1A1):c.110C>G (p.Pro37Arg)

SNV
Germline

Chr17:50199941

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type I
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA400228706

rs_2144594835

2 SubmittersRCV002006509 RCV005804445

NM_000088.4(COL1A1):c.333+1G>A

SNV
Germline

Chr17:50199555

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400227774

rs_2144592402

1 SubmittersRCV001891906

NM_000089.4(COL1A2):c.3583T>C (p.Cys1195Arg)

SNV
Germline

Chr7:94428349

Pathogenic/Likely pathogenic

Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I
Osteogenesis imperfecta with normal sclerae, dominant form
Ehlers-Danlos syndrome, arthrochalasia type, 2
Condition: not provided
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA368226295

rs_2115962248

5 SubmittersRCV002010354 RCV002259408 RCV005254010 RCV005635418 RCV002290832

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_000088.4(COL1A1):c.3023C>T (p.Pro1008Leu)

SNV
Germline

Chr17:50188925

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type I
Condition: not provided

Criteria Provided
Conflicting Classifications

CA400203726

rs_1484351533

2 SubmittersRCV001985041 RCV002265049

NM_000089.4(COL1A2):c.2565+2T>A

SNV
Germline

Chr7:94423120

Pathogenic

Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA368224173

rs_2115941689

1 SubmittersRCV001956522

NM_000088.4(COL1A1):c.268G>T (p.Glu90Ter)

SNV
Germline

Chr17:50199783

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400228096

rs_748550422

1 SubmittersRCV001956530

NM_000089.4(COL1A2):c.2675G>A (p.Gly892Asp)

SNV
Germline

Chr7:94425118

Pathogenic

Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA162939346

rs_72659304

1 SubmittersRCV001958727

NM_000089.4(COL1A2):c.1757G>C (p.Gly586Ala)

SNV
Germline

Chr7:94415263

Pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Single Submitter

CA368222535

rs_121912907

1 SubmittersRCV001915570

NM_000088.4(COL1A1):c.1155+1G>T

SNV
Germline

Chr17:50195566

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400219471

rs_72648315

1 SubmittersRCV001930294

NM_000088.4(COL1A1):c.2200G>A (p.Gly734Ser)

SNV
Germline

Chr17:50191418

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400210964

rs_2144558383

1 SubmittersRCV001913480

NM_000088.4(COL1A1):c.1984-2A>T

SNV
Germline

Chr17:50192026

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400212642

rs_72651632

1 SubmittersRCV001987245

NM_000089.4(COL1A2):c.1441G>C (p.Gly481Arg)

SNV
Germline

Chr7:94412620

Pathogenic

Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA368221857

rs_72658120

1 SubmittersRCV001914173

NM_000089.4(COL1A2):c.3152G>C (p.Gly1051Ala)

SNV
Germline

Chr7:94427054

Likely pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Single Submitter

CA368225377

rs_2115957255

1 SubmittersRCV001973639

NM_000088.4(COL1A1):c.2947G>A (p.Gly983Ser)

SNV
Germline

Chr17:50189001

Likely pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400204351

rs_2144548099

1 SubmittersRCV002010948

NM_000089.4(COL1A2):c.1873G>T (p.Gly625Cys)

SNV
Germline

Chr7:94417733

Pathogenic/Likely pathogenic

Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I
See cases
Osteogenesis imperfecta type III
Osteogenesis imperfecta, perinatal lethal

Criteria Provided
Multiple Submitters
No Conflicts

CA368222785

rs_193922162

4 SubmittersRCV002033708 RCV004584457 RCV004770347 RCV004785437

NM_000088.4(COL1A1):c.1767+1G>A

SNV
Germline

Chr17:50193942

Pathogenic

Osteogenesis imperfecta type I
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA400215116

rs_2144569036

2 SubmittersRCV001886252 RCV003482381

NM_000089.4(COL1A2):c.3358G>A (p.Asp1120Asn)

SNV
Germline

Chr7:94427717

Pathogenic/Likely pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA368225802

rs_2115959912

2 SubmittersRCV001886325 RCV004793562

NM_000088.4(COL1A1):c.607G>C (p.Gly203Arg)

SNV
Germline

Chr17:50197984

Pathogenic

Osteogenesis imperfecta type I
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA291548110

rs_72667030

2 SubmittersRCV001888079 RCV003136207

NM_000088.4(COL1A1):c.298+1G>A

SNV
Germline

Chr17:50199752

Pathogenic/Likely pathogenic

Osteogenesis imperfecta type I
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA400227991

rs_2144593670

3 SubmittersRCV001983866 RCV006451102

NM_000088.4(COL1A1):c.931G>C (p.Gly311Arg)

SNV
Germline

Chr17:50196340

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA291547218

rs_72645345

1 SubmittersRCV001916472

NM_021939.4(FKBP10):c.1621C>T (p.Gln541Ter)

SNV
Germline

Chr17:41822280

Pathogenic/Likely pathogenic

Condition: not provided
Osteogenesis imperfecta type 11
Bruck syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA8566710

rs_782682320

3 SubmittersRCV002001645 RCV005017026

NM_000089.4(COL1A2):c.2777G>A (p.Arg926His)

SNV
Germline

Chr7:94425220

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta, perinatal lethal
not specified

Criteria Provided
Conflicting Classifications

CA4347551

rs_200331961

4 SubmittersRCV006280886 RCV001983960 RCV005861272 RCV003479387

NM_000089.4(COL1A2):c.324+15C>T

SNV
Germline

Chr7:94404615

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA4346623

rs_371250316

4 SubmittersRCV002038510 RCV002284510 RCV006453859

NM_000088.4(COL1A1):c.680G>A (p.Gly227Glu)

SNV
Germline

Chr17:50197748

Likely pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400224619

rs_2144585835

1 SubmittersRCV002086743

NM_000089.4(COL1A2):c.2935G>C (p.Gly979Arg)

SNV
Germline

Chr7:94425849

Likely pathogenic

Osteogenesis imperfecta, perinatal lethal

Criteria Provided
Single Submitter

CA368224917

rs_2115952631

1 SubmittersRCV002071024

NM_000088.4(COL1A1):c.334-5C>T

SNV
Germline

Chr17:50199458

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type I
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA626689139

rs_115997082

3 SubmittersRCV002118307 RCV003161592 RCV005406364

NM_022167.4(XYLT2):c.1581C>A (p.Pro527=)

SNV
Germline

Chr17:50356609

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta
XYLT2-related disorder

Criteria Provided
Conflicting Classifications

CA8646489

rs_377456488

3 SubmittersRCV002166784 RCV002276995 RCV003923449

NM_000088.4(COL1A1):c.2382A>G (p.Gly794=)

SNV
Germline

Chr17:50190558

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type I
Condition: not provided

Criteria Provided
Conflicting Classifications

CA500845999

rs_2144555296

2 SubmittersRCV002163344 RCV004763336

NM_001173467.3(SP7):c.1184G>A (p.Arg395His)

SNV
Germline

Chr12:53328258

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta

Criteria Provided
Conflicting Classifications

CA6599442

rs_369792296

2 SubmittersRCV002103148 RCV002277016

NM_000088.4(COL1A1):c.3000G>C (p.Met1000Ile)

SNV
Germline

Chr17:50188948

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Osteogenesis imperfecta type I

Criteria Provided
Conflicting Classifications

CA8644619

rs_769158560

2 SubmittersRCV002434508 RCV002124661

NM_000089.4(COL1A2):c.1474A>G (p.Ile492Val)

SNV
Germline

Chr7:94412653

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4347070

rs_776551401

3 SubmittersRCV002136279 RCV005535301 RCV005631025

NM_000088.4(COL1A1):c.945C>T (p.Ala315=)

SNV
Germline

Chr17:50196326

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type I
Cardiovascular phenotype
Ehlers-Danlos syndrome
not specified
COL1A1-related disorder

Criteria Provided
Conflicting Classifications

CA8645486

rs_780242725

5 SubmittersRCV002097334 RCV002372899 RCV002277014 RCV003491033 RCV004738527

NM_000089.4(COL1A2):c.3337G>A (p.Asp1113Asn)

SNV
Germline

Chr7:94427696

Conflicting classifications of pathogenicity

Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA4347739

rs_760490617

2 SubmittersRCV002099540 RCV002324517

NM_002615.7(SERPINF1):c.99C>T (p.Pro33=)

SNV
Germline

Chr17:1769866

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta

Criteria Provided
Conflicting Classifications

CA8274537

rs_150314171

2 SubmittersRCV002141653 RCV002277026

NM_003118.4(SPARC):c.187G>A (p.Glu63Lys)

SNV
Germline

Chr5:151673150

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta
SPARC-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA3522788

rs_113617771

8 SubmittersRCV002163580 RCV002277039 RCV003916340 RCV004587318

NM_022167.4(XYLT2):c.660G>C (p.Glu220Asp)

SNV
Germline

Chr17:50354439

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta
XYLT2-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8646234

rs_571962145

4 SubmittersRCV002120920 RCV002277035 RCV003978808 RCV004965787

NM_001025295.3(IFITM5):c.34G>T (p.Ala12Ser)

SNV
Germline

Chr11:299457

Conflicting classifications of pathogenicity

Osteogenesis imperfecta
Condition: not provided
IFITM5-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5773527

rs_568880098

4 SubmittersRCV002277007 RCV002216473 RCV003958570 RCV004045609

NM_006129.5(BMP1):c.2487C>T (p.Pro829=)

SNV
Germline

Chr8:22207428

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta

Criteria Provided
Conflicting Classifications

CA4665270

rs_367978759

2 SubmittersRCV002185341 RCV002277001

NM_006129.5(BMP1):c.1416C>T (p.His472=)

SNV
Germline

Chr8:22194563

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta

Criteria Provided
Conflicting Classifications

CA4664655

rs_148614326

2 SubmittersRCV002127716 RCV002277025

NM_000088.4(COL1A1):c.103+7C>T

SNV
Germline

Chr17:50201404

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type I
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2573154178

rs_2144600046

2 SubmittersRCV002174611 RCV002174610

NM_005430.4(WNT1):c.625-5C>T

SNV
Germline

Chr12:48981147

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA604881737

rs_1207715560

4 SubmittersRCV002118907 RCV002277036 RCV003070601 RCV004587315

NM_000089.4(COL1A2):c.2136T>C (p.Gly712=)

SNV
Germline

Chr7:94420393

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Conflicting Classifications

CA456489335

rs_1228519738

2 SubmittersRCV002214439 RCV005225565

NM_000088.4(COL1A1):c.2758G>A (p.Gly920Ser)

SNV
Germline

Chr17:50189448

Likely pathogenic

Osteogenesis imperfecta

Criteria Provided
Single Submitter

CA400205684

rs_2144550235

1 SubmittersRCV002221173

NM_000088.4(COL1A1):c.1037C>T (p.Pro346Leu)

SNV
Germline

Chr17:50195942

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta type I

Criteria Provided
Conflicting Classifications

CA8645424

rs_372658559

2 SubmittersRCV002221753 RCV003120837

NM_000088.4(COL1A1):c.1399G>A (p.Gly467Arg)

SNV
Germline

Chr17:50194783

Likely pathogenic

Osteogenesis imperfecta, perinatal lethal
Osteogenesis imperfecta

Criteria Provided
Multiple Submitters
No Conflicts

CA400218368

rs_2144573313

2 SubmittersRCV002225061 RCV005235637

NM_000088.4(COL1A1):c.316G>T (p.Glu106Ter)

SNV
Germline

Chr17:50199573

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400227884

rs_2144592516

1 SubmittersRCV002225154

NM_000089.4(COL1A2):c.1018G>A (p.Gly340Ser)

SNV
Germline

Chr7:94409804

Likely pathogenic

Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2

Criteria Provided
Single Submitter

CA162920411

rs_67180473

1 SubmittersRCV002244114

NM_000089.4(COL1A2):c.1343G>A (p.Gly448Glu)

SNV
Germline

Chr7:94411147

Likely pathogenic

Osteogenesis imperfecta, perinatal lethal

Criteria Provided
Single Submitter

CA162922167

rs_72658116

1 SubmittersRCV002244124

NM_000089.4(COL1A2):c.874G>T (p.Gly292Cys)

SNV
Germline

Chr7:94409403

Pathogenic/Likely pathogenic

Osteogenesis imperfecta with normal sclerae, dominant form
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA368220687

rs_906553840

2 SubmittersRCV002244160 RCV003774692

NM_000088.4(COL1A1):c.608G>A (p.Gly203Asp)

SNV
Germline

Chr17:50197983

Pathogenic/Likely pathogenic

Infantile cortical hyperostosis
Osteogenesis imperfecta type I
Osteogenesis imperfecta with normal sclerae, dominant form

Criteria Provided
Multiple Submitters
No Conflicts

CA400225247

rs_72667031

3 SubmittersRCV002248998 RCV003631230 RCV005439068

NM_000089.4(COL1A2):c.1972-1G>T

SNV
Germline

Chr7:94418498

Likely pathogenic

Osteogenesis imperfecta, perinatal lethal

Criteria Provided
Single Submitter

CA368222983

rs_2115924241

1 SubmittersRCV002248999

NM_002615.7(SERPINF1):c.998-2A>G

SNV
Germline

Chr17:1777185

Likely pathogenic

Osteogenesis imperfecta type 6

Criteria Provided
Single Submitter

CA397590202

rs_1555572921

1 SubmittersRCV002249164

NM_000089.4(COL1A2):c.1207G>C (p.Gly403Arg)

SNV
Germline

Chr7:94410898

Pathogenic

Osteogenesis imperfecta, perinatal lethal
Osteogenesis imperfecta

Criteria Provided
Multiple Submitters
No Conflicts

CA368221378

rs_2115898280

2 SubmittersRCV002249375 RCV002277099

NM_000089.4(COL1A2):c.1900G>A (p.Gly634Ser)

SNV
Germline

Chr7:94417760

Pathogenic

Osteogenesis imperfecta, perinatal lethal

Criteria Provided
Single Submitter

CA368222832

rs_2115921523

1 SubmittersRCV002249376

NM_000088.4(COL1A1):c.3268C>T (p.Gln1090Ter)

SNV
Germline

Chr17:50187977

Pathogenic

Condition: not provided
Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400199946

rs_2144542850

2 SubmittersRCV002247217 RCV002472332

NM_000088.4(COL1A1):c.104-2A>G

SNV
Germline

Chr17:50199949

Pathogenic/Likely pathogenic

Osteogenesis imperfecta type III
Osteogenesis imperfecta type I

Criteria Provided
Multiple Submitters
No Conflicts

CA400228734

rs_2144594870

2 SubmittersRCV002250850 RCV003631231

NM_052854.4(CREB3L1):c.1186G>T (p.Glu396Ter)

SNV
Germline

Chr11:46317415

Pathogenic

Osteogenesis imperfecta type 16

Criteria Provided
Single Submitter

CA380224684

rs_747678376

1 SubmittersRCV002250968

NM_000088.4(COL1A1):c.4159G>A (p.Ala1387Thr)

SNV
Germline

Chr17:50185867

Pathogenic/Likely pathogenic

Osteogenesis imperfecta type I
Osteogenesis imperfecta type I
Osteogenesis imperfecta with normal sclerae, dominant form
Osteogenesis imperfecta, perinatal lethal
Osteogenesis imperfecta type III

Criteria Provided
Multiple Submitters
No Conflicts

CA400191818

rs_1598284183

2 SubmittersRCV003094078 RCV005252144

NM_002615.7(SERPINF1):c.1091G>A (p.Trp364Ter)

SNV
Germline

Chr17:1777280

Likely pathogenic

Osteogenesis imperfecta type 6

Criteria Provided
Single Submitter

CA8274954

rs_767448036

1 SubmittersRCV002251209

NM_006371.5(CRTAP):c.688G>T (p.Glu230Ter)

SNV
Germline

Chr3:33124474

Likely pathogenic

Osteogenesis imperfecta type 7

Criteria Provided
Single Submitter

CA352009409

rs_1488345176

1 SubmittersRCV002251213

NM_000089.4(COL1A2):c.1171G>C (p.Gly391Arg)

SNV
Germline

Chr7:94410501

Pathogenic/Likely pathogenic

Osteogenesis imperfecta with normal sclerae, dominant form
Osteogenesis imperfecta

Criteria Provided
Multiple Submitters
No Conflicts

CA368221296

rs_67707918

2 SubmittersRCV002251215 RCV005626617

NM_002615.7(SERPINF1):c.1092G>A (p.Trp364Ter)

SNV
Germline

Chr17:1777281

Likely pathogenic

Osteogenesis imperfecta type 6

Criteria Provided
Single Submitter

CA397590769

rs_2151213460

1 SubmittersRCV002251234

NM_005430.4(WNT1):c.893T>G (p.Phe298Cys)

SNV
Germline

Chr12:48981420

Likely pathogenic

Osteogenesis imperfecta type 15

Criteria Provided
Multiple Submitters
No Conflicts

CA384636831

rs_2137625459

2 SubmittersRCV002251300

NM_000089.4(COL1A2):c.1865G>T (p.Gly622Val)

SNV
Germline

Chr7:94417725

Likely pathogenic

Osteogenesis imperfecta, perinatal lethal
COL1A2-related disorder

Criteria Provided
Single Submitter

CA368222772

rs_2115921279

2 SubmittersRCV002254141 RCV003408186

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_000089.4(COL1A2):c.2380C>T (p.Arg794Trp)

SNV
Germline

Chr7:94421929

Conflicting classifications of pathogenicity

Condition: not provided
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I
Osteogenesis imperfecta with normal sclerae, dominant form
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2
Ehlers-Danlos syndrome, arthrochalasia type, 2
Osteogenesis imperfecta, perinatal lethal
Osteogenesis imperfecta type III

Criteria Provided
Conflicting Classifications

CA4347421

rs_759251034

4 SubmittersRCV002260772 RCV003095868 RCV004784044

NM_000088.4(COL1A1):c.298G>T (p.Glu100Ter)

SNV
Germline

Chr17:50199753

Likely pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400227994

rs_2144593675

1 SubmittersRCV002266131

NM_000089.4(COL1A2):c.3159+1G>A

SNV
Germline

Chr7:94427062

Likely pathogenic

Osteogenesis imperfecta, perinatal lethal
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA368225391

rs_2484737405

2 SubmittersRCV002510599 RCV003101515

NM_000942.5(PPIB):c.528+1G>C

SNV
Germline

Chr15:64156724

Likely pathogenic

Osteogenesis imperfecta

Criteria Provided
Single Submitter

CA392816766

rs_1228817029

1 SubmittersRCV002271935

NM_000089.4(COL1A2):c.2809G>T (p.Gly937Cys)

SNV
Germline

Chr7:94425637

Pathogenic

Condition: not provided
Osteogenesis imperfecta with normal sclerae, dominant form

Criteria Provided
Multiple Submitters
No Conflicts

CA162939753

rs_72659309

2 SubmittersRCV002273407 RCV005627120

NM_000089.4(COL1A2):c.1631G>C (p.Gly544Ala)

SNV
Germline

Chr7:94413913

Likely pathogenic

Osteogenesis imperfecta type III

No Assertion Criteria Provided

CA368222260

rs_72658135

1 SubmittersRCV002273900

NM_000088.4(COL1A1):c.3209G>A (p.Gly1070Asp)

SNV
Germline

Chr17:50188148

Likely pathogenic

Osteogenesis imperfecta

Criteria Provided
Single Submitter

CA400200326

rs_1275118660

1 SubmittersRCV002277761

NM_000088.4(COL1A1):c.543+1G>C

SNV
Germline

Chr17:50198432

Pathogenic

Osteogenesis imperfecta

Criteria Provided
Single Submitter

CA400225924

rs_2144588841

1 SubmittersRCV002277763

NM_000088.4(COL1A1):c.543+2T>C

SNV
Germline

Chr17:50198431

Likely pathogenic

Osteogenesis imperfecta

Criteria Provided
Single Submitter

CA400225901

rs_2144588834

1 SubmittersRCV002277764

NM_000088.4(COL1A1):c.580G>C (p.Gly194Arg)

SNV
Germline

Chr17:50198169

Pathogenic

Osteogenesis imperfecta

Criteria Provided
Single Submitter

CA291548213

rs_72667024

1 SubmittersRCV002277765

NM_000088.4(COL1A1):c.904-1G>T

SNV
Germline

Chr17:50196368

Likely pathogenic

Osteogenesis imperfecta

Criteria Provided
Single Submitter

CA400221918

rs_1907593112

1 SubmittersRCV002277767

NM_000089.4(COL1A2):c.1414G>C (p.Gly472Arg)

SNV
Germline

Chr7:94412593

Pathogenic

Osteogenesis imperfecta

Criteria Provided
Single Submitter

CA368221811

rs_121912906

1 SubmittersRCV002277774

NM_000089.4(COL1A2):c.1496G>C (p.Gly499Ala)

SNV
Germline

Chr7:94412675

Pathogenic/Likely pathogenic

Osteogenesis imperfecta
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA368221964

rs_72658122

3 SubmittersRCV002277775 RCV006558736

NM_000089.4(COL1A2):c.1838G>A (p.Gly613Glu)

SNV
Germline

Chr7:94416478

Likely pathogenic

Osteogenesis imperfecta
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA368222700

rs_2115917195

3 SubmittersRCV002277776 RCV003096230 RCV005635484

NM_000089.4(COL1A2):c.1864G>T (p.Gly622Cys)

SNV
Germline

Chr7:94417724

Pathogenic/Likely pathogenic

Osteogenesis imperfecta
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Multiple Submitters
No Conflicts

CA368222768

rs_2115921275

2 SubmittersRCV002277777 RCV003774894

NM_000089.4(COL1A2):c.2270G>A (p.Gly757Asp)

SNV
Germline

Chr7:94420623

Likely pathogenic

Osteogenesis imperfecta

Criteria Provided
Single Submitter

CA368223599

rs_72658178

1 SubmittersRCV002277779

NM_000089.4(COL1A2):c.2314G>T (p.Gly772Cys)

SNV
Germline

Chr7:94421027

Pathogenic

Osteogenesis imperfecta

Criteria Provided
Single Submitter

CA368223685

rs_72658185

1 SubmittersRCV002277780

NM_000089.4(COL1A2):c.2396G>A (p.Gly799Glu)

