Total 2311 pathogenic variants reported for Osteogenesis imperfecta 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_022356.4(P3H1):c.1080+1G>T SNV
Germline		 Chr1:42757782 Pathogenic Osteogenesis imperfecta type 8
Condition: not provided
Osteogenesis imperfecta
P3H1-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA212756 rs_72659351

12 SubmittersRCV000001315RCV000255762RCV002276526RCV003914795
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 No Assertion Criteria Provided
 CA114880 rs_72659355

1 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 SubmittersRCV000001320RCV000224137
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 SubmittersRCV000001321RCV003153292
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
 rs_72659360

2 SubmittersRCV000005235RCV003407276
NM_006371.5(CRTAP):c.471+1G>C SNV
Germline		 Chr3:33114549 Pathogenic Osteogenesis imperfecta type 7 No Assertion Criteria Provided
 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

5 SubmittersRCV000005238RCV001269605
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 SubmittersRCV000005239RCV002468961
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 SubmittersRCV000006653RCV001851703RCV002276534
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
Increased bone mineral density
Osteogenesis imperfecta
8 conditions
Retinal dystrophy		 Criteria Provided
Conflicting Classifications
 CA213422 rs_4988321

16 SubmittersRCV000006654RCV000086953RCV000250939RCV002276536RCV002276535RCV002496286RCV004814844
NM_000478.6(ALPL):c.881A>C (p.Asp294Ala) SNV
Germline		 Chr1:21573683 Pathogenic Condition: not provided
Hypophosphatasia
Infantile hypophosphatasia
Childhood hypophosphatasia
Adult hypophosphatasia
Osteogenesis imperfecta
Childhood hypophosphatasia
Infantile hypophosphatasia
Adult hypophosphatasia
ALPL-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA256921 rs_121918002

15 SubmittersRCV000224505RCV000589324RCV000014650RCV000014651RCV000014652RCV002276545RCV002496362RCV004549362
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
Osteogenesis imperfecta
Inborn genetic diseases
See cases
ALPL-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA256927 rs_121918007

36 SubmittersRCV000014658RCV000014659RCV000014660RCV000207183RCV000224962RCV000763300RCV001250150RCV002276546RCV002513051RCV004584327RCV004739305
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

15 SubmittersRCV000014663RCV000207270RCV000224376RCV000763301RCV000786923RCV002276547RCV004549365
NM_000478.6(ALPL):c.407G>A (p.Arg136His) SNV
Germline		 Chr1:21563219 Pathogenic/Likely pathogenic Childhood hypophosphatasia
Infantile hypophosphatasia
Condition: not provided
Adult hypophosphatasia
Hypophosphatasia
Osteogenesis imperfecta
Childhood hypophosphatasia
Infantile hypophosphatasia
Adult hypophosphatasia
Odontohypophosphatasia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA256932 rs_121918011

21 SubmittersRCV000014666RCV000169168RCV000767525RCV000770988RCV000364426RCV002276548RCV002490366RCV004798728
NM_000478.6(ALPL):c.526G>A (p.Ala176Thr) SNV
Germline		 Chr1:21564094 Pathogenic/Likely pathogenic Condition: not provided
Infantile hypophosphatasia
Childhood hypophosphatasia
Hypophosphatasia
Childhood hypophosphatasia
Infantile hypophosphatasia
Adult hypophosphatasia
Adult hypophosphatasia
ALPL-related disorder
Osteogenesis imperfecta		 Criteria Provided
Multiple Submitters
No Conflicts
 CA256935 rs_121918019

18 SubmittersRCV000808101RCV000014677RCV000014678RCV001275108RCV000763299RCV002288490RCV004549369RCV002276549
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 SubmittersRCV000018434RCV000024534
NM_000942.5(PPIB):c.26T>G (p.Met9Arg) SNV
Germline		 Chr15:64162961 Pathogenic Osteogenesis imperfecta type 9
Condition: not provided		 No Assertion Criteria Provided
 CA210830 rs_137853864

2 SubmittersRCV000018435RCV000024544
NM_000089.4(COL1A2):c.279+2T>C SNV
Germline		 Chr7:94401622 Pathogenic Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
Ehlers-danlos syndrome, arthrochalasia type, 2		 Criteria Provided
Single Submitter
 CA212996 rs_72656357

2 SubmittersRCV002228037RCV000018773
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 SubmittersRCV000321212RCV000018775
NM_000089.4(COL1A2):c.2720G>A (p.Gly907Asp) SNV
Germline		 Chr7:94425163 Pathogenic Osteogenesis imperfecta, perinatal lethal
Condition: not provided		 Criteria Provided
Single Submitter
 CA257750 rs_121912900

2 SubmittersRCV000018779RCV002281710
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 No Assertion Criteria Provided
 CA257765 rs_121912905

1 SubmittersRCV000018787
NM_000089.4(COL1A2):c.1612-2A>G SNV
Germline		 Chr7:94413892 Pathogenic Osteogenesis imperfecta, perinatal lethal No Assertion Criteria Provided
 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
not specified
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		 Criteria Provided
Conflicting Classifications
 CA210743 rs_72658163

10 SubmittersRCV000018790RCV000413739RCV000680486RCV001162671RCV001162670RCV001200183RCV001330774RCV002228038RCV002415422
NM_000089.4(COL1A2):c.2025+5G>A SNV
Germline		 Chr7:94418557 Pathogenic Osteogenesis imperfecta, perinatal lethal No Assertion Criteria Provided
 rs_72658157

1 SubmittersRCV000018792
NM_000089.4(COL1A2):c.1757G>T (p.Gly586Val) SNV
Germline		 Chr7:94415263 Pathogenic Osteogenesis imperfecta type III
Osteogenesis imperfecta with normal sclerae, dominant form		 No Assertion Criteria Provided
 CA257771 rs_121912907

1 SubmittersRCV000018794RCV000018793
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		 Criteria Provided
Single Submitter
 CA257780 rs_72658200

2 SubmittersRCV000018802RCV003226163
NM_000089.4(COL1A2):c.1504G>A (p.Gly502Ser) SNV
Germline		 Chr7:94413083 Likely pathogenic Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta, perinatal lethal		 Criteria Provided
Single Submitter
 CA257783 rs_121912910

2 SubmittersRCV002513109RCV000018803
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
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1		 Criteria Provided
Single Submitter
 CA257792 rs_72658176

2 SubmittersRCV000018808RCV002228039
NM_000089.4(COL1A2):c.432+5G>A SNV
Germline		 Chr7:94404897 Pathogenic Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1		 Criteria Provided
Single Submitter
 rs_72656364

2 SubmittersRCV000018810RCV003764609
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
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
COL1A2-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA212997 rs_72656355

6 SubmittersRCV000018811RCV000433468RCV002276561RCV002228040RCV004742229
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
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1		 Criteria Provided
Single Submitter
 CA257797 rs_121912912

2 SubmittersRCV000018819RCV002228041
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 SubmittersRCV000018826RCV002247357
NM_000088.4(COL1A1):c.1057G>T (p.Gly353Cys) SNV
Germline		 Chr17:50195665 Pathogenic Osteogenesis imperfecta type I
Osteogenesis imperfecta with normal sclerae, dominant form		 Criteria Provided
Single Submitter
 CA257812 rs_66721653

2 SubmittersRCV002513110RCV000018827
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		 No Assertion Criteria Provided
 CA257818 rs_67368147

2 SubmittersRCV000018829RCV000490665
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 type I
Osteogenesis imperfecta, perinatal lethal
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA257827 rs_72653136

6 SubmittersRCV001236925RCV000018832RCV000991594
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 SubmittersRCV000018833RCV002464069
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 SubmittersRCV000018837RCV004549376
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.3583G>T (p.Gly1195Cys) SNV
Germline		 Chr17:50186871 Pathogenic Osteogenesis imperfecta No Assertion Criteria Provided
 rs_72656334

1 SubmittersRCV000018845
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		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10575534 rs_72667022

4 SubmittersRCV000018852RCV001851923
NM_000088.4(COL1A1):c.994G>A (p.Gly332Arg) SNV
Germline		 Chr17:50196163 Pathogenic Osteogenesis imperfecta
Condition: not provided
Osteogenesis imperfecta with normal sclerae, dominant form
Osteogenesis imperfecta type I
7 conditions
Osteogenesis imperfecta type III
COL1A1-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA257866 rs_72645357

8 SubmittersRCV000029586RCV000480634RCV000490676RCV000692051RCV000763413RCV000018853RCV004549377
NM_000088.4(COL1A1):c.3541G>A (p.Gly1181Ser) SNV
Germline		 Chr17:50186913 Pathogenic/Likely pathogenic 8 conditions
Osteogenesis imperfecta, perinatal lethal
Condition: not provided
Osteogenesis imperfecta type I		 Criteria Provided
Multiple Submitters
No Conflicts
 CA257869 rs_72656330

4 SubmittersRCV004795927RCV000018854RCV001811189RCV004558269
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 8 conditions
Osteogenesis imperfecta, type III/IV		 Criteria Provided
Single Submitter
 CA127133 rs_66527965

2 SubmittersRCV004795928RCV000018856
NM_000088.4(COL1A1):c.787G>A (p.Gly263Arg) SNV
Germline		 Chr17:50197027 Pathogenic Osteogenesis imperfecta No Assertion Criteria Provided
 CA257875 rs_72645323

1 SubmittersRCV000018857
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 Osteogenesis imperfecta, perinatal lethal
Condition: not provided		 Criteria Provided
Single Submitter
 CA257878 rs_72656321

2 SubmittersRCV000018859RCV000657897
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 SubmittersRCV000018861RCV001385346
NM_000088.4(COL1A1):c.957+5G>A SNV
Germline		 Chr17:50196309 Pathogenic Osteogenesis imperfecta, perinatal lethal No Assertion Criteria Provided
 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
Osteogenesis imperfecta type I
Osteogenesis imperfecta with normal sclerae, dominant form
Osteogenesis imperfecta, perinatal lethal
Osteogenesis imperfecta type III
COL1A1-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA281089 rs_72654802

8 SubmittersRCV000018863RCV001596935RCV004795929RCV004549378
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 SubmittersRCV000018864RCV003228896
NM_000088.4(COL1A1):c.1588G>A (p.Gly530Ser) SNV
Germline		 Chr17:50194375 Pathogenic Osteogenesis imperfecta type III
Condition: not provided
Osteogenesis imperfecta type I		 Criteria Provided
Multiple Submitters
No Conflicts
 CA257887 rs_67682641

4 SubmittersRCV000018865RCV003327362RCV000548768
NM_000088.4(COL1A1):c.1777G>A (p.Gly593Ser) SNV
Germline		 Chr17:50193038 Pathogenic/Likely pathogenic Osteogenesis imperfecta, perinatal lethal
Condition: not provided
27 conditions
Abnormality of the skeletal system		 Criteria Provided
Multiple Submitters
No Conflicts
 CA257890 rs_66527965

4 SubmittersRCV000018867RCV001596936RCV000626590RCV001813997
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		 Criteria Provided
Multiple Submitters
No Conflicts
 CA257899 rs_72653178

9 SubmittersRCV000018871RCV000518360RCV001245193
NM_000088.4(COL1A1):c.2515G>A (p.Gly839Ser) SNV
Germline		 Chr17:50190045 Pathogenic Osteogenesis imperfecta type III
Osteogenesis imperfecta with normal sclerae, dominant form		 No Assertion Criteria Provided
 CA257902 rs_72653131

2 SubmittersRCV000018872RCV000490682
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 SubmittersRCV000018873RCV003517128
NM_000088.4(COL1A1):c.572G>C (p.Gly191Ala) SNV
Germline		 Chr17:50198177 Likely pathogenic Osteogenesis imperfecta type I
Osteogenesis imperfecta type 1, mild		 Criteria Provided
Single Submitter
 CA127143 rs_67828806

2 SubmittersRCV001242940RCV000018875
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		 Criteria Provided
Multiple Submitters
No Conflicts
 CA281092 rs_72656314

9 SubmittersRCV000018878RCV000582506RCV000599479
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
 rs_67364703

1 SubmittersRCV000018882
NM_000088.4(COL1A1):c.934C>T (p.Arg312Cys) SNV
Germline		 Chr17:50196337 Pathogenic/Likely pathogenic Ehlers-Danlos syndrome
8 conditions
Condition: not provided
Ehlers-Danlos syndrome, classic type
Bruising susceptibility
Fragile skin
Joint hypermobility
Osteogenesis imperfecta type I
Osteogenesis imperfecta with normal sclerae, dominant form		 Criteria Provided
Multiple Submitters
No Conflicts
 CA281095 rs_72645347

8 SubmittersRCV002276563RCV002496407RCV003225023RCV000018884RCV000415259RCV000631472RCV001198512
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
 rs_66490707

1 SubmittersRCV000018887RCV000018888
NM_000088.4(COL1A1):c.3040C>T (p.Arg1014Cys) SNV
Germline		 Chr17:50188908 Pathogenic Osteogenesis imperfecta type I
Condition: not provided
Infantile cortical hyperostosis
7 conditions		 Criteria Provided
Multiple Submitters
No Conflicts
 CA341441 rs_72653170

6 SubmittersRCV000685879RCV000420639RCV000018889RCV000763407
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 SubmittersRCV004018642RCV000018891
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
Condition: not provided
Osteogenesis imperfecta		 Criteria Provided
Multiple Submitters
No Conflicts
 CA129381 rs_387906960

5 SubmittersRCV000023609RCV001852024RCV002281717
NM_000942.5(PPIB):c.313G>A (p.Gly105Arg) SNV
Germline		 Chr15:64160134 Pathogenic/Likely pathogenic Osteogenesis imperfecta type 9
Condition: not provided
Osteogenesis imperfecta		 Criteria Provided
Multiple Submitters
No Conflicts
 CA210932 rs_137853866

4 SubmittersRCV000202406RCV000024538RCV003114203
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 SubmittersRCV000022716RCV000024545
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 SubmittersRCV000022718RCV000024547
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
Osteogenesis imperfecta type I
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Ehlers-Danlos syndrome
Cardiovascular phenotype
COL1A1-related disorder		 Criteria Provided
Conflicting Classifications
 CA260267 rs_139955975

12 SubmittersRCV000029552RCV000262664RCV000320157RCV000367913RCV000560142RCV000521409RCV000599940RCV002276573RCV002399337RCV004737164
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 SubmittersRCV000029553RCV001043307
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 SubmittersRCV000029555RCV000688895RCV002381264
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

8 SubmittersRCV000755939RCV000989947RCV002399338RCV003323365
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		 Criteria Provided
Conflicting Classifications
 CA260282 rs_193922142

5 SubmittersRCV000029559RCV000872415RCV001125671RCV001125670RCV001703422RCV002251930
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 SubmittersRCV000029561RCV000585102RCV001087782RCV002408480RCV004562218
NM_000088.4(COL1A1):c.2062C>T (p.Gln688Ter) SNV
Germline		 Chr17:50191853 Pathogenic/Likely pathogenic Osteogenesis imperfecta
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA260287 rs_193922144

3 SubmittersRCV000029562RCV001575593
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 SubmittersRCV000029563RCV000403934
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 SubmittersRCV000029565RCV002513241
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 SubmittersRCV000029569RCV001247065RCV003137543RCV004018683
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

9 SubmittersRCV000029570RCV000177893RCV000300080RCV000368843RCV000527836RCV001703423RCV002276574RCV002426520
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
Osteogenesis imperfecta
Ehlers-Danlos syndrome, arthrochalasia type
Condition: not provided
Ehlers-Danlos syndrome
Cardiovascular phenotype
Infantile cortical hyperostosis		 Criteria Provided
Conflicting Classifications
 CA260305 rs_193922153

8 SubmittersRCV000537025RCV000607797RCV000608881RCV000680480RCV001125486RCV001125488RCV001535421RCV002276575RCV002433474RCV001125487
NM_000088.4(COL1A1):c.3076C>T (p.Arg1026Ter) SNV
Germline		 Chr17:50188765 Pathogenic Osteogenesis imperfecta
Condition: not provided
Osteogenesis imperfecta type I
Abnormality of the skeletal system
8 conditions
Osteogenesis imperfecta
Infantile cortical hyperostosis
Ehlers-Danlos syndrome, arthrochalasia type
COL1A1-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA260309 rs_72653173

12 SubmittersRCV000029575RCV000498745RCV000551341RCV001814012RCV002504826RCV001535575RCV004737165
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.4006-9C>T SNV
Germline		 Chr17:50186029 Conflicting classifications of pathogenicity Osteogenesis imperfecta
Osteogenesis imperfecta type I		 Criteria Provided
Conflicting Classifications
 CA260316 rs_193922156

2 SubmittersRCV000029578RCV002054484
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 SubmittersRCV000029579RCV001852590
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 SubmittersRCV000029583RCV000798967
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 SubmittersRCV000029584RCV001852591
NM_000089.4(COL1A2):c.1148C>A (p.Pro383His) SNV
Germline		 Chr7:94410478 Conflicting classifications of pathogenicity Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
not specified
Condition: not provided
Cardiovascular phenotype		 Criteria Provided
Conflicting Classifications
 CA260334 rs_193922159

4 SubmittersRCV002228061RCV001824577RCV001770043RCV002453270
NM_000089.4(COL1A2):c.1295G>A (p.Arg432Gln) SNV
Germline		 Chr7:94411099 Conflicting classifications of pathogenicity not specified
Condition: not provided
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, cardiac valvular type
Ehlers-danlos syndrome, arthrochalasia type, 2
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
Cardiovascular phenotype		 Criteria Provided
Conflicting Classifications
 CA260337 rs_139446305

6 SubmittersRCV000029590RCV000412879RCV001249446RCV002228062RCV004609296
NM_000089.4(COL1A2):c.1350+11A>T SNV
Germline		 Chr7:94411165 Conflicting classifications of pathogenicity Osteogenesis imperfecta
not specified
Ehlers-danlos syndrome, arthrochalasia type, 2
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA260340 rs_193922160

6 SubmittersRCV000029591RCV000616881RCV001160979RCV002054486RCV002512054
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 SubmittersRCV000029595RCV001781322RCV002513242
NM_000089.4(COL1A2):c.2781+13C>G SNV
Germline		 Chr7:94425237 Conflicting classifications of pathogenicity Osteogenesis imperfecta
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1		 Criteria Provided
Conflicting Classifications
 CA260357 rs_193922163

2 SubmittersRCV000029598RCV003764637
NM_000089.4(COL1A2):c.2782-19T>G SNV
Germline		 Chr7:94425591 Conflicting classifications of pathogenicity Osteogenesis imperfecta
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1		 Criteria Provided
Conflicting Classifications
 CA260358 rs_193922164

2 SubmittersRCV000029599RCV002513243
NM_000089.4(COL1A2):c.2827G>A (p.Gly943Arg) SNV
Germline		 Chr7:94425655 Conflicting classifications of pathogenicity Osteogenesis imperfecta
Condition: not provided
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
Cardiovascular phenotype		 Criteria Provided
Conflicting Classifications
 CA260359 rs_193922165

4 SubmittersRCV000029600RCV001843944RCV001852592RCV002433475
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 SubmittersRCV000029605RCV002513244
NM_000089.4(COL1A2):c.486+15A>G SNV
Germline		 Chr7:94405267 Conflicting classifications of pathogenicity Osteogenesis imperfecta
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1		 Criteria Provided
Conflicting Classifications
 CA260379 rs_193922171

2 SubmittersRCV000029608RCV002054487
NM_000089.4(COL1A2):c.639+19A>T SNV
Germline		 Chr7:94407910 Conflicting classifications of pathogenicity Osteogenesis imperfecta
not specified
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1		 Criteria Provided
Conflicting Classifications
 CA260381 rs_183516726

3 SubmittersRCV000029610RCV000605746RCV002054488
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 SubmittersRCV000029611RCV003764639
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
Ehlers-danlos syndrome, arthrochalasia type, 2
Osteogenesis imperfecta, perinatal lethal
COL1A2-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA260386 rs_72656387

12 SubmittersRCV000029613RCV000517418RCV002288521RCV002228065RCV002255121RCV003989302RCV003992162RCV004742233
NM_000089.4(COL1A2):c.945C>T (p.Pro315=) SNV
Germline		 Chr7:94409731 Conflicting classifications of pathogenicity Osteogenesis imperfecta
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I
Condition: not provided
Ehlers-Danlos syndrome
Cardiovascular phenotype
COL1A2-related disorder		 Criteria Provided
Conflicting Classifications
 CA260392 rs_147058179

7 SubmittersRCV000029615RCV002054489RCV001575964RCV002276581RCV002371784RCV003914866
NM_002335.4(LRP5):c.4000+9C>T SNV
Germline		 Chr11:68433847 Conflicting classifications of pathogenicity Postmenopausal osteoporosis
not specified
Condition: not provided
Osteogenesis imperfecta
Increased bone mineral density		 Criteria Provided
Conflicting Classifications
 CA201380 rs_148685646

11 SubmittersRCV000030153RCV000175300RCV000949971RCV002276589RCV002276590
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

5 SubmittersRCV000030847RCV000059794RCV001814013RCV004689429
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		 Criteria Provided
Multiple Submitters
No Conflicts
 CA130860 rs_397514674

4 SubmittersRCV000034360RCV003137556RCV003556108RCV004579534
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 Osteogenesis imperfecta type 15
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Multiple Submitters
No Conflicts
 CA143725 rs_387907356

4 SubmittersRCV000043495RCV000489304RCV001267401
NM_005430.4(WNT1):c.1063G>T (p.Val355Phe) SNV
Germline		 Chr12:48981590 Conflicting classifications of pathogenicity Osteogenesis imperfecta type 15
Keratoconus		 No Assertion Criteria Provided
 CA143728 rs_387907358

2 SubmittersRCV000043497RCV000678662
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
Autosomal dominant polycystic kidney disease
Osteogenesis imperfecta
LRP5-related disorder		 Criteria Provided
Conflicting Classifications
 CA210921 rs_61889560

17 SubmittersRCV000162089RCV000174732RCV000765011RCV000767146RCV001260288RCV001844811RCV002277317RCV004724952
NM_002335.4(LRP5):c.1360G>A (p.Val454Met) SNV
Germline		 Chr11:68386660 Conflicting classifications of pathogenicity Polycystic liver disease 1
Osteogenesis imperfecta
Retinal dystrophy
Polycystic liver disease 4 with or without kidney cysts
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA210927 rs_373910016

5 SubmittersRCV000162092RCV002277318RCV004815255RCV000584798RCV002515121
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

7 SubmittersRCV000162330RCV000351373RCV004757968
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 SubmittersRCV000170456RCV003556216
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

5 SubmittersRCV000171257RCV000989848RCV003917583
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

2 SubmittersRCV000173063RCV001852105
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 SubmittersRCV000174826RCV003517139
NM_022356.4(P3H1):c.2152C>G (p.Pro718Ala) SNV
Germline		 Chr1:42746756 Conflicting classifications of pathogenicity Condition: not provided
P3H1-related disorder
Osteogenesis imperfecta type 8
Osteogenesis Imperfecta, Recessive		 Criteria Provided
Conflicting Classifications
 CA240595 rs_533729683

5 SubmittersRCV000724099RCV003917620RCV001078667RCV001097676
NM_001235.5(SERPINH1):c.580C>A (p.Arg194Ser) SNV
Germline		 Chr11:75566929 Conflicting classifications of pathogenicity Condition: not provided
not specified
Osteogenesis imperfecta type 10
Preterm premature rupture of membranes
Osteogenesis imperfecta type 10
SERPINH1-related disorder		 Criteria Provided
Conflicting Classifications
 CA241426 rs_141721173

8 SubmittersRCV000175693RCV003330534RCV000261310RCV000763776RCV004757153
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		 Criteria Provided
Conflicting Classifications
 CA241786 rs_140027863

9 SubmittersRCV000175935RCV000329828RCV002277369RCV003330535RCV003947491
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 SubmittersRCV000176911RCV002516717
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

5 SubmittersRCV000177129RCV000329748RCV000971578RCV002277389
NM_022356.4(P3H1):c.756C>T (p.Tyr252=) SNV
Germline		 Chr1:42759253 Conflicting classifications of pathogenicity Condition: not provided
Osteogenesis imperfecta type 8		 Criteria Provided
Conflicting Classifications
 CA243483 rs_770943260

3 SubmittersRCV000177330RCV002054089
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		 Criteria Provided
Conflicting Classifications
 CA202470 rs_66592376

19 SubmittersRCV000177437RCV000514224RCV000659353RCV000989945RCV001127681RCV001127682RCV001125582RCV002277393RCV002415762RCV003993859RCV004552992
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 SubmittersRCV000177856RCV001083073RCV002433775
NM_001235.5(SERPINH1):c.744C>T (p.Asp248=) SNV
Germline		 Chr11:75568961 Conflicting classifications of pathogenicity not specified
Osteogenesis imperfecta type 10
Osteogenesis imperfecta
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA202738 rs_61733248

7 SubmittersRCV000178158RCV000388996RCV002277398RCV000757756
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 SubmittersRCV000178336RCV001343505
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 SubmittersRCV000178451RCV003631093
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 SubmittersRCV000178478RCV000534294RCV002444712
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 SubmittersRCV000180228RCV002277429RCV004998386
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		 Criteria Provided
Multiple Submitters
No Conflicts
 CA204553 rs_137853943

9 SubmittersRCV000190575RCV000255275RCV002277445RCV003927754
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 No Assertion Criteria Provided
 CA205864 rs_137853943

1 SubmittersRCV000192794
NM_000089.4(COL1A2):c.2957C>T (p.Pro986Leu) SNV
Germline		 Chr7:94426011 Conflicting classifications of pathogenicity Osteogenesis imperfecta, perinatal lethal
Osteogenesis imperfecta type III
Osteogenesis imperfecta with normal sclerae, dominant form
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 SubmittersRCV000199225RCV001589081RCV002277551RCV002519576RCV004992076
NM_000089.4(COL1A2):c.3034G>A (p.Gly1012Ser) SNV
Germline		 Chr7:94426459 Pathogenic/Likely pathogenic Osteogenesis imperfecta, perinatal lethal
Osteogenesis imperfecta type III
Osteogenesis imperfecta with normal sclerae, dominant form
Osteogenesis imperfecta, perinatal lethal
Osteogenesis imperfecta with normal sclerae, dominant form
Osteogenesis imperfecta
6 conditions
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I
Condition: not provided
Ehlers-danlos syndrome, arthrochalasia type, 2		 Criteria Provided
Multiple Submitters
No Conflicts
 CA277502 rs_72659319

10 SubmittersRCV000197038RCV000664407RCV000490657RCV000722167RCV000763176RCV002229497RCV001269648RCV004813077
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 SubmittersRCV000202830RCV000726716RCV002277558RCV002515494
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
Osteoporosis
Osteogenesis imperfecta
SERPINF1-related disorder		 Criteria Provided
Conflicting Classifications
 CA248888 rs_140512665

11 SubmittersRCV000202689RCV000317548RCV000657868RCV001843423RCV002277560RCV003907757
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
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, arthrochalasia type
Infantile cortical hyperostosis
Ehlers-Danlos syndrome
Cardiovascular phenotype		 Criteria Provided
Conflicting Classifications
 CA249240 rs_72667032

19 SubmittersRCV000203035RCV000224220RCV000487429RCV000659348RCV001082142RCV001124960RCV001124961RCV002277557RCV002354572
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		 Criteria Provided
Conflicting Classifications
 CA6149957 rs_80358317

6 SubmittersRCV000490288RCV000486498RCV002277573RCV004742334
NM_000088.4(COL1A1):c.3766G>A (p.Ala1256Thr) SNV
Germline		 Chr17:50186688 Conflicting classifications of pathogenicity Osteogenesis imperfecta type I
Condition: not provided
Osteogenesis imperfecta
Infantile cortical hyperostosis
Ehlers-Danlos syndrome, arthrochalasia type
Ehlers-Danlos syndrome
Keratoconus
not specified
Cardiovascular phenotype
Hypertrophic cardiomyopathy
COL1A1-related disorder		 Criteria Provided
Conflicting Classifications
 CA8644359 rs_148216434

11 SubmittersRCV000490355RCV000877791RCV001127361RCV001126949RCV001127360RCV002277572RCV003324521RCV002298529RCV002347820RCV003319187RCV004737336
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

14 SubmittersRCV000224096RCV000602706RCV000659363RCV001089449RCV002277585RCV002354626RCV004547573
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

7 SubmittersRCV000249973RCV000844870RCV001573716
NM_022356.4(P3H1):c.392C>A (p.Ser131Ter) SNV
Germline		 Chr1:42766580 Pathogenic Condition: not provided
Osteogenesis imperfecta type 8		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10588294 rs_72659347

2 SubmittersRCV000254851RCV003495125
NM_000089.4(COL1A2):c.577G>A (p.Gly193Ser) SNV
Germline		 Chr7:94406286 Pathogenic Condition: not provided
Osteogenesis imperfecta type I
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
Postmenopausal osteoporosis
7 conditions
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2		 Criteria Provided
Multiple Submitters
No Conflicts
 CA4346716 rs_72656370

8 SubmittersRCV000255575RCV000490744RCV002229832RCV001526511RCV004796138RCV004596152
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 SubmittersRCV000255999RCV004786641
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		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10588664 rs_67507747

12 SubmittersRCV000255844RCV000293333RCV000722158RCV002278251RCV004725133
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

3 SubmittersRCV000254741RCV000818022
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 type III
Osteogenesis imperfecta type I
Osteogenesis imperfecta, perinatal lethal
Osteogenesis imperfecta with normal sclerae, dominant form		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10588666 rs_72645318

5 SubmittersRCV000255304RCV000631490RCV002278252RCV004796141
NM_001235.5(SERPINH1):c.710T>C (p.Met237Thr) SNV
Germline		 Chr11:75568818 Conflicting classifications of pathogenicity Osteogenesis imperfecta type 10
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10588848 rs_886039819

3 SubmittersRCV000256253RCV002521861
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 SubmittersRCV000395246RCV003600372
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 SubmittersRCV000263616RCV002519062
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
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
Ehlers-Danlos syndrome
Cardiovascular phenotype		 Criteria Provided
Conflicting Classifications
 CA4347649 rs_377278762

8 SubmittersRCV000723559RCV000764736RCV001162767RCV001162768RCV002229738RCV002278258RCV002446511
NM_000088.4(COL1A1):c.1005T>A (p.Gly335=) SNV
Germline		 Chr17:50195974 Conflicting classifications of pathogenicity not specified
Osteogenesis imperfecta type I
Infantile cortical hyperostosis
Ehlers-Danlos syndrome, arthrochalasia type
Osteogenesis imperfecta
Condition: not provided
Ehlers-Danlos syndrome
Cardiovascular phenotype
COL1A1-related disorder		 Criteria Provided
Conflicting Classifications
 CA8645432 rs_375914028

8 SubmittersRCV000377775RCV000631511RCV001124863RCV001124862RCV001124861RCV001711850RCV002278262RCV002411144RCV004547656
NM_000088.4(COL1A1):c.2434G>A (p.Gly812Ser) SNV
Germline		 Chr17:50190344 Pathogenic/Likely pathogenic Condition: not provided
COL1A1-related disorder
Osteogenesis imperfecta		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10603999 rs_886042260

3 SubmittersRCV000400501RCV004547659RCV003479089
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 SubmittersRCV000345547RCV001084404RCV003977737
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 SubmittersRCV000351342RCV003640884
NM_000089.4(COL1A2):c.2904C>T (p.Pro968=) SNV
Germline		 Chr7:94425818 Conflicting classifications of pathogenicity 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
 CA4347595 rs_142352627

