Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000088.4(COL1A1):c.814G>T (p.Gly272Cys)	SNV Germline	Chr17:50196661	Pathogenic	Osteogenesis imperfecta type I Infantile cortical hyperostosis	Criteria Provided Multiple Submitters No Conflicts	CA281082	rs_72645331	3 SubmittersRCV000018826 RCV002247357
NM_000088.4(COL1A1):c.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 SubmittersRCV000685879 RCV000420639 RCV000018889 RCV000763407
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 SubmittersRCV000029552 RCV000262664 RCV000320157 RCV000367913 RCV000560142 RCV000521409 RCV000599940 RCV002276573 RCV002399337 RCV004737164
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 SubmittersRCV000029559 RCV000872415 RCV001125671 RCV001125670 RCV001703422 RCV002251930
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 SubmittersRCV000029570 RCV000177893 RCV000300080 RCV000368843 RCV000527836 RCV001703423 RCV002276574 RCV002426520
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 SubmittersRCV000537025 RCV000607797 RCV000608881 RCV000680480 RCV001125486 RCV001125488 RCV001535421 RCV002276575 RCV002433474 RCV001125487
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 SubmittersRCV000029575 RCV000498745 RCV000551341 RCV001814012 RCV002504826 RCV001535575 RCV004737165
NM_000088.4(COL1A1):c.1400G>A (p.Gly467Glu)	SNV Germline	Chr17:50194782	Likely pathogenic	Infantile cortical hyperostosis	Criteria Provided Single Submitter		rs_267604943	1 SubmittersRCV002052292
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 SubmittersRCV000177437 RCV000514224 RCV000659353 RCV000989945 RCV001127681 RCV001127682 RCV001125582 RCV002277393 RCV002415762 RCV003993859 RCV004552992
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 SubmittersRCV000203035 RCV000224220 RCV000487429 RCV000659348 RCV001082142 RCV001124960 RCV001124961 RCV002277557 RCV002354572
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 SubmittersRCV000490355 RCV000877791 RCV001127361 RCV001126949 RCV001127360 RCV002277572 RCV003324521 RCV002298529 RCV002347820 RCV003319187 RCV004737336
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 SubmittersRCV000377775 RCV000631511 RCV001124863 RCV001124862 RCV001124861 RCV001711850 RCV002278262 RCV002411144 RCV004547656
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 SubmittersRCV000307161 RCV000864424 RCV001127852 RCV001127854 RCV001127853 RCV001711856 RCV002401987
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 SubmittersRCV000319514 RCV001127365 RCV001127366 RCV001127367 RCV001296479 RCV002348009
NM_000088.4(COL1A1):c.*378C>G	SNV Germline	Chr17:50185124	Conflicting classifications of pathogenicity	Osteogenesis imperfecta Infantile cortical hyperostosis Ehlers-Danlos syndrome, arthrochalasia type Condition: not provided	Criteria Provided Conflicting Classifications	CA10640055	rs_148131473	2 SubmittersRCV000282462 RCV000316593 RCV000374673 RCV002510861
NM_000088.4(COL1A1):c.3099+7T>C	SNV Germline	Chr17:50188735	Conflicting classifications of pathogenicity	Infantile cortical hyperostosis Ehlers-Danlos syndrome, arthrochalasia type Osteogenesis imperfecta not specified Condition: not provided Connective tissue disorder Osteogenesis imperfecta type I Ehlers-Danlos syndrome	Criteria Provided Conflicting Classifications	CA8644578	rs_201682029	11 SubmittersRCV000291739 RCV000346597 RCV000399463 RCV000444155 RCV000527323 RCV000659356 RCV001087478 RCV002278492
NM_000088.4(COL1A1):c.2743C>T (p.Pro915Ser)	SNV Germline	Chr17:50189463	Conflicting classifications of pathogenicity	Osteogenesis imperfecta Ehlers-Danlos syndrome, arthrochalasia type Infantile cortical hyperostosis Condition: not provided Ehlers-Danlos syndrome Osteogenesis imperfecta type I	Criteria Provided Conflicting Classifications	CA8644692	rs_756337302	4 SubmittersRCV000283301 RCV000343018 RCV000392300 RCV001533845 RCV002278493 RCV001345234