SNV
Germline

Chr7:94421945

Pathogenic

Osteogenesis imperfecta

Criteria Provided
Single Submitter

CA368223842

rs_2115937116

1 SubmittersRCV002277781

NM_000089.4(COL1A2):c.486+2T>G

SNV
Germline

Chr7:94405254

Likely pathogenic

Osteogenesis imperfecta
Ehlers-Danlos syndrome

Criteria Provided
Single Submitter

CA368219873

rs_2115877489

1 SubmittersRCV002277782 RCV002277783

NM_000089.4(COL1A2):c.713G>T (p.Gly238Val)

SNV
Germline

Chr7:94408355

Likely pathogenic

Osteogenesis imperfecta

Criteria Provided
Single Submitter

CA368220372

rs_1188265845

1 SubmittersRCV002277784

NM_000089.4(COL1A2):c.866G>C (p.Gly289Ala)

SNV
Germline

Chr7:94409395

Conflicting classifications of pathogenicity

Osteogenesis imperfecta
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Conflicting Classifications

CA162919710

rs_67031201

2 SubmittersRCV002277786 RCV005227564

NM_006371.5(CRTAP):c.16C>A (p.Arg6=)

SNV
Germline

Chr3:33114093

Conflicting classifications of pathogenicity

Osteogenesis imperfecta
Osteogenesis imperfecta type 7

Criteria Provided
Conflicting Classifications

CA433062868

rs_1701306755

2 SubmittersRCV002277787 RCV003611574

NM_000478.6(ALPL):c.677T>C (p.Met226Thr)

SNV
Germline

Chr1:21568132

Conflicting classifications of pathogenicity

Osteogenesis imperfecta
Condition: not provided
Hypophosphatasia

Criteria Provided
Conflicting Classifications

CA666580

rs_752641050

4 SubmittersRCV002277788 RCV003560918 RCV005645371

NM_021939.4(FKBP10):c.915C>T (p.Ser305=)

SNV
Germline

Chr17:41819397

Conflicting classifications of pathogenicity

Osteogenesis imperfecta
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8566404

rs_781996509

2 SubmittersRCV002277792 RCV003774895

NM_002335.4(LRP5):c.1A>G (p.Met1Val)

SNV
Germline

Chr11:68312715

Pathogenic/Likely pathogenic

Osteogenesis imperfecta
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA381607176

rs_2153110162

3 SubmittersRCV002277797 RCV003546748

NM_002335.4(LRP5):c.209T>A (p.Phe70Tyr)

SNV
Germline

Chr11:68347964

Pathogenic

Osteogenesis imperfecta

Criteria Provided
Single Submitter

CA381610287

rs_2153129403

1 SubmittersRCV002277798

NM_002335.4(LRP5):c.210C>A (p.Phe70Leu)

SNV
Germline

Chr11:68347965

Pathogenic

Osteogenesis imperfecta

Criteria Provided
Single Submitter

CA381610290

rs_771043544

1 SubmittersRCV002277799

NM_002335.4(LRP5):c.2413C>T (p.Arg805Trp)

SNV
Germline

Chr11:68411530

Conflicting classifications of pathogenicity

Osteogenesis imperfecta
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6149629

rs_765952535

2 SubmittersRCV002277800 RCV003096231

NM_002335.4(LRP5):c.3834G>A (p.Trp1278Ter)

SNV
Germline

Chr11:68433672

Pathogenic/Likely pathogenic

Osteogenesis imperfecta
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA381613719

rs_2098673217

2 SubmittersRCV002277804 RCV003096233

NM_002335.4(LRP5):c.4230G>A (p.Val1410=)

SNV
Germline

Chr11:68438564

Conflicting classifications of pathogenicity

Osteogenesis imperfecta
Condition: not provided
LRP5-related disorder

Criteria Provided
Conflicting Classifications

CA475516855

rs_752100031

3 SubmittersRCV002277806 RCV003774896 RCV003971223

NM_002335.4(LRP5):c.4236C>T (p.Cys1412=)

SNV
Germline

Chr11:68438570

Conflicting classifications of pathogenicity

Osteogenesis imperfecta
Condition: not provided

Criteria Provided
Conflicting Classifications

CA224254691

rs_750573655

2 SubmittersRCV002277807 RCV003096235

NM_006129.5(BMP1):c.1095G>A (p.Thr365=)

SNV
Germline

Chr8:22192066

Conflicting classifications of pathogenicity

Osteogenesis imperfecta
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4664546

rs_370391413

2 SubmittersRCV002277809 RCV003096237

NM_000478.6(ALPL):c.1103C>T (p.Ser368Leu)

SNV
Germline

Chr1:21575838

Conflicting classifications of pathogenicity

Osteogenesis imperfecta
Condition: not provided
Childhood hypophosphatasia
Adult hypophosphatasia
Infantile hypophosphatasia
Infantile hypophosphatasia

Criteria Provided
Conflicting Classifications

CA666732

rs_368809478

4 SubmittersRCV002277811 RCV003096238 RCV005356077 RCV004784046

NM_002335.4(LRP5):c.884-2A>G

SNV
Germline

Chr11:68365569

Likely pathogenic

Osteogenesis imperfecta
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA381611335

rs_2153140527

2 SubmittersRCV002277813 RCV005095997

NM_015884.4(MBTPS2):c.671-10C>G

SNV
Germline

ChrX:21868457

Conflicting classifications of pathogenicity

Osteogenesis imperfecta
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10367583

rs_751755276

2 SubmittersRCV002277814 RCV003096239

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
not specified

Criteria Provided
Conflicting Classifications

CA801506

rs_775626323

3 SubmittersRCV002277822 RCV003495270 RCV006454190

NM_002615.7(SERPINF1):c.426C>T (p.Ile142=)

SNV
Germline

Chr17:1771171

Conflicting classifications of pathogenicity

Osteogenesis imperfecta
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8274673

rs_747222233

2 SubmittersRCV002277837 RCV003774897

NM_002615.7(SERPINF1):c.439+7C>T

SNV
Germline

Chr17:1771191

Conflicting classifications of pathogenicity

Osteogenesis imperfecta
SERPINF1-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8274681

rs_766814533

3 SubmittersRCV002277838 RCV003903663 RCV003718470

NM_002615.7(SERPINF1):c.609C>T (p.Ile203=)

SNV
Germline

Chr17:1772041

Conflicting classifications of pathogenicity

Osteogenesis imperfecta
Condition: not provided
SERPINF1-related disorder

Criteria Provided
Conflicting Classifications

CA8274751

rs_765207911

3 SubmittersRCV002277839 RCV003120875 RCV003971224

NM_002615.7(SERPINF1):c.787-10C>G

SNV
Germline

Chr17:1776522

Likely pathogenic

Osteogenesis imperfecta

Criteria Provided
Single Submitter

CA2580092453

rs_1908037067

1 SubmittersRCV002277841

NM_001235.5(SERPINH1):c.843T>C (p.Leu281=)

SNV
Germline

Chr11:75569060

Conflicting classifications of pathogenicity

Osteogenesis imperfecta
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6190941

rs_544719966

2 SubmittersRCV002277845 RCV003698898

NM_001173467.3(SP7):c.855G>A (p.Ala285=)

SNV
Germline

Chr12:53328587

Conflicting classifications of pathogenicity

Osteogenesis imperfecta
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6599511

rs_561083858

2 SubmittersRCV002277850 RCV003096243

NM_018112.3(TMEM38B):c.341C>T (p.Ala114Val)

SNV
Germline

Chr9:105721608

Conflicting classifications of pathogenicity

Osteogenesis imperfecta
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5170849

rs_199758976

3 SubmittersRCV002277853 RCV003096244

NM_005430.4(WNT1):c.27C>T (p.Gly9=)

SNV
Germline

Chr12:48978677

Conflicting classifications of pathogenicity

Osteogenesis imperfecta
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6544301

rs_772782141

2 SubmittersRCV002277857 RCV005058219

NM_022167.4(XYLT2):c.1623C>T (p.Tyr541=)

SNV
Germline

Chr17:50356651

Conflicting classifications of pathogenicity

Osteogenesis imperfecta
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8646508

rs_750349082

2 SubmittersRCV002277860 RCV003774898

NM_022167.4(XYLT2):c.1923C>T (p.Ser641=)

SNV
Germline

Chr17:50357234

Conflicting classifications of pathogenicity

Osteogenesis imperfecta
Condition: not provided
XYLT2-related disorder

Criteria Provided
Conflicting Classifications

CA8646598

rs_778642140

3 SubmittersRCV002277861 RCV003096246 RCV003960981

NM_022167.4(XYLT2):c.1998G>A (p.Leu666=)

SNV
Germline

Chr17:50358263

Conflicting classifications of pathogenicity

Osteogenesis imperfecta
Condition: not provided
XYLT2-related disorder

Criteria Provided
Conflicting Classifications

CA8646638

rs_140443495

3 SubmittersRCV002277863 RCV003101576 RCV003933738

NM_006129.5(BMP1):c.717G>A (p.Glu239=)

SNV
Germline

Chr8:22177126

Conflicting classifications of pathogenicity

Osteogenesis imperfecta
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4664337

rs_149856199

2 SubmittersRCV002277873 RCV003546750

NM_000088.4(COL1A1):c.1057-2A>T

SNV
Germline

Chr17:50195667

Pathogenic/Likely pathogenic

Osteogenesis imperfecta
Osteogenesis imperfecta type I

Criteria Provided
Multiple Submitters
No Conflicts

CA400220334

rs_66511271

2 SubmittersRCV002277875 RCV003096249

NM_000088.4(COL1A1):c.1102G>T (p.Gly368Cys)

SNV
Germline

Chr17:50195620

Pathogenic

Osteogenesis imperfecta

Criteria Provided
Single Submitter

CA400219944

rs_72645367

1 SubmittersRCV002277876

NM_000478.6(ALPL):c.1232C>T (p.Thr411Ile)

SNV
Germline

Chr1:21576564

Conflicting classifications of pathogenicity

Osteogenesis imperfecta
Condition: not provided

Criteria Provided
Conflicting Classifications

CA338881747

rs_2148192417

2 SubmittersRCV002277877 RCV005095998

NM_000088.4(COL1A1):c.1614+1G>T

SNV
Germline

Chr17:50194348

Pathogenic/Likely pathogenic

Osteogenesis imperfecta
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA400216265

rs_72648357

2 SubmittersRCV002277881 RCV006262402

NM_000088.4(COL1A1):c.1948G>C (p.Gly650Arg)

SNV
Germline

Chr17:50192510

Likely pathogenic

Osteogenesis imperfecta

Criteria Provided
Single Submitter

CA291544213

rs_72651626

1 SubmittersRCV002277883

NM_000088.4(COL1A1):c.1984-2A>C

SNV
Germline

Chr17:50192026

Pathogenic

Osteogenesis imperfecta

Criteria Provided
Single Submitter

CA291544097

rs_72651632

1 SubmittersRCV002277884

NM_000088.4(COL1A1):c.1984-6C>G

SNV
Germline

Chr17:50192030

Conflicting classifications of pathogenicity

Osteogenesis imperfecta
Osteogenesis imperfecta type I

Criteria Provided
Conflicting Classifications

CA8644973

rs_373873548

2 SubmittersRCV002277885 RCV003096250

NM_000088.4(COL1A1):c.2074G>T (p.Gly692Cys)

SNV
Germline

Chr17:50191841

Likely pathogenic

Osteogenesis imperfecta

Criteria Provided
Single Submitter

CA400211837

rs_1907108266

1 SubmittersRCV002277886

NM_000088.4(COL1A1):c.2507G>A (p.Gly836Asp)

SNV
Germline

Chr17:50190053

Likely pathogenic

Osteogenesis imperfecta

Criteria Provided
Single Submitter

CA400207705

rs_72653130

1 SubmittersRCV002277890

NM_000088.4(COL1A1):c.2560-1G>A

SNV
Germline

Chr17:50189913

Pathogenic

Osteogenesis imperfecta
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA291543274

rs_72653139

2 SubmittersRCV002277892 RCV005421240

NM_000088.4(COL1A1):c.2560-5T>C

SNV
Germline

Chr17:50189917

Conflicting classifications of pathogenicity

Ehlers-Danlos syndrome
Osteogenesis imperfecta
Osteogenesis imperfecta type I

Criteria Provided
Conflicting Classifications

CA2576317215

rs_2144552369

2 SubmittersRCV002277894 RCV002277893 RCV003517362

NM_000088.4(COL1A1):c.2643C>G (p.Gly881=)

SNV
Germline

Chr17:50189703

Conflicting classifications of pathogenicity

Osteogenesis imperfecta
Cardiovascular phenotype
Osteogenesis imperfecta type I

Criteria Provided
Conflicting Classifications

CA500992262

rs_1414204760

3 SubmittersRCV002277895 RCV003365725 RCV003631235

NM_000088.4(COL1A1):c.1011C>T (p.Thr337=)

SNV
Germline

Chr17:50195968

Conflicting classifications of pathogenicity

Ehlers-Danlos syndrome
Cardiovascular phenotype
Osteogenesis imperfecta type I

Criteria Provided
Conflicting Classifications

CA291547038

rs_774708577

3 SubmittersRCV002277954 RCV002454606 RCV003101584

NM_000088.4(COL1A1):c.1845G>T (p.Glu615Asp)

SNV
Germline

Chr17:50192827

Conflicting classifications of pathogenicity

Ehlers-Danlos syndrome
COL1A1-related disorder
Osteogenesis imperfecta type I
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8645061

rs_769791947

4 SubmittersRCV002277956 RCV004548257 RCV003631236 RCV006553161

NM_000088.4(COL1A1):c.2284G>C (p.Val762Leu)

SNV
Germline

Chr17:50190876

Conflicting classifications of pathogenicity

Ehlers-Danlos syndrome
Osteogenesis imperfecta type I
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8644878

rs_138749826

4 SubmittersRCV002277958 RCV003517363 RCV004546716

NM_000088.4(COL1A1):c.2608C>T (p.Pro870Ser)

SNV
Germline

Chr17:50189864

Conflicting classifications of pathogenicity

Ehlers-Danlos syndrome
Osteogenesis imperfecta type I

Criteria Provided
Conflicting Classifications

CA8644744

rs_771918127

2 SubmittersRCV002277960 RCV005096002

NM_000089.4(COL1A2):c.105C>T (p.Ala35=)

SNV
Germline

Chr7:94399057

Conflicting classifications of pathogenicity

Ehlers-Danlos syndrome
Cardiovascular phenotype
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Conflicting Classifications

CA4346487

rs_533917998

3 SubmittersRCV002277971 RCV004990760 RCV006558737

NM_000089.4(COL1A2):c.150A>G (p.Pro50=)

SNV
Germline

Chr7:94400213

Conflicting classifications of pathogenicity

Ehlers-Danlos syndrome
Cardiovascular phenotype
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Conflicting Classifications

CA456486435

rs_369695645

3 SubmittersRCV002277974 RCV002391392 RCV003774903

NM_000089.4(COL1A2):c.2737G>A (p.Gly913Ser)

SNV
Germline

Chr7:94425180

Likely pathogenic

Ehlers-Danlos syndrome
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Multiple Submitters
No Conflicts

CA368224507

rs_1305819869

2 SubmittersRCV002277978 RCV003774904

NM_000089.4(COL1A2):c.300C>T (p.Gly100=)

SNV
Germline

Chr7:94404576

Conflicting classifications of pathogenicity

Ehlers-Danlos syndrome
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA4346617

rs_751107938

3 SubmittersRCV002277980 RCV003774906 RCV004990761

NM_000088.4(COL1A1):c.1867G>A (p.Gly623Ser)

SNV
Germline

Chr17:50192805

Likely pathogenic

Osteogenesis imperfecta, perinatal lethal

Criteria Provided
Single Submitter

CA400214781

rs_2144564489

1 SubmittersRCV002278850

NM_000088.4(COL1A1):c.1156G>A (p.Gly386Arg)

SNV
Germline

Chr17:50195478

Likely pathogenic

Osteogenesis imperfecta

Criteria Provided
Single Submitter

CA291546806

rs_868850286

1 SubmittersRCV002282766

NM_182943.3(PLOD2):c.1958C>G (p.Pro653Arg)

SNV
Germline

Chr3:146071314

Conflicting classifications of pathogenicity

Bruck syndrome 2
Condition: not provided
Osteogenesis imperfecta

Criteria Provided
Conflicting Classifications

CA84500173

rs_967744523

3 SubmittersRCV002283921 RCV003096377 RCV005239348

NM_000088.4(COL1A1):c.178A>T (p.Ile60Phe)

SNV
Germline

Chr17:50199873

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta type I

Criteria Provided
Conflicting Classifications

CA8645815

rs_544922468

2 SubmittersRCV002286018 RCV005096049

NM_000089.4(COL1A2):c.1351G>A (p.Gly451Ser)

SNV
Germline

Chr7:94412068

Pathogenic

Osteogenesis imperfecta with normal sclerae, dominant form

No Assertion Criteria Provided

CA368221680

rs_2484712486

1 SubmittersRCV002287637

NM_000089.4(COL1A2):c.838G>T (p.Gly280Cys)

SNV
Germline

Chr7:94409367

Pathogenic/Likely pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
See cases
Osteogenesis imperfecta type III

Criteria Provided
Multiple Submitters
No Conflicts

CA368220623

rs_72656387

3 SubmittersRCV003097730 RCV004584526 RCV005627121

NM_000089.4(COL1A2):c.4060C>T (p.Gln1354Ter)

SNV
Germline

Chr7:94430352

Pathogenic/Likely pathogenic

See cases
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA368227358

rs_2484743799

2 SubmittersRCV002287765 RCV005227575

NM_000088.4(COL1A1):c.4006-1G>A

SNV
Germline

Chr17:50186021

Pathogenic

Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1
Osteogenesis imperfecta type I

Criteria Provided
Multiple Submitters
No Conflicts

CA400192896

rs_2509157718

2 SubmittersRCV002287870 RCV003097736

NM_000088.4(COL1A1):c.3531+1G>T

SNV
Germline

Chr17:50187014

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400198469

rs_72656326

1 SubmittersRCV002288400

NM_000089.4(COL1A2):c.3355G>A (p.Ala1119Thr)

SNV
Germline

Chr7:94427714

Pathogenic/Likely pathogenic

Osteogenesis imperfecta with normal sclerae, dominant form
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA368225797

rs_193922168

2 SubmittersRCV002289163 RCV002325721

NM_000089.4(COL1A2):c.2673+1G>T

SNV
Germline

Chr7:94424444

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA368224382

rs_1085307477

1 SubmittersRCV002289306

NM_000089.4(COL1A2):c.693+5G>A

SNV
Germline

Chr7:94408241

Conflicting classifications of pathogenicity

Condition: not provided
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2

Criteria Provided
Conflicting Classifications

CA2580060348

rs_2484705751

2 SubmittersRCV002463195 RCV002289496

NM_000089.4(COL1A2):c.1018G>C (p.Gly340Arg)

SNV
Germline

Chr7:94409804

Pathogenic

Osteogenesis imperfecta type III

Criteria Provided
Single Submitter

CA162920412

rs_67180473

1 SubmittersRCV002290284

NM_000088.4(COL1A1):c.3434G>T (p.Gly1145Val)

SNV
Germline

Chr17:50187112

Likely pathogenic

Osteogenesis imperfecta, perinatal lethal

Criteria Provided
Single Submitter

CA400198983

rs_72656319

1 SubmittersRCV002290364

NM_000088.4(COL1A1):c.529G>A (p.Val177Met)

SNV
Germline

Chr17:50198447

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta type I

Criteria Provided
Conflicting Classifications

CA8645680

rs_537060488

2 SubmittersRCV002293608 RCV003517367

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_000088.4(COL1A1):c.608G>C (p.Gly203Ala)

SNV
Germline

Chr17:50197983

Likely pathogenic

Osteogenesis imperfecta

Criteria Provided
Single Submitter

CA400225244

rs_72667031

1 SubmittersRCV002302612

NM_000089.4(COL1A2):c.1199G>A (p.Gly400Asp)

SNV
Germline

Chr7:94410890

Pathogenic

Condition: not provided
Osteogenesis imperfecta type III

Criteria Provided
Multiple Submitters
No Conflicts

CA368221360

rs_1215651130

2 SubmittersRCV002308889 RCV005627122

NM_000088.4(COL1A1):c.3667G>A (p.Val1223Met)

SNV
Germline

Chr17:50186787

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Osteogenesis imperfecta type I

Criteria Provided
Conflicting Classifications

CA400197309

rs_1402759053

2 SubmittersRCV002452610 RCV006470588

NM_000088.4(COL1A1):c.3674G>A (p.Arg1225His)

SNV
Germline

Chr17:50186780

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
Osteogenesis imperfecta type I

Criteria Provided
Conflicting Classifications

CA8644377

rs_775208392

4 SubmittersRCV002452680 RCV003481276 RCV003631244

NM_000088.4(COL1A1):c.4383C>A (p.Val1461=)

SNV
Germline

Chr17:50185514

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
Osteogenesis imperfecta type I

Criteria Provided
Conflicting Classifications

CA8644166

rs_759080989

3 SubmittersRCV002333591 RCV004779302 RCV005096555

NM_000089.4(COL1A2):c.3123A>G (p.Gln1041=)

SNV
Germline

Chr7:94427025

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Conflicting Classifications

CA4347677

rs_568762540

2 SubmittersRCV002320510 RCV006558920

NM_000088.4(COL1A1):c.3261C>T (p.Ala1087=)

SNV
Germline

Chr17:50188096

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Osteogenesis imperfecta type I

Criteria Provided
Conflicting Classifications

CA8644505

rs_777989389

2 SubmittersRCV002324970 RCV003120895

NM_000088.4(COL1A1):c.3758A>G (p.Lys1253Arg)

SNV
Germline

Chr17:50186696

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Osteogenesis imperfecta type I

Criteria Provided
Conflicting Classifications

CA400196414

rs_1176922412

2 SubmittersRCV002363825 RCV003102434

NM_000088.4(COL1A1):c.71A>G (p.Glu24Gly)

SNV
Germline

Chr17:50201443

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Osteogenesis imperfecta type I

Criteria Provided
Conflicting Classifications

CA8645882

rs_201920416

2 SubmittersRCV002370833 RCV003098498

NM_000088.4(COL1A1):c.1259C>G (p.Pro420Arg)

