MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO

Disease Browser
Parent Node: Collagen Diseases (D003095)
Parent Node: Genetic Diseases, Inborn (D030342)
Parent Node: Osteochondrodysplasias (D010009)
..Starting node ..Osteogenesis Imperfecta (D010013)
Child Nodes:
........Al Gazali Sabrinathan Nair syndrome (C535617)
........Astley-Kendall syndrome (C535392)
........Bruck syndrome 1 (C537406)
........Bruck syndrome 2 (C537407)
........Cole Carpenter syndrome (C535963)
........GNATHODIAPHYSEAL DYSPLASIA (OMIM:166260)
........Grant syndrome (C537293)
........Lowry Maclean syndrome (C537037)
........OI-EDS Combined Syndrome (C565178)
........Osteogenesis imperfecta congenita, microcephaly, and cataracts (C537558)
........Osteogenesis Imperfecta Type VII (C565200)
........Osteogenesis Imperfecta with Opalescent Teeth, Blue Sclerae and Wormian Bones, but Without Fractures (C563487)
........Osteogenesis imperfecta, Levin type (C536039)
........Osteogenesis imperfecta, type 1A (C536041)
........Osteogenesis imperfecta, type 2A (C536042)
........Osteogenesis imperfecta, type 2B (C536043)
........Osteogenesis imperfecta, type 3 (C536044)
........Osteogenesis imperfecta, type 4 (C536045)
........Osteogenesis imperfecta, type 5 (C536046)
........Osteogenesis imperfecta, type 6 (C536047)
........Osteogenesis imperfecta, type 7 (C536048)
........Osteogenesis Imperfecta, Type IX (C564921)
........Osteogenesis Imperfecta, Type V (C567042)
........Osteogenesis imperfecta, type VIII (C536049)
........OSTEOGENESIS IMPERFECTA, TYPE X (OMIM:613848)
........OSTEOGENESIS IMPERFECTA, TYPE XI (OMIM:610968)
........OSTEOGENESIS IMPERFECTA, TYPE XII (OMIM:613849)
........OSTEOGENESIS IMPERFECTA, TYPE XIII (OMIM:614856)
........OSTEOGENESIS IMPERFECTA, TYPE XIV (OMIM:615066)
........OSTEOGENESIS IMPERFECTA, TYPE XV (OMIM:615220)
........OSTEOGENESIS IMPERFECTA, TYPE XVII (OMIM:616507)
........Osteopenic Nonfracture Syndrome (C567172)
........Osteoporosis-pseudoglioma syndrome (C536063)
Sister Nodes:
..Achondrogenesis (C579878)
..Achondroplasia (D000130) 21
..Acquired Hyperostosis Syndrome (D020083)
..Acrodysostosis (C538179)
..Acrodysplasia scoliosis (C538180)
..Acrodysplasia with ossification abnormalities, short stature, and fibular hypoplasia (C538181)
..Acromesomelic dysplasia (C535658) 1
..Acromesomelic dysplasia Campailla-Martinelli type (C535659)
..Acropectorovertebral Dysplasia, F-Form (C566319)
..Akaba Hayasaka syndrome (C535609)
..Anauxetic dysplasia (C538256)
..Atelosteogenesis type 2 (C535395)
..Atelosteogenesis Type 3 (C579928)
..Atelosteogenesis, type 1 (C535396)
..ATELOSTEOGENESIS, TYPE III (OMIM:108721)
..Auriculoosteodysplasia (C538271)
..Boomerang dysplasia (C536573)
..Brachyolmia (C537098)
..Brachyolmia Type 2 (C563218)
..Brachyolmia Type 3 (C562963)
..Brachyolmia, recessive Hobaek type (C537099)
..Camurati-Engelmann Syndrome (D003966) 4
..Cantu syndrome (C535572)
..Cartilage hair hypoplasia like syndrome (C535915)
..Cartilage-hair hypoplasia (C535916)
..CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA (OMIM:616007)
..Chondrodysplasia Calcificans Metaphysealis (C565855)
..Chondrodysplasia Punctata (D002806) 13
..CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE (OMIM:614078)
..CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA (OMIM:300863)
..Chondrodysplasia, blomstrand type (C537914)
..Chondrodysplasia, Grebe type (C537915)
..Chondrodysplasia, Lethal, with Long Bone Angulation and Mixed Bone Density (C563330)
..Chondrodysplasia, Megarbane-Dagher-Melki Type (C567644)
..Cleidocranial Dysplasia (D002973) 5
..Cleidorhizomelic syndrome (C536428)
..Cloverleaf skull micromelia thoracic dysplasia (C536429)
..CODAS syndrome (C536434)
..Collagenopathy, type 2 alpha 1 (C535964)
..Coloboma of Alar-nasal cartilages with telecanthus (C535967)
..Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia (C564307)
..Craniodiaphyseal Dysplasia (C562940)
..Craniodiaphyseal Dysplasia, Autosomal Dominant (C567275)
..Czech dysplasia, metatarsal type (C535766)
..Dyggve-Melchior-Clausen syndrome (C535726)
..Dyschondrosteosis and Nephritis (C565080)
..Eiken Skeletal Dysplasia (C564010)
..Ellis-Van Creveld Syndrome (D004613) 6
..Enchondromatosis (D004687)
..EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE (OMIM:615923)
..Epiphyseal Dysplasia of Femoral Head, Myopia, and Deafness (C565585)
..Epiphyseal Dysplasia, Baumann Type (C563664)
..Epiphyseal dysplasia, multiple, 1 (C535501)
..Epiphyseal dysplasia, multiple, 2 (C535502)
..Epiphyseal dysplasia, multiple, 3 (C535503)
..Epiphyseal dysplasia, multiple, 4 (C535504)
..Epiphyseal dysplasia, multiple, 5 (C535505)
..EPIPHYSEAL DYSPLASIA, MULTIPLE, 6 (OMIM:614135)
..Epiphyseal Dysplasia, Multiple, with Miniepiphyses (C563735)
..Epiphyseal Dysplasia, Multiple, with Myopathy (C563420)
..Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness (C565046)
..Epiphyseal Dysplasia, Multiple, with Severe Proximal Femoral Dysplasia (C563736)
..Fairbank disease (C536393)
..Faye-Petersen Ward Carey syndrome (C537076)
..Fibrous Dysplasia of Bone (D005357) 9
..Fraser Jequier Chen syndrome (C535481)
..Frontometaphyseal dysplasia (C538064)
..Frontootopalatodigital Osteodysplasia (C567578)
..Ghosal Hematodiaphyseal Dysplasia (C565551)
..HEM dysplasia (C535858) 1
..Heterotopia, Periventricular Nodular, with Frontometaphyseal Dysplasia (C564725)
..Hip Dysplasia, Beukes Type (C564185)
..Hyperostosis Frontalis Interna (D006957) 1
..Hyperostosis, Cortical, Congenital (D006958) 6
..Hypochondrogenesis (C563007)
..Hypoparathyroidism-retardation-dysmorphism syndrome (C537157)
..IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES (OMIM:617425)
..Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies (C564543)
..Jansen type metaphyseal chondrodysplasia (C537564)
..Jequier Kozlowski skeletal dysplasia (C537569)
..Kashin-Beck Disease (D057767)
..Kniest dysplasia (C537207)
..Kniest-Like Dysplasia with Pursed Lips and Ectopia Lentis (C565452)
..Kozlowski Tsuruta Taki syndrome (C537510)
..Langer mesomelic dysplasia (C537267)
..Langer-Giedion Syndrome (D015826) 2
..Laplane Fontaine Lagardere syndrome (C537869)
..Larsen Syndrome (C580241)
..Larsen syndrome, dominant type (C537873)
..Larsen-Like Syndrome (C563914)
..Leri-Weil syndrome (C537119)
..Leukoencephalopathy With Metaphyseal Chondrodysplasia (C567065)
..Lowry Wood syndrome (C537038)
..Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies (C564621)
..Madelung Deformity (C562398)
..Marshall syndrome (C536025)
..Megaepiphyseal dwarfism (C536140) 1
..Mental Retardation, Skeletal Dysplasia, and Abducens Palsy (C564101)
..Mesomelic Dwarfism of Hypoplastic Tibia and Radius Type (C563589)
..Mesomelic dwarfism Reinhardt Pfeiffer type (C537349)
..Mesomelic Dysplasia, Savarirayan Type (C565349)
..Metaphyseal anadysplasia (C537351)
..Metaphyseal Anadysplasia 1 (C567545)
..Metaphyseal Anadysplasia 2 (C567771)
..Metaphyseal chondrodysplasia Schmid type (C537352)
..Metaphyseal chondrodysplasia Spahr type (C537353)
..Metaphyseal chondrodysplasia with cone-shaped epiphyses, normal hair, and normal hands (C537354)
..Metaphyseal Chondrodysplasia with Retinitis Pigmentosa (C565398)
..Metaphyseal Chondrodysplasia, Kaitila Type (C565400)
..Metaphyseal Chondrodysplasia, Pena Type (C565399)
..Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly (C563586)
..Metaphyseal Dysplasia without Hypotrichosis (C563574)
..Metaphyseal Dysplasia, Anetoderma, and Optic Atrophy (C565395)
..Metaphyseal Dysplasia, Braun-Tinschert Type (C565271)
..Metaphyseal undermodeling, spondylar dysplasia, and overgrowth (C537355)
..Metatropic dwarfism (C537356)
..Metatropic Dwarfism, Type II (C581628)
..Microcephalic osteodysplastic primordial dwarfism, type 1 (C537577)
..Microcephalic Osteodysplastic Primordial Dwarfism, Type II (C565898)
..Microcephaly-Micromelia Syndrome (C565382)
..Micromelic dwarfism Fryns type (C537556)
..Micromelic dysplasia, congenital, with dislocation of radius (C537557)
..Multiple Congenital Anomalies Syndrome with Cloverleaf Skull (C564611)
..Multiple Epiphyseal Dysplasia with Robin Phenotype (C563291)
..Nievergelt syndrome (C536120)
..Nivelon Nivelon Mabille syndrome (C536123)
..Omodysplasia 2 (C567664)
..Omodysplasia type 1 (C537746)
..Opsismodysplasia (C537122)
..Osebold Skeletal Dysplasia Osteolysis Syndrome (C566380)
..Osteoarthritis with Mild Chondrodysplasia (C565740)
..OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE (OMIM:616897)
..Osteochondrodysplasia, Rhizomelic, with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension (C563478)
..Osteochondroma (D015831) 17
..Osteodysplasia, Familial, Anderson Type (C564923)
..Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski (C564922)
..Osteogenesis Imperfecta (D010013) 27
..Osteoglophonic dwarfism (C536050)
..Osteosclerosis (D010026) 36
..Oto-Palato-digital syndrome type 1 (C536065)
..Oto-palato-digital syndrome, type 2 (C538089)
..Otopalatodigital Spectrum Disorder (C567577)
..OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE (OMIM:215150)
..Pelvis-Shoulder Dysplasia (C566811)
..Pierre Robin syndrome with fetal chondrodysplasia (C535776)
..Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (C536329)
..Polydysspondyly (C565150)
..Pubic Bone Dysplasia (C566735)
..Pycnodysostosis (D058631)
..Pyle disease (C536252)
..Roifman syndrome (C535866)
..Schaefer Stein Oshman syndrome (C536627)
..Schimke immunoosseous dysplasia (C536629)
..Schneckenbecken dysplasia (C536637)
..Short Rib-Polydactyly Syndrome (D012779) 3
..Short stature syndrome, Brussels type (C537121)
..Situs inversus totalis with cystic dysplasia of kidneys and pancreas (C536666)
..Sketetal dysplasia coarse facies mental retardation (C536671)
..Slipped Capital Femoral Epiphyses (D060048)
..Smith-McCort Dysplasia (C564589)
..Spinal Dysplasia, Anhalt Type (C563348)
..Spondylo-Megaepiphyseal-Metaphyseal Dysplasia (C567639)
..Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like (C567340)
..Spondylodysplasia And Premature Pubarche (C567552)
..Spondyloenchondrodysplasia (C535782)
..Spondyloepimetaphyseal Dysplasia With Abnormal Dentition (C566644)
..Spondyloepimetaphyseal dysplasia with hypotrichosis (C535783)
..Spondyloepimetaphyseal Dysplasia With Joint Laxity (C562968)
..Spondyloepimetaphyseal dysplasia with multiple dislocations (C535784)
..Spondyloepimetaphyseal dysplasia, Genevieve type (C535785)
..Spondyloepimetaphyseal Dysplasia, Irapa Type (C562958)
..Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related (C563869)
..Spondyloepimetaphyseal Dysplasia, Missouri Type (C566574)
..Spondyloepimetaphyseal Dysplasia, Pakistani Type (C567551)
..Spondyloepimetaphyseal Dysplasia, Shohat Type (C566523)
..Spondyloepimetaphyseal dysplasia, sponastrime type (C535786)
..Spondyloepimetaphyseal Dysplasia, X-Linked (C564714)
..Spondyloepiphyseal Dysplasia Tarda with Characteristic Facies (C564003)
..Spondyloepiphyseal Dysplasia Tarda with Mental Retardation (C564796)
..Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant (C566658)
..Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive (C564797)
..Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type (C563772)
..Spondyloepiphyseal dysplasia tarda, Toledo type (C535787)
..Spondyloepiphyseal Dysplasia with Atlantoaxial Instability (C563472)
..Spondyloepiphyseal Dysplasia With Coronal Craniosynostosis, Cataracts, Cleft Palate, And Mental Retardation (C566515)
..Spondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy (C566660)
..Spondyloepiphyseal dysplasia, congenita (C535788)
..Spondyloepiphyseal Dysplasia, Kimberley Type (C564252)
..SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE (OMIM:184095)
..Spondyloepiphyseal Dysplasia, Myopia, And Sensorineural Deafness (C566659)
..Spondyloepiphyseal dysplasia, Omani type (C535789) 1
..Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech (C567128)
..Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness (C566507)
..Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type (C564794)
..Spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism (C535791)
..Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy (C563825)
..Spondylometaphyseal dysplasia with dentinogenesis imperfecta (C535792)
..Spondylometaphyseal dysplasia, 'corner fracture' type (C535793)
..Spondylometaphyseal dysplasia, Algerian type (C535794)
..Spondylometaphyseal dysplasia, axial (C535795)
..Spondylometaphyseal dysplasia, east-African type (C535796)
..Spondylometaphyseal dysplasia, Kozlowski type (C535797)
..Spondylometaphyseal dysplasia, Sedaghatian type (C535798)
..Spondylometaphyseal Dysplasia, Type A4 (C563803)
..Spondylometaphyseal Dysplasia, X-Linked (C563124)
..Spondyloocular Syndrome, Autosomal Recessive (C565285)
..SPONDYLOPERIPHERAL DYSPLASIA (OMIM:271700)
..Spondyloperipheral dysplasia short ulna (C535799)
..Spondylospinal Thoracic Dysostosis (C566622)
..Strudwick syndrome (C537501)
..Stuve-Wiedemann syndrome (C537502)
..Teebi Naguib Al Awadi syndrome (C536949)
..Ter Haar syndrome (C537274)
..TERMINAL OSSEOUS DYSPLASIA (OMIM:300244)
..Terminal Osseous Dysplasia and Pigmentary Defects (C564554)
..Thoracolaryngopelvic dysplasia (C536517)
..Tracheobronchopathia osteoplastica (C536977)
..Trichoscyphodysplasia (C536557)
..Ulna metaphyseal dysplasia syndrome (C536935)
..Upington disease (C536472)
..Van Buchem disease type 2 (C536527)
..Verloes Bourguignon syndrome (C536538)
..Verloes Van Maldergem Marneffe syndrome (C536540)
..Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia (C565179)
..Wolcott-Rallison syndrome (C536739)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

9263

Name:

Osteogenesis Imperfecta

Definition:

COLLAGEN DISEASES characterized by brittle, osteoporotic, and easily fractured bones. It may also present with blue sclerae, loose joints, and imperfect dentin formation. Most types are autosomal dominant and are associated with mutations in COLLAGEN TYPE I.

Alternative IDs:

DO:DOID:12347|OMIM:166200

ParentIDs:

MESH:D003095|MESH:D010009|MESH:D030342

TreeNumbers:

C05.116.099.708.685 |C16.320.737 |C17.300.200.540

Synonyms:

Slim Mappings:

Connective tissue disease|Genetic disease (inborn)|Musculoskeletal disease

Reference:

MedGen: D010013
MeSH: D010013
OMIM: 166200;
MSeqDR :
Genes: COL1A1;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0004942	Aortic aneurysm
3	HP:0003321	Biconcave flattened vertebrae
4	HP:0000592	Blue sclerae
5	HP:0000978	Bruising susceptibility
6	HP:0000703	Dentinogenesis imperfecta	HP:0040283
7	HP:0002980	Femoral bowing
8	HP:0001507	Growth abnormality NAMDC: Constitutional
9	HP:0000365	Hearing impairment	Adult onset
10	HP:0002659	Increased susceptibility to fractures
11	HP:0001382	Joint hypermobility
12	HP:0001634	Mitral valve prolapse
13	HP:0000938	Osteopenia
14	HP:0000362	Otosclerosis
15	HP:0002757	Recurrent fractures
16	HP:0000963	Thin skin
17	HP:0002645	Wormian bones