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 SubmittersRCV000297504 RCV000355103 RCV000404386 RCV000609843 RCV001411271 RCV002374553
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 SubmittersRCV000287980 RCV000347596 RCV000407725 RCV003168478 RCV002522988
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 SubmittersRCV000304006 RCV000354143 RCV000404536 RCV000543436 RCV001718678
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 SubmittersRCV000275662 RCV000333042 RCV000389869 RCV000730396 RCV000841032 RCV001080239 RCV002278496
NM_000088.4(COL1A1):c.627C>T (p.Gly209=)	SNV Germline	Chr17:50197964	Conflicting classifications of pathogenicity	Ehlers-Danlos syndrome, arthrochalasia type Infantile cortical hyperostosis Osteogenesis imperfecta Condition: not provided Osteogenesis imperfecta type I Cardiovascular phenotype Ehlers-Danlos syndrome	Criteria Provided Conflicting Classifications	CA8645632	rs_201136122	7 SubmittersRCV000298870 RCV000355982 RCV000392198 RCV000726816 RCV001079759 RCV002365387 RCV002278497
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 SubmittersRCV000276290 RCV000311677 RCV000368586 RCV000542211 RCV002348068 RCV001555722
NM_000088.4(COL1A1):c.229G>A (p.Glu77Lys)	SNV Germline	Chr17:50199822	Conflicting classifications of pathogenicity	Infantile cortical hyperostosis Osteogenesis imperfecta Ehlers-Danlos syndrome, arthrochalasia type Osteogenesis imperfecta type I	Criteria Provided Conflicting Classifications	CA8645806	rs_753683126	2 SubmittersRCV000278484 RCV000323135 RCV000380061 RCV002522989
NM_000088.4(COL1A1):c.-23G>A	SNV Germline	Chr17:50201536	Conflicting classifications of pathogenicity	Infantile cortical hyperostosis Osteogenesis imperfecta Ehlers-Danlos syndrome, arthrochalasia type	Criteria Provided Conflicting Classifications	CA8645899	rs_200689194	1 SubmittersRCV000302289 RCV000365246 RCV000392860
NM_000088.4(COL1A1):c.*1165C>G	SNV Germline	Chr17:50184337	Conflicting classifications of pathogenicity	Infantile cortical hyperostosis Osteogenesis imperfecta Ehlers-Danlos syndrome, arthrochalasia type Condition: not provided	Criteria Provided Conflicting Classifications	CA10649639	rs_149419718	3 SubmittersRCV000261749 RCV000319203 RCV000377245 RCV001848666
NM_000088.4(COL1A1):c.*202A>G	SNV Germline	Chr17:50185300	Conflicting classifications of pathogenicity	Ehlers-Danlos syndrome, arthrochalasia type Infantile cortical hyperostosis Osteogenesis imperfecta Condition: not provided	Criteria Provided Conflicting Classifications	CA10649649	rs_564917505	2 SubmittersRCV000270815 RCV000315320 RCV000369990 RCV002510862
NM_000088.4(COL1A1):c.4372G>A (p.Val1458Ile)	SNV Germline	Chr17:50185525	Conflicting classifications of pathogenicity	Infantile cortical hyperostosis Ehlers-Danlos syndrome, arthrochalasia type Osteogenesis imperfecta Osteogenesis imperfecta type I Condition: not provided	Criteria Provided Conflicting Classifications	CA8644169	rs_138557594	3 SubmittersRCV000313055 RCV000338677 RCV000407503 RCV000798385 RCV001590959
NM_000088.4(COL1A1):c.3233T>C (p.Val1078Ala)	SNV Germline	Chr17:50188124	Conflicting classifications of pathogenicity	Osteogenesis imperfecta Ehlers-Danlos syndrome, arthrochalasia type Infantile cortical hyperostosis Condition: not provided Osteogenesis imperfecta type I 7 conditions Cardiovascular phenotype Ehlers-Danlos syndrome COL1A1-related disorder	Criteria Provided Conflicting Classifications	CA8644518	rs_767525556	7 SubmittersRCV000259210 RCV000319126 RCV000355446 RCV000521091 RCV000695671 RCV000765369 RCV002323528 RCV002278491 RCV004737438