9 SubmittersRCV000710782RCV001089359RCV001161215RCV001161216RCV002278275RCV002436101
NM_022356.4(P3H1):c.1322A>G (p.Asp441Gly) SNV
Germline		 Chr1:42754892 Conflicting classifications of pathogenicity not specified
Condition: not provided
Osteogenesis imperfecta type 8
Osteogenesis imperfecta
P3H1-related disorder		 Criteria Provided
Conflicting Classifications
 CA801884 rs_113593896

10 SubmittersRCV000402019RCV000487953RCV001079324RCV002278278RCV003982984
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		 Criteria Provided
Conflicting Classifications
 CA8644877 rs_144820445

7 SubmittersRCV000725475RCV001051624RCV004584379RCV004992154
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 SubmittersRCV000360614RCV001036322
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

6 SubmittersRCV000307161RCV000864424RCV001127852RCV001127854RCV001127853RCV001711856RCV002401987
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 SubmittersRCV000290568RCV000551070RCV001537842RCV002278291RCV003957435
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 SubmittersRCV000333394RCV000844865
NM_000088.4(COL1A1):c.3733A>T (p.Ile1245Phe) SNV
Germline		 Chr17:50186721 Conflicting classifications of pathogenicity Condition: not provided
Osteogenesis imperfecta
Ehlers-Danlos syndrome, arthrochalasia type
Infantile cortical hyperostosis
Osteogenesis imperfecta type I
Cardiovascular phenotype		 Criteria Provided
Conflicting Classifications
 CA8644370 rs_199514372

6 SubmittersRCV000319514RCV001127365RCV001127366RCV001127367RCV001296479RCV002348009
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
8 conditions		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10605745 rs_72651642

7 SubmittersRCV000358677RCV000490669RCV000497565RCV000763409RCV004796153
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 SubmittersRCV000263817RCV002278304RCV003909998
NM_000088.4(COL1A1):c.740C>T (p.Pro247Leu) SNV
Germline		 Chr17:50197190 Conflicting classifications of pathogenicity Condition: not provided
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome
Cardiovascular phenotype
not specified
COL1A1-related disorder		 Criteria Provided
Conflicting Classifications
 CA8645573 rs_199626372

8 SubmittersRCV000346609RCV000686753RCV002278310RCV002379141RCV004782344RCV004549603
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 SubmittersRCV000400906RCV001164621RCV001164622RCV002229750
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 SubmittersRCV000354246RCV000810347RCV002307480
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 SubmittersRCV000396949RCV000726182RCV002059242RCV004021256
NM_022356.4(P3H1):c.1529A>G (p.Asn510Ser) SNV
Germline		 Chr1:42752314 Conflicting classifications of pathogenicity not specified
Condition: not provided
Osteogenesis imperfecta type 8
P3H1-related disorder		 Criteria Provided
Conflicting Classifications
 CA801807 rs_149894086

5 SubmittersRCV000381836RCV000756458RCV002059256RCV003910018
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 SubmittersRCV000360246RCV000389606RCV002278319RCV003940071
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 SubmittersRCV000343777RCV000387403RCV003949952
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 SubmittersRCV000286092RCV000763734
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 SubmittersRCV000269043RCV002519352
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

4 SubmittersRCV000369412RCV003454835
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 SubmittersRCV000329070RCV002057849RCV002278536
NM_006371.5(CRTAP):c.282C>T (p.Pro94=) SNV
Germline		 Chr3:33114359 Conflicting classifications of pathogenicity Osteogenesis imperfecta type 7
CRTAP-related disorder
Osteogenesis imperfecta		 Criteria Provided
Conflicting Classifications
 CA2300239 rs_540998437

4 SubmittersRCV000391551RCV003932395RCV002278542
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 SubmittersRCV000285629RCV000418227
NM_000089.4(COL1A2):c.279+12T>C SNV
Germline		 Chr7:94401632 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
 CA4346598 rs_751199493

2 SubmittersRCV000283180RCV000340617RCV002058681
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
Condition: not provided
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1		 Criteria Provided
Conflicting Classifications
 CA4347121 rs_199732595

4 SubmittersRCV000309575RCV000364117RCV002402075RCV001764329RCV002058685
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		 Criteria Provided
Conflicting Classifications
 CA4347339 rs_189374343

6 SubmittersRCV000307937RCV000404554RCV000659378RCV001718783RCV002229911RCV002429325
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 SubmittersRCV000305191RCV000900084RCV002278625
NM_000089.4(COL1A2):c.81+8A>C SNV
Germline		 Chr7:94397766 Conflicting classifications of pathogenicity Ehlers-danlos syndrome, arthrochalasia type, 2
Connective tissue disorder
Osteogenesis imperfecta
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1		 Criteria Provided
Conflicting Classifications
 CA4346456 rs_765118884

3 SubmittersRCV000272171RCV000659365RCV000364665RCV003766071
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 SubmittersRCV000286145RCV000322286RCV003766073
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		 Criteria Provided
Conflicting Classifications
 CA4347500 rs_141088934

6 SubmittersRCV000263221RCV000299556RCV000680489RCV001697767RCV002229989RCV002278616
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		 Criteria Provided
Conflicting Classifications
 CA4347849 rs_761465504

3 SubmittersRCV000274353RCV000369007RCV001861311RCV004992186
NM_000089.4(COL1A2):c.3883T>C (p.Ser1295Pro) SNV
Germline		 Chr7:94429359 Conflicting classifications of pathogenicity Osteogenesis imperfecta
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
Cardiovascular phenotype
Ehlers-danlos syndrome, arthrochalasia type, 2		 Criteria Provided
Conflicting Classifications
 CA4347875 rs_757449082

3 SubmittersRCV000284047RCV001861312RCV004609369RCV000380433
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 SubmittersRCV000401558RCV002058717
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 SubmittersRCV000284363RCV000339365RCV003766072
NM_000089.4(COL1A2):c.2456G>A (p.Arg819His) SNV
Germline		 Chr7:94423009 Conflicting classifications of pathogenicity Ehlers-danlos syndrome, arthrochalasia type, 2
Cardiovascular phenotype
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
Condition: not provided
Osteogenesis imperfecta
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2		 Criteria Provided
Conflicting Classifications
 CA4347450 rs_773985005

7 SubmittersRCV000344148RCV002429326RCV002229912RCV003159117RCV000394670RCV001262348
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
not specified
Condition: not provided
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

10 SubmittersRCV000286436RCV000342187RCV000432079RCV000513852RCV000659381RCV002229990RCV002278617RCV004022060
NM_000089.4(COL1A2):c.1971+5G>A SNV
Germline		 Chr7:94417836 Conflicting classifications of pathogenicity Ehlers-danlos syndrome, arthrochalasia type, 2
Osteogenesis imperfecta
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10629666 rs_375027186

3 SubmittersRCV000350991RCV000386729RCV002229987RCV001613205
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 SubmittersRCV000366133RCV002058720RCV002278619
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 SubmittersRCV000387090RCV000969540RCV003922627
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 SubmittersRCV000352461RCV001551908RCV003922628
NM_006129.5(BMP1):c.2445C>T (p.Ala815=) SNV
Germline		 Chr8:22207386 Conflicting classifications of pathogenicity Condition: not provided
Osteogenesis imperfecta type 13		 Criteria Provided
Conflicting Classifications
 CA4665252 rs_200867122

2 SubmittersRCV002524559RCV000381539
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 SubmittersRCV000362174RCV002058719
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 SubmittersRCV000359789RCV002056239RCV002278386RCV002520765
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 SubmittersRCV000306124RCV001558810
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

2 SubmittersRCV000403806RCV001396318
NM_001235.5(SERPINH1):c.346C>A (p.Arg116Ser) SNV
Germline		 Chr11:75566695 Conflicting classifications of pathogenicity Osteogenesis Imperfecta, Recessive
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA6190786 rs_200265134

3 SubmittersRCV000344667RCV001171662
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 SubmittersRCV000357410RCV002056240
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 SubmittersRCV000282462RCV000316593RCV000374673RCV002510861
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

11 SubmittersRCV000291739RCV000346597RCV000399463RCV000444155RCV000527323RCV000659356RCV001087478RCV002278492
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
Ehlers-Danlos syndrome
Osteogenesis imperfecta type I		 Criteria Provided
Conflicting Classifications
 CA8644692 rs_756337302

4 SubmittersRCV000283301RCV000343018RCV000392300RCV001533845RCV002278493RCV001345234
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

4 SubmittersRCV000297504RCV000355103RCV000404386RCV000609843RCV001411271RCV002374553
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 SubmittersRCV000296866RCV000930750
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 SubmittersRCV000273659RCV002056559
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 SubmittersRCV000398020RCV001565046
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 SubmittersRCV000318099RCV002061218
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 SubmittersRCV000297418RCV003765878
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
Cardiovascular phenotype
Osteogenesis imperfecta type I		 Criteria Provided
Conflicting Classifications
 CA8644385 rs_745320719

3 SubmittersRCV000287980RCV000347596RCV000407725RCV003168478RCV002522988
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		 Criteria Provided
Conflicting Classifications
 CA8644438 rs_370865189

4 SubmittersRCV000304006RCV000354143RCV000404536RCV000543436RCV001718678
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
Condition: not provided
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome		 Criteria Provided
Conflicting Classifications
 CA8645452 rs_368316440

5 SubmittersRCV000275662RCV000333042RCV000389869RCV000730396RCV000841032RCV001080239RCV002278496
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
Cardiovascular phenotype
Ehlers-Danlos syndrome		 Criteria Provided
Conflicting Classifications
 CA8645632 rs_201136122

7 SubmittersRCV000298870RCV000355982RCV000392198RCV000726816RCV001079759RCV002365387RCV002278497
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
Cardiovascular phenotype
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA8645681 rs_748856187

4 SubmittersRCV000276290RCV000311677RCV000368586RCV000542211RCV002348068RCV001555722
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 SubmittersRCV000278484RCV000323135RCV000380061RCV002522989
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 SubmittersRCV000302289RCV000365246RCV000392860
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 SubmittersRCV000275737RCV002056564
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 SubmittersRCV000261749RCV000319203RCV000377245RCV001848666
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 SubmittersRCV000270815RCV000315320RCV000369990RCV002510862
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		 Criteria Provided
Conflicting Classifications
 CA8644169 rs_138557594

3 SubmittersRCV000313055RCV000338677RCV000407503RCV000798385RCV001590959
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 SubmittersRCV000259210RCV000319126RCV000355446RCV000521091RCV000695671RCV000765369RCV002323528RCV002278491RCV004737438
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

6 SubmittersRCV000268773RCV000315437RCV000363370RCV000438177RCV001087908RCV002278494RCV002446584RCV004549711
NM_021939.4(FKBP10):c.520G>A (p.Gly174Ser) SNV
Germline		 Chr17:41818217 Conflicting classifications of pathogenicity Osteogenesis imperfecta type 11
Bruck syndrome 1
Inborn genetic diseases
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA8566264 rs_140950528

5 SubmittersRCV000352068RCV001329235RCV004021702RCV002522960
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 SubmittersRCV000381080RCV002056598
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 SubmittersRCV000301017RCV000942336
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 SubmittersRCV000337131RCV003765877
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 SubmittersRCV000301902RCV000340545RCV000402935RCV003409509
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 SubmittersRCV000279151RCV000342367RCV000373598
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 SubmittersRCV000292780RCV000351084RCV000387080RCV000827217RCV002056611RCV004782357
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		 Criteria Provided
Conflicting Classifications
 CA8644548 rs_575285203

4 SubmittersRCV000274658RCV000329876RCV000389062RCV000765370RCV000828389RCV001084727
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 SubmittersRCV000285300RCV000342628RCV000392202RCV000710774RCV002521115
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 SubmittersRCV000271447RCV000333833RCV000362772RCV000497393RCV001514913RCV002252095RCV002323529RCV004549712
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 SubmittersRCV000414693RCV001861415
NM_000089.4(COL1A2):c.2531G>C (p.Gly844Ala) SNV
Germline		 Chr7:94423084 Likely pathogenic Condition: not provided
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16042607 rs_928361235

2 SubmittersRCV000414112RCV002230748
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
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
Ehlers-Danlos syndrome
Cardiovascular phenotype		 Criteria Provided
Conflicting Classifications
 CA4347868 rs_144797861

9 SubmittersRCV000413044RCV000585259RCV000764737RCV001164957RCV001164958RCV002230749RCV002278645RCV002356509
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

4 SubmittersRCV000413747RCV000490653
NM_000088.4(COL1A1):c.804+1G>C SNV
Germline		 Chr17:50197009 Pathogenic Increased susceptibility to fractures
Osteopenia
Blue sclerae
Osteogenesis imperfecta with normal sclerae, dominant form
Osteogenesis imperfecta type I		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16043534 rs_1057518930

2 SubmittersRCV000415384RCV001198517RCV003517190
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 SubmittersRCV000435769RCV002278652RCV003950341
NM_000478.6(ALPL):c.227A>G (p.Gln76Arg) SNV
Germline		 Chr1:21561142 Pathogenic/Likely pathogenic Condition: not provided
Osteogenesis imperfecta
Adult hypophosphatasia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16603529 rs_1057521085

4 SubmittersRCV000418683RCV002278676RCV004567908
NM_022356.4(P3H1):c.1473+5G>T SNV
Germline		 Chr1:42752532 Conflicting classifications of pathogenicity not specified
Condition: not provided
Osteogenesis imperfecta type 8
Osteogenesis Imperfecta, Recessive		 Criteria Provided
Conflicting Classifications
 CA801839 rs_114044880

4 SubmittersRCV000423443RCV000766765RCV001087130RCV001097774
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 SubmittersRCV000424568RCV000543025RCV001099569RCV002278661
NM_022356.4(P3H1):c.1026C>T (p.Ala342=) SNV
Germline		 Chr1:42757837 Conflicting classifications of pathogenicity not specified
Osteogenesis imperfecta
Osteogenesis imperfecta type 8
Osteogenesis Imperfecta, Recessive		 Criteria Provided
Conflicting Classifications
 CA801999 rs_61100157

5 SubmittersRCV000440114RCV002278665RCV001001470RCV001101549
NM_022356.4(P3H1):c.139G>T (p.Ala47Ser) SNV
Germline		 Chr1:42766833 Conflicting classifications of pathogenicity not specified
Osteogenesis imperfecta type 8
Osteogenesis Imperfecta, Recessive
Osteogenesis imperfecta		 Criteria Provided
Conflicting Classifications
 CA802228 rs_55716016

5 SubmittersRCV000432456RCV000551291RCV001097863RCV002278659
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 SubmittersRCV000423335RCV001099662
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
Osteogenesis Imperfecta, Recessive		 Criteria Provided
Conflicting Classifications
 CA801693 rs_34809608

5 SubmittersRCV000442874RCV001001467RCV002278668RCV001099457
NM_022356.4(P3H1):c.1569+3A>G SNV
Germline		 Chr1:42752271 Conflicting classifications of pathogenicity not specified
Osteogenesis imperfecta type 8
Osteogenesis Imperfecta, Recessive
Osteogenesis imperfecta		 Criteria Provided
Conflicting Classifications
 CA801796 rs_76871760

5 SubmittersRCV000433949RCV001001468RCV001095992RCV002278667
NM_022356.4(P3H1):c.1045G>A (p.Gly349Arg) SNV
Germline		 Chr1:42757818 Conflicting classifications of pathogenicity not specified
Osteogenesis Imperfecta, Recessive
Osteogenesis imperfecta type 8		 Criteria Provided
Conflicting Classifications
 CA801996 rs_6700677

5 SubmittersRCV000443398RCV001101548RCV000532565
NM_022356.4(P3H1):c.1647G>A (p.Met549Ile) SNV
Germline		 Chr1:42750259 Conflicting classifications of pathogenicity not specified
Osteogenesis Imperfecta, Recessive
Osteogenesis imperfecta type 8		 Criteria Provided
Conflicting Classifications
 CA801749 rs_11581921

3 SubmittersRCV000441888RCV001095987RCV001095988
NM_022356.4(P3H1):c.1284C>T (p.Ile428=) SNV
Germline		 Chr1:42754930 Conflicting classifications of pathogenicity not specified
Osteogenesis imperfecta type 8
Osteogenesis Imperfecta, Recessive
Osteogenesis imperfecta		 Criteria Provided
Conflicting Classifications
 CA801893 rs_61746642

5 SubmittersRCV000422896RCV001001469RCV001099567RCV002278666
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
Osteogenesis imperfecta
Ehlers-danlos syndrome, arthrochalasia type, 2
Cardiovascular phenotype
Ehlers-Danlos syndrome		 Criteria Provided
Conflicting Classifications
 CA4346618 rs_189557655

12 SubmittersRCV000440701RCV000659368RCV000710783RCV001080558RCV001159491RCV001159492RCV002446665RCV002278662
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 SubmittersRCV000430596RCV002230081
NM_000089.4(COL1A2):c.2853T>C (p.Pro951=) SNV
Germline		 Chr7:94425767 Conflicting classifications of pathogenicity Ehlers-danlos syndrome, arthrochalasia type, 2
Osteogenesis imperfecta
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
COL1A2-related disorder
Condition: not provided
Cardiovascular phenotype		 Criteria Provided
Conflicting Classifications
 CA4347584 rs_148362963

6 SubmittersRCV001161210RCV001161209RCV002230076RCV003959995RCV001712304RCV002436346
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		 Criteria Provided
Conflicting Classifications
 CA8644306 rs_147104425

4 SubmittersRCV000426862RCV002056678RCV004992218
NM_000088.4(COL1A1):c.3237C>A (p.Gly1079=) SNV
Germline		 Chr17:50188120 Conflicting classifications of pathogenicity Connective tissue disorder
Condition: not provided
Ehlers-Danlos syndrome
Cardiovascular phenotype
Osteogenesis imperfecta type I
not specified		 Criteria Provided
Conflicting Classifications
 CA8644516 rs_374853330

6 SubmittersRCV000659357RCV001698284RCV002279205RCV002446732RCV001471006RCV004800408
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		 Criteria Provided
Conflicting Classifications
 CA8644629 rs_141117382

4 SubmittersRCV000429625RCV000631461RCV002436327
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 SubmittersRCV000435717RCV001865338RCV004022348
NM_000088.4(COL1A1):c.1249C>T (p.Pro417Ser) SNV
Germline		 Chr17:50195282 Conflicting classifications of pathogenicity not specified
Infantile cortical hyperostosis
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, arthrochalasia type
Osteogenesis imperfecta
Condition: not provided
Cardiovascular phenotype
Ehlers-Danlos syndrome		 Criteria Provided
Conflicting Classifications
 CA8645334 rs_72648327

6 SubmittersRCV000434641RCV001125757RCV000540512RCV001125756RCV001127851RCV000766720RCV004609378RCV002279198
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 SubmittersRCV000430536RCV001126857RCV001126859RCV001126858RCV002521553
NM_000088.4(COL1A1):c.1375C>A (p.Pro459Thr) SNV
Germline		 Chr17:50194807 Conflicting classifications of pathogenicity Condition: not provided
7 conditions
Osteogenesis imperfecta type I		 Criteria Provided
Conflicting Classifications
 CA8645265 rs_751299130

3 SubmittersRCV000422156RCV000765371RCV000631495
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 SubmittersRCV000442408RCV002525486
NM_000088.4(COL1A1):c.2181G>A (p.Gln727=) SNV
Germline		 Chr17:50191437 Conflicting classifications of pathogenicity Condition: not provided
Osteogenesis imperfecta type I
Cardiovascular phenotype		 Criteria Provided
Conflicting Classifications
 CA8644908 rs_777571745

3 SubmittersRCV001704516RCV000706949RCV002429435
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 SubmittersRCV000423444RCV002063629RCV004567925
NM_000089.4(COL1A2):c.739G>T (p.Gly247Cys) SNV
Germline		 Chr7:94408770 Pathogenic/Likely pathogenic Condition: not provided
Osteogenesis imperfecta
COL1A2-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16618573 rs_1064794058

3 SubmittersRCV000478737RCV001260277RCV004545772
NM_000089.4(COL1A2):c.1054G>A (p.Gly352Ser) SNV
Germline		 Chr7:94410260 Pathogenic/Likely pathogenic Condition: not provided
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16618574 rs_1064796419

2 SubmittersRCV000486920RCV003766718
NM_000089.4(COL1A2):c.2314G>A (p.Gly772Ser) SNV
Germline		 Chr7:94421027 Pathogenic/Likely pathogenic Condition: not provided
Osteogenesis imperfecta
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I
Osteogenesis imperfecta with normal sclerae, dominant form
Ehlers-danlos syndrome, arthrochalasia type, 2		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16618576 rs_72658185

9 SubmittersRCV000481739RCV002279242RCV002230922RCV002244949RCV003988847
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		 Criteria Provided
Conflicting Classifications
 CA8644546 rs_72654799

5 SubmittersRCV000485287RCV000794277RCV001270299RCV002323823
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		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16620475 rs_67771061

5 SubmittersRCV000478094RCV002279243RCV003333748
NM_000088.4(COL1A1):c.1691G>A (p.Arg564His) SNV
Germline		 Chr17:50194019 Conflicting classifications of pathogenicity Osteogenesis imperfecta type I
Osteogenesis imperfecta
Ehlers-Danlos syndrome, arthrochalasia type
Infantile cortical hyperostosis
Condition: not provided
Ehlers-Danlos syndrome
Cardiovascular phenotype
COL1A1-related disorder		 Criteria Provided
Conflicting Classifications
 CA8645135 rs_1800211

10 SubmittersRCV000659352RCV001125674RCV001125673RCV001125672RCV001508818RCV002279235RCV002413314RCV004737549
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

4 SubmittersRCV000488066RCV002056811RCV002404277RCV002279251
NM_000089.4(COL1A2):c.540+8C>T SNV
Germline		 Chr7:94405734 Conflicting classifications of pathogenicity Condition: not provided
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1		 Criteria Provided
Conflicting Classifications
 CA16621856 rs_1064797337

2 SubmittersRCV000487607RCV003766736
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

4 SubmittersRCV000490674RCV001270303RCV002446951RCV004701539
NM_000089.4(COL1A2):c.793G>C (p.Gly265Arg) SNV
Germline		 Chr7:94409322 Pathogenic Osteogenesis imperfecta type I
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1		 Criteria Provided
Single Submitter
 CA368220540 rs_1114167417

2 SubmittersRCV000490663RCV002527011
NM_000089.4(COL1A2):c.794G>A (p.Gly265Asp) SNV
Germline		 Chr7:94409323 Pathogenic Osteogenesis imperfecta with normal sclerae, dominant form
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1		 Criteria Provided
Single Submitter
 CA162919498 rs_72656386

2 SubmittersRCV000490709RCV001851298
NM_000089.4(COL1A2):c.856G>A (p.Gly286Ser) SNV
Germline		 Chr7:94409385 Pathogenic Osteogenesis imperfecta type I
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1		 Criteria Provided
Single Submitter
 CA368220655 rs_1114167418

2 SubmittersRCV000490758RCV003766738
NM_000089.4(COL1A2):c.874G>A (p.Gly292Ser) SNV
Germline		 Chr7:94409403 Pathogenic Osteogenesis imperfecta with normal sclerae, dominant form
Condition: not provided
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta, perinatal lethal		 Criteria Provided
Multiple Submitters
No Conflicts
 CA162919734 rs_906553840

5 SubmittersRCV000490666RCV002244956RCV002230967RCV002289658
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 type III
Osteogenesis imperfecta with normal sclerae, dominant form
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		 Criteria Provided
Multiple Submitters
No Conflicts
 CA162920380 rs_67865220

12 SubmittersRCV000490720RCV000987924RCV000993573RCV001250519RCV001553203RCV002230964RCV002279258RCV003987562RCV003989538RCV004535542
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 SubmittersRCV000490690RCV001575452RCV001778978RCV002279259RCV002230965RCV004742449
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
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta, perinatal lethal		 Criteria Provided
Multiple Submitters
No Conflicts
 CA162921230 rs_68132885

5 SubmittersRCV000490711RCV000598859RCV002227169RCV003766737RCV004777683
NM_000089.4(COL1A2):c.1406G>C (p.Gly469Ala) SNV
Germline		 Chr7:94412585 Likely pathogenic Osteogenesis imperfecta with normal sclerae, dominant form Criteria Provided
Single Submitter
 CA162925041 rs_72658119

2 SubmittersRCV000490679
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

8 SubmittersRCV000490730RCV000594712RCV002230966RCV001849383RCV003139688RCV003152709
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 SubmittersRCV000490755RCV002279260RCV002481546
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 SubmittersRCV000490660RCV000490726RCV002231121RCV003155210
NM_000089.4(COL1A2):c.2918G>T (p.Gly973Val) SNV
Unknown		 Chr7:94425832 Pathogenic Osteogenesis imperfecta type III No Assertion Criteria Provided
 CA162939988 rs_67609234

1 SubmittersRCV000490699
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		 No Assertion Criteria Provided
 CA162940630 rs_72659325

3 SubmittersRCV000490746RCV002264701RCV003155211
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 SubmittersRCV000490689RCV003517203
NM_000088.4(COL1A1):c.3897C>G (p.Cys1299Trp) SNV
Germline		 Chr17:50186425 Pathogenic Osteogenesis imperfecta with normal sclerae, dominant form
COL1A1-related disorder		 Criteria Provided
Single Submitter
 CA291542851 rs_34940368

2 SubmittersRCV000490717RCV004551603
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 SubmittersRCV000490692RCV000490761RCV002272256
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

11 SubmittersRCV000490739RCV000586484RCV000755941RCV001814161RCV002281097
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

9 SubmittersRCV000490696RCV000596247RCV001037391RCV001330770RCV004551602RCV004796194
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

3 SubmittersRCV000490672RCV002291645
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 SubmittersRCV000490735RCV004719835
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

7 SubmittersRCV000490749RCV001213033RCV001577310RCV003128405
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

6 SubmittersRCV000490757RCV000548232RCV001572316
NM_000088.4(COL1A1):c.2343+1G>A SNV
Unknown		 Chr17:50190816 Pathogenic Osteogenesis imperfecta type I
8 conditions		 Criteria Provided
Single Submitter
 CA400209743 rs_1114167378

2 SubmittersRCV000490722RCV002475958
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
Dentinogenesis imperfecta
Recurrent fractures
Osteogenesis imperfecta type I
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA291543986 rs_72651645

6 SubmittersRCV000490715RCV000584774RCV001245339RCV001584200
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
COL1A1-related disorder
Cardiovascular phenotype		 Criteria Provided
Multiple Submitters
No Conflicts
 CA291544536 rs_66555264

11 SubmittersRCV000490727RCV000599354RCV000763410RCV002221545RCV004551601RCV004992266
NM_000088.4(COL1A1):c.1792C>T (p.Arg598Ter) SNV
Germline		 Chr17:50193023 Pathogenic Osteogenesis imperfecta type I
Condition: not provided
Osteogenesis imperfecta
Osteogenesis imperfecta with normal sclerae, dominant form		 Criteria Provided
Multiple Submitters
No Conflicts
 CA8645100 rs_72651614

8 SubmittersRCV000490706RCV001555740RCV002279255RCV002283484
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

8 SubmittersRCV000490723RCV000763411RCV001527971RCV004737558
NM_000088.4(COL1A1):c.1243C>T (p.Arg415Ter) SNV
Germline		 Chr17:50195288 Conflicting classifications of pathogenicity 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
Conflicting Classifications
 CA291546646 rs_72648326

11 SubmittersRCV000490754RCV000516899RCV001262344RCV002475959RCV003313958RCV004760530RCV004796193RCV004722824
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 SubmittersRCV000490729RCV002527010
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

7 SubmittersRCV000490713RCV001542693RCV001584199RCV002279254RCV004596228RCV004737557
NM_000088.4(COL1A1):c.1057G>A (p.Gly353Ser) SNV
Germline		 Chr17:50195665 Pathogenic Osteogenesis imperfecta with normal sclerae, dominant form No Assertion Criteria Provided
 CA291546912 rs_66721653

1 SubmittersRCV000490671
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
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1
COL1A1-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA291547584 rs_72645321

12 SubmittersRCV000490740RCV000520145RCV002279257RCV002489188RCV004801922RCV004551605
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

7 SubmittersRCV000490652RCV001003534RCV001552353RCV002279256RCV004767298
NM_000088.4(COL1A1):c.589G>T (p.Gly197Cys) SNV
Germline		 Chr17:50198002 Pathogenic Osteogenesis imperfecta type I
Condition: not provided		 Criteria Provided
Single Submitter
 CA291548135 rs_8179178

2 SubmittersRCV000490693RCV001269743
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 SubmittersRCV000490656RCV001270300RCV002350082
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		 Criteria Provided
Conflicting Classifications
 CA801813 rs_139259804

6 SubmittersRCV000489750RCV000538652RCV001097772
NM_002615.7(SERPINF1):c.295C>T (p.Arg99Ter) SNV
Germline		 Chr17:1771040 Pathogenic Condition: not provided
Osteogenesis imperfecta		 Criteria Provided
Multiple Submitters
No Conflicts
 CA397584444 rs_1085307634

3 SubmittersRCV000489314RCV004782399
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 SubmittersRCV000526752RCV001712452RCV002455947RCV003488631RCV004551617
NM_000478.6(ALPL):c.283G>A (p.Val95Met) SNV
Germline		 Chr1:21561198 Conflicting classifications of pathogenicity Low alkaline phosphatase
Condition: not provided
Childhood hypophosphatasia
Infantile hypophosphatasia
Adult hypophosphatasia
Childhood hypophosphatasia
Hypophosphatasia
Adult hypophosphatasia
Infantile hypophosphatasia
Osteogenesis imperfecta		 Criteria Provided
Conflicting Classifications
 CA666442 rs_139811782

8 SubmittersRCV000490714RCV001067182RCV001535923RCV001580504RCV001273158RCV003470594RCV004568606RCV002279265
NM_000089.4(COL1A2):c.875G>T (p.Gly292Val) SNV
Germline		 Chr7:94409404 Pathogenic Osteogenesis imperfecta type I
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1		 Criteria Provided
Single Submitter
 CA368220688 rs_1131692167

2 SubmittersRCV000495171RCV003766785
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 SubmittersRCV000495593RCV004722835
NM_000088.4(COL1A1):c.4328C>T (p.Ala1443Val) SNV
Germline		 Chr17:50185569 Pathogenic/Likely pathogenic Osteogenesis imperfecta type I
COL1A1-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA400190313 rs_1131692326

4 SubmittersRCV000496049RCV004737564
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 SubmittersRCV000496233RCV000520103
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
Ehlers-danlos syndrome, arthrochalasia type, 2
Osteogenesis imperfecta
Cardiovascular phenotype
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
not specified		 Criteria Provided
Conflicting Classifications
 CA4347447 rs_145355907

12 SubmittersRCV000497839RCV000680488RCV000791269RCV001164726RCV001164727RCV002446967RCV002231166RCV003114623
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 SubmittersRCV000497837RCV002527161
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 SubmittersRCV000497329RCV000631498RCV002279279RCV004992283
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		 Criteria Provided
Multiple Submitters
No Conflicts
 CA162918982 rs_67525025

4 SubmittersRCV000507846RCV001542469RCV002231188
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 SubmittersRCV000506973RCV000766891RCV000999850RCV002279286RCV003935325
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