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NC_000017.10:g.(?_48252598)_(48277328_?)del	1277	COL1A1	Pathogenic	-1	RCV003119281;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48252598	48277328		-
NC_000017.10:g.(?_48262843)_(48277749_?)dup	1277	COL1A1	Uncertain significance	-1	RCV000631514;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48262843	48277749		-	C0023931 166200 Osteogenesis imperfecta type I;
NC_000017.11:g.(?_50185482)_(50192870_?)del	1277	COL1A1	Pathogenic	-1	RCV001031346;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48262843	48270231	-1	-
NC_000017.10:g.(?_48262863)_(48277328_?)dup	1277	COL1A1	Likely pathogenic	-1	RCV001983713;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48262863	48277328	-1	-
NC_000017.10:g.(?_48262863)_(48278874_?)dup	1277	COL1A1	Uncertain significance	-1	RCV003119282;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48262863	48278874		-
NM_000088.4(COL1A1):c.4387T>C (p.Phe1463Leu)	1277	COL1A1	Benign	577626107	RCV001515183\|RCV001538359;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:C3661900	17	48262871	48262871	48262871	-
NM_000088.4(COL1A1):c.4386del (p.Phe1463fs)	1277	COL1A1	Pathogenic	1114167406	RCV000490685;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48262872	48262872	17:g.48262872_48262872del	ClinGen:CA645293904	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.4376G>C (p.Gly1459Ala)	1277	COL1A1	Uncertain significance	767250343	RCV000804378\|RCV001555680;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN517202	17	48262882	48262882	17:g.48262882C>G	-
NM_000088.4(COL1A1):c.4373T>C (p.Val1458Ala)	1277	COL1A1	Uncertain significance	775026377	RCV001347559;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48262885	48262885	48262885	-
NM_000088.4(COL1A1):c.4371C>T (p.Asp1457=)	1277	COL1A1	Likely benign	112873723	RCV001582172\|RCV002329693\|RCV002579466;	N	MedGen:C3661900\|MedGen:CN230736\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48262887	48262887	48262887	-
NM_000088.4(COL1A1):c.4369G>A (p.Asp1457Asn)	1277	COL1A1	Conflicting interpretations of pathogenicity	761895918	RCV000702472\|RCV001771993;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:C3661900	17	48262889	48262889	NC_000017.10:g.48262889C>T	-	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.4369G>C (p.Asp1457His)	1277	COL1A1	Uncertain significance	-1	RCV002472081;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48262889	48262889	NC_000017.10:g.48262889C>G	-
NM_000088.4(COL1A1):c.4368C>T (p.Phe1456=)	1277	COL1A1	Likely benign	765224053	RCV001454168\|RCV002329520;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN230736	17	48262890	48262890	48262890	-
NM_000088.4(COL1A1):c.4368C>G (p.Phe1456Leu)	1277	COL1A1	Uncertain significance	765224053	RCV001933735;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48262890	48262890	48262890	-
NM_000088.4(COL1A1):c.4358_4362del (p.Glu1453fs)	1277	COL1A1	Pathogenic	72656352	RCV000018848;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48262896	48262900	17:g.48262896_48262900del	ClinGen:CA281085,OMIM:120150.0024	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.4356_4359dup (p.Phe1454fs)	1277	COL1A1	Uncertain significance	-1	RCV003031584;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48262898	48262899	NC_000017.10:g.48262900_48262903dup	-
NM_000088.4(COL1A1):c.4325_4347del (p.Val1442fs)	1277	COL1A1	Pathogenic	1906421838	RCV001057596;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48262911	48262933	17:g.48262911_48262933del	-
NM_000088.4(COL1A1):c.4343G>A (p.Gly1448Asp)	1277	COL1A1	Likely pathogenic	2144529623	RCV001989180;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48262915	48262915	48262915	-
NM_000088.4(COL1A1):c.4340T>G (p.Val1447Gly)	1277	COL1A1	Uncertain significance	972891143	RCV002004227;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48262918	48262918	48262918	-
NM_000088.4(COL1A1):c.4335_4336del (p.Asp1446fs)	1277	COL1A1	Pathogenic	1906423537	RCV001972394;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48262922	48262923	48262921	-
NM_000088.4(COL1A1):c.4334T>C (p.Leu1445Ser)	1277	COL1A1	Uncertain significance	-1	RCV003009656;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48262924	48262924	NC_000017.10:g.48262924A>G	-
NM_000088.4(COL1A1):c.4332dup (p.Asp1446fs)	1277	COL1A1	Pathogenic	1114167405	RCV000490654;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48262925	48262926	NC_000017.10:g.48262930dup	ClinGen:CA645294098	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.4329_4332dup (p.Leu1445fs)	1277	COL1A1	Pathogenic	1114167405	RCV000631468;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48262925	48262926	NC_000017.10:g.48262927_48262930dup	ClinGen:CA658798885	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.4332del (p.Leu1445fs)	1277	COL1A1	Pathogenic	1114167405	RCV002260953;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48262926	48262926	48262925	-
NM_000088.4(COL1A1):c.4328C>T (p.Ala1443Val)	1277	COL1A1	Conflicting interpretations of pathogenicity	1131692326	RCV000496049;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48262930	48262930	NC_000017.10:g.48262930G>A	ClinGen:CA400190313	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.4321_4327dup (p.Ala1443fs)	1277	COL1A1	Pathogenic	1555571529	RCV000525359;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48262930	48262931	17:g.48262930_48262931insCCACATC	ClinGen:CA658656733	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.4325T>C (p.Val1442Ala)	1277	COL1A1	Likely benign	1321766630	RCV001220320;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48262933	48262933	17:g.48262933A>G	-
NM_000088.4(COL1A1):c.4323T>C (p.Asp1441=)	1277	COL1A1	Benign/Likely benign	-1	RCV002592108\|RCV003161941;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN230736	17	48262935	48262935		-
NM_000088.4(COL1A1):c.4323T>A (p.Asp1441Glu)	1277	COL1A1	Uncertain significance	-1	RCV003337971;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48262935	48262935		-
NM_000088.4(COL1A1):c.4321G>C (p.Asp1441His)	1277	COL1A1	Pathogenic	72656351	RCV001055118;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48262937	48262937	17:g.48262937C>G	-
NM_000088.4(COL1A1):c.4321G>A (p.Asp1441Asn)	1277	COL1A1	Conflicting interpretations of pathogenicity	72656351	RCV001212241\|RCV001508814\|RCV003163610;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN517202\|MedGen:CN230736	17	48262937	48262937	17:g.48262937C>T	-
NM_000088.4(COL1A1):c.4321G>T (p.Asp1441Tyr)	1277	COL1A1	Pathogenic	72656351	RCV001225554\|RCV003405411;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|	17	48262937	48262937	17:g.48262937C>A	-
NM_000088.4(COL1A1):c.4320C>T (p.Ile1440=)	1277	COL1A1	Likely benign	770326881	RCV000872094\|RCV001401853\|RCV002332829;	N	MedGen:CN517202\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN230736	17	48262938	48262938	17:g.48262938G>A	-
NM_000088.4(COL1A1):c.4320C>G (p.Ile1440Met)	1277	COL1A1	Uncertain significance	770326881	RCV001225999;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48262938	48262938	17:g.48262938G>C	-
NM_000088.4(COL1A1):c.4319T>C (p.Ile1440Thr)	1277	COL1A1	Uncertain significance	757911214	RCV002048656;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48262939	48262939	48262939	-
NC_000017.10:g.(?_48262945)_(48267306_?)del	1277	COL1A1	Pathogenic	-1	RCV001972539;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48262945	48267306	-1	-
NM_000088.4(COL1A1):c.4302C>T (p.Thr1434=)	1277	COL1A1	Likely benign	1467776318	RCV002151010\|RCV002331814;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN230736	17	48262956	48262956	48262956	-
NM_000088.4(COL1A1):c.4293C>T (p.Thr1431=)	1277	COL1A1	Likely benign	-1	RCV002881811;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48262965	48262965		-
NM_000088.4(COL1A1):c.4285T>C (p.Tyr1429His)	1277	COL1A1	Uncertain significance	-1	RCV002601902;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48262973	48262973	NC_000017.10:g.48262973A>G	-
NM_000088.4(COL1A1):c.4281T>C (p.Ile1427=)	1277	COL1A1	Benign	41316725	RCV000610149\|RCV000710773\|RCV001085794\|RCV002330828;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN230736	17	48262977	48262977	17:g.48262977A>G	ClinGen:CA8644191	CN169374 not specified;
NM_000088.4(COL1A1):c.4258G>A (p.Gly1420Arg)	1277	COL1A1	Uncertain significance	139388334	RCV002022866;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48263000	48263000	48263000	-
NM_000088.4(COL1A1):c.4257C>T (p.Thr1419=)	1277	COL1A1	Benign/Likely benign	144134990	RCV000541457\|RCV000610008\|RCV002330827;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN169374\|MedGen:CN230736	17	48263001	48263001	17:g.48263001G>A	ClinGen:CA8644195	CN169374 not specified;
NM_000088.4(COL1A1):c.4249-7A>C	1277	COL1A1	Likely benign	201450194	RCV002167374;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48263016	48263016	48263016	-
NM_000088.4(COL1A1):c.4249-13C>T	1277	COL1A1	Likely benign	1046359912	RCV002217490;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48263022	48263022	48263022	-
NM_000088.4(COL1A1):c.4249-14C>T	1277	COL1A1	Likely benign	756459768	RCV002142738;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48263023	48263023	48263023	-
NM_000088.4(COL1A1):c.4248+17C>T	1277	COL1A1	Likely benign	-1	RCV002662390;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48263122	48263122	NC_000017.10:g.48263122G>A	-
NM_000088.4(COL1A1):c.4248+6T>C	1277	COL1A1	Uncertain significance	-1	RCV003089935;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48263133	48263133	NC_000017.10:g.48263133A>G	-
NM_000088.4(COL1A1):c.4248+2T>C	1277	COL1A1	Pathogenic	112274185	RCV001056827;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48263137	48263137	17:g.48263137A>G	-
NM_000088.4(COL1A1):c.4248G>A (p.Thr1416=)	1277	COL1A1	Uncertain significance	746565111	RCV000700056;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48263139	48263139	17:g.48263139C>T	-	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.4247C>T (p.Thr1416Met)	1277	COL1A1	Uncertain significance	1906450804	RCV001220663;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48263140	48263140	17:g.48263140G>A	-
NM_000088.4(COL1A1):c.4241G>T (p.Gly1414Val)	1277	COL1A1	Uncertain significance	-1	RCV003019663;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48263146	48263146	NC_000017.10:g.48263146C>A	-
NM_000088.4(COL1A1):c.4239T>A (p.Asp1413Glu)	1277	COL1A1	Uncertain significance	754555549	RCV000490751\|RCV000528863;	N	MONDO:MONDO:0008148,MedGen:C0268363,OMIM:166220, Orphanet:216820, Orphanet:666\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48263148	48263148	17:g.48263148A>T	ClinGen:CA400191234	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.4237G>A (p.Asp1413Asn)	1277	COL1A1	Likely pathogenic	72656349	RCV001220617;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48263150	48263150	17:g.48263150C>T	-
NM_000088.4(COL1A1):c.4236C>T (p.Val1412=)	1277	COL1A1	Likely benign	532172482	RCV001423803\|RCV002329464;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN230736	17	48263151	48263151	48263151	-
NM_000088.4(COL1A1):c.4228G>A (p.Val1410Ile)	1277	COL1A1	Uncertain significance	769619568	RCV001977069;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48263159	48263159	48263159	-
NM_000088.4(COL1A1):c.4227C>T (p.Ser1409=)	1277	COL1A1	Likely benign	552087944	RCV002112852;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48263160	48263160	48263160	-
NM_000088.4(COL1A1):c.4226G>T (p.Ser1409Ile)	1277	COL1A1	Uncertain significance	1906453973	RCV001300551;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48263161	48263161	48263161	-
NM_000088.4(COL1A1):c.4224C>T (p.Tyr1408=)	1277	COL1A1	Likely benign	369138260	RCV001483391\|RCV002329581;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN230736	17	48263163	48263163	48263163	-
NM_000088.4(COL1A1):c.4214G>A (p.Arg1405His)	1277	COL1A1	Uncertain significance	770826227	RCV001246832;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48263173	48263173	17:g.48263173C>T	-
NM_000088.4(COL1A1):c.4200C>T (p.Ala1400=)	1277	COL1A1	Likely benign	764510425	RCV002158458;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48263187	48263187	48263187	-
NM_000088.4(COL1A1):c.4197C>T (p.Arg1399=)	1277	COL1A1	Conflicting interpretations of pathogenicity	757759451	RCV000960716\|RCV001127263\|RCV001127264\|RCV001127265\|RCV002327192;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MONDO:MONDO:0007525,MedGen:C4551623,OMIM:130060, Orphanet:1899, Orphanet:99875, Orphanet:99876\|MONDO:MONDO:0007244,MedGen:C0020497,OMIM:114000, Orphanet:1310\|MONDO:MONDO:0019019,Me	17	48263190	48263190	17:g.48263190G>A	-
NM_000088.4(COL1A1):c.4196G>A (p.Arg1399His)	1277	COL1A1	Conflicting interpretations of pathogenicity	146035171	RCV000521165\|RCV000765368\|RCV000792484\|RCV002329239;	N	MedGen:C3661900\|7 conditions\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN230736	17	48263191	48263191	17:g.48263191C>T	ClinGen:CA8644235	CN169374 not specified;
NM_000088.4(COL1A1):c.4195C>T (p.Arg1399Cys)	1277	COL1A1	Conflicting interpretations of pathogenicity	762848021	RCV001904765\|RCV002292673;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:C3661900	17	48263192	48263192	48263192	-
NM_000088.4(COL1A1):c.4193T>G (p.Ile1398Ser)	1277	COL1A1	Likely pathogenic	-1	RCV003050484;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48263194	48263194	NC_000017.10:g.48263194A>C	-
NM_000088.4(COL1A1):c.4192A>T (p.Ile1398Phe)	1277	COL1A1	Uncertain significance	754481870	RCV001922724;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48263195	48263195	48263195	-
NM_000088.4(COL1A1):c.4188C>T (p.Ile1396=)	1277	COL1A1	Likely benign	780908692	RCV001477269\|RCV002332850;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN230736	17	48263199	48263199	17:g.48263199G>A	-
NM_000088.4(COL1A1):c.4183G>A (p.Glu1395Lys)	1277	COL1A1	Likely benign	373474549	RCV001945487;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48263204	48263204	48263204	-
NM_000088.4(COL1A1):c.4183G>T (p.Glu1395Ter)	1277	COL1A1	Likely pathogenic	-1	RCV002472337;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48263204	48263204	NC_000017.10:g.48263204C>A	-
NM_000088.4(COL1A1):c.4181A>G (p.Asn1394Ser)	1277	COL1A1	Benign/Likely benign	147266928	RCV000659364\|RCV001085772\|RCV001123188\|RCV001123187\|RCV001127266\|RCV001703567\|RCV002278663\|RCV002328934;	N	MONDO:MONDO:0003900,MedGen:C0009782\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MONDO:MONDO:0007244,MedGen:C0020497,OMIM:114000, Orphanet:1310\|MO	17	48263206	48263206	17:g.48263206T>C	ClinGen:CA8644242	C0009782 Connective tissue disorder;
NM_000088.4(COL1A1):c.4178C>T (p.Ser1393Phe)	1277	COL1A1	Uncertain significance	774210351	RCV000547370;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48263209	48263209	17:g.48263209G>A	ClinGen:CA8644244	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.4176C>T (p.Gly1392=)	1277	COL1A1	Likely benign	745816283	RCV000936834\|RCV001423851;	N	MedGen:CN517202\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48263211	48263211	17:g.48263211G>A	-
NM_000088.4(COL1A1):c.4174G>A (p.Gly1392Ser)	1277	COL1A1	Uncertain significance	377379528	RCV002020282;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48263213	48263213	48263213	-
NM_000088.4(COL1A1):c.4168C>T (p.Leu1390Phe)	1277	COL1A1	Conflicting interpretations of pathogenicity	768808806	RCV000819846\|RCV002332698;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN230736	17	48263219	48263219	17:g.48263219G>A	-
NM_000088.4(COL1A1):c.4166T>C (p.Leu1389Pro)	1277	COL1A1	Likely pathogenic	2144531821	RCV001806446;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48263221	48263221	48263221	-
NM_000088.4(COL1A1):c.4163T>C (p.Leu1388Pro)	1277	COL1A1	Pathogenic	72656348	RCV001044363;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48263224	48263224	17:g.48263224A>G	-
NM_000088.4(COL1A1):c.4159G>A (p.Ala1387Thr)	1277	COL1A1	Conflicting interpretations of pathogenicity	1598284183	RCV002251006\|RCV003094078;	N	MONDO:MONDO:0009804,MedGen:C0268362,OMIM:259420, Orphanet:216812, Orphanet:666\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48263228	48263228	48263228	-
NM_000088.4(COL1A1):c.4155G>A (p.Lys1385=)	1277	COL1A1	Likely benign	-1	RCV003108481;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48263232	48263232		-
NM_000088.4(COL1A1):c.4154A>G (p.Lys1385Arg)	1277	COL1A1	Likely benign	-1	RCV002633410;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48263233	48263233	NC_000017.10:g.48263233T>C	-
NM_000088.4(COL1A1):c.4148A>G (p.Asn1383Ser)	1277	COL1A1	Uncertain significance	1555571631	RCV000631470;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48263239	48263239	NC_000017.10:g.48263239T>C	ClinGen:CA400191894	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.4120G>A (p.Val1374Met)	1277	COL1A1	Uncertain significance	954167907	RCV001908815;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48263267	48263267	48263267	-
NM_000088.4(COL1A1):c.4113G>A (p.Lys1371=)	1277	COL1A1	Benign/Likely benign	41316723	RCV000423865\|RCV000710772\|RCV001084116\|RCV002278677\|RCV002323613;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000, Orphanet:98249\|MedGen:CN230736	17	48263274	48263274	17:g.48263274C>T	ClinGen:CA8644255	CN169374 not specified;
NM_000088.4(COL1A1):c.4103A>G (p.Tyr1368Cys)	1277	COL1A1	Likely pathogenic	-1	RCV002899050;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48263284	48263284	NC_000017.10:g.48263284T>C	-
NM_000088.4(COL1A1):c.4100C>A (p.Thr1367Asn)	1277	COL1A1	Conflicting interpretations of pathogenicity	2144532190	RCV001761356\|RCV001868544;	N	MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48263287	48263287	48263287	-
NM_000088.4(COL1A1):c.4090C>T (p.Gln1364Ter)	1277	COL1A1	Pathogenic	1555571647	RCV000558998;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48263297	48263297	17:g.48263297G>A	ClinGen:CA400192334	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.4081G>A (p.Glu1361Lys)	1277	COL1A1	Uncertain significance	141011435	RCV000585575\|RCV001260275\|RCV001294624;	N	MedGen:C3661900\|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48263306	48263306	17:g.48263306C>T	ClinGen:CA8644257	CN517202 not provided;
NM_000088.4(COL1A1):c.4081G>T (p.Glu1361Ter)	1277	COL1A1	Pathogenic	141011435	RCV000818221;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48263306	48263306	17:g.48263306C>A	-
NM_000088.4(COL1A1):c.4081G>C (p.Glu1361Gln)	1277	COL1A1	Uncertain significance	141011435	RCV001365637\|RCV001762634;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:C3661900	17	48263306	48263306	48263306	-
NM_000088.4(COL1A1):c.4080C>T (p.Thr1360=)	1277	COL1A1	Likely benign	753536372	RCV000605845\|RCV001855218;	N	MedGen:CN169374\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48263307	48263307	17:g.48263307G>A	ClinGen:CA8644259	CN169374 not specified;
NM_000088.4(COL1A1):c.4067G>A (p.Arg1356His)	1277	COL1A1	Uncertain significance	149820303	RCV001220548\|RCV001773496\|RCV001824937;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN517202\|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666; MONDO:MONDO:0007244,MedGen:C0020497,OMIM:114000, Orphanet:1310; MONDO:MONDO:0009159,Me	17	48263320	48263320	17:g.48263320C>T	-
NM_000088.4(COL1A1):c.4066C>A (p.Arg1356Ser)	1277	COL1A1	Uncertain significance	1341595487	RCV000817261;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48263321	48263321	17:g.48263321G>T	-
NM_000088.4(COL1A1):c.4066C>T (p.Arg1356Cys)	1277	COL1A1	Uncertain significance	1341595487	RCV001982255;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48263321	48263321	48263321	-
NM_000088.4(COL1A1):c.4066delinsGTGTCCTGGAAG (p.Arg1356fs)	1277	COL1A1	Pathogenic	-1	RCV003030557;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48263321	48263321	NC_000017.10:g.48263321delinsCTTCCAGGACAC	-
NM_000088.4(COL1A1):c.4063del (p.Leu1355fs)	1277	COL1A1	Pathogenic	-1	RCV002851633;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48263324	48263324	NC_000017.10:g.48263325del	-
NM_000088.4(COL1A1):c.4061T>G (p.Phe1354Cys)	1277	COL1A1	Uncertain significance	-1	RCV003077329;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48263326	48263326	NC_000017.10:g.48263326A>C	-
NM_000088.4(COL1A1):c.4058C>A (p.Thr1353Asn)	1277	COL1A1	Conflicting interpretations of pathogenicity	982770651	RCV000757101\|RCV002536564;	N	MedGen:CN517202\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48263329	48263329	NC_000017.10:g.48263329G>T	-
NM_000088.4(COL1A1):c.4054C>G (p.Leu1352Val)	1277	COL1A1	Uncertain significance	1906478020	RCV001348983\|RCV001507020;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN517202	17	48263333	48263333	48263333	-
NM_000088.4(COL1A1):c.4051C>T (p.Gln1351Ter)	1277	COL1A1	Pathogenic	-1	RCV003064465\|RCV003111617;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:C3661900	17	48263336	48263336	NC_000017.10:g.48263336G>A	-
NM_000088.4(COL1A1):c.4041T>C (p.Asp1347=)	1277	COL1A1	Likely benign	745797859	RCV002111769\|RCV002325621;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN230736	17	48263346	48263346	48263346	-
NM_000088.4(COL1A1):c.4040A>G (p.Asp1347Gly)	1277	COL1A1	Uncertain significance	772033648	RCV000803370;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48263347	48263347	17:g.48263347T>C	-
NM_000088.4(COL1A1):c.4039G>A (p.Asp1347Asn)	1277	COL1A1	Benign	-1	RCV002740933;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48263348	48263348	NC_000017.10:g.48263348C>T	-
NM_000088.4(COL1A1):c.4038C>T (p.Ala1346=)	1277	COL1A1	Likely benign	768810493	RCV001434128\|RCV002358972;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN230736	17	48263349	48263349	48263349	-
NM_000088.4(COL1A1):c.4030G>A (p.Asp1344Asn)	1277	COL1A1	Conflicting interpretations of pathogenicity	371547661	RCV000983956\|RCV001428697\|RCV002354889;	N	MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN230736	17	48263357	48263357	17:g.48263357C>T	-
NM_000088.4(COL1A1):c.4030G>C (p.Asp1344His)	1277	COL1A1	Uncertain significance	371547661	RCV002020755;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48263357	48263357	48263357	-
NM_000088.4(COL1A1):c.4020C>G (p.Gly1340=)	1277	COL1A1	Likely benign	-1	RCV002908387;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48263367	48263367		-
NM_000088.4(COL1A1):c.4018G>A (p.Gly1340Ser)	1277	COL1A1	Conflicting interpretations of pathogenicity	147936946	RCV000224096\|RCV000602706\|RCV000659363\|RCV001089449\|RCV002277585\|RCV002354626;	N	MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0003900,MedGen:C0009782\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000, Orphanet:98249\|MedGen:CN230736	17	48263369	48263369	17:g.48263369C>T	ClinGen:CA8644271	C0009782 Connective tissue disorder;
NM_000088.4(COL1A1):c.4017C>T (p.Gly1339=)	1277	COL1A1	Likely benign	201256042	RCV000418055\|RCV002063548;	N	MedGen:CN169374\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48263370	48263370	17:g.48263370G>A	ClinGen:CA8644273	CN169374 not specified;
NM_000088.4(COL1A1):c.4017C>A (p.Gly1339=)	1277	COL1A1	Likely benign	201256042	RCV001434070\|RCV002358762;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN230736	17	48263370	48263370	NC_000017.10:g.48263370G>T	ClinGen:CA8644272	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.4014del (p.Glu1337_Tyr1338insTer)	1277	COL1A1	Pathogenic	1906488067	RCV001225371;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48263373	48263373	17:g.48263373_48263373del	-
NM_000088.4(COL1A1):c.4011G>A (p.Glu1337=)	1277	COL1A1	Likely benign	-1	RCV002357855\|RCV003094483;	N	MedGen:CN230736\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48263376	48263376		-
NM_000088.4(COL1A1):c.4009G>A (p.Glu1337Lys)	1277	COL1A1	Benign	760040029	RCV002024140;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48263378	48263378	48263378	-
NM_000088.4(COL1A1):c.4008C>T (p.Phe1336=)	1277	COL1A1	Likely benign	763676384	RCV001449434;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48263379	48263379	48263379	-
NM_000088.4(COL1A1):c.4006-1G>A	1277	COL1A1	Pathogenic	-1	RCV002287870\|RCV003097736;	N	MONDO:MONDO:0030854,MedGen:C5436842,OMIM:619115\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48263382	48263382	48263382	-
NM_000088.4(COL1A1):c.4006-2A>G	1277	COL1A1	Likely pathogenic	-1	RCV002866780;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48263383	48263383	NC_000017.10:g.48263383T>C	-
NM_000088.4(COL1A1):c.4006-9C>T	1277	COL1A1	Conflicting interpretations of pathogenicity	193922156	RCV000029578\|RCV002054484;	N	MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48263390	48263390	17:g.48263390G>A	ClinGen:CA260316	C0029434 Osteogenesis imperfecta;
NM_000088.4(COL1A1):c.4006-12C>G	1277	COL1A1	Likely benign	778644341	RCV002184002;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48263393	48263393	48263393	-
NM_000088.4(COL1A1):c.4006-20del	1277	COL1A1	Likely benign	1194886388	RCV002169590;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48263401	48263401	48263400	-
NM_000088.4(COL1A1):c.4006-33G>A	1277	COL1A1	Benign/Likely benign	201920224	RCV001593596\|RCV002070436\|RCV002246444\|RCV002501954;	N	MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN169374\|8 conditions	17	48263414	48263414	48263414	-
NC_000017.10:g.(?_48263658)_(48270428_?)del	1277	COL1A1	Pathogenic	-1	RCV001960681;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48263658	48270428	-1	-
NM_000088.4(COL1A1):c.4005+9G>A	1277	COL1A1	Likely benign	-1	RCV002761149;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48263669	48263669	NC_000017.10:g.48263669C>T	-
NM_000088.4(COL1A1):c.4005+5G>A	1277	COL1A1	Uncertain significance	778417218	RCV000513599\|RCV000631475\|RCV001001319\|RCV002279299\|RCV002376949\|RCV002496974;	N	MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN169374\|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000, Orphanet:98249\|MedGen:CN230736\|8 conditions	17	48263673	48263673	17:g.48263673C>T	ClinGen:CA8644297	CN517202 not provided;
NM_000088.4(COL1A1):c.4005+4C>T	1277	COL1A1	Conflicting interpretations of pathogenicity	528349466	RCV002569111\|RCV001584725;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:C3661900	17	48263674	48263674	48263674	-
NM_000088.4(COL1A1):c.4005+1G>C	1277	COL1A1	Pathogenic	-1	RCV003064466;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48263677	48263677	NC_000017.10:g.48263677C>G	-
NM_000088.4(COL1A1):c.3996T>C (p.Asp1332=)	1277	COL1A1	Likely benign	1555571730	RCV000529577;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48263687	48263687	NC_000017.10:g.48263687A>G	ClinGen:CA500843615	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.3994G>A (p.Asp1332Asn)	1277	COL1A1	Conflicting interpretations of pathogenicity	754984293	RCV000702037\|RCV002060881\|RCV002369933;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|8 conditions\|MedGen:CN230736	17	48263689	48263689	NC_000017.10:g.48263689C>T	-	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.3994del (p.Asp1332fs)	1277	COL1A1	Likely pathogenic	-1	RCV002472336;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48263689	48263689	NC_000017.10:g.48263689del	-
NM_000088.4(COL1A1):c.3993C>T (p.Thr1331=)	1277	COL1A1	Benign/Likely benign	148659814	RCV000843852\|RCV001514912\|RCV002372383;	N	MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN230736	17	48263690	48263690	17:g.48263690G>A	-
NM_000088.4(COL1A1):c.3985A>T (p.Ser1329Cys)	1277	COL1A1	Uncertain significance	778077946	RCV001312787;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48263698	48263698	48263698	-
NM_000088.4(COL1A1):c.3982G>A (p.Glu1328Lys)	1277	COL1A1	Likely benign	142128554	RCV001889517;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48263701	48263701	48263701	-
NM_000088.4(COL1A1):c.3981C>T (p.Gly1327=)	1277	COL1A1	Conflicting interpretations of pathogenicity	-1	RCV002614954\|RCV003161901;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN230736	17	48263702	48263702		-
NM_000088.4(COL1A1):c.3979G>A (p.Gly1327Ser)	1277	COL1A1	Conflicting interpretations of pathogenicity	147104425	RCV000426862\|RCV002056678;	N	MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48263704	48263704	17:g.48263704C>T	ClinGen:CA8644306	CN169374 not specified;
NM_000088.4(COL1A1):c.3978C>T (p.Phe1326=)	1277	COL1A1	Benign/Likely benign	200145743	RCV000831174\|RCV001520549\|RCV003307573;	N	MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN230736	17	48263705	48263705	17:g.48263705G>A	-
NM_000088.4(COL1A1):c.3975G>T (p.Trp1325Cys)	1277	COL1A1	Likely pathogenic	2144534276	RCV001373665;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48263708	48263708	48263708	-
NM_000088.4(COL1A1):c.3969T>C (p.His1323=)	1277	COL1A1	Likely benign	-1	RCV002321122\|RCV003102490;	N	MedGen:CN230736\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48263714	48263714		-
NM_000088.4(COL1A1):c.3967C>T (p.His1323Tyr)	1277	COL1A1	Likely pathogenic	-1	RCV003384290;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48263716	48263716		-
NM_000088.4(COL1A1):c.3965G>A (p.Arg1322Lys)	1277	COL1A1	Benign/Likely benign	138544681	RCV000557955\|RCV001568011\|RCV002279335\|RCV002358440;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:C3661900\|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000, Orphanet:98249\|MedGen:CN230736	17	48263718	48263718	NC_000017.10:g.48263718C>T	ClinGen:CA8644311	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.3965G>C (p.Arg1322Thr)	1277	COL1A1	Uncertain significance	138544681	RCV001927321;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48263718	48263718	48263718	-
NM_000088.4(COL1A1):c.3963G>C (p.Lys1321Asn)	1277	COL1A1	Uncertain significance	764729498	RCV000487667\|RCV001060559;	N	MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48263720	48263720	17:g.48263720C>G	ClinGen:CA8644312	CN517202 not provided;
NM_000088.4(COL1A1):c.3952_3954del (p.Pro1318del)	1277	COL1A1	Uncertain significance	1451296434	RCV001321336\|RCV003166861;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN230736	17	48263729	48263731	48263728	-
NM_000088.4(COL1A1):c.3945C>T (p.Ser1315=)	1277	COL1A1	Likely benign	766059440	RCV000659362\|RCV000820974;	N	MONDO:MONDO:0003900,MedGen:C0009782\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48263738	48263738	17:g.48263738G>A	-	C0009782 Connective tissue disorder;
NM_000088.4(COL1A1):c.3944G>T (p.Ser1315Ile)	1277	COL1A1	Conflicting interpretations of pathogenicity	1391247648	RCV000728334\|RCV001862142;	N	MedGen:CN517202\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48263739	48263739	NC_000017.10:g.48263739C>A	-
NM_000088.4(COL1A1):c.3936G>A (p.Trp1312Ter)	1277	COL1A1	Pathogenic	72656343	RCV000552645\|RCV001545430;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN517202	17	48263747	48263747	17:g.48263747C>T	ClinGen:CA400193384	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.3935G>A (p.Trp1312Ter)	1277	COL1A1	Likely pathogenic	886039880	RCV000256401;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48263748	48263748	17:g.48263748C>T	ClinGen:CA10588936	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.3917G>C (p.Ser1306Thr)	1277	COL1A1	Uncertain significance	754753032	RCV001872081;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48263766	48263766	48263766	-
NM_000088.4(COL1A1):c.3914C>T (p.Pro1305Leu)	1277	COL1A1	Likely benign	201746814	RCV001959728;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48263769	48263769	48263769	-
NM_000088.4(COL1A1):c.3910C>T (p.Gln1304Ter)	1277	COL1A1	Pathogenic	2144534686	RCV001387168;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48263773	48263773	48263773	-
NM_000088.4(COL1A1):c.3906C>T (p.Pro1302=)	1277	COL1A1	Conflicting interpretations of pathogenicity	188887858	RCV000595947\|RCV002532391;	N	MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48263777	48263777	17:g.48263777G>A	ClinGen:CA291542850	CN169374 not specified;
NM_000088.4(COL1A1):c.3903C>A (p.Tyr1301Ter)	1277	COL1A1	Pathogenic	1239012334	RCV002000039;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48263780	48263780	48263780	-
NM_000088.4(COL1A1):c.3900G>A (p.Val1300=)	1277	COL1A1	Likely benign	1337482864	RCV001496319;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48263783	48263783	48263783	-
NM_000088.4(COL1A1):c.3898G>A (p.Val1300Met)	1277	COL1A1	Uncertain significance	-1	RCV002923001;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48263785	48263785	NC_000017.10:g.48263785C>T	-
NM_000088.4(COL1A1):c.3895T>A (p.Cys1299Ser)	1277	COL1A1	Uncertain significance	1567752383	RCV000693453;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48263788	48263788	17:g.48263788A>T	-	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.3893C>A (p.Thr1298Asn)	1277	COL1A1	Pathogenic	1555571755	RCV000533081;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48263790	48263790	NC_000017.10:g.48263790G>T	ClinGen:CA400193618	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.3887G>T (p.Gly1296Val)	1277	COL1A1	Uncertain significance	1906529531	RCV001299419;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48263796	48263796	48263796	-
NM_000088.4(COL1A1):c.3883A>T (p.Thr1295Ser)	1277	COL1A1	Uncertain significance	-1	RCV003014769;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48263800	48263800	NC_000017.10:g.48263800T>A	-
NM_000088.4(COL1A1):c.3871_3881del (p.Cys1291fs)	1277	COL1A1	Pathogenic	-1	RCV003031544;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48263802	48263812	NC_000017.10:g.48263802_48263812del	-