NM_000088.4(COL1A1):c.2467C>G (p.Pro823Ala)	SNV Germline	Chr17:50190093	Conflicting classifications of pathogenicity	Infantile cortical hyperostosis Ehlers-Danlos syndrome, arthrochalasia type Osteogenesis imperfecta Condition: not provided Osteogenesis imperfecta type I Ehlers-Danlos syndrome Cardiovascular phenotype COL1A1-related disorder	Criteria Provided Conflicting Classifications	CA8644787	rs_1800214	6 SubmittersRCV000268773 RCV000315437 RCV000363370 RCV000438177 RCV001087908 RCV002278494 RCV002446584 RCV004549711
NM_000088.4(COL1A1):c.*981G>C	SNV Germline	Chr17:50184521	Conflicting classifications of pathogenicity	Osteogenesis imperfecta Infantile cortical hyperostosis Ehlers-Danlos syndrome, arthrochalasia type Condition: not provided	Criteria Provided Conflicting Classifications	CA10650523	rs_574167621	2 SubmittersRCV000301902 RCV000340545 RCV000402935 RCV003409509
NM_000088.4(COL1A1):c.*21G>C	SNV Germline	Chr17:50185481	Conflicting classifications of pathogenicity	Osteogenesis imperfecta Infantile cortical hyperostosis Ehlers-Danlos syndrome, arthrochalasia type	Criteria Provided Conflicting Classifications	CA8644160	rs_201085309	1 SubmittersRCV000279151 RCV000342367 RCV000373598
NM_000088.4(COL1A1):c.3815-12G>T	SNV Germline	Chr17:50186519	Conflicting classifications of pathogenicity	Osteogenesis imperfecta Infantile cortical hyperostosis Ehlers-Danlos syndrome, arthrochalasia type Condition: not provided Osteogenesis imperfecta type I not specified	Criteria Provided Conflicting Classifications	CA8644332	rs_201066018	4 SubmittersRCV000292780 RCV000351084 RCV000387080 RCV000827217 RCV002056611 RCV004782357
NM_000088.4(COL1A1):c.3169G>A (p.Val1057Ile)	SNV Germline	Chr17:50188568	Conflicting classifications of pathogenicity	Ehlers-Danlos syndrome, arthrochalasia type Infantile cortical hyperostosis Osteogenesis imperfecta 7 conditions Condition: not provided Osteogenesis imperfecta type I	Criteria Provided Conflicting Classifications	CA8644548	rs_575285203	4 SubmittersRCV000274658 RCV000329876 RCV000389062 RCV000765370 RCV000828389 RCV001084727
NM_000088.4(COL1A1):c.649A>T (p.Met217Leu)	SNV Germline	Chr17:50197779	Conflicting classifications of pathogenicity	Infantile cortical hyperostosis Osteogenesis imperfecta Ehlers-Danlos syndrome, arthrochalasia type Condition: not provided Osteogenesis imperfecta type I	Criteria Provided Conflicting Classifications	CA10650543	rs_763409550	3 SubmittersRCV000285300 RCV000342628 RCV000392202 RCV000710774 RCV002521115
NM_000088.4(COL1A1):c.334-5C>A	SNV Germline	Chr17:50199458	Conflicting classifications of pathogenicity	Ehlers-Danlos syndrome, arthrochalasia type Infantile cortical hyperostosis Osteogenesis imperfecta Condition: not provided Osteogenesis imperfecta type I See cases Cardiovascular phenotype COL1A1-related disorder	Criteria Provided Conflicting Classifications	CA8645741	rs_115997082	7 SubmittersRCV000271447 RCV000333833 RCV000362772 RCV000497393 RCV001514913 RCV002252095 RCV002323529 RCV004549712
NM_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 SubmittersRCV000434641 RCV001125757 RCV000540512 RCV001125756 RCV001127851 RCV000766720 RCV004609378 RCV002279198
NM_000088.4(COL1A1):c.4339G>A (p.Val1447Ile)	SNV Germline	Chr17:50185558	Conflicting classifications of pathogenicity	Condition: not provided Osteogenesis imperfecta Ehlers-Danlos syndrome, arthrochalasia type Infantile cortical hyperostosis Osteogenesis imperfecta type I	Criteria Provided Conflicting Classifications	CA8644177	rs_367952133	3 SubmittersRCV000430536 RCV001126857 RCV001126859 RCV001126858 RCV002521553
NM_000088.4(COL1A1):c.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 SubmittersRCV000659352 RCV001125674 RCV001125673 RCV001125672 RCV001508818 RCV002279235 RCV002413314 RCV004737549