3 SubmittersRCV000506069RCV001113293
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 SubmittersRCV000518754RCV002231000
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 SubmittersRCV000517302RCV003766918
NM_000088.4(COL1A1):c.2362G>A (p.Gly788Ser) SNV
Germline		 Chr17:50190578 Pathogenic Condition: not provided
7 conditions
Osteogenesis imperfecta type I
COL1A1-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA291543403 rs_67879854

6 SubmittersRCV000516519RCV000763408RCV000707194RCV004553128
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

2 SubmittersRCV000518629RCV003517215
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 SubmittersRCV000517817RCV002264705
NM_000088.4(COL1A1):c.299-15C>T SNV
Germline		 Chr17:50199605 Conflicting classifications of pathogenicity not specified
Infantile cortical hyperostosis
Ehlers-Danlos syndrome, arthrochalasia type
Osteogenesis imperfecta
Condition: not provided
Osteogenesis imperfecta type I		 Criteria Provided
Conflicting Classifications
 CA8645765 rs_199523510

6 SubmittersRCV000516192RCV001125940RCV001125941RCV001125942RCV003419892RCV002060235
NM_000089.4(COL1A2):c.432+1G>A SNV
Germline		 Chr7:94404893 Pathogenic/Likely pathogenic Condition: not provided
Inborn genetic diseases
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I		 Criteria Provided
Multiple Submitters
No Conflicts
 CA368219747 rs_1554395431

3 SubmittersRCV000521677RCV000624372RCV002231211
NM_000089.4(COL1A2):c.874G>C (p.Gly292Arg) SNV
Germline		 Chr7:94409403 Pathogenic Condition: not provided
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I		 Criteria Provided
Multiple Submitters
No Conflicts
 CA368220686 rs_906553840

2 SubmittersRCV000523423RCV001858003
NM_000089.4(COL1A2):c.1109G>T (p.Gly370Val) SNV
Germline		 Chr7:94410439 Pathogenic Condition: not provided
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I		 Criteria Provided
Multiple Submitters
No Conflicts
 CA368221175 rs_72658104

2 SubmittersRCV000522795RCV002525213
NM_000089.4(COL1A2):c.2387G>C (p.Gly796Ala) SNV
Germline		 Chr7:94421936 Pathogenic Condition: not provided
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I		 Criteria Provided
Multiple Submitters
No Conflicts
 CA162937261 rs_72658189

2 SubmittersRCV000519428RCV002231208
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		 Criteria Provided
Conflicting Classifications
 CA8644235 rs_146035171

5 SubmittersRCV000521165RCV000765368RCV000792484RCV002329239
NM_000088.4(COL1A1):c.1462G>A (p.Gly488Ser) SNV
Germline		 Chr17:50194626 Pathogenic/Likely pathogenic Condition: not provided
Osteogenesis imperfecta type I		 Criteria Provided
Multiple Submitters
No Conflicts
 CA400217541 rs_1328384458

2 SubmittersRCV000521607RCV000547846
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		 Criteria Provided
Multiple Submitters
No Conflicts
 CA291545471 rs_72648343

4 SubmittersRCV000523564RCV000803118RCV004767322
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 SubmittersRCV000519996RCV000631493
NM_000088.4(COL1A1):c.671G>T (p.Gly224Val) SNV
Germline		 Chr17:50197757 Pathogenic/Likely pathogenic Osteogenesis imperfecta type I
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA400224671 rs_1555574641

2 SubmittersRCV000532521RCV000522435
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

4 SubmittersRCV000541733RCV001095990RCV001546295RCV002279351
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 SubmittersRCV000535611RCV001097776RCV002279350RCV003925666
NM_022356.4(P3H1):c.978C>T (p.Thr326=) SNV
Germline		 Chr1:42757885 Conflicting classifications of pathogenicity not specified
Osteogenesis imperfecta type 8
Osteogenesis Imperfecta, Recessive
Osteogenesis imperfecta		 Criteria Provided
Conflicting Classifications
 CA802006 rs_74070022

5 SubmittersRCV000610741RCV001000260RCV001096106RCV002279356
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		 Criteria Provided
Conflicting Classifications
 CA801728 rs_371232413

3 SubmittersRCV000542489RCV001101451RCV001722499
NM_022356.4(P3H1):c.693G>A (p.Ala231=) SNV
Germline		 Chr1:42759316 Conflicting classifications of pathogenicity Osteogenesis imperfecta type 8
not specified
Osteogenesis Imperfecta, Recessive		 Criteria Provided
Conflicting Classifications
 CA802094 rs_149113630

3 SubmittersRCV000532202RCV000605499RCV001096110
NM_022356.4(P3H1):c.1930C>A (p.Gln644Lys) SNV
Germline		 Chr1:42747397 Conflicting classifications of pathogenicity Osteogenesis imperfecta type 8
Osteogenesis Imperfecta, Recessive
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA801637 rs_3738497

3 SubmittersRCV000547688RCV001099454RCV001539895
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		 Criteria Provided
Conflicting Classifications
 CA801513 rs_573577299

3 SubmittersRCV000524616RCV001424689RCV003330780
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

2 SubmittersRCV000559453RCV002279354
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 SubmittersRCV000610522RCV000999909RCV001096112RCV001573726RCV002279355
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		 Criteria Provided
Conflicting Classifications
 CA2300279 rs_779447329

3 SubmittersRCV000548675RCV002525305RCV004754464
NM_006371.5(CRTAP):c.654C>T (p.Asn218=) SNV
Germline		 Chr3:33124440 Conflicting classifications of pathogenicity Osteogenesis imperfecta type 7
not specified		 Criteria Provided
Conflicting Classifications
 CA2300353 rs_144486582

3 SubmittersRCV000526157RCV000607982
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 Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I		 Criteria Provided
Single Submitter
 CA368222011 rs_1554396680

1 SubmittersRCV002231229
NM_000089.4(COL1A2):c.1748G>C (p.Gly583Ala) SNV
Germline		 Chr7:94415254 Pathogenic Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I		 Criteria Provided
Single Submitter
 CA368222519 rs_1554396983

1 SubmittersRCV002231231
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 Condition: not provided
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I		 Criteria Provided
Conflicting Classifications
 CA4347701 rs_767399660

3 SubmittersRCV001560740RCV002231240
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 SubmittersRCV000991603RCV002231244
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 Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I		 Criteria Provided
Single Submitter
 CA368222009 rs_1554396679

1 SubmittersRCV002231010
NM_000089.4(COL1A2):c.2565+1G>A SNV
Germline		 Chr7:94423119 Pathogenic Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I		 Criteria Provided
Single Submitter
 CA162938093 rs_72658198

1 SubmittersRCV002231014
NM_000089.4(COL1A2):c.2719G>A (p.Gly907Ser) SNV
Germline		 Chr7:94425162 Pathogenic Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I		 Criteria Provided
Single Submitter
 CA368224473 rs_1554398251

1 SubmittersRCV002231237
NM_000089.4(COL1A2):c.3260G>T (p.Gly1087Val) SNV
Germline		 Chr7:94427288 Likely pathogenic Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I		 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
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I		 Criteria Provided
Single Submitter
 CA162908568 rs_72656356

2 SubmittersRCV000018774RCV002231016
NM_000089.4(COL1A2):c.334G>A (p.Gly112Ser) SNV
Germline		 Chr7:94404702 Likely pathogenic Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I		 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
Osteogenesis imperfecta
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I
Osteogenesis imperfecta type I		 Criteria Provided
Multiple Submitters
No Conflicts
 CA368220848 rs_72656392

4 SubmittersRCV001375860RCV001813787RCV002231026RCV004596238
NM_000089.4(COL1A2):c.982G>A (p.Gly328Ser) SNV
Germline		 Chr7:94409768 Pathogenic 6 conditions
Osteogenesis imperfecta with normal sclerae, dominant form
Condition: not provided
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, cardiac valvular type
Osteogenesis imperfecta		 Criteria Provided
Multiple Submitters
No Conflicts
 CA162920322 rs_66612022

6 SubmittersRCV000763174RCV001196500RCV001783030RCV002231248RCV001836645RCV003448980
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

8 SubmittersRCV001091391RCV001542470RCV001809476RCV002231005RCV002490955
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 SubmittersRCV000757107RCV002231006RCV003338649
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		 Criteria Provided
Multiple Submitters
No Conflicts
 CA162935440 rs_72658164

2 SubmittersRCV001255997RCV002231011
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
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I
Cardiovascular phenotype		 Criteria Provided
Conflicting Classifications
 CA4347337 rs_150670521

8 SubmittersRCV000680487RCV000827609RCV001162672RCV001162673RCV002279336RCV002231012RCV002420358
NM_000089.4(COL1A2):c.433-2A>G SNV
Germline		 Chr7:94405197 Likely pathogenic Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type		 Criteria Provided
Single Submitter
 CA368219755 rs_1554395471

1 SubmittersRCV000548758
NM_000089.4(COL1A2):c.784G>C (p.Gly262Arg) SNV
Germline		 Chr7:94408815 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
 CA368220513 rs_1554395970

2 SubmittersRCV002244998RCV002231024
NM_000089.4(COL1A2):c.920G>A (p.Gly307Asp) SNV
Germline		 Chr7:94409592 Pathogenic Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I		 Criteria Provided
Single Submitter
 CA162920026 rs_72656390

1 SubmittersRCV002231025
NM_000089.4(COL1A2):c.1503+1G>C SNV
Germline		 Chr7:94412683 Pathogenic/Likely pathogenic Condition: not provided
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I		 Criteria Provided
Multiple Submitters
No Conflicts
 CA368221978 rs_1554396615

2 SubmittersRCV001575496RCV002231228
NM_000089.4(COL1A2):c.1964G>A (p.Gly655Glu) SNV
Germline		 Chr7:94417824 Pathogenic Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I		 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 SubmittersRCV000552645RCV001545430
NM_000088.4(COL1A1):c.3893C>A (p.Thr1298Asn) SNV
Germline		 Chr17:50186429 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter
 CA400193618 rs_1555571755

1 SubmittersRCV000533081
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 SubmittersRCV000550757RCV001547583
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 SubmittersRCV000547028RCV004553178
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 SubmittersRCV000528176RCV004553177
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 SubmittersRCV000533873RCV001000789
NM_000088.4(COL1A1):c.1516-1G>A SNV
Germline		 Chr17:50194448 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter
 CA400217030 rs_72648352

1 SubmittersRCV000560259
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 SubmittersRCV000525857RCV003230531
NM_000088.4(COL1A1):c.4090C>T (p.Gln1364Ter) SNV
Germline		 Chr17:50185936 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter
 CA400192334 rs_1555571647

1 SubmittersRCV000558998
NM_000088.4(COL1A1):c.3849C>A (p.Asn1283Lys) SNV
Germline		 Chr17:50186473 Conflicting classifications of pathogenicity Osteogenesis imperfecta type I
Condition: not provided
Cardiovascular phenotype		 Criteria Provided
Conflicting Classifications
 CA8644328 rs_199911681

3 SubmittersRCV000532278RCV000839516RCV003159740
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 SubmittersRCV000538278RCV002279334
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		 Criteria Provided
Conflicting Classifications
 CA8644745 rs_779846520

4 SubmittersRCV000525106RCV002438296RCV002497061RCV003319367
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 SubmittersRCV000527395RCV003326451
NM_000088.4(COL1A1):c.3423A>C (p.Arg1141=) SNV
Germline		 Chr17:50187484 Conflicting classifications of pathogenicity Osteogenesis imperfecta type I
Osteogenesis imperfecta
Ehlers-Danlos syndrome, arthrochalasia type
Infantile cortical hyperostosis
Ehlers-Danlos syndrome
Cardiovascular phenotype		 Criteria Provided
Conflicting Classifications
 CA8644454 rs_148737409

4 SubmittersRCV000530956RCV001124398RCV001125395RCV001125394RCV002279333RCV002456053
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 Osteogenesis imperfecta type I
Condition: not provided
8 conditions		 Criteria Provided
Multiple Submitters
No Conflicts
 CA8645430 rs_66664580

4 SubmittersRCV000534961RCV001560527RCV004796230
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

4 SubmittersRCV000526144RCV001580124
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 SubmittersRCV000549872RCV004787844
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 SubmittersRCV000537927RCV001696985RCV002448622RCV003230530
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		 Criteria Provided
Multiple Submitters
No Conflicts
 CA291543234 rs_72653147

6 SubmittersRCV000542101RCV000578858RCV001535522RCV002279330
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 SubmittersRCV000533017RCV002279327RCV002289720
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		 Criteria Provided
Conflicting Classifications
 CA8645328 rs_149301001

9 SubmittersRCV000553010RCV001084966RCV001125754RCV001125753RCV001125755RCV002279326RCV002448621
NM_000088.4(COL1A1):c.1103G>C (p.Gly368Ala) SNV
Germline		 Chr17:50195619 Pathogenic/Likely pathogenic Osteogenesis imperfecta type I
Osteogenesis imperfecta		 Criteria Provided
Multiple Submitters
No Conflicts
 CA400219930 rs_1555574151

2 SubmittersRCV000538665RCV001260276
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

2 SubmittersRCV000534334RCV004525960
NM_000088.4(COL1A1):c.770G>A (p.Gly257Glu) SNV
Germline		 Chr17:50197044 Likely 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

3 SubmittersRCV000578505RCV000631486RCV003313966
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 SubmittersRCV000578718RCV000802325
NM_000088.4(COL1A1):c.3099+2T>A SNV
Germline		 Chr17:50188740 Likely pathogenic Recurrent fractures
Blue sclerae
Osteogenesis imperfecta type I		 Criteria Provided
Single Submitter
 CA400202950 rs_1555572315

2 SubmittersRCV000584802RCV004767422
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 SubmittersRCV000585423RCV001860110
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		 Criteria Provided
Multiple Submitters
No Conflicts
 CA666626 rs_781272386

7 SubmittersRCV000587658RCV000674432RCV001597180RCV002279370RCV003459459
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 Likely pathogenic Inborn genetic diseases
Osteogenesis imperfecta, perinatal lethal
Abnormality of the skeletal system
7 conditions		 Criteria Provided
Multiple Submitters
No Conflicts
 CA368220124 rs_1554395833

4 SubmittersRCV000623858RCV001542468RCV001836846RCV004796244
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 SubmittersRCV000597753RCV000876592RCV001097862
NM_000088.4(COL1A1):c.3100-6C>T SNV
Germline		 Chr17:50188643 Conflicting classifications of pathogenicity Condition: not provided
Osteogenesis imperfecta type I		 Criteria Provided
Conflicting Classifications
 CA8644562 rs_377123276

5 SubmittersRCV000598119RCV001084380
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		 Criteria Provided
Conflicting Classifications
 CA291543054 rs_866785621

3 SubmittersRCV000598221RCV002531008RCV004737859
NM_000088.4(COL1A1):c.3906C>T (p.Pro1302=) SNV
Germline		 Chr17:50186416 Conflicting classifications of pathogenicity Condition: not provided
Osteogenesis imperfecta type I		 Criteria Provided
Conflicting Classifications
 CA291542850 rs_188887858

2 SubmittersRCV000595947RCV002532391
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 SubmittersRCV000597522RCV001860172
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		 Criteria Provided
Conflicting Classifications
 CA8645764 rs_373041336

4 SubmittersRCV000593836RCV001444817RCV002279374
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 SubmittersRCV000598016RCV001215501
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

5 SubmittersRCV000597506RCV002232231RCV002456301
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 SubmittersRCV000597738RCV002279377
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 SubmittersRCV000597852RCV001439435RCV003302912
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 SubmittersRCV000710767RCV001081361RCV003160025
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 SubmittersRCV000597893RCV001473676RCV003380626
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 SubmittersRCV000597715RCV001062270RCV004796245
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 SubmittersRCV000598433RCV001854047RCV002438537RCV004553320
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 SubmittersRCV000596743RCV002232561
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 SubmittersRCV000591564RCV003517235
NM_000089.4(COL1A2):c.2079+8T>C SNV
Germline		 Chr7:94419559 Conflicting classifications of pathogenicity Condition: not provided
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1		 Criteria Provided
Conflicting Classifications
 CA4347291 rs_745913455

2 SubmittersRCV000595763RCV003767402
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 SubmittersRCV000598951RCV001260291RCV001860228
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

6 SubmittersRCV000615308RCV000631540RCV001262380RCV002232588RCV002368056RCV003962761
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 SubmittersRCV000606996RCV002232591RCV002420611
NM_000088.4(COL1A1):c.2167G>A (p.Ala723Thr) SNV
Germline		 Chr17:50191451 Conflicting classifications of pathogenicity Osteogenesis imperfecta type I
Infantile cortical hyperostosis
Osteogenesis imperfecta
Ehlers-Danlos syndrome, arthrochalasia type
Condition: not provided
Cardiovascular phenotype
COL1A1-related disorder		 Criteria Provided
Conflicting Classifications
 CA8644913 rs_150803124

5 SubmittersRCV000877735RCV001125579RCV001125581RCV001125580RCV001697902RCV002431790RCV004547731
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 SubmittersRCV001511573RCV001719020RCV002279424RCV004609455
NM_000088.4(COL1A1):c.1930-5T>C SNV
Germline		 Chr17:50192533 Conflicting classifications of pathogenicity Osteogenesis imperfecta type I
Condition: not provided
Cardiovascular phenotype		 Criteria Provided
Conflicting Classifications
 CA8645003 rs_762377921

4 SubmittersRCV001467964RCV001712640RCV002413728
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		 Criteria Provided
Conflicting Classifications
 CA8645023 rs_375695940

5 SubmittersRCV000603235RCV002066833RCV002279442RCV002413768RCV002498987
NM_000088.4(COL1A1):c.1461+13G>T SNV
Germline		 Chr17:50194708 Conflicting classifications of pathogenicity not specified
Infantile cortical hyperostosis
Osteogenesis imperfecta
Ehlers-Danlos syndrome, arthrochalasia type
Condition: not provided
Osteogenesis imperfecta type I		 Criteria Provided
Conflicting Classifications
 CA8645249 rs_371161009

7 SubmittersRCV000612179RCV001124764RCV001124765RCV001121994RCV001701056RCV002063266
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
Adult hypophosphatasia
Hypophosphatasia
Osteogenesis imperfecta		 Criteria Provided
Multiple Submitters
No Conflicts
 CA666527 rs_763159520

12 SubmittersRCV000623730RCV000674297RCV001046115RCV003465357RCV001730702RCV002279446
NM_000089.4(COL1A2):c.1557+3A>G SNV
Germline		 Chr7:94413139 Pathogenic Inborn genetic diseases
Osteogenesis imperfecta with normal sclerae, dominant form		 Criteria Provided
Single Submitter
 CA162925926 rs_72658127

2 SubmittersRCV000622570RCV001807644
NM_000089.4(COL1A2):c.1576G>A (p.Gly526Arg) SNV
Germline		 Chr7:94413708 Pathogenic/Likely pathogenic Inborn genetic diseases
Osteogenesis imperfecta, perinatal lethal
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA162926587 rs_72658129

6 SubmittersRCV000623717RCV001823152RCV002289909RCV002232602RCV003314628
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 SubmittersRCV000627343RCV001220819
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 SubmittersRCV000627360RCV003517255
NM_022356.4(P3H1):c.1501C>T (p.Arg501Trp) SNV
Germline		 Chr1:42752342 Conflicting classifications of pathogenicity Osteogenesis Imperfecta, Recessive
Osteogenesis imperfecta type 8
P3H1-related disorder
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA801815 rs_115108794

5 SubmittersRCV001097773RCV000645494RCV003905744RCV001672913
NM_022356.4(P3H1):c.1620C>T (p.Asn540=) SNV
Germline		 Chr1:42750286 Conflicting classifications of pathogenicity Osteogenesis Imperfecta, Recessive
Osteogenesis imperfecta type 8
P3H1-related disorder		 Criteria Provided
Conflicting Classifications
 CA801758 rs_140334418

3 SubmittersRCV001095991RCV000645492RCV003953154
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 SubmittersRCV000645496RCV001097864RCV001731837RCV002279466
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 SubmittersRCV000641678RCV002279463RCV003980243
NM_000089.4(COL1A2):c.298G>A (p.Gly100Ser) SNV
Germline		 Chr7:94404574 Pathogenic/Likely pathogenic Osteogenesis imperfecta type I
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
Condition: not provided
Ehlers-Danlos syndrome
COL1A2-related disorder
Cardiovascular phenotype		 Criteria Provided
Multiple Submitters
No Conflicts
 CA368219459 rs_1410254723

7 SubmittersRCV000845036RCV002233933RCV003238791RCV003323646RCV004527693RCV004992415
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		 Criteria Provided
Single Submitter
 CA162925217 rs_72658121

1 SubmittersRCV002233928
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 Likely pathogenic Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1		 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
Osteogenesis imperfecta
Ehlers-danlos syndrome, arthrochalasia type, 2
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
Cardiovascular phenotype		 Criteria Provided
Conflicting Classifications
 CA4346766 rs_771139732

4 SubmittersRCV000764735RCV001160862RCV001160861RCV002234411RCV002377355
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 Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
Condition: not provided
Osteogenesis imperfecta, perinatal lethal		 Criteria Provided
Multiple Submitters
No Conflicts
 CA162924592 rs_72658118

5 SubmittersRCV002234410RCV001597190RCV003313968
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 SubmittersRCV000631482RCV001555220
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

5 SubmittersRCV000631503RCV001584459RCV004547778RCV004992413
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 SubmittersRCV000631478RCV001128045RCV001128044RCV001128046RCV001591407RCV002431861
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 SubmittersRCV000631497RCV001796147
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
Single Submitter
 CA400220332 rs_1555574177

1 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		 Criteria Provided
Multiple Submitters
No Conflicts
 CA291548113 rs_72667029

3 SubmittersRCV000631480RCV001091446RCV003444610
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
Osteogenesis imperfecta
Infantile cortical hyperostosis
Ehlers-danlos syndrome, arthrochalasia type, 2
COL1A1-related disorder		 Criteria Provided
Conflicting Classifications
 CA8644586 rs_139593707

6 SubmittersRCV000631488RCV001566557RCV002279451RCV002279450RCV002448936RCV003330848RCV004737908
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

4 SubmittersRCV000631487RCV003139957RCV004547777
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		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_72651658

6 SubmittersRCV000657898RCV000690534RCV002279474RCV004796266
NM_000088.4(COL1A1):c.3251G>A (p.Arg1084His) SNV
Germline		 Chr17:50188106 Conflicting classifications of pathogenicity Condition: not provided
Osteogenesis imperfecta type I		 Criteria Provided
Conflicting Classifications
 rs_746341018

2 SubmittersRCV000658788RCV001855382
NM_000089.4(COL1A2):c.433-3T>G SNV
Germline		 Chr7:94405196 Likely pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter
 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
Ehlers-Danlos syndrome, cardiac valvular type
Ehlers-Danlos syndrome, arthrochalasia type
Osteogenesis imperfecta
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1		 Criteria Provided
Conflicting Classifications
 rs_370275593

4 SubmittersRCV000659373RCV000842274RCV001535468RCV002235526
NM_000089.4(COL1A2):c.1198-12A>G SNV
Germline		 Chr7:94410877 Conflicting classifications of pathogenicity Connective tissue disorder
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1		 Criteria Provided
Conflicting Classifications
 rs_1292046736

2 SubmittersRCV000659374RCV002536339
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		 Criteria Provided
Conflicting Classifications
 rs_769571473

4 SubmittersRCV000659360RCV000689162RCV001123293RCV001123294RCV001124397RCV001549827
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
 rs_1215940390

3 SubmittersRCV000659355RCV002534317RCV004993916
NM_000089.4(COL1A2):c.2027G>A (p.Gly676Asp) SNV
Germline		 Chr7:94419499 Pathogenic Dentinogenesis imperfecta
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1		 Criteria Provided
Single Submitter
 rs_66883877

2 SubmittersRCV000662309RCV001861725
NM_000478.6(ALPL):c.1171C>T (p.Arg391Cys) SNV
Germline		 Chr1:21575906 Pathogenic/Likely 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
 rs_371243939

10 SubmittersRCV000665189RCV000763303RCV001050932RCV001275110RCV002279480RCV003465439RCV004026080RCV004740395
NM_015884.4(MBTPS2):c.1376A>G (p.Asn459Ser) SNV
Germline		 ChrX:21882471 Pathogenic Osteogenesis imperfecta, type 19 No Assertion Criteria Provided
 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
 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
 rs_779809838

1 SubmittersRCV000677180
NM_001173467.3(SP7):c.946C>T (p.Arg316Cys) SNV
Germline		 Chr12:53328496 Pathogenic Osteogenesis imperfecta type 12 No Assertion Criteria Provided
 rs_1565789682

1 SubmittersRCV000678255
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
 rs_777265470

3 SubmittersRCV000680479RCV000959357RCV004993933
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
 rs_778733293

3 SubmittersRCV000680481RCV001508819RCV001247288
NM_022356.4(P3H1):c.1222A>T (p.Lys408Ter) SNV
Germline		 Chr1:42755166 Pathogenic Osteogenesis imperfecta type 8 Criteria Provided
Single Submitter
 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
 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
 rs_762525651

1 SubmittersRCV000686871
NM_000089.4(COL1A2):c.595-2A>G SNV
Germline		 Chr7:94407845 Pathogenic/Likely pathogenic Osteogenesis imperfecta
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_72656375

3 SubmittersRCV001526530RCV002233686RCV003442054
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
 rs_1554396271

1 SubmittersRCV002233226
NM_000089.4(COL1A2):c.2242G>A (p.Gly748Ser) SNV
Germline		 Chr7:94420595 Likely pathogenic Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1		 Criteria Provided
Single Submitter
 rs_1562905246

1 SubmittersRCV002233545
NM_000089.4(COL1A2):c.398G>T (p.Gly133Val) SNV
Germline		 Chr7:94404858 Likely pathogenic Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1		 Criteria Provided
Single Submitter
 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
 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
 rs_67543427

2 SubmittersRCV002233375RCV002477619
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
 rs_72658194

1 SubmittersRCV002232871
NM_000089.4(COL1A2):c.433-2A>C SNV
Germline		 Chr7:94405197 Pathogenic Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1		 Criteria Provided
Single Submitter
 rs_1554395471

1 SubmittersRCV002233416
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
 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
 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
 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
 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
 rs_1567756567

1 SubmittersRCV000697550
NM_000088.4(COL1A1):c.2127+2T>A SNV
Germline		 Chr17:50191786 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter
 rs_72651644

1 SubmittersRCV000695888
NM_000088.4(COL1A1):c.1237G>C (p.Gly413Arg) SNV
Germline		 Chr17:50195294 Likely pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter
 rs_1567760604

1 SubmittersRCV000687601
NM_000088.4(COL1A1):c.679G>A (p.Gly227Arg) SNV
Germline		 Chr17:50197749 Likely pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter
 rs_1567763007

1 SubmittersRCV000697699
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
 rs_111594467

2 SubmittersRCV000700462RCV002279492
NM_000088.4(COL1A1):c.2405G>A (p.Arg802His) SNV
Germline		 Chr17:50190373 Conflicting classifications of pathogenicity Osteogenesis imperfecta type I
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_556916354

2 SubmittersRCV000700301RCV001849066
NM_000088.4(COL1A1):c.2197C>T (p.Arg733Cys) SNV
Germline		 Chr17:50191421 Likely pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter
 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
 rs_1567759402

1 SubmittersRCV000704376
NM_000088.4(COL1A1):c.697-1G>C SNV
Germline		 Chr17:50197234 Pathogenic Osteogenesis imperfecta type I
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_67163049

2 SubmittersRCV000703698RCV001592900
NM_000088.4(COL1A1):c.697-1G>A SNV
Germline		 Chr17:50197234 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter
 rs_67163049

1 SubmittersRCV000705639
NM_000088.4(COL1A1):c.571G>A (p.Gly191Ser) SNV
Germline		 Chr17:50198178 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter
 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
 rs_1567764387

3 SubmittersRCV000690720RCV001540744RCV002279487
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
 rs_1567766329

2 SubmittersRCV000686962RCV001823161
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		 Criteria Provided
Conflicting Classifications
 rs_761895918

4 SubmittersRCV000702472RCV001771993RCV004026594
NM_000088.4(COL1A1):c.3994G>A (p.Asp1332Asn) SNV
Germline		 Chr17:50186328 Conflicting classifications of pathogenicity Osteogenesis imperfecta type I
8 conditions
Cardiovascular phenotype
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_754984293

4 SubmittersRCV000702037RCV002060881RCV002369933RCV004588143
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
 rs_72656326

3 SubmittersRCV000689406RCV001796185
NM_000088.4(COL1A1):c.3389G>A (p.Gly1130Asp) SNV
Germline		 Chr17:50187518 Likely pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter
 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		 Criteria Provided
Conflicting Classifications
 rs_776229611

3 SubmittersRCV000700335RCV003736891
NM_000088.4(COL1A1):c.802A>T (p.Arg268Ter) SNV
Germline		 Chr17:50197012 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter
 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
 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
 rs_550358395

6 SubmittersRCV000710511RCV001825412RCV002279495RCV002507242
NM_000089.4(COL1A2):c.389G>T (p.Gly130Val) SNV
Germline		 Chr7:94404849 Pathogenic Condition: not provided
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_72656360

2 SubmittersRCV000710787RCV001861953
NM_000089.4(COL1A2):c.2503G>A (p.Gly835Ser) SNV
Germline		 Chr7:94423056 Pathogenic Condition: not provided
Osteogenesis imperfecta		 Criteria Provided
Single Submitter
 rs_72658193

2 SubmittersRCV000710781RCV000722165
NM_000089.4(COL1A2):c.3304G>A (p.Gly1102Ser) SNV
Germline		 Chr7:94427663 Pathogenic Condition: not provided
Osteogenesis imperfecta, perinatal lethal		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_67768540

2 SubmittersRCV000710784RCV003388595
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
 rs_72648357

2 SubmittersRCV000710758RCV001229746
NM_000089.4(COL1A2):c.2657G>T (p.Gly886Val) SNV
Germline		 Chr7:94424427 Likely pathogenic Osteogenesis imperfecta No Assertion Criteria Provided
 rs_1562906570

1 SubmittersRCV000722168
NM_000089.4(COL1A2):c.2684G>A (p.Gly895Asp) SNV
Germline		 Chr7:94425127 Pathogenic Osteogenesis imperfecta No Assertion Criteria Provided
 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
 rs_1567753448

2 SubmittersRCV000722161RCV004820098
NM_000088.4(COL1A1):c.2164G>A (p.Gly722Ser) SNV
Germline		 Chr17:50191454 Pathogenic Osteogenesis imperfecta No Assertion Criteria Provided
 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
 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		 Criteria Provided
Conflicting Classifications
 rs_1391247648

4 SubmittersRCV000728334RCV001862142
NM_000089.4(COL1A2):c.3613C>T (p.Arg1205Trp) SNV
Germline		 Chr7:94428379 Conflicting classifications of pathogenicity Condition: not provided
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
Cardiovascular phenotype
COL1A2-related disorder		 Criteria Provided
Conflicting Classifications
 rs_150124840

6 SubmittersRCV000729778RCV002233736RCV002458340RCV003953307
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		 Criteria Provided
Conflicting Classifications
 rs_759665341

4 SubmittersRCV000731118RCV001078689RCV002279504RCV002442555
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
 rs_753888456