NM_000088.4(COL1A1):c.3877dup (p.Met1293fs)	1277	COL1A1	Pathogenic	2144534897	RCV001910530;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48263805	48263806	48263805	-
NM_000088.4(COL1A1):c.3878T>C (p.Met1293Thr)	1277	COL1A1	Uncertain significance	-1	RCV002690122;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48263805	48263805	NC_000017.10:g.48263805A>G	-
NM_000088.4(COL1A1):c.3876C>T (p.Asn1292=)	1277	COL1A1	Benign/Likely benign	143049736	RCV001558868\|RCV002072113\|RCV002368578;	N	MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN230736	17	48263807	48263807	48263807	-
NM_000088.4(COL1A1):c.3865G>C (p.Val1289Leu)	1277	COL1A1	Conflicting interpretations of pathogenicity	780472683	RCV000497837\|RCV002527161;	N	MedGen:CN517202\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48263818	48263818	17:g.48263818C>G	ClinGen:CA8644327	CN169374 not specified;
NM_000088.4(COL1A1):c.3855T>A (p.Asp1285Glu)	1277	COL1A1	Pathogenic	1598285068	RCV001946768;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48263828	48263828	48263828	-
NM_000088.4(COL1A1):c.3849C>A (p.Asn1283Lys)	1277	COL1A1	Conflicting interpretations of pathogenicity	199911681	RCV000532278\|RCV000839516\|RCV003159740;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:C3661900\|MedGen:CN230736	17	48263834	48263834	NC_000017.10:g.48263834G>T	ClinGen:CA8644328	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.3846C>T (p.Cys1282=)	1277	COL1A1	Likely benign	772750234	RCV000819407\|RCV001559377\|RCV003166386;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN517202\|MedGen:CN230736	17	48263837	48263837	17:g.48263837G>A	-
NM_000088.4(COL1A1):c.3842G>T (p.Gly1281Val)	1277	COL1A1	Conflicting interpretations of pathogenicity	918420911	RCV000815255\|RCV001289261\|RCV002469297;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN517202\|MedGen:CN169374	17	48263841	48263841	17:g.48263841C>A	-
NM_000088.4(COL1A1):c.3832C>T (p.Pro1278Ser)	1277	COL1A1	Uncertain significance	-1	RCV003121930;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48263851	48263851	NC_000017.10:g.48263851G>A	-
NM_000088.4(COL1A1):c.3825G>A (p.Trp1275Ter)	1277	COL1A1	Pathogenic	1555571766	RCV000538278\|RCV002279334;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666	17	48263858	48263858	17:g.48263858C>T	ClinGen:CA400193987	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.3824G>A (p.Trp1275Ter)	1277	COL1A1	Pathogenic	1906536457	RCV001237624;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48263859	48263859	17:g.48263859C>T	-
NM_000088.4(COL1A1):c.3820_3821dup (p.Trp1275fs)	1277	COL1A1	Pathogenic	1598285120	RCV000797587;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48263861	48263862	17:g.48263861_48263862insTA	-
NM_000088.4(COL1A1):c.3819_3822delinsTTGATTGTGGTCCACAGGGT (p.Glu1273_Tyr1274delinsAspTer)	1277	COL1A1	Pathogenic	-1	RCV002472089;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48263861	48263864	NC_000017.10:g.48263861_48263864delinsACCCTGTGGACCACAATCAA	-
NM_000088.4(COL1A1):c.3821A>C (p.Tyr1274Ser)	1277	COL1A1	Likely pathogenic	1906537608	RCV001056673;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48263862	48263862	17:g.48263862T>G	-
NM_000088.3(COL1A1):c.3815_3819delGAGAG	1277	COL1A1	Pathogenic	1598285125	RCV000810522;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48263864	48263868	17:g.48263864_48263868del	-
NM_000088.4(COL1A1):c.3817G>T (p.Glu1273Ter)	1277	COL1A1	Pathogenic	1203106659	RCV001206187\|RCV001330772;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MONDO:MONDO:0008148,MedGen:C0268363,OMIM:166220, Orphanet:216820, Orphanet:666	17	48263866	48263866	17:g.48263866C>A	-
NM_000088.4(COL1A1):c.3815G>T (p.Gly1272Val)	1277	COL1A1	Pathogenic/Likely pathogenic	1114167402	RCV000490761\|RCV000490692\|RCV002272256;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MONDO:MONDO:0008148,MedGen:C0268363,OMIM:166220, Orphanet:216820, Orphanet:666\|MedGen:C3661900	17	48263868	48263868	NC_000017.10:g.48263868C>A	ClinGen:CA400194038	C0023931 166200 Osteogenesis imperfecta type I;
NC_000017.11:g.50186508del	1277	COL1A1	Pathogenic	2144535299	RCV001953875;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48263868	48263868		-
NM_000088.4(COL1A1):c.3815-7_3815-6insT	1277	COL1A1	Likely benign	1598285133	RCV000978602;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48263874	48263875	17:g.48263874_48263875insA	-
NM_000088.4(COL1A1):c.3815-8T>A	1277	COL1A1	Likely benign	1598285150	RCV000978603;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48263876	48263876	17:g.48263876A>T	-
NM_000088.4(COL1A1):c.3815-18T>C	1277	COL1A1	Benign	373624129	RCV002193060;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48263886	48263886	48263886	-
NM_000088.4(COL1A1):c.3815-35T>C	1277	COL1A1	Benign	2277632	RCV000834135\|RCV001593049\|RCV001593050\|RCV001593051\|RCV001593048\|RCV001593047;	N	MedGen:C3661900\|MONDO:MONDO:0008147,MedGen:C0268358,OMIM:166210, Orphanet:216804\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MONDO:MONDO:0007525,MedGen:C4551623,OMIM:130060, Orphanet:1899, Orphanet:99875, Orphanet:99876\|MOND	17	48263903	48263903	17:g.48263903A>G	-
NM_000088.4(COL1A1):c.3814+19C>T	1277	COL1A1	Likely benign	780452624	RCV002142684;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48263982	48263982	48263982	-
NM_000088.4(COL1A1):c.3814+18C>T	1277	COL1A1	Likely benign	-1	RCV002589698;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48263983	48263983	NC_000017.10:g.48263983G>A	-
NM_000088.4(COL1A1):c.3814+11G>A	1277	COL1A1	Likely benign	769202328	RCV002097501;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48263990	48263990	48263990	-
NM_000088.4(COL1A1):c.3814+2T>C	1277	COL1A1	Pathogenic	112830882	RCV001931600;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48263999	48263999	48263999	-
NM_000088.4(COL1A1):c.3814+1G>C	1277	COL1A1	Pathogenic	2144535840	RCV001958947;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48264000	48264000	48264000	-
NM_000088.4(COL1A1):c.3813T>A (p.Ser1271Arg)	1277	COL1A1	Uncertain significance	1341583755	RCV001954896\|RCV003407961;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|	17	48264002	48264002	48264002	-
NM_000088.4(COL1A1):c.3812G>T (p.Ser1271Ile)	1277	COL1A1	Uncertain significance	-1	RCV003037896;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48264003	48264003	NC_000017.10:g.48264003C>A	-
NM_000088.4(COL1A1):c.3809A>C (p.Lys1270Thr)	1277	COL1A1	Benign	-1	RCV002900265;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48264006	48264006	NC_000017.10:g.48264006T>G	-
NM_000088.4(COL1A1):c.3806G>A (p.Trp1269Ter)	1277	COL1A1	Pathogenic/Likely pathogenic	72656341	RCV001596868\|RCV001866249;	N	MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48264009	48264009	48264009	-
NM_000088.4(COL1A1):c.3802G>A (p.Asp1268Asn)	1277	COL1A1	Uncertain significance	1598285285	RCV000793951;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48264013	48264013	17:g.48264013C>T	-
NM_000088.4(COL1A1):c.3798C>T (p.His1266=)	1277	COL1A1	Likely benign	1567752621	RCV001765947\|RCV002074023\|RCV002361042;	N	MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN230736	17	48264017	48264017	48264017	-
NM_000088.4(COL1A1):c.3790A>G (p.Met1264Val)	1277	COL1A1	Pathogenic	72656340	RCV000490719;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48264025	48264025	NC_000017.10:g.48264025T>C	ClinGen:CA291542868	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.3788del (p.Lys1263fs)	1277	COL1A1	Pathogenic	1114167401	RCV000490673;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48264027	48264027	NC_000017.10:g.48264028del	ClinGen:CA645294099	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.3779G>A (p.Arg1260His)	1277	COL1A1	Conflicting interpretations of pathogenicity	774001209	RCV001921352\|RCV003235624\|RCV003382730\|RCV003416614;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:C3661900\|MedGen:CN230736\|	17	48264036	48264036	48264036	-
NM_000088.4(COL1A1):c.3768_3769dup (p.Arg1257fs)	1277	COL1A1	Pathogenic	1906559620	RCV001248518;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48264045	48264046	17:g.48264045_48264046insGG	-
NM_000088.4(COL1A1):c.3769C>T (p.Arg1257Cys)	1277	COL1A1	Conflicting interpretations of pathogenicity	368295399	RCV001907566\|RCV002361107;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN230736	17	48264046	48264046	48264046	-
NM_000088.4(COL1A1):c.3766G>A (p.Ala1256Thr)	1277	COL1A1	Conflicting interpretations of pathogenicity	148216434	RCV000490355\|RCV000877791\|RCV001127361\|RCV001126949\|RCV001127360\|RCV002277572\|RCV002298529\|RCV002347820\|RCV003324521\|RCV003319187;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:C3661900\|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MONDO:MONDO:0007244,MedGen:C0020497,OMIM:114000, Orphanet:1310\|MONDO:MONDO:0007525,Me	17	48264049	48264049	NC_000017.10:g.48264049C>T	ClinGen:CA8644359	CN169374 not specified;
NM_000088.4(COL1A1):c.3766G>T (p.Ala1256Ser)	1277	COL1A1	Uncertain significance	-1	RCV002957343;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48264049	48264049	NC_000017.10:g.48264049C>A	-
NM_000088.4(COL1A1):c.3758A>G (p.Lys1253Arg)	1277	COL1A1	Conflicting interpretations of pathogenicity	-1	RCV002363825\|RCV003102434;	N	MedGen:CN230736\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48264057	48264057	48264057	-
NM_000088.4(COL1A1):c.3755G>T (p.Arg1252Leu)	1277	COL1A1	Uncertain significance	-1	RCV003090281;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48264060	48264060	NC_000017.10:g.48264060C>A	-
NM_000088.4(COL1A1):c.3754C>A (p.Arg1252Ser)	1277	COL1A1	Uncertain significance	781614679	RCV000631494;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48264061	48264061	NC_000017.10:g.48264061G>T	ClinGen:CA400196435	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.3754C>T (p.Arg1252Cys)	1277	COL1A1	Conflicting interpretations of pathogenicity	781614679	RCV001340843\|RCV002222701;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN517202	17	48264061	48264061	48264061	-
NM_000088.4(COL1A1):c.3748_3752dup (p.Ser1251fs)	1277	COL1A1	Pathogenic	1114167400	RCV000490738;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48264062	48264063	NC_000017.10:g.48264065_48264069dup	ClinGen:CA645294100	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.3749del (p.Gly1250fs)	1277	COL1A1	Pathogenic	1906565901	RCV001222058;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48264066	48264066	17:g.48264066_48264066del	-
NM_000088.4(COL1A1):c.3733A>T (p.Ile1245Phe)	1277	COL1A1	Conflicting interpretations of pathogenicity	199514372	RCV000319514\|RCV001127366\|RCV001127365\|RCV001296479\|RCV001127367\|RCV002348009;	N	MedGen:C3661900\|MONDO:MONDO:0007525,MedGen:C4551623,OMIM:130060, Orphanet:1899, Orphanet:99875, Orphanet:99876\|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796,Orpha	17	48264082	48264082	17:g.48264082T>A	ClinGen:CA8644370	CN169374 not specified;
NM_000088.4(COL1A1):c.3732C>T (p.Asn1244=)	1277	COL1A1	Likely benign	994196345	RCV000842284\|RCV001466174;	N	MedGen:CN517202\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48264083	48264083	17:g.48264083G>A	-
NM_000088.4(COL1A1):c.3727G>A (p.Glu1243Lys)	1277	COL1A1	Uncertain significance	373777457	RCV002042313\|RCV002463046;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:C3661900	17	48264088	48264088	48264088	-
NM_000088.4(COL1A1):c.3726C>T (p.Ile1242=)	1277	COL1A1	Likely benign	768572265	RCV000556202\|RCV002350178;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN230736	17	48264089	48264089	NC_000017.10:g.48264089G>A	ClinGen:CA500991713	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.3726C>A (p.Ile1242=)	1277	COL1A1	Likely benign	768572265	RCV000612310\|RCV002350465\|RCV002529491;	N	MedGen:CN169374\|MedGen:CN230736\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48264089	48264089	17:g.48264089G>T	ClinGen:CA8644372	CN169374 not specified;
NM_000088.4(COL1A1):c.3721del (p.Gln1241fs)	1277	COL1A1	Likely pathogenic	-1	RCV003140532;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48264094	48264094	NC_000017.10:g.48264094del	-
NM_000088.4(COL1A1):c.3711_3712delinsG (p.Ser1237fs)	1277	COL1A1	Pathogenic	2144536639	RCV001806309;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48264103	48264104	48264103	-
NM_000088.4(COL1A1):c.3688G>A (p.Glu1230Lys)	1277	COL1A1	Uncertain significance	376564562	RCV000539210\|RCV003114655;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN517202	17	48264127	48264127	NC_000017.10:g.48264127C>T	ClinGen:CA291542875	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.3680G>A (p.Arg1227His)	1277	COL1A1	Conflicting interpretations of pathogenicity	543809032	RCV000526752\|RCV001712452\|RCV002455947;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:C3661900\|MedGen:CN230736	17	48264135	48264135	17:g.48264135C>T	ClinGen:CA8644376	CN169374 not specified;
NM_000088.4(COL1A1):c.3677A>G (p.Asp1226Gly)	1277	COL1A1	Conflicting interpretations of pathogenicity	-1	RCV002751566\|RCV003156392;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN517202	17	48264138	48264138	NC_000017.10:g.48264138T>C	-
NM_000088.4(COL1A1):c.3668T>A (p.Val1223Glu)	1277	COL1A1	Likely benign	-1	RCV002591748;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48264147	48264147	NC_000017.10:g.48264147A>T	-
NM_000088.4(COL1A1):c.3665A>G (p.Asn1222Ser)	1277	COL1A1	Conflicting interpretations of pathogenicity	751784955	RCV001886721\|RCV003156356;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:C3661900	17	48264150	48264150	48264150	-
NM_000088.4(COL1A1):c.3654_3662del (p.Asp1219_Ala1221del)	1277	COL1A1	Pathogenic	-1	RCV003027620;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48264153	48264161	NC_000017.10:g.48264155_48264163del	-
NM_000088.4(COL1A1):c.3656A>G (p.Asp1219Gly)	1277	COL1A1	Likely pathogenic	2144537008	RCV001554917\|RCV002032604;	N	MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48264159	48264159	48264159	-
NM_000088.4(COL1A1):c.3652G>A (p.Ala1218Thr)	1277	COL1A1	Pathogenic	72656337	RCV001058312;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48264163	48264163	17:g.48264163C>T	-
NM_000088.4(COL1A1):c.3649C>T (p.Arg1217Trp)	1277	COL1A1	Uncertain significance	763727068	RCV001242997;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48264166	48264166	17:g.48264166G>A	-
NM_000088.4(COL1A1):c.3649del (p.Arg1217fs)	1277	COL1A1	Pathogenic	2144537122	RCV001388307;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48264166	48264166	48264165	-
NM_000088.4(COL1A1):c.3647A>G (p.Tyr1216Cys)	1277	COL1A1	Pathogenic/Likely pathogenic	1555571849	RCV000550757\|RCV001547583;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN517202	17	48264168	48264168	17:g.48264168T>C	ClinGen:CA400197506	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.3645C>T (p.Tyr1215=)	1277	COL1A1	Likely benign	-1	RCV003072106;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48264170	48264170		-
NM_000088.4(COL1A1):c.3641del (p.Arg1214fs)	1277	COL1A1	Pathogenic	1567752926	RCV000704508;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48264174	48264174	NC_000017.10:g.48264174del	-	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.3641G>A (p.Arg1214His)	1277	COL1A1	Likely benign	137987935	RCV001971853;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48264174	48264174	48264174	-
NM_000088.4(COL1A1):c.3640C>T (p.Arg1214Cys)	1277	COL1A1	Uncertain significance	2144537191	RCV002001174;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48264175	48264175	48264175	-
NM_000088.4(COL1A1):c.3638del (p.Gly1213fs)	1277	COL1A1	Pathogenic	2144537204	RCV001948462;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48264177	48264177	48264176	-
NM_000088.4(COL1A1):c.3637G>A (p.Gly1213Ser)	1277	COL1A1	Likely benign	-1	RCV003063668;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48264178	48264178	NC_000017.10:g.48264178C>T	-
NM_000088.4(COL1A1):c.3610C>A (p.Pro1204Thr)	1277	COL1A1	Uncertain significance	983970706	RCV001911832;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48264205	48264205	48264205	-
NM_000088.4(COL1A1):c.3607C>T (p.Gln1203Ter)	1277	COL1A1	Pathogenic	1114167399	RCV000490662;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48264208	48264208	NC_000017.10:g.48264208G>A	ClinGen:CA400197968	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.3593del (p.Phe1198fs)	1277	COL1A1	Pathogenic	1567752998	RCV000701852;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48264222	48264222	NC_000017.10:g.48264223del	-	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.3589_3590del (p.Asp1197fs)	1277	COL1A1	Pathogenic	72656336	RCV001382246;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48264225	48264226	48264224	-
NM_000088.4(COL1A1):c.3585T>C (p.Gly1195=)	1277	COL1A1	Conflicting interpretations of pathogenicity	1906585690	RCV001289260\|RCV002543002;	N	MedGen:CN517202\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48264230	48264230	48264230	-
NM_000088.4(COL1A1):c.3580G>A (p.Ala1194Thr)	1277	COL1A1	Conflicting interpretations of pathogenicity	769571473	RCV000659360\|RCV000689162\|RCV001123293\|RCV001123294\|RCV001124397\|RCV001549827;	N	MONDO:MONDO:0003900,MedGen:C0009782\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MONDO:MONDO:0007525,MedGen:C4551623,OMIM:130060, Orphanet:1899, Orphanet:99875, Orphanet:99876\|MONDO:MONDO:0007244,MedGen:C0020497,OMIM:114000,	17	48264235	48264235	17:g.48264235C>T	-	C0009782 Connective tissue disorder;
NM_000088.4(COL1A1):c.3578G>A (p.Ser1193Asn)	1277	COL1A1	Uncertain significance	1567753025	RCV000699710;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48264237	48264237	NC_000017.10:g.48264237C>T	-	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.3571C>G (p.Pro1191Ala)	1277	COL1A1	Conflicting interpretations of pathogenicity	142570406	RCV000877669\|RCV001557980\|RCV002279593;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:C3661900\|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666	17	48264244	48264244	17:g.48264244G>C	-
NM_000088.4(COL1A1):c.3569G>A (p.Gly1190Asp)	1277	COL1A1	Pathogenic	2144537730	RCV001382247;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48264246	48264246	48264246	-
NM_000088.4(COL1A1):c.3567del (p.Gly1190fs)	1277	COL1A1	Pathogenic	886042286	RCV000289700\|RCV000344709;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN517202	17	48264248	48264248	17:g.48264248_48264248del	ClinGen:CA10604035	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.3566dup (p.Gly1190fs)	1277	COL1A1	Pathogenic	1567753046	RCV000704055;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48264248	48264249	NC_000017.10:g.48264253dup	-	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.3566C>A (p.Pro1189His)	1277	COL1A1	Uncertain significance	1555571859	RCV000549852;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48264249	48264249	NC_000017.10:g.48264249G>T	ClinGen:CA400198243	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.3566del (p.Pro1189fs)	1277	COL1A1	Pathogenic	1567753046	RCV001972109;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48264249	48264249	48264248	-
NM_000088.4(COL1A1):c.3565C>A (p.Pro1189Thr)	1277	COL1A1	Uncertain significance	1057518340	RCV000414236\|RCV002523946;	N	MedGen:CN169374\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48264250	48264250	17:g.48264250G>T	ClinGen:CA16043029	CN169374 not specified;
NM_000088.4(COL1A1):c.3564C>G (p.Pro1188=)	1277	COL1A1	Likely benign	-1	RCV003109205;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48264251	48264251		-
NM_000088.4(COL1A1):c.3556C>G (p.Pro1186Ala)	1277	COL1A1	Conflicting interpretations of pathogenicity	766461654	RCV000996575\|RCV001307345\|RCV002471007;	N	MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MONDO:MONDO:0007525,MedGen:C4551623,OMIM:130060, Orphanet:1899, Orphanet:99875, Orphanet:99876	17	48264259	48264259	17:g.48264259G>C	-
NM_000088.4(COL1A1):c.3552A>T (p.Gly1184=)	1277	COL1A1	Likely benign	774547182	RCV001429165;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48264263	48264263	48264263	-
NM_000088.4(COL1A1):c.3546T>C (p.Pro1182=)	1277	COL1A1	Likely benign	1403898020	RCV001468833;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48264269	48264269	48264269	-
NM_000088.4(COL1A1):c.3540dup (p.Gly1181fs)	1277	COL1A1	Pathogenic	1555571874	RCV000556762;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48264274	48264275	NC_000017.10:g.48264280dup	ClinGen:CA658656694	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.3540C>T (p.Pro1180=)	1277	COL1A1	Benign/Likely benign	-1	RCV002337597\|RCV003099552;	N	MedGen:CN230736\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48264275	48264275		-
NM_000088.4(COL1A1):c.3540del (p.Gly1181fs)	1277	COL1A1	Pathogenic	-1	RCV002470273;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48264275	48264275	NC_000017.10:g.48264280del	-
NM_000088.4(COL1A1):c.3535C>A (p.Pro1179Thr)	1277	COL1A1	Uncertain significance	779767483	RCV001888252;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48264280	48264280	48264280	-
NM_000088.4(COL1A1):c.3535C>T (p.Pro1179Ser)	1277	COL1A1	Likely benign	-1	RCV003063531;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48264280	48264280	NC_000017.10:g.48264280G>A	-
NM_000088.4(COL1A1):c.3532-3C>T	1277	COL1A1	Conflicting interpretations of pathogenicity	369283493	RCV001950041\|RCV002276940;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000, Orphanet:98249	17	48264286	48264286	48264286	-
NM_000088.4(COL1A1):c.3532-6G>A	1277	COL1A1	Likely benign	373386837	RCV002155393;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48264289	48264289	48264289	-
NM_000088.4(COL1A1):c.3532-8C>T	1277	COL1A1	Likely benign	1555571885	RCV000631502;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48264291	48264291	17:g.48264291G>A	ClinGen:CA658798886	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.3532-12C>T	1277	COL1A1	Conflicting interpretations of pathogenicity	200458986	RCV001196192\|RCV002222199\|RCV002560218;	N	MONDO:MONDO:0008148,MedGen:C0268363,OMIM:166220, Orphanet:216820, Orphanet:666\|\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48264295	48264295	17:g.48264295G>A	-
NM_000088.4(COL1A1):c.3532-13C>T	1277	COL1A1	Likely benign	369694934	RCV000600322\|RCV002529536;	N	MedGen:CN169374\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48264296	48264296	17:g.48264296G>A	ClinGen:CA8644408	CN169374 not specified;
NM_000088.4(COL1A1):c.3532-14C>T	1277	COL1A1	Likely benign	-1	RCV002885665;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48264297	48264297	NC_000017.10:g.48264297G>A	-
NM_000088.4(COL1A1):c.3532-18T>C	1277	COL1A1	Likely benign	1906596208	RCV002107954;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48264301	48264301	48264301	-
NM_000088.4(COL1A1):c.3531+14C>T	1277	COL1A1	Benign/Likely benign	199766533	RCV000603500\|RCV002531502;	N	MedGen:CN169374\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48264362	48264362	17:g.48264362G>A	ClinGen:CA8644423	CN169374 not specified;
NM_000088.4(COL1A1):c.3531+10C>A	1277	COL1A1	Benign	41316721	RCV000178614\|RCV000548921\|RCV001579373\|RCV002277409\|RCV002277408;	N	MedGen:CN169374\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:C3661900\|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000, Orphanet:98249\|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666	17	48264366	48264366	17:g.48264366G>T	ClinGen:CA202956	CN169374 not specified;
NM_000088.4(COL1A1):c.3531+10C>T	1277	COL1A1	Likely benign	41316721	RCV001492137;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48264366	48264366	48264366	-
NM_000088.4(COL1A1):c.3531+6T>C	1277	COL1A1	Uncertain significance	-1	RCV002617696;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48264370	48264370	NC_000017.10:g.48264370A>G	-
NM_000088.4(COL1A1):c.3531+5G>A	1277	COL1A1	Pathogenic	72656327	RCV001052756;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48264371	48264371	17:g.48264371C>T	-
NM_000088.4(COL1A1):c.3531+4T>C	1277	COL1A1	Uncertain significance	145251615	RCV001306247\|RCV002486194;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|8 conditions	17	48264372	48264372	48264372	-
NM_000088.4(COL1A1):c.3531+3A>T	1277	COL1A1	Uncertain significance	1906604888	RCV001232603;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48264373	48264373	17:g.48264373T>A	-
NM_000088.4(COL1A1):c.3531+2T>C	1277	COL1A1	Pathogenic	-1	RCV003064467;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48264374	48264374	NC_000017.10:g.48264374A>G	-
NM_000088.4(COL1A1):c.3531+1G>A	1277	COL1A1	Pathogenic/Likely pathogenic	72656326	RCV000689406\|RCV001796185;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666	17	48264375	48264375	NC_000017.10:g.48264375C>T	-	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.3531+1G>C	1277	COL1A1	Pathogenic	72656326	RCV001382248;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48264375	48264375	48264375	-
NM_000088.4(COL1A1):c.3531+1G>T	1277	COL1A1	Pathogenic	-1	RCV002288400;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48264375	48264375	48264375	-
NM_000088.4(COL1A1):c.3529G>A (p.Val1177Ile)	1277	COL1A1	Uncertain significance	41316719	RCV001232664;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48264378	48264378	17:g.48264378C>T	-
NM_000088.4(COL1A1):c.3509G>A (p.Arg1170His)	1277	COL1A1	Likely benign	-1	RCV002971301;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48264398	48264398	NC_000017.10:g.48264398C>T	-
NM_000088.4(COL1A1):c.3508C>T (p.Arg1170Cys)	1277	COL1A1	Uncertain significance	1373318649	RCV001063892\|RCV002339320;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN230736	17	48264399	48264399	17:g.48264399G>A	-
NM_000088.4(COL1A1):c.3505G>A (p.Gly1169Ser)	1277	COL1A1	Pathogenic/Likely pathogenic	67815019	RCV000490739\|RCV000586484\|RCV000755941\|RCV001814161\|RCV002281097;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MedGen:CN517202\|Human Phenotype Ontology:HP:0000924,MedGen:C4021790\|MONDO:MONDO:0007244,MedGen:C0020	17	48264402	48264402	NC_000017.10:g.48264402C>T	ClinGen:CA291542908	C0029434 Osteogenesis imperfecta;
NM_000088.4(COL1A1):c.3504C>T (p.Arg1168=)	1277	COL1A1	Likely benign	370529603	RCV000603747\|RCV001398828\|RCV001579993\|RCV002279407\|RCV002279408\|RCV002456345;	N	MedGen:CN169374\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN517202\|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000, Orphanet:98249\|Med	17	48264403	48264403	17:g.48264403G>A	ClinGen:CA8644426	CN169374 not specified;
NM_000088.4(COL1A1):c.3496G>A (p.Gly1166Ser)	1277	COL1A1	Pathogenic	72656324	RCV000811744;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48264411	48264411	17:g.48264411C>T	-
NM_000088.4(COL1A1):c.3495del (p.Gly1166fs)	1277	COL1A1	Pathogenic	1555571916	RCV000560922\|RCV000627431\|RCV002506380;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:C3661900\|8 conditions	17	48264412	48264412	NC_000017.10:g.48264412del	ClinGen:CA658656697	CN517202 not provided;
NM_000088.4(COL1A1):c.3494dup (p.Gly1166fs)	1277	COL1A1	Pathogenic	1598286050	RCV002047303;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48264412	48264413	48264412	-
NM_000088.4(COL1A1):c.3494del (p.Pro1165fs)	1277	COL1A1	Pathogenic	1598286050	RCV000991296\|RCV000991596;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN517202	17	48264413	48264413	17:g.48264413_48264413del	-
NM_000088.4(COL1A1):c.3487G>A (p.Gly1163Arg)	1277	COL1A1	Pathogenic	1567753329	RCV000706274;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48264420	48264420	NC_000017.10:g.48264420C>T	-	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.3471T>G (p.Gly1157=)	1277	COL1A1	Likely benign	2144538994	RCV002170282;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48264436	48264436	48264436	-
NM_000088.4(COL1A1):c.3470G>A (p.Gly1157Asp)	1277	COL1A1	Pathogenic	72656323	RCV001389975;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48264437	48264437	48264437	-
NM_000088.4(COL1A1):c.3469G>A (p.Gly1157Ser)	1277	COL1A1	Likely pathogenic	1278821174	RCV001986957;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48264438	48264438	48264438	-
NM_000088.4(COL1A1):c.3468C>T (p.Asn1156=)	1277	COL1A1	Likely benign	149980662	RCV000536412\|RCV001696937\|RCV002460084;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:C3661900\|MedGen:CN230736	17	48264439	48264439	17:g.48264439G>A	ClinGen:CA8644430	CN169374 not specified;
NM_000088.4(COL1A1):c.3468C>G (p.Asn1156Lys)	1277	COL1A1	Likely benign	-1	RCV003013620;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48264439	48264439	NC_000017.10:g.48264439G>C	-
NM_000088.4(COL1A1):c.3465C>T (p.Leu1155=)	1277	COL1A1	Likely benign	368746726	RCV000616365\|RCV001471921\|RCV002279427\|RCV002460095;	N	MedGen:CN517202\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000, Orphanet:98249\|MedGen:CN230736	17	48264442	48264442	17:g.48264442G>A	ClinGen:CA8644431	CN169374 not specified;
NM_000088.4(COL1A1):c.3459T>G (p.Asp1153Glu)	1277	COL1A1	Uncertain significance	1800218	RCV001887822;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48264448	48264448	48264448	-
NM_000088.4(COL1A1):c.3452del (p.Gly1151fs)	1277	COL1A1	Pathogenic	-1	RCV003028280;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48264455	48264455	NC_000017.10:g.48264456del	-
NM_000088.4(COL1A1):c.3451G>A (p.Gly1151Ser)	1277	COL1A1	Pathogenic	72656320	RCV001059157;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48264456	48264456	17:g.48264456C>T	-
NM_000088.4(COL1A1):c.3445G>T (p.Ala1149Ser)	1277	COL1A1	Uncertain significance	-1	RCV002786320;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48264462	48264462	NC_000017.10:g.48264462C>A	-
NM_000088.4(COL1A1):c.3441T>C (p.Ala1147=)	1277	COL1A1	Likely benign	768896689	RCV002081249\|RCV002454422;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN230736	17	48264466	48264466	48264466	-
NM_000088.4(COL1A1):c.3431dup (p.Gly1145fs)	1277	COL1A1	Pathogenic	1555571942	RCV000631484;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48264475	48264476	17:g.48264475_48264476insG	ClinGen:CA658798887	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.3432del (p.Gly1145fs)	1277	COL1A1	Pathogenic	2144539233	RCV002007487;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48264475	48264475	48264474	-
NM_000088.4(COL1A1):c.3429C>G (p.Pro1143=)	1277	COL1A1	Likely benign	762386727	RCV001416890;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48264478	48264478	48264478	-
NC_000017.11:g.50187123dup	1277	COL1A1	Pathogenic	-1	RCV002867660;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48264481	48264482		-
NM_000088.4(COL1A1):c.3424-5T>C	1277	COL1A1	Likely benign	2144539347	RCV002168662;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48264488	48264488	48264488	-
NM_000088.4(COL1A1):c.3424-6C>G	1277	COL1A1	Uncertain significance	370865189	RCV000490697;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48264489	48264489	NC_000017.10:g.48264489G>C	ClinGen:CA645293905	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.3424-12C>T	1277	COL1A1	Likely benign	-1	RCV002722154;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48264495	48264495	NC_000017.10:g.48264495G>A	-
NC_000017.10:g.(?_48264825)_(48280990_?)dup	1277	COL1A1	Uncertain significance	-1	RCV000535870;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48264825	48280990		-	C0023931 166200 Osteogenesis imperfecta type I;
NC_000017.10:g.(?_48264825)_(48278894_?)dup	1277	COL1A1	Uncertain significance	-1	RCV000631515;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48264825	48278894		-	C0023931 166200 Osteogenesis imperfecta type I;
NC_000017.10:g.(?_48264825)_(48278874_?)dup	1277	COL1A1	Uncertain significance	-1	RCV003119284;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48264825	48278874		-
NM_000088.4(COL1A1):c.3423+9T>C	1277	COL1A1	Likely benign	-1	RCV002828200;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48264836	48264836	NC_000017.10:g.48264836A>G	-
NM_000088.4(COL1A1):c.3423_3423+1del	1277	COL1A1	Pathogenic	2144540520	RCV001946975;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48264844	48264845	48264843	-
NM_000088.4(COL1A1):c.3423A>C (p.Arg1141=)	1277	COL1A1	Conflicting interpretations of pathogenicity	148737409	RCV000530956\|RCV001125394\|RCV001125395\|RCV001124398\|RCV002279333\|RCV002456053;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MONDO:MONDO:0007244,MedGen:C0020497,OMIM:114000, Orphanet:1310\|MONDO:MONDO:0007525,MedGen:C4551623,OMIM:130060, Orphanet:1899, Orphanet:99875, Orphanet:99876\|MONDO:MONDO:0019019,Me	17	48264845	48264845	NC_000017.10:g.48264845T>G	ClinGen:CA8644454	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.3421C>T (p.Arg1141Ter)	1277	COL1A1	Pathogenic	72656314	RCV000018878\|RCV000582506\|RCV000599479;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MedGen:C3661900	17	48264847	48264847	17:g.48264847G>A	ClinGen:CA281092,OMIM:120150.0055	CN517202 not provided;
NM_000088.4(COL1A1):c.3419C>T (p.Pro1140Leu)	1277	COL1A1	Uncertain significance	2144540571	RCV001370478;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48264849	48264849	48264849	-
NM_000088.4(COL1A1):c.3417T>C (p.Gly1139=)	1277	COL1A1	Likely benign	-1	RCV003110759;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48264851	48264851		-
NM_000088.4(COL1A1):c.3407G>C (p.Gly1136Ala)	1277	COL1A1	Likely pathogenic	1555572013	RCV000559468;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48264861	48264861	NC_000017.10:g.48264861C>G	ClinGen:CA400199220	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.3399del (p.Ala1134fs)	1277	COL1A1	Pathogenic	1906658881	RCV001225058;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48264869	48264869	17:g.48264869_48264869del	-