SNV
Germline

Chr17:50195272

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Osteogenesis imperfecta type I
Condition: not provided

Criteria Provided
Conflicting Classifications

CA400218728

rs_1407160641

4 SubmittersRCV002427997 RCV003099871 RCV004592986

NM_000088.4(COL1A1):c.6C>T (p.Phe2=)

SNV
Germline

Chr17:50201508

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
Osteogenesis imperfecta type I

Criteria Provided
Conflicting Classifications

CA8645895

rs_776596093

3 SubmittersRCV002364773 RCV003443043 RCV005097046

NM_000089.4(COL1A2):c.133-5A>G

SNV
Germline

Chr7:94400191

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Conflicting Classifications

CA4346530

rs_773839903

2 SubmittersRCV002387572 RCV003094987

NM_000088.4(COL1A1):c.1056+2T>C

SNV
Germline

Chr17:50195921

Pathogenic/Likely pathogenic

Cardiovascular phenotype
Osteogenesis imperfecta type I
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA8645421

rs_750203677

3 SubmittersRCV002398831 RCV003631263 RCV005051972

NM_000088.4(COL1A1):c.1951C>T (p.Pro651Ser)

SNV
Germline

Chr17:50192507

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Osteogenesis imperfecta type I

Criteria Provided
Conflicting Classifications

CA8645001

rs_774045142

2 SubmittersRCV002421555 RCV003097378

NM_000088.4(COL1A1):c.2323G>A (p.Ala775Thr)

SNV
Germline

Chr17:50190837

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Osteogenesis imperfecta type I

Criteria Provided
Conflicting Classifications

CA8644872

rs_780905804

2 SubmittersRCV002457586 RCV003517435

NM_000088.4(COL1A1):c.1427G>T (p.Gly476Val)

SNV
Germline

Chr17:50194755

Likely pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400217714

rs_2509222123

1 SubmittersRCV002466865

NM_000088.4(COL1A1):c.299-2A>G

SNV
Germline

Chr17:50199592

Pathogenic

Osteogenesis imperfecta, perinatal lethal

Criteria Provided
Single Submitter

CA400227954

rs_2509256363

1 SubmittersRCV002466942

NM_000088.4(COL1A1):c.806G>C (p.Gly269Ala)

SNV
Unknown

Chr17:50196669

Likely pathogenic

Osteogenesis imperfecta type I

No Assertion Criteria Provided

CA400222707

rs_72645329

1 SubmittersRCV002467484

NM_000088.4(COL1A1):c.141C>G (p.Tyr47Ter)

SNV
Unknown

Chr17:50199910

Likely pathogenic

Osteogenesis imperfecta type I

No Assertion Criteria Provided

CA400228604

rs_2509259501

1 SubmittersRCV002467486

NM_000089.4(COL1A2):c.2738G>A (p.Gly913Asp)

SNV
Germline

Chr7:94425181

Pathogenic/Likely pathogenic

Osteogenesis imperfecta type I
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA368224510

rs_886042129

3 SubmittersRCV002469938 RCV002571441 RCV003234205

NM_000088.4(COL1A1):c.697-2A>C

SNV
Germline

Chr17:50197235

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400224351

rs_67047253

1 SubmittersRCV002471342

NM_000088.4(COL1A1):c.2938-1G>A

SNV
Germline

Chr17:50189011

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400204455

rs_2509180826

2 SubmittersRCV002472335

NM_000088.4(COL1A1):c.4183G>T (p.Glu1395Ter)

SNV
Unknown

Chr17:50185843

Likely pathogenic

Osteogenesis imperfecta type I

No Assertion Criteria Provided

CA400191720

rs_373474549

1 SubmittersRCV002472337

NM_000088.4(COL1A1):c.3119G>C (p.Gly1040Ala)

SNV
Unknown

Chr17:50188618

Likely pathogenic

Osteogenesis imperfecta type III

No Assertion Criteria Provided

CA400201377

rs_2509177731

1 SubmittersRCV002472340

NM_000089.4(COL1A2):c.1612G>A (p.Gly538Ser)

SNV
Unknown

Chr7:94413894

Likely pathogenic

Osteogenesis imperfecta type I

No Assertion Criteria Provided

CA368222220

rs_866589638

1 SubmittersRCV002472343

NM_000089.4(COL1A2):c.1657G>T (p.Gly553Cys)

SNV
Unknown

Chr7:94413939

Likely pathogenic

Osteogenesis imperfecta with normal sclerae, dominant form

No Assertion Criteria Provided

CA368222305

rs_2484716097

1 SubmittersRCV002472344

NM_000089.4(COL1A2):c.2854G>A (p.Gly952Ser)

SNV
Unknown

Chr7:94425768

Likely pathogenic

Osteogenesis imperfecta type III

No Assertion Criteria Provided

CA368224762

rs_2484734751

1 SubmittersRCV002472345

NM_000089.4(COL1A2):c.3142G>A (p.Gly1048Ser)

SNV
Unknown

Chr7:94427044

Likely pathogenic

Osteogenesis imperfecta type I

No Assertion Criteria Provided

CA368225357

rs_1329724571

1 SubmittersRCV002472346

NM_000089.4(COL1A2):c.3159G>A (p.Arg1053=)

SNV
Unknown

Chr7:94427061

Likely pathogenic

Osteogenesis imperfecta with normal sclerae, dominant form

No Assertion Criteria Provided

CA456490438

rs_2484737404

2 SubmittersRCV002472347

NM_000088.4(COL1A1):c.3208-19C>T

SNV
Germline

Chr17:50188168

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta type I
not specified

Criteria Provided
Conflicting Classifications

CA626485770

rs_1411750377

3 SubmittersRCV002475084 RCV005058879 RCV006262488

NM_000089.4(COL1A2):c.2450G>A (p.Gly817Glu)

SNV
Germline

Chr7:94423003

Pathogenic/Likely pathogenic

Condition: not provided
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA368223959

rs_2484729427

2 SubmittersRCV002475094 RCV006559484

NM_000089.4(COL1A2):c.353G>A (p.Gly118Asp)

SNV
Germline

Chr7:94404721

Pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Single Submitter

CA162914240

rs_72656358

1 SubmittersRCV003037237

NM_000089.4(COL1A2):c.433-1G>C

SNV
Germline

Chr7:94405198

Pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Single Submitter

CA162914951

rs_72656365

1 SubmittersRCV003060124

NM_000089.4(COL1A2):c.577G>C (p.Gly193Arg)

SNV
Germline

Chr7:94406286

Pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Single Submitter

CA368220079

rs_72656370

1 SubmittersRCV003037238

NM_000089.4(COL1A2):c.587G>T (p.Gly196Val)

SNV
Germline

Chr7:94406296

Pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Single Submitter

CA368220099

rs_2484702812

1 SubmittersRCV003060125

NM_000089.4(COL1A2):c.1009G>T (p.Gly337Cys)

SNV
Germline

Chr7:94409795

Pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Single Submitter

CA162920401

rs_67865220

1 SubmittersRCV003037240

NM_000089.4(COL1A2):c.1197+5G>C

SNV
Germline

Chr7:94410532

Pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Single Submitter

CA162921231

rs_68132885

1 SubmittersRCV003060126

NM_000089.4(COL1A2):c.1478G>T (p.Gly493Val)

SNV
Germline

Chr7:94412657

Pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Single Submitter

CA368221927

rs_72658121

1 SubmittersRCV003060127

NM_000089.4(COL1A2):c.1549G>A (p.Gly517Ser)

SNV
Germline

Chr7:94413128

Pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA368222079

rs_72658126

2 SubmittersRCV003037241 RCV003138462

NM_000089.4(COL1A2):c.1648G>A (p.Gly550Ser)

SNV
Germline

Chr7:94413930

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta with normal sclerae, dominant form

Criteria Provided
Conflicting Classifications

CA368222289

rs_2484716070

2 SubmittersRCV003060128 RCV003152809

NM_000089.4(COL1A2):c.1693G>A (p.Gly565Ser)

SNV
Germline

Chr7:94414249

Pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Single Submitter

CA368222389

rs_2484716774

1 SubmittersRCV003060129

NM_000089.4(COL1A2):c.2081G>A (p.Gly694Asp)

SNV
Germline

Chr7:94420234

Pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
Condition: not provided
Osteogenesis imperfecta type III
Ehlers-Danlos syndrome, cardiac valvular type

Criteria Provided
Multiple Submitters
No Conflicts

CA368223209

rs_2484725181

4 SubmittersRCV003060131 RCV004719287 RCV005627126 RCV006460386

NM_000089.4(COL1A2):c.2835+1G>T

SNV
Germline

Chr7:94425664

Pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Single Submitter

CA368224720

rs_72659310

1 SubmittersRCV003037243

NM_000089.4(COL1A2):c.2918G>A (p.Gly973Asp)

SNV
Germline

Chr7:94425832

Pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Single Submitter

CA162939985

rs_67609234

1 SubmittersRCV003037244

NM_000088.4(COL1A1):c.4193T>G (p.Ile1398Ser)

SNV
Germline

Chr17:50185833

Likely pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400191667

rs_2509155661

1 SubmittersRCV003050484

NM_000088.4(COL1A1):c.4051C>T (p.Gln1351Ter)

SNV
Germline

Chr17:50185975

Pathogenic

Osteogenesis imperfecta type I
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA400192617

rs_2509157160

2 SubmittersRCV003064465 RCV003111617

NM_000088.4(COL1A1):c.4005+1G>C

SNV
Germline

Chr17:50186316

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA291542842

rs_113984451

1 SubmittersRCV003064466

NM_000088.4(COL1A1):c.3531+2T>C

SNV
Germline

Chr17:50187013

Pathogenic/Likely pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Multiple Submitters
No Conflicts

CA400198461

rs_2509166330

2 SubmittersRCV003064467

NM_000088.4(COL1A1):c.2560G>A (p.Gly854Ser)

SNV
Germline

Chr17:50189912

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA291543272

rs_72653140

1 SubmittersRCV003041315

NM_000088.4(COL1A1):c.2559+1G>A

SNV
Germline

Chr17:50190000

Pathogenic

Osteogenesis imperfecta type I
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA400207453

rs_2509188024

2 SubmittersRCV003041316 RCV003332400

NM_000088.4(COL1A1):c.2245G>A (p.Gly749Ser)

SNV
Germline

Chr17:50190915

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400210474

rs_2509194385

1 SubmittersRCV003041317

NM_000088.4(COL1A1):c.1876-1G>A

SNV
Germline

Chr17:50192694

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400213978

rs_72651623

1 SubmittersRCV003050486

NM_000088.4(COL1A1):c.1787G>C (p.Gly596Ala)

SNV
Germline

Chr17:50193028

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400214937

rs_1402406091

1 SubmittersRCV003064468

NM_000088.4(COL1A1):c.1300-1G>A

SNV
Germline

Chr17:50195101

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Multiple Submitters
No Conflicts

CA400218617

rs_2509224398

2 SubmittersRCV003064469

NM_000088.4(COL1A1):c.1057-2A>C

SNV
Germline

Chr17:50195667

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Multiple Submitters
No Conflicts

CA291546917

rs_66511271

2 SubmittersRCV003064470

NM_000088.4(COL1A1):c.1056+1G>A

SNV
Germline

Chr17:50195922

Pathogenic

Osteogenesis imperfecta type I
Condition: not provided
Uterine corpus endometrial carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA291547009

rs_72645364

3 SubmittersRCV003050487 RCV005051998 RCV005930325

NM_000088.4(COL1A1):c.904-10T>A

SNV
Germline

Chr17:50196377

Likely pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA291547242

rs_72645344

1 SubmittersRCV003064471

NM_000088.4(COL1A1):c.858+1G>A

SNV
Germline

Chr17:50196616

Pathogenic

Osteogenesis imperfecta type I
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA291547379

rs_67569268

2 SubmittersRCV003041318 RCV006251176

NM_000088.4(COL1A1):c.670G>T (p.Gly224Cys)

SNV
Germline

Chr17:50197758

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA291547906

rs_72667038

1 SubmittersRCV003041320

NM_000088.4(COL1A1):c.634G>A (p.Gly212Arg)

SNV
Germline

Chr17:50197957

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA291548077

rs_72667034

1 SubmittersRCV003050488

NM_000088.4(COL1A1):c.588+5G>A

SNV
Germline

Chr17:50198156

Pathogenic/Likely pathogenic

Osteogenesis imperfecta type I
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA2580094367

rs_2509247867

2 SubmittersRCV003050489 RCV004786808

NM_000088.4(COL1A1):c.333+1G>T

SNV
Germline

Chr17:50199555

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400227768

rs_2144592402

1 SubmittersRCV003064475

NM_000088.4(COL1A1):c.299-1G>C

SNV
Germline

Chr17:50199591

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400227952

rs_1598301619

1 SubmittersRCV003064476

NM_000088.4(COL1A1):c.189C>A (p.Cys63Ter)

SNV
Germline

Chr17:50199862

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400228436

rs_779952705

1 SubmittersRCV003064477

NM_000088.4(COL1A1):c.3535C>T (p.Pro1179Ser)

SNV
Germline

Chr17:50186919

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type I
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8644403

rs_779767483

2 SubmittersRCV003063531 RCV004790345

NM_000088.4(COL1A1):c.2684C>T (p.Pro895Leu)

SNV
Germline

Chr17:50189522

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type I
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA291543207

rs_1033263382

2 SubmittersRCV003093603 RCV006342773

NM_000088.4(COL1A1):c.3155G>C (p.Gly1052Ala)

SNV
Germline

Chr17:50188582

Pathogenic

Osteogenesis imperfecta type I
Osteogenesis imperfecta with normal sclerae, dominant form

Criteria Provided
Multiple Submitters
No Conflicts

CA400201057

rs_2509177392

2 SubmittersRCV003072872 RCV005604811

NM_000088.4(COL1A1):c.653G>T (p.Gly218Val)

SNV
Germline

Chr17:50197775

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400224789

rs_2509245447

1 SubmittersRCV003087405

NM_000089.4(COL1A2):c.2576G>A (p.Gly859Asp)

SNV
Germline

Chr7:94424346

Pathogenic

Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA368224198

rs_2484731890

1 SubmittersRCV003079083

NM_000089.4(COL1A2):c.451G>A (p.Gly151Arg)

SNV
Germline

Chr7:94405217

Pathogenic/Likely pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
COL1A2-related disorder
Osteogenesis imperfecta type I

Criteria Provided
Multiple Submitters
No Conflicts

CA368219797

rs_1381927942

3 SubmittersRCV003074955 RCV004725509 RCV005627127

NM_006371.5(CRTAP):c.794-1G>C

SNV
Germline

Chr3:33129938

Likely pathogenic

Osteogenesis imperfecta type 7

Criteria Provided
Single Submitter

CA2300412

rs_775037541

1 SubmittersRCV003082455

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_000089.4(COL1A2):c.2539G>A (p.Gly847Ser)

SNV
Germline

Chr7:94423092

Pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Single Submitter

CA368224122

rs_72658196

1 SubmittersRCV003084870

NM_021939.4(FKBP10):c.918-3C>A

SNV
Germline

Chr17:41819527

Pathogenic/Likely pathogenic

Condition: not provided
Osteogenesis imperfecta

Criteria Provided
Multiple Submitters
No Conflicts

CA8566428

rs_368957257

2 SubmittersRCV003095681 RCV005406590

NM_000088.4(COL1A1):c.3981C>T (p.Gly1327=)

SNV
Germline

Chr17:50186341

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type I
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA291542844

rs_369742817

2 SubmittersRCV002614954 RCV003161901

NM_000088.4(COL1A1):c.3668T>A (p.Val1223Glu)

SNV
Germline

Chr17:50186786

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type I
Condition: not provided

Criteria Provided
Conflicting Classifications

CA400197302

rs_1409382717

2 SubmittersRCV002591748 RCV004765678

NM_000088.4(COL1A1):c.4154A>G (p.Lys1385Arg)

SNV
Germline

Chr17:50185872

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type I
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA8644250

rs_376024832

2 SubmittersRCV002633410 RCV005804730

NM_000088.4(COL1A1):c.2179C>T (p.Gln727Ter)

SNV
Germline

Chr17:50191439

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400211136

rs_2509197207

1 SubmittersRCV003112382

NM_000088.4(COL1A1):c.1508G>C (p.Gly503Ala)

SNV
Germline

Chr17:50194580

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400217245

rs_2509220522

1 SubmittersRCV003112385

NM_000088.4(COL1A1):c.590G>C (p.Gly197Ala)

SNV
Germline

Chr17:50198001

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400225373

rs_72667028

1 SubmittersRCV003112387

NM_000088.4(COL1A1):c.158G>A (p.Trp53Ter)

SNV
Germline

Chr17:50199893

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400228548

rs_2509259293

1 SubmittersRCV003112388

NM_000089.4(COL1A2):c.1676G>A (p.Gly559Asp)

SNV
Germline

Chr7:94414232

Pathogenic

Osteogenesis imperfecta

Criteria Provided
Single Submitter

CA368222358

rs_2484716722

1 SubmittersRCV002512499

NM_000089.4(COL1A2):c.614G>C (p.Gly205Ala)

SNV
Germline

Chr7:94407866

Likely pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Single Submitter

CA368220160

rs_1443518475

1 SubmittersRCV002574771

NM_000089.4(COL1A2):c.839G>C (p.Gly280Ala)

SNV
Germline

Chr7:94409368

Pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Single Submitter

CA368220626

rs_2484707689

1 SubmittersRCV002570268

NM_000089.4(COL1A2):c.2882G>A (p.Gly961Asp)

SNV
Germline

Chr7:94425796

Pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Single Submitter

CA368224815

rs_140194114

1 SubmittersRCV002617099

NM_006371.5(CRTAP):c.445A>T (p.Lys149Ter)

SNV
Germline

Chr3:33114522

Pathogenic

Osteogenesis imperfecta type 7

Criteria Provided
Single Submitter

CA352008864

rs_1701320767

1 SubmittersRCV002626063

NM_002615.7(SERPINF1):c.553C>T (p.Gln185Ter)

SNV
Germline

Chr17:1771985

Pathogenic

Condition: not provided
Osteogenesis imperfecta type 6

Criteria Provided
Multiple Submitters
No Conflicts

CA397586425

rs_1341566934

2 SubmittersRCV002726112 RCV005019345

NM_000088.4(COL1A1):c.4039G>A (p.Asp1347Asn)

SNV
Germline

Chr17:50185987

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type I
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8644264

rs_191166865

2 SubmittersRCV002740933 RCV003738284

NM_000088.4(COL1A1):c.1375C>T (p.Pro459Ser)

SNV
Germline

Chr17:50194807

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type I
not specified

Criteria Provided
Conflicting Classifications

CA8645266

rs_751299130

2 SubmittersRCV002766055 RCV006460242

NM_000088.4(COL1A1):c.3677A>G (p.Asp1226Gly)

SNV
Germline

Chr17:50186777

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type I
Condition: not provided

Criteria Provided
Conflicting Classifications

CA400197195

rs_1319157667

2 SubmittersRCV002751566 RCV003156392

NM_000088.4(COL1A1):c.562G>T (p.Gly188Cys)

SNV
Unknown

Chr17:50198187

Likely pathogenic

Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1

Criteria Provided
Single Submitter

CA400225662

rs_2509248182

1 SubmittersRCV002776568

NM_000089.4(COL1A2):c.586G>C (p.Gly196Arg)

SNV
Germline

Chr7:94406295

Pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Single Submitter

CA368220096

rs_1057517953

1 SubmittersRCV002801427

NM_000089.4(COL1A2):c.974G>T (p.Gly325Val)

SNV
Germline

Chr7:94409760

Pathogenic

Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA368220902

rs_72656395

1 SubmittersRCV002819082

NM_000088.4(COL1A1):c.2028+2T>A

SNV
Germline

Chr17:50191978

Pathogenic

Osteogenesis imperfecta type I
COL1A1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA400212166

rs_72651635

3 SubmittersRCV002801974 RCV004548371

NM_000088.4(COL1A1):c.806G>A (p.Gly269Asp)

SNV
Germline

Chr17:50196669

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400222709

rs_72645329

1 SubmittersRCV002806911

NM_000089.4(COL1A2):c.1846G>A (p.Gly616Arg)

SNV
Germline

Chr7:94416486

Pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Single Submitter

CA368222714

rs_2484719924

1 SubmittersRCV002816113

NM_000089.4(COL1A2):c.1153G>C (p.Gly385Arg)

SNV
Germline

Chr7:94410483

Pathogenic

Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA368221264

rs_1584319922

1 SubmittersRCV002842191

NM_000089.4(COL1A2):c.280G>A (p.Gly94Ser)

SNV
Germline

Chr7:94404556

Likely pathogenic

Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA368219421

rs_2484699591

1 SubmittersRCV002842322

NM_000088.4(COL1A1):c.2570G>A (p.Gly857Asp)

SNV
Germline

Chr17:50189902

Likely pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400207357

rs_2509187318

1 SubmittersRCV002843653

NM_000088.4(COL1A1):c.1978G>T (p.Glu660Ter)

SNV
Germline

Chr17:50192480

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400213077

rs_2509205495

1 SubmittersRCV002834647

NM_000088.4(COL1A1):c.769G>T (p.Gly257Ter)

SNV
Germline

Chr17:50197045

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400223885

rs_72645321

1 SubmittersRCV002851495

NM_000089.4(COL1A2):c.1099G>A (p.Gly367Arg)

SNV
Germline

Chr7:94410429

Pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
Ehlers-Danlos syndrome, arthrochalasia type, 2

Criteria Provided
Multiple Submitters
No Conflicts

CA368221154

rs_72656402

2 SubmittersRCV002852812 RCV003989790

NM_000088.4(COL1A1):c.4006-2A>G

SNV
Germline

Chr17:50186022

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400192900

rs_2509157723

1 SubmittersRCV002866780

NM_000088.4(COL1A1):c.1517G>A (p.Gly506Asp)

SNV
Germline

Chr17:50194446

Likely pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400217017

rs_2509219436

1 SubmittersRCV002863357

NM_000088.4(COL1A1):c.2974G>A (p.Gly992Ser)