2 SubmittersRCV000733969RCV001494908
NM_000089.4(COL1A2):c.1216G>A (p.Gly406Ser) SNV
Germline		 Chr7:94410907 Pathogenic Osteogenesis imperfecta, perinatal lethal
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I		 Criteria Provided
Single Submitter
 rs_72658108

2 SubmittersRCV000735746RCV002535437
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
 rs_200576259

2 SubmittersRCV000755994RCV001519909
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		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_72656394

7 SubmittersRCV000755946RCV001374625RCV001543665RCV002252228RCV002233745
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
 rs_72659312

4 SubmittersRCV000755949RCV002233746
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		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1562907287

3 SubmittersRCV000755947RCV004586915
NM_021939.4(FKBP10):c.850G>A (p.Gly284Arg) SNV
Germline		 Chr17:41819332 Conflicting classifications of pathogenicity Osteogenesis imperfecta type 11
Condition: not provided
Osteogenesis imperfecta
not specified		 Criteria Provided
Conflicting Classifications
 rs_372214186

6 SubmittersRCV001128129RCV000756168RCV002279510RCV003994103
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
 rs_146701946

8 SubmittersRCV000756167RCV001122389RCV003965560
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
 rs_982770651

2 SubmittersRCV000757101RCV002536564
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
 rs_72656369

2 SubmittersRCV000762460RCV002533908
NM_000088.4(COL1A1):c.3055G>T (p.Gly1019Cys) SNV
Unknown		 Chr17:50188786 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter
 rs_1598288342

1 SubmittersRCV000853622
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
 rs_72659356

5 SubmittersRCV000778981RCV002487599
NM_022356.4(P3H1):c.874C>T (p.Arg292Ter) SNV
Germline		 Chr1:42758918 Conflicting classifications of pathogenicity Osteogenesis Imperfecta, Recessive
Osteogenesis imperfecta type 8		 Criteria Provided
Conflicting Classifications
 rs_773269078

2 SubmittersRCV000778236RCV001869131
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

3 SubmittersRCV000785184RCV001849093RCV002245667
NM_022356.4(P3H1):c.541C>T (p.Gln181Ter) SNV
Germline		 Chr1:42762400 Pathogenic Osteogenesis imperfecta Criteria Provided
Single Submitter
 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
 rs_762780039

3 SubmittersRCV000790420RCV003631162RCV004723173
NM_022356.4(P3H1):c.232C>T (p.Gln78Ter) SNV
Germline		 Chr1:42766740 Pathogenic Osteogenesis imperfecta type 8
Osteogenesis imperfecta		 Criteria Provided
Single Submitter
 rs_1330779100

2 SubmittersRCV000786860RCV004579563
NM_000088.4(COL1A1):c.77G>A (p.Gly26Asp) SNV
Germline		 Chr17:50201437 Conflicting classifications of pathogenicity Osteogenesis imperfecta type I
Condition: not provided
Ehlers-Danlos syndrome, arthrochalasia type
Osteogenesis imperfecta
Infantile cortical hyperostosis
Ehlers-Danlos syndrome
Cardiovascular phenotype
COL1A1-related disorder		 Criteria Provided
Conflicting Classifications
 rs_151171179

8 SubmittersRCV000786920RCV001091447RCV001122287RCV001122286RCV001122288RCV002279529RCV004027358RCV004738003
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
 rs_773819922

2 SubmittersRCV000788762RCV002535790
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
 rs_756846639

4 SubmittersRCV000788756RCV001370161RCV004994006
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		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1562906013

2 SubmittersRCV000791086RCV000791087RCV000791088RCV000790932RCV001268104
NM_022356.4(P3H1):c.1459C>T (p.Gln487Ter) SNV
Germline		 Chr1:42752551 Pathogenic Osteogenesis imperfecta type 8 Criteria Provided
Single Submitter
 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
 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
 rs_137853939

2 SubmittersRCV000815568RCV003155319
NM_000089.4(COL1A2):c.299G>T (p.Gly100Val) SNV
Germline		 Chr7:94404575 Likely pathogenic Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1		 Criteria Provided
Single Submitter
 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
 rs_1057517953

1 SubmittersRCV002235296
NM_000089.4(COL1A2):c.647G>A (p.Arg216His) SNV
Germline		 Chr7:94408190 Conflicting classifications of pathogenicity Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
Cardiovascular phenotype		 Criteria Provided
Conflicting Classifications
 rs_756743425

2 SubmittersRCV002235348RCV004609546
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
 rs_1584318303

1 SubmittersRCV002234750
NM_000089.4(COL1A2):c.1342G>C (p.Gly448Arg) SNV
Germline		 Chr7:94411146 Pathogenic/Likely pathogenic Osteogenesis imperfecta with normal sclerae, dominant form
Osteogenesis imperfecta, perinatal lethal
Osteogenesis imperfecta type III
Ehlers-Danlos syndrome, cardiac valvular type
Ehlers-danlos syndrome, arthrochalasia type, 2
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1584320605

3 SubmittersRCV000850502RCV002234320RCV003238813
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
 rs_769600024

4 SubmittersRCV002235123RCV002275144RCV004789223
NM_000089.4(COL1A2):c.1892G>T (p.Gly631Val) SNV
Germline		 Chr7:94417752 Pathogenic Osteogenesis imperfecta with normal sclerae, dominant form
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type III		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1584324507

3 SubmittersRCV001809838RCV002235563RCV004596359
NM_000089.4(COL1A2):c.2098G>C (p.Gly700Arg) SNV
Germline		 Chr7:94420251 Pathogenic Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1		 Criteria Provided
Single Submitter
 rs_72658160

1 SubmittersRCV002235432
NM_000089.4(COL1A2):c.2098G>T (p.Gly700Cys) SNV
Germline		 Chr7:94420251 Pathogenic Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_72658160

2 SubmittersRCV002234258RCV003223677
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
 rs_1584326393

1 SubmittersRCV002233867
NM_000089.4(COL1A2):c.3495C>G (p.Asp1165Glu) SNV
Germline		 Chr7:94427854 Pathogenic Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1		 Criteria Provided
Single Submitter
 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		 Criteria Provided
Conflicting Classifications
 rs_768808806

5 SubmittersRCV000819846RCV002332698RCV003482319RCV004549897
NM_000088.4(COL1A1):c.4081G>T (p.Glu1361Ter) SNV
Germline		 Chr17:50185945 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter
 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
 rs_918420911

4 SubmittersRCV000815255RCV001289261RCV002469297
NM_000088.4(COL1A1):c.3496G>A (p.Gly1166Ser) SNV
Germline		 Chr17:50187050 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter
 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
 rs_72648330

6 SubmittersRCV000801597RCV001575653RCV001788353RCV004796318
NM_000088.4(COL1A1):c.1261C>T (p.Gln421Ter) SNV
Germline		 Chr17:50195270 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter
 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
 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
 rs_72648313

2 SubmittersRCV000792555RCV002470982
NM_000088.4(COL1A1):c.823G>T (p.Gly275Cys) SNV
Germline		 Chr17:50196652 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter
 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
 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
 rs_72667037

3 SubmittersRCV000822915RCV002363171RCV004720014
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
 rs_570526849

2 SubmittersRCV000798625RCV001797144
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
 rs_374065372

6 SubmittersRCV000819589RCV001531431RCV002279549RCV002279548RCV002390684
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		 Criteria Provided
Conflicting Classifications
 rs_367643097

4 SubmittersRCV000815235RCV004028845RCV004693361
NM_000088.4(COL1A1):c.3046-2A>T SNV
Germline		 Chr17:50188797 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter
 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
 rs_72653150

2 SubmittersRCV000805862RCV003456436
NM_000088.4(COL1A1):c.2127+1G>A SNV
Germline		 Chr17:50191787 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter
 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
 rs_66555264

3 SubmittersRCV000804013RCV000991250
NM_000088.4(COL1A1):c.1614+2T>A SNV
Germline		 Chr17:50194347 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Multiple Submitters
No Conflicts
 rs_1598295482

2 SubmittersRCV000813208
NM_000088.4(COL1A1):c.334-1G>A SNV
Germline		 Chr17:50199454 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter
 rs_1598301459

1 SubmittersRCV000823839
NM_000088.4(COL1A1):c.2452-1G>C SNV
Germline		 Chr17:50190109 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Multiple Submitters
No Conflicts
 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
 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
 rs_199977856

4 SubmittersRCV000828828RCV001123358RCV003908126
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
 rs_762383656

2 SubmittersRCV000844859RCV001858445
NM_002615.7(SERPINF1):c.559C>T (p.Gln187Ter) SNV
Germline		 Chr17:1771991 Likely pathogenic Osteogenesis imperfecta type 6 Criteria Provided
Single Submitter
 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
 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
 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
 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
 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
 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
 rs_1584322496

2 SubmittersRCV000860001RCV002279563
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
 rs_1592257435

3 SubmittersRCV000860011RCV002538348
NM_021939.4(FKBP10):c.918-2A>G SNV
Germline		 Chr17:41819528 Likely pathogenic Osteogenesis imperfecta type III Criteria Provided
Single Submitter
 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
 rs_786201032

3 SubmittersRCV000850247RCV002536171
NM_000089.4(COL1A2):c.431A>G (p.Asp144Gly) SNV
Unknown		 Chr7:94404891 Likely pathogenic Osteogenesis imperfecta Criteria Provided
Single Submitter
 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
 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
 rs_1131692167

3 SubmittersRCV000991263RCV003315360RCV004702472
NM_000089.4(COL1A2):c.892G>A (p.Gly298Ser) SNV
Germline		 Chr7:94409564 Pathogenic/Likely pathogenic Osteogenesis imperfecta
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_72656389

2 SubmittersRCV000991262RCV002536188
NM_000089.4(COL1A2):c.1001G>A (p.Gly334Asp) SNV
Unknown		 Chr7:94409787 Likely pathogenic Osteogenesis imperfecta Criteria Provided
Single Submitter
 rs_1584319418

1 SubmittersRCV000991264
NM_000089.4(COL1A2):c.1667G>T (p.Gly556Val) SNV
Germline		 Chr7:94414223 Likely pathogenic Osteogenesis imperfecta Criteria Provided
Single Submitter
 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
 rs_1584330959

1 SubmittersRCV000991261
NM_000088.4(COL1A1):c.4171C>T (p.Gln1391Ter) SNV
Unknown		 Chr17:50185855 Pathogenic Osteogenesis imperfecta Criteria Provided
Single Submitter
 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
 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
 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
 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
 rs_1598290382

3 SubmittersRCV000991255RCV001858505
NM_000088.4(COL1A1):c.1843G>T (p.Glu615Ter) SNV
Unknown		 Chr17:50192829 Pathogenic Osteogenesis imperfecta Criteria Provided
Single Submitter
 rs_1598293920

1 SubmittersRCV000991257
NM_000088.4(COL1A1):c.733G>T (p.Gly245Trp) SNV
Unknown		 Chr17:50197197 Likely pathogenic Osteogenesis imperfecta Criteria Provided
Single Submitter
 rs_1598299275

1 SubmittersRCV000991254
NM_000088.4(COL1A1):c.617G>T (p.Gly206Val) SNV
Unknown		 Chr17:50197974 Likely pathogenic Osteogenesis imperfecta Criteria Provided
Single Submitter
 rs_1598300054

1 SubmittersRCV000991258
NM_000088.4(COL1A1):c.4248+1G>A SNV
Unknown		 Chr17:50185777 Pathogenic Osteogenesis imperfecta Criteria Provided
Single Submitter
 rs_111953130

1 SubmittersRCV000991260
NM_000088.4(COL1A1):c.2667+1G>C SNV
Germline		 Chr17:50189678 Pathogenic Osteogenesis imperfecta Criteria Provided
Single Submitter
 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
 rs_72648352

2 SubmittersRCV000991256RCV003229868
NM_000088.4(COL1A1):c.4003C>T (p.Gln1335Ter) SNV
Germline		 Chr17:50186319 Pathogenic Osteogenesis imperfecta
Osteogenesis imperfecta type I		 Criteria Provided
Single Submitter
 rs_868166455

2 SubmittersRCV000853536RCV003631165
NM_015154.3(MESD):c.676C>T (p.Arg226Ter) SNV
Germline		 Chr15:80979248 Pathogenic Osteogenesis imperfecta, type 20 No Assertion Criteria Provided
 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		 Criteria Provided
Conflicting Classifications
 rs_140254470

4 SubmittersRCV000876554RCV001535008RCV002540006RCV003920455
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
 rs_527679322

3 SubmittersRCV000877300RCV002279591
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
 rs_372710498

4 SubmittersRCV000876555RCV001556317RCV002540007RCV003955744
NM_000089.4(COL1A2):c.526T>C (p.Phe176Leu) SNV
Germline		 Chr7:94405712 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
Cardiovascular phenotype		 Criteria Provided
Conflicting Classifications
 rs_370234887

5 SubmittersRCV000878240RCV001159496RCV001159495RCV002235943RCV002346040
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
 rs_142570406

5 SubmittersRCV000877669RCV001557980RCV002279593RCV004609561
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		 Criteria Provided
Conflicting Classifications
 rs_781491172

5 SubmittersRCV000871482RCV001125399RCV001125400RCV001125401RCV001289259RCV002442860
NM_000088.4(COL1A1):c.2168C>T (p.Ala723Val) SNV
Germline		 Chr17:50191450 Conflicting classifications of pathogenicity Infantile cortical hyperostosis
Ehlers-Danlos syndrome, arthrochalasia type
Osteogenesis imperfecta
Osteogenesis imperfecta type I
not specified		 Criteria Provided
Conflicting Classifications
 rs_561374961

4 SubmittersRCV001124579RCV001124580RCV001125578RCV001512876RCV004702498
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
 rs_773343407

3 SubmittersRCV000878024RCV002540034
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		 Criteria Provided
Conflicting Classifications
 rs_762315953

3 SubmittersRCV000871724RCV001400552RCV004768727
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		 Criteria Provided
Conflicting Classifications
 rs_774842422

3 SubmittersRCV002235944RCV002279595RCV003955773
NM_000089.4(COL1A2):c.880G>T (p.Val294Phe) SNV
Germline		 Chr7:94409409 Conflicting classifications of pathogenicity Condition: not provided
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome
Cardiovascular phenotype
COL1A2-related disorder		 Criteria Provided
Conflicting Classifications
 rs_145693444

5 SubmittersRCV000952651RCV002235777RCV002279662RCV003380794RCV004743223
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
 rs_749869789

4 SubmittersRCV000952592RCV002235839RCV002279661RCV004029842
NM_000089.4(COL1A2):c.2799T>C (p.Asp933=) SNV
Germline		 Chr7:94425627 Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I
See cases
Cardiovascular phenotype		 Criteria Provided
Conflicting Classifications
 rs_751960243

3 SubmittersRCV002235775RCV002252272RCV002434317
NM_000089.4(COL1A2):c.2826C>T (p.Pro942=) SNV
Germline		 Chr7:94425654 Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I
Osteogenesis imperfecta
Cardiovascular phenotype		 Criteria Provided
Conflicting Classifications
 rs_199580542

3 SubmittersRCV000949143RCV002279654RCV002434311
NM_000088.4(COL1A1):c.3333T>C (p.Arg1111=) SNV
Germline		 Chr17:50187912 Conflicting classifications of pathogenicity Osteogenesis imperfecta type I
Infantile cortical hyperostosis
Ehlers-Danlos syndrome, arthrochalasia type
Osteogenesis imperfecta
Cardiovascular phenotype		 Criteria Provided
Conflicting Classifications
 rs_372044347

3 SubmittersRCV000952091RCV001125397RCV001125398RCV001125396RCV002320169
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		 Criteria Provided
Conflicting Classifications
 rs_41317351

5 SubmittersRCV000951771RCV001125938RCV001124962RCV001125939RCV001514154RCV002336998RCV004553407
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
 rs_1424117367

2 SubmittersRCV003631169RCV004800645
NM_003118.4(SPARC):c.733G>A (p.Gly245Arg) SNV
Germline		 Chr5:151666362 Conflicting classifications of pathogenicity Condition: not provided
Osteogenesis imperfecta
Inborn genetic diseases
SPARC-related disorder		 Criteria Provided
Conflicting Classifications
 rs_41290587

7 SubmittersRCV000966976RCV002279674RCV002548320RCV003928424
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
 rs_116142981

3 SubmittersRCV000965382RCV002279671RCV003935996
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
 rs_757759451

3 SubmittersRCV000960716RCV001127263RCV001127264RCV001127265RCV002327192
NM_000089.4(COL1A2):c.1555C>T (p.Arg519Trp) SNV
Germline		 Chr7:94413134 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
 rs_151256720

2 SubmittersRCV001162573RCV001162572RCV001858557
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
 rs_140157299

8 SubmittersRCV000889340RCV002279614RCV003226405RCV003957920
NM_018112.3(TMEM38B):c.799G>A (p.Val267Ile) SNV
Germline		 Chr9:105774003 Conflicting classifications of pathogenicity Condition: not provided
TMEM38B-related disorder
Inborn genetic diseases
Osteogenesis imperfecta type 14		 Criteria Provided
Conflicting Classifications
 rs_149026877

7 SubmittersRCV000879300RCV003940375RCV002536814RCV003653417
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
 rs_187725533

5 SubmittersRCV000881913RCV001334433RCV003920559
NM_001235.5(SERPINH1):c.1119C>T (p.Arg373=) SNV
Germline		 Chr11:75571945 Conflicting classifications of pathogenicity Condition: not provided
Osteogenesis imperfecta type 10
not specified
SERPINH1-related disorder		 Criteria Provided
Conflicting Classifications
 rs_375913094

5 SubmittersRCV000890514RCV001109026RCV001002308RCV003975618
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
 rs_540061657

2 SubmittersRCV000908135RCV001108923
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
 rs_143450797

6 SubmittersRCV000908666RCV001122386RCV002279627RCV004702517
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
 rs_147148985

3 SubmittersRCV000895451RCV002279617RCV003950454
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
 rs_1017077909

2 SubmittersRCV002235495RCV003884800
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
 rs_149176169

3 SubmittersRCV000924920RCV001162187RCV002279644
NM_002335.4(LRP5):c.291C>T (p.Ala97=) SNV
Germline		 Chr11:68348046 Conflicting classifications of pathogenicity not specified
Condition: not provided
Osteogenesis imperfecta		 Criteria Provided
Conflicting Classifications
 rs_146667935

6 SubmittersRCV003994167RCV000922284RCV002279640
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
 rs_536928726

2 SubmittersRCV000919405RCV002279638
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
 rs_199576301

2 SubmittersRCV000916420RCV002279635
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
 rs_1264208772

2 SubmittersRCV000943216RCV001160573
NM_000478.6(ALPL):c.204G>A (p.Thr68=) SNV
Germline		 Chr1:21561119 Conflicting classifications of pathogenicity Osteogenesis imperfecta
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_537814225

2 SubmittersRCV002279679RCV000977893
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
 rs_763299873

2 SubmittersRCV000983345RCV001162108
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
 rs_367978759

3 SubmittersRCV000976582RCV001159221RCV002279678
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
 rs_371547661

3 SubmittersRCV000983956RCV001428697RCV002354889
NM_000088.4(COL1A1):c.2069C>T (p.Pro690Leu) SNV
Germline		 Chr17:50191846 Conflicting classifications of pathogenicity Condition: not provided
Osteogenesis imperfecta type I		 Criteria Provided
Conflicting Classifications
 rs_760258050

2 SubmittersRCV000981759RCV001455114
NM_000089.4(COL1A2):c.1315G>T (p.Gly439Cys) SNV
Germline		 Chr7:94411119 Pathogenic Osteogenesis imperfecta type I No Assertion Criteria Provided
 rs_1584320553

1 SubmittersRCV000984473
NM_000088.4(COL1A1):c.805-1G>A SNV
Germline		 Chr17:50196671 Pathogenic Osteogenesis imperfecta type I No Assertion Criteria Provided
 rs_1598298699

1 SubmittersRCV000984474
NM_000088.4(COL1A1):c.1201-1G>A SNV
Germline		 Chr17:50195331 Pathogenic Osteogenesis imperfecta
Osteogenesis imperfecta type I
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_72648321

3 SubmittersRCV000984545RCV001387572RCV001784481
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
 rs_1584325552

2 SubmittersRCV000987926RCV001823173
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
 rs_138164489

5 SubmittersRCV000989946RCV001726407RCV002409320
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
 rs_72645352

2 SubmittersRCV000989948RCV002279683
NM_000088.4(COL1A1):c.725G>T (p.Gly242Val) SNV
Unknown		 Chr17:50197205 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter
 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
 rs_762979302

4 SubmittersRCV000989951RCV002250711RCV003128733
NM_000088.4(COL1A1):c.3556C>G (p.Pro1186Ala) SNV
Germline		 Chr17:50186898 Conflicting classifications of pathogenicity Cardiovascular phenotype
Osteogenesis imperfecta type I
Condition: not provided
Ehlers-Danlos syndrome, arthrochalasia type		 Criteria Provided
Conflicting Classifications
 rs_766461654

6 SubmittersRCV004994175RCV001307345RCV000996575RCV002471007
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
 rs_1584330396

1 SubmittersRCV000995714
NM_021939.4(FKBP10):c.942T>C (p.Asn314=) SNV
Germline		 Chr17:41819554 Conflicting classifications of pathogenicity Osteogenesis imperfecta type 11
Condition: not provided
Osteogenesis imperfecta
not specified		 Criteria Provided
Conflicting Classifications
 rs_376553350

4 SubmittersRCV001128130RCV002068797RCV002279702RCV001002571
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
 rs_146422412

9 SubmittersRCV001000309RCV001460849RCV002279698RCV003906141
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
 rs_72653156

2 SubmittersRCV001002497RCV001869431
NM_000088.4(COL1A1):c.2110G>A (p.Gly704Ser) SNV
Germline		 Chr17:50191805 Pathogenic not specified
Osteogenesis imperfecta type I
Condition: not provided
Osteogenesis imperfecta, perinatal lethal		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_67368147

5 SubmittersRCV001002442RCV001385147RCV001547154RCV001822862
NM_000088.4(COL1A1):c.1922G>T (p.Gly641Val) SNV
Germline		 Chr17:50192647 Pathogenic Osteogenesis imperfecta, perinatal lethal No Assertion Criteria Provided
 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
 rs_1652311421

1 SubmittersRCV001067198
NM_000089.4(COL1A2):c.335G>A (p.Gly112Asp) SNV
Germline		 Chr7:94404703 Pathogenic Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I		 Criteria Provided
Single Submitter
 rs_1791759246

1 SubmittersRCV002239315
NM_000089.4(COL1A2):c.353G>T (p.Gly118Val) SNV
Germline		 Chr7:94404721 Pathogenic Condition: not provided
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_72656358

2 SubmittersRCV001563459RCV002239314
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
 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		 Criteria Provided
Single Submitter
 rs_72658112

1 SubmittersRCV002240378
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
 rs_1791913210

1 SubmittersRCV001066906
NM_000089.4(COL1A2):c.1583A>G (p.Asn528Ser) SNV
Germline		 Chr7:94413715 Conflicting classifications of pathogenicity Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_41317144

3 SubmittersRCV002240325RCV001811631
NM_000089.4(COL1A2):c.1915A>G (p.Ser639Gly) SNV
Germline		 Chr7:94417775 Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I
Cardiovascular phenotype		 Criteria Provided
Conflicting Classifications
 rs_766541995

2 SubmittersRCV002240366RCV004994220
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
 rs_72658171

1 SubmittersRCV002240267
NM_000089.4(COL1A2):c.2305G>T (p.Gly769Cys) SNV
Germline		 Chr7:94421018 Pathogenic Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I
Osteogenesis imperfecta, perinatal lethal		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1792147522

2 SubmittersRCV002239310RCV002249643
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
 rs_1792149726

1 SubmittersRCV002239349
NM_000089.4(COL1A2):c.2422G>A (p.Gly808Ser) SNV
Germline		 Chr7:94422975 Pathogenic Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1		 Criteria Provided
Single Submitter
 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
 rs_1792256171

1 SubmittersRCV002240622
NM_000089.4(COL1A2):c.3250G>T (p.Gly1084Cys) SNV
Germline		 Chr7:94427278 Conflicting classifications of pathogenicity Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
Ehlers-Danlos syndrome
Condition: not provided
7 conditions		 Criteria Provided
Conflicting Classifications
 rs_1792298693

4 SubmittersRCV002240229RCV002298860RCV004720054RCV004796357
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
 rs_149524398

4 SubmittersRCV001043932RCV002276599
NM_000088.4(COL1A1):c.4321G>C (p.Asp1441His) SNV
Germline		 Chr17:50185576 Pathogenic/Likely pathogenic Osteogenesis imperfecta type I
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_72656351

2 SubmittersRCV001055118RCV004792685
NM_000088.4(COL1A1):c.4163T>C (p.Leu1388Pro) SNV
Germline		 Chr17:50185863 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter
 rs_72656348

1 SubmittersRCV001044363
NM_000088.4(COL1A1):c.3821A>C (p.Tyr1274Ser) SNV
Germline		 Chr17:50186501 Likely pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter
 rs_1906537608

1 SubmittersRCV001056673
NM_000088.4(COL1A1):c.3652G>A (p.Ala1218Thr) SNV
Germline		 Chr17:50186802 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Multiple Submitters
No Conflicts
 rs_72656337

2 SubmittersRCV001058312
NM_000088.4(COL1A1):c.3451G>A (p.Gly1151Ser) SNV
Germline		 Chr17:50187095 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter
 rs_72656320

1 SubmittersRCV001059157
NM_000088.4(COL1A1):c.2704G>A (p.Gly902Ser) SNV
Germline		 Chr17:50189502 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter
 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
 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
 rs_1907330109

2 SubmittersRCV001054858RCV003117728
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		 Criteria Provided
Conflicting Classifications
 rs_1051473344

4 SubmittersRCV001058869RCV001121991RCV001121992RCV001090964RCV001121993RCV002393283
NM_000088.4(COL1A1):c.1454G>C (p.Gly485Ala) SNV
Germline		 Chr17:50194728 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter
 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
 rs_72648333

1 SubmittersRCV001070529
NM_000088.4(COL1A1):c.607G>A (p.Gly203Ser) SNV
Germline		 Chr17:50197984 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter
 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
 rs_776611767

4 SubmittersRCV001042968RCV001352694RCV002372774RCV004553577
NM_000088.4(COL1A1):c.276T>A (p.Cys92Ter) SNV
Germline		 Chr17:50199775 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter
 rs_1907921633

1 SubmittersRCV001042084
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
 rs_72658140

1 SubmittersRCV001065085
NM_000089.4(COL1A2):c.2674-3T>G SNV
Germline		 Chr7:94425114 Pathogenic Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type		 Criteria Provided
Single Submitter
 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
 rs_1652352034

1 SubmittersRCV001036321
NM_000088.4(COL1A1):c.1821+1G>T SNV
Germline		 Chr17:50192993 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter
 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
 rs_72648370

2 SubmittersRCV001039589RCV001564365
NM_000088.4(COL1A1):c.103+5G>C SNV
Germline		 Chr17:50201406 Likely pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter
 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
 rs_1908083033

2 SubmittersRCV001065489RCV003994205
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
 rs_72651667

2 SubmittersRCV001067208RCV003325541
NM_000088.4(COL1A1):c.2128-1G>A SNV
Germline		 Chr17:50191491 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter
 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
 rs_1907669327

1 SubmittersRCV001051200
NM_000089.4(COL1A2):c.2565+1G>C SNV
Germline		 Chr7:94423119 Pathogenic Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I		 Criteria Provided
Single Submitter
 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
 rs_67543897

1 SubmittersRCV001048044
NM_000088.4(COL1A1):c.4248+2T>C SNV
Germline		 Chr17:50185776 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter
 rs_112274185

1 SubmittersRCV001056827
NM_000088.4(COL1A1):c.3531+5G>A SNV
Germline		 Chr17:50187010 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter
 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
 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
 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
 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
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
Cardiovascular phenotype
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1054264002

5 SubmittersRCV001260280RCV001814270RCV002240729RCV002375009RCV004726873
NM_000089.4(COL1A2):c.1081G>T (p.Gly361Cys) SNV
Germline		 Chr7:94410287 Pathogenic/Likely pathogenic Osteogenesis imperfecta
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1791894410

2 SubmittersRCV001260281RCV003769010
NM_002615.7(SERPINF1):c.808G>T (p.Gly270Ter) SNV
Germline		 Chr17:1776553 Pathogenic Osteogenesis imperfecta Criteria Provided
Single Submitter
 rs_369314029

1 SubmittersRCV001260289
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
 rs_72653141

2 SubmittersRCV001260270RCV002471036
NM_000088.4(COL1A1):c.1112G>C (p.Gly371Ala) SNV
Germline		 Chr17:50195610 Likely pathogenic Osteogenesis imperfecta Criteria Provided
Single Submitter
 rs_1907512918

1 SubmittersRCV001260265
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
 rs_762653813

4 SubmittersRCV001260274RCV001759859RCV003631174
NM_000088.4(COL1A1):c.3370-1G>C SNV
Germline		 Chr17:50187538 Pathogenic Osteogenesis imperfecta Criteria Provided
Single Submitter
 rs_112042777

1 SubmittersRCV001260269
NM_000088.4(COL1A1):c.1002+5G>T SNV
Germline		 Chr17:50196150 Likely pathogenic Osteogenesis imperfecta Criteria Provided
Single Submitter
 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
 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
 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
 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
 rs_72653156

2 SubmittersRCV001090960RCV002555943
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
 rs_373873548

2 SubmittersRCV001090962RCV001862685
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
 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 No Assertion Criteria Provided
 rs_72656385

1 SubmittersRCV001261878
NM_022356.4(P3H1):c.*77C>T SNV
Germline		 Chr1:42746620 Conflicting classifications of pathogenicity Osteogenesis Imperfecta, Recessive
Osteogenesis imperfecta type 8
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_13871

2 SubmittersRCV001095900RCV001095901RCV001644915
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
 rs_372711844

2 SubmittersRCV001097678RCV001456816
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
 rs_760909376

3 SubmittersRCV001099453RCV004726882
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
 rs_747701845

2 SubmittersRCV001101452RCV003495232
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
 rs_777090883

3 SubmittersRCV001101546RCV001287271
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
 rs_1237398609

2 SubmittersRCV001099659RCV003600399
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
 rs_190782130

1 SubmittersRCV001099663RCV001099664
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
 rs_202219307

2 SubmittersRCV001096111RCV002069623
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
 rs_199548932

3 SubmittersRCV001109025RCV001811661
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
 rs_368586977

2 SubmittersRCV001109027RCV002556130
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
 rs_776724565

2 SubmittersRCV001118290RCV002558170
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
 rs_202059751

2 SubmittersRCV001119818RCV002069945
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
 rs_139841572

4 SubmittersRCV001125366RCV001577619RCV002276631
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
 rs_781013736

2 SubmittersRCV001125367RCV002070045
NM_002615.7(SERPINF1):c.392C>A (p.Ala131Asp) SNV
Germline		 Chr17:1771137 Conflicting classifications of pathogenicity Osteogenesis imperfecta type 6
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_148005190

3 SubmittersRCV001127453RCV001759890
NM_021939.4(FKBP10):c.393G>A (p.Ala131=) SNV
Germline		 Chr17:41818090 Conflicting classifications of pathogenicity Osteogenesis imperfecta type 11
Osteogenesis imperfecta
Condition: not provided
FKBP10-related disorder		 Criteria Provided
Conflicting Classifications
 rs_573350587