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 SubmittersRCV000490739 RCV000586484 RCV000755941 RCV001814161 RCV002281097
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 SubmittersRCV000490754 RCV000516899 RCV001262344 RCV002475959 RCV003313958 RCV004760530 RCV004796193 RCV004722824
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 SubmittersRCV000516192 RCV001125940 RCV001125941 RCV001125942 RCV003419892 RCV002060235
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 SubmittersRCV000530956 RCV001124398 RCV001125395 RCV001125394 RCV002279333 RCV002456053
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 SubmittersRCV000553010 RCV001084966 RCV001125754 RCV001125753 RCV001125755 RCV002279326 RCV002448621
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 SubmittersRCV000877735 RCV001125579 RCV001125581 RCV001125580 RCV001697902 RCV002431790 RCV004547731
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 SubmittersRCV000612179 RCV001124764 RCV001124765 RCV001121994 RCV001701056 RCV002063266
NM_000088.4(COL1A1):c.251C>G (p.Ala84Gly)	SNV Germline	Chr17:50199800	Conflicting classifications of pathogenicity	Osteogenesis imperfecta type I Infantile cortical hyperostosis Osteogenesis imperfecta Ehlers-Danlos syndrome, arthrochalasia type Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA8645804	rs_775095655	4 SubmittersRCV000631478 RCV001128045 RCV001128044 RCV001128046 RCV001591407 RCV002431861
NM_000088.4(COL1A1):c.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 SubmittersRCV000631488 RCV001566557 RCV002279451 RCV002279450 RCV002448936 RCV003330848 RCV004737908
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 SubmittersRCV000659360 RCV000689162 RCV001123293 RCV001123294 RCV001124397 RCV001549827
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 SubmittersRCV000786920 RCV001091447 RCV001122287 RCV001122286 RCV001122288 RCV002279529 RCV004027358 RCV004738003
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 SubmittersRCV000871482 RCV001125399 RCV001125400 RCV001125401 RCV001289259 RCV002442860
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 SubmittersRCV001124579 RCV001124580 RCV001125578 RCV001512876 RCV004702498
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 SubmittersRCV000952091 RCV001125397 RCV001125398 RCV001125396 RCV002320169
NM_000088.4(COL1A1):c.462C>T (p.Gly154=)	SNV Germline	Chr17:50199235	Conflicting classifications of pathogenicity	Condition: not provided Infantile cortical hyperostosis Ehlers-Danlos syndrome, arthrochalasia type Osteogenesis imperfecta Osteogenesis imperfecta type I Cardiovascular phenotype COL1A1-related disorder	Criteria Provided Conflicting Classifications		rs_41317351	5 SubmittersRCV000951771 RCV001125938 RCV001124962 RCV001125939 RCV001514154 RCV002336998 RCV004553407
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 SubmittersRCV000960716 RCV001127263 RCV001127264 RCV001127265 RCV002327192
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 SubmittersRCV001058869 RCV001121991 RCV001121992 RCV001090964 RCV001121993 RCV002393283
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 SubmittersRCV001128603 RCV001128601 RCV001128602 RCV001779120
NM_000088.4(COL1A1):c.*1011T>C	SNV Germline	Chr17:50184491	Conflicting classifications of pathogenicity	Infantile cortical hyperostosis Ehlers-Danlos syndrome, arthrochalasia type Osteogenesis imperfecta Condition: not provided	Criteria Provided Conflicting Classifications		rs_1061970	2 SubmittersRCV001122905 RCV001122904 RCV001128604 RCV001615120
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 SubmittersRCV001123976 RCV001123975 RCV001123977