SNV
Germline

Chr17:50188974

Likely pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400204108

rs_1906821006

1 SubmittersRCV002866798

NM_000089.4(COL1A2):c.712G>A (p.Gly238Arg)

SNV
Germline

Chr7:94408354

Likely pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Single Submitter

CA368220370

rs_2484705943

1 SubmittersRCV002889570

NM_000088.4(COL1A1):c.2482G>T (p.Glu828Ter)

SNV
Germline

Chr17:50190078

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400207831

rs_199510546

1 SubmittersRCV002866895

NM_000088.4(COL1A1):c.880G>T (p.Glu294Ter)

SNV
Germline

Chr17:50196507

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400222142

rs_369612664

1 SubmittersRCV002881701

NM_000088.4(COL1A1):c.333+1G>C

SNV
Germline

Chr17:50199555

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400227771

rs_2144592402

1 SubmittersRCV002847588

NM_000088.4(COL1A1):c.2938-1G>C

SNV
Germline

Chr17:50189011

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400204452

rs_2509180826

1 SubmittersRCV002853476

NM_000089.4(COL1A2):c.3583T>A (p.Cys1195Ser)

SNV
Germline

Chr7:94428349

Pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Single Submitter

CA368226294

rs_2115962248

1 SubmittersRCV002852220

NM_000089.4(COL1A2):c.929G>T (p.Gly310Val)

SNV
Germline

Chr7:94409601

Pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Single Submitter

CA368220806

rs_2484708037

1 SubmittersRCV002857971

NM_000089.4(COL1A2):c.2107G>T (p.Gly703Cys)

SNV
Germline

Chr7:94420260

Likely pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Single Submitter

CA368223257

rs_1562905085

1 SubmittersRCV002853015

NM_000088.4(COL1A1):c.2020G>T (p.Gly674Ter)

SNV
Germline

Chr17:50191988

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400212246

rs_1248406777

1 SubmittersRCV002876664

NM_000088.4(COL1A1):c.4103A>G (p.Tyr1368Cys)

SNV
Germline

Chr17:50185923

Likely pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400192256

rs_2509156659

1 SubmittersRCV002899050

NM_000089.4(COL1A2):c.1981G>C (p.Gly661Arg)

SNV
Germline

Chr7:94418508

Pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta with normal sclerae, dominant form

Criteria Provided
Multiple Submitters
No Conflicts

CA368223003

rs_72658152

2 SubmittersRCV002894768 RCV005627124

NM_000088.4(COL1A1):c.1461+1G>T

SNV
Germline

Chr17:50194720

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400217592

rs_72648347

1 SubmittersRCV002891195

NM_000089.4(COL1A2):c.2008G>A (p.Gly670Ser)

SNV
Germline

Chr7:94418535

Likely pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Single Submitter

CA368223057

rs_2484722826

1 SubmittersRCV002867714

NM_000089.4(COL1A2):c.3287G>A (p.Gly1096Asp)

SNV
Germline

Chr7:94427646

Pathogenic

Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA368225656

rs_72659337

1 SubmittersRCV002885938

NM_000088.4(COL1A1):c.3809A>C (p.Lys1270Thr)

SNV
Germline

Chr17:50186645

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type I
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA8644348

rs_572950705

2 SubmittersRCV002900265 RCV004990906

NM_000089.4(COL1A2):c.856G>T (p.Gly286Cys)

SNV
Germline

Chr7:94409385

Pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Single Submitter

CA368220657

rs_1114167418

1 SubmittersRCV002889970

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_000089.4(COL1A2):c.434G>A (p.Gly145Asp)

SNV
Germline

Chr7:94405200

Pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Single Submitter

CA368219761

rs_2484700598

1 SubmittersRCV002872403

NM_000088.4(COL1A1):c.436C>T (p.Pro146Ser)

SNV
Germline

Chr17:50199261

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type I
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8645702

rs_756846639

2 SubmittersRCV002927536 RCV004786773

NM_000089.4(COL1A2):c.1010G>T (p.Gly337Val)

SNV
Germline

Chr7:94409796

Pathogenic

Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA368220963

rs_2115894285

1 SubmittersRCV002918351

NM_000088.4(COL1A1):c.1450C>T (p.Pro484Ser)

SNV
Germline

Chr17:50194732

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type I
Condition: not provided

Criteria Provided
Conflicting Classifications

CA291545438

rs_879355791

2 SubmittersRCV002914601 RCV003443091

NM_000088.4(COL1A1):c.3509G>A (p.Arg1170His)

SNV
Germline

Chr17:50187037

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type I

Criteria Provided
Conflicting Classifications

CA291542906

rs_993936431

2 SubmittersRCV002971301

NM_000089.4(COL1A2):c.424G>A (p.Gly142Ser)

SNV
Germline

Chr7:94404884

Likely pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Single Submitter

CA368219728

rs_2484700140

1 SubmittersRCV002949060

NM_000088.4(COL1A1):c.997C>T (p.Pro333Ser)

SNV
Germline

Chr17:50196160

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type I
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA8645453

rs_764594515

2 SubmittersRCV002949288 RCV005321289

NM_000088.4(COL1A1):c.1A>T (p.Met1Leu)

SNV
Germline

Chr17:50201513

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400230609

rs_1555575889

1 SubmittersRCV002994692

NM_000089.4(COL1A2):c.3127G>A (p.Ala1043Thr)

SNV
Germline

Chr7:94427029

Conflicting classifications of pathogenicity

Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I
Condition: not provided

Criteria Provided
Conflicting Classifications

CA368225330

rs_2484737317

2 SubmittersRCV002982412 RCV005603796

NM_000089.4(COL1A2):c.1089+1G>A

SNV
Germline

Chr7:94410296

Likely pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Single Submitter

CA368221126

rs_2484709149

1 SubmittersRCV003004959

NM_000088.4(COL1A1):c.851G>A (p.Gly284Asp)

SNV
Germline

Chr17:50196624

Likely pathogenic

Osteogenesis imperfecta type I
COL1A1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA400222444

rs_72645337

2 SubmittersRCV002995418 RCV004550335

NM_000088.4(COL1A1):c.1838A>G (p.Asp613Gly)

SNV
Germline

Chr17:50192834

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type I
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8645062

rs_557118570

2 SubmittersRCV002998655 RCV003146711

NM_000089.4(COL1A2):c.1675G>A (p.Gly559Ser)

SNV
Germline

Chr7:94414231

Pathogenic

Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA368222355

rs_2484716719

1 SubmittersRCV003010411

NM_000088.4(COL1A1):c.1444G>C (p.Gly482Arg)

SNV
Germline

Chr17:50194738

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400217650

rs_72648344

1 SubmittersRCV003010240

NM_000088.4(COL1A1):c.1822-1G>A

SNV
Germline

Chr17:50192851

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400214869

rs_2144564751

1 SubmittersRCV003021543

NM_000088.4(COL1A1):c.1148G>C (p.Gly383Ala)

SNV
Germline

Chr17:50195574

Pathogenic

Osteogenesis imperfecta type I
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA400219544

rs_2509228482

2 SubmittersRCV003022835 RCV005059116

NM_000088.4(COL1A1):c.298+2T>A

SNV
Germline

Chr17:50199751

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400227987

rs_2144593662

1 SubmittersRCV003014779

NM_000088.4(COL1A1):c.1984-2A>G

SNV
Germline

Chr17:50192026

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400212647

rs_72651632

1 SubmittersRCV003046232

NM_000088.4(COL1A1):c.886G>A (p.Gly296Arg)

SNV
Germline

Chr17:50196501

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400222096

rs_2509236663

1 SubmittersRCV003017193

NM_000089.4(COL1A2):c.3143G>A (p.Gly1048Asp)

SNV
Germline

Chr7:94427045

Pathogenic

Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA368225362

rs_2484737368

1 SubmittersRCV003027432

NM_000088.4(COL1A1):c.1400G>C (p.Gly467Ala)

SNV
Germline

Chr17:50194782

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400218362

rs_267604943

1 SubmittersRCV003055033

NM_000088.4(COL1A1):c.903+1G>T

SNV
Germline

Chr17:50196483

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400222000

rs_1298621011

1 SubmittersRCV003027965

NM_000088.4(COL1A1):c.2929G>A (p.Gly977Ser)

SNV
Germline

Chr17:50189176

Likely pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400204670

rs_2509181824

1 SubmittersRCV003039288

NM_000088.4(COL1A1):c.2451+1G>C

SNV
Germline

Chr17:50190326

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Multiple Submitters
No Conflicts

CA400207907

rs_2509190517

2 SubmittersRCV003054457

NM_000088.4(COL1A1):c.313C>T (p.Gln105Ter)

SNV
Germline

Chr17:50199576

Pathogenic/Likely pathogenic

Osteogenesis imperfecta type I
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA400227899

rs_2509256204

2 SubmittersRCV003044639 RCV003138459

NM_000089.4(COL1A2):c.3026G>C (p.Gly1009Ala)

SNV
Germline

Chr7:94426451

Likely pathogenic

Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA368225116

rs_2484736269

1 SubmittersRCV003052286

NM_000088.4(COL1A1):c.671G>C (p.Gly224Ala)

SNV
Germline

Chr17:50197757

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400224673

rs_1555574641

1 SubmittersRCV003048110

NM_000088.4(COL1A1):c.1615-1G>A

SNV
Germline

Chr17:50194184

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400216155

rs_2509217431

1 SubmittersRCV003044967

NM_006129.5(BMP1):c.2569G>A (p.Ala857Thr)

SNV
Germline

Chr8:22207510

Conflicting classifications of pathogenicity

Inborn genetic diseases
Osteogenesis imperfecta type 13

Criteria Provided
Conflicting Classifications

CA4665290

rs_535986716

2 SubmittersRCV002681988 RCV004720386

NM_052854.4(CREB3L1):c.635A>G (p.His212Arg)

SNV
Germline

Chr11:46311071

Conflicting classifications of pathogenicity

Inborn genetic diseases
Osteogenesis imperfecta type 16

Criteria Provided
Conflicting Classifications

CA5961648

rs_766438770

2 SubmittersRCV002685090 RCV003992734

NM_000088.4(COL1A1):c.4192A>G (p.Ile1398Val)

SNV
Germline

Chr17:50185834

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta type I

Criteria Provided
Conflicting Classifications

CA400191675

rs_754481870

2 SubmittersRCV003120115 RCV003517446

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

4 SubmittersRCV003123573 RCV005602019

NM_000088.4(COL1A1):c.2559+5G>T

SNV
Unknown

Chr17:50189996

Likely pathogenic

Osteogenesis imperfecta type I

No Assertion Criteria Provided

CA2580094246

rs_72653138

1 SubmittersRCV003126321

NM_000088.4(COL1A1):c.3182G>T (p.Gly1061Val)

SNV
Germline

Chr17:50188555

Likely pathogenic

Osteogenesis imperfecta

Criteria Provided
Single Submitter

CA400200721

rs_72654797

1 SubmittersRCV003128180

NM_000089.4(COL1A2):c.2295+5G>A

SNV
Germline

Chr7:94420653

Likely pathogenic

Osteogenesis imperfecta

Criteria Provided
Single Submitter

CA2580077895

rs_2115932392

1 SubmittersRCV003128181

NM_000089.4(COL1A2):c.2873G>T (p.Gly958Val)

SNV
Germline

Chr7:94425787

Likely pathogenic

Osteogenesis imperfecta

Criteria Provided
Single Submitter

CA368224800

rs_2484734805

1 SubmittersRCV003128182

NM_000089.4(COL1A2):c.1990G>C (p.Gly664Arg)

SNV
Germline

Chr7:94418517

Pathogenic

Condition: not provided
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Multiple Submitters
No Conflicts

CA368223020

rs_2484722803

2 SubmittersRCV003129375 RCV003778689

NM_000088.4(COL1A1):c.905G>A (p.Gly302Asp)

SNV
Germline

Chr17:50196366

Likely pathogenic

Osteogenesis imperfecta, perinatal lethal

Criteria Provided
Single Submitter

1 SubmittersRCV006454775

NM_000089.4(COL1A2):c.2963G>A (p.Gly988Asp)

SNV
Germline

Chr7:94426017

Likely pathogenic

Osteogenesis imperfecta, perinatal lethal

Criteria Provided
Single Submitter

1 SubmittersRCV006454788

NM_000088.4(COL1A1):c.2848G>A (p.Gly950Arg)

SNV
Germline

Chr17:50189257

Pathogenic/Likely pathogenic

Condition: not provided
Osteogenesis imperfecta, perinatal lethal

Criteria Provided
Multiple Submitters
No Conflicts

CA291543152

rs_72653160

3 SubmittersRCV003235779 RCV006454795

NM_000088.4(COL1A1):c.3011G>A (p.Gly1004Glu)

SNV
Germline

Chr17:50188937

Likely pathogenic

Osteogenesis imperfecta, perinatal lethal

Criteria Provided
Single Submitter

1 SubmittersRCV006454801

NM_000089.4(COL1A2):c.1531G>T (p.Gly511Cys)

SNV
Germline

Chr7:94413110

Likely pathogenic

Osteogenesis imperfecta, perinatal lethal

Criteria Provided
Single Submitter

CA368222048

rs_72658125

1 SubmittersRCV003140431

NM_000089.4(COL1A2):c.2710G>C (p.Gly904Arg)

SNV
Germline

Chr7:94425153

Likely pathogenic

Osteogenesis imperfecta, perinatal lethal

Criteria Provided
Single Submitter

CA162939396

rs_72659307

1 SubmittersRCV003140449

NM_000088.4(COL1A1):c.409C>T (p.Gln137Ter)

SNV
Germline

Chr17:50199288

Likely pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400227413

rs_2509253797

1 SubmittersRCV003142472

NM_000088.4(COL1A1):c.670G>A (p.Gly224Ser)

SNV
Germline

Chr17:50197758

Pathogenic

Condition: not provided
Osteogenesis imperfecta type I

Criteria Provided
Multiple Submitters
No Conflicts

CA400224680

rs_72667038

2 SubmittersRCV003136508 RCV003517449

NM_000088.4(COL1A1):c.662G>A (p.Gly221Asp)

SNV
Germline

Chr17:50197766

Pathogenic/Likely pathogenic

Condition: not provided
Osteogenesis imperfecta type I

Criteria Provided
Multiple Submitters
No Conflicts

CA400224736

rs_2509245316

2 SubmittersRCV003141617 RCV006473693

NM_000089.4(COL1A2):c.973G>C (p.Gly325Arg)

SNV
Germline

Chr7:94409759

Likely pathogenic

Condition: not provided
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Multiple Submitters
No Conflicts

CA368220899

rs_2484708287

2 SubmittersRCV003141651 RCV003778824

NM_015884.4(MBTPS2):c.527G>A (p.Gly176Glu)

SNV
Unknown

ChrX:21851597

Conflicting classifications of pathogenicity

Keratosis follicularis spinulosa decalvans, X-linked
Osteogenesis imperfecta, type 19
Olmsted syndrome, X-linked
IFAP syndrome 1, with or without BRESHECK syndrome
MBTPS2-related disorder

Criteria Provided
Conflicting Classifications

CA412562808

rs_2519561020

2 SubmittersRCV003148094 RCV003148097 RCV003148096 RCV003148095 RCV005430864

NM_000089.4(COL1A2):c.2295T>C (p.Ala765=)

SNV
Germline

Chr7:94420648

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Conflicting Classifications

CA4347371

rs_749567617

2 SubmittersRCV003165031 RCV003778940

NM_000088.4(COL1A1):c.3977T>G (p.Phe1326Cys)

SNV
Germline

Chr17:50186345

Pathogenic

Osteogenesis imperfecta, perinatal lethal

Criteria Provided
Single Submitter

CA400193142

rs_2509159786

1 SubmittersRCV003219187

NM_018112.3(TMEM38B):c.532A>T (p.Lys178Ter)

SNV
Germline

Chr9:105722611

Likely pathogenic

Osteogenesis imperfecta

Criteria Provided
Single Submitter

CA374380656

rs_1836361994

1 SubmittersRCV003226831

NM_000088.4(COL1A1):c.1004G>T (p.Gly335Val)

SNV
Germline

Chr17:50195975

Likely pathogenic

Osteogenesis imperfecta, perinatal lethal

Criteria Provided
Single Submitter

CA400221093

rs_1907549643

1 SubmittersRCV003227558

NM_000088.4(COL1A1):c.1520C>T (p.Pro507Leu)

SNV
Germline

Chr17:50194443

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta type I

Criteria Provided
Conflicting Classifications

CA8645201

rs_755601552

2 SubmittersRCV003229289 RCV003779828

NM_000089.4(COL1A2):c.812G>A (p.Gly271Asp)

SNV
Germline

Chr7:94409341

Pathogenic

Condition: not provided
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA368220578

rs_2484707621

2 SubmittersRCV003230167 RCV003779835

NM_000088.4(COL1A1):c.2821G>A (p.Gly941Ser)

SNV
Germline

Chr17:50189385

Likely pathogenic

Osteogenesis imperfecta type III

No Assertion Criteria Provided

CA400205408

rs_2509183476

1 SubmittersRCV003326701

NM_000088.4(COL1A1):c.750+1G>A

SNV
Germline

Chr17:50197179

Pathogenic

Condition: not provided
Osteogenesis imperfecta with normal sclerae, dominant form

Criteria Provided
Multiple Submitters
No Conflicts

CA400224078

rs_2509241842

2 SubmittersRCV003233157 RCV005439117

NM_000088.4(COL1A1):c.4339G>T (p.Val1447Phe)

SNV
Germline

Chr17:50185558

Conflicting classifications of pathogenicity

Primary dilated cardiomyopathy
Condition: not provided
Osteogenesis imperfecta type I

Criteria Provided
Conflicting Classifications

CA8644178

rs_367952133

3 SubmittersRCV003319257 RCV003420624 RCV006474091

NM_000088.4(COL1A1):c.3082G>A (p.Gly1028Ser)

SNV
Germline

Chr17:50188759

Pathogenic

Condition: not provided
Osteogenesis imperfecta type I

Criteria Provided
Multiple Submitters
No Conflicts

CA291543079

rs_72653175

2 SubmittersRCV003237229 RCV003517473

NM_000088.4(COL1A1):c.2669G>C (p.Gly890Ala)

SNV
Germline

Chr17:50189537

Likely pathogenic

Osteogenesis imperfecta with normal sclerae, dominant form

Criteria Provided
Single Submitter

CA400206107

rs_867267949

1 SubmittersRCV003314265

NM_000089.4(COL1A2):c.3584G>C (p.Cys1195Ser)

SNV
Germline

Chr7:94428350

Pathogenic/Likely pathogenic

Osteogenesis imperfecta type III
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Multiple Submitters
No Conflicts

CA368226298

rs_72659342

2 SubmittersRCV003314445 RCV003777283

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

4 SubmittersRCV003314873 RCV003322940

NM_000088.4(COL1A1):c.2858G>T (p.Gly953Val)

SNV
Germline

Chr17:50189247

Likely pathogenic

Osteogenesis imperfecta type III

Criteria Provided
Single Submitter

CA400205101

rs_2509182456

1 SubmittersRCV003315186

NM_000088.4(COL1A1):c.3814+1G>A

SNV
Unknown

Chr17:50186639

Likely pathogenic

Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1

Criteria Provided
Single Submitter

CA400195845

rs_2144535840

1 SubmittersRCV003322732

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_000089.4(COL1A2):c.3277G>T (p.Gly1093Cys)

SNV
Germline

Chr7:94427636

Pathogenic/Likely pathogenic

Osteogenesis imperfecta type III
COL1A2-related disorder
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Multiple Submitters
No Conflicts

CA368225639

rs_2115959456

3 SubmittersRCV003324616 RCV003410347 RCV005227988

NM_000089.4(COL1A2):c.2297G>A (p.Gly766Asp)

SNV
Germline

Chr7:94421010

Pathogenic/Likely pathogenic

Osteogenesis imperfecta
Osteogenesis imperfecta type III

Criteria Provided
Multiple Submitters
No Conflicts

CA368223655

rs_72658183

2 SubmittersRCV003327332 RCV005627129

NM_000088.4(COL1A1):c.1426G>A (p.Gly476Arg)

SNV
Germline

Chr17:50194756

Pathogenic

Osteogenesis imperfecta
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA291545460

rs_57377812

2 SubmittersRCV003327333 RCV004701037

NM_000089.4(COL1A2):c.2233G>A (p.Gly745Arg)

SNV
Germline

Chr7:94420586

Pathogenic

Condition: not provided
COL1A2-related disorder
Osteogenesis imperfecta type I

Criteria Provided
Multiple Submitters
No Conflicts

CA368223522

rs_2484725715

3 SubmittersRCV003328072 RCV003901014 RCV005363096

NM_000088.4(COL1A1):c.760G>T (p.Gly254Ter)

SNV
Germline

Chr17:50197054

Pathogenic

Osteogenesis imperfecta

Criteria Provided
Single Submitter

CA400223944

rs_72645319

1 SubmittersRCV003331999

NM_000089.4(COL1A2):c.1504-2A>G

SNV
Unknown

Chr7:94413081

Likely pathogenic

Osteogenesis imperfecta with normal sclerae, dominant form

Criteria Provided
Single Submitter

CA368221984

rs_2484714499

1 SubmittersRCV003333563

NM_000088.4(COL1A1):c.370-2A>T

SNV
Unknown

Chr17:50199329

Likely pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400227572

rs_193922155

1 SubmittersRCV003333666

NM_000088.4(COL1A1):c.3001G>A (p.Gly1001Ser)

SNV
Germline

Chr17:50188947

Likely pathogenic

Osteogenesis imperfecta with normal sclerae, dominant form

Criteria Provided
Multiple Submitters
No Conflicts

CA400203901

rs_72653167

2 SubmittersRCV003384288

NM_000088.4(COL1A1):c.2192G>A (p.Gly731Asp)

SNV
Germline

Chr17:50191426

Likely pathogenic

Osteogenesis imperfecta, perinatal lethal

Criteria Provided
Single Submitter

CA400211004

rs_2509197106

1 SubmittersRCV003384289

NM_000088.4(COL1A1):c.3967C>T (p.His1323Tyr)

SNV
Germline

Chr17:50186355

Likely pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA291542848

rs_72656344

1 SubmittersRCV003384290

NM_000089.4(COL1A2):c.1927G>A (p.Gly643Arg)