4 SubmittersRCV001125050RCV002276630RCV003117771RCV003938476
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
 rs_117897485

2 SubmittersRCV001125052RCV002070037
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
 rs_782350228

2 SubmittersRCV001126028RCV003546636
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
 rs_782308119

2 SubmittersRCV001126029RCV003679039
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
 rs_782789538

2 SubmittersRCV001126031RCV002070060
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
 rs_782781776

2 SubmittersRCV001122387RCV002069995
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
 rs_782332252

2 SubmittersRCV001122388RCV003769187
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
 rs_200882287

2 SubmittersRCV001128603RCV001128601RCV001128602RCV001779120
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
 rs_1061970

2 SubmittersRCV001122905RCV001122904RCV001128604RCV001615120
NM_000088.4(COL1A1):c.*836C>T SNV
Germline		 Chr17:50184666 Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, arthrochalasia type
Infantile cortical hyperostosis
Osteogenesis imperfecta		 Criteria Provided
Conflicting Classifications
 rs_527358320

1 SubmittersRCV001123976RCV001123975RCV001123977
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
 rs_557681960

1 SubmittersRCV001123014RCV001123016RCV001123015
NM_000088.4(COL1A1):c.*93A>G SNV
Germline		 Chr17:50185409 Conflicting classifications of pathogenicity Osteogenesis imperfecta
Ehlers-Danlos syndrome, arthrochalasia type
Infantile cortical hyperostosis		 Criteria Provided
Conflicting Classifications
 rs_367971695

1 SubmittersRCV001123093RCV001127152RCV001127151
NM_000088.4(COL1A1):c.4276G>A (p.Val1426Met) SNV
Germline		 Chr17:50185621 Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, arthrochalasia type
Osteogenesis imperfecta
Infantile cortical hyperostosis		 Criteria Provided
Conflicting Classifications
 rs_763025405

1 SubmittersRCV001126861RCV001126862RCV001126860
NM_000088.4(COL1A1):c.3987C>T (p.Ser1329=) SNV
Germline		 Chr17:50186335 Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, arthrochalasia type
Osteogenesis imperfecta
Infantile cortical hyperostosis
Osteogenesis imperfecta type I		 Criteria Provided
Conflicting Classifications
 rs_756297543

2 SubmittersRCV001124276RCV001124278RCV001124277RCV001856637
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
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome
Condition: not provided
Cardiovascular phenotype		 Criteria Provided
Conflicting Classifications
 rs_371904584

5 SubmittersRCV001127362RCV001127363RCV001127364RCV001856661RCV002276632RCV003222227RCV002348571
NM_000088.4(COL1A1):c.3619G>A (p.Glu1207Lys) SNV
Germline		 Chr17:50186835 Conflicting classifications of pathogenicity Infantile cortical hyperostosis
Ehlers-Danlos syndrome, arthrochalasia type
Osteogenesis imperfecta
Cardiovascular phenotype
Osteogenesis imperfecta type I		 Criteria Provided
Conflicting Classifications
 rs_746671446

3 SubmittersRCV001123292RCV001123290RCV001123291RCV002451330RCV003631175
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
 rs_372029024

4 SubmittersRCV001127483RCV001127481RCV001127482RCV001219328RCV003380850RCV003480969
NM_000088.4(COL1A1):c.2424C>T (p.Pro808=) SNV
Germline		 Chr17:50190354 Conflicting classifications of pathogenicity Osteogenesis imperfecta
Infantile cortical hyperostosis
Ehlers-Danlos syndrome, arthrochalasia type
Osteogenesis imperfecta type I
Cardiovascular phenotype
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_369699409

4 SubmittersRCV001123493RCV001123492RCV001123491RCV001494295RCV002451332RCV003736990
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
 rs_765154255

3 SubmittersRCV001125750RCV001125751RCV001125752RCV002556724RCV003283992
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		 Criteria Provided
Conflicting Classifications
 rs_72645362

5 SubmittersRCV001122082RCV001122083RCV001122084RCV001724251RCV003480966RCV004994255
NM_000088.4(COL1A1):c.1017C>T (p.Pro339=) SNV
Germline		 Chr17:50195962 Conflicting classifications of pathogenicity Infantile cortical hyperostosis
Osteogenesis imperfecta
Ehlers-Danlos syndrome, arthrochalasia type
Osteogenesis imperfecta type I
Cardiovascular phenotype
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_543735501

4 SubmittersRCV001124858RCV001124860RCV001124859RCV002070034RCV002348569RCV003128813
NM_000088.4(COL1A1):c.-57G>A SNV
Germline		 Chr17:50201570 Conflicting classifications of pathogenicity Infantile cortical hyperostosis
Osteogenesis imperfecta
Ehlers-Danlos syndrome, arthrochalasia type		 Criteria Provided
Conflicting Classifications
 rs_2734278

1 SubmittersRCV001125067RCV001125069RCV001125068
NM_000088.4(COL1A1):c.-98G>A SNV
Germline		 Chr17:50201611 Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, arthrochalasia type
Osteogenesis imperfecta
Infantile cortical hyperostosis
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_574683904

2 SubmittersRCV001126042RCV001126041RCV001126040RCV003145355
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
 rs_376447025

3 SubmittersRCV001125454RCV002070046RCV004702646
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
 rs_199627092

2 SubmittersRCV001128131RCV002556801
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
 rs_199627092

2 SubmittersRCV001128132RCV002558258
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
 rs_782331462

2 SubmittersRCV001125168RCV003769207
NM_000088.4(COL1A1):c.3815-10C>T SNV
Germline		 Chr17:50186517 Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, arthrochalasia type
Osteogenesis imperfecta
Infantile cortical hyperostosis
Osteogenesis imperfecta type I		 Criteria Provided
Conflicting Classifications
 rs_770568983

2 SubmittersRCV001126946RCV001126947RCV001126948RCV002556768
NM_000088.4(COL1A1):c.1615-14C>T SNV
Germline		 Chr17:50194197 Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, arthrochalasia type
Infantile cortical hyperostosis
Osteogenesis imperfecta
Osteogenesis imperfecta type I		 Criteria Provided
Conflicting Classifications
 rs_190098788

2 SubmittersRCV001121987RCV001127771RCV001127770RCV002069980
NM_000088.4(COL1A1):c.1155+12C>T SNV
Germline		 Chr17:50195555 Conflicting classifications of pathogenicity Infantile cortical hyperostosis
Ehlers-Danlos syndrome, arthrochalasia type
Osteogenesis imperfecta
Osteogenesis imperfecta type I		 Criteria Provided
Conflicting Classifications
 rs_774034198

2 SubmittersRCV001122081RCV001122080RCV001127855RCV002069982
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
 rs_189698814

2 SubmittersRCV001150537RCV001568716
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
 rs_772038741

3 SubmittersRCV001144447RCV001586004
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
 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
 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
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1		 Criteria Provided
Conflicting Classifications
 rs_1462108134

3 SubmittersRCV001164424RCV001164425RCV002348587RCV002559577
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
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1		 Criteria Provided
Conflicting Classifications
 rs_1584318648

2 SubmittersRCV001160863RCV001160864RCV002558527
NM_000089.4(COL1A2):c.1089C>T (p.Pro363=) SNV
Germline		 Chr7:94410295 Conflicting classifications of pathogenicity Ehlers-danlos syndrome, arthrochalasia type, 2
Osteogenesis imperfecta
Cardiovascular phenotype
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1		 Criteria Provided
Conflicting Classifications
 rs_748961276

3 SubmittersRCV001160977RCV001160978RCV002445402RCV001859042
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
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I
Cardiovascular phenotype		 Criteria Provided
Conflicting Classifications
 rs_1394933873

3 SubmittersRCV001159703RCV001159704RCV003769767RCV004032841
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
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I
Cardiovascular phenotype		 Criteria Provided
Conflicting Classifications
 rs_202068380

4 SubmittersRCV001159812RCV001159813RCV001575264RCV002070973RCV002429782
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
Cardiovascular phenotype
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
Ehlers-Danlos syndrome
COL1A2-related disorder		 Criteria Provided
Conflicting Classifications
 rs_926855674

5 SubmittersRCV001164959RCV001164960RCV003163359RCV002240740RCV002276649RCV003973119
NM_000089.4(COL1A2):c.3954T>C (p.Ser1318=) SNV
Germline		 Chr7:94429430 Conflicting classifications of pathogenicity COL1A2-related disorder
Osteogenesis imperfecta
Ehlers-danlos syndrome, arthrochalasia type, 2		 Criteria Provided
Conflicting Classifications
 rs_781599112

2 SubmittersRCV003938529RCV001160037RCV001160038
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
 rs_749485360

2 SubmittersRCV001164026RCV003660863
NM_006129.5(BMP1):c.1044C>T (p.Cys348=) SNV
Germline		 Chr8:22180450 Conflicting classifications of pathogenicity Osteogenesis imperfecta type 13
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_149174555

2 SubmittersRCV001159120RCV002070960
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
 rs_374534506

3 SubmittersRCV001162105RCV002558548RCV002558547
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
 rs_149426277

3 SubmittersRCV001164122RCV003727927
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
 rs_780689541

2 SubmittersRCV001159220RCV004601376
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
 rs_574472338

3 SubmittersRCV001160574RCV002276648RCV002559539
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
 rs_376975956

3 SubmittersRCV001160575RCV002070987RCV003898156
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
 rs_369882085

2 SubmittersRCV001164028RCV003769793
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
 rs_371954727

3 SubmittersRCV001162107RCV002071010
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
 rs_763277589

2 SubmittersRCV001159222RCV002558407
NM_000089.4(COL1A2):c.785G>A (p.Gly262Asp) SNV
Germline		 Chr7:94408816 Likely pathogenic Condition: not provided
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1791858238

2 SubmittersRCV001171992RCV001873587
NM_000089.4(COL1A2):c.3527-4A>T SNV
Germline		 Chr7:94428289 Conflicting classifications of pathogenicity Condition: not provided
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I		 Criteria Provided
Conflicting Classifications
 rs_888826541

2 SubmittersRCV001171865RCV002068054
NM_000088.4(COL1A1):c.2182G>T (p.Gly728Ter) SNV
Germline		 Chr17:50191436 Pathogenic Osteogenesis imperfecta type I No Assertion Criteria Provided
 rs_72651648

1 SubmittersRCV001175159
NM_000089.4(COL1A2):c.551G>A (p.Gly184Asp) SNV
Unknown		 Chr7:94406260 Likely pathogenic Osteogenesis imperfecta with normal sclerae, dominant form Criteria Provided
Single Submitter
 rs_1791793398

1 SubmittersRCV001198993
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
 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
 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
 rs_1907516553

2 SubmittersRCV001196899RCV003163499
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
 rs_1907672538

2 SubmittersRCV001197453RCV002560234
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
 rs_750868020

3 SubmittersRCV001257269RCV002069366RCV003738027
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
 rs_200458986

3 SubmittersRCV001196192RCV002222199RCV002560218
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		 Criteria Provided
Conflicting Classifications
 rs_201349683

2 SubmittersRCV001198572RCV002559266
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
 rs_67525025

1 SubmittersRCV002241151
NM_000089.4(COL1A2):c.1171G>T (p.Gly391Cys) SNV
Germline		 Chr7:94410501 Pathogenic Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I		 Criteria Provided
Single Submitter
 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
 rs_1791952936

1 SubmittersRCV002241275
NM_000089.4(COL1A2):c.2296G>C (p.Gly766Arg) SNV
Germline		 Chr7:94421009 Pathogenic Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1		 Criteria Provided
Single Submitter
 rs_72658182

1 SubmittersRCV002241231
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
 rs_72659327

1 SubmittersRCV002241257
NM_000089.4(COL1A2):c.3815G>T (p.Cys1272Phe) SNV
Germline		 Chr7:94429291 Pathogenic Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I		 Criteria Provided
Single Submitter
 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
 rs_72656349

3 SubmittersRCV001220617RCV004548075RCV004782670
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
 rs_558173513

3 SubmittersRCV001219681RCV002276664RCV001587241
NM_000088.4(COL1A1):c.626G>C (p.Gly209Ala) SNV
Germline		 Chr17:50197965 Likely pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter
 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
 rs_1791759301

1 SubmittersRCV002240935
NM_000089.4(COL1A2):c.2063G>A (p.Gly688Glu) SNV
Germline		 Chr7:94419535 Likely pathogenic Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1		 Criteria Provided
Single Submitter
 rs_1792108068

1 SubmittersRCV002240948
NM_000089.4(COL1A2):c.2215G>A (p.Gly739Arg) SNV
Germline		 Chr7:94420568 Pathogenic Ehlers-Danlos syndrome, classic type
Osteogenesis imperfecta type I		 Criteria Provided
Single Submitter
 rs_72658174

1 SubmittersRCV001203350
NM_000089.4(COL1A2):c.2746G>A (p.Gly916Arg) SNV
Germline		 Chr7:94425189 Pathogenic Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1		 Criteria Provided
Single Submitter
 rs_72659308

1 SubmittersRCV002241076
NM_000089.4(COL1A2):c.3286G>A (p.Gly1096Ser) SNV
Germline		 Chr7:94427645 Pathogenic Ehlers-Danlos syndrome, classic type
Osteogenesis imperfecta type I		 Criteria Provided
Single Submitter
 rs_1792308325

1 SubmittersRCV001202983
NM_000089.4(COL1A2):c.3740C>A (p.Ser1247Tyr) SNV
Germline		 Chr7:94429216 Conflicting classifications of pathogenicity Condition: not provided
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
Cardiovascular phenotype		 Criteria Provided
Conflicting Classifications
 rs_763721360

3 SubmittersRCV001587230RCV002241104RCV002348703
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
 rs_72656351

3 SubmittersRCV001212241RCV001508814RCV003163610
NM_000088.4(COL1A1):c.3817G>T (p.Glu1273Ter) SNV
Germline		 Chr17:50186505 Pathogenic Osteogenesis imperfecta type I
Osteogenesis imperfecta with normal sclerae, dominant form		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1203106659

3 SubmittersRCV001206187RCV001330772
NM_000088.4(COL1A1):c.1270G>A (p.Gly424Ser) SNV
Germline		 Chr17:50195261 Conflicting classifications of pathogenicity Osteogenesis imperfecta type I
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_750427423

3 SubmittersRCV001207893RCV001310369
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
 rs_1554395431

1 SubmittersRCV002241409
NM_000089.4(COL1A2):c.1503+1G>A SNV
Germline		 Chr7:94412683 Likely pathogenic Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I
Osteogenesis imperfecta		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1554396615

2 SubmittersRCV002241155RCV002276665
NM_000088.4(COL1A1):c.2830-3A>G SNV
Germline		 Chr17:50189278 Likely pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter
 rs_1906853874

1 SubmittersRCV001218519
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		 Criteria Provided
Conflicting Classifications
 rs_748961276

4 SubmittersRCV001796406RCV002447186RCV002563894
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
 rs_1792140624

1 SubmittersRCV002241451
NM_000089.4(COL1A2):c.2944G>A (p.Gly982Ser) SNV
Germline		 Chr7:94425998 Pathogenic Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I		 Criteria Provided
Single Submitter
 rs_1792269292

1 SubmittersRCV002241594
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
 rs_72656351

2 SubmittersRCV001225554RCV004548076
NM_000088.4(COL1A1):c.3824G>A (p.Trp1275Ter) SNV
Germline		 Chr17:50186498 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter
 rs_1906536457

1 SubmittersRCV001237624
NM_000088.4(COL1A1):c.2291G>C (p.Gly764Ala) SNV
Germline		 Chr17:50190869 Likely pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter
 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
 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
 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
 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
 rs_1792043985

1 SubmittersRCV001240952
NM_000089.4(COL1A2):c.1837G>A (p.Gly613Arg) SNV
Germline		 Chr7:94416477 Likely pathogenic Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
Ehlers-Danlos syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1792044352

2 SubmittersRCV002241549RCV003399010
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
 rs_1792139807

1 SubmittersRCV002241786
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
 rs_1906773628

2 SubmittersRCV001225334RCV004590248
NM_000088.4(COL1A1):c.2236-1G>C SNV
Germline		 Chr17:50190925 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter
 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
 rs_68063264

2 SubmittersRCV001253080RCV002451621
NM_000088.4(COL1A1):c.3128G>C (p.Gly1043Ala) SNV
Germline		 Chr17:50188609 Likely pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter
 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
 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
 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
 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
 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
 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		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1792257312

3 SubmittersRCV001269734RCV002542860
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
 rs_1785976222

3 SubmittersRCV001270696RCV001573365
NM_006854.4(KDELR2):c.398C>T (p.Pro133Leu) SNV
Germline		 Chr7:6466277 Pathogenic Osteogenesis imperfecta, type 21 No Assertion Criteria Provided
 rs_1785501859

1 SubmittersRCV001270697
NM_006854.4(KDELR2):c.360G>A (p.Trp120Ter) SNV
Germline		 Chr7:6466315 Pathogenic Osteogenesis imperfecta, type 21 No Assertion Criteria Provided
 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
 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
 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
 rs_1214987088

2 SubmittersRCV001287330
NM_000089.4(COL1A2):c.1541G>C (p.Gly514Ala) SNV
Germline		 Chr7:94413120 Pathogenic/Likely pathogenic Condition: not provided
COL1A2-related disorder
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1791962073

4 SubmittersRCV001813162RCV004727077RCV003770450
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
 rs_1135401953

2 SubmittersRCV001812983RCV003128164
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 with normal sclerae, dominant form
Osteogenesis imperfecta type I
Osteogenesis imperfecta, perinatal lethal
COL1A1-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_66494876

4 SubmittersRCV001812395RCV002222200RCV003235539RCV004548123
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
 rs_1906585690

2 SubmittersRCV001289260RCV002543002
NM_000088.4(COL1A1):c.64G>C (p.Gly22Arg) SNV
Germline		 Chr17:50201450 Pathogenic Wiedemann-Rautenstrauch-like progeroid syndrome
Osteogenesis imperfecta type I		 Criteria Provided
Single Submitter
 rs_72667007

2 SubmittersRCV001291257RCV002543013
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
 rs_772929903

4 SubmittersRCV001298078RCV001333193RCV001565654
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
 rs_1207868159

2 SubmittersRCV001306644RCV003145542
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
 rs_549296015

2 SubmittersRCV001325046RCV004587121
NM_006371.5(CRTAP):c.1153-3C>G SNV
Germline		 Chr3:33142392 Pathogenic Osteogenesis imperfecta type 7 Criteria Provided
Single Submitter
 rs_201554363

1 SubmittersRCV001318996
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
 rs_778077946

2 SubmittersRCV001312787RCV004034266
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
 rs_563598815

5 SubmittersRCV001321934RCV002276691RCV002418966RCV003145567
NM_000088.4(COL1A1):c.1109G>A (p.Arg370His) SNV
Germline		 Chr17:50195613 Conflicting classifications of pathogenicity Osteogenesis imperfecta type I
Cardiovascular phenotype
Osteogenesis imperfecta, perinatal lethal
Osteogenesis imperfecta type III
Ehlers-Danlos syndrome, arthrochalasia type
Osteogenesis imperfecta with normal sclerae, dominant form
Osteogenesis imperfecta type I		 Criteria Provided
Conflicting Classifications
 rs_750756697

3 SubmittersRCV001327713RCV002438756RCV004546634
NM_000089.4(COL1A2):c.1352G>A (p.Gly451Asp) SNV
Germline		 Chr7:94412069 Pathogenic Osteogenesis imperfecta, perinatal lethal No Assertion Criteria Provided
 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
 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
 rs_1584318648

2 SubmittersRCV001330974RCV004797934
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
 rs_778527358

2 SubmittersRCV001330816RCV002070166
NM_000088.4(COL1A1):c.644G>T (p.Gly215Val) SNV
Unknown		 Chr17:50197784 Likely pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter
 rs_1907723511

1 SubmittersRCV001330773
NM_022356.4(P3H1):c.628C>T (p.Arg210Ter) SNV
Germline		 Chr1:42759381 Pathogenic Osteogenesis imperfecta type 8 Criteria Provided
Single Submitter
 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
 rs_1792148801

2 SubmittersRCV001333194RCV002546615
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
 rs_200412717

2 SubmittersRCV001335380RCV002070201
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
 rs_781614679

2 SubmittersRCV001340843RCV002222701
NM_000088.4(COL1A1):c.1861C>A (p.Pro621Thr) SNV
Germline		 Chr17:50192811 Conflicting classifications of pathogenicity Osteogenesis imperfecta type I
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_764186905

2 SubmittersRCV001341098RCV002261347
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
 rs_752150906

5 SubmittersRCV001343148RCV001762577RCV004995694
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
 rs_899337697

2 SubmittersRCV001344238RCV002357186
NM_022356.4(P3H1):c.1170+5G>C SNV
Germline		 Chr1:42755543 Pathogenic Osteogenesis imperfecta type 8
P3H1-related disorder		 Criteria Provided
Single Submitter
 rs_72659353

2 SubmittersRCV001371301RCV003405619
NM_000089.4(COL1A2):c.1439T>C (p.Ile480Thr) SNV
Germline		 Chr7:94412618 Conflicting classifications of pathogenicity Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_568201784

2 SubmittersRCV002242521RCV004720868
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		 Criteria Provided
Conflicting Classifications
 rs_141011435

3 SubmittersRCV001365637RCV001762634RCV004738271
NM_000088.4(COL1A1):c.3975G>T (p.Trp1325Cys) SNV
Germline		 Chr17:50186347 Likely pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter
 rs_2144534276

1 SubmittersRCV001373665
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
 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
 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
 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
 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
 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
 rs_1652551021

6 SubmittersRCV001390265RCV003394025RCV003154031
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
 rs_67675951

1 SubmittersRCV002242820
NM_000089.4(COL1A2):c.857G>C (p.Gly286Ala) SNV
Germline		 Chr7:94409386 Pathogenic/Likely pathogenic Osteogenesis imperfecta
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_67210352

2 SubmittersRCV002225133RCV002242821
NM_000089.4(COL1A2):c.1045G>A (p.Gly349Ser) SNV
Germline		 Chr7:94410251 Pathogenic Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1		 Criteria Provided
Single Submitter
 rs_66773001

1 SubmittersRCV002242822
NM_000089.4(COL1A2):c.1981G>T (p.Gly661Cys) SNV
Germline		 Chr7:94418508 Pathogenic Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1		 Criteria Provided
Single Submitter
 rs_72658152

1 SubmittersRCV002242823
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
 rs_72658174

1 SubmittersRCV002242992
NM_000089.4(COL1A2):c.2413G>T (p.Gly805Cys) SNV
Germline		 Chr7:94422966 Pathogenic Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1		 Criteria Provided
Single Submitter
 rs_72658190

1 SubmittersRCV002242851
NM_000089.4(COL1A2):c.2755G>A (p.Gly919Ser) SNV
Germline		 Chr7:94425198 Pathogenic/Likely pathogenic Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
Condition: not provided
Cardiovascular phenotype
Osteogenesis imperfecta
Ehlers-Danlos syndrome, cardiac valvular type
Ehlers-Danlos syndrome, arthrochalasia type
COL1A2-related disorder
Osteogenesis imperfecta, perinatal lethal
Osteogenesis imperfecta type III
Osteogenesis imperfecta with normal sclerae, dominant form		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_749621872

6 SubmittersRCV002242882RCV002307738RCV002438886RCV002508960RCV004743444RCV004796620
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
 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
 rs_2144534686

2 SubmittersRCV001387168RCV004699359
NM_000088.4(COL1A1):c.3569G>A (p.Gly1190Asp) SNV
Germline		 Chr17:50186885 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter
 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
 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
 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
 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
 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
 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
 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
 rs_68114505

4 SubmittersRCV001385148RCV002250757RCV003332338
NM_000088.4(COL1A1):c.1981C>T (p.Gln661Ter) SNV
Germline		 Chr17:50192477 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter
 rs_72651631

1 SubmittersRCV001385149
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
 rs_72651615

2 SubmittersRCV001387610RCV002283548
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
 rs_72648357

2 SubmittersRCV001387571RCV001526509
NM_000088.4(COL1A1):c.1003G>A (p.Gly335Ser) SNV
Germline		 Chr17:50195976 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter
 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
 rs_72645355

4 SubmittersRCV001388662RCV001664862RCV001542694
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
 rs_72645352

3 SubmittersRCV001385345RCV004770137
NM_000088.4(COL1A1):c.814G>A (p.Gly272Ser) SNV
Germline		 Chr17:50196661 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter
 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
 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
 rs_2144587073

2 SubmittersRCV001386077RCV001563408
NM_000089.4(COL1A2):c.2674-6G>C SNV
Germline		 Chr7:94425111 Conflicting classifications of pathogenicity Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
not specified		 Criteria Provided
Conflicting Classifications
 rs_771442891

2 SubmittersRCV002243120RCV003490244
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
 rs_61740517

4 SubmittersRCV001417575RCV002276729RCV002499896RCV004743468
NM_000089.4(COL1A2):c.3233G>A (p.Gly1078Asp) SNV
Germline		 Chr7:94427261 Pathogenic Dentinogenesis imperfecta
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1		 Criteria Provided
Single Submitter
 rs_72659332

2 SubmittersRCV001779169RCV001882531
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
 rs_760151423

2 SubmittersRCV001440604RCV002276735
NM_002335.4(LRP5):c.2829G>A (p.Pro943=) SNV
Germline		 Chr11:68416329 Conflicting classifications of pathogenicity Condition: not provided
Osteogenesis imperfecta		 Criteria Provided
Conflicting Classifications
 rs_201018263

5 SubmittersRCV001430997RCV002276734
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
 rs_756825499

2 SubmittersRCV001427082RCV002276733
NM_006854.4(KDELR2):c.13C>T (p.Arg5Trp) SNV
Germline		 Chr7:6484045 Pathogenic Osteogenesis imperfecta, type 21 No Assertion Criteria Provided
 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
 rs_1785499146

1 SubmittersRCV001449583
NM_000089.4(COL1A2):c.1113T>C (p.Pro371=) SNV
Germline		 Chr7:94410443 Conflicting classifications of pathogenicity Condition: not provided
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
Ehlers-Danlos syndrome
Cardiovascular phenotype		 Criteria Provided
Conflicting Classifications
 rs_547506739

4 SubmittersRCV001581134RCV002237182RCV002276738RCV002439063
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
 rs_142508112

4 SubmittersRCV001473951RCV002276745RCV004988646
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
 rs_201030241

2 SubmittersRCV001482361RCV002276746
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
 rs_569517144

7 SubmittersRCV001519114RCV002276755RCV002501818RCV003908857
NM_021939.4(FKBP10):c.391+4A>T SNV
Germline		 Chr17:41817207 Likely pathogenic Osteogenesis imperfecta type 11 Criteria Provided
Single Submitter
 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
 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
 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
 rs_148154047

4 SubmittersRCV001553544RCV002276781
NM_002615.7(SERPINF1):c.998-1G>A SNV
Germline		 Chr17:1777186 Likely pathogenic Osteogenesis imperfecta Criteria Provided
Single Submitter
 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
 rs_201599168

2 SubmittersRCV001558901RCV002276787
NM_000088.4(COL1A1):c.3656A>G (p.Asp1219Gly) SNV
Germline		 Chr17:50186798 Likely pathogenic Condition: not provided
Osteogenesis imperfecta type I		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2144537008

2 SubmittersRCV001554917RCV002032604
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
 rs_72645339

2 SubmittersRCV001554895RCV002032603
NM_000088.4(COL1A1):c.1694C>T (p.Pro565Leu) SNV
Germline		 Chr17:50194016 Conflicting classifications of pathogenicity Condition: not provided
Osteogenesis imperfecta type I		 Criteria Provided
Conflicting Classifications
 rs_764989002

2 SubmittersRCV001561842RCV001859393
NM_000089.4(COL1A2):c.792G>A (p.Lys264=) SNV
Germline		 Chr7:94408823 Pathogenic Condition: not provided
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2115890442

2 SubmittersRCV001565416RCV003771724
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
COL1A1-related disorder		 Criteria Provided
Conflicting Classifications
 rs_749946056

5 SubmittersRCV001569333RCV002072194RCV001839049RCV002458536RCV004551921
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
 rs_2144543339

2 SubmittersRCV001583097RCV002290726
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
 rs_528349466

2 SubmittersRCV001584725RCV002569111
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		 Criteria Provided
Conflicting Classifications
 rs_371672410

6 SubmittersRCV001586557RCV002276822RCV003416401RCV002569120
NM_006129.5(BMP1):c.239G>A (p.Arg80His) SNV
Germline		 Chr8:22173692 Conflicting classifications of pathogenicity Condition: not provided
not specified
Inborn genetic diseases
Osteogenesis imperfecta		 Criteria Provided
Conflicting Classifications
 rs_73549580

5 SubmittersRCV001593893RCV001844303RCV002579483RCV002276834
NM_000089.4(COL1A2):c.2206G>T (p.Gly736Cys) SNV
Germline		 Chr7:94420559 Pathogenic Condition: not provided
Osteogenesis imperfecta
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_72658173

3 SubmittersRCV001596536RCV002222719RCV001882741
NM_000089.4(COL1A2):c.1774G>A (p.Gly592Ser) SNV
Germline		 Chr7:94416414 Pathogenic Condition: not provided
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_72658141

4 SubmittersRCV001596844RCV001866248
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
 rs_72656341

2 SubmittersRCV001596868RCV001866249
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
 rs_1554397133

2 SubmittersRCV001596905RCV003883697
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
 rs_72659306

2 SubmittersRCV001596918RCV002243318
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
 rs_2115941300

2 SubmittersRCV001597497RCV004595622
NM_001199.4(BMP1):c.2191T>C (p.Ter731Arg) SNV
Germline		 Chr8:22201201 Likely pathogenic Osteogenesis imperfecta type 13 Criteria Provided
Single Submitter
 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
 rs_748149807

5 SubmittersRCV001665197RCV001873827RCV004039550
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
 rs_2144576822

3 SubmittersRCV001658929RCV001882757RCV002495986
NM_001025295.3(IFITM5):c.-3C>T SNV
Germline		 Chr11:299493 Conflicting classifications of pathogenicity Osteogenesis imperfecta
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_1362690516

2 SubmittersRCV002276859RCV001682152
NM_006129.5(BMP1):c.965G>A (p.Cys322Tyr) SNV
Germline		 Chr8:22180371 Likely pathogenic Osteogenesis imperfecta type 13 Criteria Provided
Single Submitter
 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
 rs_2125596197

1 SubmittersRCV002073407
NM_002615.7(SERPINF1):c.278C>A (p.Ser93Ter) SNV
Germline		 Chr17:1770045 Pathogenic Osteogenesis imperfecta type 6
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_369973630

2 SubmittersRCV002073408RCV002032701
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
 rs_763291398

2 SubmittersRCV001728120RCV003718420
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
 rs_201882609

3 SubmittersRCV001728180RCV002073410RCV002276872
NM_005430.4(WNT1):c.617G>A (p.Gly206Asp) SNV
Unknown		 Chr12:48980682 Likely pathogenic Osteogenesis imperfecta type 15 Criteria Provided
Single Submitter
 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
 rs_137997656

4 SubmittersRCV001733381RCV001803392RCV002073981
NM_000089.4(COL1A2):c.3676G>A (p.Val1226Ile) SNV
Germline		 Chr7:94428442 Conflicting classifications of pathogenicity Condition: not provided
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
COL1A2-related disorder
Cardiovascular phenotype		 Criteria Provided
Conflicting Classifications
 rs_777501717