NM_000088.4(COL1A1):c.3396T>G (p.Ser1132=)	1277	COL1A1	Benign	-1	RCV002962585;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48264872	48264872		-
NM_000088.4(COL1A1):c.3389G>A (p.Gly1130Asp)	1277	COL1A1	Likely pathogenic	1567753699	RCV000695079;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48264879	48264879	NC_000017.10:g.48264879C>T	-	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.3389del (p.Gly1130fs)	1277	COL1A1	Pathogenic	-1	RCV002882075;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48264879	48264879	NC_000017.10:g.48264880del	-
NM_000088.4(COL1A1):c.3385C>T (p.Gln1129Ter)	1277	COL1A1	Pathogenic	2144540723	RCV001387169;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48264883	48264883	48264883	-
NM_000088.4(COL1A1):c.3377del (p.Pro1126fs)	1277	COL1A1	Pathogenic	-1	RCV003016291;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48264891	48264891	NC_000017.10:g.48264892del	-
NM_000088.4(COL1A1):c.3376C>T (p.Pro1126Ser)	1277	COL1A1	Likely benign	-1	RCV002603377;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48264892	48264892	NC_000017.10:g.48264892G>A	-
NM_000088.4(COL1A1):c.3370-12_3370-11insAG	1277	COL1A1	Uncertain significance	-1	RCV002847089;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48264909	48264910	NC_000017.10:g.48264909_48264910insCT	-
NM_000088.4(COL1A1):c.3370-13A>T	1277	COL1A1	Likely benign	-1	RCV002847090;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48264911	48264911	NC_000017.10:g.48264911T>A	-
NC_000017.10:g.(?_48265217)_(48278874_?)dup	1277	COL1A1	Uncertain significance	-1	RCV003119283;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48265217	48278874		-
NM_000088.4(COL1A1):c.3369+5G>C	1277	COL1A1	Conflicting interpretations of pathogenicity	1555572075	RCV000547028\|RCV003403257;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|	17	48265232	48265232	17:g.48265232C>G	ClinGen:CA658656699	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.3369+1G>A	1277	COL1A1	Pathogenic	1906695650	RCV001072096;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48265236	48265236	17:g.48265236C>T	-
NM_000088.4(COL1A1):c.3365C>G (p.Pro1122Arg)	1277	COL1A1	Uncertain significance	-1	RCV003111994;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48265241	48265241	NC_000017.10:g.48265241G>C	-
NM_000088.4(COL1A1):c.3347_3364del (p.Leu1116_Gly1121del)	1277	COL1A1	Likely pathogenic	2144542232	RCV002226989;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48265242	48265259	48265241	-
NM_000088.4(COL1A1):c.3360del (p.Gly1121fs)	1277	COL1A1	Pathogenic/Likely pathogenic	1260429820	RCV000518462\|RCV001065243\|RCV003326449;	N	MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MONDO:MONDO:0008148,MedGen:C0268363,OMIM:166220, Orphanet:216820, Orphanet:666	17	48265246	48265246	17:g.48265246_48265246del	ClinGen:CA658656700	CN517202 not provided;
NM_000088.4(COL1A1):c.3355C>A (p.Pro1119Thr)	1277	COL1A1	Likely benign	-1	RCV003111885;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48265251	48265251	NC_000017.10:g.48265251G>T	-
NM_000088.4(COL1A1):c.3345C>T (p.Gly1115=)	1277	COL1A1	Likely benign	-1	RCV002632585;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48265261	48265261		-
NM_000088.4(COL1A1):c.3333T>C (p.Arg1111=)	1277	COL1A1	Conflicting interpretations of pathogenicity	372044347	RCV000952091\|RCV001125398\|RCV001125397\|RCV001125396\|RCV002320169;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MONDO:MONDO:0007525,MedGen:C4551623,OMIM:130060, Orphanet:1899, Orphanet:99875, Orphanet:99876\|MONDO:MONDO:0007244,MedGen:C0020497,OMIM:114000, Orphanet:1310\|MONDO:MONDO:0019019,Me	17	48265273	48265273	17:g.48265273A>G	-
NM_000088.4(COL1A1):c.3331C>T (p.Arg1111Cys)	1277	COL1A1	Uncertain significance	2144542395	RCV001947683;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48265275	48265275	48265275	-
NM_000088.4(COL1A1):c.3319A>T (p.Ile1107Leu)	1277	COL1A1	Uncertain significance	-1	RCV002593356;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48265287	48265287	NC_000017.10:g.48265287T>A	-
NM_000088.4(COL1A1):c.3315_3316del (p.Gly1106fs)	1277	COL1A1	Pathogenic	-1	RCV003048151;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48265290	48265291	NC_000017.10:g.48265290CT[1]	-
NM_000088.4(COL1A1):c.3313A>G (p.Arg1105Gly)	1277	COL1A1	Uncertain significance	1555572101	RCV000521851\|RCV002525224;	N	MedGen:CN517202\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48265293	48265293	17:g.48265293T>C	ClinGen:CA400199752	CN169374 not specified;
NM_000088.4(COL1A1):c.3309C>T (p.Gly1103=)	1277	COL1A1	Benign/Likely benign	142312753	RCV001510275\|RCV001722647\|RCV002325151;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:C3661900\|MedGen:CN230736	17	48265297	48265297	17:g.48265297G>A	ClinGen:CA8644484	CN169374 not specified;
NM_000088.4(COL1A1):c.3304C>T (p.Gln1102Ter)	1277	COL1A1	Pathogenic	2144542582	RCV001888800;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48265302	48265302	48265302	-
NM_000088.4(COL1A1):c.3302_3303insTTGTAACTATTATGAGTCCTAGTTGACTTGAAGTGGAGAAGGCTACGATTTTTTTGAAGCCGCCTA	1277	COL1A1	Pathogenic	2144542594	RCV001390069;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48265303	48265304	48265303	-
NM_000088.4(COL1A1):c.3301G>T (p.Glu1101Ter)	1277	COL1A1	Pathogenic	867628651	RCV000627343\|RCV001220819;	N	MedGen:CN517202\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48265305	48265305	17:g.48265305C>A	ClinGen:CA400199821	CN517202 not provided;
NM_000088.4(COL1A1):c.3301G>A (p.Glu1101Lys)	1277	COL1A1	Uncertain significance	-1	RCV003074481;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48265305	48265305	NC_000017.10:g.48265305C>T	-
NM_000088.4(COL1A1):c.3300C>A (p.Gly1100=)	1277	COL1A1	Likely benign	-1	RCV002771476;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48265306	48265306		-
NM_000088.4(COL1A1):c.3285dup (p.Lys1096fs)	1277	COL1A1	Pathogenic	1555572120	RCV000541545;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48265320	48265321	17:g.48265320_48265321insG	ClinGen:CA658656701	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.3283_3284dup (p.Asp1095fs)	1277	COL1A1	Pathogenic	1555572121	RCV000529089;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48265321	48265322	17:g.48265321_48265322insTC	ClinGen:CA658656702	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.3279T>G (p.Arg1093=)	1277	COL1A1	Likely benign	-1	RCV002619507;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48265327	48265327		-
NM_000088.4(COL1A1):c.3278G>A (p.Arg1093His)	1277	COL1A1	Conflicting interpretations of pathogenicity	781491172	RCV000871482\|RCV001125399\|RCV001125400\|RCV001125401\|RCV001289259\|RCV002442860;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MONDO:MONDO:0007244,MedGen:C0020497,OMIM:114000, Orphanet:1310\|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MONDO:MONDO:0007525,MedGen:C4551623,OM	17	48265328	48265328	17:g.48265328C>T	-
NM_000088.4(COL1A1):c.3277C>T (p.Arg1093Cys)	1277	COL1A1	Uncertain significance	72656307	RCV000148991\|RCV000631466\|RCV001753528\|RCV002288660\|RCV002277297\|RCV002492548;	N	Human Phenotype Ontology:HP:0012125,MONDO:MONDO:0008315,MedGen:C0376358,OMIM:176807, Orphanet:1331\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:C3661900\|MONDO:MONDO:0030854,MedGen:C5436842,OMIM:619115\|MONDO:MONDO:00	17	48265329	48265329	NC_000017.10:g.48265329G>A	ClinGen:CA174070	C0376358 176807 Malignant tumor of prostate;
NM_000088.4(COL1A1):c.3275C>T (p.Pro1092Leu)	1277	COL1A1	Uncertain significance	-1	RCV002619467;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48265331	48265331	NC_000017.10:g.48265331G>A	-
NM_000088.4(COL1A1):c.3269A>C (p.Gln1090Pro)	1277	COL1A1	Uncertain significance	1906705094	RCV001881659;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48265337	48265337	48265337	-
NM_000088.4(COL1A1):c.3268C>T (p.Gln1090Ter)	1277	COL1A1	Pathogenic	2144542850	RCV002472332\|RCV002247217;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:C3661900	17	48265338	48265338	48265338	-
NM_000088.4(COL1A1):c.3262-1G>A	1277	COL1A1	Pathogenic	2144542880	RCV001974991;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48265345	48265345	48265345	-
NM_000088.4(COL1A1):c.3262-9C>G	1277	COL1A1	Likely benign	777883502	RCV002204656;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48265353	48265353	48265353	-
NM_000088.4(COL1A1):c.3262-15C>T	1277	COL1A1	Likely benign	-1	RCV002953102;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48265359	48265359	NC_000017.10:g.48265359G>A	-
NM_000088.4(COL1A1):c.3262-20T>A	1277	COL1A1	Likely benign	1906706503	RCV002165429;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48265364	48265364	48265364	-
NM_000088.4(COL1A1):c.3261+20C>G	1277	COL1A1	Likely benign	751540399	RCV002165873;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48265437	48265437	48265437	-
NM_000088.4(COL1A1):c.3261+18T>C	1277	COL1A1	Likely benign	-1	RCV002975842;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48265439	48265439	NC_000017.10:g.48265439A>G	-
NM_000088.4(COL1A1):c.3261+11T>C	1277	COL1A1	Likely benign	-1	RCV002576719;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48265446	48265446	NC_000017.10:g.48265446A>G	-
NM_000088.4(COL1A1):c.3261+10C>G	1277	COL1A1	Likely benign	752779091	RCV002539988;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48265447	48265447	17:g.48265447G>C	-
NM_000088.4(COL1A1):c.3261+9C>A	1277	COL1A1	Likely benign	-1	RCV002898558;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48265448	48265448	NC_000017.10:g.48265448G>T	-
NM_000088.4(COL1A1):c.3261+2dup	1277	COL1A1	Uncertain significance	1598287275	RCV000824325;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48265454	48265455	17:g.48265454_48265455insA	-
NM_000088.4(COL1A1):c.3261del (p.Gly1088fs)	1277	COL1A1	Pathogenic	2144543361	RCV001944719;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48265457	48265457	48265456	-
NM_000088.4(COL1A1):c.3261C>T (p.Ala1087=)	1277	COL1A1	Conflicting interpretations of pathogenicity	-1	RCV002324970\|RCV003120895;	N	MedGen:CN230736\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48265457	48265457		-
NM_000088.4(COL1A1):c.3258C>T (p.Pro1086=)	1277	COL1A1	Conflicting interpretations of pathogenicity	200319927	RCV000597893\|RCV001473676\|RCV003380626;	N	MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN230736	17	48265460	48265460	17:g.48265460G>A	ClinGen:CA8644507	CN169374 not specified;
NM_000088.4(COL1A1):c.3256C>T (p.Pro1086Ser)	1277	COL1A1	Uncertain significance	-1	RCV002614913\|RCV003427573;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:C3661900	17	48265462	48265462	NC_000017.10:g.48265462G>A	-
NM_000088.4(COL1A1):c.3255C>T (p.Gly1085=)	1277	COL1A1	Benign/Likely benign	369670483	RCV000877356\|RCV001474588\|RCV002323653;	N	MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN230736	17	48265463	48265463	17:g.48265463G>A	ClinGen:CA8644508	CN169374 not specified;
NM_000088.4(COL1A1):c.3255C>A (p.Gly1085=)	1277	COL1A1	Likely benign	369670483	RCV001459772\|RCV003298795;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN230736	17	48265463	48265463	48265463	-
NM_000088.4(COL1A1):c.3252T>G (p.Arg1084=)	1277	COL1A1	Likely benign	-1	RCV002585421;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48265466	48265466		-
NM_000088.4(COL1A1):c.3251G>A (p.Arg1084His)	1277	COL1A1	Uncertain significance	746341018	RCV000658788\|RCV001855382;	N	MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48265467	48265467	17:g.48265467C>T	-	CN517202 not provided;
NM_000088.4(COL1A1):c.3250del (p.Arg1084fs)	1277	COL1A1	Pathogenic	2144543514	RCV002014723;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48265468	48265468	48265467	-
NM_000088.4(COL1A1):c.3250C>T (p.Arg1084Cys)	1277	COL1A1	Uncertain significance	-1	RCV003112849;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48265468	48265468	NC_000017.10:g.48265468G>A	-
NM_000088.4(COL1A1):c.3238_3246dup (p.Gly1082_Ala1083insProValGly)	1277	COL1A1	Uncertain significance	-1	RCV002898738;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48265471	48265472	NC_000017.10:g.48265475_48265483dup	-
NM_000088.4(COL1A1):c.3246C>T (p.Gly1082=)	1277	COL1A1	Likely benign	772906802	RCV001455510\|RCV002320159;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN230736	17	48265472	48265472	17:g.48265472G>A	-
NM_000088.4(COL1A1):c.3245del (p.Gly1082fs)	1277	COL1A1	Likely pathogenic	1555572161	RCV000659359;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48265473	48265473	17:g.48265473_48265473del	-	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.3243T>C (p.Val1081=)	1277	COL1A1	Benign/Likely benign	1800217	RCV000178543\|RCV000553105\|RCV000659358\|RCV001127485\|RCV001127484\|RCV001127486\|RCV002277405\|RCV002444713\|RCV002503689\|RCV003114328;	N	MedGen:CN169374\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MONDO:MONDO:0003900,MedGen:C0009782\|MONDO:MONDO:0007525,MedGen:C4551623,OMIM:130060, Orphanet:1899, Orphanet:99875, Orphanet:99876\|MONDO:MONDO:0019019,MeSH:D010013	17	48265475	48265475	17:g.48265475A>G	ClinGen:CA202912	C0009782 Connective tissue disorder;
NM_000088.4(COL1A1):c.3237C>A (p.Gly1079=)	1277	COL1A1	Conflicting interpretations of pathogenicity	374853330	RCV000659357\|RCV001471006\|RCV001698284\|RCV002279205\|RCV002446732;	N	MONDO:MONDO:0003900,MedGen:C0009782\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:C3661900\|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000, Orphanet:98249\|MedGen:CN230736	17	48265481	48265481	17:g.48265481G>T	ClinGen:CA8644516	C0009782 Connective tissue disorder;
NM_000088.4(COL1A1):c.3237C>T (p.Gly1079=)	1277	COL1A1	Likely benign	-1	RCV002445574\|RCV003102336;	N	MedGen:CN230736\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48265481	48265481		-
NM_000088.4(COL1A1):c.3233_3236del (p.Val1078fs)	1277	COL1A1	Pathogenic	1114167398	RCV000490747;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48265482	48265485	NC_000017.10:g.48265482_48265485delCCGA	ClinGen:CA645293906	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.3235G>A (p.Gly1079Ser)	1277	COL1A1	Pathogenic	72654802	RCV000018863\|RCV001596935\|RCV003398544;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:C3661900\|	17	48265483	48265483	17:g.48265483C>T	ClinGen:CA281089,OMIM:120150.0040	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.3234C>T (p.Val1078=)	1277	COL1A1	Likely benign	-1	RCV002942192;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48265484	48265484		-
NM_000088.4(COL1A1):c.3226G>A (p.Gly1076Ser)	1277	COL1A1	Pathogenic/Likely pathogenic	67394386	RCV000490696\|RCV000596247\|RCV001037391\|RCV001330770\|RCV003403128;	N	MONDO:MONDO:0009804,MedGen:C0268362,OMIM:259420, Orphanet:216812, Orphanet:666\|MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MONDO:MONDO:0008148,MedGen:C0268363,OMIM:166220, Orphanet:216820, Orphanet:666\|	17	48265492	48265492	NC_000017.10:g.48265492C>T	ClinGen:CA291543018	CN169374 not specified;
NM_000088.4(COL1A1):c.3225del (p.Gly1076fs)	1277	COL1A1	Pathogenic	1567754277	RCV000685308;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48265493	48265493	NC_000017.10:g.48265494del	-	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.3225C>A (p.Ala1075=)	1277	COL1A1	Likely benign	-1	RCV003056832;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48265493	48265493		-
NM_000088.4(COL1A1):c.3223= (p.Ala1075=)	1277	COL1A1	Benign	1800215	RCV000341625\|RCV001520819\|RCV001589316\|RCV001589318\|RCV001589319\|RCV001589317;	N	MedGen:CN169374\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MONDO:MONDO:0009804,MedGen:C0268362,OMIM:259420, Orphanet:216812, Orphanet:666\|MONDO:MONDO:0008147,MedGen:C0268358,OMIM:166210, Orphanet:216804\|MONDO:MONDO:0007525	17	48265495	48265495	17:g.48265495T>C	ClinGen:CA8644520	CN169374 not specified;
NM_000088.4(COL1A1):c.3223G>A (p.Ala1075Thr)	1277	COL1A1	Benign	1800215	RCV000439178\|RCV000540621\|RCV003224274;	N	MedGen:CN169374\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|8 conditions	17	48265495	48265495	17:g.48265495T>.	ClinGen:CA16607365	CN169374 not specified;
NM_000088.4(COL1A1):c.3222C>T (p.Pro1074=)	1277	COL1A1	Likely benign	764134427	RCV001480867;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48265496	48265496	48265496	-
NM_000088.4(COL1A1):c.3208-56_3215del	1277	COL1A1	Likely pathogenic	-1	RCV002889574;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48265503	48265566	NC_000017.10:g.48265509_48265572del	-
NM_000088.4(COL1A1):c.3208-4C>A	1277	COL1A1	Likely benign	1221398462	RCV001454242;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48265514	48265514	48265514	-
NM_000088.4(COL1A1):c.3207+12G>A	1277	COL1A1	Likely benign	-1	RCV003082915;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48265879	48265879	NC_000017.10:g.48265879C>T	-
NM_000088.4(COL1A1):c.3207+8G>T	1277	COL1A1	Conflicting interpretations of pathogenicity	866785621	RCV000598221\|RCV002531008;	N	MedGen:CN517202\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48265883	48265883	17:g.48265883C>A	ClinGen:CA291543054	CN169374 not specified;
NM_000088.4(COL1A1):c.3207+4A>T	1277	COL1A1	Uncertain significance	2144545163	RCV001880730;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48265887	48265887	48265887	-
NM_000088.4(COL1A1):c.3207+2T>C	1277	COL1A1	Pathogenic	2144545179	RCV001994472;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48265889	48265889	48265889	-
NM_000088.4(COL1A1):c.3207+1G>C	1277	COL1A1	Pathogenic/Likely pathogenic	1555572239	RCV000528176\|RCV003403256;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|	17	48265890	48265890	17:g.48265890C>G	ClinGen:CA400200495	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.3207+1G>A	1277	COL1A1	Pathogenic	1555572239	RCV000578505\|RCV000631486\|RCV003313966;	N	MedGen:CN517202\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MONDO:MONDO:0030854,MedGen:C5436842,OMIM:619115	17	48265890	48265890	17:g.48265890C>T	ClinGen:CA400200497	CN517202 not provided;
NM_000088.4(COL1A1):c.3196C>T (p.Arg1066Cys)	1277	COL1A1	Conflicting interpretations of pathogenicity	72654799	RCV000485287\|RCV000794277\|RCV001270299\|RCV002323823;	N	MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MONDO:MONDO:0030854,MedGen:C5436842,OMIM:619115\|MedGen:CN230736	17	48265902	48265902	17:g.48265902G>A	ClinGen:CA8644546,OMIM:120150.0071	CN517202 not provided;
NM_000088.4(COL1A1):c.3191del (p.Gly1064fs)	1277	COL1A1	Pathogenic	-1	RCV003031730;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48265907	48265907	NC_000017.10:g.48265908del	-
NM_000088.4(COL1A1):c.3189del (p.Ser1063fs)	1277	COL1A1	Pathogenic	-1	RCV003019867;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48265909	48265909	NC_000017.10:g.48265909del	-
NM_000088.4(COL1A1):c.3183C>T (p.Gly1061=)	1277	COL1A1	Uncertain significance	1598287862	RCV000793107;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48265915	48265915	17:g.48265915G>A	-
NM_000088.4(COL1A1):c.3176C>T (p.Pro1059Leu)	1277	COL1A1	Uncertain significance	547798347	RCV001066956\|RCV002320336;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN230736	17	48265922	48265922	17:g.48265922G>A	-
NM_000088.4(COL1A1):c.3157_3170del (p.Ala1053fs)	1277	COL1A1	Pathogenic	1555572249	RCV000484627\|RCV001851156;	N	MedGen:CN517202\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48265928	48265941	17:g.48265928_48265941del	ClinGen:CA16620474	CN517202 not provided;
NM_000088.4(COL1A1):c.3168dup (p.Val1057fs)	1277	COL1A1	Pathogenic	-1	RCV003050485;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48265929	48265930	NC_000017.10:g.48265933dup	-
NM_000088.4(COL1A1):c.3168C>T (p.Pro1056=)	1277	COL1A1	Likely benign	913216741	RCV001479544\|RCV002324066;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN230736	17	48265930	48265930	48265930	-
NM_000088.4(COL1A1):c.3162del (p.Gly1055fs)	1277	COL1A1	Pathogenic	72654794	RCV000301937\|RCV002521935;	N	MedGen:CN517202\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48265936	48265936	17:g.48265936_48265936del	ClinGen:CA10605099	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.3(COL1A1):c.3124_3160del (p.Ala1042fs)	1277	COL1A1	Pathogenic	1567754589	RCV000761564;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48265938	48265974	NC_000017.10:g.48265941_48265977del	-
NM_000088.4(COL1A1):c.3141TCCTGGTGC[3] (p.Gly1055_Pro1056insAlaProGly)	1277	COL1A1	Pathogenic/Likely pathogenic	74315111	RCV000414247\|RCV002260513\|RCV002278640\|RCV002523919;	N	MedGen:C3661900\|MONDO:MONDO:0008147,MedGen:C0268358,OMIM:166210, Orphanet:216804\|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48265939	48265940	17:g.48265939_48265940insGCACCAGGA	ClinGen:CA16042995,LOVD 3:COL1A1_000341,OMIM:120150.0060	CN517202 not provided;
NM_000088.4(COL1A1):c.3141TCCTGGTGC[1] (p.1047APG[2])	1277	COL1A1	Pathogenic	74315111	RCV000413092\|RCV000623236\|RCV001270301\|RCV002278641\|RCV002524640\|RCV003422381;	N	MedGen:C3661900\|MONDO:MONDO:0008147,MedGen:C0268358,OMIM:166210, Orphanet:216804\|MONDO:MONDO:0030854,MedGen:C5436842,OMIM:619115\|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200,O	17	48265940	48265948	17:g.48265940_48265948del	ClinGen:CA16043049,LOVD 3:COL1A1_00342,OMIM:120150.0073	CN517202 not provided;
NM_000088.4(COL1A1):c.3156del (p.Ala1053fs)	1277	COL1A1	Pathogenic	-1	RCV002791761;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48265942	48265942	NC_000017.10:g.48265942del	-
NM_000088.4(COL1A1):c.3155G>C (p.Gly1052Ala)	1277	COL1A1	Pathogenic	-1	RCV003072872;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48265943	48265943	NC_000017.10:g.48265943C>G	-
NM_000088.4(COL1A1):c.3152C>T (p.Pro1051Leu)	1277	COL1A1	Uncertain significance	2144545694	RCV001905363;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48265946	48265946	48265946	-
NM_000088.4(COL1A1):c.3139G>C (p.Ala1047Pro)	1277	COL1A1	Likely benign	544409032	RCV001065369;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48265959	48265959	17:g.48265959C>G	-
NM_000088.4(COL1A1):c.3135del (p.Gly1046fs)	1277	COL1A1	Pathogenic	1598288002	RCV001008788\|RCV001860595;	N	MedGen:CN517202\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48265963	48265963	17:g.48265963_48265963del	-
NM_000088.4(COL1A1):c.3126_3130dup (p.Pro1044fs)	1277	COL1A1	Pathogenic	-1	RCV002846292;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48265967	48265968	NC_000017.10:g.48265969_48265973dup	-
NM_000088.4(COL1A1):c.3128G>C (p.Gly1043Ala)	1277	COL1A1	Likely pathogenic	1906767501	RCV001253008;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48265970	48265970	17:g.48265970C>G	-
NM_000088.4(COL1A1):c.3124G>A (p.Ala1042Thr)	1277	COL1A1	Likely benign	746939680	RCV002149025;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48265974	48265974	48265974	-
NM_000088.4(COL1A1):c.3123C>T (p.Pro1041=)	1277	COL1A1	Benign/Likely benign	145608939	RCV000178513\|RCV000539797\|RCV001721123\|RCV002321706\|RCV002277403;	N	MedGen:CN169374\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:C3661900\|MedGen:CN230736\|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000, Orphanet:98249	17	48265975	48265975	17:g.48265975G>A	ClinGen:CA245642	CN169374 not specified;
NM_000088.4(COL1A1):c.3123del (p.Ala1042fs)	1277	COL1A1	Pathogenic	886039693	RCV000255369\|RCV001859490;	N	MedGen:CN517202\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48265975	48265975	17:g.48265975_48265975del	ClinGen:CA10588663	CN517202 not provided;
NM_000088.4(COL1A1):c.3122C>T (p.Pro1041Leu)	1277	COL1A1	Uncertain significance	1906769403	RCV001330768\|RCV001859280;	N	MONDO:MONDO:0007244,MedGen:C0020497,OMIM:114000, Orphanet:1310\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48265976	48265976	48265976	-
NM_000088.4(COL1A1):c.3118G>A (p.Gly1040Ser)	1277	COL1A1	Pathogenic	72653178	RCV000018871\|RCV000518360\|RCV001245193;	N	MONDO:MONDO:0009804,MedGen:C0268362,OMIM:259420, Orphanet:216812, Orphanet:666\|MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48265980	48265980	17:g.48265980C>T	ClinGen:CA257899,OMIM:120150.0048	CN517202 not provided;
NM_000088.4(COL1A1):c.3114dup (p.Thr1039fs)	1277	COL1A1	Pathogenic	1598288070	RCV000820796;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48265983	48265984	17:g.48265983_48265984insC	-
NM_000088.4(COL1A1):c.3107G>A (p.Arg1036His)	1277	COL1A1	Uncertain significance	-1	RCV002927246;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48265991	48265991	NC_000017.10:g.48265991C>T	-
NM_000088.4(COL1A1):c.3106C>T (p.Arg1036Cys)	1277	COL1A1	Conflicting interpretations of pathogenicity	72653177	RCV000435717\|RCV001865338;	N	MedGen:CN517202\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48265992	48265992	17:g.48265992G>A	ClinGen:CA8644558	CN517202 not provided;
NM_000088.4(COL1A1):c.3102T>C (p.Gly1034=)	1277	COL1A1	Likely benign	147743501	RCV000604486\|RCV000631509\|RCV000680478\|RCV001310366\|RCV002279430\|RCV002325177\|RCV002279429;	N	MedGen:CN169374\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MONDO:MONDO:0003900,MedGen:C0009782\|MedGen:C3661900\|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000, Orphanet:98249\|MedGen:CN230736\|MONDO:MONDO:0019019,MeSH:D0	17	48265996	48265996	17:g.48265996A>G	ClinGen:CA8644559	C0009782 Connective tissue disorder;
NM_000088.4(COL1A1):c.3100-1G>A	1277	COL1A1	Pathogenic	1906773628	RCV001225334;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48265999	48265999	17:g.48265999C>T	-
NM_000088.4(COL1A1):c.3100-5G>A	1277	COL1A1	Likely benign	751822769	RCV000876691\|RCV001443939;	N	MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48266003	48266003	17:g.48266003C>T	-
NM_000088.4(COL1A1):c.3100-6C>T	1277	COL1A1	Conflicting interpretations of pathogenicity	377123276	RCV000598119\|RCV001084380;	N	MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48266004	48266004	17:g.48266004G>A	ClinGen:CA8644562	CN169374 not specified;
NM_000088.4(COL1A1):c.3100-6C>A	1277	COL1A1	Uncertain significance	-1	RCV003333427;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48266004	48266004		-
NM_000088.4(COL1A1):c.3100-8C>A	1277	COL1A1	Likely benign	-1	RCV003081884;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48266006	48266006	NC_000017.10:g.48266006G>T	-
NM_000088.4(COL1A1):c.3100-10T>A	1277	COL1A1	Uncertain significance	1598288122	RCV000800268;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48266008	48266008	17:g.48266008A>T	-
NM_000088.4(COL1A1):c.3100-14G>C	1277	COL1A1	Likely benign	370574815	RCV002180867;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48266012	48266012	48266012	-
NM_000088.4(COL1A1):c.3100-15T>C	1277	COL1A1	Likely benign	2144546220	RCV002076500;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48266013	48266013	48266013	-
NM_000088.4(COL1A1):c.3100-18C>A	1277	COL1A1	Likely benign	1906776879	RCV002092978;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48266016	48266016	48266016	-
NM_000088.4(COL1A1):c.3099+17C>T	1277	COL1A1	Likely benign	-1	RCV003011334;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48266086	48266086	NC_000017.10:g.48266086G>A	-
NM_000088.4(COL1A1):c.3099+12A>G	1277	COL1A1	Likely benign	-1	RCV003075855;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48266091	48266091	NC_000017.10:g.48266091T>C	-
NM_000088.4(COL1A1):c.3099+1G>A	1277	COL1A1	Pathogenic/Likely pathogenic	1555572316	RCV000598951\|RCV001260291\|RCV001860228;	N	MedGen:CN517202\|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48266102	48266102	17:g.48266102C>T	ClinGen:CA400202958	CN517202 not provided;
NM_000088.4(COL1A1):c.3094G>A (p.Ala1032Thr)	1277	COL1A1	Uncertain significance	374095521	RCV000497329\|RCV000631498\|RCV002279279;	N	MedGen:CN517202\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000, Orphanet:98249	17	48266108	48266108	17:g.48266108C>T	ClinGen:CA8644580	CN169374 not specified;
NM_000088.4(COL1A1):c.3093C>T (p.Gly1031=)	1277	COL1A1	Likely benign	753135498	RCV001467564\|RCV001531274\|RCV002322515;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:C3661900\|MedGen:CN230736	17	48266109	48266109	48266109	-
NC_000017.10:g.(?_48266109)_(48266435_?)del	1277	COL1A1	Pathogenic	-1	RCV001946809;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48266109	48266435	-1	-
NM_000088.4(COL1A1):c.3077G>A (p.Arg1026Gln)	1277	COL1A1	Uncertain significance	-1	RCV002948138\|RCV003274091;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN230736	17	48266125	48266125	NC_000017.10:g.48266125C>T	-
NM_000088.4(COL1A1):c.3076C>T (p.Arg1026Ter)	1277	COL1A1	Pathogenic	72653173	RCV000029575\|RCV000498745\|RCV000551341\|RCV001535575\|RCV001814012\|RCV002504826;	N	MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MONDO:MONDO:0007244,MedGen:C0020497,OMIM:114000, Orphanet:1310; MONDO:MONDO:0007525,Me	17	48266126	48266126	17:g.48266126G>A	ClinGen:CA260309	CN517202 not provided;
NM_000088.4(COL1A1):c.3061_3068del (p.Glu1021fs)	1277	COL1A1	Pathogenic	2144546781	RCV001386908;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48266134	48266141	48266133	-
NM_000088.4(COL1A1):c.3065G>T (p.Gly1022Val)	1277	COL1A1	Pathogenic	67771061	RCV000478094\|RCV002279243\|RCV003333748;	N	MedGen:CN517202\|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48266137	48266137	NC_000017.10:g.48266137C>A	ClinGen:CA16620475	CN517202 not provided;
NM_000088.4(COL1A1):c.3065G>C (p.Gly1022Ala)	1277	COL1A1	Pathogenic	67771061	RCV000597715\|RCV001062270;	N	MedGen:CN517202\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48266137	48266137	17:g.48266137C>G	ClinGen:CA291543082	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.3061G>T (p.Glu1021Ter)	1277	COL1A1	Pathogenic	139593707	RCV000598016\|RCV001215501;	N	MedGen:CN517202\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48266141	48266141	17:g.48266141C>A	ClinGen:CA400203279	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.3061G>C (p.Glu1021Gln)	1277	COL1A1	Conflicting interpretations of pathogenicity	139593707	RCV000631488\|RCV001566557\|RCV002279451\|RCV002279450\|RCV002448936\|RCV003330848;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:C3661900\|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000, Orphanet:98249\|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MedGen:CN230736\|MON	17	48266141	48266141	17:g.48266141C>G	ClinGen:CA8644586	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.3061G>A (p.Glu1021Lys)	1277	COL1A1	Likely benign	-1	RCV002885660;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48266141	48266141	NC_000017.10:g.48266141C>T	-
NM_000088.4(COL1A1):c.3060C>T (p.Ala1020=)	1277	COL1A1	Conflicting interpretations of pathogenicity	751239116	RCV000178478\|RCV000534294\|RCV002444712;	N	MedGen:CN517202\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN230736	17	48266142	48266142	17:g.48266142G>A	ClinGen:CA245590	CN169374 not specified;
NM_000088.4(COL1A1):c.3055G>T (p.Gly1019Cys)	1277	COL1A1	Pathogenic	1598288342	RCV000853622;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48266147	48266147	17:g.48266147C>A	-
NM_000088.4(COL1A1):c.3051del (p.Pro1018fs)	1277	COL1A1	Pathogenic	2144546898	RCV001383105;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48266151	48266151	48266150	-
NM_000088.4(COL1A1):c.3046-2A>T	1277	COL1A1	Pathogenic	72653171	RCV000793255;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48266158	48266158	17:g.48266158T>A	-
NM_000088.4(COL1A1):c.3046-20CT[10]	1277	COL1A1	Benign/Likely benign	138425306	RCV000514911\|RCV000178477\|RCV001079122\|RCV002279332\|RCV002279331;	N	MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000, Orphanet:98249\|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666	17	48266160	48266161	17:g.48266160_48266161insAGAG	ClinGen:CA202896	CN517202 not provided;
NM_000088.4(COL1A1):c.3046-20CT[9]	1277	COL1A1	Benign	138425306	RCV000550413;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48266160	48266161	NC_000017.10:g.48266162GA[9]	ClinGen:CA8644593	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.3046-20CT[7]	1277	COL1A1	Benign	138425306	RCV000870503\|RCV001579895\|RCV001811526;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN169374\|MedGen:C3661900	17	48266161	48266162	17:g.48266161_48266162del	-
NM_000088.4(COL1A1):c.3045+15G>A	1277	COL1A1	Likely benign	2144547381	RCV002142314;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48266249	48266249	48266249	-
NM_000088.4(COL1A1):c.3045+11C>T	1277	COL1A1	Conflicting interpretations of pathogenicity	201349683	RCV001198572\|RCV002559266;	N	MONDO:MONDO:0008148,MedGen:C0268363,OMIM:166220, Orphanet:216820, Orphanet:666\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48266253	48266253	17:g.48266253G>A	-
NM_000088.4(COL1A1):c.3045+3G>A	1277	COL1A1	Conflicting interpretations of pathogenicity	41316695	RCV000537927\|RCV001696985\|RCV002448622\|RCV003230530;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:C3661900\|MedGen:CN230736\|MedGen:CN169374	17	48266261	48266261	17:g.48266261C>T	ClinGen:CA8644613	CN169374 not specified;
NM_000088.4(COL1A1):c.3045+1G>A	1277	COL1A1	Pathogenic	1114167382	RCV000490672\|RCV002291645;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN517202	17	48266263	48266263	NC_000017.10:g.48266263C>T	ClinGen:CA400203553	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.3045+1del	1277	COL1A1	Pathogenic	2144547449	RCV001884687;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48266263	48266263	48266262	-