SNV
Germline

Chr7:94417787

Likely pathogenic

Osteogenesis imperfecta type III

No Assertion Criteria Provided

CA368222880

rs_2484721857

1 SubmittersRCV004548625

NM_000088.4(COL1A1):c.1049G>T (p.Gly350Val)

SNV
Germline

Chr17:50195930

Likely pathogenic

Osteogenesis imperfecta type III

No Assertion Criteria Provided

CA400220984

rs_2509231370

1 SubmittersRCV004548626

NM_000089.4(COL1A2):c.1028G>A (p.Gly343Glu)

SNV
Germline

Chr7:94409814

Pathogenic

Osteogenesis imperfecta with normal sclerae, dominant form

No Assertion Criteria Provided

CA368220994

rs_2484708420

1 SubmittersRCV004548627

NM_000088.4(COL1A1):c.750+1G>T

SNV
Germline

Chr17:50197179

Pathogenic

Osteogenesis imperfecta type III

No Assertion Criteria Provided

CA400224076

rs_2509241842

1 SubmittersRCV004548628

NM_000088.4(COL1A1):c.2830-2A>C

SNV
Germline

Chr17:50189277

Pathogenic

Osteogenesis imperfecta, perinatal lethal

No Assertion Criteria Provided

CA400205282

rs_2509182695

1 SubmittersRCV004548629

NM_000089.4(COL1A2):c.335G>T (p.Gly112Val)

SNV
Germline

Chr7:94404703

Pathogenic

Condition: not provided
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA368219543

rs_1791759246

2 SubmittersRCV003441257 RCV005220714

NM_000088.4(COL1A1):c.1516-5A>G

SNV
Germline

Chr17:50194452

Conflicting classifications of pathogenicity

Osteoporosis
Condition: not provided
Osteogenesis imperfecta type I

Criteria Provided
Conflicting Classifications

CA2695200280

rs_2509219496

3 SubmittersRCV003447852 RCV005631164 RCV005100105

NM_000089.4(COL1A2):c.739G>A (p.Gly247Ser)

SNV
Germline

Chr7:94408770

Pathogenic/Likely pathogenic

Ehlers-Danlos syndrome
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
7 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA368220429

rs_1064794058

3 SubmittersRCV003479810 RCV005216124 RCV006605402

NM_000089.4(COL1A2):c.614G>A (p.Gly205Asp)

SNV
Germline

Chr7:94407866

Pathogenic/Likely pathogenic

Osteogenesis imperfecta, perinatal lethal
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA368220159

rs_1443518475

2 SubmittersRCV003482490 RCV006561714

NM_002615.7(SERPINF1):c.446G>A (p.Arg149His)

SNV
Germline

Chr17:1771878

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type 6
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8274713

rs_555882903

2 SubmittersRCV003486232 RCV003720940

NM_000088.4(COL1A1):c.3928A>T (p.Lys1310Ter)

SNV
Germline

Chr17:50186394

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400193430

rs_2509160384

1 SubmittersRCV003517955

NM_000088.4(COL1A1):c.1456G>T (p.Glu486Ter)

SNV
Germline

Chr17:50194726

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400217611

rs_1171968124

1 SubmittersRCV003518032

NM_000088.4(COL1A1):c.1184G>C (p.Gly395Ala)

SNV
Germline

Chr17:50195450

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400219109

rs_2509227622

1 SubmittersRCV003517564

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_000088.4(COL1A1):c.3532-1G>T

SNV
Germline

Chr17:50186923

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400198413

rs_2509165688

1 SubmittersRCV003517927

NM_000088.4(COL1A1):c.73G>T (p.Glu25Ter)

SNV
Germline

Chr17:50201441

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400230229

rs_2509266699

1 SubmittersRCV003517959

NM_000088.4(COL1A1):c.200A>G (p.Lys67Arg)

SNV
Germline

Chr17:50199851

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta type I

Criteria Provided
Conflicting Classifications

CA8645810

rs_758395597

2 SubmittersRCV004723355 RCV003518038

NM_000088.4(COL1A1):c.79C>T (p.Gln27Ter)

SNV
Germline

Chr17:50201435

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400230194

rs_2509266618

1 SubmittersRCV003518309

NM_000088.4(COL1A1):c.3814G>T (p.Gly1272Ter)

SNV
Germline

Chr17:50186640

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400195852

rs_2509162830

1 SubmittersRCV003518100

NM_006371.5(CRTAP):c.923-2A>G

SNV
Germline

Chr3:33132553

Pathogenic

Osteogenesis imperfecta type 7

Criteria Provided
Single Submitter

CA72669236

rs_137853947

1 SubmittersRCV003506058

NM_000088.4(COL1A1):c.1453G>A (p.Gly485Ser)

SNV
Germline

Chr17:50194729

Likely pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400217621

rs_1420322445

1 SubmittersRCV003518266

NM_000088.4(COL1A1):c.1983+1G>C

SNV
Germline

Chr17:50192474

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400213003

rs_2509205431

1 SubmittersRCV003518316

NM_006371.5(CRTAP):c.370C>T (p.Gln124Ter)

SNV
Germline

Chr3:33114447

Pathogenic

Osteogenesis imperfecta type 7

Criteria Provided
Single Submitter

CA352008712

rs_1701318535

1 SubmittersRCV003506121

NM_000088.4(COL1A1):c.124C>T (p.Gln42Ter)

SNV
Germline

Chr17:50199927

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400228661

rs_1223061614

1 SubmittersRCV003518716

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_000088.4(COL1A1):c.1832G>A (p.Gly611Asp)

SNV
Germline

Chr17:50192840

Likely pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400214847

rs_2509208266

1 SubmittersRCV003518742

NM_005430.4(WNT1):c.505G>T (p.Gly169Cys)

SNV
Germline

Chr12:48980570

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta

Criteria Provided
Conflicting Classifications

CA6544408

rs_773630541

3 SubmittersRCV003557721 RCV004765889

NM_000088.4(COL1A1):c.545G>T (p.Gly182Val)

SNV
Germline

Chr17:50198204

Likely pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA8645663

rs_762653652

1 SubmittersRCV003516774

NM_000088.4(COL1A1):c.3807G>A (p.Trp1269Ter)

SNV
Germline

Chr17:50186647

Pathogenic

Osteogenesis imperfecta type I
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA400195971

rs_2509162962

2 SubmittersRCV003518808 RCV006454444

NM_000088.4(COL1A1):c.3369+1G>C

SNV
Germline

Chr17:50187875

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400199467

rs_1906695650

1 SubmittersRCV003518809

NM_000088.4(COL1A1):c.3208-2A>C

SNV
Germline

Chr17:50188151

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA291543022

rs_72654801

1 SubmittersRCV003518810

NM_000088.4(COL1A1):c.2938-2A>G

SNV
Germline

Chr17:50189012

Pathogenic

Osteogenesis imperfecta type I
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA400204465

rs_2509180833

2 SubmittersRCV003518811 RCV004721202

NM_000088.4(COL1A1):c.2452-2A>G

SNV
Germline

Chr17:50190110

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA291543314

rs_72651666

1 SubmittersRCV003518812

NM_000088.4(COL1A1):c.1876G>A (p.Gly626Ser)

SNV
Germline

Chr17:50192693

Pathogenic

Osteogenesis imperfecta type I
Osteogenesis imperfecta with normal sclerae, dominant form

Criteria Provided
Multiple Submitters
No Conflicts

CA291544273

rs_68181175

2 SubmittersRCV003518813 RCV005604814

NM_000088.4(COL1A1):c.1461+1G>A

SNV
Germline

Chr17:50194720

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400217590

rs_72648347

1 SubmittersRCV003518814

NM_000088.4(COL1A1):c.1353+2T>C

SNV
Germline

Chr17:50195045

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA291546492

rs_72648335

1 SubmittersRCV003518815

NM_000088.4(COL1A1):c.1228G>A (p.Gly410Ser)

SNV
Germline

Chr17:50195303

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Multiple Submitters
No Conflicts

CA291546660

rs_72648324

2 SubmittersRCV003518816

NM_000088.4(COL1A1):c.959G>T (p.Gly320Val)

SNV
Germline

Chr17:50196198

Pathogenic

Osteogenesis imperfecta type I
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA291547144

rs_72645353

2 SubmittersRCV003518817 RCV005645510

NM_000088.4(COL1A1):c.697-2A>T

SNV
Germline

Chr17:50197235

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA291547683

rs_67047253

1 SubmittersRCV003518818

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_006371.5(CRTAP):c.1005G>C (p.Leu335=)

SNV
Germline

Chr3:33132637

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type 7
Condition: not provided

Criteria Provided
Conflicting Classifications

CA432952448

rs_1170836959

2 SubmittersRCV003506724 RCV005861348

NM_000088.4(COL1A1):c.700G>T (p.Glu234Ter)

SNV
Germline

Chr17:50197230

Pathogenic

Osteogenesis imperfecta type I
Osteogenesis imperfecta, perinatal lethal

Criteria Provided
Multiple Submitters
No Conflicts

CA400224329

rs_1907674328

2 SubmittersRCV003516771 RCV005415484

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_000088.4(COL1A1):c.3046-2A>C

SNV
Germline

Chr17:50188797

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400203464

rs_72653171

1 SubmittersRCV003516927

NM_000088.4(COL1A1):c.2372G>C (p.Gly791Ala)

SNV
Germline

Chr17:50190568

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400208136

rs_2509192021

1 SubmittersRCV003516859

NM_000088.4(COL1A1):c.2407G>A (p.Gly803Ser)

SNV
Germline

Chr17:50190371

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400207994

rs_2509190985

1 SubmittersRCV003516865

NM_000088.4(COL1A1):c.1057-1G>C

SNV
Germline

Chr17:50195666

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400220328

rs_1555574177

1 SubmittersRCV003516933

NM_006371.5(CRTAP):c.997C>T (p.Gln333Ter)

SNV
Germline

Chr3:33132629

Pathogenic

Osteogenesis imperfecta type 7

Criteria Provided
Single Submitter

CA351997614

rs_2471585496

1 SubmittersRCV003504800

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_000088.4(COL1A1):c.2451+2T>C

SNV
Germline

Chr17:50190325

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400207904

rs_2509190507

1 SubmittersRCV003517655

NM_000088.4(COL1A1):c.415G>T (p.Gly139Ter)

SNV
Germline

Chr17:50199282

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400227388

rs_2509253751

1 SubmittersRCV003517832

NM_000088.4(COL1A1):c.1354-1G>C

SNV
Germline

Chr17:50194829

Likely pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400218489

rs_112101899

1 SubmittersRCV003517856

NM_000088.4(COL1A1):c.2719A>T (p.Lys907Ter)

SNV
Germline

Chr17:50189487

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400205877

rs_2509184226

1 SubmittersRCV003517826

NM_000088.4(COL1A1):c.598G>A (p.Gly200Ser)

SNV
Germline

Chr17:50197993

Pathogenic/Likely pathogenic

Osteogenesis imperfecta type I
8 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA400225327

rs_2509246983

2 SubmittersRCV003631375 RCV005030145

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_000088.4(COL1A1):c.1156-4A>G

SNV
Germline

Chr17:50195482

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type I
not specified
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA291546812

rs_954564659

4 SubmittersRCV003631661 RCV005407208 RCV006444138 RCV004992702

NM_005430.4(WNT1):c.437G>T (p.Gly146Val)

SNV
Germline

Chr12:48980502

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta type 15

Criteria Provided
Conflicting Classifications

CA384631133

rs_2498947344

2 SubmittersRCV003682056 RCV004723405

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_000088.4(COL1A1):c.3653C>T (p.Ala1218Val)

SNV
Germline

Chr17:50186801

Pathogenic/Likely pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Multiple Submitters
No Conflicts

CA400197446

rs_201398339

2 SubmittersRCV003631741

NM_006371.5(CRTAP):c.427C>T (p.Gln143Ter)

SNV
Germline

Chr3:33114504

Pathogenic

Osteogenesis imperfecta type 7

Criteria Provided
Single Submitter

CA352008828

rs_2471562112

1 SubmittersRCV003612873

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_000088.4(COL1A1):c.1057G>C (p.Gly353Arg)

SNV
Germline

Chr17:50195665

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400220322

rs_66721653

1 SubmittersRCV003631852

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_006371.5(CRTAP):c.535G>T (p.Glu179Ter)

SNV
Germline

Chr3:33120407

Pathogenic

Osteogenesis imperfecta type 7

Criteria Provided
Single Submitter

CA352009061

rs_953081958

1 SubmittersRCV003612838

NM_000088.4(COL1A1):c.334G>T (p.Gly112Ter)

SNV
Germline

Chr17:50199453

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400227732

rs_2509255422

1 SubmittersRCV003631819

NM_000088.4(COL1A1):c.2614-1G>C

SNV
Germline

Chr17:50189733

Pathogenic

Osteogenesis imperfecta type I
Ovarian serous cystadenocarcinoma

Criteria Provided
Single Submitter

CA400207146

rs_2509186079

2 SubmittersRCV003631839 RCV005934627

NM_006371.5(CRTAP):c.179G>A (p.Trp60Ter)

SNV
Germline

Chr3:33114256

Pathogenic

Osteogenesis imperfecta type 7

Criteria Provided
Single Submitter

CA352008313

rs_2471561343

1 SubmittersRCV003612910

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_000088.4(COL1A1):c.1372G>T (p.Gly458Ter)

SNV
Germline

Chr17:50194810

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400218448

rs_2509222638

1 SubmittersRCV003631928

NM_000088.4(COL1A1):c.543G>T (p.Met181Ile)

SNV
Germline

Chr17:50198433

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400225935

rs_72667022

1 SubmittersRCV003631900

NM_000088.4(COL1A1):c.925G>T (p.Glu309Ter)

SNV
Germline

Chr17:50196346

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400221763

rs_2509235451

1 SubmittersRCV003631957

NM_000088.4(COL1A1):c.2398-1G>T

SNV
Germline

Chr17:50190381

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA8644818

rs_193922147

1 SubmittersRCV003631913

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_000088.4(COL1A1):c.3369+2T>C

SNV
Germline

Chr17:50187874

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400199463

rs_112838331

1 SubmittersRCV003632045

NM_000088.4(COL1A1):c.1546C>T (p.Pro516Ser)

SNV
Germline

Chr17:50194417

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type I
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA8645197

rs_750695521

3 SubmittersRCV003632067 RCV006264106 RCV006347782

NM_000088.4(COL1A1):c.159G>A (p.Trp53Ter)

SNV
Germline

Chr17:50199892

Pathogenic/Likely pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, arthrochalasia type

Criteria Provided
Multiple Submitters
No Conflicts

CA400228546

rs_2509259283

2 SubmittersRCV003632078 RCV004763745

NM_000088.4(COL1A1):c.4135C>T (p.Gln1379Ter)

SNV
Germline

Chr17:50185891

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400191991

rs_3205509

1 SubmittersRCV003632097

NM_000088.4(COL1A1):c.544G>T (p.Gly182Cys)

SNV
Germline

Chr17:50198205

Likely pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Multiple Submitters
No Conflicts

CA400225772

rs_1439626978

2 SubmittersRCV003632017

NM_000088.4(COL1A1):c.976G>A (p.Gly326Ser)

SNV
Germline

Chr17:50196181

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA291547134

rs_72645355

1 SubmittersRCV003632064

NM_006371.5(CRTAP):c.409G>T (p.Glu137Ter)

SNV
Germline

Chr3:33114486

Pathogenic

Osteogenesis imperfecta type 7

Criteria Provided
Single Submitter

CA352008791

rs_747496610

1 SubmittersRCV003613423

NM_000088.4(COL1A1):c.2176C>A (p.Leu726Ile)

SNV
Germline

Chr17:50191442

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type I
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8644910

rs_757175933

2 SubmittersRCV003632148 RCV004765946

NM_000088.4(COL1A1):c.1360G>A (p.Val454Ile)

SNV
Germline

Chr17:50194822

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type I
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA8645270

rs_777589249

2 SubmittersRCV003632118 RCV005323527

NM_006371.5(CRTAP):c.57C>A (p.Cys19Ter)

SNV
Germline

Chr3:33114134

Pathogenic

Osteogenesis imperfecta type 7

Criteria Provided
Single Submitter

CA352008070

rs_2471560885

1 SubmittersRCV003613386

NM_000088.4(COL1A1):c.1229G>C (p.Gly410Ala)

SNV
Germline

Chr17:50195302

Likely pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400218869

rs_2509226176

1 SubmittersRCV003632211

NM_000088.4(COL1A1):c.1002+3G>C

SNV
Germline

Chr17:50196152

Pathogenic

Osteogenesis imperfecta type I
Ovarian serous cystadenocarcinoma

Criteria Provided
Single Submitter

CA2739268233

rs_2144579715

2 SubmittersRCV003632248 RCV005934694

NM_000088.4(COL1A1):c.544-2A>G

SNV
Germline

Chr17:50198207

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400225795

rs_2509248369

1 SubmittersRCV003632199

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

SNV
Germline

Chr1:42752373

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type 8

Criteria Provided
Conflicting Classifications

CA801820

rs_746650866

2 SubmittersRCV003600209

NM_000088.4(COL1A1):c.1310G>C (p.Gly437Ala)

SNV
Germline

Chr17:50195090

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400218592

rs_2509224349

1 SubmittersRCV003632439

NM_006129.5(BMP1):c.2424C>T (p.Phe808=)

SNV
Germline

Chr8:22207365

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta type 13

Criteria Provided
Conflicting Classifications

CA4665239

rs_761259265

2 SubmittersRCV003717349 RCV005047801

NM_000088.4(COL1A1):c.2842A>G (p.Thr948Ala)

SNV
Germline

Chr17:50189263

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type I
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8644652

rs_371705356

3 SubmittersRCV003632432 RCV004790593

NM_000088.4(COL1A1):c.2236-3T>C

SNV
Germline

Chr17:50190927

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type I
not specified

Criteria Provided
Conflicting Classifications

CA8644885

rs_757714964

2 SubmittersRCV003632659 RCV005240888

NM_000088.4(COL1A1):c.3825G>T (p.Trp1275Cys)

SNV
Germline

Chr17:50186497

Likely pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400193984

rs_1555571766

1 SubmittersRCV003632741

NM_000088.4(COL1A1):c.3815-1G>A

SNV
Germline

Chr17:50186508

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400194043

rs_2509161707

1 SubmittersRCV003632742

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_000088.4(COL1A1):c.4018G>T (p.Gly1340Cys)

SNV
Germline

Chr17:50186008

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type I
Condition: not provided

Criteria Provided
Conflicting Classifications

CA400192813

rs_147936946

2 SubmittersRCV003632757 RCV005230558

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

SNV
Germline

Chr1:42758984

Likely pathogenic

Osteogenesis imperfecta type 8

Criteria Provided
Multiple Submitters
No Conflicts

CA339959620

rs_758415465

2 SubmittersRCV003601119

NM_006371.5(CRTAP):c.2T>C (p.Met1Thr)

SNV
Germline

Chr3:33114079

Pathogenic

Osteogenesis imperfecta type 7

Criteria Provided
Single Submitter

CA352007973

rs_2471560599

1 SubmittersRCV003612380

NM_000088.4(COL1A1):c.2729G>A (p.Arg910His)

SNV
Germline

Chr17:50189477

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type I
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16040315

rs_1014402681

3 SubmittersRCV003632947 RCV005052067

NM_000089.4(COL1A2):c.1432G>T (p.Gly478Cys)

SNV
Germline

Chr7:94412611

Likely pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Single Submitter

CA368221844

rs_2484713609

1 SubmittersRCV003785493

NM_000089.4(COL1A2):c.488G>T (p.Gly163Val)

SNV
Germline

Chr7:94405674

Likely pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Single Submitter

CA368219886

rs_2484701452

1 SubmittersRCV003782167

NM_000089.4(COL1A2):c.542G>A (p.Gly181Glu)

SNV
Germline

Chr7:94406251

Pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Single Submitter

CA368220006

rs_2484702701

1 SubmittersRCV003782828

NM_000089.4(COL1A2):c.2295+1G>A

SNV
Germline

Chr7:94420649

Pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA368223643

rs_72658180

2 SubmittersRCV003783314 RCV005631233

NM_000089.4(COL1A2):c.478G>A (p.Gly160Arg)

SNV
Germline

Chr7:94405244

Pathogenic/Likely pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA368219849

rs_2484700675

2 SubmittersRCV003781055 RCV004719392

NM_000089.4(COL1A2):c.569G>T (p.Gly190Val)

SNV
Germline

Chr7:94406278

Pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Single Submitter

CA162915859

rs_72656369

1 SubmittersRCV003781056

NM_000089.4(COL1A2):c.587G>A (p.Gly196Asp)

SNV
Germline

Chr7:94406296

Pathogenic/Likely pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA368220097

rs_2484702812

4 SubmittersRCV003781057 RCV004787014 RCV005323577 RCV005631234

NM_000089.4(COL1A2):c.693+1G>A

SNV
Germline

Chr7:94408237

Pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Single Submitter

CA162918043

rs_72656381

1 SubmittersRCV003781058

NM_000089.4(COL1A2):c.739G>C (p.Gly247Arg)

SNV
Germline

Chr7:94408770

Pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Single Submitter

CA368220430

rs_1064794058

1 SubmittersRCV003781059

NM_000089.4(COL1A2):c.937G>T (p.Gly313Cys)

SNV
Germline

Chr7:94409723

Pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Single Submitter

CA368220832

rs_2484708228

1 SubmittersRCV003781060

NM_000089.4(COL1A2):c.1154G>A (p.Gly385Glu)

SNV
Germline

Chr7:94410484

Pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Single Submitter

CA162921134

rs_72658105

1 SubmittersRCV003781061

NM_000089.4(COL1A2):c.1279G>A (p.Gly427Ser)

SNV
Germline

Chr7:94411083

Pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta with normal sclerae, dominant form

Criteria Provided
Multiple Submitters
No Conflicts

CA162921999

rs_72658113

2 SubmittersRCV003781063 RCV005627130

NM_000089.4(COL1A2):c.1630G>A (p.Gly544Ser)

SNV
Germline

Chr7:94413912

Pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Single Submitter

CA162926836

rs_72658134

1 SubmittersRCV003781064

NM_000089.4(COL1A2):c.1846G>C (p.Gly616Arg)