4 SubmittersRCV001733430RCV002538720RCV004743567RCV004995980
NM_000089.4(COL1A2):c.2621G>C (p.Gly874Ala) SNV
Germline		 Chr7:94424391 Likely pathogenic Osteogenesis imperfecta with normal sclerae, dominant form Criteria Provided
Single Submitter
 rs_2115946490

1 SubmittersRCV001733874
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
 rs_1268011878

2 SubmittersRCV001762784RCV003631215
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
 rs_72648359

3 SubmittersRCV001756582RCV002032772RCV003365443
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
 rs_374947065

2 SubmittersRCV001762945RCV002032784
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
 rs_749024135

2 SubmittersRCV001770806RCV001882872
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
 rs_777150332

2 SubmittersRCV001768806RCV003631216
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
 rs_202221716

2 SubmittersRCV001754861RCV001868436
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
 rs_2144532190

2 SubmittersRCV001761356RCV001868544
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
 rs_138749826

2 SubmittersRCV001774467RCV001868578
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
 rs_779002822

3 SubmittersRCV001771284RCV001868612RCV002425057
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
 rs_72658168

2 SubmittersRCV001766007RCV003772048
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
 rs_1199013401

2 SubmittersRCV001773212RCV002540579
NM_000088.4(COL1A1):c.1532G>A (p.Arg511His) SNV
Germline		 Chr17:50194431 Conflicting classifications of pathogenicity Condition: not provided
Osteogenesis imperfecta type I		 Criteria Provided
Conflicting Classifications
 rs_780422688

3 SubmittersRCV001774794RCV002272492
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
 rs_72658106

2 SubmittersRCV001775390RCV004699468
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
 rs_2144594178

2 SubmittersRCV001780529RCV003631225
NM_000088.4(COL1A1):c.1155+1G>C SNV
Germline		 Chr17:50195566 Pathogenic/Likely pathogenic Condition: not provided
Osteogenesis imperfecta
Osteogenesis imperfecta type I		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_72648315

3 SubmittersRCV001780530RCV003985853RCV003517348
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
 rs_2144571189

2 SubmittersRCV001780535RCV001810323
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
 rs_1179429999

3 SubmittersRCV001785068RCV001885170
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
 rs_2144542715

2 SubmittersRCV001780809RCV001836654
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
 rs_2144588841

2 SubmittersRCV001780810RCV003517350
NM_022356.4(P3H1):c.1531G>T (p.Glu511Ter) SNV
Germline		 Chr1:42752312 Pathogenic Osteogenesis imperfecta type 8 Criteria Provided
Single Submitter
 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
 rs_757634052

1 SubmittersRCV003820402
NM_000089.4(COL1A2):c.2225G>A (p.Gly742Glu) SNV
Germline		 Chr7:94420578 Pathogenic/Likely pathogenic Condition: not provided
Osteogenesis imperfecta		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2115931969

2 SubmittersRCV001786163RCV001794519
NM_018112.3(TMEM38B):c.300A>G (p.Leu100=) SNV
Germline		 Chr9:105721567 Conflicting classifications of pathogenicity Condition: not provided
Osteogenesis imperfecta		 Criteria Provided
Conflicting Classifications
 rs_201768590

3 SubmittersRCV001787579RCV002276896
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
 rs_2144547622

2 SubmittersRCV001795867RCV001868894
NM_000088.4(COL1A1):c.2668-2A>G SNV
Unknown		 Chr17:50189540 Likely pathogenic Osteogenesis imperfecta Criteria Provided
Single Submitter
 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		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2115954840

2 SubmittersRCV001795872RCV003416459
NM_002615.7(SERPINF1):c.787-617G>A SNV
Germline		 Chr17:1775915 Likely pathogenic Osteogenesis imperfecta Criteria Provided
Single Submitter
 rs_2151212328

1 SubmittersRCV001797900
NM_000158.4(GBE1):c.1843G>C (p.Ala615Pro) SNV
Germline		 Chr3:81535286 Likely pathogenic Osteogenesis imperfecta type 15 Criteria Provided
Single Submitter
 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
 rs_1201602830

1 SubmittersRCV001806327RCV002227560
NM_000088.4(COL1A1):c.4166T>C (p.Leu1389Pro) SNV
Germline		 Chr17:50185860 Likely pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter
 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
 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
 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
 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
 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
 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
 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
 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
 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
 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
 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
 rs_72667028

3 SubmittersRCV001823557RCV002264392
NM_000088.4(COL1A1):c.643-1G>A SNV
Germline		 Chr17:50197786 Likely pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter
 rs_2144586155

1 SubmittersRCV001823795
NM_000088.4(COL1A1):c.4189G>T (p.Glu1397Ter) SNV
Germline		 Chr17:50185837 Pathogenic Osteogenesis imperfecta Criteria Provided
Single Submitter
 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
 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
 rs_72653142

2 SubmittersRCV001836665RCV004552047
NM_000089.4(COL1A2):c.279+3A>C SNV
Germline		 Chr7:94401623 Likely pathogenic Osteogenesis imperfecta, perinatal lethal Criteria Provided
Single Submitter
 rs_762201938

1 SubmittersRCV001836672
NM_000089.4(COL1A2):c.2711G>A (p.Gly904Glu) SNV
Germline		 Chr7:94425154 Likely pathogenic Osteogenesis imperfecta, perinatal lethal Criteria Provided
Single Submitter
 rs_775246283

1 SubmittersRCV001836673
NM_000089.4(COL1A2):c.2701G>A (p.Gly901Ser) SNV
Germline		 Chr7:94425144 Pathogenic/Likely pathogenic Condition: not provided
Ehlers-Danlos syndrome
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_72659306

4 SubmittersRCV001843974RCV002276905RCV002543291
NM_000088.4(COL1A1):c.3064G>T (p.Gly1022Cys) SNV
Germline		 Chr17:50188777 Pathogenic Osteogenesis imperfecta type III No Assertion Criteria Provided

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
 rs_375823086

3 SubmittersRCV001946395RCV002276945RCV004694009
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
 rs_2144588841

2 SubmittersRCV001887796RCV004584928
NM_000089.4(COL1A2):c.792G>C (p.Lys264Asn) SNV
Germline		 Chr7:94408823 Likely pathogenic Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I		 Criteria Provided
Single Submitter
 rs_2115890442

1 SubmittersRCV002024171
NM_022356.4(P3H1):c.1345+1G>A SNV
Germline		 Chr1:42754868 Likely pathogenic Osteogenesis imperfecta type 8 Criteria Provided
Single Submitter
 rs_780595278

1 SubmittersRCV002024402
NM_000088.4(COL1A1):c.1728G>A (p.Gln576=) SNV
Germline		 Chr17:50193982 Conflicting classifications of pathogenicity Osteogenesis imperfecta type I
Cardiovascular phenotype		 Criteria Provided
Conflicting Classifications
 rs_1410003274

2 SubmittersRCV002046407RCV003365670
NM_000088.4(COL1A1):c.3469G>A (p.Gly1157Ser) SNV
Germline		 Chr17:50187077 Likely pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter
 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
 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
 rs_72648314

1 SubmittersRCV001891568
NM_000089.4(COL1A2):c.2036G>C (p.Gly679Ala) SNV
Germline		 Chr7:94419508 Likely pathogenic Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I		 Criteria Provided
Single Submitter
 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
 rs_2144580035

1 SubmittersRCV002046149
NM_000089.4(COL1A2):c.1874G>C (p.Gly625Ala) SNV
Germline		 Chr7:94417734 Likely pathogenic Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I		 Criteria Provided
Single Submitter
 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
 rs_762848021

2 SubmittersRCV001904765RCV002292673
NM_000088.4(COL1A1):c.1200+2T>A SNV
Germline		 Chr17:50195432 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter
 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
 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
 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
 rs_762809403

3 SubmittersRCV002015198RCV003738124RCV004990548
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
 rs_372159426

3 SubmittersRCV001920830RCV002276929RCV004693955
NM_000089.4(COL1A2):c.2314G>C (p.Gly772Arg) SNV
Germline		 Chr7:94421027 Likely pathogenic Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I
Osteogenesis imperfecta type III		 Criteria Provided
Single Submitter
 rs_72658185

2 SubmittersRCV001961344RCV002469444
NM_000088.4(COL1A1):c.625G>A (p.Gly209Ser) SNV
Germline		 Chr17:50197966 Likely pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter
 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		 Criteria Provided
Conflicting Classifications
 rs_751784955

2 SubmittersRCV001886721RCV003156356
NM_000088.4(COL1A1):c.2451T>C (p.Pro817=) SNV
Germline		 Chr17:50190327 Conflicting classifications of pathogenicity Osteogenesis imperfecta type I
Cardiovascular phenotype
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_374465457

3 SubmittersRCV001995170RCV004044708RCV003426271
NM_000089.4(COL1A2):c.505G>A (p.Gly169Arg) SNV
Germline		 Chr7:94405691 Likely pathogenic Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1		 Criteria Provided
Single Submitter
 rs_2115879081

1 SubmittersRCV002019618
NM_022356.4(P3H1):c.652G>T (p.Glu218Ter) SNV
Germline		 Chr1:42759357 Pathogenic Osteogenesis imperfecta type 8 Criteria Provided
Single Submitter
 rs_2124142972

1 SubmittersRCV001933024
NM_000089.4(COL1A2):c.1010G>C (p.Gly337Ala) SNV
Germline		 Chr7:94409796 Pathogenic Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1		 Criteria Provided
Single Submitter
 rs_2115894285

1 SubmittersRCV001933055
NM_000089.4(COL1A2):c.1045G>C (p.Gly349Arg) SNV
Germline		 Chr7:94410251 Pathogenic Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1		 Criteria Provided
Single Submitter
 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
 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
 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
 rs_2115933783

2 SubmittersRCV002031537RCV004793716
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
 rs_368295399

2 SubmittersRCV001907566RCV002361107
NM_000088.4(COL1A1):c.979G>T (p.Ala327Ser) SNV
Germline		 Chr17:50196178 Conflicting classifications of pathogenicity Osteogenesis imperfecta type I
Osteogenesis imperfecta		 Criteria Provided
Conflicting Classifications
 rs_769106952

2 SubmittersRCV001886901RCV002276923
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
 rs_2115896730

1 SubmittersRCV001958562
NM_000089.4(COL1A2):c.605G>T (p.Gly202Val) SNV
Germline		 Chr7:94407857 Likely pathogenic Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I		 Criteria Provided
Single Submitter
 rs_72656377

1 SubmittersRCV001970920
NM_000089.4(COL1A2):c.69A>G (p.Gln23=) SNV
Germline		 Chr7:94395100 Conflicting classifications of pathogenicity Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
Cardiovascular phenotype		 Criteria Provided
Conflicting Classifications
 rs_770754442

2 SubmittersRCV001952322RCV002361241
NM_000089.4(COL1A2):c.2080G>A (p.Gly694Ser) SNV
Germline		 Chr7:94420233 Likely pathogenic Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1		 Criteria Provided
Single Submitter
 rs_121912908

1 SubmittersRCV002050651
NM_000088.4(COL1A1):c.399C>T (p.Gly133=) SNV
Germline		 Chr17:50199298 Conflicting classifications of pathogenicity Osteogenesis imperfecta type I
Cardiovascular phenotype		 Criteria Provided
Conflicting Classifications
 rs_775246452

2 SubmittersRCV001967483RCV004612011
NM_000089.4(COL1A2):c.1892G>A (p.Gly631Asp) SNV
Germline		 Chr7:94417752 Pathogenic Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1584324507

2 SubmittersRCV001953739RCV003236914
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
 rs_2144563717

2 SubmittersRCV001953757RCV002307816
NM_000478.6(ALPL):c.980T>G (p.Phe327Cys) SNV
Germline		 Chr1:21573782 Pathogenic/Likely pathogenic Condition: not provided
Osteogenesis imperfecta
Adult hypophosphatasia		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_779832611

4 SubmittersRCV001972665RCV002276955RCV003475237
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		 Criteria Provided
Conflicting Classifications
 rs_200621180

5 SubmittersRCV001973364RCV002276963RCV002479619RCV003464338
NM_000089.4(COL1A2):c.2323G>C (p.Gly775Arg) SNV
Germline		 Chr7:94421036 Pathogenic Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1		 Criteria Provided
Single Submitter
 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
 rs_764355552

1 SubmittersRCV001982827
NM_000089.4(COL1A2):c.3350A>G (p.Tyr1117Cys) SNV
Germline		 Chr7:94427709 Likely pathogenic Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I		 Criteria Provided
Single Submitter
 rs_2115959866

1 SubmittersRCV001977185
NM_000942.5(PPIB):c.509G>A (p.Gly170Asp) SNV
Germline		 Chr15:64156744 Conflicting classifications of pathogenicity Condition: not provided
Osteogenesis imperfecta		 Criteria Provided
Conflicting Classifications
 rs_199606428

2 SubmittersRCV001912518RCV003331224
NM_000088.4(COL1A1):c.1588G>T (p.Gly530Cys) SNV
Germline		 Chr17:50194375 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter
 rs_67682641

1 SubmittersRCV001914424
NM_000089.4(COL1A2):c.515G>T (p.Gly172Val) SNV
Germline		 Chr7:94405701 Likely pathogenic Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I		 Criteria Provided
Single Submitter
 rs_768263997

1 SubmittersRCV001973919
NM_000089.4(COL1A2):c.3359A>G (p.Asp1120Gly) SNV
Germline		 Chr7:94427718 Pathogenic Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1		 Criteria Provided
Single Submitter
 rs_2115959926

1 SubmittersRCV001932458
NM_000089.4(COL1A2):c.2431G>A (p.Gly811Ser) SNV
Germline		 Chr7:94422984 Pathogenic Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I		 Criteria Provided
Single Submitter
 rs_2115940948

1 SubmittersRCV001901796
NM_000088.4(COL1A1):c.345A>T (p.Gly115=) SNV
Germline		 Chr17:50199442 Conflicting classifications of pathogenicity Osteogenesis imperfecta type I
Cardiovascular phenotype		 Criteria Provided
Conflicting Classifications
 rs_1907874908

2 SubmittersRCV001903432RCV002458773
NM_022356.4(P3H1):c.765C>A (p.Tyr255Ter) SNV
Germline		 Chr1:42759244 Pathogenic Osteogenesis imperfecta type 8 Criteria Provided
Single Submitter
 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
 rs_2144535840

1 SubmittersRCV001958947
NM_000088.4(COL1A1):c.1471G>A (p.Gly491Ser) SNV
Germline		 Chr17:50194617 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter
 rs_72648348

1 SubmittersRCV001942481
NM_000089.4(COL1A2):c.2953G>A (p.Gly985Ser) SNV
Germline		 Chr7:94426007 Likely pathogenic Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I		 Criteria Provided
Single Submitter
 rs_2115953343

1 SubmittersRCV001969697
NM_000089.4(COL1A2):c.1404C>T (p.Val468=) SNV
Germline		 Chr7:94412121 Conflicting classifications of pathogenicity Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
Cardiovascular phenotype		 Criteria Provided
Conflicting Classifications
 rs_773852385

2 SubmittersRCV001919629RCV002388849
NM_006371.5(CRTAP):c.794-2A>G SNV
Germline		 Chr3:33129937 Likely pathogenic Osteogenesis imperfecta type 7 Criteria Provided
Single Submitter
 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
COL1A1-related disorder
Condition: not provided
Cardiovascular phenotype		 Criteria Provided
Conflicting Classifications
 rs_774001209

4 SubmittersRCV001921352RCV004552115RCV003235624RCV003382730
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
 rs_967535162

2 SubmittersRCV001997482RCV002276950
NM_000089.4(COL1A2):c.280-2A>G SNV
Germline		 Chr7:94404554 Likely pathogenic Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I		 Criteria Provided
Single Submitter
 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
 rs_941273260

4 SubmittersRCV001935497RCV002331431RCV003332359RCV004552100
NM_000088.4(COL1A1):c.1778G>C (p.Gly593Ala) SNV
Germline		 Chr17:50193037 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter
 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
 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
 rs_769619568

2 SubmittersRCV001977069RCV004045270
NM_000089.4(COL1A2):c.2360G>C (p.Gly787Ala) SNV
Germline		 Chr7:94421909 Pathogenic Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1		 Criteria Provided
Single Submitter
 rs_2115936945

1 SubmittersRCV002047662
NM_000088.4(COL1A1):c.1930-2A>G SNV
Germline		 Chr17:50192530 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter
 rs_2144563277

1 SubmittersRCV001874335
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
 rs_72648325

2 SubmittersRCV001867384RCV003339774
NM_000088.4(COL1A1):c.788G>A (p.Gly263Glu) SNV
Germline		 Chr17:50197026 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter
 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
 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
 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
 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
 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
 rs_1300239598

2 SubmittersRCV001976689RCV002276970
NM_000088.4(COL1A1):c.333G>A (p.Glu111=) SNV
Germline		 Chr17:50199556 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter
 rs_2857400

1 SubmittersRCV002000147
NM_000089.4(COL1A2):c.454C>T (p.Arg152Ter) SNV
Germline		 Chr7:94405220 Pathogenic Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I		 Criteria Provided
Single Submitter
 rs_1791771616

1 SubmittersRCV001993149
NM_000089.4(COL1A2):c.3971G>A (p.Trp1324Ter) SNV
Germline		 Chr7:94430263 Likely pathogenic Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1		 Criteria Provided
Single Submitter
 rs_2115969692

2 SubmittersRCV002291005RCV001922511
NM_000088.4(COL1A1):c.3G>T (p.Met1Ile) SNV
Germline		 Chr17:50201511 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter
 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
 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		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1598299070

2 SubmittersRCV001890294RCV002250781
NM_002335.4(LRP5):c.3122C>T (p.Thr1041Met) SNV
Germline		 Chr11:68423583 Conflicting classifications of pathogenicity Condition: not provided
Osteogenesis imperfecta		 Criteria Provided
Conflicting Classifications
 rs_1311935185

2 SubmittersRCV002004821RCV002276951
NM_006371.5(CRTAP):c.172G>T (p.Glu58Ter) SNV
Germline		 Chr3:33114249 Pathogenic Osteogenesis imperfecta type 7 Criteria Provided
Single Submitter
 rs_769484595

1 SubmittersRCV002007475
NM_000089.4(COL1A2):c.3277G>C (p.Gly1093Arg) SNV
Germline		 Chr7:94427636 Pathogenic Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I		 Criteria Provided
Single Submitter
 rs_2115959456

1 SubmittersRCV001993390
NM_000088.4(COL1A1):c.3207+2T>C SNV
Germline		 Chr17:50188528 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter
 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
 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
 rs_72667025

2 SubmittersRCV001994477RCV002276952
NM_022356.4(P3H1):c.941-1G>A SNV
Germline		 Chr1:42757923 Likely pathogenic Osteogenesis imperfecta type 8 Criteria Provided
Single Submitter
 rs_778209371

1 SubmittersRCV001990923
NM_000089.4(COL1A2):c.2449G>T (p.Gly817Trp) SNV
Germline		 Chr7:94423002 Likely pathogenic Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I		 Criteria Provided
Single Submitter
 rs_2115941022

1 SubmittersRCV002016120
NM_000088.4(COL1A1):c.626G>A (p.Gly209Asp) SNV
Germline		 Chr17:50197965 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter
 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
 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
 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
 rs_1405064021

3 SubmittersRCV002011676RCV004699646
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
 rs_759477389

2 SubmittersRCV002034952RCV004996024
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
 rs_66929517

2 SubmittersRCV001918022RCV004552092
NM_000088.4(COL1A1):c.2552G>C (p.Gly851Ala) SNV
Germline		 Chr17:50190008 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter
 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 with normal sclerae, dominant form
Osteogenesis imperfecta, perinatal lethal
Osteogenesis imperfecta type III		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_72658179

2 SubmittersRCV001941895RCV002243493
NM_000088.4(COL1A1):c.370-1G>A SNV
Germline		 Chr17:50199328 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter
 rs_2144591532

1 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
 rs_112423184

2 SubmittersRCV002011368
NM_000088.4(COL1A1):c.4343G>A (p.Gly1448Asp) SNV
Germline		 Chr17:50185554 Likely pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter
 rs_2144529623

1 SubmittersRCV001989180
NM_000089.4(COL1A2):c.693+1G>C SNV
Germline		 Chr7:94408237 Pathogenic Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I		 Criteria Provided
Single Submitter
 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
 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
 rs_1114167394

1 SubmittersRCV001879067
NM_000089.4(COL1A2):c.1423G>A (p.Gly475Ser) SNV
Germline		 Chr7:94412602 Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome
Condition: not provided
Cardiovascular phenotype		 Criteria Provided
Conflicting Classifications
 rs_755058199

4 SubmittersRCV001915322RCV003230710RCV003328686RCV004996080
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
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_369283493

4 SubmittersRCV001950041RCV002276940RCV004612010RCV004793620
NM_000088.4(COL1A1):c.471+5G>A SNV
Germline		 Chr17:50199221 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter
 rs_1555575015

1 SubmittersRCV002030041
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
 rs_1555574493

2 SubmittersRCV001946807RCV004720990
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
 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
 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
 rs_72658142

1 SubmittersRCV002003093
NM_000088.4(COL1A1):c.805-1G>C SNV
Germline		 Chr17:50196671 Likely pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter
 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
 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
 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
 rs_2144561474

1 SubmittersRCV001971974
NM_000088.4(COL1A1):c.1876-2A>G SNV
Germline		 Chr17:50192695 Pathogenic Osteogenesis imperfecta type I
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_67891210

2 SubmittersRCV001952620RCV004699566
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
 rs_141726413

2 SubmittersRCV001971992RCV004762260
NM_000088.4(COL1A1):c.3262-1G>A SNV
Germline		 Chr17:50187984 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter
 rs_2144542880

1 SubmittersRCV001974991
NM_022356.4(P3H1):c.1915-1G>A SNV
Germline		 Chr1:42747413 Likely pathogenic Osteogenesis imperfecta type 8 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2124077667

3 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
 rs_771918127

2 SubmittersRCV001909153RCV002265043
NM_000088.4(COL1A1):c.804+1G>A SNV
Germline		 Chr17:50197009 Pathogenic Osteogenesis imperfecta type I
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1057518930

2 SubmittersRCV001972748RCV004793656
NM_000088.4(COL1A1):c.1A>C (p.Met1Leu) SNV
Germline		 Chr17:50201513 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter
 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
 rs_2144586064

1 SubmittersRCV001972783
NM_000088.4(COL1A1):c.2489G>A (p.Gly830Asp) SNV
Germline		 Chr17:50190071 Likely pathogenic Osteogenesis imperfecta type I
Osteogenesis imperfecta		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1906940342

2 SubmittersRCV002008660RCV002276975
NM_000089.4(COL1A2):c.594+1G>T SNV
Germline		 Chr7:94406304 Pathogenic/Likely pathogenic Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2115881240

2 SubmittersRCV001920858RCV003136301
NM_000088.4(COL1A1):c.652G>T (p.Gly218Cys) SNV
Germline		 Chr17:50197776 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter
 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
 rs_2115875700

1 SubmittersRCV001953547
NM_000089.4(COL1A2):c.605G>A (p.Gly202Asp) SNV
Germline		 Chr7:94407857 Pathogenic Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1		 Criteria Provided
Single Submitter
 rs_72656377

1 SubmittersRCV001972528
NM_000089.4(COL1A2):c.693+2T>C SNV
Germline		 Chr7:94408238 Pathogenic Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1		 Criteria Provided
Single Submitter
 rs_66516450

1 SubmittersRCV001953550
NM_000089.4(COL1A2):c.794G>T (p.Gly265Val) SNV
Germline		 Chr7:94409323 Pathogenic/Likely pathogenic Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
COL1A2-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_72656386

2 SubmittersRCV001953647RCV003401970
NM_000089.4(COL1A2):c.830G>C (p.Gly277Ala) SNV
Germline		 Chr7:94409359 Pathogenic Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_752431578

2 SubmittersRCV002046789RCV002466705
NM_000089.4(COL1A2):c.1793G>C (p.Gly598Ala) SNV
Germline		 Chr7:94416433 Likely pathogenic Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_72658142

2 SubmittersRCV002046893RCV003107863
NM_022356.4(P3H1):c.1223+2T>C SNV
Germline		 Chr1:42755163 Pathogenic Osteogenesis imperfecta type 8 Criteria Provided
Single Submitter
 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
 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
 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
 rs_2115921786

1 SubmittersRCV001941280
NM_000089.4(COL1A2):c.632G>A (p.Gly211Asp) SNV
Germline		 Chr7:94407884 Pathogenic Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
COL1A2-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_72656378

2 SubmittersRCV001959021RCV003418259
NM_000089.4(COL1A2):c.1532G>A (p.Gly511Asp) SNV
Germline		 Chr7:94413111 Pathogenic Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1		 Criteria Provided
Single Submitter
 rs_66999265

1 SubmittersRCV001975235
NM_000089.4(COL1A2):c.2018G>A (p.Gly673Asp) SNV
Germline		 Chr7:94418545 Pathogenic Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1		 Criteria Provided
Single Submitter
 rs_2115924495

1 SubmittersRCV001959025
NM_000088.4(COL1A1):c.333+1G>A SNV
Germline		 Chr17:50199555 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter
 rs_2144592402

1 SubmittersRCV001891906
NM_000089.4(COL1A2):c.3583T>C (p.Cys1195Arg) SNV
Germline		 Chr7:94428349 Pathogenic/Likely pathogenic Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta with normal sclerae, dominant form
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2115962248

3 SubmittersRCV002010354RCV002259408RCV002290832
NM_022356.4(P3H1):c.2055+1G>A SNV
Germline		 Chr1:42747271 Pathogenic Osteogenesis imperfecta type 8 Criteria Provided
Single Submitter
 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
 rs_1484351533

2 SubmittersRCV001985041RCV002265049
NM_000089.4(COL1A2):c.2565+2T>A SNV
Germline		 Chr7:94423120 Pathogenic Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1		 Criteria Provided
Single Submitter
 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
 rs_748550422

1 SubmittersRCV001956530
NM_000089.4(COL1A2):c.2675G>A (p.Gly892Asp) SNV
Germline		 Chr7:94425118 Pathogenic Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1		 Criteria Provided
Single Submitter
 rs_72659304

1 SubmittersRCV001958727
NM_000089.4(COL1A2):c.1757G>C (p.Gly586Ala) SNV
Germline		 Chr7:94415263 Pathogenic Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I		 Criteria Provided
Single Submitter
 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
 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
 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
 rs_72651632

1 SubmittersRCV001987245
NM_000089.4(COL1A2):c.1441G>C (p.Gly481Arg) SNV
Germline		 Chr7:94412620 Pathogenic Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1		 Criteria Provided
Single Submitter
 rs_72658120

1 SubmittersRCV001914173
NM_000089.4(COL1A2):c.3152G>C (p.Gly1051Ala) SNV
Germline		 Chr7:94427054 Likely pathogenic Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I		 Criteria Provided
Single Submitter
 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
 rs_2144548099

1 SubmittersRCV002010948
NM_000089.4(COL1A2):c.1873G>T (p.Gly625Cys) SNV
Germline		 Chr7:94417733 Pathogenic/Likely pathogenic Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
See cases
Osteogenesis imperfecta, perinatal lethal
Osteogenesis imperfecta type III		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_193922162

4 SubmittersRCV002033708RCV004584457RCV004785437RCV004770347
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
 rs_2144569036

2 SubmittersRCV001886252RCV003482381
NM_000089.4(COL1A2):c.3358G>A (p.Asp1120Asn) SNV
Germline		 Chr7:94427717 Pathogenic/Likely pathogenic Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2115959912

2 SubmittersRCV001886325RCV004793562
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
 rs_72667030

2 SubmittersRCV001888079RCV003136207
NM_000088.4(COL1A1):c.298+1G>A SNV
Germline		 Chr17:50199752 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter
 rs_2144593670

1 SubmittersRCV001983866
NM_000088.4(COL1A1):c.931G>C (p.Gly311Arg) SNV
Germline		 Chr17:50196340 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter
 rs_72645345

1 SubmittersRCV001916472
NM_000089.4(COL1A2):c.2777G>A (p.Arg926His) SNV
Germline		 Chr7:94425220 Conflicting classifications of pathogenicity Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
not specified		 Criteria Provided
Conflicting Classifications
 rs_200331961

2 SubmittersRCV001983960RCV003479387
NM_000089.4(COL1A2):c.324+15C>T SNV
Germline		 Chr7:94404615 Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_371250316

2 SubmittersRCV002038510RCV002284510
NM_000088.4(COL1A1):c.680G>A (p.Gly227Glu) SNV
Germline		 Chr17:50197748 Likely pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter
 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
 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		 Criteria Provided
Conflicting Classifications
 rs_115997082

2 SubmittersRCV002118307RCV003161592
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
 rs_377456488

3 SubmittersRCV002166784RCV002276995RCV003923449
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
 rs_2144555296

2 SubmittersRCV002163344RCV004763336
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
 rs_369792296

2 SubmittersRCV002103148RCV002277016
NM_000088.4(COL1A1):c.3000G>C (p.Met1000Ile) SNV
Germline		 Chr17:50188948 Conflicting classifications of pathogenicity Osteogenesis imperfecta type I
Cardiovascular phenotype		 Criteria Provided
Conflicting Classifications
 rs_769158560

2 SubmittersRCV002124661RCV002434508
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
COL1A1-related disorder
not specified		 Criteria Provided
Conflicting Classifications
 rs_780242725

5 SubmittersRCV002097334RCV002372899RCV002277014RCV004738527RCV003491033
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
 rs_760490617

2 SubmittersRCV002099540RCV002324517
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
 rs_150314171

2 SubmittersRCV002141653RCV002277026
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
 rs_113617771

7 SubmittersRCV002163580RCV002277039RCV003916340RCV004587318
NM_022167.4(XYLT2):c.660G>C (p.Glu220Asp) SNV
Germline		 Chr17:50354439 Conflicting classifications of pathogenicity Condition: not provided
XYLT2-related disorder
Inborn genetic diseases
Osteogenesis imperfecta		 Criteria Provided
Conflicting Classifications
 rs_571962145

4 SubmittersRCV002120920RCV003978808RCV004965787RCV002277035
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
 rs_568880098

4 SubmittersRCV002277007RCV002216473RCV003958570RCV004045609
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
 rs_367978759

2 SubmittersRCV002185341RCV002277001
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
 rs_148614326

2 SubmittersRCV002127716RCV002277025
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
 rs_2144600046

2 SubmittersRCV002174611RCV002174610
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
 rs_1207715560

4 SubmittersRCV002118907RCV002277036RCV003070601RCV004587315
NM_000088.4(COL1A1):c.2758G>A (p.Gly920Ser) SNV
Germline		 Chr17:50189448 Likely pathogenic Osteogenesis imperfecta Criteria Provided
Single Submitter
 rs_2144550235

1 SubmittersRCV002221173
NM_000088.4(COL1A1):c.1399G>A (p.Gly467Arg) SNV
Germline		 Chr17:50194783 Likely pathogenic Osteogenesis imperfecta, perinatal lethal Criteria Provided
Single Submitter
 rs_2144573313

1 SubmittersRCV002225061
NM_000088.4(COL1A1):c.316G>T (p.Glu106Ter) SNV
Germline		 Chr17:50199573 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter
 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
 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
 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
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_906553840