NM_000088.4(COL1A1):c.3040C>T (p.Arg1014Cys)	1277	COL1A1	Pathogenic	72653170	RCV000018889\|RCV000420639\|RCV000685879\|RCV000763407;	N	MONDO:MONDO:0007244,MedGen:C0020497,OMIM:114000, Orphanet:1310\|MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|7 conditions	17	48266269	48266269	17:g.48266269G>A	ClinGen:CA341441,OMIM:120150.0063	C0020497 114000 Infantile cortical hyperostosis;
NM_000088.4(COL1A1):c.3026del (p.Pro1009fs)	1277	COL1A1	Pathogenic	1114167396	RCV000490688;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48266283	48266283	NC_000017.10:g.48266287del	ClinGen:CA645294107	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.3023C>T (p.Pro1008Leu)	1277	COL1A1	Conflicting interpretations of pathogenicity	1484351533	RCV001985041\|RCV002265049;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:C3661900	17	48266286	48266286	48266286	-
NM_000088.4(COL1A1):c.3023C>G (p.Pro1008Arg)	1277	COL1A1	Uncertain significance	1484351533	RCV001986142;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48266286	48266286	48266286	-
NM_000088.4(COL1A1):c.3022C>T (p.Pro1008Ser)	1277	COL1A1	Conflicting interpretations of pathogenicity	1199013401	RCV001773212\|RCV002540579;	N	MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48266287	48266287	48266287	-
NM_000088.4(COL1A1):c.3020del (p.Gly1007fs)	1277	COL1A1	Pathogenic	2144547600	RCV001382313;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48266289	48266289	48266288	-
NM_000088.4(COL1A1):c.3016G>T (p.Ala1006Ser)	1277	COL1A1	Likely benign	-1	RCV002591395;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48266293	48266293	NC_000017.10:g.48266293C>A	-
NM_000088.4(COL1A1):c.3014T>A (p.Leu1005Ter)	1277	COL1A1	Pathogenic	2144547622	RCV001795867\|RCV001868894;	N	MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48266295	48266295	48266295	-
NM_000088.4(COL1A1):c.3013T>C (p.Leu1005=)	1277	COL1A1	Likely benign	772060459	RCV001569419\|RCV002440808\|RCV002072195;	N	MedGen:C3661900\|MedGen:CN230736\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48266296	48266296	48266296	-
NM_000088.4(COL1A1):c.3008dup (p.Gly1004fs)	1277	COL1A1	Pathogenic	72653168	RCV001948473;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48266300	48266301	48266300	-
NM_000088.4(COL1A1):c.3009del (p.Gly1004fs)	1277	COL1A1	Pathogenic/Likely pathogenic	2144547648	RCV002276920\|RCV001892165;	N	MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48266300	48266300	48266299	-
NM_000088.4(COL1A1):c.3008del (p.Pro1003fs)	1277	COL1A1	Pathogenic	72653168	RCV000693485\|RCV001008789\|RCV002279489;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN517202\|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666	17	48266301	48266301	NC_000017.10:g.48266306del	-	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.3002del (p.Gly1001fs)	1277	COL1A1	Pathogenic/Likely pathogenic	1598288593	RCV000799850\|RCV001824161;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MONDO:MONDO:0007525,MedGen:C4551623,OMIM:130060, Orphanet:1899, Orphanet:99875, Orphanet:99876	17	48266307	48266307	17:g.48266307_48266307del	-
NM_000088.4(COL1A1):c.3000G>C (p.Met1000Ile)	1277	COL1A1	Conflicting interpretations of pathogenicity	769158560	RCV002124661\|RCV002434508;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN230736	17	48266309	48266309	48266309	-
NM_000088.4(COL1A1):c.2998A>G (p.Met1000Val)	1277	COL1A1	Likely benign	777265470	RCV000680479\|RCV000959357;	N	MONDO:MONDO:0003900,MedGen:C0009782\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48266311	48266311	NC_000017.10:g.48266311T>C	-	C0009782 Connective tissue disorder;
NM_000088.4(COL1A1):c.2990del (p.Pro997fs)	1277	COL1A1	Pathogenic	1598288648	RCV000989943\|RCV003396570;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|	17	48266319	48266319	17:g.48266319_48266319del	-
NM_000088.4(COL1A1):c.2985del (p.Pro997fs)	1277	COL1A1	Pathogenic	1906818829	RCV001215494;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48266324	48266324	17:g.48266324_48266324del	-
NM_000088.4(COL1A1):c.2982T>C (p.Arg994=)	1277	COL1A1	Likely benign	1598288661	RCV001471149;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48266327	48266327	17:g.48266327A>G	-
NM_000088.4(COL1A1):c.2981G>A (p.Arg994His)	1277	COL1A1	Uncertain significance	548928043	RCV001348422;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48266328	48266328	48266328	-
NM_000088.4(COL1A1):c.2974G>A (p.Gly992Ser)	1277	COL1A1	Likely pathogenic	-1	RCV002866798;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48266335	48266335	NC_000017.10:g.48266335C>T	-
NM_000088.4(COL1A1):c.2973T>C (p.Ser991=)	1277	COL1A1	Benign/Likely benign	568904847	RCV000871447\|RCV001399218\|RCV002279584\|RCV002434119;	N	MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000, Orphanet:98249\|MedGen:CN230736	17	48266336	48266336	17:g.48266336A>G	-
NM_000088.4(COL1A1):c.2953C>A (p.Gln985Lys)	1277	COL1A1	Uncertain significance	-1	RCV002297961;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48266356	48266356	48266356	-
NM_000088.4(COL1A1):c.2949C>T (p.Gly983=)	1277	COL1A1	Likely benign	-1	RCV002440252\|RCV003102907;	N	MedGen:CN230736\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48266360	48266360		-
NM_000088.4(COL1A1):c.2947G>A (p.Gly983Ser)	1277	COL1A1	Likely pathogenic	2144548099	RCV002010948;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48266362	48266362	48266362	-
NM_000088.4(COL1A1):c.2945C>T (p.Pro982Leu)	1277	COL1A1	Uncertain significance	940298764	RCV001202307;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48266364	48266364	17:g.48266364G>A	-
NM_000088.4(COL1A1):c.2944C>A (p.Pro982Thr)	1277	COL1A1	Conflicting interpretations of pathogenicity	141117382	RCV000429625\|RCV000631461\|RCV002436327;	N	MedGen:CN517202\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN230736	17	48266365	48266365	17:g.48266365G>T	ClinGen:CA8644629	CN169374 not specified;
NM_000088.4(COL1A1):c.2938-1G>A	1277	COL1A1	Likely pathogenic	-1	RCV002472335;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48266372	48266372	NC_000017.10:g.48266372C>T	-
NM_000088.4(COL1A1):c.2938-1G>C	1277	COL1A1	Pathogenic	-1	RCV002853476;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48266372	48266372	NC_000017.10:g.48266372C>G	-
NM_000088.4(COL1A1):c.2938-7C>T	1277	COL1A1	Likely benign	757272365	RCV001463947;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48266378	48266378	48266378	-
NM_000088.4(COL1A1):c.2938-13_2938-10del	1277	COL1A1	Likely benign	-1	RCV003117169;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48266381	48266384	NC_000017.10:g.48266381AAGA[1]	-
NM_000088.4(COL1A1):c.2937+8C>T	1277	COL1A1	Likely benign	1266313465	RCV001437215;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48266521	48266521	17:g.48266521G>A	-
NM_000088.4(COL1A1):c.2935del (p.Ser979fs)	1277	COL1A1	Pathogenic	1906842230	RCV001209715;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48266531	48266531	17:g.48266531_48266531del	-
NM_000088.4(COL1A1):c.2934del (p.Ser979fs)	1277	COL1A1	Pathogenic	1114167395	RCV000490661;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48266532	48266532	NC_000017.10:g.48266535del	ClinGen:CA645294101	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.2933C>T (p.Pro978Leu)	1277	COL1A1	Uncertain significance	2144548775	RCV002014914;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48266533	48266533	48266533	-
NM_000088.4(COL1A1):c.2932C>T (p.Pro978Ser)	1277	COL1A1	Conflicting interpretations of pathogenicity	193922153	RCV000537025\|RCV000607797\|RCV000608881\|RCV000680480\|RCV001125487\|RCV001125486\|RCV001125488\|RCV001535421\|RCV002276575\|RCV002433474;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MedGen:CN169374\|MONDO:MONDO:0003900,MedGen:C0009782\|MONDO:MONDO:0007244,MedGen:C0020497,OMIM:114000, Orphanet:13	17	48266534	48266534	17:g.48266534G>A	ClinGen:CA260305	C0009782 Connective tissue disorder;
NM_000088.4(COL1A1):c.2931C>A (p.Gly977=)	1277	COL1A1	Likely benign	374615784	RCV001416258\|RCV002438967;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN230736	17	48266535	48266535	48266535	-
NM_000088.4(COL1A1):c.2910_2929dup (p.Gly977fs)	1277	COL1A1	Pathogenic	-1	RCV003041109;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48266536	48266537	NC_000017.10:g.48266538_48266557dup	-
NM_000088.4(COL1A1):c.2929G>A (p.Gly977Ser)	1277	COL1A1	Likely pathogenic	-1	RCV003039288;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48266537	48266537	NC_000017.10:g.48266537C>T	-
NM_000088.4(COL1A1):c.2928del (p.Gly977fs)	1277	COL1A1	Pathogenic	1906843530	RCV001056138;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48266538	48266538	17:g.48266538_48266538del	-
NM_000088.4(COL1A1):c.2925T>C (p.Leu975=)	1277	COL1A1	Likely benign	2144548840	RCV002078796;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48266541	48266541	48266541	-
NM_000088.4(COL1A1):c.2922T>C (p.Gly974=)	1277	COL1A1	Likely benign	-1	RCV002867790;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48266544	48266544		-
NM_000088.4(COL1A1):c.2915del (p.Phe972fs)	1277	COL1A1	Pathogenic	1598288967	RCV000989944;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48266551	48266551	17:g.48266551_48266551del	-
NM_000088.4(COL1A1):c.2908_2911del (p.Arg970fs)	1277	COL1A1	Pathogenic	1555572401	RCV000531574\|RCV002250652;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MONDO:MONDO:0009804,MedGen:C0268362,OMIM:259420, Orphanet:216812, Orphanet:666	17	48266555	48266558	17:g.48266555_48266558del	ClinGen:CA658656703	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.2910_2911del (p.Gly971fs)	1277	COL1A1	Pathogenic	1555572401	RCV001927220;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48266555	48266556	48266554	-
NM_000088.4(COL1A1):c.2910A>G (p.Arg970=)	1277	COL1A1	Likely benign	763850566	RCV001473729\|RCV002439131;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN230736	17	48266556	48266556	48266556	-
NM_000088.4(COL1A1):c.2907_2908delinsAT (p.Arg970Ter)	1277	COL1A1	Pathogenic	2144548967	RCV001383242;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48266558	48266559	48266558	-
NM_000088.4(COL1A1):c.2900del (p.Arg967fs)	1277	COL1A1	Pathogenic	1906846472	RCV001214209;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48266566	48266566	17:g.48266566_48266566del	-
NM_000088.4(COL1A1):c.2892T>G (p.Pro964=)	1277	COL1A1	Likely benign	753585193	RCV001310367\|RCV002070134;	N	MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48266574	48266574	48266574	-
NM_000088.4(COL1A1):c.2888_2889del (p.Leu963fs)	1277	COL1A1	Pathogenic	1906847588	RCV001035902;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48266577	48266578	17:g.48266577_48266578del	-
NM_000088.4(COL1A1):c.2883C>T (p.Val961=)	1277	COL1A1	Likely benign	761548060	RCV000892117\|RCV002065580;	N	MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48266583	48266583	17:g.48266583G>A	-
NM_000088.4(COL1A1):c.2881del (p.Val961fs)	1277	COL1A1	Pathogenic	1114167381	RCV000490741;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48266585	48266585	NC_000017.10:g.48266586del	ClinGen:CA645294102	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.2877del (p.Val960fs)	1277	COL1A1	Pathogenic	-1	RCV002617202;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48266589	48266589	NC_000017.10:g.48266589del	-
NM_000088.4(COL1A1):c.2866G>A (p.Gly956Arg)	1277	COL1A1	Likely pathogenic	797045033	RCV000191071;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48266600	48266600	17:g.48266600C>T	ClinGen:CA281504	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.2855A>G (p.Gln952Arg)	1277	COL1A1	Uncertain significance	-1	RCV002611231;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48266611	48266611	NC_000017.10:g.48266611T>C	-
NM_000088.4(COL1A1):c.2845C>T (p.Pro949Ser)	1277	COL1A1	Likely benign	1434279534	RCV000687032\|RCV000844903;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MONDO:MONDO:0007525,MedGen:C4551623,OMIM:130060, Orphanet:1899, Orphanet:99875, Orphanet:99876; MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666	17	48266621	48266621	NC_000017.10:g.48266621G>A	-	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.2845C>G (p.Pro949Ala)	1277	COL1A1	Uncertain significance	-1	RCV003116554;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48266621	48266621	NC_000017.10:g.48266621G>C	-
NM_000088.4(COL1A1):c.2838T>G (p.Pro946=)	1277	COL1A1	Conflicting interpretations of pathogenicity	1555572418	RCV000710767\|RCV001081361\|RCV003160025;	N	MedGen:CN517202\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN230736	17	48266628	48266628	17:g.48266628A>C	ClinGen:CA500992037	CN169374 not specified;
NM_000088.4(COL1A1):c.2831delG	1277	COL1A1	Pathogenic	2144549369	RCV001836666\|RCV001869840;	N	MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48266635	48266635	48266634	-
NM_000088.4(COL1A1):c.2830-1G>A	1277	COL1A1	Pathogenic	111594467	RCV000700462\|RCV002279492;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666	17	48266637	48266637	17:g.48266637C>T	-	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.2830-3A>G	1277	COL1A1	Likely pathogenic	1906853874	RCV001218519;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48266639	48266639	17:g.48266639T>C	-
NM_000088.4(COL1A1):c.2830-17C>T	1277	COL1A1	Likely benign	755300568	RCV002102777;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48266653	48266653	48266653	-
NM_000088.4(COL1A1):c.2829+20T>C	1277	COL1A1	Likely benign	372169804	RCV000613232\|RCV002529686;	N	MedGen:CN169374\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48266718	48266718	17:g.48266718A>G	ClinGen:CA8644675	CN169374 not specified;
NM_000088.4(COL1A1):c.2829+15A>G	1277	COL1A1	Likely benign	2144549780	RCV002216099;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48266723	48266723	48266723	-
NM_000088.4(COL1A1):c.2829+8C>T	1277	COL1A1	Likely benign	-1	RCV003031882;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48266730	48266730	NC_000017.10:g.48266730G>A	-
NM_000088.4(COL1A1):c.2829+2dup	1277	COL1A1	Uncertain significance	2144549833	RCV002011212;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48266735	48266736	48266735	-
NM_000088.4(COL1A1):c.2829+1G>A	1277	COL1A1	Pathogenic	72653156	RCV001002497\|RCV001869431;	N	MedGen:CN169374\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48266737	48266737	17:g.48266737C>T	-
NM_000088.4(COL1A1):c.2829+1G>C	1277	COL1A1	Pathogenic	72653156	RCV001090960\|RCV002555943;	N	MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48266737	48266737	17:g.48266737C>G	-
NM_000088.4(COL1A1):c.2816del (p.Ala939fs)	1277	COL1A1	Pathogenic	-1	RCV003036110;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48266751	48266751	NC_000017.10:g.48266751del	-
NM_000088.4(COL1A1):c.2810C>A (p.Pro937His)	1277	COL1A1	Uncertain significance	1555572447	RCV000556428;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48266757	48266757	NC_000017.10:g.48266757G>T	ClinGen:CA400205482	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.2806T>C (p.Ser936Pro)	1277	COL1A1	Uncertain significance	1555572452	RCV000544055;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48266761	48266761	NC_000017.10:g.48266761A>G	ClinGen:CA400205507	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.2797G>A (p.Glu933Lys)	1277	COL1A1	Uncertain significance	1906865517	RCV001298132;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48266770	48266770	48266770	-
NM_000088.4(COL1A1):c.2793del (p.Gly932fs)	1277	COL1A1	Pathogenic	1906866028	RCV001253438;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48266774	48266774	17:g.48266774_48266774del	-
NM_000088.4(COL1A1):c.2781_2789dup (p.Pro930_Ala931insProGlyPro)	1277	COL1A1	Likely pathogenic	-1	RCV002861866;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48266777	48266778	NC_000017.10:g.48266780_48266788dup	-
NM_000088.3(COL1A1):c.2783_2788delinsTGGCG (p.Pro928fs)	1277	COL1A1	Pathogenic	1555572456	RCV000555528;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48266779	48266784	17:g.48266780_48266784del	ClinGen:CA658656704	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.2769TCCCCCTGG[3] (p.925PGP[3])	1277	COL1A1	Pathogenic	1555572458	RCV000543111;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48266780	48266781	NC_000017.10:g.48266784GGGGGACCA[3]	ClinGen:CA658656705	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.2784del (p.Gly929fs)	1277	COL1A1	Pathogenic	72653155	RCV000627425\|RCV000689473;	N	MedGen:CN517202\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48266783	48266783	NC_000017.10:g.48266783del	ClinGen:CA291543187	CN517202 not provided;
NM_000088.4(COL1A1):c.2783del (p.Pro928fs)	1277	COL1A1	Likely pathogenic	-1	RCV002472334;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48266784	48266784	NC_000017.10:g.48266788del	-
NM_000088.4(COL1A1):c.2779C>T (p.Pro927Ser)	1277	COL1A1	Benign	756537503	RCV001927461;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48266788	48266788	48266788	-
NM_000088.4(COL1A1):c.2775del (p.Gly926fs)	1277	COL1A1	Pathogenic	878853274	RCV000225140\|RCV001808584;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MONDO:MONDO:0008148,MedGen:C0268363,OMIM:166220, Orphanet:216820, Orphanet:666	17	48266792	48266792	17:g.48266792_48266792del	ClinGen:CA10581579	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.2774del (p.Pro925fs)	1277	COL1A1	Pathogenic	1906868595	RCV001236361;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48266793	48266793	17:g.48266793_48266793del	-
NM_000088.4(COL1A1):c.2773C>T (p.Pro925Ser)	1277	COL1A1	Uncertain significance	772929903	RCV000530582;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48266794	48266794	NC_000017.10:g.48266794G>A	ClinGen:CA400205639	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.2773C>G (p.Pro925Ala)	1277	COL1A1	Conflicting interpretations of pathogenicity	772929903	RCV001298078\|RCV001333193\|RCV001565654;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000\|MedGen:CN517202	17	48266794	48266794	48266794	-
NM_000088.4(COL1A1):c.2770C>T (p.Pro924Ser)	1277	COL1A1	Benign	-1	RCV002932387;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48266797	48266797	NC_000017.10:g.48266797G>A	-
NM_000088.4(COL1A1):c.2756del (p.Pro919fs)	1277	COL1A1	Pathogenic	2144550253	RCV001866076\|RCV001577855;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:C3661900	17	48266811	48266811	48266810	-
NM_000088.4(COL1A1):c.2746G>C (p.Ala916Pro)	1277	COL1A1	Uncertain significance	-1	RCV003121329;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48266821	48266821	NC_000017.10:g.48266821C>G	-
NM_000088.4(COL1A1):c.2717dup (p.Lys907fs)	1277	COL1A1	Pathogenic	1598289365	RCV000793975;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48266849	48266850	17:g.48266849_48266850insC	-
NM_000088.4(COL1A1):c.2716G>A (p.Gly906Ser)	1277	COL1A1	Likely benign	145446512	RCV000878257\|RCV001712188\|RCV002222183\|RCV002278654\|RCV002429352;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:C3661900\|\|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MedGen:CN230736	17	48266851	48266851	17:g.48266851C>T	ClinGen:CA8644695	CN169374 not specified;
NM_000088.4(COL1A1):c.2715C>T (p.Gly905=)	1277	COL1A1	Conflicting interpretations of pathogenicity	779337831	RCV000598433\|RCV001854047\|RCV002438537;	N	MedGen:CN517202\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN230736	17	48266852	48266852	17:g.48266852G>A	ClinGen:CA8644696	CN169374 not specified;
NM_000088.4(COL1A1):c.2705del (p.Gly902fs)	1277	COL1A1	Pathogenic	-1	RCV002881973;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48266862	48266862	NC_000017.10:g.48266863del	-
NM_000088.4(COL1A1):c.2704G>A (p.Gly902Ser)	1277	COL1A1	Pathogenic	1906874191	RCV001035598;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48266863	48266863	17:g.48266863C>T	-
NM_000088.4(COL1A1):c.2702C>T (p.Ala901Val)	1277	COL1A1	Likely benign	-1	RCV002659637;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48266865	48266865	NC_000017.10:g.48266865G>A	-
NM_000088.4(COL1A1):c.2685del (p.Gly896fs)	1277	COL1A1	Pathogenic/Likely pathogenic	193922151	RCV000029571\|RCV000518260\|RCV000804992;	N	MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MedGen:CN517202\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48266882	48266882	NC_000017.10:g.48266882del	ClinGen:CA260301	CN517202 not provided;
NM_000088.4(COL1A1):c.2684dup (p.Gly896fs)	1277	COL1A1	Pathogenic	72653151	RCV000698796;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48266882	48266883	NC_000017.10:g.48266887dup	-	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.2684del (p.Pro895fs)	1277	COL1A1	Pathogenic	72653151	RCV000554556;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48266883	48266883	NC_000017.10:g.48266887del	ClinGen:CA291543204	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.2684C>T (p.Pro895Leu)	1277	COL1A1	Uncertain significance	-1	RCV003093603;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48266883	48266883	NC_000017.10:g.48266883G>A	-
NM_000088.4(COL1A1):c.2678G>C (p.Gly893Ala)	1277	COL1A1	Pathogenic	2144550692	RCV001381575;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48266889	48266889	48266889	-
NM_000088.4(COL1A1):c.2673dup (p.Ala892fs)	1277	COL1A1	Pathogenic	1906878217	RCV001044134;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48266893	48266894	17:g.48266893_48266894insA	-
NM_000088.4(COL1A1):c.2668-1G>A	1277	COL1A1	Pathogenic	1114167394	RCV000490735;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48266900	48266900	NC_000017.10:g.48266900C>T	ClinGen:CA400206119	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.2668-1G>T	1277	COL1A1	Pathogenic	1114167394	RCV001879067;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48266900	48266900	48266900	-
NM_000088.4(COL1A1):c.2668-12A>G	1277	COL1A1	Benign/Likely benign	200355573	RCV000605681\|RCV000710766\|RCV002065439;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48266911	48266911	17:g.48266911T>C	ClinGen:CA8644700	CN169374 not specified;
NC_000017.10:g.(?_48267020)_(48278874_?)dup	1277	COL1A1	Pathogenic	-1	RCV001975238;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48267020	48278874	-1	-
NM_000088.4(COL1A1):c.2667+9C>T	1277	COL1A1	Likely benign	372981012	RCV001461347;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48267031	48267031	17:g.48267031G>A	-
NM_000088.4(COL1A1):c.2667+3_2667+6del	1277	COL1A1	Pathogenic	1114167393	RCV000490691;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48267034	48267037	NC_000017.10:g.48267036_48267039del	ClinGen:CA645294103	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.2667+5G>A	1277	COL1A1	Uncertain significance	-1	RCV003152931;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48267035	48267035		-
NM_000088.4(COL1A1):c.2667+1_2667+2del	1277	COL1A1	Likely pathogenic	2144551340	RCV002021934;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48267038	48267039	48267037	-
NM_000088.4(COL1A1):c.2667+1G>A	1277	COL1A1	Pathogenic/Likely pathogenic	72653150	RCV000805862\|RCV003456436;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:C3661900	17	48267039	48267039	17:g.48267039C>T	-
NM_000088.4(COL1A1):c.2667+1G>T	1277	COL1A1	Pathogenic	72653150	RCV001941735;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48267039	48267039	48267039	-
NM_000088.4(COL1A1):c.2645G>A (p.Arg882Gln)	1277	COL1A1	Uncertain significance	754077452	RCV001295018;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48267062	48267062	48267062	-
NM_000088.4(COL1A1):c.2644C>T (p.Arg882Ter)	1277	COL1A1	Pathogenic	72653147	RCV000542101\|RCV000578858\|RCV001535522\|RCV002279330;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:C3661900\|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666; MONDO:MONDO:0007525,MedGen:C4551623,OMIM:130060, Orphanet:1899, Orphanet:99875,Orphane	17	48267063	48267063	NC_000017.10:g.48267063G>A	ClinGen:CA291543234	CN517202 not provided;
NM_000088.4(COL1A1):c.2641G>A (p.Gly881Ser)	1277	COL1A1	Pathogenic	765659555	RCV000495593;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48267066	48267066	NC_000017.10:g.48267066C>T	ClinGen:CA8644716	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.2629C>T (p.Pro877Ser)	1277	COL1A1	Uncertain significance	2144551585	RCV002029795;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48267078	48267078	48267078	-
NM_000088.4(COL1A1):c.2619T>C (p.Ala873=)	1277	COL1A1	Likely benign	1321978569	RCV001490510;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48267088	48267088	48267088	-
NM_000088.4(COL1A1):c.2617G>A (p.Ala873Thr)	1277	COL1A1	Benign	-1	RCV002740687;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48267090	48267090	NC_000017.10:g.48267090C>T	-
NM_000088.4(COL1A1):c.2614-2A>G	1277	COL1A1	Pathogenic	2144551661	RCV001962897;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48267095	48267095	48267095	-
NM_000088.4(COL1A1):c.2614-20C>G	1277	COL1A1	Likely benign	-1	RCV002866632;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48267113	48267113	NC_000017.10:g.48267113G>C	-
NM_000088.4(COL1A1):c.2613+17T>G	1277	COL1A1	Likely benign	-1	RCV002805930;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48267203	48267203	NC_000017.10:g.48267203A>C	-
NM_000088.4(COL1A1):c.2608C>G (p.Pro870Ala)	1277	COL1A1	Uncertain significance	771918127	RCV001909153\|RCV002265043;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:C3661900	17	48267225	48267225	48267225	-
NM_000088.4(COL1A1):c.2602G>A (p.Ala868Thr)	1277	COL1A1	Conflicting interpretations of pathogenicity	779846520	RCV000525106\|RCV002438296\|RCV002497061\|RCV003319367;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN230736\|8 conditions\|MedGen:C3661900	17	48267231	48267231	17:g.48267231C>T	ClinGen:CA8644745	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.2601C>T (p.Ser867=)	1277	COL1A1	Likely benign	747037929	RCV000631501;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48267232	48267232	17:g.48267232G>A	ClinGen:CA8644746	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.2598C>G (p.Gly866=)	1277	COL1A1	Likely benign	1388778878	RCV002124543;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48267235	48267235	48267235	-
NM_000088.4(COL1A1):c.2596G>A (p.Gly866Ser)	1277	COL1A1	Pathogenic	67445413	RCV000490749\|RCV001213033\|RCV001577310\|RCV003128405;	N	MONDO:MONDO:0009804,MedGen:C0268362,OMIM:259420, Orphanet:216812, Orphanet:666\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:C3661900\|	17	48267237	48267237	NC_000017.10:g.48267237C>T	ClinGen:CA291543260	C0268362 259420 Osteogenesis imperfecta type III;
NM_000088.4(COL1A1):c.2595C>G (p.Arg865=)	1277	COL1A1	Likely benign	117672175	RCV000553711;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48267238	48267238	17:g.48267238G>C	ClinGen:CA291543263	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.2594G>A (p.Arg865His)	1277	COL1A1	Conflicting interpretations of pathogenicity	193922150	RCV000029569\|RCV001247065\|RCV003137543;	N	MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MONDO:MONDO:0007525,MedGen:C4551623,OMIM:130060, Orphanet:1899, Orphanet:99875, Orphanet:99876	17	48267239	48267239	17:g.48267239C>T	ClinGen:CA260298	C0029434 Osteogenesis imperfecta;
NM_000088.4(COL1A1):c.2586del (p.Gly863fs)	1277	COL1A1	Likely pathogenic	1598289920	RCV000786926;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48267247	48267247	17:g.48267247_48267247del	-
NM_000088.4(COL1A1):c.2585_2586del (p.Lys862fs)	1277	COL1A1	Pathogenic	1598289920	RCV001384849;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48267247	48267248	48267246	-
NM_000088.4(COL1A1):c.2584A>T (p.Lys862Ter)	1277	COL1A1	Pathogenic	2144552243	RCV001388491;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48267249	48267249	48267249	-
NM_000088.4(COL1A1):c.2573C>G (p.Ala858Gly)	1277	COL1A1	Uncertain significance	550053089	RCV000541224;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48267260	48267260	17:g.48267260G>C	ClinGen:CA8644748	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.2572G>A (p.Ala858Thr)	1277	COL1A1	Uncertain significance	773428245	RCV001337402;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48267261	48267261	48267261	-
NM_000088.4(COL1A1):c.2570G>A (p.Gly857Asp)	1277	COL1A1	Likely pathogenic	-1	RCV002843653;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48267263	48267263	NC_000017.10:g.48267263C>T	-
NM_000088.4(COL1A1):c.2569G>T (p.Gly857Cys)	1277	COL1A1	Pathogenic/Likely pathogenic	72653141	RCV001260270\|RCV002471036;	N	MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48267264	48267264	17:g.48267264C>A	-
NM_000088.4(COL1A1):c.2562T>C (p.Gly854=)	1277	COL1A1	Likely benign	763214118	RCV002125449;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48267271	48267271	48267271	-
NM_000088.4(COL1A1):c.2560G>C (p.Gly854Arg)	1277	COL1A1	Pathogenic	72653140	RCV000705317;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48267273	48267273	NC_000017.10:g.48267273C>G	-	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.2560G>A (p.Gly854Ser)	1277	COL1A1	Pathogenic	-1	RCV003041315;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48267273	48267273	NC_000017.10:g.48267273C>T	-
NM_000088.4(COL1A1):c.2560-9C>G	1277	COL1A1	Likely benign	-1	RCV003092903;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48267282	48267282	NC_000017.10:g.48267282G>C	-
NM_000088.4(COL1A1):c.2560-18C>G	1277	COL1A1	Benign	2075559	RCV000250190\|RCV002057297;	N	MedGen:CN169374\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48267291	48267291	17:g.48267291G>C	ClinGen:CA8644754	CN169374 not specified;
NM_000088.4(COL1A1):c.2560-19_2560-18delinsTG	1277	COL1A1	Uncertain significance	-1	RCV003087461;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48267291	48267292	NC_000017.10:g.48267291_48267292delinsCA	-
NM_000088.4(COL1A1):c.2559+17T>G	1277	COL1A1	Likely benign	543348331	RCV002120231;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48267345	48267345	48267345	-
NM_000088.4(COL1A1):c.2559+5G>A	1277	COL1A1	Uncertain significance	72653138	RCV001872894;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48267357	48267357	48267357	-
NM_000088.4(COL1A1):c.2559+5G>T	1277	COL1A1	Likely pathogenic	-1	RCV003126321;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48267357	48267357	NC_000017.10:g.48267357C>A	-
NM_000088.4(COL1A1):c.2559+1G>A	1277	COL1A1	Pathogenic	-1	RCV003041316\|RCV003332400;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN517202	17	48267361	48267361	NC_000017.10:g.48267361C>T	-
NM_000088.4(COL1A1):c.2559T>A (p.Ile853=)	1277	COL1A1	Conflicting interpretations of pathogenicity	764910205	RCV000442408\|RCV002525486;	N	MedGen:CN169374\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48267362	48267362	17:g.48267362A>T	ClinGen:CA8644775	CN169374 not specified;
NM_000088.4(COL1A1):c.2558T>C (p.Ile853Thr)	1277	COL1A1	Uncertain significance	2144552753	RCV001930017;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48267363	48267363	48267363	-
NM_000088.4(COL1A1):c.2554C>T (p.Pro852Ser)	1277	COL1A1	Likely benign	-1	RCV002574440;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48267367	48267367	NC_000017.10:g.48267367G>A	-
NM_000088.4(COL1A1):c.2552G>C (p.Gly851Ala)	1277	COL1A1	Pathogenic	72653137	RCV001939495;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48267369	48267369	48267369	-
NM_000088.4(COL1A1):c.2550del (p.Gly851fs)	1277	COL1A1	Pathogenic	1114167380	RCV000490694\|RCV002266968;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN517202	17	48267371	48267371	17:g.48267371_48267371del	ClinGen:CA645294104	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.2549del (p.Pro850fs)	1277	COL1A1	Pathogenic	1114167379	RCV000490651;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48267372	48267372	NC_000017.10:g.48267376del	ClinGen:CA645294105	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.2544del (p.Pro850fs)	1277	COL1A1	Pathogenic	-1	RCV003019373;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48267377	48267377	NC_000017.10:g.48267377del	-
NC_000017.10:g.(?_48267381)_(48276680_?)dup	1277	COL1A1	Pathogenic	-1	RCV001949695;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48267381	48276680	-1	-
NM_000088.4(COL1A1):c.2539G>A (p.Ala847Thr)	1277	COL1A1	Likely benign	369455732	RCV001460387;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48267382	48267382	NC_000017.10:g.48267382C>T	ClinGen:CA8644776	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.2538C>T (p.Pro846=)	1277	COL1A1	Likely benign	758123056	RCV002186640;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48267383	48267383	48267383	-
NM_000088.4(COL1A1):c.2534G>C (p.Gly845Ala)	1277	COL1A1	Pathogenic	1555572640	RCV000631463;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48267387	48267387	17:g.48267387C>G	ClinGen:CA400207574	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.2533G>A (p.Gly845Arg)	1277	COL1A1	Pathogenic	72653136	RCV000018832\|RCV000991594\|RCV001236925;	N	MONDO:MONDO:0008147,MedGen:C0268358,OMIM:166210, Orphanet:216804\|MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48267388	48267388	17:g.48267388C>T	ClinGen:CA257827,OMIM:120150.0008	C0268360 166210 Osteogenesis imperfecta, recessive perinatal lethal;
NM_000088.4(COL1A1):c.2532C>T (p.Ala844=)	1277	COL1A1	Likely benign	374158703	RCV000877039\|RCV001462571\|RCV002431779;	N	MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN230736	17	48267389	48267389	17:g.48267389G>A	ClinGen:CA8644778	CN169374 not specified;
NM_000088.4(COL1A1):c.2532C>A (p.Ala844=)	1277	COL1A1	Likely benign	-1	RCV002705994;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48267389	48267389		-
NM_000088.4(COL1A1):c.2530dup (p.Ala844fs)	1277	COL1A1	Pathogenic	2144552926	RCV001921667;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48267390	48267391	48267390	-