SNV
Germline

Chr7:94416486

Pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Single Submitter

CA368222715

rs_2484719924

1 SubmittersRCV003781065

NM_000089.4(COL1A2):c.1863G>A (p.Lys621=)

SNV
Germline

Chr7:94416503

Pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Single Submitter

CA456489105

rs_2115917320

1 SubmittersRCV003781066

NM_000089.4(COL1A2):c.2359G>T (p.Gly787Cys)

SNV
Germline

Chr7:94421908

Pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type III

Criteria Provided
Multiple Submitters
No Conflicts

CA162937206

rs_72658187

2 SubmittersRCV003781067 RCV005627131

NM_000089.4(COL1A2):c.3305G>A (p.Gly1102Asp)

SNV
Germline

Chr7:94427664

Pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA4347734

rs_68063264

3 SubmittersRCV003781069 RCV005627132 RCV005631235

NM_000089.4(COL1A2):c.432+1G>C

SNV
Germline

Chr7:94404893

Pathogenic

Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA368219748

rs_1554395431

2 SubmittersRCV003779487 RCV005871305

NM_000089.4(COL1A2):c.2711G>T (p.Gly904Val)

SNV
Germline

Chr7:94425154

Pathogenic

Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA368224461

rs_775246283

1 SubmittersRCV003782595

NM_000089.4(COL1A2):c.2869G>A (p.Val957Ile)

SNV
Germline

Chr7:94425783

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA4347587

rs_150867327

2 SubmittersRCV003780341 RCV004366506

NM_000089.4(COL1A2):c.704G>A (p.Gly235Asp)

SNV
Germline

Chr7:94408346

Likely pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA368220350

rs_1791847482

2 SubmittersRCV003787806 RCV005429456

NM_000089.4(COL1A2):c.1405G>A (p.Gly469Ser)

SNV
Germline

Chr7:94412584

Likely pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Single Submitter

CA368221795

rs_2484713570

1 SubmittersRCV003787875

NM_000089.4(COL1A2):c.2711G>C (p.Gly904Ala)

SNV
Germline

Chr7:94425154

Likely pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA4347540

rs_775246283

2 SubmittersRCV003788021 RCV005003708

NM_000089.4(COL1A2):c.2558G>C (p.Gly853Ala)

SNV
Germline

Chr7:94423111

Likely pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Single Submitter

CA368224159

rs_72658197

1 SubmittersRCV003793988

NM_000089.4(COL1A2):c.308G>A (p.Gly103Asp)

SNV
Germline

Chr7:94404584

Likely pathogenic

Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA368219476

rs_1791755938

1 SubmittersRCV003806104

NM_000089.4(COL1A2):c.991G>A (p.Gly331Ser)

SNV
Germline

Chr7:94409777

Pathogenic/Likely pathogenic

Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I
Osteogenesis imperfecta with normal sclerae, dominant form

Criteria Provided
Multiple Submitters
No Conflicts

CA368220929

rs_2484708328

2 SubmittersRCV003806684 RCV005627134

NM_000089.4(COL1A2):c.2837G>C (p.Gly946Ala)

SNV
Germline

Chr7:94425751

Likely pathogenic

Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA368224731

rs_1792259695

1 SubmittersRCV003805621

NM_000089.4(COL1A2):c.2179G>C (p.Gly727Arg)

SNV
Germline

Chr7:94420436

Likely pathogenic

Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA368223406

rs_2484725490

1 SubmittersRCV003805746

NM_000089.4(COL1A2):c.2729G>A (p.Gly910Asp)

SNV
Germline

Chr7:94425172

Likely pathogenic

Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA368224493

rs_2484733399

1 SubmittersRCV003805924

NM_000089.4(COL1A2):c.3233G>T (p.Gly1078Val)

SNV
Germline

Chr7:94427261

Likely pathogenic

Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA368225546

rs_72659332

1 SubmittersRCV003806003

NM_000089.4(COL1A2):c.659G>A (p.Gly220Asp)

SNV
Germline

Chr7:94408202

Pathogenic/Likely pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Multiple Submitters
No Conflicts

CA368220259

rs_779887555

2 SubmittersRCV003790711 RCV005627133

NM_000089.4(COL1A2):c.2962G>T (p.Gly988Cys)

SNV
Germline

Chr7:94426016

Likely pathogenic

Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA368224981

rs_2484735314

1 SubmittersRCV003801048

NM_000089.4(COL1A2):c.1883G>A (p.Gly628Asp)

SNV
Germline

Chr7:94417743

Pathogenic

Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA368222798

rs_2484721766

1 SubmittersRCV003803655

NM_000089.4(COL1A2):c.2026-2A>G

SNV
Germline

Chr7:94419496

Pathogenic/Likely pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA162932294

rs_111662392

2 SubmittersRCV003795040 RCV006251377

NM_000089.4(COL1A2):c.685G>A (p.Gly229Ser)

SNV
Germline

Chr7:94408228

Likely pathogenic

Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA368220306

rs_2484705722

1 SubmittersRCV003802706

NM_000089.4(COL1A2):c.1036-1G>T

SNV
Germline

Chr7:94410241

Pathogenic

Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA368221017

rs_72656400

1 SubmittersRCV003800404

NM_000089.4(COL1A2):c.1775G>A (p.Gly592Asp)

SNV
Germline

Chr7:94416415

Likely pathogenic

Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA368222579

rs_2484719766

1 SubmittersRCV003800789

NM_000089.4(COL1A2):c.3268G>A (p.Gly1090Ser)

SNV
Germline

Chr7:94427627

Likely pathogenic

Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA368225624

rs_72659336

1 SubmittersRCV003808735

NM_000089.4(COL1A2):c.3951C>A (p.Cys1317Ter)

SNV
Germline

Chr7:94429427

Likely pathogenic

Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA368227108

rs_747369521

1 SubmittersRCV003808737

NM_000089.4(COL1A2):c.325G>C (p.Gly109Arg)

SNV
Germline

Chr7:94404693

Likely pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Single Submitter

CA368219520

rs_2484699831

1 SubmittersRCV003810104

NM_000089.4(COL1A2):c.1505G>A (p.Gly502Asp)

SNV
Germline

Chr7:94413084

Likely pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Single Submitter

CA368221990

rs_2484714503

1 SubmittersRCV003802347

NM_000089.4(COL1A2):c.486+1G>A

SNV
Germline

Chr7:94405253

Pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Single Submitter

CA368219869

rs_2484700681

1 SubmittersRCV003809736

NM_000089.4(COL1A2):c.694-1G>C

SNV
Germline

Chr7:94408335

Pathogenic

Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA368220332

rs_2484705896

1 SubmittersRCV003807504

NM_000089.4(COL1A2):c.893G>T (p.Gly298Val)

SNV
Germline

Chr7:94409565

Pathogenic

Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA368220731

rs_2484707979

1 SubmittersRCV003807585

NM_000089.4(COL1A2):c.2305G>A (p.Gly769Ser)

SNV
Germline

Chr7:94421018

Pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Single Submitter

CA368223671

rs_1792147522

1 SubmittersRCV003812311

NM_000089.4(COL1A2):c.2053G>T (p.Gly685Cys)

SNV
Germline

Chr7:94419525

Likely pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Single Submitter

CA368223148

rs_2484724027

1 SubmittersRCV003810387

NM_003118.4(SPARC):c.57T>C (p.Pro19=)

SNV
Germline

Chr5:151676132

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta type 17

Criteria Provided
Conflicting Classifications

CA129967732

rs_369337074

2 SubmittersRCV003816952 RCV003988153

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_006371.5(CRTAP):c.1020C>G (p.Tyr340Ter)

SNV
Germline

Chr3:33132652

Pathogenic/Likely pathogenic

Osteogenesis imperfecta type 7

Criteria Provided
Multiple Submitters
No Conflicts

CA2300468

rs_768954904

2 SubmittersRCV003840008

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_006129.5(BMP1):c.549C>A (p.Cys183Ter)

SNV
Germline

Chr8:22176648

Pathogenic/Likely pathogenic

Condition: not provided
Osteogenesis imperfecta type 13

Criteria Provided
Multiple Submitters
No Conflicts

CA370541742

rs_770454056

2 SubmittersRCV003868156 RCV005040581

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_006371.5(CRTAP):c.436G>T (p.Glu146Ter)

SNV
Germline

Chr3:33114513

Pathogenic

Osteogenesis imperfecta type 7

Criteria Provided
Single Submitter

CA352008843

rs_2471562154

1 SubmittersRCV003869932

NM_000089.4(COL1A2):c.2900G>T (p.Gly967Val)

SNV
Germline

Chr7:94425814

Likely pathogenic

COL1A2-related disorder
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA368224852

rs_2484734879

2 SubmittersRCV003894500 RCV005220791

NM_000088.4(COL1A1):c.4342G>C (p.Gly1448Arg)

SNV
Germline

Chr17:50185555

Likely pathogenic

Osteogenesis imperfecta with normal sclerae, dominant form
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA400190214

rs_2509152842

2 SubmittersRCV003985011 RCV005637099

NM_000088.4(COL1A1):c.4201G>T (p.Glu1401Ter)

SNV
Germline

Chr17:50185825

Likely pathogenic

Osteogenesis imperfecta with normal sclerae, dominant form
Osteogenesis imperfecta, perinatal lethal
Osteogenesis imperfecta type III
Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

CA400191614

rs_760860681

1 SubmittersRCV003985991

NM_002615.7(SERPINF1):c.4C>T (p.Gln2Ter)

SNV
Germline

Chr17:1766914

Likely pathogenic

Osteogenesis imperfecta type 6

Criteria Provided
Single Submitter

CA397582274

rs_2543470300

1 SubmittersRCV003988691

NM_000089.4(COL1A2):c.299G>A (p.Gly100Asp)

SNV
Germline

Chr7:94404575

Likely pathogenic

Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2

Criteria Provided
Single Submitter

CA368219460

rs_1584315950

1 SubmittersRCV003988694

NM_003118.4(SPARC):c.57+1G>C

SNV
Germline

Chr5:151676131

Pathogenic

Osteogenesis imperfecta type 17

Criteria Provided
Single Submitter

CA129967729

rs_112382148

1 SubmittersRCV003988721

NM_000088.4(COL1A1):c.1760G>C (p.Gly587Ala)

SNV
Germline

Chr17:50193950

Pathogenic/Likely pathogenic

Osteogenesis imperfecta type I
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA291545001

rs_72648368

2 SubmittersRCV003993584 RCV004701900

NM_002615.7(SERPINF1):c.532C>T (p.Gln178Ter)

SNV
Germline

Chr17:1771964

Pathogenic

Osteogenesis imperfecta type 6

Criteria Provided
Multiple Submitters
No Conflicts

CA397586268

rs_2543482778

2 SubmittersRCV004006227

NM_000088.4(COL1A1):c.2876G>T (p.Gly959Val)

SNV
Germline

Chr17:50189229

Likely pathogenic

Osteogenesis imperfecta, perinatal lethal

Criteria Provided
Single Submitter

CA400204976

rs_2509182346

1 SubmittersRCV004515774

NM_000089.4(COL1A2):c.4083C>T (p.Gly1361=)

SNV
Germline

Chr7:94430375

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4347918

rs_751795987

3 SubmittersRCV004520440 RCV005216246 RCV005235756

NM_000089.4(COL1A2):c.2783G>T (p.Gly928Val)

SNV
Germline

Chr7:94425611

Likely pathogenic

Osteogenesis imperfecta with normal sclerae, dominant form

Criteria Provided
Single Submitter

CA368224609

rs_2484734377

1 SubmittersRCV004555522

NM_000089.4(COL1A2):c.3256C>T (p.Gln1086Ter)

SNV
Germline

Chr7:94427284

Pathogenic

Osteogenesis imperfecta with normal sclerae, dominant form

No Assertion Criteria Provided

CA368225590

rs_2484737810

1 SubmittersRCV004556171

NM_000089.4(COL1A2):c.2404G>A (p.Gly802Ser)

SNV
Germline

Chr7:94422957

Likely pathogenic

Osteogenesis imperfecta type III

Criteria Provided
Single Submitter

rs_2484729335

1 SubmittersRCV004577286

NM_000088.4(COL1A1):c.2829+2T>A

SNV
Germline

Chr17:50189375

Likely pathogenic

Osteogenesis imperfecta

Criteria Provided
Single Submitter

rs_113739104

1 SubmittersRCV004586285

NM_000089.4(COL1A2):c.928G>A (p.Gly310Ser)

SNV
Germline

Chr7:94409600

Pathogenic

Osteogenesis imperfecta, perinatal lethal
Osteogenesis imperfecta type I

Criteria Provided
Multiple Submitters
No Conflicts

rs_72656391

2 SubmittersRCV004586479 RCV005627137

NM_000088.4(COL1A1):c.299-1G>T

SNV
Germline

Chr17:50199591

Likely pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

rs_1598301619

1 SubmittersRCV004588582

NM_000088.4(COL1A1):c.761G>T (p.Gly254Val)

SNV
Germline

Chr17:50197053

Pathogenic

Condition: not provided
Osteogenesis imperfecta type III

Criteria Provided
Multiple Submitters
No Conflicts

rs_72645320

2 SubmittersRCV004592090 RCV005604815

NM_000089.4(COL1A2):c.3305G>T (p.Gly1102Val)

SNV
Germline

Chr7:94427664

Pathogenic

Condition: not provided
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_68063264

2 SubmittersRCV004593547 RCV006564992

NM_000088.4(COL1A1):c.3092G>A (p.Gly1031Asp)

SNV
Germline

Chr17:50188749

Likely pathogenic

Osteogenesis imperfecta, perinatal lethal

Criteria Provided
Single Submitter

rs_2509178555

1 SubmittersRCV004595308

NM_005430.4(WNT1):c.397G>A (p.Ala133Thr)

SNV
Germline

Chr12:48980462

Likely pathogenic

Osteogenesis imperfecta
Osteogenesis imperfecta type 15
OSTEOPOROSIS, EARLY-ONSET, SUSCEPTIBILITY TO

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004690731 RCV005006489

NM_000089.4(COL1A2):c.1451G>T (p.Gly484Val)

SNV
Germline

Chr7:94412630

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

1 SubmittersRCV006455881

NM_000089.4(COL1A2):c.1207G>T (p.Gly403Cys)

SNV
Germline

Chr7:94410898

Pathogenic/Likely pathogenic

Osteogenesis imperfecta type III
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004698390 RCV005435442

NM_000942.5(PPIB):c.26T>A (p.Met9Lys)

SNV
Germline

Chr15:64162961

Likely pathogenic

Osteogenesis imperfecta

Criteria Provided
Single Submitter

1 SubmittersRCV004700065

NM_000088.4(COL1A1):c.2032G>T (p.Glu678Ter)

SNV
Germline

Chr17:50191883

Pathogenic/Likely pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004701239

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_000089.4(COL1A2):c.650G>A (p.Gly217Glu)

SNV
Germline

Chr7:94408193

Pathogenic

COL1A2-related disorder
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Single Submitter

2 SubmittersRCV004729862 RCV006565173

NM_000088.4(COL1A1):c.3506G>T (p.Gly1169Val)

SNV
Germline

Chr17:50187040

Likely pathogenic

COL1A1-related disorder
Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

2 SubmittersRCV004728615 RCV005103670

NM_005430.4(WNT1):c.437G>A (p.Gly146Asp)

SNV
Germline

Chr12:48980502

Likely pathogenic

Osteogenesis imperfecta type 15

Criteria Provided
Single Submitter

1 SubmittersRCV004764456

NM_000088.4(COL1A1):c.1004G>C (p.Gly335Ala)

SNV
Germline

Chr17:50195975

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

1 SubmittersRCV004765093

NM_000088.4(COL1A1):c.2444G>A (p.Gly815Asp)

SNV
Germline

Chr17:50190334

Pathogenic

Osteogenesis imperfecta, perinatal lethal

Criteria Provided
Single Submitter

1 SubmittersRCV004765439

NM_000089.4(COL1A2):c.2234G>A (p.Gly745Glu)

SNV
Germline

Chr7:94420587

Likely pathogenic

Osteogenesis imperfecta type III

Criteria Provided
Single Submitter

1 SubmittersRCV004765441

NM_000089.4(COL1A2):c.2187+1G>C

SNV
Germline

Chr7:94420445

Pathogenic

Osteogenesis imperfecta, perinatal lethal

Criteria Provided
Single Submitter

1 SubmittersRCV004765444

NM_000088.4(COL1A1):c.370-2A>C

SNV
Germline

Chr17:50199329

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

1 SubmittersRCV004765451

NM_000088.4(COL1A1):c.1327G>A (p.Gly443Arg)

SNV
Germline

Chr17:50195073

Likely pathogenic

Osteogenesis imperfecta, perinatal lethal

No Assertion Criteria Provided

1 SubmittersRCV004768462

NM_000088.4(COL1A1):c.877G>C (p.Gly293Arg)

SNV
Unknown

Chr17:50196510

Pathogenic

Osteogenesis imperfecta type I

No Assertion Criteria Provided

1 SubmittersRCV004768463

NM_000089.4(COL1A2):c.2612G>C (p.Gly871Ala)

SNV
Germline

Chr7:94424382

Likely pathogenic

Osteogenesis imperfecta with normal sclerae, dominant form

No Assertion Criteria Provided

1 SubmittersRCV004768474

NM_000089.4(COL1A2):c.2179G>T (p.Gly727Cys)

SNV
Germline

Chr7:94420436

Pathogenic

Osteogenesis imperfecta with normal sclerae, dominant form
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

2 SubmittersRCV004768475 RCV005221054

NM_000089.4(COL1A2):c.242A>G (p.Tyr81Cys)

SNV
Germline

Chr7:94401583

Likely pathogenic

Osteogenesis imperfecta, perinatal lethal

No Assertion Criteria Provided

1 SubmittersRCV004768476

NM_000089.4(COL1A2):c.2025+6T>C

SNV
Germline

Chr7:94418558

Likely pathogenic

Osteogenesis imperfecta, perinatal lethal

No Assertion Criteria Provided

1 SubmittersRCV004768477

NM_000089.4(COL1A2):c.487G>A (p.Gly163Ser)

SNV
Germline

Chr7:94405673

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004776715 RCV005218301

NM_000088.4(COL1A1):c.2777G>A (p.Gly926Asp)

SNV
Germline

Chr17:50189429

Pathogenic

Osteogenesis imperfecta, perinatal lethal

Criteria Provided
Single Submitter

1 SubmittersRCV004789848

NM_000089.4(COL1A2):c.3277G>A (p.Gly1093Ser)

SNV
Germline

Chr7:94427636

Pathogenic

Osteogenesis imperfecta with normal sclerae, dominant form

Criteria Provided
Single Submitter

1 SubmittersRCV004789973

NM_000089.4(COL1A2):c.3133G>A (p.Gly1045Ser)

SNV
Germline

Chr7:94427035

Likely pathogenic

Osteogenesis imperfecta, perinatal lethal

Criteria Provided
Single Submitter

1 SubmittersRCV004789983

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_000088.4(COL1A1):c.1742G>A (p.Gly581Glu)

SNV
Germline

Chr17:50193968

Likely pathogenic

Osteogenesis imperfecta, perinatal lethal
Osteogenesis imperfecta type III

Criteria Provided
Single Submitter

1 SubmittersRCV004795444

NM_000088.4(COL1A1):c.644G>A (p.Gly215Asp)

SNV
Germline

Chr17:50197784

Likely pathogenic

Osteogenesis imperfecta type III

Criteria Provided
Single Submitter

1 SubmittersRCV004795720

NM_000088.4(COL1A1):c.635G>A (p.Gly212Glu)

SNV
Germline

Chr17:50197956

Pathogenic/Likely pathogenic

8 conditions
Osteogenesis imperfecta with normal sclerae, dominant form

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004795817 RCV005627139

NM_006371.5(CRTAP):c.904C>T (p.Gln302Ter)

SNV
Germline

Chr3:33130049

Pathogenic

Osteogenesis imperfecta type 7

Criteria Provided
Single Submitter

1 SubmittersRCV004796456

NM_000089.4(COL1A2):c.1640G>T (p.Gly547Val)

SNV
Germline

Chr7:94413922

Likely pathogenic

Osteogenesis imperfecta, perinatal lethal
Osteogenesis imperfecta type III
Osteogenesis imperfecta with normal sclerae, dominant form

Criteria Provided
Single Submitter

1 SubmittersRCV004796458

NM_000088.4(COL1A1):c.824G>T (p.Gly275Val)

SNV
Germline

Chr17:50196651

Pathogenic

See cases
Osteogenesis imperfecta type I

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004798150 RCV006617206

NM_000089.4(COL1A2):c.1577G>T (p.Gly526Val)

SNV
Germline

Chr7:94413709

Likely pathogenic

Osteogenesis imperfecta, perinatal lethal

Criteria Provided
Single Submitter

1 SubmittersRCV004818815

NM_000942.5(PPIB):c.25A>G (p.Met9Val)

SNV
Germline

Chr15:64162962

Likely pathogenic

Osteogenesis imperfecta type 9

Criteria Provided
Single Submitter

1 SubmittersRCV005011875

NM_000942.5(PPIB):c.1A>T (p.Met1Leu)

SNV
Germline

Chr15:64162986

Likely pathogenic

Osteogenesis imperfecta type 9

Criteria Provided
Single Submitter

1 SubmittersRCV005011876

NM_000088.4(COL1A1):c.1563A>T (p.Gly521=)

SNV
Germline

Chr17:50194400

Conflicting classifications of pathogenicity

8 conditions
Osteogenesis imperfecta type I

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005023805 RCV006489134

NM_021939.4(FKBP10):c.726T>G (p.Tyr242Ter)

SNV
Germline

Chr17:41818526

Likely pathogenic

Bruck syndrome 1
Osteogenesis imperfecta type 11

Criteria Provided
Single Submitter

1 SubmittersRCV005020220

NM_021939.4(FKBP10):c.1400-1G>T

SNV
Germline

Chr17:41821653

Likely pathogenic

Bruck syndrome 1
Osteogenesis imperfecta type 11

Criteria Provided
Single Submitter

1 SubmittersRCV005020223

NM_021939.4(FKBP10):c.1564-2A>T

SNV
Germline

Chr17:41822221

Likely pathogenic

Bruck syndrome 1
Osteogenesis imperfecta type 11

Criteria Provided
Single Submitter

1 SubmittersRCV005020225

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

SNV
Germline

Chr1:42747325

Likely pathogenic

Osteogenesis imperfecta type 8

Criteria Provided
Single Submitter

2 SubmittersRCV005015860

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

SNV
Germline

Chr1:42762322

Likely pathogenic

Osteogenesis imperfecta type 8

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005028732

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

SNV
Germline

Chr1:42766505

Likely pathogenic

Osteogenesis imperfecta type 8

Criteria Provided
Multiple Submitters
No Conflicts

2 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_002615.7(SERPINF1):c.283+2T>G