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 SubmittersRCV001123014 RCV001123016 RCV001123015
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 SubmittersRCV001123093 RCV001127152 RCV001127151
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 SubmittersRCV001126861 RCV001126862 RCV001126860
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 SubmittersRCV001124276 RCV001124278 RCV001124277 RCV001856637
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 SubmittersRCV001127362 RCV001127363 RCV001127364 RCV001856661 RCV002276632 RCV003222227 RCV002348571
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 SubmittersRCV001123292 RCV001123290 RCV001123291 RCV002451330 RCV003631175
NM_000088.4(COL1A1):c.3247G>A (p.Ala1083Thr)	SNV Germline	Chr17:50188110	Conflicting classifications of pathogenicity	Infantile cortical hyperostosis Ehlers-Danlos syndrome, arthrochalasia type Osteogenesis imperfecta Osteogenesis imperfecta type I Cardiovascular phenotype Condition: not provided	Criteria Provided Conflicting Classifications		rs_372029024	4 SubmittersRCV001127483 RCV001127481 RCV001127482 RCV001219328 RCV003380850 RCV003480969
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 SubmittersRCV001123493 RCV001123492 RCV001123491 RCV001494295 RCV002451332 RCV003736990
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 SubmittersRCV001125750 RCV001125751 RCV001125752 RCV002556724 RCV003283992
NM_000088.4(COL1A1):c.1045G>T (p.Val349Phe)	SNV Germline	Chr17:50195934	Conflicting classifications of pathogenicity	Infantile cortical hyperostosis Ehlers-Danlos syndrome, arthrochalasia type Osteogenesis imperfecta Osteogenesis imperfecta type I Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_72645362	5 SubmittersRCV001122082 RCV001122083 RCV001122084 RCV001724251 RCV003480966 RCV004994255
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 SubmittersRCV001124858 RCV001124860 RCV001124859 RCV002070034 RCV002348569 RCV003128813
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 SubmittersRCV001125067 RCV001125069 RCV001125068
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 SubmittersRCV001126042 RCV001126041 RCV001126040 RCV003145355
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 SubmittersRCV001126946 RCV001126947 RCV001126948 RCV002556768
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 SubmittersRCV001121987 RCV001127771 RCV001127770 RCV002069980
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 SubmittersRCV001122081 RCV001122080 RCV001127855 RCV002069982
NM_000088.4(COL1A1):c.3398G>A (p.Gly1133Glu)	SNV Unknown	Chr17:50187509	Likely pathogenic	Infantile cortical hyperostosis	Criteria Provided Single Submitter		rs_1906659084	1 SubmittersRCV001330771
NM_000088.4(COL1A1):c.2633G>C (p.Gly878Ala)	SNV Germline	Chr17:50189713	Likely pathogenic	Infantile cortical hyperostosis	Criteria Provided Single Submitter		rs_2144551547	1 SubmittersRCV002248994
NM_000088.4(COL1A1):c.1733G>A (p.Gly578Asp)	SNV Germline	Chr17:50193977	Likely pathogenic	Infantile cortical hyperostosis	Criteria Provided Single Submitter		rs_2144569208	1 SubmittersRCV002248996
NM_000088.4(COL1A1):c.887G>T (p.Gly296Val)	SNV Germline	Chr17:50196500	Likely pathogenic	Infantile cortical hyperostosis	Criteria Provided Single Submitter		rs_1567761800	1 SubmittersRCV002248997
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 SubmittersRCV002248998 RCV003631230
NM_000088.4(COL1A1):c.1192G>C (p.Gly398Arg)	SNV Germline	Chr17:50195442	Pathogenic	Infantile cortical hyperostosis	Criteria Provided Single Submitter		rs_72648319	1 SubmittersRCV002249374
NM_000088.4(COL1A1):c.2752C>T (p.Arg918Cys)	SNV Germline	Chr17:50189454	Pathogenic	Infantile cortical hyperostosis	Criteria Provided Single Submitter			1 SubmittersRCV004596035