NM_000088.4(COL1A1):c.2530G>T (p.Ala844Ser)	1277	COL1A1	Likely benign	-1	RCV003073711;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48267391	48267391	NC_000017.10:g.48267391C>A	-
NM_000088.4(COL1A1):c.2525del (p.Gly842fs)	1277	COL1A1	Pathogenic	1114167392	RCV000490725;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48267396	48267396	17:g.48267396_48267396del	ClinGen:CA645294106	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.2523del (p.Gly842fs)	1277	COL1A1	Pathogenic	72653133	RCV000789028\|RCV001066920\|RCV003411738;	N	MONDO:MONDO:0008148,MedGen:C0268363,OMIM:166220, Orphanet:216820, Orphanet:666\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|	17	48267398	48267398	17:g.48267398_48267398del	-
NM_000088.4(COL1A1):c.2522del (p.Pro841fs)	1277	COL1A1	Pathogenic	1906936483	RCV001237216;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48267399	48267399	17:g.48267399_48267399del	-
NM_000088.4(COL1A1):c.2521C>T (p.Pro841Ser)	1277	COL1A1	Likely benign	-1	RCV002647961;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48267400	48267400	NC_000017.10:g.48267400G>A	-
NM_000088.4(COL1A1):c.2519C>T (p.Pro840Leu)	1277	COL1A1	Conflicting interpretations of pathogenicity	748149807	RCV001665197\|RCV001873827;	N	MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48267402	48267402	48267402	-
NM_000088.4(COL1A1):c.2508C>T (p.Gly836=)	1277	COL1A1	Conflicting interpretations of pathogenicity	200620805	RCV000177856\|RCV001083073\|RCV002433775;	N	MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN230736	17	48267413	48267413	17:g.48267413G>A	ClinGen:CA244807	CN169374 not specified;
NM_000088.4(COL1A1):c.2508C>A (p.Gly836=)	1277	COL1A1	Likely benign	-1	RCV002434912\|RCV003101905;	N	MedGen:CN230736\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48267413	48267413		-
NM_000088.4(COL1A1):c.2489G>A (p.Gly830Asp)	1277	COL1A1	Likely pathogenic	1906940342	RCV002008660\|RCV002276975;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666	17	48267432	48267432	48267432	-
NM_000088.4(COL1A1):c.2483_2485delinsG (p.Glu828fs)	1277	COL1A1	Likely pathogenic	-1	RCV002472333;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48267436	48267438	NC_000017.10:g.48267436_48267438delinsC	-
NM_000088.4(COL1A1):c.2482G>T (p.Glu828Ter)	1277	COL1A1	Pathogenic	-1	RCV002866895;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48267439	48267439	NC_000017.10:g.48267439C>A	-
NM_000088.4(COL1A1):c.2482G>A (p.Glu828Lys)	1277	COL1A1	Uncertain significance	-1	RCV003152970;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48267439	48267439		-
NM_000088.4(COL1A1):c.2481C>T (p.Gly827=)	1277	COL1A1	Conflicting interpretations of pathogenicity	779002822	RCV001771284\|RCV001868612\|RCV002425057;	N	MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN230736	17	48267440	48267440	48267440	-
NM_000088.4(COL1A1):c.2466A>G (p.Gln822=)	1277	COL1A1	Benign/Likely benign	551706871	RCV000606771\|RCV001515882\|RCV002431804;	N	MedGen:CN169374\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN230736	17	48267455	48267455	17:g.48267455T>C	ClinGen:CA8644789	CN169374 not specified;
NM_000088.4(COL1A1):c.2464C>G (p.Gln822Glu)	1277	COL1A1	Uncertain significance	72651668	RCV002026211\|RCV002425419;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN230736	17	48267457	48267457	48267457	-
NM_000088.4(COL1A1):c.2461G>A (p.Gly821Ser)	1277	COL1A1	Pathogenic	67693970	RCV000490757\|RCV000548232\|RCV001572316;	N	MONDO:MONDO:0008148,MedGen:C0268363,OMIM:166220, Orphanet:216820, Orphanet:666\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:C3661900	17	48267460	48267460	17:g.48267460C>T	ClinGen:CA291543310	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.2460C>T (p.Asp820=)	1277	COL1A1	Likely benign	-1	RCV002450568\|RCV003101844;	N	MedGen:CN230736\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48267461	48267461		-
NM_000088.4(COL1A1):c.2452G>A (p.Gly818Ser)	1277	COL1A1	Pathogenic/Likely pathogenic	1598290382	RCV000991255\|RCV001858505;	N	MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48267469	48267469	17:g.48267469C>T	-
NM_000088.4(COL1A1):c.2452-1G>C	1277	COL1A1	Pathogenic	72651667	RCV000815634;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48267470	48267470	17:g.48267470C>G	-
NM_000088.4(COL1A1):c.2452-1G>A	1277	COL1A1	Pathogenic	72651667	RCV001067208\|RCV003325541;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN517202	17	48267470	48267470	17:g.48267470C>T	-
NM_000088.4(COL1A1):c.2452-4C>T	1277	COL1A1	Likely benign	1267688094	RCV001457840;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48267473	48267473	48267473	-
NM_000088.4(COL1A1):c.2452-17C>A	1277	COL1A1	Likely benign	-1	RCV003072095;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48267486	48267486	NC_000017.10:g.48267486G>T	-
NM_000088.4(COL1A1):c.2452-19G>A	1277	COL1A1	Likely benign	762402176	RCV002086065;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48267488	48267488	48267488	-
NM_000088.4(COL1A1):c.2452-20C>T	1277	COL1A1	Likely benign	1165467743	RCV002097725;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48267489	48267489	48267489	-
NC_000017.11:g.(?_50190233)_(50190390_?)dup	1277	COL1A1	Uncertain significance	-1	RCV001033941;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48267594	48267751	-1	-
NM_000088.4(COL1A1):c.2451+14C>A	1277	COL1A1	Conflicting interpretations of pathogenicity	-1	RCV002726662\|RCV003324046;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN169374	17	48267674	48267674	NC_000017.10:g.48267674G>T	-
NM_000088.4(COL1A1):c.2451+13A>G	1277	COL1A1	Likely benign	-1	RCV002770394;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48267675	48267675	NC_000017.10:g.48267675T>C	-
NM_000088.4(COL1A1):c.2451+6T>A	1277	COL1A1	Uncertain significance	-1	RCV003046244;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48267682	48267682	NC_000017.10:g.48267682A>T	-
NM_000088.4(COL1A1):c.2451+5G>A	1277	COL1A1	Pathogenic	2144554325	RCV001948489;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48267683	48267683	48267683	-
NM_000088.4(COL1A1):c.2451+1G>C	1277	COL1A1	Pathogenic	-1	RCV003054457;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48267687	48267687	NC_000017.10:g.48267687C>G	-
NM_000088.4(COL1A1):c.2450dup (p.Gly818fs)	1277	COL1A1	Pathogenic	193922149	RCV000808112;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48267688	48267689	17:g.48267688_48267689insG	-
NM_000088.4(COL1A1):c.2451T>C (p.Pro817=)	1277	COL1A1	Conflicting interpretations of pathogenicity	374465457	RCV001995170\|RCV003426271;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:C3661900	17	48267688	48267688	48267688	-
NM_000088.4(COL1A1):c.2450_2451insG (p.Gly818fs)	1277	COL1A1	Likely pathogenic	-1	RCV003444020;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48267688	48267689		-
NM_000088.4(COL1A1):c.2450del (p.Pro817fs)	1277	COL1A1	Pathogenic/Likely pathogenic	193922149	RCV000029567\|RCV000706566;	N	MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48267689	48267689	17:g.48267689_48267689del	ClinGen:CA260296	C0029434 Osteogenesis imperfecta;
NM_000088.4(COL1A1):c.2449C>A (p.Pro817Thr)	1277	COL1A1	Uncertain significance	769167761	RCV000700409;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48267690	48267690	NC_000017.10:g.48267690G>T	-	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.2449C>T (p.Pro817Ser)	1277	COL1A1	Uncertain significance	-1	RCV003083143;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48267690	48267690	NC_000017.10:g.48267690G>A	-
NM_000088.4(COL1A1):c.2445C>T (p.Gly815=)	1277	COL1A1	Likely benign	762075856	RCV001439097;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48267694	48267694	48267694	-
NM_000088.4(COL1A1):c.2445C>A (p.Gly815=)	1277	COL1A1	Likely benign	762075856	RCV001433704;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48267694	48267694	48267694	-
NM_000088.4(COL1A1):c.2444G>C (p.Gly815Ala)	1277	COL1A1	Pathogenic	66929517	RCV001918022\|RCV003407923;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|	17	48267695	48267695	48267695	-
NM_000088.4(COL1A1):c.2429del (p.Pro810fs)	1277	COL1A1	Pathogenic	-1	RCV002829670;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48267710	48267710	NC_000017.10:g.48267712del	-
NM_000088.4(COL1A1):c.2428C>T (p.Pro810Ser)	1277	COL1A1	Uncertain significance	1555572744	RCV000631477\|RCV003227811;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN517202	17	48267711	48267711	17:g.48267711G>A	ClinGen:CA400207952	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.2424dup (p.Gly809fs)	1277	COL1A1	Pathogenic	1114167391	RCV000490708;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48267714	48267715	17:g.48267714_48267715insG	ClinGen:CA645293908	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.2424_2425insCG (p.Gly809fs)	1277	COL1A1	Pathogenic	1567756357	RCV000700568;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48267714	48267715	NC_000017.10:g.48267714_48267715insCG	-	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.2424del (p.Gly809fs)	1277	COL1A1	Pathogenic	1114167391	RCV000703460;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48267715	48267715	17:g.48267715_48267715del	-	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.2422C>A (p.Pro808Thr)	1277	COL1A1	Conflicting interpretations of pathogenicity	1215940390	RCV000659355\|RCV002534317;	N	MONDO:MONDO:0003900,MedGen:C0009782\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48267717	48267717	17:g.48267717G>T	-	C0009782 Connective tissue disorder;
NM_000088.4(COL1A1):c.2400_2409delinsGAAAGGGGAAGAGGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCT	1277	COL1A1	Pathogenic	2144554620	RCV001941521;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48267730	48267739	48267730	-
NM_000088.4(COL1A1):c.2405G>A (p.Arg802His)	1277	COL1A1	Conflicting interpretations of pathogenicity	556916354	RCV000700301\|RCV001849066;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:C3661900	17	48267734	48267734	17:g.48267734C>T	-	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.2404C>T (p.Arg802Cys)	1277	COL1A1	Uncertain significance	1459870410	RCV001222978\|RCV001773501;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN517202	17	48267735	48267735	17:g.48267735G>A	-
NM_000088.4(COL1A1):c.2400A>G (p.Gly800=)	1277	COL1A1	Likely benign	1555572759	RCV000631500;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48267739	48267739	17:g.48267739T>C	ClinGen:CA500845770	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.2398-1G>C	1277	COL1A1	Pathogenic/Likely pathogenic	193922147	RCV000029565\|RCV002513241;	N	MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48267742	48267742	17:g.48267742C>G	ClinGen:CA260294	C0029434 Osteogenesis imperfecta;
NM_000088.4(COL1A1):c.2398-4C>T	1277	COL1A1	Likely benign	1054580849	RCV002120580;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48267745	48267745	48267745	-
NM_000088.4(COL1A1):c.2398-12C>A	1277	COL1A1	Likely benign	-1	RCV003056753;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48267753	48267753	NC_000017.10:g.48267753G>T	-
NM_000088.4(COL1A1):c.2398-14T>A	1277	COL1A1	Likely benign	757350752	RCV002153114;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48267755	48267755	48267755	-
NM_000088.4(COL1A1):c.2397+15C>T	1277	COL1A1	Likely benign	2144555128	RCV002087321;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48267889	48267889	48267889	-
NM_000088.4(COL1A1):c.2397+10G>C	1277	COL1A1	Likely benign	2144555148	RCV002205937;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48267894	48267894	48267894	-
NM_000088.4(COL1A1):c.2397C>T (p.Pro799=)	1277	COL1A1	Uncertain significance	750493684	RCV001054678\|RCV002276605;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000, Orphanet:98249	17	48267904	48267904	17:g.48267904G>A	-
NM_000088.4(COL1A1):c.2397del (p.Gly800fs)	1277	COL1A1	Pathogenic	1906989648	RCV001213257;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48267904	48267904	17:g.48267904_48267904del	-
NM_000088.4(COL1A1):c.2387G>A (p.Arg796His)	1277	COL1A1	Uncertain significance	72651662	RCV000698296\|RCV003411626;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|	17	48267914	48267914	NC_000017.10:g.48267914C>T	-	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.2386C>T (p.Arg796Cys)	1277	COL1A1	Uncertain significance	751890158	RCV001872244\|RCV002458668;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN230736	17	48267915	48267915	48267915	-
NM_000088.4(COL1A1):c.2382A>G (p.Gly794=)	1277	COL1A1	Likely benign	2144555296	RCV002163344;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48267919	48267919	48267919	-
NM_000088.4(COL1A1):c.2362G>A (p.Gly788Ser)	1277	COL1A1	Pathogenic	67879854	RCV000516519\|RCV000707194\|RCV000763408\|RCV003403211;	N	MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|7 conditions\|	17	48267939	48267939	17:g.48267939C>T	ClinGen:CA291543403	CN517202 not provided;
NM_000088.4(COL1A1):c.2357C>T (p.Pro786Leu)	1277	COL1A1	Uncertain significance	756537765	RCV001237205;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48267944	48267944	17:g.48267944G>A	-
NM_000088.4(COL1A1):c.2355T>A (p.Gly785=)	1277	COL1A1	Likely benign	137937544	RCV001488395\|RCV001587433\|RCV002449288;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:C3661900\|MedGen:CN230736	17	48267946	48267946	48267946	-
NM_000088.4(COL1A1):c.2344-1G>A	1277	COL1A1	Pathogenic	1567756567	RCV000697550;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48267958	48267958	NC_000017.10:g.48267958C>T	-	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.2344-11C>T	1277	COL1A1	Likely benign	1352672171	RCV002209653;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48267968	48267968	48267968	-
NM_000088.4(COL1A1):c.2344-12C>T	1277	COL1A1	Likely benign	-1	RCV002996471;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48267969	48267969	NC_000017.10:g.48267969G>A	-
NM_000088.4(COL1A1):c.2343+18C>T	1277	COL1A1	Likely benign	1050837911	RCV000607172\|RCV003117411;	N	MedGen:CN169374\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48268160	48268160	17:g.48268160G>A	ClinGen:CA291543874	CN169374 not specified;
NM_000088.4(COL1A1):c.2343+15T>A	1277	COL1A1	Likely benign	-1	RCV002851752;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48268163	48268163	NC_000017.10:g.48268163A>T	-
NM_000088.4(COL1A1):c.2343+11C>T	1277	COL1A1	Likely benign	369846335	RCV002107943;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48268167	48268167	48268167	-
NM_000088.4(COL1A1):c.2343+1G>A	1277	COL1A1	Pathogenic	1114167378	RCV000490722\|RCV002475958;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|8 conditions	17	48268177	48268177	17:g.48268177C>T	ClinGen:CA400209743	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.2334del (p.Gly779fs)	1277	COL1A1	Pathogenic	-1	RCV003072873;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48268187	48268187	NC_000017.10:g.48268187del	-
NM_000088.4(COL1A1):c.2333C>T (p.Pro778Leu)	1277	COL1A1	Uncertain significance	1181679779	RCV000797307;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48268188	48268188	17:g.48268188G>A	-
NM_000088.4(COL1A1):c.2333del (p.Pro778fs)	1277	COL1A1	Pathogenic	-1	RCV003045792;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48268188	48268188	NC_000017.10:g.48268191del	-
NM_000088.4(COL1A1):c.2305A>T (p.Ile769Phe)	1277	COL1A1	Uncertain significance	2144556397	RCV001979644;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48268216	48268216	48268216	-
NM_000088.4(COL1A1):c.2301C>T (p.Gly767=)	1277	COL1A1	Likely benign	773279512	RCV002202257\|RCV002443122;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN230736	17	48268220	48268220	48268220	-
NM_000088.4(COL1A1):c.2299G>A (p.Gly767Ser)	1277	COL1A1	Pathogenic	72651658	RCV000657898\|RCV000690534\|RCV002279474;	N	MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666	17	48268222	48268222	17:g.48268222C>T	-	CN517202 not provided;
NM_000088.4(COL1A1):c.2291G>C (p.Gly764Ala)	1277	COL1A1	Likely pathogenic	72651657	RCV001226870;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48268230	48268230	17:g.48268230C>G	-
NM_000088.4(COL1A1):c.2289del (p.Gly764fs)	1277	COL1A1	Pathogenic	2144556507	RCV001946783;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48268232	48268232	48268231	-
NM_000088.4(COL1A1):c.2288G>A (p.Arg763His)	1277	COL1A1	Conflicting interpretations of pathogenicity	144820445	RCV000725475\|RCV001051624\|RCV001807210;	N	MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|Human Phenotype Ontology:HP:0003549,MedGen:C4025596	17	48268233	48268233	17:g.48268233C>T	ClinGen:CA8644877	CN169374 not specified;
NM_000088.4(COL1A1):c.2284G>A (p.Val762Ile)	1277	COL1A1	Conflicting interpretations of pathogenicity	138749826	RCV001774467\|RCV001868578;	N	MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48268237	48268237	48268237	-
NM_000088.4(COL1A1):c.2283C>T (p.Gly761=)	1277	COL1A1	Conflicting interpretations of pathogenicity	759665341	RCV000731118\|RCV001078689\|RCV002279504\|RCV002442555;	N	MedGen:CN517202\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000, Orphanet:98249\|MedGen:CN230736	17	48268238	48268238	NC_000017.10:g.48268238G>A	-
NM_000088.4(COL1A1):c.2276A>C (p.Lys759Thr)	1277	COL1A1	Likely benign	370916785	RCV002018204;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48268245	48268245	48268245	-
NM_000088.4(COL1A1):c.2274C>T (p.Gly758=)	1277	COL1A1	Benign/Likely benign	200111312	RCV001519636\|RCV002449349;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN230736	17	48268247	48268247	48268247	-
NM_000088.4(COL1A1):c.2253del (p.Gly752fs)	1277	COL1A1	Pathogenic	1598291438	RCV000808139;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48268268	48268268	17:g.48268268_48268268del	-
NM_000088.4(COL1A1):c.2249C>G (p.Pro750Arg)	1277	COL1A1	Uncertain significance	-1	RCV002305282;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48268272	48268272	48268272	-
NM_000088.4(COL1A1):c.2245G>A (p.Gly749Ser)	1277	COL1A1	Pathogenic	-1	RCV003041317;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48268276	48268276	NC_000017.10:g.48268276C>T	-
NM_000088.4(COL1A1):c.2244T>C (p.Ala748=)	1277	COL1A1	Likely benign	2144556720	RCV001495588;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48268277	48268277	48268277	-
NM_000088.4(COL1A1):c.2236-1G>C	1277	COL1A1	Pathogenic	1907020116	RCV001229866;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48268286	48268286	17:g.48268286C>G	-
NM_000088.4(COL1A1):c.2236-9T>C	1277	COL1A1	Likely benign	375248255	RCV002214787\|RCV003120808;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:C3661900	17	48268294	48268294	48268294	-
NM_000088.4(COL1A1):c.2236-17C>G	1277	COL1A1	Benign/Likely benign	193922146	RCV000710763\|RCV002054483\|RCV003234923;	N	MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN169374	17	48268302	48268302	17:g.48268302G>C	ClinGen:CA260293	CN169374 not specified;
NM_000088.4(COL1A1):c.2235+15C>T	1277	COL1A1	Benign/Likely benign	754442679	RCV000659354\|RCV002066956;	N	MONDO:MONDO:0003900,MedGen:C0009782\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48268729	48268729	NC_000017.10:g.48268729G>A	-	C0009782 Connective tissue disorder;
NM_000088.4(COL1A1):c.2235+12C>T	1277	COL1A1	Likely benign	-1	RCV002638916;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48268732	48268732	NC_000017.10:g.48268732G>A	-
NM_000088.4(COL1A1):c.2235+11C>A	1277	COL1A1	Likely benign	572426023	RCV000608724\|RCV002531530;	N	MedGen:CN169374\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48268733	48268733	17:g.48268733G>T	ClinGen:CA8644905	CN169374 not specified;
NM_000088.4(COL1A1):c.2235+11C>G	1277	COL1A1	Likely benign	572426023	RCV000605711\|RCV002529718;	N	MedGen:CN169374\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48268733	48268733	17:g.48268733G>C	ClinGen:CA8644906	CN169374 not specified;
NM_000088.4(COL1A1):c.2235+5G>T	1277	COL1A1	Uncertain significance	1907061034	RCV001320405;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48268739	48268739	48268739	-
NM_000088.4(COL1A1):c.2235+4A>C	1277	COL1A1	Uncertain significance	1382593990	RCV001373356\|RCV002276717\|RCV003329405;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MedGen:C3661900	17	48268740	48268740	48268740	-
NM_000088.4(COL1A1):c.2235+1G>C	1277	COL1A1	Pathogenic	1114167390	RCV001381923;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48268743	48268743	48268743	-
NM_000088.4(COL1A1):c.2220G>T (p.Gly740=)	1277	COL1A1	Likely benign	1284213555	RCV001498618;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48268759	48268759	48268759	-
NM_000088.4(COL1A1):c.2217del (p.Pro741fs)	1277	COL1A1	Pathogenic	1555573004	RCV000551842;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48268762	48268762	NC_000017.10:g.48268762del	ClinGen:CA658656706	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.2216C>T (p.Pro739Leu)	1277	COL1A1	Uncertain significance	755786796	RCV000702311;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48268763	48268763	17:g.48268763G>A	-	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.2215C>G (p.Pro739Ala)	1277	COL1A1	Uncertain significance	1282743605	RCV001007586;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48268764	48268764	17:g.48268764G>C	-
NM_000088.4(COL1A1):c.2203G>T (p.Ala735Ser)	1277	COL1A1	Uncertain significance	1555573014	RCV000534815;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48268776	48268776	17:g.48268776C>A	ClinGen:CA400210942	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.2200G>A (p.Gly734Ser)	1277	COL1A1	Pathogenic	2144558383	RCV001913480;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48268779	48268779	48268779	-
NM_000088.4(COL1A1):c.2197C>T (p.Arg733Cys)	1277	COL1A1	Likely pathogenic	1567757112	RCV000693048;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48268782	48268782	17:g.48268782G>A	-	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.2182G>T (p.Gly728Ter)	1277	COL1A1	Pathogenic	72651648	RCV001175159;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48268797	48268797	17:g.48268797C>A	-
NM_000088.4(COL1A1):c.2181G>A (p.Gln727=)	1277	COL1A1	Conflicting interpretations of pathogenicity	777571745	RCV000706949\|RCV001704516\|RCV002429435;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN517202\|MedGen:CN230736	17	48268798	48268798	17:g.48268798C>T	ClinGen:CA8644908	CN169374 not specified;
NM_000088.4(COL1A1):c.2180A>G (p.Gln727Arg)	1277	COL1A1	Uncertain significance	-1	RCV002592350;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48268799	48268799	NC_000017.10:g.48268799T>C	-
NM_000088.4(COL1A1):c.2179C>T (p.Gln727Ter)	1277	COL1A1	Pathogenic	-1	RCV003112382;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48268800	48268800	NC_000017.10:g.48268800G>A	-
NM_000088.4(COL1A1):c.2175C>T (p.Gly725=)	1277	COL1A1	Benign	35017779	RCV000616901\|RCV000710762\|RCV001257061\|RCV002279329\|RCV002431534;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MedGen:CN230736	17	48268804	48268804	NC_000017.10:g.48268804G>A	ClinGen:CA8644911	CN169374 not specified;
NM_000088.4(COL1A1):c.2172del (p.Gly725fs)	1277	COL1A1	Pathogenic	1567757138	RCV000735822;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48268807	48268807	NC_000017.10:g.48268807del	-
NM_000088.4(COL1A1):c.2167G>A (p.Ala723Thr)	1277	COL1A1	Conflicting interpretations of pathogenicity	150803124	RCV000877735\|RCV001125580\|RCV001125579\|RCV001125581\|RCV001697902\|RCV002431790;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MONDO:MONDO:0007525,MedGen:C4551623,OMIM:130060, Orphanet:1899, Orphanet:99875, Orphanet:99876\|MONDO:MONDO:0007244,MedGen:C0020497,OMIM:114000, Orphanet:1310\|MONDO:MONDO:0019019,Me	17	48268812	48268812	17:g.48268812C>T	ClinGen:CA8644913	CN169374 not specified;
NM_000088.4(COL1A1):c.2167G>T (p.Ala723Ser)	1277	COL1A1	Uncertain significance	-1	RCV003032452;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48268812	48268812	NC_000017.10:g.48268812C>A	-
NM_000088.4(COL1A1):c.2166C>T (p.Gly722=)	1277	COL1A1	Likely benign	200188855	RCV002501236\|RCV000864692\|RCV001310368\|RCV002427117;	N	8 conditions\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:C3661900\|MedGen:CN230736	17	48268813	48268813	17:g.48268813G>A	-
NM_000088.4(COL1A1):c.2159del (p.Ser720fs)	1277	COL1A1	Pathogenic	2144558687	RCV001950937;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48268820	48268820	48268819	-
NM_000088.4(COL1A1):c.2155G>T (p.Gly719Cys)	1277	COL1A1	Pathogenic	72651645	RCV001048795;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48268824	48268824	17:g.48268824C>A	-
NM_000088.4(COL1A1):c.2151_2154dup (p.Gly719fs)	1277	COL1A1	Pathogenic	2144558735	RCV001922582;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48268824	48268825	48268824	-
NM_000088.4(COL1A1):c.2154C>T (p.Pro718=)	1277	COL1A1	Likely benign	550291465	RCV001422045;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48268825	48268825	48268825	-
NM_000088.4(COL1A1):c.2141C>T (p.Ala714Val)	1277	COL1A1	Benign	-1	RCV002982566;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48268838	48268838	NC_000017.10:g.48268838G>A	-
NM_000088.4(COL1A1):c.2140G>A (p.Ala714Thr)	1277	COL1A1	Uncertain significance	-1	RCV002612031;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48268839	48268839	NC_000017.10:g.48268839C>T	-
NM_000088.4(COL1A1):c.2139del (p.Ala714fs)	1277	COL1A1	Pathogenic	1555573039	RCV000546354;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48268840	48268840	17:g.48268840_48268840del	ClinGen:CA658656707	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.2136T>G (p.Ala712=)	1277	COL1A1	Likely benign	762156466	RCV001493917;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48268843	48268843	48268843	-
NM_000088.4(COL1A1):c.2128-1G>C	1277	COL1A1	Pathogenic	67543897	RCV000533873\|RCV001000789;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN169374	17	48268852	48268852	17:g.48268852C>G	ClinGen:CA291543992	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.2128-1G>A	1277	COL1A1	Pathogenic	67543897	RCV001061299;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48268852	48268852	17:g.48268852C>T	-
NM_000088.4(COL1A1):c.2128-1G>T	1277	COL1A1	Pathogenic	67543897	RCV001048044;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48268852	48268852	17:g.48268852C>A	-
NM_000088.4(COL1A1):c.2128-5C>T	1277	COL1A1	Likely benign	2144558904	RCV002149805;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48268856	48268856	48268856	-
NM_000088.4(COL1A1):c.2128-15T>C	1277	COL1A1	Uncertain significance	-1	RCV003097632;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48268866	48268866	NC_000017.10:g.48268866A>G	-
NM_000088.4(COL1A1):c.2128-16C>G	1277	COL1A1	Likely benign	763565986	RCV001958793;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48268867	48268867	48268867	-
NM_000088.4(COL1A1):c.2128-20T>A	1277	COL1A1	Likely benign	-1	RCV002885944;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48268871	48268871	NC_000017.10:g.48268871A>T	-
NM_000088.4(COL1A1):c.2127+12G>A	1277	COL1A1	Likely benign	778814970	RCV000611081\|RCV002066645;	N	MedGen:CN169374\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48269137	48269137	17:g.48269137C>T	ClinGen:CA8644928	CN169374 not specified;
NM_000088.4(COL1A1):c.2127+11C>T	1277	COL1A1	Likely benign	-1	RCV002889624;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48269138	48269138	NC_000017.10:g.48269138G>A	-
NM_000088.4(COL1A1):c.2127+7G>C	1277	COL1A1	Likely benign	1184194000	RCV002160025;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48269142	48269142	48269142	-
NM_000088.4(COL1A1):c.2127+2T>A	1277	COL1A1	Pathogenic	72651644	RCV000695888;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48269147	48269147	NC_000017.10:g.48269147A>T	-	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.2127+1G>A	1277	COL1A1	Pathogenic	1181095991	RCV000817116;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48269148	48269148	17:g.48269148C>T	-
NM_000088.4(COL1A1):c.2115C>T (p.Asn705=)	1277	COL1A1	Benign/Likely benign	41316673	RCV001079564\|RCV001712486\|RCV002279328\|RCV002420357;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:C3661900\|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MedGen:CN230736	17	48269161	48269161	NC_000017.10:g.48269161G>A	ClinGen:CA8644932	CN169374 not specified;
NM_000088.4(COL1A1):c.2112C>A (p.Gly704=)	1277	COL1A1	Likely benign	768785416	RCV000631499;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48269164	48269164	NC_000017.10:g.48269164G>T	ClinGen:CA8644933	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.2110G>A (p.Gly704Ser)	1277	COL1A1	Pathogenic	67368147	RCV001002442\|RCV001385147\|RCV001547154\|RCV001822862;	N	MedGen:CN169374\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:C3661900\|MONDO:MONDO:0008147,MedGen:C0268358,OMIM:166210, Orphanet:216804	17	48269166	48269166	17:g.48269166C>T	-
NM_000088.4(COL1A1):c.2109C>T (p.Pro703=)	1277	COL1A1	Likely benign	-1	RCV002424341\|RCV003101059;	N	MedGen:CN230736\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48269167	48269167		-
NM_000088.4(COL1A1):c.2107C>G (p.Pro703Ala)	1277	COL1A1	Uncertain significance	1339321096	RCV000814870;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48269169	48269169	17:g.48269169G>C	-
NM_000088.4(COL1A1):c.2095_2102del (p.Ala699fs)	1277	COL1A1	Pathogenic	2144560147	RCV001930458;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48269174	48269181	48269173	-
NM_000088.4(COL1A1):c.2101G>A (p.Gly701Ser)	1277	COL1A1	Pathogenic/Likely pathogenic	68114505	RCV001385148\|RCV002250757\|RCV003332338;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MONDO:MONDO:0009804,MedGen:C0268362,OMIM:259420, Orphanet:216812, Orphanet:666\|MedGen:C3661900	17	48269175	48269175	48269175	-
NM_000088.4(COL1A1):c.2100C>T (p.Asn700=)	1277	COL1A1	Likely benign	201122145	RCV001562674\|RCV002421198\|RCV002568417;	N	MedGen:C3661900\|MedGen:CN230736\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48269176	48269176	48269176	-
NM_000088.4(COL1A1):c.2091_2092del (p.Ala699fs)	1277	COL1A1	Pathogenic	1114167389	RCV000490743;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48269184	48269185	17:g.48269184_48269185del	ClinGen:CA645294108	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.2090G>A (p.Arg697Gln)	1277	COL1A1	Conflicting interpretations of pathogenicity	202221716	RCV001754861\|RCV001868436;	N	MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48269186	48269186	48269186	-
NM_000088.4(COL1A1):c.2089C>T (p.Arg697Ter)	1277	COL1A1	Pathogenic	72651642	RCV000358677\|RCV000490669\|RCV000497565\|RCV000763409;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MONDO:MONDO:0008148,MedGen:C0268363,OMIM:166220, Orphanet:216820, Orphanet:666\|MedGen:C3661900\|7 conditions	17	48269187	48269187	17:g.48269187G>A	ClinGen:CA10605745	CN517202 not provided;
NM_000088.4(COL1A1):c.2089del (p.Arg697fs)	1277	COL1A1	Pathogenic	-1	RCV002867605;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48269187	48269187	NC_000017.10:g.48269190del	-
NM_000088.4(COL1A1):c.2087C>T (p.Pro696Leu)	1277	COL1A1	Uncertain significance	-1	RCV002937241;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48269189	48269189	NC_000017.10:g.48269189G>A	-
NM_000088.4(COL1A1):c.2085del (p.Arg697fs)	1277	COL1A1	Pathogenic	2144560315	RCV001994814;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48269191	48269191	48269190	-
NM_000088.4(COL1A1):c.2084del (p.Gly695fs)	1277	COL1A1	Pathogenic	72651641	RCV001058870\|RCV002250721\|RCV003393828;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MONDO:MONDO:0009804,MedGen:C0268362,OMIM:259420, Orphanet:216812, Orphanet:666\|	17	48269192	48269192	17:g.48269192_48269192del	-
NM_000088.4(COL1A1):c.2076T>C (p.Gly692=)	1277	COL1A1	Likely benign	-1	RCV002422219\|RCV003101041;	N	MedGen:CN230736\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48269200	48269200		-
NM_000088.4(COL1A1):c.2073del (p.Gly692fs)	1277	COL1A1	Pathogenic	72651640	RCV000599013\|RCV000631474;	N	MedGen:CN517202\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48269203	48269203	NC_000017.10:g.48269203del	ClinGen:CA291544054	CN517202 not provided;
NM_000088.4(COL1A1):c.2072C>T (p.Pro691Leu)	1277	COL1A1	Likely benign	775055638	RCV001998091;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48269204	48269204	48269204	-
NM_000088.4(COL1A1):c.2072del (p.Pro691fs)	1277	COL1A1	Pathogenic	72651639	RCV002272831;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48269204	48269204	48269203	-
NM_000088.4(COL1A1):c.2069C>T (p.Pro690Leu)	1277	COL1A1	Conflicting interpretations of pathogenicity	760258050	RCV000981759\|RCV001455114;	N	MedGen:CN517202\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48269207	48269207	17:g.48269207G>A	-
NM_000088.4(COL1A1):c.2058_2062del (p.Val687fs)	1277	COL1A1	Pathogenic	1907110994	RCV001220253;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48269214	48269218	17:g.48269214_48269218del	-
NM_000088.4(COL1A1):c.2059G>A (p.Val687Met)	1277	COL1A1	Uncertain significance	553233250	RCV001219400;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48269217	48269217	17:g.48269217C>T	-
NM_000088.4(COL1A1):c.2054G>A (p.Arg685His)	1277	COL1A1	Likely benign	573132397	RCV001926734;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48269222	48269222	48269222	-
NM_000088.4(COL1A1):c.2053C>T (p.Arg685Cys)	1277	COL1A1	Uncertain significance	764826942	RCV000695464\|RCV003229855;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN517202	17	48269223	48269223	17:g.48269223G>A	-	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.2049C>T (p.Gly683=)	1277	COL1A1	Uncertain significance	149352055	RCV001873932;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48269227	48269227	48269227	-