SNV
Germline

Chr17:1770052

Likely pathogenic

Osteogenesis imperfecta type 6

Criteria Provided
Single Submitter

1 SubmittersRCV005010173

NM_006371.5(CRTAP):c.469A>T (p.Lys157Ter)

SNV
Germline

Chr3:33114546

Likely pathogenic

Osteogenesis imperfecta type 7

Criteria Provided
Single Submitter

1 SubmittersRCV005024608

NM_018112.3(TMEM38B):c.451C>T (p.Arg151Ter)

SNV
Germline

Chr9:105721718

Likely pathogenic

Osteogenesis imperfecta type 14

Criteria Provided
Single Submitter

1 SubmittersRCV005043655

NM_006129.5(BMP1):c.2029C>T (p.Gln677Ter)

SNV
Germline

Chr8:22197342

Likely pathogenic

Osteogenesis imperfecta type 13

Criteria Provided
Single Submitter

1 SubmittersRCV005041093

NM_006129.5(BMP1):c.2288G>A (p.Trp763Ter)

SNV
Germline

Chr8:22206908

Likely pathogenic

Osteogenesis imperfecta type 13

Criteria Provided
Single Submitter

1 SubmittersRCV005041094

NM_000089.4(COL1A2):c.1523G>T (p.Gly508Val)

SNV
Germline

Chr7:94413102

Pathogenic

7 conditions
Osteogenesis imperfecta with normal sclerae, dominant form

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005035943 RCV005627140

NM_001173467.3(SP7):c.810C>A (p.Cys270Ter)

SNV
Germline

Chr12:53328632

Likely pathogenic

Osteogenesis imperfecta type 12

Criteria Provided
Single Submitter

1 SubmittersRCV005002090

NM_000089.4(COL1A2):c.803G>A (p.Gly268Glu)

SNV
Germline

Chr7:94409332

Pathogenic

Condition: not provided
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005003841 RCV006565748

NM_000088.4(COL1A1):c.698G>C (p.Gly233Ala)

SNV
Germline

Chr17:50197232

Likely pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

1 SubmittersRCV005069025

NM_021939.4(FKBP10):c.1256+1G>A

SNV
Germline

Chr17:41820462

Pathogenic/Likely pathogenic

Osteogenesis imperfecta
Bruck syndrome 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

4 SubmittersRCV005088536 RCV005414298 RCV006489361

NM_000088.4(COL1A1):c.3434G>C (p.Gly1145Ala)

SNV
Germline

Chr17:50187112

Likely pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

1 SubmittersRCV005109343

NM_000088.4(COL1A1):c.2947G>T (p.Gly983Cys)

SNV
Germline

Chr17:50189001

Likely pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

1 SubmittersRCV005109345

NM_000088.4(COL1A1):c.2353G>C (p.Gly785Arg)

SNV
Germline

Chr17:50190587

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

1 SubmittersRCV005109348

NM_000088.4(COL1A1):c.1994G>C (p.Gly665Ala)

SNV
Germline

Chr17:50192014

Likely pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

1 SubmittersRCV005109349

NM_000088.4(COL1A1):c.1913G>C (p.Gly638Ala)

SNV
Germline

Chr17:50192656

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

1 SubmittersRCV005109350

NM_000088.4(COL1A1):c.1579G>A (p.Gly527Ser)

SNV
Germline

Chr17:50194384

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

1 SubmittersRCV005109351

NM_000088.4(COL1A1):c.1220G>A (p.Gly407Asp)

SNV
Germline

Chr17:50195311

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

1 SubmittersRCV005109352

NM_000088.4(COL1A1):c.734G>T (p.Gly245Val)

SNV
Germline

Chr17:50197196

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

1 SubmittersRCV005109354

NM_000088.4(COL1A1):c.599G>A (p.Gly200Asp)

SNV
Germline

Chr17:50197992

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

1 SubmittersRCV005109355

NM_000088.4(COL1A1):c.581G>T (p.Gly194Val)

SNV
Germline

Chr17:50198168

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

1 SubmittersRCV005109356

NM_000088.4(COL1A1):c.580G>T (p.Gly194Cys)

SNV
Germline

Chr17:50198169

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

1 SubmittersRCV005109357

NM_000088.4(COL1A1):c.562G>A (p.Gly188Ser)

SNV
Germline

Chr17:50198187

Likely pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005109358

NM_000088.4(COL1A1):c.425G>A (p.Gly142Glu)

SNV
Germline

Chr17:50199272

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

1 SubmittersRCV005109360

NM_000088.4(COL1A1):c.628G>T (p.Glu210Ter)

SNV
Germline

Chr17:50197963

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

1 SubmittersRCV005115797

NM_000088.4(COL1A1):c.1444G>T (p.Gly482Ter)

SNV
Germline

Chr17:50194738

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

1 SubmittersRCV005132423

NM_000088.4(COL1A1):c.103+1G>T

SNV
Germline

Chr17:50201410

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

1 SubmittersRCV005130894

NM_000088.4(COL1A1):c.1461+2T>A

SNV
Germline

Chr17:50194719

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

1 SubmittersRCV005124690

NM_000088.4(COL1A1):c.2677G>T (p.Gly893Ter)

SNV
Germline

Chr17:50189529

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

1 SubmittersRCV005124147

NM_000088.4(COL1A1):c.2559+2T>C

SNV
Germline

Chr17:50189999

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

1 SubmittersRCV005125887

NM_000088.4(COL1A1):c.2710G>T (p.Glu904Ter)

SNV
Germline

Chr17:50189496

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

1 SubmittersRCV005132699

NM_000088.4(COL1A1):c.1002+5G>C

SNV
Germline

Chr17:50196150

Likely pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

1 SubmittersRCV005143120

NM_000088.4(COL1A1):c.104-2A>C

SNV
Germline

Chr17:50199949

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

1 SubmittersRCV005140959

NM_000088.4(COL1A1):c.3873C>A (p.Cys1291Ter)

SNV
Germline

Chr17:50186449

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

1 SubmittersRCV005127427

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_000088.4(COL1A1):c.3958G>A (p.Asp1320Asn)

SNV
Germline

Chr17:50186364

Conflicting classifications of pathogenicity

Osteogenesis imperfecta type I
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005176684 RCV006352682

NM_000088.4(COL1A1):c.4099A>T (p.Thr1367Ser)

SNV
Germline

Chr17:50185927

Likely pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

1 SubmittersRCV005179824

NM_000088.4(COL1A1):c.1771G>T (p.Glu591Ter)

SNV
Germline

Chr17:50193044

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

1 SubmittersRCV005192467

NM_000088.4(COL1A1):c.243C>A (p.Cys81Ter)

SNV
Germline

Chr17:50199808

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

1 SubmittersRCV005186454

NM_000088.4(COL1A1):c.3808A>T (p.Lys1270Ter)

SNV
Germline

Chr17:50186646

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

1 SubmittersRCV005204079

NM_000088.4(COL1A1):c.298+1G>T

SNV
Germline

Chr17:50199752

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

1 SubmittersRCV005202065

NM_000088.4(COL1A1):c.588+2T>A

SNV
Germline

Chr17:50198159

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

1 SubmittersRCV005203233

NM_000088.4(COL1A1):c.3136G>T (p.Gly1046Cys)

SNV
Germline

Chr17:50188601

Pathogenic

Osteogenesis imperfecta type I
Osteogenesis imperfecta with normal sclerae, dominant form

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005201239 RCV005439206

NM_000088.4(COL1A1):c.2192G>C (p.Gly731Ala)

SNV
Germline

Chr17:50191426

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

1 SubmittersRCV005201241

NM_000088.4(COL1A1):c.1516-2A>G

SNV
Germline

Chr17:50194449

Pathogenic

Osteogenesis imperfecta type I
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005201249 RCV005631319

NM_000088.4(COL1A1):c.1390G>A (p.Gly464Arg)

SNV
Germline

Chr17:50194792

Pathogenic

Osteogenesis imperfecta type I
Osteogenesis imperfecta type III

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005201251 RCV005627141

NM_000088.4(COL1A1):c.1193G>C (p.Gly398Ala)

SNV
Germline

Chr17:50195441

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

1 SubmittersRCV005201254

NM_000088.4(COL1A1):c.1155+1G>A

SNV
Germline

Chr17:50195566

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

1 SubmittersRCV005201255

NM_000088.4(COL1A1):c.1021G>C (p.Gly341Arg)

SNV
Germline

Chr17:50195958

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

1 SubmittersRCV005201261

NM_000088.4(COL1A1):c.760G>A (p.Gly254Arg)

SNV
Germline

Chr17:50197054

Pathogenic

Osteogenesis imperfecta type I
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005201264 RCV005631320

NM_000088.4(COL1A1):c.642+1G>T

SNV
Germline

Chr17:50197948

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

1 SubmittersRCV005201265

NM_000088.4(COL1A1):c.589-1G>A

SNV
Germline

Chr17:50198003

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

1 SubmittersRCV005201266

NM_000088.4(COL1A1):c.2236-9T>A

SNV
Germline

Chr17:50190933

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

1 SubmittersRCV005201414

NM_000088.4(COL1A1):c.1056+1G>T

SNV
Germline

Chr17:50195922

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

1 SubmittersRCV005201567

NM_006371.5(CRTAP):c.1068+1G>T

SNV
Germline

Chr3:33132701

Likely pathogenic

Osteogenesis imperfecta type 7

Criteria Provided
Single Submitter

1 SubmittersRCV005199573

NM_000088.4(COL1A1):c.2028+2T>C

SNV
Germline

Chr17:50191978

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

1 SubmittersRCV005196508

NM_000089.4(COL1A2):c.3160G>A (p.Gly1054Ser)

SNV
Germline

Chr7:94427188

Likely pathogenic

Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

1 SubmittersRCV005215584

NM_000089.4(COL1A2):c.1828G>A (p.Gly610Ser)

SNV
Germline

Chr7:94416468

Likely pathogenic

Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I
Osteoporosis

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005218072 RCV005241141

NM_000089.4(COL1A2):c.1294C>T (p.Arg432Ter)

SNV
Germline

Chr7:94411098

Pathogenic

Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

1 SubmittersRCV005210880

NM_000089.4(COL1A2):c.2053G>A (p.Gly685Ser)

SNV
Germline

Chr7:94419525

Likely pathogenic

Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I
COL1A2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005215019 RCV005867326

NM_000089.4(COL1A2):c.1253G>C (p.Gly418Ala)

SNV
Germline

Chr7:94411057

Pathogenic

Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

1 SubmittersRCV005217401

NM_000089.4(COL1A2):c.1937G>A (p.Gly646Asp)

SNV
Germline

Chr7:94417797

Pathogenic

Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

1 SubmittersRCV005217430

NM_000089.4(COL1A2):c.1541G>A (p.Gly514Asp)

SNV
Germline

Chr7:94413120

Likely pathogenic

Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

1 SubmittersRCV005215154

NM_000089.4(COL1A2):c.1136G>T (p.Gly379Val)

SNV
Germline

Chr7:94410466

Pathogenic

Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

1 SubmittersRCV005215167

NM_000089.4(COL1A2):c.595G>C (p.Gly199Arg)

SNV
Germline

Chr7:94407847

Pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Single Submitter

1 SubmittersRCV005221200

NM_000089.4(COL1A2):c.693+2T>A

SNV
Germline

Chr7:94408238

Pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Single Submitter

1 SubmittersRCV005221201

NM_000089.4(COL1A2):c.792+1G>A

SNV
Germline

Chr7:94408824

Pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Single Submitter

1 SubmittersRCV005221202

NM_000089.4(COL1A2):c.928G>C (p.Gly310Arg)

SNV
Germline

Chr7:94409600

Pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Single Submitter

1 SubmittersRCV005221203

NM_000089.4(COL1A2):c.955G>A (p.Gly319Arg)

SNV
Germline

Chr7:94409741

Pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Single Submitter

1 SubmittersRCV005221204

NM_000089.4(COL1A2):c.1586G>A (p.Gly529Asp)

SNV
Germline

Chr7:94413718

Pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Single Submitter

1 SubmittersRCV005221205

NM_000089.4(COL1A2):c.2638G>A (p.Gly880Ser)

SNV
Germline

Chr7:94424408

Pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005221206 RCV005627142

NM_000089.4(COL1A2):c.3016G>A (p.Gly1006Ser)

SNV
Germline

Chr7:94426441

Pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Single Submitter

1 SubmittersRCV005221207

NM_000089.4(COL1A2):c.3107G>T (p.Gly1036Val)

SNV
Germline

Chr7:94427009

Pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Single Submitter

1 SubmittersRCV005221208

NM_000089.4(COL1A2):c.766G>A (p.Gly256Ser)

SNV
Germline

Chr7:94408797

Pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Single Submitter

1 SubmittersRCV005228965

NM_000089.4(COL1A2):c.2882G>T (p.Gly961Val)

SNV
Germline

Chr7:94425796

Conflicting classifications of pathogenicity

Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, cardiac valvular type

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005216761 RCV005407418

NM_000089.4(COL1A2):c.1550G>T (p.Gly517Val)

SNV
Germline

Chr7:94413129

Pathogenic

Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

1 SubmittersRCV005212448

NM_000089.4(COL1A2):c.2206G>A (p.Gly736Ser)

SNV
Germline

Chr7:94420559

Likely pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Single Submitter

1 SubmittersRCV005220628

NM_000089.4(COL1A2):c.2225G>C (p.Gly742Ala)

SNV
Germline

Chr7:94420578

Likely pathogenic

Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

1 SubmittersRCV005219993

NM_000089.4(COL1A2):c.1216G>T (p.Gly406Cys)

SNV
Germline

Chr7:94410907

Likely pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Single Submitter

1 SubmittersRCV005228317

NM_000089.4(COL1A2):c.1459G>C (p.Gly487Arg)

SNV
Germline

Chr7:94412638

Pathogenic/Likely pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta with normal sclerae, dominant form
Osteogenesis imperfecta, perinatal lethal
Osteogenesis imperfecta type III

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005228319 RCV005255010

NM_000089.4(COL1A2):c.1810G>A (p.Gly604Ser)

SNV
Germline

Chr7:94416450

Likely pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Single Submitter

1 SubmittersRCV005228320

NM_000089.4(COL1A2):c.2908G>T (p.Gly970Cys)

SNV
Germline

Chr7:94425822

Pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Single Submitter

1 SubmittersRCV005228322

NM_000089.4(COL1A2):c.3814T>A (p.Cys1272Ser)

SNV
Germline

Chr7:94429290

Pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Single Submitter

1 SubmittersRCV005228325

NM_000089.4(COL1A2):c.792+1G>C

SNV
Germline

Chr7:94408824

Pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Single Submitter

1 SubmittersRCV005224127

NM_000089.4(COL1A2):c.478G>C (p.Gly160Arg)

SNV
Germline

Chr7:94405244

Pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Single Submitter

1 SubmittersRCV005226646

NM_000088.4(COL1A1):c.2582C>G (p.Ala861Gly)

SNV
Germline

Chr17:50189890

Conflicting classifications of pathogenicity

not specified
Osteogenesis imperfecta type I

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005236866 RCV006489396

NM_000088.4(COL1A1):c.3897C>A (p.Cys1299Ter)

SNV
Unknown

Chr17:50186425

Pathogenic

Osteogenesis imperfecta with normal sclerae, dominant form

Criteria Provided
Single Submitter

1 SubmittersRCV005247912

NM_000088.4(COL1A1):c.3262-2A>G

SNV
Germline

Chr17:50187985

Pathogenic

Osteogenesis imperfecta
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005250431 RCV005631345

NM_000088.4(COL1A1):c.2560-2A>G

SNV
Germline

Chr17:50189914

Likely pathogenic

Osteogenesis imperfecta, perinatal lethal

Criteria Provided
Single Submitter

1 SubmittersRCV005252018

NM_000088.4(COL1A1):c.543+2T>G

SNV
Germline

Chr17:50198431

Likely pathogenic

Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV005253229

NM_000089.4(COL1A2):c.3116G>T (p.Gly1039Val)

SNV
Germline

Chr7:94427018

Likely pathogenic

Osteogenesis imperfecta, perinatal lethal

Criteria Provided
Single Submitter

1 SubmittersRCV005253469

NM_000088.4(COL1A1):c.932G>T (p.Gly311Val)

SNV
Germline

Chr17:50196339

Likely pathogenic

Osteogenesis imperfecta type III

Criteria Provided
Single Submitter

1 SubmittersRCV005254241

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_000088.4(COL1A1):c.2821G>T (p.Gly941Cys)

SNV
Germline

Chr17:50189385

Likely pathogenic

Osteogenesis imperfecta with normal sclerae, dominant form

Criteria Provided
Single Submitter

1 SubmittersRCV005368248

NM_052854.4(CREB3L1):c.595+2T>A

SNV
Germline

Chr11:46310069

Likely pathogenic

Osteogenesis imperfecta type 16

Criteria Provided
Single Submitter

1 SubmittersRCV005407472

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

SNV
Germline

Chr1:42754869

Likely pathogenic

Osteogenesis imperfecta

Criteria Provided
Single Submitter

1 SubmittersRCV005408183

NM_000088.4(COL1A1):c.2198G>A (p.Arg733His)

SNV
Germline

Chr17:50191420

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta type I

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005410704 RCV006479688

NM_000088.4(COL1A1):c.590G>A (p.Gly197Asp)

SNV
Germline

Chr17:50198001

Pathogenic

Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1
Osteogenesis imperfecta type I

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005412121 RCV006479696

NM_000088.4(COL1A1):c.2956G>A (p.Gly986Ser)

SNV
Germline

Chr17:50188992

Pathogenic/Likely pathogenic

Osteogenesis imperfecta type I
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005412141 RCV005867379

NM_000088.4(COL1A1):c.1900C>T (p.Gln634Ter)

SNV
Germline

Chr17:50192669

Likely pathogenic

Osteogenesis imperfecta with normal sclerae, dominant form
Osteogenesis imperfecta, perinatal lethal
Osteogenesis imperfecta type III
Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

1 SubmittersRCV005413216

NM_000089.4(COL1A2):c.2269G>T (p.Gly757Cys)

SNV
Germline

Chr7:94420622

Pathogenic

Osteogenesis imperfecta with normal sclerae, dominant form

Criteria Provided
Single Submitter

1 SubmittersRCV005415504

NM_000088.4(COL1A1):c.3370-2A>C

SNV
Germline

Chr17:50187539

Pathogenic

Osteogenesis imperfecta type III
Ovarian serous cystadenocarcinoma

Criteria Provided
Single Submitter

2 SubmittersRCV005415505 RCV005934151

NM_000088.4(COL1A1):c.931G>A (p.Gly311Ser)

SNV
Germline

Chr17:50196340

Likely pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

1 SubmittersRCV006451964

NM_000088.4(COL1A1):c.1789G>T (p.Glu597Ter)

SNV
Germline

Chr17:50193026

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

1 SubmittersRCV005420493

NM_000088.4(COL1A1):c.1932T>G (p.Gly644=)

SNV
Germline

Chr17:50192526

Conflicting classifications of pathogenicity

not specified
Osteogenesis imperfecta type I

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005431350 RCV006479772

NM_000088.4(COL1A1):c.3893C>T (p.Thr1298Ile)

SNV
Germline

Chr17:50186429

Likely pathogenic

Osteogenesis imperfecta type III

Criteria Provided
Single Submitter

1 SubmittersRCV005439216

NM_000088.4(COL1A1):c.3244G>A (p.Gly1082Ser)

SNV
Germline

Chr17:50188113

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

1 SubmittersRCV005439220

NM_000088.4(COL1A1):c.471+1G>A

SNV
Germline

Chr17:50199225

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

1 SubmittersRCV005439221

NM_000089.4(COL1A2):c.1882G>T (p.Gly628Cys)

SNV
Germline

Chr7:94417742

Pathogenic

Osteogenesis imperfecta, perinatal lethal

Criteria Provided
Single Submitter

1 SubmittersRCV005604020

NM_000088.4(COL1A1):c.589G>C (p.Gly197Arg)

SNV
Germline

Chr17:50198002

Pathogenic

Osteogenesis imperfecta with normal sclerae, dominant form

Criteria Provided
Single Submitter

1 SubmittersRCV005604855

NM_000088.4(COL1A1):c.3370-1G>T

SNV
Germline

Chr17:50187538

Likely pathogenic

Osteogenesis imperfecta type III

Criteria Provided
Single Submitter

1 SubmittersRCV005604858

NM_000088.4(COL1A1):c.3208-2A>T

SNV
Germline

Chr17:50188151

Likely pathogenic

Osteogenesis imperfecta with normal sclerae, dominant form

Criteria Provided
Single Submitter

1 SubmittersRCV005604859

NM_000088.4(COL1A1):c.3616C>T (p.Gln1206Ter)

SNV
Germline

Chr17:50186838

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

1 SubmittersRCV005604860

NM_000088.4(COL1A1):c.4336G>A (p.Asp1446Asn)

SNV
Germline

Chr17:50185561

Likely pathogenic

Osteogenesis imperfecta type III

Criteria Provided
Single Submitter

1 SubmittersRCV005604861

NM_000088.4(COL1A1):c.4051C>G (p.Gln1351Glu)

SNV
Germline

Chr17:50185975

Likely pathogenic

Osteogenesis imperfecta type III

Criteria Provided
Single Submitter

1 SubmittersRCV005604862

NM_000088.4(COL1A1):c.285C>A (p.Cys95Ter)

SNV
Germline

Chr17:50199766

Likely pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

1 SubmittersRCV005604863

NM_000088.4(COL1A1):c.3091G>A (p.Gly1031Ser)

SNV
Germline

Chr17:50188750

Likely pathogenic

Osteogenesis imperfecta type III

Criteria Provided
Single Submitter

1 SubmittersRCV005627156

NM_000088.4(COL1A1):c.4223A>C (p.Tyr1408Ser)