2 SubmittersRCV002244160RCV003774692
NM_000088.4(COL1A1):c.608G>A (p.Gly203Asp) SNV
Germline		 Chr17:50197983 Pathogenic/Likely pathogenic Infantile cortical hyperostosis
Osteogenesis imperfecta type I		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_72667031

2 SubmittersRCV002248998RCV003631230
NM_000089.4(COL1A2):c.1972-1G>T SNV
Germline		 Chr7:94418498 Likely pathogenic Osteogenesis imperfecta, perinatal lethal Criteria Provided
Single Submitter
 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
 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
 rs_2115898280

2 SubmittersRCV002249375RCV002277099
NM_000089.4(COL1A2):c.1900G>A (p.Gly634Ser) SNV
Germline		 Chr7:94417760 Pathogenic Osteogenesis imperfecta, perinatal lethal Criteria Provided
Single Submitter
 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
 rs_2144542850

2 SubmittersRCV002247217RCV002472332
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
 rs_2144594870

2 SubmittersRCV002250850RCV003631231
NM_052854.4(CREB3L1):c.1186G>T (p.Glu396Ter) SNV
Germline		 Chr11:46317415 Pathogenic Osteogenesis imperfecta type 16 Criteria Provided
Single Submitter
 rs_747678376

1 SubmittersRCV002250968
NM_000088.4(COL1A1):c.4159G>A (p.Ala1387Thr) SNV
Germline		 Chr17:50185867 Conflicting classifications of pathogenicity Osteogenesis imperfecta type III
Osteogenesis imperfecta type I		 Criteria Provided
Conflicting Classifications
 rs_1598284183

2 SubmittersRCV002251006RCV003094078
NM_002615.7(SERPINF1):c.1091G>A (p.Trp364Ter) SNV
Germline		 Chr17:1777280 Likely pathogenic Osteogenesis imperfecta type 6 Criteria Provided
Single Submitter
 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
 rs_1488345176

1 SubmittersRCV002251213
NM_000089.4(COL1A2):c.1171G>C (p.Gly391Arg) SNV
Germline		 Chr7:94410501 Likely pathogenic Osteogenesis imperfecta with normal sclerae, dominant form Criteria Provided
Single Submitter
 rs_67707918

1 SubmittersRCV002251215
NM_002615.7(SERPINF1):c.1092G>A (p.Trp364Ter) SNV
Germline		 Chr17:1777281 Likely pathogenic Osteogenesis imperfecta type 6 Criteria Provided
Single Submitter
 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
Single Submitter
 rs_2137625459

1 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
 rs_2115921279

2 SubmittersRCV002254141RCV003408186
NM_022356.4(P3H1):c.2143C>T (p.Gln715Ter) SNV
Germline		 Chr1:42746765 Pathogenic Osteogenesis imperfecta type 8 Criteria Provided
Multiple Submitters
No Conflicts
 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, perinatal lethal
Osteogenesis imperfecta type III
Ehlers-danlos syndrome, arthrochalasia type, 2
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2
Osteogenesis imperfecta with normal sclerae, dominant form		 Criteria Provided
Conflicting Classifications
 rs_759251034

3 SubmittersRCV002260772RCV003095868RCV004784044
NM_000088.4(COL1A1):c.298G>T (p.Glu100Ter) SNV
Germline		 Chr17:50199753 Likely pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter
 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

2 SubmittersRCV002510599RCV003101515
NM_000942.5(PPIB):c.528+1G>C SNV
Germline		 Chr15:64156724 Likely pathogenic Osteogenesis imperfecta Criteria Provided
Single Submitter
 rs_1228817029

1 SubmittersRCV002271935
NM_000089.4(COL1A2):c.1631G>C (p.Gly544Ala) SNV
Germline		 Chr7:94413913 Likely pathogenic Osteogenesis imperfecta type III No Assertion Criteria Provided
 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
 rs_1275118660

1 SubmittersRCV002277761
NM_000088.4(COL1A1):c.543+1G>C SNV
Germline		 Chr17:50198432 Pathogenic Osteogenesis imperfecta Criteria Provided
Single Submitter
 rs_2144588841

1 SubmittersRCV002277763
NM_000088.4(COL1A1):c.543+2T>C SNV
Germline		 Chr17:50198431 Likely pathogenic Osteogenesis imperfecta Criteria Provided
Single Submitter
 rs_2144588834

1 SubmittersRCV002277764
NM_000088.4(COL1A1):c.580G>C (p.Gly194Arg) SNV
Germline		 Chr17:50198169 Pathogenic Osteogenesis imperfecta Criteria Provided
Single Submitter
 rs_72667024

1 SubmittersRCV002277765
NM_000088.4(COL1A1):c.904-1G>T SNV
Germline		 Chr17:50196368 Likely pathogenic Osteogenesis imperfecta Criteria Provided
Single Submitter
 rs_1907593112

1 SubmittersRCV002277767
NM_000089.4(COL1A2):c.1414G>C (p.Gly472Arg) SNV
Germline		 Chr7:94412593 Pathogenic Osteogenesis imperfecta Criteria Provided
Single Submitter
 rs_121912906

1 SubmittersRCV002277774
NM_000089.4(COL1A2):c.1496G>C (p.Gly499Ala) SNV
Germline		 Chr7:94412675 Likely pathogenic Osteogenesis imperfecta Criteria Provided
Single Submitter
 rs_72658122

1 SubmittersRCV002277775
NM_000089.4(COL1A2):c.1838G>A (p.Gly613Glu) SNV
Germline		 Chr7:94416478 Likely pathogenic Osteogenesis imperfecta
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2115917195

2 SubmittersRCV002277776RCV003096230
NM_000089.4(COL1A2):c.1864G>T (p.Gly622Cys) SNV
Germline		 Chr7:94417724 Pathogenic/Likely pathogenic Osteogenesis imperfecta
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2115921275

2 SubmittersRCV002277777RCV003774894
NM_000089.4(COL1A2):c.2270G>A (p.Gly757Asp) SNV
Germline		 Chr7:94420623 Likely pathogenic Osteogenesis imperfecta Criteria Provided
Single Submitter
 rs_72658178

1 SubmittersRCV002277779
NM_000089.4(COL1A2):c.2314G>T (p.Gly772Cys) SNV
Germline		 Chr7:94421027 Pathogenic Osteogenesis imperfecta Criteria Provided
Single Submitter
 rs_72658185

1 SubmittersRCV002277780
NM_000089.4(COL1A2):c.2396G>A (p.Gly799Glu) SNV
Germline		 Chr7:94421945 Pathogenic Osteogenesis imperfecta Criteria Provided
Single Submitter
 rs_2115937116

1 SubmittersRCV002277781
NM_000089.4(COL1A2):c.486+2T>G SNV
Germline		 Chr7:94405254 Likely pathogenic Ehlers-Danlos syndrome
Osteogenesis imperfecta		 Criteria Provided
Single Submitter
 rs_2115877489

1 SubmittersRCV002277783RCV002277782
NM_000089.4(COL1A2):c.713G>T (p.Gly238Val) SNV
Germline		 Chr7:94408355 Likely pathogenic Osteogenesis imperfecta Criteria Provided
Single Submitter
 rs_1188265845

1 SubmittersRCV002277784
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
 rs_1701306755

2 SubmittersRCV002277787RCV003611574
NM_000478.6(ALPL):c.677T>C (p.Met226Thr) SNV
Germline		 Chr1:21568132 Conflicting classifications of pathogenicity Osteogenesis imperfecta
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_752641050

3 SubmittersRCV002277788RCV003560918
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
 rs_781996509

2 SubmittersRCV002277792RCV003774895
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
 rs_2153110162

2 SubmittersRCV002277797RCV003546748
NM_002335.4(LRP5):c.209T>A (p.Phe70Tyr) SNV
Germline		 Chr11:68347964 Pathogenic Osteogenesis imperfecta Criteria Provided
Single Submitter
 rs_2153129403

1 SubmittersRCV002277798
NM_002335.4(LRP5):c.210C>A (p.Phe70Leu) SNV
Germline		 Chr11:68347965 Pathogenic Osteogenesis imperfecta Criteria Provided
Single Submitter
 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
 rs_765952535

2 SubmittersRCV002277800RCV003096231
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
 rs_2098673217

2 SubmittersRCV002277804RCV003096233
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
 rs_752100031

3 SubmittersRCV002277806RCV003774896RCV003971223
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
 rs_750573655

2 SubmittersRCV002277807RCV003096235
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
 rs_370391413

2 SubmittersRCV002277809RCV003096237
NM_002335.4(LRP5):c.884-2A>G SNV
Germline		 Chr11:68365569 Likely pathogenic Osteogenesis imperfecta Criteria Provided
Single Submitter
 rs_2153140527

1 SubmittersRCV002277813
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
 rs_751755276

2 SubmittersRCV002277814RCV003096239
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
 rs_752575140

3 SubmittersRCV002277816RCV003096240
NM_022356.4(P3H1):c.2154C>T (p.Pro718=) SNV
Germline		 Chr1:42746754 Conflicting classifications of pathogenicity Osteogenesis imperfecta
Osteogenesis imperfecta type 8		 Criteria Provided
Conflicting Classifications
 rs_775626323

2 SubmittersRCV002277822RCV003495270
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
 rs_747222233

2 SubmittersRCV002277837RCV003774897
NM_002615.7(SERPINF1):c.439+7C>T SNV
Germline		 Chr17:1771191 Conflicting classifications of pathogenicity Osteogenesis imperfecta
Condition: not provided
SERPINF1-related disorder		 Criteria Provided
Conflicting Classifications
 rs_766814533

3 SubmittersRCV002277838RCV003718470RCV003903663
NM_002615.7(SERPINF1):c.609C>T (p.Ile203=) SNV
Germline		 Chr17:1772041 Conflicting classifications of pathogenicity Osteogenesis imperfecta
SERPINF1-related disorder
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_765207911

3 SubmittersRCV002277839RCV003971224RCV003120875
NM_002615.7(SERPINF1):c.787-10C>G SNV
Germline		 Chr17:1776522 Likely pathogenic Osteogenesis imperfecta Criteria Provided
Single Submitter
 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
 rs_544719966

2 SubmittersRCV002277845RCV003698898
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
 rs_561083858

2 SubmittersRCV002277850RCV003096243
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
 rs_750349082

2 SubmittersRCV002277860RCV003774898
NM_022167.4(XYLT2):c.1923C>T (p.Ser641=) SNV
Germline		 Chr17:50357234 Conflicting classifications of pathogenicity Osteogenesis imperfecta
XYLT2-related disorder
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_778642140

3 SubmittersRCV002277861RCV003960981RCV003096246
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
 rs_140443495

3 SubmittersRCV002277863RCV003101576RCV003933738
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
 rs_149856199

2 SubmittersRCV002277873RCV003546750
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
 rs_66511271

2 SubmittersRCV002277875RCV003096249
NM_000088.4(COL1A1):c.1102G>T (p.Gly368Cys) SNV
Germline		 Chr17:50195620 Pathogenic Osteogenesis imperfecta Criteria Provided
Single Submitter
 rs_72645367

1 SubmittersRCV002277876
NM_000088.4(COL1A1):c.1614+1G>T SNV
Germline		 Chr17:50194348 Likely pathogenic Osteogenesis imperfecta Criteria Provided
Single Submitter
 rs_72648357

1 SubmittersRCV002277881
NM_000088.4(COL1A1):c.1948G>C (p.Gly650Arg) SNV
Germline		 Chr17:50192510 Likely pathogenic Osteogenesis imperfecta Criteria Provided
Single Submitter
 rs_72651626

1 SubmittersRCV002277883
NM_000088.4(COL1A1):c.1984-2A>C SNV
Germline		 Chr17:50192026 Pathogenic Osteogenesis imperfecta Criteria Provided
Single Submitter
 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
 rs_373873548

2 SubmittersRCV002277885RCV003096250
NM_000088.4(COL1A1):c.2074G>T (p.Gly692Cys) SNV
Germline		 Chr17:50191841 Likely pathogenic Osteogenesis imperfecta Criteria Provided
Single Submitter
 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
 rs_72653130

1 SubmittersRCV002277890
NM_000088.4(COL1A1):c.2560-1G>A SNV
Germline		 Chr17:50189913 Pathogenic Osteogenesis imperfecta Criteria Provided
Single Submitter
 rs_72653139

1 SubmittersRCV002277892
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
 rs_2144552369

2 SubmittersRCV002277894RCV002277893RCV003517362
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
 rs_1414204760

3 SubmittersRCV002277895RCV003365725RCV003631235
NM_000088.4(COL1A1):c.1011C>T (p.Thr337=) SNV
Germline		 Chr17:50195968 Conflicting classifications of pathogenicity Ehlers-Danlos syndrome
Osteogenesis imperfecta type I
Cardiovascular phenotype		 Criteria Provided
Conflicting Classifications
 rs_774708577

3 SubmittersRCV002277954RCV003101584RCV002454606
NM_000088.4(COL1A1):c.1845G>T (p.Glu615Asp) SNV
Germline		 Chr17:50192827 Conflicting classifications of pathogenicity Ehlers-Danlos syndrome
Osteogenesis imperfecta type I
COL1A1-related disorder		 Criteria Provided
Conflicting Classifications
 rs_769791947

3 SubmittersRCV002277956RCV003631236RCV004548257
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
 rs_138749826

3 SubmittersRCV002277958RCV003517363RCV004546716
NM_000089.4(COL1A2):c.150A>G (p.Pro50=) SNV
Germline		 Chr7:94400213 Conflicting classifications of pathogenicity Ehlers-Danlos syndrome
Cardiovascular phenotype
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1		 Criteria Provided
Conflicting Classifications
 rs_369695645

3 SubmittersRCV002277974RCV002391392RCV003774903
NM_000089.4(COL1A2):c.2737G>A (p.Gly913Ser) SNV
Germline		 Chr7:94425180 Likely pathogenic Ehlers-Danlos syndrome
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1305819869

2 SubmittersRCV002277978RCV003774904
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
 rs_751107938

3 SubmittersRCV002277980RCV003774906RCV004990761
NM_000088.4(COL1A1):c.1867G>A (p.Gly623Ser) SNV
Germline		 Chr17:50192805 Likely pathogenic Osteogenesis imperfecta, perinatal lethal Criteria Provided
Single Submitter
 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

1 SubmittersRCV002282766
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

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		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003097730RCV004584526
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

2 SubmittersRCV002287870RCV003097736
NM_000088.4(COL1A1):c.3531+1G>T SNV
Germline		 Chr17:50187014 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter

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

2 SubmittersRCV002289163RCV002325721
NM_000089.4(COL1A2):c.2673+1G>T SNV
Germline		 Chr7:94424444 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter

1 SubmittersRCV002289306
NM_000089.4(COL1A2):c.693+5G>A SNV
Germline		 Chr7:94408241 Conflicting classifications of pathogenicity Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2
Condition: not provided		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002289496RCV002463195
NM_000089.4(COL1A2):c.1018G>C (p.Gly340Arg) SNV
Germline		 Chr7:94409804 Pathogenic Osteogenesis imperfecta type III Criteria Provided
Single Submitter

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

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

2 SubmittersRCV002293608RCV003517367
NM_022356.4(P3H1):c.1224-79G>A SNV
Germline		 Chr1:42755069 Likely pathogenic Osteogenesis imperfecta type 8 Criteria Provided
Single Submitter

1 SubmittersRCV002302845
NM_000088.4(COL1A1):c.608G>C (p.Gly203Ala) SNV
Germline		 Chr17:50197983 Likely pathogenic Osteogenesis imperfecta Criteria Provided
Single Submitter

1 SubmittersRCV002302612
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

3 SubmittersRCV002452680RCV003481276RCV003631244
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

2 SubmittersRCV002324970RCV003120895
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

2 SubmittersRCV002363825RCV003102434
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

2 SubmittersRCV002370833RCV003098498
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

3 SubmittersRCV002427997RCV003099871RCV004592986
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

2 SubmittersRCV002387572RCV003094987
NM_000088.4(COL1A1):c.1056+2T>C SNV
Germline		 Chr17:50195921 Conflicting classifications of pathogenicity Cardiovascular phenotype
Osteogenesis imperfecta type I		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002398831RCV003631263
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

2 SubmittersRCV002421555RCV003097378
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

2 SubmittersRCV002457586RCV003517435
NM_000089.4(COL1A2):c.2880A>T (p.Ala960=) SNV
Germline		 Chr7:94425794 Conflicting classifications of pathogenicity Cardiovascular phenotype
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I
COL1A2-related disorder		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002437794RCV003102822RCV003896193
NM_000088.4(COL1A1):c.1427G>T (p.Gly476Val) SNV
Germline		 Chr17:50194755 Likely pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter

1 SubmittersRCV002466865
NM_000088.4(COL1A1):c.299-2A>G SNV
Germline		 Chr17:50199592 Pathogenic Osteogenesis imperfecta, perinatal lethal Criteria Provided
Single Submitter

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

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

1 SubmittersRCV002467486
NM_000089.4(COL1A2):c.2738G>A (p.Gly913Asp) SNV
Germline		 Chr7:94425181 Likely pathogenic Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV002469938RCV002571441RCV003234205
NM_000088.4(COL1A1):c.697-2A>C SNV
Germline		 Chr17:50197235 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter

1 SubmittersRCV002471342
NM_000088.4(COL1A1):c.2938-1G>A SNV
Unknown		 Chr17:50189011 Likely pathogenic Osteogenesis imperfecta type I No Assertion Criteria Provided

1 SubmittersRCV002472335
NM_000088.4(COL1A1):c.4183G>T (p.Glu1395Ter) SNV
Unknown		 Chr17:50185843 Likely pathogenic Osteogenesis imperfecta type I No Assertion Criteria Provided

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

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

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

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

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

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

2 SubmittersRCV002472347
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

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

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

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

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

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

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

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

2 SubmittersRCV003037241RCV003138462
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

2 SubmittersRCV003060128RCV003152809
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

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		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003060131RCV004719287
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

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

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

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

2 SubmittersRCV003064465RCV003111617
NM_000088.4(COL1A1):c.4005+1G>C SNV
Germline		 Chr17:50186316 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter

1 SubmittersRCV003064466
NM_000088.4(COL1A1):c.3531+2T>C SNV
Germline		 Chr17:50187013 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter

1 SubmittersRCV003064467
NM_000088.4(COL1A1):c.2560G>A (p.Gly854Ser) SNV
Germline		 Chr17:50189912 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter

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

2 SubmittersRCV003041316RCV003332400
NM_000088.4(COL1A1):c.2245G>A (p.Gly749Ser) SNV
Germline		 Chr17:50190915 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter

1 SubmittersRCV003041317
NM_000088.4(COL1A1):c.1876-1G>A SNV
Germline		 Chr17:50192694 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter

1 SubmittersRCV003050486
NM_000088.4(COL1A1):c.1787G>C (p.Gly596Ala) SNV
Germline		 Chr17:50193028 Likely pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter

1 SubmittersRCV003064468
NM_000088.4(COL1A1):c.1300-1G>A SNV
Germline		 Chr17:50195101 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter

1 SubmittersRCV003064469
NM_000088.4(COL1A1):c.1057-2A>C SNV
Germline		 Chr17:50195667 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003064470
NM_000088.4(COL1A1):c.1056+1G>A SNV
Germline		 Chr17:50195922 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter

1 SubmittersRCV003050487
NM_000088.4(COL1A1):c.858+1G>A SNV
Germline		 Chr17:50196616 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter

1 SubmittersRCV003041318
NM_000088.4(COL1A1):c.670G>T (p.Gly224Cys) SNV
Germline		 Chr17:50197758 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter

1 SubmittersRCV003041320
NM_000088.4(COL1A1):c.634G>A (p.Gly212Arg) SNV
Germline		 Chr17:50197957 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter

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

2 SubmittersRCV003050489RCV004786808
NM_000088.4(COL1A1):c.333+1G>T SNV
Germline		 Chr17:50199555 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter

1 SubmittersRCV003064475
NM_000088.4(COL1A1):c.299-1G>C SNV
Germline		 Chr17:50199591 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter

1 SubmittersRCV003064476
NM_000088.4(COL1A1):c.189C>A (p.Cys63Ter) SNV
Germline		 Chr17:50199862 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter

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

2 SubmittersRCV003063531RCV004790345
NM_000088.4(COL1A1):c.3155G>C (p.Gly1052Ala) SNV
Germline		 Chr17:50188582 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter

1 SubmittersRCV003072872
NM_000088.4(COL1A1):c.653G>T (p.Gly218Val) SNV
Germline		 Chr17:50197775 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter

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

1 SubmittersRCV003079083
NM_000089.4(COL1A2):c.451G>A (p.Gly151Arg) SNV
Germline		 Chr7:94405217 Likely pathogenic Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I
COL1A2-related disorder		 Criteria Provided
Single Submitter

2 SubmittersRCV003074955RCV004725509
NM_006371.5(CRTAP):c.794-1G>C SNV
Germline		 Chr3:33129938 Likely pathogenic Osteogenesis imperfecta type 7 Criteria Provided
Single Submitter

1 SubmittersRCV003082455
NM_022356.4(P3H1):c.438C>A (p.Tyr146Ter) SNV
Germline		 Chr1:42766534 Pathogenic Osteogenesis imperfecta type 8 Criteria Provided
Single Submitter

1 SubmittersRCV003091843
NM_000089.4(COL1A2):c.2539G>A (p.Gly847Ser) SNV
Germline		 Chr7:94423092 Pathogenic Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I		 Criteria Provided
Single Submitter

1 SubmittersRCV003084870
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

2 SubmittersRCV002614954RCV003161901
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

2 SubmittersRCV002591748RCV004765678
NM_000088.4(COL1A1):c.2179C>T (p.Gln727Ter) SNV
Germline		 Chr17:50191439 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter

1 SubmittersRCV003112382
NM_000088.4(COL1A1):c.1508G>C (p.Gly503Ala) SNV
Germline		 Chr17:50194580 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter

1 SubmittersRCV003112385
NM_000088.4(COL1A1):c.590G>C (p.Gly197Ala) SNV
Germline		 Chr17:50198001 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter

1 SubmittersRCV003112387
NM_000088.4(COL1A1):c.158G>A (p.Trp53Ter) SNV
Germline		 Chr17:50199893 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter

1 SubmittersRCV003112388
NM_000089.4(COL1A2):c.1676G>A (p.Gly559Asp) SNV
Germline		 Chr7:94414232 Pathogenic Osteogenesis imperfecta Criteria Provided
Single Submitter

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

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

1 SubmittersRCV002570268
NM_000089.4(COL1A2):c.2882G>A (p.Gly961Asp) SNV
Germline		 Chr7:94425796 Pathogenic Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I		 Criteria Provided
Single Submitter

1 SubmittersRCV002617099
NM_006371.5(CRTAP):c.445A>T (p.Lys149Ter) SNV
Germline		 Chr3:33114522 Pathogenic Osteogenesis imperfecta type 7 Criteria Provided
Single Submitter

1 SubmittersRCV002626063
NM_000088.4(COL1A1):c.2451+14C>A SNV
Germline		 Chr17:50190313 Conflicting classifications of pathogenicity Osteogenesis imperfecta type I
not specified		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002726662RCV003324046
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

2 SubmittersRCV002740933RCV003738284
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

2 SubmittersRCV002751566RCV003156392
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

1 SubmittersRCV002776568
NM_000089.4(COL1A2):c.586G>C (p.Gly196Arg) SNV
Germline		 Chr7:94406295 Pathogenic Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I		 Criteria Provided
Single Submitter

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

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

3 SubmittersRCV002801974RCV004548371
NM_000088.4(COL1A1):c.806G>A (p.Gly269Asp) SNV
Germline		 Chr17:50196669 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter

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

1 SubmittersRCV002816113
NM_000089.4(COL1A2):c.1153G>C (p.Gly385Arg) SNV
Germline		 Chr7:94410483 Pathogenic Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1		 Criteria Provided
Single Submitter

1 SubmittersRCV002842191
NM_000089.4(COL1A2):c.280G>A (p.Gly94Ser) SNV
Germline		 Chr7:94404556 Likely pathogenic Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1		 Criteria Provided
Single Submitter

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

1 SubmittersRCV002843653
NM_000088.4(COL1A1):c.1978G>T (p.Glu660Ter) SNV
Germline		 Chr17:50192480 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter

1 SubmittersRCV002834647
NM_000088.4(COL1A1):c.769G>T (p.Gly257Ter) SNV
Germline		 Chr17:50197045 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter

1 SubmittersRCV002851495
NM_000089.4(COL1A2):c.1099G>A (p.Gly367Arg) SNV
Germline		 Chr7:94410429 Pathogenic Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I
Ehlers-danlos syndrome, arthrochalasia type, 2		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002852812RCV003989790
NM_000088.4(COL1A1):c.4006-2A>G SNV
Germline		 Chr17:50186022 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter

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

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

1 SubmittersRCV002866798
NM_000089.4(COL1A2):c.712G>A (p.Gly238Arg) SNV
Germline		 Chr7:94408354 Likely pathogenic Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I		 Criteria Provided
Single Submitter

1 SubmittersRCV002889570
NM_000088.4(COL1A1):c.2482G>T (p.Glu828Ter) SNV
Germline		 Chr17:50190078 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter

1 SubmittersRCV002866895
NM_000088.4(COL1A1):c.880G>T (p.Glu294Ter) SNV
Germline		 Chr17:50196507 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter

1 SubmittersRCV002881701
NM_000088.4(COL1A1):c.333+1G>C SNV
Germline		 Chr17:50199555 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter

1 SubmittersRCV002847588
NM_000088.4(COL1A1):c.2938-1G>C SNV
Germline		 Chr17:50189011 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter

1 SubmittersRCV002853476
NM_000089.4(COL1A2):c.3583T>A (p.Cys1195Ser) SNV
Germline		 Chr7:94428349 Pathogenic Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I		 Criteria Provided
Single Submitter

1 SubmittersRCV002852220
NM_000089.4(COL1A2):c.929G>T (p.Gly310Val) SNV
Germline		 Chr7:94409601 Pathogenic Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I		 Criteria Provided
Single Submitter

1 SubmittersRCV002857971
NM_000089.4(COL1A2):c.2107G>T (p.Gly703Cys) SNV
Germline		 Chr7:94420260 Likely pathogenic Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I		 Criteria Provided
Single Submitter

1 SubmittersRCV002853015
NM_000088.4(COL1A1):c.2020G>T (p.Gly674Ter) SNV
Germline		 Chr17:50191988 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter

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

1 SubmittersRCV002899050
NM_000089.4(COL1A2):c.1981G>C (p.Gly661Arg) SNV
Germline		 Chr7:94418508 Pathogenic Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I		 Criteria Provided
Single Submitter

1 SubmittersRCV002894768
NM_000088.4(COL1A1):c.1461+1G>T SNV
Germline		 Chr17:50194720 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter

1 SubmittersRCV002891195
NM_000089.4(COL1A2):c.2008G>A (p.Gly670Ser) SNV
Germline		 Chr7:94418535 Likely pathogenic Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I		 Criteria Provided
Single Submitter

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

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

2 SubmittersRCV002900265RCV004990906
NM_000089.4(COL1A2):c.856G>T (p.Gly286Cys) SNV
Germline		 Chr7:94409385 Pathogenic Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I		 Criteria Provided
Single Submitter

1 SubmittersRCV002889970
NM_022356.4(P3H1):c.922C>T (p.Gln308Ter) SNV
Germline		 Chr1:42758870 Pathogenic Osteogenesis imperfecta type 8 Criteria Provided
Single Submitter

1 SubmittersRCV002889981
NM_006371.5(CRTAP):c.471+7C>T SNV
Germline		 Chr3:33114555 Conflicting classifications of pathogenicity Osteogenesis imperfecta type 7
not specified		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002882193RCV004587383
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

2 SubmittersRCV002895569RCV002917512
NM_000089.4(COL1A2):c.434G>A (p.Gly145Asp) SNV
Germline		 Chr7:94405200 Pathogenic Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I		 Criteria Provided
Single Submitter

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

2 SubmittersRCV002927536RCV004786773
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

1 SubmittersRCV002918351
NM_000089.4(COL1A2):c.2404-15T>C SNV
Germline		 Chr7:94422942 Conflicting classifications of pathogenicity Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
not specified		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002938428RCV004801256
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

2 SubmittersRCV002914601RCV003443091
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

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

1 SubmittersRCV002949060
NM_000088.4(COL1A1):c.1A>T (p.Met1Leu) SNV
Germline		 Chr17:50201513 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter

1 SubmittersRCV002994692
NM_000089.4(COL1A2):c.3127G>A (p.Ala1043Thr) SNV
Germline		 Chr7:94427029 Likely pathogenic Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I		 Criteria Provided
Single Submitter

1 SubmittersRCV002982412
NM_000089.4(COL1A2):c.1089+1G>A SNV
Germline		 Chr7:94410296 Likely pathogenic Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I		 Criteria Provided
Single Submitter

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

2 SubmittersRCV002995418RCV004550335
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

2 SubmittersRCV002998655RCV003146711
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

1 SubmittersRCV003010411
NM_000088.4(COL1A1):c.1444G>C (p.Gly482Arg) SNV
Germline		 Chr17:50194738 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter

1 SubmittersRCV003010240
NM_000088.4(COL1A1):c.1822-1G>A SNV
Germline		 Chr17:50192851 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter

1 SubmittersRCV003021543
NM_000088.4(COL1A1):c.1148G>C (p.Gly383Ala) SNV
Germline		 Chr17:50195574 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter

1 SubmittersRCV003022835
NM_000088.4(COL1A1):c.298+2T>A SNV
Germline		 Chr17:50199751 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter

1 SubmittersRCV003014779
NM_000088.4(COL1A1):c.1984-2A>G SNV
Germline		 Chr17:50192026 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter

1 SubmittersRCV003046232
NM_000088.4(COL1A1):c.886G>A (p.Gly296Arg) SNV
Germline		 Chr17:50196501 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter

1 SubmittersRCV003017193
NM_000089.4(COL1A2):c.3143G>A (p.Gly1048Asp) SNV
Germline		 Chr7:94427045 Pathogenic Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1		 Criteria Provided
Single Submitter

1 SubmittersRCV003027432
NM_000088.4(COL1A1):c.1400G>C (p.Gly467Ala) SNV
Germline		 Chr17:50194782 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter

1 SubmittersRCV003055033
NM_000088.4(COL1A1):c.903+1G>T SNV
Germline		 Chr17:50196483 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter

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

1 SubmittersRCV003039288
NM_000088.4(COL1A1):c.2451+1G>C SNV
Germline		 Chr17:50190326 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter

1 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

2 SubmittersRCV003044639RCV003138459
NM_000089.4(COL1A2):c.3026G>C (p.Gly1009Ala) SNV
Germline		 Chr7:94426451 Likely pathogenic Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1		 Criteria Provided
Single Submitter

1 SubmittersRCV003052286
NM_000088.4(COL1A1):c.671G>C (p.Gly224Ala) SNV
Germline		 Chr17:50197757 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter

1 SubmittersRCV003048110
NM_000088.4(COL1A1):c.1615-1G>A SNV
Germline		 Chr17:50194184 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter

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

2 SubmittersRCV002681988RCV004720386
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

2 SubmittersRCV002685090RCV003992734
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

2 SubmittersRCV003120115RCV003517446
NM_022356.4(P3H1):c.1873G>A (p.Gly625Arg) SNV
Germline		 Chr1:42747764 Likely pathogenic Osteogenesis imperfecta type 8 Criteria Provided
Single Submitter