NM_000088.4(COL1A1):c.2048G>C (p.Gly683Ala)	1277	COL1A1	Likely pathogenic	1598292524	RCV001236885;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48269228	48269228	17:g.48269228C>G	-
NM_000088.4(COL1A1):c.2039del (p.Gly680fs)	1277	COL1A1	Pathogenic	-1	RCV003224942;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48269237	48269237		-
NM_000088.4(COL1A1):c.2036G>C (p.Arg679Thr)	1277	COL1A1	Uncertain significance	972507105	RCV001247864;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48269240	48269240	17:g.48269240C>G	-
NM_000088.4(COL1A1):c.2032G>A (p.Glu678Lys)	1277	COL1A1	Conflicting interpretations of pathogenicity	1213427451	RCV000533017\|RCV002279327\|RCV002289720;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000, Orphanet:98249\|MedGen:CN517202	17	48269244	48269244	NC_000017.10:g.48269244C>T	ClinGen:CA400212062	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.2031C>A (p.Gly677=)	1277	COL1A1	Likely benign	-1	RCV003116079;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48269245	48269245		-
NM_000088.4(COL1A1):c.2029-4C>A	1277	COL1A1	Likely benign	-1	RCV002952737;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48269251	48269251	NC_000017.10:g.48269251G>T	-
NM_000088.4(COL1A1):c.2028+39C>T	1277	COL1A1	Benign	2857396	RCV000834131\|RCV001593033\|RCV001593034\|RCV001593035\|RCV001593036\|RCV001593032;	N	MedGen:C3661900\|MONDO:MONDO:0008148,MedGen:C0268363,OMIM:166220, Orphanet:216820, Orphanet:666\|MONDO:MONDO:0008147,MedGen:C0268358,OMIM:166210, Orphanet:216804\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MONDO:MONDO:0007525	17	48269302	48269302	17:g.48269302G>A	-
NM_000088.4(COL1A1):c.2028+3_2028+20del	1277	COL1A1	Uncertain significance	2144561189	RCV001940033;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48269321	48269338	48269320	-
NM_000088.4(COL1A1):c.2028+18G>A	1277	COL1A1	Likely benign	745829877	RCV001812354\|RCV002069515;	N	MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48269323	48269323	48269323	-
NM_000088.4(COL1A1):c.2028+17C>T	1277	COL1A1	Likely benign	-1	RCV002569463;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48269324	48269324	NC_000017.10:g.48269324G>A	-
NM_000088.4(COL1A1):c.2028+17C>G	1277	COL1A1	Likely benign	-1	RCV002756211;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48269324	48269324	NC_000017.10:g.48269324G>C	-
NM_000088.4(COL1A1):c.2028+2T>G	1277	COL1A1	Pathogenic	72651635	RCV000552461;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48269339	48269339	NC_000017.10:g.48269339A>C	ClinGen:CA291544088	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.2028+2T>A	1277	COL1A1	Pathogenic	-1	RCV002801974;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48269339	48269339	NC_000017.10:g.48269339A>T	-
NM_000088.4(COL1A1):c.2026A>T (p.Arg676Ter)	1277	COL1A1	Pathogenic	2144561250	RCV002035317;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48269343	48269343	48269343	-
NM_000088.4(COL1A1):c.2024C>A (p.Ala675Glu)	1277	COL1A1	Likely benign	1308244294	RCV001309487;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48269345	48269345	48269345	-
NM_000088.4(COL1A1):c.2020G>T (p.Gly674Ter)	1277	COL1A1	Pathogenic	-1	RCV002876664;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48269349	48269349	NC_000017.10:g.48269349C>A	-
NM_000088.4(COL1A1):c.2018C>A (p.Ser673Tyr)	1277	COL1A1	Uncertain significance	1263860713	RCV001978132;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48269351	48269351	48269351	-
NM_000088.4(COL1A1):c.2010del (p.Gly671fs)	1277	COL1A1	Pathogenic	72651634	RCV000591312\|RCV000726619\|RCV001251156;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:C3661900\|MONDO:MONDO:0008147,MedGen:C0268358,OMIM:166210, Orphanet:216804	17	48269359	48269359	17:g.48269359_48269359del	ClinGen:CA291544089	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.2005G>C (p.Ala669Pro)	1277	COL1A1	Uncertain significance	563598815	RCV001324366;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48269364	48269364	48269364	-
NM_000088.4(COL1A1):c.2005G>A (p.Ala669Thr)	1277	COL1A1	Conflicting interpretations of pathogenicity	563598815	RCV001321934\|RCV002276691\|RCV002418966\|RCV003145567;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000, Orphanet:98249\|MedGen:CN230736\|MedGen:C3661900	17	48269364	48269364	48269364	-
NM_000088.3(COL1A1):c.1985del	1277	COL1A1	Pathogenic	1907143600	RCV001232264;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48269384	48269384	17:g.48269384_48269384del	-
NM_000088.4(COL1A1):c.1984-1G>A	1277	COL1A1	Pathogenic	2144561474	RCV001971974;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48269386	48269386	48269386	-
NM_000088.4(COL1A1):c.1984-2A>T	1277	COL1A1	Pathogenic	72651632	RCV001987245;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48269387	48269387	48269387	-
NM_000088.4(COL1A1):c.1984-2A>G	1277	COL1A1	Pathogenic	-1	RCV003046232;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48269387	48269387	NC_000017.10:g.48269387T>C	-
NM_000088.4(COL1A1):c.1984-5C>A	1277	COL1A1	Conflicting interpretations of pathogenicity	66592376	RCV000177437\|RCV000514224\|RCV000659353\|RCV000989945\|RCV001125582\|RCV001127681\|RCV001127682\|RCV002277393\|RCV002415762;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0003900,MedGen:C0009782\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MONDO:MONDO:0007525,MedGen:C4551623,OMIM:130060, Orphanet:1899, Orphanet:99875, Orphanet:99876\|MONDO:MONDO:0007	17	48269390	48269390	17:g.48269390G>T	ClinGen:CA202470	C0009782 Connective tissue disorder;
NM_000088.4(COL1A1):c.1984-6C>A	1277	COL1A1	Conflicting interpretations of pathogenicity	373873548	RCV001090962\|RCV001862685;	N	MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48269391	48269391	17:g.48269391G>T	-
NM_000088.4(COL1A1):c.1984-6C>G	1277	COL1A1	Conflicting interpretations of pathogenicity	373873548	RCV002277885\|RCV003096250;	N	MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48269391	48269391	48269391	-
NM_000088.4(COL1A1):c.1984-7C>G	1277	COL1A1	Benign/Likely benign	376886366	RCV001514640\|RCV001698406;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:C3661900	17	48269392	48269392	17:g.48269392G>C	ClinGen:CA8644975	CN169374 not specified;
NM_000088.4(COL1A1):c.1984-13C>A	1277	COL1A1	Benign/Likely benign	772638625	RCV001571913\|RCV002072226;	N	MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48269398	48269398	48269398	-
NM_000088.4(COL1A1):c.1984-13C>G	1277	COL1A1	Likely benign	-1	RCV003026085;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48269398	48269398	NC_000017.10:g.48269398G>C	-
NM_000088.4(COL1A1):c.1984-41G>A	1277	COL1A1	Benign	2586490	RCV000834130\|RCV001593027\|RCV001593028\|RCV001593030\|RCV001593029\|RCV001593031;	N	MedGen:C3661900\|MONDO:MONDO:0009804,MedGen:C0268362,OMIM:259420, Orphanet:216812, Orphanet:666\|MONDO:MONDO:0008148,MedGen:C0268363,OMIM:166220, Orphanet:216820, Orphanet:666\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MONDO:	17	48269426	48269426	17:g.48269426C>T	-
NM_000088.4(COL1A1):c.1983+16C>T	1277	COL1A1	Likely benign	536312322	RCV001810602\|RCV002069533;	N	MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48269820	48269820	48269820	-
NM_000088.4(COL1A1):c.1983+12C>T	1277	COL1A1	Likely benign	-1	RCV002775919;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48269824	48269824	NC_000017.10:g.48269824G>A	-
NM_000088.4(COL1A1):c.1983+9G>C	1277	COL1A1	Benign/Likely benign	201091992	RCV000516999\|RCV000631506\|RCV001127683\|RCV001127685\|RCV001127684\|RCV002279302;	N	MedGen:CN169374\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MONDO:MONDO:0007525,MedGen:C4551623,OMIM:130060, Orphanet:1899, Orphanet:99875,Orphane	17	48269827	48269827	17:g.48269827C>G	ClinGen:CA8644998	CN169374 not specified;
NM_000088.4(COL1A1):c.1983+9G>A	1277	COL1A1	Likely benign	201091992	RCV002188143;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48269827	48269827	48269827	-
NM_000088.4(COL1A1):c.1983+2dup	1277	COL1A1	Uncertain significance	-1	RCV002856740;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48269833	48269834	NC_000017.10:g.48269834dup	-
NM_000088.4(COL1A1):c.1981C>T (p.Gln661Ter)	1277	COL1A1	Pathogenic	72651631	RCV001385149;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48269838	48269838	48269838	-
NM_000088.4(COL1A1):c.1978G>T (p.Glu660Ter)	1277	COL1A1	Pathogenic	-1	RCV002834647;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48269841	48269841	NC_000017.10:g.48269841C>A	-
NM_000088.4(COL1A1):c.1977T>C (p.Gly659=)	1277	COL1A1	Likely benign	-1	RCV003083128;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48269842	48269842		-
NM_000088.4(COL1A1):c.1951C>T (p.Pro651Ser)	1277	COL1A1	Uncertain significance	-1	RCV002421555\|RCV003097378;	N	MedGen:CN230736\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48269868	48269868	48269868	-
NM_000088.4(COL1A1):c.1945G>A (p.Ala649Thr)	1277	COL1A1	Uncertain significance	2144563154	RCV002027175;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48269874	48269874	48269874	-
NM_000088.4(COL1A1):c.1944T>C (p.Pro648=)	1277	COL1A1	Likely benign	1301142840	RCV002104039;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48269875	48269875	48269875	-
NM_000088.4(COL1A1):c.1930-1G>A	1277	COL1A1	Pathogenic	1555573288	RCV000631496;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48269890	48269890	17:g.48269890C>T	ClinGen:CA400213514	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.1930-2A>G	1277	COL1A1	Pathogenic	2144563277	RCV001874335;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48269891	48269891	48269891	-
NM_000088.4(COL1A1):c.1930-5T>C	1277	COL1A1	Conflicting interpretations of pathogenicity	762377921	RCV001467964\|RCV001712640\|RCV002413728;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:C3661900\|MedGen:CN230736	17	48269894	48269894	17:g.48269894A>G	ClinGen:CA8645003	CN169374 not specified;
NM_000088.4(COL1A1):c.1929+17G>C	1277	COL1A1	Likely benign	1291997527	RCV000610104\|RCV002528634;	N	MedGen:CN169374\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48269984	48269984	17:g.48269984C>G	ClinGen:CA626485877	CN169374 not specified;
NM_000088.4(COL1A1):c.1929+12T>C	1277	COL1A1	Likely benign	-1	RCV002624961;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48269989	48269989	NC_000017.10:g.48269989A>G	-
NM_000088.4(COL1A1):c.1929+10C>T	1277	COL1A1	Likely benign	-1	RCV003087243;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48269991	48269991	NC_000017.10:g.48269991G>A	-
NM_000088.4(COL1A1):c.1929+4A>C	1277	COL1A1	Uncertain significance	376244140	RCV000516424\|RCV000817511;	N	MedGen:CN169374\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48269997	48269997	17:g.48269997T>G	ClinGen:CA291544248	CN169374 not specified;
NM_000088.4(COL1A1):c.1929+1G>A	1277	COL1A1	Pathogenic	1555573313	RCV000505628;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48270000	48270000	17:g.48270000C>T	ClinGen:CA400213575	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.1922G>C (p.Gly641Ala)	1277	COL1A1	Pathogenic	1598293646	RCV002047521;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48270008	48270008	48270008	-
NM_000088.4(COL1A1):c.1921G>A (p.Gly641Arg)	1277	COL1A1	Pathogenic	2144563717	RCV001953757\|RCV002307816;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:C3661900	17	48270009	48270009	48270009	-
NM_000088.4(COL1A1):c.1920C>T (p.Pro640=)	1277	COL1A1	Benign/Likely benign	745564892	RCV001289257\|RCV001495269\|RCV002411931;	N	MedGen:CN169374\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN230736	17	48270010	48270010	48270010	-
NM_000088.4(COL1A1):c.1920del (p.Gly641fs)	1277	COL1A1	Pathogenic	2144563732	RCV001729994;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48270010	48270010	48270009	-
NM_000088.4(COL1A1):c.1909G>C (p.Ala637Pro)	1277	COL1A1	Uncertain significance	-1	RCV002972159;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48270021	48270021	NC_000017.10:g.48270021C>G	-
NM_000088.4(COL1A1):c.1897G>A (p.Glu633Lys)	1277	COL1A1	Uncertain significance	2144563826	RCV001982349;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48270033	48270033	48270033	-
NM_000088.4(COL1A1):c.1893_1894del (p.Arg631_Gly632insTer)	1277	COL1A1	Pathogenic	2144563856	RCV001952615;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48270036	48270037	48270035	-
NM_000088.4(COL1A1):c.1887C>T (p.Gly629=)	1277	COL1A1	Conflicting interpretations of pathogenicity	375695940	RCV000603235\|RCV002066833\|RCV002279442\|RCV002413768\|RCV002498987;	N	MedGen:CN169374\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MedGen:CN230736\|8 conditions	17	48270043	48270043	17:g.48270043G>A	ClinGen:CA8645023	CN169374 not specified;
NM_000088.4(COL1A1):c.1886del (p.Gly629fs)	1277	COL1A1	Pathogenic	66489346	RCV001385151;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48270044	48270044	48270043	-
NM_000088.4(COL1A1):c.1884T>C (p.Ala628=)	1277	COL1A1	Likely benign	-1	RCV002415376\|RCV003097326;	N	MedGen:CN230736\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48270046	48270046		-
NM_000088.4(COL1A1):c.1882G>A (p.Ala628Thr)	1277	COL1A1	Conflicting interpretations of pathogenicity	113950465	RCV000029561\|RCV000585102\|RCV001087782\|RCV002408480;	N	MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN230736	17	48270048	48270048	17:g.48270048C>T	ClinGen:CA260284	CN517202 not provided;
NM_000088.4(COL1A1):c.1881C>T (p.Pro627=)	1277	COL1A1	Likely benign	550265501	RCV000631504\|RCV002060716\|RCV002413800;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:C3661900\|MedGen:CN230736	17	48270049	48270049	NC_000017.10:g.48270049G>A	ClinGen:CA8645025	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.1876-1G>A	1277	COL1A1	Pathogenic	-1	RCV003050486;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48270055	48270055	NC_000017.10:g.48270055C>T	-
NM_000088.4(COL1A1):c.1876-2A>G	1277	COL1A1	Pathogenic	67891210	RCV001952620;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48270056	48270056	48270056	-
NM_000088.4(COL1A1):c.1876-3C>T	1277	COL1A1	Uncertain significance	989802421	RCV001295609;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48270057	48270057	48270057	-
NM_000088.4(COL1A1):c.1876-8C>T	1277	COL1A1	Uncertain significance	1329959391	RCV000631464;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48270062	48270062	17:g.48270062G>A	ClinGen:CA626485881	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.1876-10C>T	1277	COL1A1	Benign/Likely benign	370308401	RCV000952653\|RCV001593147\|RCV002279663;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:C3661900\|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000, Orphanet:98249	17	48270064	48270064	17:g.48270064G>A	-
NM_000088.4(COL1A1):c.1876-19T>C	1277	COL1A1	Likely benign	-1	RCV002942924;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48270073	48270073	NC_000017.10:g.48270073A>G	-
NM_000088.4(COL1A1):c.1875+8T>A	1277	COL1A1	Likely benign	756572885	RCV000423444\|RCV002063629;	N	MedGen:CN169374\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48270150	48270150	17:g.48270150A>T	ClinGen:CA8645053	CN169374 not specified;
NM_000088.4(COL1A1):c.1875+5G>C	1277	COL1A1	Conflicting interpretations of pathogenicity	886041866	RCV000263616\|RCV002519062;	N	MedGen:CN517202\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48270153	48270153	17:g.48270153C>G	ClinGen:CA10603456	CN517202 not provided;
NM_000088.4(COL1A1):c.1875+3G>T	1277	COL1A1	Conflicting interpretations of pathogenicity	138164489	RCV000989946\|RCV001726407\|RCV002409320;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:C3661900\|MedGen:CN230736	17	48270155	48270155	17:g.48270155C>A	-
NM_000088.4(COL1A1):c.1871del (p.Pro624fs)	1277	COL1A1	Pathogenic	-1	RCV002999374;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48270162	48270162	NC_000017.10:g.48270164del	-
NM_000088.4(COL1A1):c.1865dup (p.Gly623fs)	1277	COL1A1	Pathogenic	72651620	RCV001946600;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48270167	48270168	48270167	-
NM_000088.4(COL1A1):c.1862_1865del (p.Pro621fs)	1277	COL1A1	Pathogenic	72651620	RCV000539052\|RCV000722159;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666	17	48270168	48270171	NC_000017.10:g.48270169_48270172del	ClinGen:CA658656709	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.1861C>A (p.Pro621Thr)	1277	COL1A1	Conflicting interpretations of pathogenicity	764186905	RCV001341098\|RCV002261347;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN517202	17	48270172	48270172	48270172	-
NM_000088.4(COL1A1):c.1860del (p.Pro622fs)	1277	COL1A1	Pathogenic	2144564549	RCV001909749;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48270173	48270173	48270172	-
NM_000088.4(COL1A1):c.1853_1857del (p.Ala618fs)	1277	COL1A1	Pathogenic	1907212702	RCV001067373;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48270176	48270180	17:g.48270176_48270180del	-
NM_000088.4(COL1A1):c.1847del (p.Ala616fs)	1277	COL1A1	Pathogenic	2144564620	RCV001946780;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48270186	48270186	48270185	-
NM_000088.4(COL1A1):c.1838A>G (p.Asp613Gly)	1277	COL1A1	Conflicting interpretations of pathogenicity	-1	RCV002998655\|RCV003146711;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN517202	17	48270195	48270195	NC_000017.10:g.48270195T>C	-
NM_000088.4(COL1A1):c.1828G>A (p.Ala610Thr)	1277	COL1A1	Uncertain significance	1016862662	RCV001301719;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48270205	48270205	48270205	-
NM_000088.4(COL1A1):c.1828G>T (p.Ala610Ser)	1277	COL1A1	Uncertain significance	-1	RCV002603068;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48270205	48270205	NC_000017.10:g.48270205C>A	-
NM_000088.4(COL1A1):c.1822-1G>A	1277	COL1A1	Pathogenic	-1	RCV003021543;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48270212	48270212	NC_000017.10:g.48270212C>T	-
NM_000088.4(COL1A1):c.1821+11C>T	1277	COL1A1	Likely benign	-1	RCV003052786;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48270344	48270344	NC_000017.10:g.48270344G>A	-
NM_000088.4(COL1A1):c.1821+1G>A	1277	COL1A1	Pathogenic	66555264	RCV000490727\|RCV000599354\|RCV000763410\|RCV002221545\|RCV003403127;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:C3661900\|7 conditions\|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|	17	48270354	48270354	NC_000017.10:g.48270354C>T	OMIM:120150.0046,ClinGen:CA291544536	CN517202 not provided;
NM_000088.4(COL1A1):c.1821+1G>C	1277	COL1A1	Pathogenic	66555264	RCV000804013\|RCV000991250;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666	17	48270354	48270354	17:g.48270354C>G	-
NM_000088.4(COL1A1):c.1821+1G>T	1277	COL1A1	Pathogenic	66555264	RCV001051120;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48270354	48270354	17:g.48270354C>A	-
NM_000088.4(COL1A1):c.1821C>G (p.Val607=)	1277	COL1A1	Uncertain significance	41316667	RCV001345593;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48270355	48270355	48270355	-
NM_000088.4(COL1A1):c.1821del (p.Gly608fs)	1277	COL1A1	Pathogenic	2144565471	RCV001387405;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48270355	48270355	48270354	-
NM_000088.4(COL1A1):c.1816G>A (p.Ala606Thr)	1277	COL1A1	Likely benign	-1	RCV002640460;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48270360	48270360	NC_000017.10:g.48270360C>T	-
NM_000088.4(COL1A1):c.1815C>T (p.Gly605=)	1277	COL1A1	Likely benign	370384784	RCV001464392\|RCV001698473\|RCV002413770;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:C3661900\|MedGen:CN230736	17	48270361	48270361	17:g.48270361G>A	ClinGen:CA8645095	CN169374 not specified;
NM_000088.4(COL1A1):c.1815C>A (p.Gly605=)	1277	COL1A1	Likely benign	370384784	RCV001475055\|RCV002414144;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN230736	17	48270361	48270361	48270361	-
NM_000088.4(COL1A1):c.1812del (p.Gly605fs)	1277	COL1A1	Pathogenic/Likely pathogenic	193922143	RCV000029560\|RCV001807741\|RCV002470719\|RCV003415744;	N	MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MONDO:MONDO:0009804,MedGen:C0268362,OMIM:259420, Orphanet:216812, Orphanet:666\|	17	48270364	48270364	17:g.48270364_48270364del	ClinGen:CA260283	C0029434 Osteogenesis imperfecta;
NM_000088.4(COL1A1):c.1812T>C (p.Pro604=)	1277	COL1A1	Benign/Likely benign	151328660	RCV001712630\|RCV002413713\|RCV002529499;	N	MedGen:C3661900\|MedGen:CN230736\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48270364	48270364	17:g.48270364A>G	ClinGen:CA8645096	CN169374 not specified;
NM_000088.4(COL1A1):c.1811del (p.Pro604fs)	1277	COL1A1	Likely pathogenic	-1	RCV002466808;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48270365	48270365	NC_000017.10:g.48270369del	-
NM_000088.4(COL1A1):c.1811C>A (p.Pro604His)	1277	COL1A1	Benign	-1	RCV002975654;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48270365	48270365	NC_000017.10:g.48270365G>T	-
NM_000088.4(COL1A1):c.1810C>G (p.Pro604Ala)	1277	COL1A1	Uncertain significance	868525869	RCV001761289\|RCV001868541;	N	MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48270366	48270366	48270366	-
NM_000088.4(COL1A1):c.1804G>T (p.Gly602Ter)	1277	COL1A1	Pathogenic	72651615	RCV001387610\|RCV002283548;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MONDO:MONDO:0008148,MedGen:C0268363,OMIM:166220, Orphanet:216820, Orphanet:666	17	48270372	48270372	48270372	-
NM_000088.4(COL1A1):c.1803C>T (p.Pro601=)	1277	COL1A1	Benign/Likely benign	148275339	RCV000381981\|RCV000710760\|RCV001084005\|RCV001125668\|RCV001125669\|RCV001124660\|RCV002278318\|RCV002411173;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MONDO:MONDO:0007525,MedGen:C4551623,OMIM:130060, Orphanet:1899,Orphan	17	48270373	48270373	17:g.48270373G>A	ClinGen:CA8645098	CN169374 not specified;
NM_000088.4(COL1A1):c.1797del (p.Val600fs)	1277	COL1A1	Pathogenic	2144565641	RCV001387241;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48270379	48270379	48270378	-
NM_000088.4(COL1A1):c.1793G>A (p.Arg598Gln)	1277	COL1A1	Uncertain significance	757147791	RCV000631469\|RCV002413799;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN230736	17	48270383	48270383	17:g.48270383C>T	ClinGen:CA8645099	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.1792C>T (p.Arg598Ter)	1277	COL1A1	Pathogenic	72651614	RCV000490706\|RCV001555740\|RCV002283484\|RCV002279255;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:C3661900\|MONDO:MONDO:0008148,MedGen:C0268363,OMIM:166220, Orphanet:216820, Orphanet:666\|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666	17	48270384	48270384	17:g.48270384G>A	ClinGen:CA8645100	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.1787G>C (p.Gly596Ala)	1277	COL1A1	Likely pathogenic	-1	RCV003064468;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48270389	48270389	NC_000017.10:g.48270389C>G	-
NM_000088.4(COL1A1):c.1785T>A (p.Ala595=)	1277	COL1A1	Likely benign	780217716	RCV000422962\|RCV000898052\|RCV002411333;	N	MedGen:CN169374\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN230736	17	48270391	48270391	17:g.48270391A>T	ClinGen:CA8645103	CN169374 not specified;
NM_000088.4(COL1A1):c.1783G>T (p.Ala595Ser)	1277	COL1A1	Uncertain significance	376047287	RCV000818600;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48270393	48270393	17:g.48270393C>A	-
NM_000088.4(COL1A1):c.1783del (p.Ala595fs)	1277	COL1A1	Pathogenic	-1	RCV003034928;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48270393	48270393	NC_000017.10:g.48270394del	-
NM_000088.4(COL1A1):c.1778G>C (p.Gly593Ala)	1277	COL1A1	Pathogenic	72651613	RCV001982320;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48270398	48270398	48270398	-
NM_000088.4(COL1A1):c.1776C>T (p.Pro592=)	1277	COL1A1	Likely benign	777014529	RCV002096187\|RCV003365691;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN230736	17	48270400	48270400	48270400	-
NM_000088.4(COL1A1):c.1772_1773del (p.Glu591fs)	1277	COL1A1	Pathogenic	1555573484	RCV000549685;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48270403	48270404	NC_000017.10:g.48270404TC[1]	ClinGen:CA658656710	C0023931 166200 Osteogenesis imperfecta type I;
NC_000017.11:g.50193048del	1277	COL1A1	Pathogenic	-1	RCV003014709;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48270407	48270407		-
NM_000088.4(COL1A1):c.1768-1G>A	1277	COL1A1	Pathogenic	72648370	RCV001039589\|RCV001564365;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN517202	17	48270409	48270409	17:g.48270409C>T	-
NM_000088.4(COL1A1):c.1768-8C>T	1277	COL1A1	Conflicting interpretations of pathogenicity	193922142	RCV000029559\|RCV000872415\|RCV001125670\|RCV001125671\|RCV001703422\|RCV002251930;	N	MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MONDO:MONDO:0007244,MedGen:C0020497,OMIM:114000, Orphanet:1310\|MONDO:MONDO:0007525,MedGen:C4551623,OM	17	48270416	48270416	17:g.48270416G>A	ClinGen:CA260282	CN169374 not specified;
NM_000088.4(COL1A1):c.1768-9T>C	1277	COL1A1	Likely benign	2144565853	RCV001433851;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48270417	48270417	48270417	-
NM_000088.4(COL1A1):c.1768-12C>G	1277	COL1A1	Likely benign	-1	RCV002834783;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48270420	48270420	NC_000017.10:g.48270420G>C	-
NM_000088.4(COL1A1):c.1768-20C>G	1277	COL1A1	Uncertain significance	1907245660	RCV001966106;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48270428	48270428	48270428	-
NM_000088.4(COL1A1):c.1767+3_1767+6del	1277	COL1A1	Uncertain significance	886042301	RCV000365888\|RCV002521875;	N	MedGen:CN517202\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48271298	48271301	17:g.48271298_48271301del	ClinGen:CA10604057	CN169374 not specified;
NM_000088.4(COL1A1):c.1767+1G>A	1277	COL1A1	Pathogenic	2144569036	RCV001886252;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48271303	48271303	48271303	-
NM_000088.4(COL1A1):c.1764T>C (p.Ala588=)	1277	COL1A1	Likely benign	1800212	RCV001410945;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48271307	48271307	48271307	-
NM_000088.4(COL1A1):c.1763C>A (p.Ala588Asp)	1277	COL1A1	Uncertain significance	771593907	RCV001225681;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48271308	48271308	17:g.48271308G>T	-
NM_000088.4(COL1A1):c.1756A>G (p.Lys586Glu)	1277	COL1A1	Uncertain significance	1321629414	RCV001921079;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48271315	48271315	48271315	-
NM_000088.4(COL1A1):c.1748C>G (p.Pro583Arg)	1277	COL1A1	Uncertain significance	1401682206	RCV001060685\|RCV001814263;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN517202	17	48271323	48271323	17:g.48271323G>C	-
NM_000088.4(COL1A1):c.1736T>C (p.Val579Ala)	1277	COL1A1	Uncertain significance	-1	RCV002711126;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48271335	48271335	NC_000017.10:g.48271335A>G	-
NM_000088.4(COL1A1):c.1732G>A (p.Gly578Ser)	1277	COL1A1	Likely pathogenic	1907330109	RCV001054858\|RCV003117728;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666	17	48271339	48271339	17:g.48271339C>T	-
NM_000088.4(COL1A1):c.1728G>A (p.Gln576=)	1277	COL1A1	Conflicting interpretations of pathogenicity	1410003274	RCV002046407\|RCV003365670;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN230736	17	48271343	48271343	48271343	-
NM_000088.4(COL1A1):c.1721G>A (p.Arg574His)	1277	COL1A1	Uncertain significance	763788602	RCV001245995;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48271350	48271350	17:g.48271350C>T	-
NM_000088.4(COL1A1):c.1720del (p.Arg574fs)	1277	COL1A1	Pathogenic	1555573621	RCV000507362\|RCV001389862;	N	MedGen:CN169374\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48271351	48271351	NC_000017.10:g.48271353del	ClinGen:CA645509527	CN169374 not specified;
NM_000088.4(COL1A1):c.1713_1720del (p.Gly572fs)	1277	COL1A1	Pathogenic	1907332311	RCV001201519;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48271351	48271358	17:g.48271351_48271358del	-
NM_000088.4(COL1A1):c.1703del (p.Pro568fs)	1277	COL1A1	Pathogenic	1555573629	RCV000631465;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48271368	48271368	17:g.48271368_48271368del	ClinGen:CA658798895	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.1695del (p.Gly566fs)	1277	COL1A1	Pathogenic	-1	RCV003022394;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48271376	48271376	NC_000017.10:g.48271379del	-
NM_000088.4(COL1A1):c.1694C>T (p.Pro565Leu)	1277	COL1A1	Conflicting interpretations of pathogenicity	764989002	RCV001561842\|RCV001859393;	N	MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48271377	48271377	48271377	-
NM_000088.4(COL1A1):c.1693C>A (p.Pro565Thr)	1277	COL1A1	Likely benign	750241688	RCV000696544;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48271378	48271378	17:g.48271378G>T	-	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.1691G>A (p.Arg564His)	1277	COL1A1	Conflicting interpretations of pathogenicity	1800211	RCV000659352\|RCV001125672\|RCV001125674\|RCV001125673\|RCV001508818\|RCV002279235\|RCV002413314;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MONDO:MONDO:0007244,MedGen:C0020497,OMIM:114000, Orphanet:1310\|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MONDO:MONDO:0007525,MedGen:C4551623,OM	17	48271380	48271380	17:g.48271380C>T	ClinGen:CA8645135	CN169374 not specified;
NM_000088.4(COL1A1):c.1689T>C (p.Gly563=)	1277	COL1A1	Likely benign	1555573640	RCV000541759;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48271382	48271382	17:g.48271382A>G	ClinGen:CA500848524	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.1678G>A (p.Gly560Ser)	1277	COL1A1	Pathogenic	67507747	RCV000255844\|RCV000293333\|RCV000722158\|RCV002278251;	N	MedGen:CN517202\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000, Orphanet:98249	17	48271393	48271393	17:g.48271393C>T	ClinGen:CA10588664	CN517202 not provided;
NM_000088.4(COL1A1):c.1678G>T (p.Gly560Cys)	1277	COL1A1	Pathogenic/Likely pathogenic	67507747	RCV000631487\|RCV003139957\|RCV003411495;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:C3661900\|	17	48271393	48271393	NC_000017.10:g.48271393C>A	ClinGen:CA291545054	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.1677C>T (p.Ala559=)	1277	COL1A1	Likely benign	755073295	RCV001502289;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48271394	48271394	48271394	-
NM_000088.4(COL1A1):c.1675G>A (p.Ala559Thr)	1277	COL1A1	Conflicting interpretations of pathogenicity	558173513	RCV001219681\|RCV001587241\|RCV002276664;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:C3661900\|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666	17	48271396	48271396	17:g.48271396C>T	-
NM_000088.4(COL1A1):c.1674C>T (p.Pro558=)	1277	COL1A1	Likely benign	578167693	RCV001653152\|RCV002073054\|RCV002405273;	N	MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN230736	17	48271397	48271397	48271397	-
NM_000088.4(COL1A1):c.1669-17G>A	1277	COL1A1	Likely benign	367662814	RCV002097304;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48271419	48271419	48271419	-
NM_000088.4(COL1A1):c.1668+16C>T	1277	COL1A1	Benign/Likely benign	41316659	RCV000417938\|RCV002060034;	N	MedGen:CN169374\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48271475	48271475	17:g.48271475G>A	ClinGen:CA8645157	CN169374 not specified;
NM_000088.4(COL1A1):c.1668+13C>G	1277	COL1A1	Likely benign	1907346296	RCV002126836;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48271478	48271478	48271478	-
NM_000088.4(COL1A1):c.1667dup (p.Gly557fs)	1277	COL1A1	Pathogenic	1351742344	RCV001939550;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48271491	48271492	48271491	-
NM_000088.4(COL1A1):c.1667del (p.Pro556fs)	1277	COL1A1	Pathogenic	1351742344	RCV001931651\|RCV002503654;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|8 conditions	17	48271492	48271492	48271491	-
NM_000088.4(COL1A1):c.1667C>T (p.Pro556Leu)	1277	COL1A1	Uncertain significance	778151591	RCV001977303;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48271492	48271492	48271492	-
NM_000088.4(COL1A1):c.1664C>G (p.Pro555Arg)	1277	COL1A1	Conflicting interpretations of pathogenicity	72648359	RCV001756582\|RCV002032772\|RCV003365443;	N	MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN230736	17	48271495	48271495	48271495	-
NM_000088.4(COL1A1):c.1654A>T (p.Lys552Ter)	1277	COL1A1	Pathogenic	1567759402	RCV000704376;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48271505	48271505	17:g.48271505T>A	-	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.1653C>G (p.Gly551=)	1277	COL1A1	Likely benign	-1	RCV002690746;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48271506	48271506		-
NC_000017.10:g.(?_48271508)_(48278605_?)dup	1277	COL1A1	Pathogenic	-1	RCV000546229;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48271508	48278605		-	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.1644T>A (p.Gly548=)	1277	COL1A1	Likely benign	1312778967	RCV002146506;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48271515	48271515	48271515	-
NM_000088.4(COL1A1):c.1641T>G (p.Pro547=)	1277	COL1A1	Likely benign	775965149	RCV002125292\|RCV002400340;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN230736	17	48271518	48271518	48271518	-
NM_000088.4(COL1A1):c.1638C>T (p.Ser546=)	1277	COL1A1	Benign/Likely benign	146450504	RCV000603957\|RCV000953856\|RCV002404653;	N	MedGen:CN169374\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN230736	17	48271521	48271521	17:g.48271521G>A	ClinGen:CA8645167	CN169374 not specified;
NM_000088.4(COL1A1):c.1629C>T (p.Ser543=)	1277	COL1A1	Likely benign	-1	RCV002401213\|RCV003121005;	N	MedGen:CN230736\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48271530	48271530		-