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

SNV
Germline

Chr17:50196661

Pathogenic

Osteogenesis imperfecta type I
Infantile cortical hyperostosis

Criteria Provided
Multiple Submitters
No Conflicts

CA281082

rs_72645331

3 SubmittersRCV000018826 RCV002247357

NM_000088.4(COL1A1):c.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 SubmittersRCV000685879 RCV000420639 RCV000018889 RCV000763407

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 SubmittersRCV000029552 RCV000262664 RCV000320157 RCV000367913 RCV000560142 RCV000521409 RCV000599940 RCV002276573 RCV002399337 RCV004737164

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 SubmittersRCV000029559 RCV000872415 RCV001125671 RCV001125670 RCV001703422 RCV002251930

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 SubmittersRCV000029570 RCV000177893 RCV000300080 RCV000368843 RCV000527836 RCV001703423 RCV002276574 RCV002426520

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 SubmittersRCV000537025 RCV000607797 RCV000608881 RCV000680480 RCV001125486 RCV001125488 RCV001535421 RCV002276575 RCV002433474 RCV001125487

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 SubmittersRCV000029575 RCV000498745 RCV000551341 RCV001814012 RCV002504826 RCV001535575 RCV004737165

NM_000088.4(COL1A1):c.1400G>A (p.Gly467Glu)

SNV
Germline

Chr17:50194782

Likely pathogenic

Infantile cortical hyperostosis

Criteria Provided
Single Submitter

rs_267604943

1 SubmittersRCV002052292

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 SubmittersRCV000177437 RCV000514224 RCV000659353 RCV000989945 RCV001127681 RCV001127682 RCV001125582 RCV002277393 RCV002415762 RCV003993859 RCV004552992

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 SubmittersRCV000203035 RCV000224220 RCV000487429 RCV000659348 RCV001082142 RCV001124960 RCV001124961 RCV002277557 RCV002354572

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 SubmittersRCV000490355 RCV000877791 RCV001127361 RCV001126949 RCV001127360 RCV002277572 RCV003324521 RCV002298529 RCV002347820 RCV003319187 RCV004737336

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 SubmittersRCV000377775 RCV000631511 RCV001124863 RCV001124862 RCV001124861 RCV001711850 RCV002278262 RCV002411144 RCV004547656

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 SubmittersRCV000307161 RCV000864424 RCV001127852 RCV001127854 RCV001127853 RCV001711856 RCV002401987

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 SubmittersRCV000319514 RCV001127365 RCV001127366 RCV001127367 RCV001296479 RCV002348009

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

SNV
Germline

Chr17:50185124

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10640055

rs_148131473

2 SubmittersRCV000282462 RCV000316593 RCV000374673 RCV002510861

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

SNV
Germline

Chr17:50188735

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8644578

rs_201682029

11 SubmittersRCV000291739 RCV000346597 RCV000399463 RCV000444155 RCV000527323 RCV000659356 RCV001087478 RCV002278492

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

SNV
Germline

Chr17:50189463

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8644692

rs_756337302

4 SubmittersRCV000283301 RCV000343018 RCV000392300 RCV001533845 RCV002278493 RCV001345234

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 SubmittersRCV000297504 RCV000355103 RCV000404386 RCV000609843 RCV001411271 RCV002374553

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 SubmittersRCV000287980 RCV000347596 RCV000407725 RCV003168478 RCV002522988

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 SubmittersRCV000304006 RCV000354143 RCV000404536 RCV000543436 RCV001718678

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 SubmittersRCV000275662 RCV000333042 RCV000389869 RCV000730396 RCV000841032 RCV001080239 RCV002278496

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

SNV
Germline

Chr17:50197964

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8645632

rs_201136122

7 SubmittersRCV000298870 RCV000355982 RCV000392198 RCV000726816 RCV001079759 RCV002365387 RCV002278497

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 SubmittersRCV000276290 RCV000311677 RCV000368586 RCV000542211 RCV002348068 RCV001555722

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

SNV
Germline

Chr17:50199822

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8645806

rs_753683126

2 SubmittersRCV000278484 RCV000323135 RCV000380061 RCV002522989

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

SNV
Germline

Chr17:50201536

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8645899

rs_200689194

1 SubmittersRCV000302289 RCV000365246 RCV000392860

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

SNV
Germline

Chr17:50184337

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10649639

rs_149419718

3 SubmittersRCV000261749 RCV000319203 RCV000377245 RCV001848666

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

SNV
Germline

Chr17:50185300

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10649649

rs_564917505

2 SubmittersRCV000270815 RCV000315320 RCV000369990 RCV002510862

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

SNV
Germline

Chr17:50185525

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8644169

rs_138557594

3 SubmittersRCV000313055 RCV000338677 RCV000407503 RCV000798385 RCV001590959

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

SNV
Germline

Chr17:50188124

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8644518

rs_767525556

7 SubmittersRCV000259210 RCV000319126 RCV000355446 RCV000521091 RCV000695671 RCV000765369 RCV002323528 RCV002278491 RCV004737438