2 SubmittersRCV003123572
NM_022356.4(P3H1):c.640C>T (p.Arg214Ter) SNV
Germline		 Chr1:42759369 Pathogenic Osteogenesis imperfecta type 8 Criteria Provided
Single Submitter

2 SubmittersRCV003123573
NM_000088.4(COL1A1):c.2559+5G>T SNV
Unknown		 Chr17:50189996 Likely pathogenic Osteogenesis imperfecta type I No Assertion Criteria Provided

1 SubmittersRCV003126321
NM_000088.4(COL1A1):c.3182G>T (p.Gly1061Val) SNV
Germline		 Chr17:50188555 Likely pathogenic Osteogenesis imperfecta Criteria Provided
Single Submitter

1 SubmittersRCV003128180
NM_000089.4(COL1A2):c.2295+5G>A SNV
Germline		 Chr7:94420653 Likely pathogenic Osteogenesis imperfecta Criteria Provided
Single Submitter

1 SubmittersRCV003128181
NM_000089.4(COL1A2):c.2873G>T (p.Gly958Val) SNV
Germline		 Chr7:94425787 Likely pathogenic Osteogenesis imperfecta Criteria Provided
Single Submitter

1 SubmittersRCV003128182
NM_000089.4(COL1A2):c.1990G>C (p.Gly664Arg) SNV
Germline		 Chr7:94418517 Pathogenic Condition: not provided
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003129375RCV003778689
NM_000089.4(COL1A2):c.1531G>T (p.Gly511Cys) SNV
Germline		 Chr7:94413110 Likely pathogenic Osteogenesis imperfecta, perinatal lethal Criteria Provided
Single Submitter

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

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

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

2 SubmittersRCV003136508RCV003517449
NM_000089.4(COL1A2):c.973G>C (p.Gly325Arg) SNV
Germline		 Chr7:94409759 Likely pathogenic Condition: not provided
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003141651RCV003778824
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

2 SubmittersRCV003165031RCV003778940
NM_000088.4(COL1A1):c.3977T>G (p.Phe1326Cys) SNV
Germline		 Chr17:50186345 Pathogenic Osteogenesis imperfecta, perinatal lethal Criteria Provided
Single Submitter

1 SubmittersRCV003219187
NM_018112.3(TMEM38B):c.532A>T (p.Lys178Ter) SNV
Germline		 Chr9:105722611 Likely pathogenic Osteogenesis imperfecta Criteria Provided
Single Submitter

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

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

2 SubmittersRCV003229289RCV003779828
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

2 SubmittersRCV003230167RCV003779835
NM_000088.4(COL1A1):c.2821G>A (p.Gly941Ser) SNV
Germline		 Chr17:50189385 Likely pathogenic Osteogenesis imperfecta type III No Assertion Criteria Provided

1 SubmittersRCV003326701
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

2 SubmittersRCV003237229RCV003517473
NM_000089.4(COL1A2):c.3584G>C (p.Cys1195Ser) SNV
Germline		 Chr7:94428350 Pathogenic/Likely pathogenic Osteogenesis imperfecta type III
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003314445RCV003777283
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

3 SubmittersRCV003314873RCV003322940
NM_000088.4(COL1A1):c.2858G>T (p.Gly953Val) SNV
Germline		 Chr17:50189247 Likely pathogenic Osteogenesis imperfecta type III Criteria Provided
Single Submitter

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

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

2 SubmittersRCV003324224RCV003495331
NM_000089.4(COL1A2):c.3277G>T (p.Gly1093Cys) SNV
Germline		 Chr7:94427636 Likely pathogenic Osteogenesis imperfecta type III
COL1A2-related disorder		 Criteria Provided
Single Submitter

2 SubmittersRCV003324616RCV003410347
NM_000089.4(COL1A2):c.2297G>A (p.Gly766Asp) SNV
Germline		 Chr7:94421010 Likely pathogenic Osteogenesis imperfecta Criteria Provided
Single Submitter

1 SubmittersRCV003327332
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

2 SubmittersRCV003327333RCV004701037
NM_000088.4(COL1A1):c.760G>T (p.Gly254Ter) SNV
Germline		 Chr17:50197054 Pathogenic Osteogenesis imperfecta Criteria Provided
Single Submitter

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

1 SubmittersRCV003333563
NM_000088.4(COL1A1):c.370-2A>T SNV
Unknown		 Chr17:50199329 Likely pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter

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
Single Submitter

1 SubmittersRCV003384288
NM_000088.4(COL1A1):c.2192G>A (p.Gly731Asp) SNV
Germline		 Chr17:50191426 Likely pathogenic Osteogenesis imperfecta, perinatal lethal Criteria Provided
Single Submitter

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

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

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

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

1 SubmittersRCV004548627
NM_000088.4(COL1A1):c.750+1G>T SNV
Germline		 Chr17:50197179 Pathogenic Osteogenesis imperfecta type III No Assertion Criteria Provided

1 SubmittersRCV004548628
NM_000088.4(COL1A1):c.2830-2A>C SNV
Germline		 Chr17:50189277 Pathogenic Osteogenesis imperfecta, perinatal lethal No Assertion Criteria Provided

1 SubmittersRCV004548629
NM_000089.4(COL1A2):c.614G>A (p.Gly205Asp) SNV
Germline		 Chr7:94407866 Likely pathogenic Osteogenesis imperfecta, perinatal lethal Criteria Provided
Single Submitter

1 SubmittersRCV003482490
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

2 SubmittersRCV003486232RCV003720940
NM_000088.4(COL1A1):c.3928A>T (p.Lys1310Ter) SNV
Germline		 Chr17:50186394 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter

1 SubmittersRCV003517955
NM_000088.4(COL1A1):c.1456G>T (p.Glu486Ter) SNV
Germline		 Chr17:50194726 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter

1 SubmittersRCV003518032
NM_000088.4(COL1A1):c.1184G>C (p.Gly395Ala) SNV
Germline		 Chr17:50195450 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter

1 SubmittersRCV003517564
NM_022356.4(P3H1):c.951T>A (p.Tyr317Ter) SNV
Germline		 Chr1:42757912 Pathogenic Osteogenesis imperfecta type 8 Criteria Provided
Single Submitter

1 SubmittersRCV003496184
NM_000088.4(COL1A1):c.3532-1G>T SNV
Germline		 Chr17:50186923 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter

1 SubmittersRCV003517927
NM_000088.4(COL1A1):c.73G>T (p.Glu25Ter) SNV
Germline		 Chr17:50201441 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter

1 SubmittersRCV003517959
NM_000088.4(COL1A1):c.200A>G (p.Lys67Arg) SNV
Germline		 Chr17:50199851 Conflicting classifications of pathogenicity Osteogenesis imperfecta type I
Condition: not provided		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003518038RCV004723355
NM_000088.4(COL1A1):c.79C>T (p.Gln27Ter) SNV
Germline		 Chr17:50201435 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter

1 SubmittersRCV003518309
NM_000088.4(COL1A1):c.3814G>T (p.Gly1272Ter) SNV
Germline		 Chr17:50186640 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter

1 SubmittersRCV003518100
NM_006371.5(CRTAP):c.923-2A>G SNV
Germline		 Chr3:33132553 Pathogenic Osteogenesis imperfecta type 7 Criteria Provided
Single Submitter

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

1 SubmittersRCV003518266
NM_000088.4(COL1A1):c.1983+1G>C SNV
Germline		 Chr17:50192474 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter

1 SubmittersRCV003518316
NM_006371.5(CRTAP):c.370C>T (p.Gln124Ter) SNV
Germline		 Chr3:33114447 Pathogenic Osteogenesis imperfecta type 7 Criteria Provided
Single Submitter

1 SubmittersRCV003506121
NM_000088.4(COL1A1):c.124C>T (p.Gln42Ter) SNV
Germline		 Chr17:50199927 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter

1 SubmittersRCV003518716
NM_022356.4(P3H1):c.2164C>T (p.Gln722Ter) SNV
Germline		 Chr1:42746744 Pathogenic Osteogenesis imperfecta type 8 Criteria Provided
Single Submitter

1 SubmittersRCV003494624
NM_022356.4(P3H1):c.1914+1G>A SNV
Germline		 Chr1:42747722 Pathogenic Osteogenesis imperfecta type 8 Criteria Provided
Single Submitter

1 SubmittersRCV003494626
NM_022356.4(P3H1):c.1223+2T>G SNV
Germline		 Chr1:42755163 Pathogenic Osteogenesis imperfecta type 8 Criteria Provided
Single Submitter

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

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

3 SubmittersRCV003557721RCV004765889
NM_000088.4(COL1A1):c.545G>T (p.Gly182Val) SNV
Germline		 Chr17:50198204 Likely pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter

1 SubmittersRCV003516774
NM_000088.4(COL1A1):c.3807G>A (p.Trp1269Ter) SNV
Germline		 Chr17:50186647 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter

1 SubmittersRCV003518808
NM_000088.4(COL1A1):c.3369+1G>C SNV
Germline		 Chr17:50187875 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter

1 SubmittersRCV003518809
NM_000088.4(COL1A1):c.3208-2A>C SNV
Germline		 Chr17:50188151 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter

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

2 SubmittersRCV003518811RCV004721202
NM_000088.4(COL1A1):c.2452-2A>G SNV
Germline		 Chr17:50190110 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter

1 SubmittersRCV003518812
NM_000088.4(COL1A1):c.1876G>A (p.Gly626Ser) SNV
Germline		 Chr17:50192693 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter

1 SubmittersRCV003518813
NM_000088.4(COL1A1):c.1461+1G>A SNV
Germline		 Chr17:50194720 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter

1 SubmittersRCV003518814
NM_000088.4(COL1A1):c.1353+2T>C SNV
Germline		 Chr17:50195045 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter

1 SubmittersRCV003518815
NM_000088.4(COL1A1):c.1228G>A (p.Gly410Ser) SNV
Germline		 Chr17:50195303 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter

1 SubmittersRCV003518816
NM_000088.4(COL1A1):c.959G>T (p.Gly320Val) SNV
Germline		 Chr17:50196198 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter

1 SubmittersRCV003518817
NM_000088.4(COL1A1):c.697-2A>T SNV
Germline		 Chr17:50197235 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter

1 SubmittersRCV003518818
NM_022356.4(P3H1):c.941-2A>T SNV
Germline		 Chr1:42757924 Likely pathogenic Osteogenesis imperfecta type 8 Criteria Provided
Single Submitter

1 SubmittersRCV003494808
NM_000088.4(COL1A1):c.700G>T (p.Glu234Ter) SNV
Germline		 Chr17:50197230 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter

1 SubmittersRCV003516771
NM_022356.4(P3H1):c.1170+2T>C SNV
Germline		 Chr1:42755546 Likely pathogenic Osteogenesis imperfecta type 8 Criteria Provided
Single Submitter

1 SubmittersRCV003495030
NM_000088.4(COL1A1):c.3046-2A>C SNV
Germline		 Chr17:50188797 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter

1 SubmittersRCV003516927
NM_000088.4(COL1A1):c.2372G>C (p.Gly791Ala) SNV
Germline		 Chr17:50190568 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter

1 SubmittersRCV003516859
NM_000088.4(COL1A1):c.2407G>A (p.Gly803Ser) SNV
Germline		 Chr17:50190371 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter

1 SubmittersRCV003516865
NM_000088.4(COL1A1):c.1057-1G>C SNV
Germline		 Chr17:50195666 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter

1 SubmittersRCV003516933
NM_006371.5(CRTAP):c.997C>T (p.Gln333Ter) SNV
Germline		 Chr3:33132629 Pathogenic Osteogenesis imperfecta type 7 Criteria Provided
Single Submitter

1 SubmittersRCV003504800
NM_022356.4(P3H1):c.448C>T (p.Gln150Ter) SNV
Germline		 Chr1:42766524 Pathogenic Osteogenesis imperfecta type 8 Criteria Provided
Single Submitter

1 SubmittersRCV003495715
NM_000088.4(COL1A1):c.2451+2T>C SNV
Germline		 Chr17:50190325 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter

1 SubmittersRCV003517655
NM_000088.4(COL1A1):c.415G>T (p.Gly139Ter) SNV
Germline		 Chr17:50199282 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter

1 SubmittersRCV003517832
NM_000088.4(COL1A1):c.1354-1G>C SNV
Germline		 Chr17:50194829 Likely pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter

1 SubmittersRCV003517856
NM_000088.4(COL1A1):c.2719A>T (p.Lys907Ter) SNV
Germline		 Chr17:50189487 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter

1 SubmittersRCV003517826
NM_000088.4(COL1A1):c.598G>A (p.Gly200Ser) SNV
Germline		 Chr17:50197993 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter

1 SubmittersRCV003631375
NM_022356.4(P3H1):c.1316C>G (p.Ser439Ter) SNV
Germline		 Chr1:42754898 Pathogenic Osteogenesis imperfecta type 8 Criteria Provided
Single Submitter

1 SubmittersRCV003600596
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

2 SubmittersRCV003682056RCV004723405
NM_022356.4(P3H1):c.955C>T (p.Gln319Ter) SNV
Germline		 Chr1:42757908 Pathogenic Osteogenesis imperfecta type 8 Criteria Provided
Single Submitter

1 SubmittersRCV003601543
NM_000088.4(COL1A1):c.3653C>T (p.Ala1218Val) SNV
Germline		 Chr17:50186801 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter

1 SubmittersRCV003631741
NM_006371.5(CRTAP):c.427C>T (p.Gln143Ter) SNV
Germline		 Chr3:33114504 Pathogenic Osteogenesis imperfecta type 7 Criteria Provided
Single Submitter

1 SubmittersRCV003612873
NM_022356.4(P3H1):c.1051G>T (p.Glu351Ter) SNV
Germline		 Chr1:42757812 Pathogenic Osteogenesis imperfecta type 8 Criteria Provided
Single Submitter

1 SubmittersRCV003601802
NM_000088.4(COL1A1):c.1057G>C (p.Gly353Arg) SNV
Germline		 Chr17:50195665 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter

1 SubmittersRCV003631852
NM_022356.4(P3H1):c.1474-1G>A SNV
Germline		 Chr1:42752370 Likely pathogenic Osteogenesis imperfecta type 8 Criteria Provided
Single Submitter

1 SubmittersRCV003601734
NM_006371.5(CRTAP):c.535G>T (p.Glu179Ter) SNV
Germline		 Chr3:33120407 Pathogenic Osteogenesis imperfecta type 7 Criteria Provided
Single Submitter

1 SubmittersRCV003612838
NM_000088.4(COL1A1):c.334G>T (p.Gly112Ter) SNV
Germline		 Chr17:50199453 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter

1 SubmittersRCV003631819
NM_000088.4(COL1A1):c.2614-1G>C SNV
Germline		 Chr17:50189733 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter

1 SubmittersRCV003631839
NM_006371.5(CRTAP):c.179G>A (p.Trp60Ter) SNV
Germline		 Chr3:33114256 Pathogenic Osteogenesis imperfecta type 7 Criteria Provided
Single Submitter

1 SubmittersRCV003612910
NM_022356.4(P3H1):c.1090G>T (p.Glu364Ter) SNV
Germline		 Chr1:42755628 Pathogenic Osteogenesis imperfecta type 8 Criteria Provided
Single Submitter

1 SubmittersRCV003602171
NM_000088.4(COL1A1):c.1372G>T (p.Gly458Ter) SNV
Germline		 Chr17:50194810 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter

1 SubmittersRCV003631928
NM_000088.4(COL1A1):c.543G>T (p.Met181Ile) SNV
Germline		 Chr17:50198433 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter

1 SubmittersRCV003631900
NM_000088.4(COL1A1):c.925G>T (p.Glu309Ter) SNV
Germline		 Chr17:50196346 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter

1 SubmittersRCV003631957
NM_000088.4(COL1A1):c.2398-1G>T SNV
Germline		 Chr17:50190381 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter

1 SubmittersRCV003631913
NM_022356.4(P3H1):c.1224-2A>G SNV
Germline		 Chr1:42754992 Likely pathogenic Osteogenesis imperfecta type 8 Criteria Provided
Single Submitter

1 SubmittersRCV003602088
NM_022356.4(P3H1):c.1346-1G>A SNV
Germline		 Chr1:42752665 Pathogenic Osteogenesis imperfecta type 8 Criteria Provided
Single Submitter

1 SubmittersRCV003602322
NM_000088.4(COL1A1):c.3369+2T>C SNV
Germline		 Chr17:50187874 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter

1 SubmittersRCV003632045
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

2 SubmittersRCV003632078RCV004763745
NM_000088.4(COL1A1):c.4135C>T (p.Gln1379Ter) SNV
Germline		 Chr17:50185891 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter

1 SubmittersRCV003632097
NM_000088.4(COL1A1):c.544G>T (p.Gly182Cys) SNV
Germline		 Chr17:50198205 Likely pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter

1 SubmittersRCV003632017
NM_000088.4(COL1A1):c.976G>A (p.Gly326Ser) SNV
Germline		 Chr17:50196181 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter

1 SubmittersRCV003632064
NM_006371.5(CRTAP):c.409G>T (p.Glu137Ter) SNV
Germline		 Chr3:33114486 Pathogenic Osteogenesis imperfecta type 7 Criteria Provided
Single Submitter

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

2 SubmittersRCV003632148RCV004765946
NM_006371.5(CRTAP):c.57C>A (p.Cys19Ter) SNV
Germline		 Chr3:33114134 Pathogenic Osteogenesis imperfecta type 7 Criteria Provided
Single Submitter

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

1 SubmittersRCV003632211
NM_000088.4(COL1A1):c.1002+3G>C SNV
Germline		 Chr17:50196152 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter

1 SubmittersRCV003632248
NM_000088.4(COL1A1):c.544-2A>G SNV
Germline		 Chr17:50198207 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter

1 SubmittersRCV003632199
NM_000088.4(COL1A1):c.1310G>C (p.Gly437Ala) SNV
Germline		 Chr17:50195090 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter

1 SubmittersRCV003632439
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

2 SubmittersRCV003632432RCV004790593
NM_000088.4(COL1A1):c.3825G>T (p.Trp1275Cys) SNV
Germline		 Chr17:50186497 Likely pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter

1 SubmittersRCV003632741
NM_000088.4(COL1A1):c.3815-1G>A SNV
Germline		 Chr17:50186508 Pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter

1 SubmittersRCV003632742
NM_022356.4(P3H1):c.739G>T (p.Glu247Ter) SNV
Germline		 Chr1:42759270 Pathogenic Osteogenesis imperfecta type 8 Criteria Provided
Single Submitter

1 SubmittersRCV003601182
NM_022356.4(P3H1):c.809-1G>A SNV
Germline		 Chr1:42758984 Likely pathogenic Osteogenesis imperfecta type 8 Criteria Provided
Single Submitter

1 SubmittersRCV003601119
NM_006371.5(CRTAP):c.2T>C (p.Met1Thr) SNV
Germline		 Chr3:33114079 Pathogenic Osteogenesis imperfecta type 7 Criteria Provided
Single Submitter

1 SubmittersRCV003612380
NM_000089.4(COL1A2):c.1432G>T (p.Gly478Cys) SNV
Germline		 Chr7:94412611 Likely pathogenic Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I		 Criteria Provided
Single Submitter

1 SubmittersRCV003785493
NM_000089.4(COL1A2):c.488G>T (p.Gly163Val) SNV
Germline		 Chr7:94405674 Likely pathogenic Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I		 Criteria Provided
Single Submitter

1 SubmittersRCV003782167
NM_000089.4(COL1A2):c.542G>A (p.Gly181Glu) SNV
Germline		 Chr7:94406251 Pathogenic Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I		 Criteria Provided
Single Submitter

1 SubmittersRCV003782828
NM_000089.4(COL1A2):c.2295+1G>A SNV
Germline		 Chr7:94420649 Pathogenic Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I		 Criteria Provided
Single Submitter

1 SubmittersRCV003783314
NM_000089.4(COL1A2):c.478G>A (p.Gly160Arg) SNV
Germline		 Chr7:94405244 Pathogenic/Likely pathogenic Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003781055RCV004719392
NM_000089.4(COL1A2):c.569G>T (p.Gly190Val) SNV
Germline		 Chr7:94406278 Pathogenic Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I		 Criteria Provided
Single Submitter

1 SubmittersRCV003781056
NM_000089.4(COL1A2):c.587G>A (p.Gly196Asp) SNV
Germline		 Chr7:94406296 Pathogenic Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I
Osteogenesis imperfecta		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003781057RCV004787014
NM_000089.4(COL1A2):c.693+1G>A SNV
Germline		 Chr7:94408237 Pathogenic Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I		 Criteria Provided
Single Submitter

1 SubmittersRCV003781058
NM_000089.4(COL1A2):c.739G>C (p.Gly247Arg) SNV
Germline		 Chr7:94408770 Pathogenic Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I		 Criteria Provided
Single Submitter

1 SubmittersRCV003781059
NM_000089.4(COL1A2):c.937G>T (p.Gly313Cys) SNV
Germline		 Chr7:94409723 Pathogenic Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I		 Criteria Provided
Single Submitter

1 SubmittersRCV003781060
NM_000089.4(COL1A2):c.1154G>A (p.Gly385Glu) SNV
Germline		 Chr7:94410484 Pathogenic Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I		 Criteria Provided
Single Submitter

1 SubmittersRCV003781061
NM_000089.4(COL1A2):c.1279G>A (p.Gly427Ser) SNV
Germline		 Chr7:94411083 Pathogenic Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I		 Criteria Provided
Single Submitter

1 SubmittersRCV003781063
NM_000089.4(COL1A2):c.1630G>A (p.Gly544Ser) SNV
Germline		 Chr7:94413912 Pathogenic Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I		 Criteria Provided
Single Submitter

1 SubmittersRCV003781064
NM_000089.4(COL1A2):c.1846G>C (p.Gly616Arg) SNV
Germline		 Chr7:94416486 Pathogenic Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I		 Criteria Provided
Single Submitter

1 SubmittersRCV003781065
NM_000089.4(COL1A2):c.1863G>A (p.Lys621=) SNV
Germline		 Chr7:94416503 Pathogenic Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I		 Criteria Provided
Single Submitter

1 SubmittersRCV003781066
NM_000089.4(COL1A2):c.2359G>T (p.Gly787Cys) SNV
Germline		 Chr7:94421908 Pathogenic Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I		 Criteria Provided
Single Submitter

1 SubmittersRCV003781067
NM_000089.4(COL1A2):c.3305G>A (p.Gly1102Asp) SNV
Germline		 Chr7:94427664 Pathogenic Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I		 Criteria Provided
Single Submitter

1 SubmittersRCV003781069
NM_000089.4(COL1A2):c.432+1G>C SNV
Germline		 Chr7:94404893 Pathogenic Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I		 Criteria Provided
Single Submitter

1 SubmittersRCV003779487
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

1 SubmittersRCV003782595
NM_000089.4(COL1A2):c.2869G>A (p.Val957Ile) SNV
Germline		 Chr7:94425783 Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I
Cardiovascular phenotype		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003780341RCV004366506
NM_000089.4(COL1A2):c.704G>A (p.Gly235Asp) SNV
Germline		 Chr7:94408346 Likely pathogenic Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I		 Criteria Provided
Single Submitter

1 SubmittersRCV003787806
NM_000089.4(COL1A2):c.1405G>A (p.Gly469Ser) SNV
Germline		 Chr7:94412584 Likely pathogenic Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I		 Criteria Provided
Single Submitter

1 SubmittersRCV003787875
NM_000089.4(COL1A2):c.2711G>C (p.Gly904Ala) SNV
Germline		 Chr7:94425154 Likely pathogenic Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I		 Criteria Provided
Single Submitter

1 SubmittersRCV003788021
NM_000089.4(COL1A2):c.2558G>C (p.Gly853Ala) SNV
Germline		 Chr7:94423111 Likely pathogenic Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I		 Criteria Provided
Single Submitter

1 SubmittersRCV003793988
NM_000089.4(COL1A2):c.308G>A (p.Gly103Asp) SNV
Germline		 Chr7:94404584 Likely pathogenic Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1		 Criteria Provided
Single Submitter

1 SubmittersRCV003806104
NM_000089.4(COL1A2):c.991G>A (p.Gly331Ser) SNV
Germline		 Chr7:94409777 Likely pathogenic Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I		 Criteria Provided
Single Submitter

1 SubmittersRCV003806684
NM_000089.4(COL1A2):c.2837G>C (p.Gly946Ala) SNV
Germline		 Chr7:94425751 Likely pathogenic Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1		 Criteria Provided
Single Submitter

1 SubmittersRCV003805621
NM_000089.4(COL1A2):c.2179G>C (p.Gly727Arg) SNV
Germline		 Chr7:94420436 Likely pathogenic Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1		 Criteria Provided
Single Submitter

1 SubmittersRCV003805746
NM_000089.4(COL1A2):c.2729G>A (p.Gly910Asp) SNV
Germline		 Chr7:94425172 Likely pathogenic Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1		 Criteria Provided
Single Submitter

1 SubmittersRCV003805924
NM_000089.4(COL1A2):c.3233G>T (p.Gly1078Val) SNV
Germline		 Chr7:94427261 Likely pathogenic Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1		 Criteria Provided
Single Submitter

1 SubmittersRCV003806003
NM_000089.4(COL1A2):c.659G>A (p.Gly220Asp) SNV
Germline		 Chr7:94408202 Likely pathogenic Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta type I		 Criteria Provided
Single Submitter

1 SubmittersRCV003790711
NM_000089.4(COL1A2):c.2962G>T (p.Gly988Cys) SNV
Germline		 Chr7:94426016 Likely pathogenic Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1		 Criteria Provided
Single Submitter

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

1 SubmittersRCV003803655
NM_000089.4(COL1A2):c.2026-2A>G SNV
Germline		 Chr7:94419496 Likely pathogenic Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1		 Criteria Provided
Single Submitter

1 SubmittersRCV003795040
NM_000089.4(COL1A2):c.685G>A (p.Gly229Ser) SNV
Germline		 Chr7:94408228 Likely pathogenic Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1		 Criteria Provided
Single Submitter

1 SubmittersRCV003802706
NM_000089.4(COL1A2):c.1036-1G>T SNV
Germline		 Chr7:94410241 Pathogenic Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1		 Criteria Provided
Single Submitter

1 SubmittersRCV003800404
NM_000089.4(COL1A2):c.1775G>A (p.Gly592Asp) SNV
Germline		 Chr7:94416415 Likely pathogenic Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1		 Criteria Provided
Single Submitter

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

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

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

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

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

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

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

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

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

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

2 SubmittersRCV003816952RCV003988153
NM_022356.4(P3H1):c.273G>A (p.Trp91Ter) SNV
Germline		 Chr1:42766699 Pathogenic Osteogenesis imperfecta type 8 Criteria Provided
Single Submitter

1 SubmittersRCV003836467
NM_006371.5(CRTAP):c.1020C>G (p.Tyr340Ter) SNV
Germline		 Chr3:33132652 Pathogenic Osteogenesis imperfecta type 7 Criteria Provided
Single Submitter

1 SubmittersRCV003840008
NM_022356.4(P3H1):c.1914+2T>C SNV
Germline		 Chr1:42747721 Likely pathogenic Osteogenesis imperfecta type 8 Criteria Provided
Single Submitter

1 SubmittersRCV003857370
NM_022356.4(P3H1):c.2024G>A (p.Trp675Ter) SNV
Germline		 Chr1:42747303 Pathogenic/Likely pathogenic Osteogenesis imperfecta type 8 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003874384
NM_022356.4(P3H1):c.1720+1G>A SNV
Germline		 Chr1:42750185 Likely pathogenic Osteogenesis imperfecta type 8 Criteria Provided
Single Submitter

1 SubmittersRCV003874804
NM_006371.5(CRTAP):c.436G>T (p.Glu146Ter) SNV
Germline		 Chr3:33114513 Pathogenic Osteogenesis imperfecta type 7 Criteria Provided
Single Submitter

1 SubmittersRCV003869932
NM_000088.4(COL1A1):c.4342G>C (p.Gly1448Arg) SNV
Germline		 Chr17:50185555 Likely pathogenic Osteogenesis imperfecta with normal sclerae, dominant form Criteria Provided
Single Submitter

1 SubmittersRCV003985011
NM_000088.4(COL1A1):c.4201G>T (p.Glu1401Ter) SNV
Germline		 Chr17:50185825 Likely pathogenic Osteogenesis imperfecta, perinatal lethal
Osteogenesis imperfecta type III
Osteogenesis imperfecta with normal sclerae, dominant form
Osteogenesis imperfecta type I		 Criteria Provided
Single Submitter

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

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

1 SubmittersRCV003988694
NM_003118.4(SPARC):c.57+1G>C SNV
Germline		 Chr5:151676131 Pathogenic Osteogenesis imperfecta type 17 Criteria Provided
Single Submitter

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

2 SubmittersRCV003993584RCV004701900
NM_002615.7(SERPINF1):c.532C>T (p.Gln178Ter) SNV
Germline		 Chr17:1771964 Pathogenic Osteogenesis imperfecta type 6 Criteria Provided
Single Submitter

1 SubmittersRCV004006227
NM_000088.4(COL1A1):c.2876G>T (p.Gly959Val) SNV
Germline		 Chr17:50189229 Likely pathogenic Osteogenesis imperfecta, perinatal lethal Criteria Provided
Single Submitter

1 SubmittersRCV004515774
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

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

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

1 SubmittersRCV004577286
NM_000088.4(COL1A1):c.2829+2T>A SNV
Germline		 Chr17:50189375 Likely pathogenic Osteogenesis imperfecta Criteria Provided
Single Submitter

1 SubmittersRCV004586285
NM_000089.4(COL1A2):c.928G>A (p.Gly310Ser) SNV
Germline		 Chr7:94409600 Pathogenic Osteogenesis imperfecta, perinatal lethal Criteria Provided
Single Submitter

1 SubmittersRCV004586479
NM_000088.4(COL1A1):c.299-1G>T SNV
Germline		 Chr17:50199591 Likely pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter

1 SubmittersRCV004588582
NM_000088.4(COL1A1):c.3092G>A (p.Gly1031Asp) SNV
Germline		 Chr17:50188749 Likely pathogenic Osteogenesis imperfecta, perinatal lethal Criteria Provided
Single Submitter

1 SubmittersRCV004595308
NM_005430.4(WNT1):c.397G>A (p.Ala133Thr) SNV
Germline		 Chr12:48980462 Likely pathogenic Osteogenesis imperfecta Criteria Provided
Single Submitter

1 SubmittersRCV004690731
NM_000089.4(COL1A2):c.1207G>T (p.Gly403Cys) SNV
Unknown		 Chr7:94410898 Likely pathogenic Osteogenesis imperfecta type III Criteria Provided
Single Submitter

1 SubmittersRCV004698390
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 Likely pathogenic Osteogenesis imperfecta type I Criteria Provided
Single Submitter

1 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_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.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 Likely pathogenic Osteogenesis imperfecta with normal sclerae, dominant form No Assertion Criteria Provided

1 SubmittersRCV004768475
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_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_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_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_001173467.3(SP7):c.810C>A (p.Cys270Ter) SNV
Germline		 Chr12:53328632 Likely pathogenic Osteogenesis imperfecta type 12 Criteria Provided
Single Submitter

1 SubmittersRCV005002090