SNV
Germline

Chr17:50185803

Likely pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

1 SubmittersRCV005627157

NM_000088.4(COL1A1):c.896G>T (p.Gly299Val)

SNV
Germline

Chr17:50196491

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

1 SubmittersRCV005627159

NM_000088.4(COL1A1):c.940G>A (p.Gly314Arg)

SNV
Germline

Chr17:50196331

Pathogenic/Likely pathogenic

Osteogenesis imperfecta type III
COL1A1-related Ehlers-Danlos syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005627160 RCV005631361

NM_000089.4(COL1A2):c.1019G>C (p.Gly340Ala)

SNV
Germline

Chr7:94409805

Pathogenic

Osteogenesis imperfecta with normal sclerae, dominant form

Criteria Provided
Single Submitter

1 SubmittersRCV005627161

NM_000089.4(COL1A2):c.1081G>C (p.Gly361Arg)

SNV
Germline

Chr7:94410287

Pathogenic

Osteogenesis imperfecta with normal sclerae, dominant form

Criteria Provided
Single Submitter

1 SubmittersRCV005627162

NM_000089.4(COL1A2):c.1108G>A (p.Gly370Ser)

SNV
Germline

Chr7:94410438

Pathogenic

Osteogenesis imperfecta type III

Criteria Provided
Single Submitter

1 SubmittersRCV005627163

NM_000089.4(COL1A2):c.1145G>A (p.Gly382Asp)

SNV
Germline

Chr7:94410475

Likely pathogenic

Osteogenesis imperfecta type III

Criteria Provided
Single Submitter

1 SubmittersRCV005627164

NM_000089.4(COL1A2):c.1162G>A (p.Gly388Arg)

SNV
Germline

Chr7:94410492

Pathogenic

Osteogenesis imperfecta with normal sclerae, dominant form

Criteria Provided
Single Submitter

1 SubmittersRCV005627165

NM_000089.4(COL1A2):c.1441G>T (p.Gly481Cys)

SNV
Germline

Chr7:94412620

Pathogenic

Osteogenesis imperfecta with normal sclerae, dominant form

Criteria Provided
Single Submitter

1 SubmittersRCV005627166

NM_000089.4(COL1A2):c.1495G>A (p.Gly499Ser)

SNV
Germline

Chr7:94412674

Pathogenic

Osteogenesis imperfecta with normal sclerae, dominant form
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005627167 RCV006445077

NM_000089.4(COL1A2):c.1503+2T>A

SNV
Germline

Chr7:94412684

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

1 SubmittersRCV005627168

NM_000089.4(COL1A2):c.1558G>A (p.Gly520Ser)

SNV
Germline

Chr7:94413690

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

1 SubmittersRCV005627169

NM_000089.4(COL1A2):c.1667G>A (p.Gly556Asp)

SNV
Germline

Chr7:94414223

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

1 SubmittersRCV005627170

NM_000089.4(COL1A2):c.1684G>A (p.Gly562Ser)

SNV
Germline

Chr7:94414240

Pathogenic

Osteogenesis imperfecta with normal sclerae, dominant form

Criteria Provided
Single Submitter

1 SubmittersRCV005627171

NM_000089.4(COL1A2):c.2027G>T (p.Gly676Val)

SNV
Germline

Chr7:94419499

Pathogenic

Osteogenesis imperfecta type III

Criteria Provided
Single Submitter

1 SubmittersRCV005627172

NM_000089.4(COL1A2):c.2089G>T (p.Gly697Trp)

SNV
Germline

Chr7:94420242

Pathogenic

Osteogenesis imperfecta with normal sclerae, dominant form

Criteria Provided
Single Submitter

1 SubmittersRCV005627173

NM_000089.4(COL1A2):c.2134G>A (p.Gly712Ser)

SNV
Germline

Chr7:94420391

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

1 SubmittersRCV005627174

NM_000089.4(COL1A2):c.2440G>A (p.Gly814Arg)

SNV
Germline

Chr7:94422993

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

1 SubmittersRCV005627177

NM_000089.4(COL1A2):c.2908G>C (p.Gly970Arg)

SNV
Germline

Chr7:94425822

Pathogenic

Osteogenesis imperfecta with normal sclerae, dominant form

Criteria Provided
Single Submitter

1 SubmittersRCV005627178

NM_000089.4(COL1A2):c.3251G>A (p.Gly1084Asp)

SNV
Germline

Chr7:94427279

Pathogenic

Osteogenesis imperfecta with normal sclerae, dominant form

Criteria Provided
Single Submitter

1 SubmittersRCV005627180

NM_000089.4(COL1A2):c.497G>T (p.Gly166Val)

SNV
Germline

Chr7:94405683

Pathogenic

Osteogenesis imperfecta type I
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005627182 RCV006568393

NM_000089.4(COL1A2):c.568G>A (p.Gly190Arg)

SNV
Germline

Chr7:94406277

Pathogenic

Osteogenesis imperfecta type I
Osteogenesis imperfecta with normal sclerae, dominant form

Criteria Provided
Single Submitter

1 SubmittersRCV005627184 RCV005627183

NM_000089.4(COL1A2):c.577G>T (p.Gly193Cys)

SNV
Germline

Chr7:94406286

Pathogenic

Osteogenesis imperfecta with normal sclerae, dominant form
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005627185 RCV005631362

NM_000089.4(COL1A2):c.686G>A (p.Gly229Asp)

SNV
Germline

Chr7:94408229

Pathogenic

Osteogenesis imperfecta type III

Criteria Provided
Single Submitter

1 SubmittersRCV005627186

NM_000089.4(COL1A2):c.694-2A>G

SNV
Germline

Chr7:94408334

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

1 SubmittersRCV005627187

NM_000089.4(COL1A2):c.740G>A (p.Gly247Asp)

SNV
Germline

Chr7:94408771

Pathogenic

Osteogenesis imperfecta type III

Criteria Provided
Single Submitter

1 SubmittersRCV005627188

NM_000089.4(COL1A2):c.758G>A (p.Gly253Asp)

SNV
Germline

Chr7:94408789

Pathogenic

Osteogenesis imperfecta with normal sclerae, dominant form
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005627189 RCV005639659

NM_000089.4(COL1A2):c.820G>C (p.Gly274Arg)

SNV
Germline

Chr7:94409349

Pathogenic

Osteogenesis imperfecta with normal sclerae, dominant form
Osteogenesis imperfecta

Criteria Provided
Single Submitter

2 SubmittersRCV005627190 RCV005628413

NM_000089.4(COL1A2):c.847G>T (p.Gly283Cys)

SNV
Germline

Chr7:94409376

Pathogenic

Osteogenesis imperfecta with normal sclerae, dominant form

Criteria Provided
Single Submitter

1 SubmittersRCV005627191

NM_000089.4(COL1A2):c.892G>T (p.Gly298Cys)

SNV
Germline

Chr7:94409564

Pathogenic

Osteogenesis imperfecta with normal sclerae, dominant form

Criteria Provided
Single Submitter

1 SubmittersRCV005627192

NM_000089.4(COL1A2):c.911G>T (p.Gly304Val)

SNV
Germline

Chr7:94409583

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

1 SubmittersRCV005627193

NM_005430.4(WNT1):c.502G>A (p.Gly168Arg)

SNV
Germline

Chr12:48980567

Likely pathogenic

Osteogenesis imperfecta type 15

No Assertion Criteria Provided

1 SubmittersRCV005628422

NM_002615.7(SERPINF1):c.283+2T>C

SNV
Germline

Chr17:1770052

Pathogenic

Osteogenesis imperfecta type 6
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005628664 RCV006568405

NM_000088.4(COL1A1):c.4364G>T (p.Gly1455Val)

SNV
Germline

Chr17:50185533

Likely pathogenic

Condition: not provided
Osteogenesis imperfecta type I

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005636276 RCV006435442

NM_006129.5(BMP1):c.835A>G (p.Arg279Gly)

SNV
Germline

Chr8:22177956

Pathogenic

Osteogenesis imperfecta type 13

Criteria Provided
Single Submitter

1 SubmittersRCV005638343

NM_000088.4(COL1A1):c.2752C>G (p.Arg918Gly)

SNV
Germline

Chr17:50189454

Likely pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

1 SubmittersRCV005860806

NM_000088.4(COL1A1):c.733G>A (p.Gly245Arg)

SNV
Germline

Chr17:50197197

Likely pathogenic

Osteogenesis imperfecta, perinatal lethal

Criteria Provided
Single Submitter

1 SubmittersRCV005862064

NM_000089.4(COL1A2):c.3815G>A (p.Cys1272Tyr)

SNV
Germline

Chr7:94429291

Pathogenic

Osteogenesis imperfecta with normal sclerae, dominant form

Criteria Provided
Single Submitter

1 SubmittersRCV005862065

NM_052854.4(CREB3L1):c.1042C>T (p.Gln348Ter)

SNV
Germline

Chr11:46316296

Likely pathogenic

Osteogenesis imperfecta type 16

Criteria Provided
Single Submitter

1 SubmittersRCV005862066

NM_000089.4(COL1A2):c.2197G>T (p.Gly733Cys)

SNV
Germline

Chr7:94420550

Pathogenic/Likely pathogenic

Osteogenesis imperfecta with normal sclerae, dominant form
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005864738 RCV006569232

NM_021939.4(FKBP10):c.1002C>A (p.Cys334Ter)

SNV
Germline

Chr17:41819614

Pathogenic

Osteogenesis imperfecta type 11

Criteria Provided
Single Submitter

1 SubmittersRCV005880524

NM_000088.4(COL1A1):c.1767+5G>A

SNV
Germline

Chr17:50193938

Conflicting classifications of pathogenicity

COL1A1-related disorder
Osteogenesis imperfecta type I

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005884465 RCV006490047

NM_000088.4(COL1A1):c.182G>A (p.Cys61Tyr)

SNV
Germline

Chr17:50199869

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

1 SubmittersRCV005938247

NM_000088.4(COL1A1):c.589-1G>T

SNV
Germline

Chr17:50198003

Pathogenic

Thyroid cancer, nonmedullary, 1
Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

2 SubmittersRCV006117364 RCV006475259

NM_000088.4(COL1A1):c.2020G>A (p.Gly674Arg)

SNV
Germline

Chr17:50191988

Likely pathogenic

Osteogenesis imperfecta, perinatal lethal

Criteria Provided
Single Submitter

1 SubmittersRCV006249455

NM_000088.4(COL1A1):c.1663C>A (p.Pro555Thr)

SNV
Germline

Chr17:50194135

Likely pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

1 SubmittersRCV006249530

NM_000088.4(COL1A1):c.2254G>T (p.Gly752Cys)

SNV
Germline

Chr17:50190906

Likely pathogenic

Osteogenesis imperfecta type I

No Assertion Criteria Provided

1 SubmittersRCV006255263

NM_000088.4(COL1A1):c.3335G>T (p.Gly1112Val)

SNV
Germline

Chr17:50187910

Likely pathogenic

Osteogenesis imperfecta, perinatal lethal
Osteogenesis imperfecta with normal sclerae, dominant form
Osteogenesis imperfecta type I
Osteogenesis imperfecta type III

Criteria Provided
Single Submitter

1 SubmittersRCV006257455

NM_021939.4(FKBP10):c.1A>G (p.Met1Val)

SNV
Germline

Chr17:41813035

Likely pathogenic

Osteogenesis imperfecta type 11

Criteria Provided
Single Submitter

1 SubmittersRCV006257464

NM_000088.4(COL1A1):c.2921G>A (p.Gly974Asp)

SNV
Germline

Chr17:50189184

Pathogenic

Osteogenesis imperfecta, perinatal lethal

Criteria Provided
Single Submitter

1 SubmittersRCV006257882

NM_000088.4(COL1A1):c.967G>A (p.Gly323Arg)

SNV
Germline

Chr17:50196190

Pathogenic

Osteogenesis imperfecta, perinatal lethal

Criteria Provided
Single Submitter

1 SubmittersRCV006257883

NM_000088.4(COL1A1):c.743G>A (p.Gly248Glu)

SNV
Germline

Chr17:50197187

Pathogenic

Osteogenesis imperfecta, perinatal lethal

Criteria Provided
Single Submitter

1 SubmittersRCV006257884

NM_000089.4(COL1A2):c.1415G>A (p.Gly472Asp)

SNV
Germline

Chr7:94412594

Likely pathogenic

Osteogenesis imperfecta, perinatal lethal

Criteria Provided
Single Submitter

1 SubmittersRCV006258300

NM_000089.4(COL1A2):c.279+1G>C

SNV
Germline

Chr7:94401621

Pathogenic

Condition: not provided
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV006263093 RCV006569350

NM_022356.4(P3H1):c.1224-80G>A

SNV
Germline

Chr1:42755070

Likely pathogenic

Osteogenesis imperfecta

Criteria Provided
Single Submitter

1 SubmittersRCV006270117

NM_000089.4(COL1A2):c.1863+1G>A

SNV
Germline

Chr7:94416504

Pathogenic

Osteogenesis imperfecta, perinatal lethal

Criteria Provided
Single Submitter

1 SubmittersRCV006275817

NM_000089.4(COL1A2):c.2027G>C (p.Gly676Ala)

SNV
Germline

Chr7:94419499

Pathogenic/Likely pathogenic

Condition: not provided
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV006280147 RCV006569405

NM_000088.4(COL1A1):c.2762A>T (p.Glu921Val)

SNV
Germline

Chr17:50189444

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta type I

Criteria Provided
Conflicting Classifications

2 SubmittersRCV006276971 RCV006475451

NM_000089.4(COL1A2):c.1199G>C (p.Gly400Ala)

SNV
Germline

Chr7:94410890

Pathogenic/Likely pathogenic

Ehlers-Danlos syndrome, cardiac valvular type
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV006460917 RCV006569984

NM_000942.5(PPIB):c.497A>C (p.His166Pro)

SNV
Germline

Chr15:64156756

Likely pathogenic

Osteogenesis imperfecta

Criteria Provided
Single Submitter

1 SubmittersRCV006460998

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

SNV
Germline

Chr1:42747271

Pathogenic

Osteogenesis imperfecta type 8

Criteria Provided
Single Submitter

1 SubmittersRCV006498636

NM_000088.4(COL1A1):c.3814+2T>G

SNV
Germline

Chr17:50186638

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

1 SubmittersRCV006510124

NM_000088.4(COL1A1):c.3505G>T (p.Gly1169Cys)

SNV
Germline

Chr17:50187041

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

1 SubmittersRCV006510126

NM_000088.4(COL1A1):c.3262G>T (p.Gly1088Ter)

SNV
Germline

Chr17:50187983

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

1 SubmittersRCV006510127

NM_000088.4(COL1A1):c.2869C>T (p.Gln957Ter)

SNV
Germline

Chr17:50189236

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

1 SubmittersRCV006510130

NM_000088.4(COL1A1):c.2209G>T (p.Gly737Cys)

SNV
Germline

Chr17:50191409

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

1 SubmittersRCV006510133

NM_000088.4(COL1A1):c.1354-1G>A

SNV
Germline

Chr17:50194829

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

1 SubmittersRCV006510138

NM_000088.4(COL1A1):c.859-2A>C

SNV
Germline

Chr17:50196530

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

1 SubmittersRCV006510141

NM_000088.4(COL1A1):c.725G>A (p.Gly242Asp)

SNV
Germline

Chr17:50197205

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

1 SubmittersRCV006510142

NM_000088.4(COL1A1):c.104-1G>C

SNV
Germline

Chr17:50199948

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

1 SubmittersRCV006510144

NM_000088.4(COL1A1):c.2667+2T>A

SNV
Germline

Chr17:50189677

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

1 SubmittersRCV006505934

NM_000088.4(COL1A1):c.2T>A (p.Met1Lys)

SNV
Germline

Chr17:50201512

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

1 SubmittersRCV006496838

NM_000088.4(COL1A1):c.3262-2A>C

SNV
Germline

Chr17:50187985

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

1 SubmittersRCV006511906

NM_000088.4(COL1A1):c.3889G>T (p.Glu1297Ter)

SNV
Germline

Chr17:50186433

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

1 SubmittersRCV006502887

NM_000088.4(COL1A1):c.3460G>T (p.Gly1154Ter)

SNV
Germline

Chr17:50187086

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

1 SubmittersRCV006497817

NM_000088.4(COL1A1):c.2236G>A (p.Gly746Ser)

SNV
Germline

Chr17:50190924

Likely pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

1 SubmittersRCV006524305

NM_000088.4(COL1A1):c.2397+4A>C

SNV
Germline

Chr17:50190539

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

1 SubmittersRCV006523455

NM_000088.4(COL1A1):c.1768G>T (p.Gly590Ter)

SNV
Germline

Chr17:50193047

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

1 SubmittersRCV006530158

NM_000088.4(COL1A1):c.369+1G>T

SNV
Germline

Chr17:50199417

Likely pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

1 SubmittersRCV006530567

NM_000088.4(COL1A1):c.4005+1G>T

SNV
Germline

Chr17:50186316

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

1 SubmittersRCV006516030

NM_000088.4(COL1A1):c.2938-2A>T

SNV
Germline

Chr17:50189012

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

1 SubmittersRCV006516497

NM_000088.4(COL1A1):c.495T>G (p.Tyr165Ter)

SNV
Germline

Chr17:50198481

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

1 SubmittersRCV006544200

NM_000088.4(COL1A1):c.495T>A (p.Tyr165Ter)

SNV
Germline

Chr17:50198481

Pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

1 SubmittersRCV006544201

NM_022356.4(P3H1):c.1838+1G>T

SNV
Germline

Chr1:42748199

Likely pathogenic

Osteogenesis imperfecta type 8

Criteria Provided
Single Submitter

1 SubmittersRCV006570649

NM_000089.4(COL1A2):c.2351G>C (p.Gly784Ala)

SNV
Germline

Chr7:94421900

Likely pathogenic

Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

1 SubmittersRCV006602865

NM_000089.4(COL1A2):c.560G>A (p.Gly187Glu)

SNV
Germline

Chr7:94406269

Pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Single Submitter

1 SubmittersRCV006603273

NM_000089.4(COL1A2):c.2305G>C (p.Gly769Arg)

SNV
Germline

Chr7:94421018

Pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Single Submitter

1 SubmittersRCV006603274

NM_000089.4(COL1A2):c.866G>A (p.Gly289Asp)

SNV
Germline

Chr7:94409395

Pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Single Submitter

1 SubmittersRCV006590394

NM_000089.4(COL1A2):c.639+2T>C

SNV
Germline

Chr7:94407893

Likely pathogenic

Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

1 SubmittersRCV006598945

NM_000089.4(COL1A2):c.3537G>A (p.Trp1179Ter)

SNV
Germline

Chr7:94428303

Pathogenic

Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

1 SubmittersRCV006599117

NM_000089.4(COL1A2):c.793G>A (p.Gly265Ser)

SNV
Germline

Chr7:94409322

Pathogenic

Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

1 SubmittersRCV006602658

NM_000089.4(COL1A2):c.380G>A (p.Gly127Asp)

SNV
Germline

Chr7:94404840

Pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Single Submitter

1 SubmittersRCV006598309

NM_000089.4(COL1A2):c.2143G>A (p.Gly715Ser)

SNV
Germline

Chr7:94420400

Pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Single Submitter

1 SubmittersRCV006598311

NM_000089.4(COL1A2):c.4082G>T (p.Gly1361Val)

SNV
Germline

Chr7:94430374

Likely pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Single Submitter

1 SubmittersRCV006598312

NM_000089.4(COL1A2):c.2137G>T (p.Glu713Ter)

SNV
Germline

Chr7:94420394

Pathogenic

Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

1 SubmittersRCV006595097

NM_000089.4(COL1A2):c.524G>A (p.Gly175Asp)

SNV
Germline

Chr7:94405710

Likely pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Single Submitter

1 SubmittersRCV006594576

NM_000089.4(COL1A2):c.703G>A (p.Gly235Ser)

SNV
Germline

Chr7:94408345

Likely pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Single Submitter

1 SubmittersRCV006594577

NM_000089.4(COL1A2):c.847G>A (p.Gly283Ser)

SNV
Germline

Chr7:94409376

Pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Single Submitter

1 SubmittersRCV006594579

NM_000089.4(COL1A2):c.902G>A (p.Gly301Glu)

SNV
Germline

Chr7:94409574

Pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Single Submitter

1 SubmittersRCV006594580

NM_000089.4(COL1A2):c.1342G>A (p.Gly448Arg)

SNV
Germline

Chr7:94411146

Pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Single Submitter

1 SubmittersRCV006594582

NM_000089.4(COL1A2):c.1567G>A (p.Gly523Ser)

SNV
Germline

Chr7:94413699

Pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Single Submitter

1 SubmittersRCV006594583

NM_000089.4(COL1A2):c.2133+1G>A

SNV
Germline

Chr7:94420287

Likely pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Single Submitter

1 SubmittersRCV006591519

NM_000089.4(COL1A2):c.2359G>A (p.Gly787Ser)

SNV
Germline

Chr7:94421908

Pathogenic

Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

1 SubmittersRCV006603591

NM_000089.4(COL1A2):c.3518G>A (p.Trp1173Ter)

SNV
Germline

Chr7:94427877

Pathogenic

Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

1 SubmittersRCV006600576

NM_052854.4(CREB3L1):c.1267C>T (p.Arg423Ter)

SNV
Germline

Chr11:46320272

Pathogenic

Osteogenesis imperfecta type 16

Criteria Provided
Single Submitter

1 SubmittersRCV006606009

NM_000088.4(COL1A1):c.3226G>C (p.Gly1076Arg)

SNV
Germline

Chr17:50188131

Pathogenic

Osteogenesis imperfecta, perinatal lethal
Osteogenesis imperfecta type III
Osteogenesis imperfecta type I
Osteogenesis imperfecta with normal sclerae, dominant form

Criteria Provided
Single Submitter

1 SubmittersRCV006606053

NM_000088.4(COL1A1):c.3038G>C (p.Gly1013Ala)

SNV
Germline

Chr17:50188910

Likely pathogenic

Osteogenesis imperfecta type I

Criteria Provided
Single Submitter

1 SubmittersRCV006625309

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

SNV
Germline

Chr1:42755546