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

SNV
Germline

Chr17:50190093

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8644787

rs_1800214

6 SubmittersRCV000268773 RCV000315437 RCV000363370 RCV000438177 RCV001087908 RCV002278494 RCV002446584 RCV004549711

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

SNV
Germline

Chr17:50184521

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10650523

rs_574167621

2 SubmittersRCV000301902 RCV000340545 RCV000402935 RCV003409509

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

SNV
Germline

Chr17:50185481

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8644160

rs_201085309

1 SubmittersRCV000279151 RCV000342367 RCV000373598

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

SNV
Germline

Chr17:50186519

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8644332

rs_201066018

4 SubmittersRCV000292780 RCV000351084 RCV000387080 RCV000827217 RCV002056611 RCV004782357

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

SNV
Germline

Chr17:50188568

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8644548

rs_575285203

4 SubmittersRCV000274658 RCV000329876 RCV000389062 RCV000765370 RCV000828389 RCV001084727

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

SNV
Germline

Chr17:50197779

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10650543

rs_763409550

3 SubmittersRCV000285300 RCV000342628 RCV000392202 RCV000710774 RCV002521115

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

SNV
Germline

Chr17:50199458

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8645741

rs_115997082

7 SubmittersRCV000271447 RCV000333833 RCV000362772 RCV000497393 RCV001514913 RCV002252095 RCV002323529 RCV004549712

NM_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 SubmittersRCV000434641 RCV001125757 RCV000540512 RCV001125756 RCV001127851 RCV000766720 RCV004609378 RCV002279198

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

SNV
Germline

Chr17:50185558

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8644177

rs_367952133

3 SubmittersRCV000430536 RCV001126857 RCV001126859 RCV001126858 RCV002521553

NM_000088.4(COL1A1):c.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 SubmittersRCV000659352 RCV001125674 RCV001125673 RCV001125672 RCV001508818 RCV002279235 RCV002413314 RCV004737549

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 SubmittersRCV000490739 RCV000586484 RCV000755941 RCV001814161 RCV002281097

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 SubmittersRCV000490754 RCV000516899 RCV001262344 RCV002475959 RCV003313958 RCV004760530 RCV004796193 RCV004722824

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 SubmittersRCV000516192 RCV001125940 RCV001125941 RCV001125942 RCV003419892 RCV002060235

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 SubmittersRCV000530956 RCV001124398 RCV001125395 RCV001125394 RCV002279333 RCV002456053

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 SubmittersRCV000553010 RCV001084966 RCV001125754 RCV001125753 RCV001125755 RCV002279326 RCV002448621

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 SubmittersRCV000877735 RCV001125579 RCV001125581 RCV001125580 RCV001697902 RCV002431790 RCV004547731

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 SubmittersRCV000612179 RCV001124764 RCV001124765 RCV001121994 RCV001701056 RCV002063266

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

SNV
Germline

Chr17:50199800

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8645804

rs_775095655

4 SubmittersRCV000631478 RCV001128045 RCV001128044 RCV001128046 RCV001591407 RCV002431861

NM_000088.4(COL1A1):c.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 SubmittersRCV000631488 RCV001566557 RCV002279451 RCV002279450 RCV002448936 RCV003330848 RCV004737908

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 SubmittersRCV000659360 RCV000689162 RCV001123293 RCV001123294 RCV001124397 RCV001549827

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 SubmittersRCV000786920 RCV001091447 RCV001122287 RCV001122286 RCV001122288 RCV002279529 RCV004027358 RCV004738003

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 SubmittersRCV000871482 RCV001125399 RCV001125400 RCV001125401 RCV001289259 RCV002442860

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 SubmittersRCV001124579 RCV001124580 RCV001125578 RCV001512876 RCV004702498

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 SubmittersRCV000952091 RCV001125397 RCV001125398 RCV001125396 RCV002320169

NM_000088.4(COL1A1):c.462C>T (p.Gly154=)

SNV
Germline

Chr17:50199235

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_41317351

5 SubmittersRCV000951771 RCV001125938 RCV001124962 RCV001125939 RCV001514154 RCV002336998 RCV004553407

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 SubmittersRCV000960716 RCV001127263 RCV001127264 RCV001127265 RCV002327192

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 SubmittersRCV001058869 RCV001121991 RCV001121992 RCV001090964 RCV001121993 RCV002393283

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 SubmittersRCV001128603 RCV001128601 RCV001128602 RCV001779120

NM_000088.4(COL1A1):c.*1011T>C

SNV
Germline

Chr17:50184491

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1061970

2 SubmittersRCV001122905 RCV001122904 RCV001128604 RCV001615120

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 SubmittersRCV001123976 RCV001123975 RCV001123977

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 SubmittersRCV001123014 RCV001123016 RCV001123015

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 SubmittersRCV001123093 RCV001127152 RCV001127151

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 SubmittersRCV001126861 RCV001126862 RCV001126860

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 SubmittersRCV001124276 RCV001124278 RCV001124277 RCV001856637

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 SubmittersRCV001127362 RCV001127363 RCV001127364 RCV001856661 RCV002276632 RCV003222227 RCV002348571

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 SubmittersRCV001123292 RCV001123290 RCV001123291 RCV002451330 RCV003631175

NM_000088.4(COL1A1):c.3247G>A (p.Ala1083Thr)

SNV
Germline

Chr17:50188110

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_372029024

4 SubmittersRCV001127483 RCV001127481 RCV001127482 RCV001219328 RCV003380850 RCV003480969

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 SubmittersRCV001123493 RCV001123492 RCV001123491 RCV001494295 RCV002451332 RCV003736990

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 SubmittersRCV001125750 RCV001125751 RCV001125752 RCV002556724 RCV003283992

NM_000088.4(COL1A1):c.1045G>T (p.Val349Phe)

SNV
Germline

Chr17:50195934

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_72645362

5 SubmittersRCV001122082 RCV001122083 RCV001122084 RCV001724251 RCV003480966 RCV004994255

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 SubmittersRCV001124858 RCV001124860 RCV001124859 RCV002070034 RCV002348569 RCV003128813

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 SubmittersRCV001125067 RCV001125069 RCV001125068

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 SubmittersRCV001126042 RCV001126041 RCV001126040 RCV003145355

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 SubmittersRCV001126946 RCV001126947 RCV001126948 RCV002556768

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 SubmittersRCV001121987 RCV001127771 RCV001127770 RCV002069980

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 SubmittersRCV001122081 RCV001122080 RCV001127855 RCV002069982

NM_000088.4(COL1A1):c.3398G>A (p.Gly1133Glu)

SNV
Unknown

Chr17:50187509

Likely pathogenic

Infantile cortical hyperostosis

Criteria Provided
Single Submitter

rs_1906659084

1 SubmittersRCV001330771

NM_000088.4(COL1A1):c.2633G>C (p.Gly878Ala)

SNV
Germline

Chr17:50189713

Likely pathogenic

Infantile cortical hyperostosis

Criteria Provided
Single Submitter

rs_2144551547

1 SubmittersRCV002248994

NM_000088.4(COL1A1):c.1733G>A (p.Gly578Asp)

SNV
Germline

Chr17:50193977

Likely pathogenic

Infantile cortical hyperostosis

Criteria Provided
Single Submitter

rs_2144569208

1 SubmittersRCV002248996

NM_000088.4(COL1A1):c.887G>T (p.Gly296Val)

SNV
Germline

Chr17:50196500

Likely pathogenic

Infantile cortical hyperostosis

Criteria Provided
Single Submitter

rs_1567761800

1 SubmittersRCV002248997

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 SubmittersRCV002248998 RCV003631230

NM_000088.4(COL1A1):c.1192G>C (p.Gly398Arg)

SNV
Germline

Chr17:50195442

Pathogenic

Infantile cortical hyperostosis

Criteria Provided
Single Submitter

rs_72648319

1 SubmittersRCV002249374

NM_000088.4(COL1A1):c.2752C>T (p.Arg918Cys)

SNV
Germline

Chr17:50189454

Pathogenic

Infantile cortical hyperostosis

Criteria Provided
Single Submitter

1 SubmittersRCV004596035