NM_000088.4(COL1A1):c.1621A>G (p.Thr541Ala)	1277	COL1A1	Conflicting interpretations of pathogenicity	766204229	RCV000597522\|RCV001860172;	N	MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48271538	48271538	17:g.48271538T>C	ClinGen:CA8645171	CN169374 not specified;
NM_000088.4(COL1A1):c.1620G>C (p.Leu540=)	1277	COL1A1	Likely benign	-1	RCV003040730;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48271539	48271539		-
NM_000088.4(COL1A1):c.1615-1G>A	1277	COL1A1	Pathogenic	-1	RCV003044967;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48271545	48271545	NC_000017.10:g.48271545C>T	-
NM_000088.4(COL1A1):c.1615-16C>T	1277	COL1A1	Likely benign	2144570402	RCV002202393;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48271560	48271560	48271560	-
NC_000017.10:g.(?_48271690)_(48277328_?)dup	1277	COL1A1	Likely pathogenic	-1	RCV001983708;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48271690	48277328	-1	-
NM_000088.4(COL1A1):c.1614+18C>T	1277	COL1A1	Likely benign	923054762	RCV002098071;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48271692	48271692	48271692	-
NM_000088.4(COL1A1):c.1614+2T>A	1277	COL1A1	Pathogenic	1598295482	RCV000813208;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48271708	48271708	17:g.48271708A>T	-
NM_000088.4(COL1A1):c.1614+1G>C	1277	COL1A1	Pathogenic	72648357	RCV000710758\|RCV001229746;	N	MedGen:CN517202\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48271709	48271709	NC_000017.10:g.48271709C>G	-
NM_000088.4(COL1A1):c.1614+1G>A	1277	COL1A1	Pathogenic	72648357	RCV001387571\|RCV001526509;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MONDO:MONDO:0008159,MedGen:C0029458	17	48271709	48271709	48271709	-
NM_000088.4(COL1A1):c.1614G>C (p.Lys538Asn)	1277	COL1A1	Uncertain significance	770596593	RCV001936333;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48271710	48271710	48271710	-
NM_000088.4(COL1A1):c.1611del (p.Lys538fs)	1277	COL1A1	Pathogenic	1114167387	RCV000490734;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48271713	48271713	NC_000017.10:g.48271714del	ClinGen:CA645294109	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.1605_1611del (p.Gly536fs)	1277	COL1A1	Pathogenic	-1	RCV002881466;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48271713	48271719	NC_000017.10:g.48271717_48271723del	-
NM_000088.4(COL1A1):c.1588G>A (p.Gly530Ser)	1277	COL1A1	Pathogenic	67682641	RCV000018865\|RCV000548768\|RCV003327362;	N	MONDO:MONDO:0009804,MedGen:C0268362,OMIM:259420, Orphanet:216812, Orphanet:666\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:C3661900	17	48271736	48271736	17:g.48271736C>T	OMIM:120150.0042,ClinGen:CA257887	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.1588G>T (p.Gly530Cys)	1277	COL1A1	Pathogenic	67682641	RCV001914424;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48271736	48271736	48271736	-
NM_000088.4(COL1A1):c.1587C>T (p.Pro529=)	1277	COL1A1	Benign/Likely benign	113437353	RCV000536271\|RCV001696931\|RCV002404378;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:C3661900\|MedGen:CN230736	17	48271737	48271737	17:g.48271737G>A	ClinGen:CA8645191	CN169374 not specified;
NM_000088.4(COL1A1):c.1583G>A (p.Arg528His)	1277	COL1A1	Conflicting interpretations of pathogenicity	144751329	RCV000755939\|RCV000989947\|RCV002399338\|RCV003323365;	N	MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN230736\|MedGen:CN169374	17	48271741	48271741	NC_000017.10:g.48271741C>T	ClinGen:CA260278	C0029434 Osteogenesis imperfecta;
NM_000088.4(COL1A1):c.1567_1569del (p.Pro523del)	1277	COL1A1	Uncertain significance	1907377085	RCV001048881;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48271755	48271757	17:g.48271755_48271757del	-
NM_000088.4(COL1A1):c.1562del (p.Gly521fs)	1277	COL1A1	Pathogenic	1907377731	RCV001047662;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48271762	48271762	17:g.48271762_48271762del	-
NM_000088.4(COL1A1):c.1559A>G (p.Lys520Arg)	1277	COL1A1	Uncertain significance	2144571197	RCV001968015;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48271765	48271765	48271765	-
NM_000088.4(COL1A1):c.1557C>T (p.Pro519=)	1277	COL1A1	Likely benign	753993330	RCV001485113;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48271767	48271767	17:g.48271767G>A	-
NM_000088.4(COL1A1):c.1557del (p.Gly521fs)	1277	COL1A1	Pathogenic	-1	RCV002914064;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48271767	48271767	NC_000017.10:g.48271770del	-
NM_000088.4(COL1A1):c.1550C>T (p.Ala517Val)	1277	COL1A1	Uncertain significance	1907378945	RCV001212603;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48271774	48271774	17:g.48271774G>A	-
NM_000088.4(COL1A1):c.1540C>T (p.Pro514Ser)	1277	COL1A1	Uncertain significance	753739947	RCV001371763;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48271784	48271784	48271784	-
NM_000088.4(COL1A1):c.1532G>A (p.Arg511His)	1277	COL1A1	Conflicting interpretations of pathogenicity	780422688	RCV001774794\|RCV002272492;	N	MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48271792	48271792	48271792	-
NM_000088.4(COL1A1):c.1532G>T (p.Arg511Leu)	1277	COL1A1	Uncertain significance	-1	RCV002634694;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48271792	48271792	NC_000017.10:g.48271792C>A	-
NM_000088.4(COL1A1):c.1531C>T (p.Arg511Cys)	1277	COL1A1	Uncertain significance	1478682303	RCV001938255;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48271793	48271793	48271793	-
NM_000088.4(COL1A1):c.1522G>A (p.Ala508Thr)	1277	COL1A1	Conflicting interpretations of pathogenicity	752150906	RCV001343148\|RCV001762577;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN517202	17	48271802	48271802	48271802	-
NM_000088.4(COL1A1):c.1517G>A (p.Gly506Asp)	1277	COL1A1	Likely pathogenic	-1	RCV002863357;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48271807	48271807	NC_000017.10:g.48271807C>T	-
NM_000088.4(COL1A1):c.1516-1G>A	1277	COL1A1	Likely pathogenic	72648352	RCV000560259;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48271809	48271809	17:g.48271809C>T	ClinGen:CA400217030	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.1516-6A>C	1277	COL1A1	Likely benign	-1	RCV002592072;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48271814	48271814	NC_000017.10:g.48271814T>G	-
NM_000088.4(COL1A1):c.1516-7C>T	1277	COL1A1	Likely benign	748830899	RCV002091536;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48271815	48271815	48271815	-
NM_000088.4(COL1A1):c.1516-9C>T	1277	COL1A1	Likely benign	369076517	RCV002117415;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48271817	48271817	48271817	-
NM_000088.4(COL1A1):c.1516-14C>T	1277	COL1A1	Likely benign	1437177152	RCV002078585;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48271822	48271822	48271822	-
NM_000088.4(COL1A1):c.1515+20G>A	1277	COL1A1	Conflicting interpretations of pathogenicity	373728987	RCV000612008\|RCV001855216;	N	MedGen:CN169374\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48271914	48271914	17:g.48271914C>T	ClinGen:CA8645224	CN169374 not specified;
NM_000088.4(COL1A1):c.1515+19dup	1277	COL1A1	Likely benign	-1	RCV002625013;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48271914	48271915	NC_000017.10:g.48271916dup	-
NM_000088.4(COL1A1):c.1515+17G>A	1277	COL1A1	Likely benign	778395663	RCV002150613;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48271917	48271917	48271917	-
NM_000088.4(COL1A1):c.1515+16G>A	1277	COL1A1	Uncertain significance	745582193	RCV001908689;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48271918	48271918	48271918	-
NM_000088.4(COL1A1):c.1515+15C>T	1277	COL1A1	Likely benign	758006385	RCV002118325;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48271919	48271919	48271919	-
NM_000088.4(COL1A1):c.1515+10C>G	1277	COL1A1	Likely benign	2144571923	RCV001481099;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48271924	48271924	48271924	-
NM_000088.4(COL1A1):c.1508G>C (p.Gly503Ala)	1277	COL1A1	Pathogenic	-1	RCV003112385;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48271941	48271941	NC_000017.10:g.48271941C>G	-
NM_000088.4(COL1A1):c.1497T>C (p.Asp499=)	1277	COL1A1	Likely benign	-1	RCV002927840;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48271952	48271952		-
NM_000088.4(COL1A1):c.1492G>A (p.Ala498Thr)	1277	COL1A1	Uncertain significance	1051473344	RCV001058869\|RCV001121991\|RCV001121992\|RCV001090964\|RCV001121993\|RCV002393283;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MONDO:MONDO:0007244,MedGen:C0020497,OMIM:114000, Orphanet:1310\|MedGen:C3661900\|MONDO:MONDO:0007525,Me	17	48271957	48271957	17:g.48271957C>T	-
NM_000088.4(COL1A1):c.1491C>T (p.Gly497=)	1277	COL1A1	Likely benign	773286290	RCV003355472\|RCV001430974\|RCV001581128;	N	MedGen:CN230736\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:C3661900	17	48271958	48271958	48271958	-
NM_000088.4(COL1A1):c.1478G>A (p.Arg493His)	1277	COL1A1	Uncertain significance	-1	RCV002666990;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48271971	48271971	NC_000017.10:g.48271971C>T	-
NM_000088.4(COL1A1):c.1471G>A (p.Gly491Ser)	1277	COL1A1	Pathogenic	72648348	RCV001942481;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48271978	48271978	48271978	-
NM_000088.4(COL1A1):c.1462G>A (p.Gly488Ser)	1277	COL1A1	Pathogenic/Likely pathogenic	1328384458	RCV000521607\|RCV000547846;	N	MedGen:CN517202\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48271987	48271987	17:g.48271987C>T	ClinGen:CA400217541	CN517202 not provided;
NM_000088.4(COL1A1):c.1462-3C>A	1277	COL1A1	Uncertain significance	2144572314	RCV001899990\|RCV003407858;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|	17	48271990	48271990	48271990	-
NM_000088.4(COL1A1):c.1462-19G>A	1277	COL1A1	Likely benign	-1	RCV002632328;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48272006	48272006	NC_000017.10:g.48272006C>T	-
NC_000017.11:g.(?_50194701)_(50203629_?)del	1277	COL1A1	Pathogenic	-1	RCV001033746;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48272062	48280990	-1	-
NM_000088.4(COL1A1):c.1461+16C>T	1277	COL1A1	Benign	41316648	RCV002118156;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48272066	48272066	48272066	-
NM_000088.4(COL1A1):c.1461+7G>A	1277	COL1A1	Likely benign	374268357	RCV000535391;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48272075	48272075	NC_000017.10:g.48272075C>T	ClinGen:CA8645251	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.1461+2T>G	1277	COL1A1	Likely pathogenic	1907417140	RCV001262604;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48272080	48272080	17:g.48272080A>C	-
NM_000088.4(COL1A1):c.1461+1G>T	1277	COL1A1	Pathogenic	-1	RCV002891195;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48272081	48272081	NC_000017.10:g.48272081C>A	-
NM_000088.4(COL1A1):c.1460G>A (p.Arg487His)	1277	COL1A1	Uncertain significance	2144572836	RCV001359432;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48272083	48272083	48272083	-
NM_000088.4(COL1A1):c.1455C>T (p.Gly485=)	1277	COL1A1	Likely benign	-1	RCV003042281;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48272088	48272088		-
NM_000088.4(COL1A1):c.1454G>C (p.Gly485Ala)	1277	COL1A1	Pathogenic	1907418203	RCV001071028;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48272089	48272089	17:g.48272089C>G	-
NM_000088.4(COL1A1):c.1452del (p.Gly485fs)	1277	COL1A1	Pathogenic	72648346	RCV000733766\|RCV001868989;	N	MedGen:CN517202\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48272091	48272091	NC_000017.10:g.48272091del	-
NM_000088.4(COL1A1):c.1451del (p.Pro484fs)	1277	COL1A1	Pathogenic	2144572928	RCV001388122;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48272092	48272092	48272091	-
NM_000088.4(COL1A1):c.1450C>T (p.Pro484Ser)	1277	COL1A1	Conflicting interpretations of pathogenicity	-1	RCV002914601\|RCV003443091;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:C3661900	17	48272093	48272093	NC_000017.10:g.48272093G>A	-
NM_000088.4(COL1A1):c.1448C>A (p.Pro483His)	1277	COL1A1	Likely benign	-1	RCV002751607;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48272095	48272095	NC_000017.10:g.48272095G>T	-
NM_000088.4(COL1A1):c.1444G>C (p.Gly482Arg)	1277	COL1A1	Pathogenic	-1	RCV003010240;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48272099	48272099	NC_000017.10:g.48272099C>G	-
NM_000088.4(COL1A1):c.1443C>G (p.Pro481=)	1277	COL1A1	Likely benign	770169695	RCV000938435\|RCV001409555;	N	MedGen:CN517202\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48272100	48272100	17:g.48272100G>C	-
NM_000088.4(COL1A1):c.1426_1427dup (p.Pro477fs)	1277	COL1A1	Pathogenic	2144573120	RCV001893320;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48272115	48272116	48272115	-
NM_000088.4(COL1A1):c.1427G>T (p.Gly476Val)	1277	COL1A1	Likely pathogenic	-1	RCV002466865;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48272116	48272116	NC_000017.10:g.48272116C>A	-
NM_000088.4(COL1A1):c.1423C>A (p.Pro475Thr)	1277	COL1A1	Uncertain significance	1394634754	RCV000559356\|RCV002395293;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN230736	17	48272120	48272120	17:g.48272120G>T	ClinGen:CA400217743	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.1414C>T (p.Arg472Ter)	1277	COL1A1	Pathogenic	72648343	RCV000523564\|RCV000803118;	N	MedGen:CN517202\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48272129	48272129	17:g.48272129G>A	ClinGen:CA291545471	CN517202 not provided;
NM_000088.4(COL1A1):c.1412C>G (p.Ala471Gly)	1277	COL1A1	Uncertain significance	978893604	RCV001934294;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48272131	48272131	48272131	-
NM_000088.4(COL1A1):c.1398_1410del (p.Gly467fs)	1277	COL1A1	Pathogenic	2144573246	RCV001932988;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48272133	48272145	48272132	-
NM_000088.4(COL1A1):c.1406G>A (p.Arg469Gln)	1277	COL1A1	Uncertain significance	-1	RCV003092463;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48272137	48272137	NC_000017.10:g.48272137C>T	-
NM_000088.4(COL1A1):c.1405C>T (p.Arg469Ter)	1277	COL1A1	Pathogenic	762428889	RCV000254741\|RCV000818022;	N	MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48272138	48272138	17:g.48272138G>A	ClinGen:CA10588665	CN517202 not provided;
NM_000088.4(COL1A1):c.1405C>A (p.Arg469=)	1277	COL1A1	Likely benign	762428889	RCV001463064\|RCV002390866;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN230736	17	48272138	48272138	17:g.48272138G>T	-
NM_000088.4(COL1A1):c.1404G>A (p.Lys468=)	1277	COL1A1	Likely benign	1240489656	RCV001408643\|RCV002395923;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN230736	17	48272139	48272139	48272139	-
NM_000088.4(COL1A1):c.1400G>C (p.Gly467Ala)	1277	COL1A1	Pathogenic	-1	RCV003055033;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48272143	48272143	NC_000017.10:g.48272143C>G	-
NM_000088.4(COL1A1):c.1395G>A (p.Glu465=)	1277	COL1A1	Likely benign	1308484700	RCV001432323;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48272148	48272148	17:g.48272148C>T	-
NM_000088.4(COL1A1):c.1394del (p.Glu465fs)	1277	COL1A1	Pathogenic	1567760123	RCV000704512;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48272149	48272149	17:g.48272149_48272149del	-	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.1393G>T (p.Glu465Ter)	1277	COL1A1	Pathogenic	865999256	RCV000529907;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48272150	48272150	NC_000017.10:g.48272150C>A	ClinGen:CA291546319	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.1387G>A (p.Ala463Thr)	1277	COL1A1	Uncertain significance	1555573895	RCV000659350\|RCV001855387;	N	MONDO:MONDO:0003900,MedGen:C0009782\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48272156	48272156	17:g.48272156C>T	-	C0009782 Connective tissue disorder;
NM_000088.4(COL1A1):c.1382del (p.Gly461fs)	1277	COL1A1	Pathogenic	1555573897	RCV000631462;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48272161	48272161	17:g.48272161_48272161del	ClinGen:CA658798898	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.1380T>A (p.Pro460=)	1277	COL1A1	Likely benign	1237735571	RCV001866524;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48272163	48272163	48272163	-
NM_000088.4(COL1A1):c.1379del (p.Pro460fs)	1277	COL1A1	Pathogenic	1114167377	RCV000490698;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48272164	48272164	17:g.48272164_48272164del	ClinGen:CA645294110	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.1378C>T (p.Pro460Ser)	1277	COL1A1	Uncertain significance	945417737	RCV001964760;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48272165	48272165	48272165	-
NM_000088.4(COL1A1):c.1375C>A (p.Pro459Thr)	1277	COL1A1	Uncertain significance	751299130	RCV000422156\|RCV000631495\|RCV000765371;	N	MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|7 conditions	17	48272168	48272168	17:g.48272168G>T	ClinGen:CA8645265	CN169374 not specified;
NM_000088.4(COL1A1):c.1375C>T (p.Pro459Ser)	1277	COL1A1	Likely benign	-1	RCV002766055;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48272168	48272168	NC_000017.10:g.48272168G>A	-
NM_000088.4(COL1A1):c.1369C>T (p.Gln457Ter)	1277	COL1A1	Pathogenic	1228746935	RCV000631482\|RCV001555220;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN517202	17	48272174	48272174	17:g.48272174G>A	ClinGen:CA400218459	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.1354-6_1359del	1277	COL1A1	Likely pathogenic	-1	RCV002903410;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48272184	48272195	NC_000017.10:g.48272190_48272201del	-
NC_000017.11:g.50194829del	1277	COL1A1	Pathogenic	1165573890	RCV001999858;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48272188	48272188		-
NM_000088.4(COL1A1):c.1354-8del	1277	COL1A1	Conflicting interpretations of pathogenicity	765450816	RCV001443497\|RCV002276736;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000, Orphanet:98249	17	48272197	48272197	48272196	-
NM_000088.4(COL1A1):c.1354-12G>A	1277	COL1A1	Pathogenic	72648337	RCV000413747\|RCV000490653;	N	MedGen:CN517202\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48272201	48272201	17:g.48272201C>T	ClinGen:CA16042996	CN517202 not provided;
NM_000088.4(COL1A1):c.1354-13C>A	1277	COL1A1	Uncertain significance	372034810	RCV002013169;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48272202	48272202	48272202	-
NM_000088.4(COL1A1):c.1354-13C>T	1277	COL1A1	Likely benign	372034810	RCV002075224;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48272202	48272202	48272202	-
NC_000017.10:g.(?_48272388)_(48277328_?)del	1277	COL1A1	Pathogenic	-1	RCV000556502;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48272388	48277328		-	C0023931 166200 Osteogenesis imperfecta type I;
NC_000017.10:g.(?_48272388)_(48278874_?)del	1277	COL1A1	Pathogenic	-1	RCV001872273;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48272388	48278874	-1	-
NM_000088.4(COL1A1):c.1353+12C>T	1277	COL1A1	Likely benign	-1	RCV002726546;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48272396	48272396	NC_000017.10:g.48272396G>A	-
NM_000088.4(COL1A1):c.1351C>G (p.Pro451Ala)	1277	COL1A1	Uncertain significance	1907454557	RCV001324233;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48272410	48272410	48272410	-
NM_000088.4(COL1A1):c.1348G>C (p.Glu450Gln)	1277	COL1A1	Uncertain significance	896085870	RCV001207280;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48272413	48272413	17:g.48272413C>G	-
NM_000088.4(COL1A1):c.1347A>G (p.Gly449=)	1277	COL1A1	Likely benign	757237837	RCV001652985\|RCV002386495\|RCV002073048;	N	MedGen:C3661900\|MedGen:CN230736\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48272414	48272414	48272414	-
NM_000088.4(COL1A1):c.1341T>A (p.Ala447=)	1277	COL1A1	Benign/Likely benign	-1	RCV002387731\|RCV003095001;	N	MedGen:CN230736\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48272420	48272420		-
NM_000088.4(COL1A1):c.1335_1336del (p.Gly446fs)	1277	COL1A1	Pathogenic	1907456419	RCV001237416;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48272425	48272426	17:g.48272425_48272426del	-
NM_000088.4(COL1A1):c.1305del (p.Glu435fs)	1277	COL1A1	Pathogenic	1907457376	RCV001048130;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48272456	48272456	17:g.48272456_48272456del	-
NM_000088.4(COL1A1):c.1301G>C (p.Gly434Ala)	1277	COL1A1	Likely pathogenic	72648333	RCV001070529;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48272460	48272460	17:g.48272460C>G	-
NM_000088.4(COL1A1):c.1300-1G>A	1277	COL1A1	Pathogenic	-1	RCV003064469;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48272462	48272462	NC_000017.10:g.48272462C>T	-
NM_000088.4(COL1A1):c.1300-12dup	1277	COL1A1	Benign/Likely benign	776544779	RCV001521312\|RCV001580599;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:C3661900	17	48272467	48272468	48272467	-
NM_000088.4(COL1A1):c.1300-8C>A	1277	COL1A1	Likely benign	41317361	RCV002212329;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48272469	48272469	48272469	-
NM_000088.4(COL1A1):c.1300-9C>T	1277	COL1A1	Likely benign	780311548	RCV000439809\|RCV001394062;	N	MedGen:CN169374\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48272470	48272470	17:g.48272470G>A	ClinGen:CA8645294	CN169374 not specified;
NM_000088.4(COL1A1):c.1300-9C>A	1277	COL1A1	Likely benign	-1	RCV002647951;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48272470	48272470	NC_000017.10:g.48272470G>T	-
NM_000088.4(COL1A1):c.1299+5G>A	1277	COL1A1	Pathogenic/Likely pathogenic	193922139	RCV000029555\|RCV000688895\|RCV002381264;	N	MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN230736	17	48272588	48272588	17:g.48272588C>T	ClinGen:CA260274	C0029434 Osteogenesis imperfecta;
NM_000088.4(COL1A1):c.1299+1G>C	1277	COL1A1	Pathogenic	66490707	RCV000018887\|RCV000018888;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MONDO:MONDO:0008148,MedGen:C0268363,OMIM:166220, Orphanet:216820, Orphanet:666	17	48272592	48272592	NC_000017.10:g.48272592C>G	OMIM:120150.0062	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.1299+1G>A	1277	COL1A1	Pathogenic	66490707	RCV000490723\|RCV000763411\|RCV001527971;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|7 conditions\|MedGen:C3661900	17	48272592	48272592	NC_000017.10:g.48272592C>T	ClinGen:CA291546594	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.1299C>T (p.Ser433=)	1277	COL1A1	Uncertain significance	776229611	RCV000700335;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48272593	48272593	17:g.48272593G>A	-	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.1293T>C (p.Gly431=)	1277	COL1A1	Likely benign	1907475173	RCV002184198;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48272599	48272599	48272599	-
NM_000088.4(COL1A1):c.1292del (p.Gly431fs)	1277	COL1A1	Pathogenic	1114167375	RCV000490684;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48272600	48272600	NC_000017.10:g.48272602del	ClinGen:CA645294111	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.1284_1291dup (p.Gly431fs)	1277	COL1A1	Pathogenic	2144575412	RCV001947880;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48272600	48272601	48272600	-
NM_000088.4(COL1A1):c.1290G>A (p.Lys430=)	1277	COL1A1	Uncertain significance	-1	RCV002696203;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48272602	48272602		-
NM_000088.4(COL1A1):c.1287C>T (p.Pro429=)	1277	COL1A1	Likely benign	-1	RCV002944051;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48272605	48272605		-
NM_000088.4(COL1A1):c.1273G>A (p.Gly425Ser)	1277	COL1A1	Pathogenic	72648330	RCV000801597\|RCV001788353\|RCV001575653;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MONDO:MONDO:0009804,MedGen:C0268362,OMIM:259420, Orphanet:216812, Orphanet:666\|MedGen:C3661900	17	48272619	48272619	17:g.48272619C>T	-
NM_000088.4(COL1A1):c.1270G>A (p.Gly424Ser)	1277	COL1A1	Uncertain significance	750427423	RCV001207893\|RCV001310369;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:C3661900	17	48272622	48272622	17:g.48272622C>T	-
NM_000088.4(COL1A1):c.1269dup (p.Gly424fs)	1277	COL1A1	Pathogenic	1114167374	RCV001887151;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48272622	48272623	48272622	-
NM_000088.4(COL1A1):c.1269del (p.Gly424fs)	1277	COL1A1	Pathogenic	1114167374	RCV000490659;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48272623	48272623	17:g.48272623_48272623del	ClinGen:CA645294112	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.1269C>T (p.Pro423=)	1277	COL1A1	Conflicting interpretations of pathogenicity	149301001	RCV000553010\|RCV001084966\|RCV001125754\|RCV001125753\|RCV001125755\|RCV002279326\|RCV002448621;	N	MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MONDO:MONDO:0007525,MedGen:C4551623,OMIM:130060, Orphanet:1899, Orphanet:99875, Orphanet:99876\|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200,Orpha	17	48272623	48272623	NC_000017.10:g.48272623G>A	ClinGen:CA8645328	CN169374 not specified;
NM_000088.4(COL1A1):c.1268C>T (p.Pro423Leu)	1277	COL1A1	Likely benign	-1	RCV002592451;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48272624	48272624	NC_000017.10:g.48272624G>A	-
NM_000088.4(COL1A1):c.1261del (p.Gln421fs)	1277	COL1A1	Pathogenic	1114167385	RCV000490680;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48272631	48272631	17:g.48272631_48272631del	ClinGen:CA645294113	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.1261C>T (p.Gln421Ter)	1277	COL1A1	Pathogenic	1598296825	RCV000822393;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48272631	48272631	17:g.48272631G>A	-
NM_000088.4(COL1A1):c.1259C>G (p.Pro420Arg)	1277	COL1A1	Conflicting interpretations of pathogenicity	-1	RCV002427997\|RCV003099871;	N	MedGen:CN230736\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48272633	48272633	48272633	-
NM_000088.4(COL1A1):c.1259C>T (p.Pro420Leu)	1277	COL1A1	Uncertain significance	-1	RCV002581748;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48272633	48272633	NC_000017.10:g.48272633G>A	-
NM_000088.4(COL1A1):c.1251C>T (p.Pro417=)	1277	COL1A1	Likely benign	-1	RCV002770423;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48272641	48272641		-
NM_000088.4(COL1A1):c.1249C>G (p.Pro417Ala)	1277	COL1A1	Conflicting interpretations of pathogenicity	72648327	RCV000307161\|RCV000864424\|RCV001127852\|RCV001127854\|RCV001711856\|RCV001127853\|RCV002401987;	N	MedGen:CN169374\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MONDO:MONDO:0007244,MedGen:C0020497,OMIM:114000, Orphanet:1310\|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MedGen:C3661900\|MONDO:	17	48272643	48272643	17:g.48272643G>C	ClinGen:CA8645333	CN169374 not specified;
NM_000088.4(COL1A1):c.1249C>T (p.Pro417Ser)	1277	COL1A1	Conflicting interpretations of pathogenicity	72648327	RCV000434641\|RCV000540512\|RCV000766720\|RCV001125757\|RCV001125756\|RCV001127851\|RCV002279198;	N	MedGen:CN169374\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:C3661900\|MONDO:MONDO:0007244,MedGen:C0020497,OMIM:114000, Orphanet:1310\|MONDO:MONDO:0007525,MedGen:C4551623,OMIM:130060, Orphanet:1899, Orphanet:99875,Orpha	17	48272643	48272643	NC_000017.10:g.48272643G>A	ClinGen:CA8645334	CN169374 not specified;
NM_000088.4(COL1A1):c.1248C>A (p.Gly416=)	1277	COL1A1	Likely benign	778415109	RCV001491562\|RCV002396178;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN230736	17	48272644	48272644	48272644	-
NM_000088.4(COL1A1):c.1247G>A (p.Gly416Asp)	1277	COL1A1	Pathogenic	1135401953	RCV000496233\|RCV000520103;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN517202	17	48272645	48272645	17:g.48272645C>T	ClinGen:CA400218794	CN517202 not provided;
NM_000088.4(COL1A1):c.1247del (p.Gly416fs)	1277	COL1A1	Pathogenic	1555574071	RCV000552075;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48272645	48272645	NC_000017.10:g.48272646del	ClinGen:CA658656713	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.1243C>T (p.Arg415Ter)	1277	COL1A1	Pathogenic	72648326	RCV000490754\|RCV000516899\|RCV001262344\|RCV002475959\|RCV003313958;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:C3661900\|MONDO:MONDO:0007244,MedGen:C0020497,OMIM:114000, Orphanet:1310\|8 conditions\|MONDO:MONDO:0030854,MedGen:C5436842,OMIM:619115	17	48272649	48272649	17:g.48272649G>A	ClinGen:CA291546646	CN517202 not provided;
NM_000088.4(COL1A1):c.1240G>T (p.Ala414Ser)	1277	COL1A1	Uncertain significance	2144575819	RCV001978083;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48272652	48272652	48272652	-
NM_000088.4(COL1A1):c.1238G>C (p.Gly413Ala)	1277	COL1A1	Conflicting interpretations of pathogenicity	72648325	RCV001867384\|RCV003339774;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MONDO:MONDO:0008148,MedGen:C0268363,OMIM:166220, Orphanet:216820, Orphanet:666	17	48272654	48272654	48272654	-
NM_000088.4(COL1A1):c.1237G>C (p.Gly413Arg)	1277	COL1A1	Likely pathogenic	1567760604	RCV000687601;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48272655	48272655	17:g.48272655C>G	-	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.1236T>C (p.Pro412=)	1277	COL1A1	Likely benign	560859897	RCV001410926\|RCV002363442;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN230736	17	48272656	48272656	17:g.48272656A>G	-
NM_000088.4(COL1A1):c.1225C>G (p.Pro409Ala)	1277	COL1A1	Uncertain significance	-1	RCV002833709;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48272667	48272667	NC_000017.10:g.48272667G>C	-
NM_000088.4(COL1A1):c.1213del (p.Ile405fs)	1277	COL1A1	Pathogenic	-1	RCV002856623;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48272679	48272679	NC_000017.10:g.48272679del	-
NM_000088.4(COL1A1):c.1211dup (p.Ile405fs)	1277	COL1A1	Pathogenic	2144575934	RCV001956086;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48272680	48272681	48272680	-
NM_000088.4(COL1A1):c.1209T>C (p.Pro403=)	1277	COL1A1	Likely benign	200786825	RCV002148827\|RCV002352922;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN230736	17	48272683	48272683	48272683	-
NM_000088.4(COL1A1):c.1207C>G (p.Pro403Ala)	1277	COL1A1	Likely benign	762809403	RCV002015198;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48272685	48272685	48272685	-
NM_000088.4(COL1A1):c.1206T>G (p.Ala402=)	1277	COL1A1	Likely benign	141411256	RCV002134097\|RCV002346503;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN230736	17	48272686	48272686	48272686	-
NM_000088.4(COL1A1):c.1206T>C (p.Ala402=)	1277	COL1A1	Likely benign	-1	RCV003072599;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48272686	48272686		-
NM_000088.4(COL1A1):c.1201G>A (p.Gly401Ser)	1277	COL1A1	Pathogenic	72648322	RCV000490729\|RCV002527010;	N	MONDO:MONDO:0008148,MedGen:C0268363,OMIM:166220, Orphanet:216820, Orphanet:666\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48272691	48272691	17:g.48272691C>T	ClinGen:CA400218987	C0268363 166220 Osteogenesis imperfecta with normal sclerae, dominant form;
NM_000088.4(COL1A1):c.1201-1G>A	1277	COL1A1	Pathogenic	72648321	RCV000984545\|RCV001387572\|RCV001784481;	N	MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN517202	17	48272692	48272692	17:g.48272692C>T	-
NM_000088.4(COL1A1):c.1201-12T>C	1277	COL1A1	Likely benign	1475476779	RCV002112797;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48272703	48272703	48272703	-
NM_000088.4(COL1A1):c.1200+15A>G	1277	COL1A1	Likely benign	371312641	RCV002216568;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48272780	48272780	48272780	-
NM_000088.4(COL1A1):c.1200+10C>T	1277	COL1A1	Likely benign	1490273189	RCV002182654;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48272785	48272785	48272785	-
NM_000088.4(COL1A1):c.1200+9C>G	1277	COL1A1	Likely benign	767579512	RCV002140389;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48272786	48272786	48272786	-
NM_000088.4(COL1A1):c.1200+5G>A	1277	COL1A1	Uncertain significance	374322003	RCV000686632\|RCV001558144\|RCV002499220\|RCV003362890;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:C3661900\|8 conditions\|MedGen:CN230736	17	48272790	48272790	17:g.48272790C>T	-	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.1200+2dup	1277	COL1A1	Likely pathogenic	1555574113	RCV000539578;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48272792	48272793	NC_000017.10:g.48272793dup	ClinGen:CA658656714	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.1200+2T>A	1277	COL1A1	Pathogenic	2144576668	RCV001872449;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48272793	48272793	48272793	-
NM_000088.4(COL1A1):c.1200+1G>A	1277	COL1A1	Pathogenic	72648320	RCV000029553\|RCV001043307;	N	MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48272794	48272794	17:g.48272794C>T	ClinGen:CA260270	C0029434 Osteogenesis imperfecta;
NM_000088.4(COL1A1):c.1192_1199del (p.Gly398fs)	1277	COL1A1	Pathogenic	1567760736	RCV000685043;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48272796	48272803	NC_000017.10:g.48272798_48272805del	-	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.1192G>T (p.Gly398Cys)	1277	COL1A1	Pathogenic	72648319	RCV000822609;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48272803	48272803	17:g.48272803C>A	-
NM_000088.4(COL1A1):c.1176_1179dup (p.Pro394fs)	1277	COL1A1	Pathogenic	-1	RCV002856748;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48272815	48272816	NC_000017.10:g.48272817_48272820dup	-
NM_000088.4(COL1A1):c.1178_1179insCCTTTA (p.Gln393delinsHisLeuTer)	1277	COL1A1	Pathogenic	2144576816	RCV002000134;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48272816	48272817	48272816	-
NM_000088.4(COL1A1):c.1177C>T (p.Gln393Ter)	1277	COL1A1	Pathogenic/Likely pathogenic	2144576822	RCV001658929\|RCV001882757\|RCV002495986;	N	MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|8 conditions	17	48272818	48272818	48272818	-
NM_000088.4(COL1A1):c.1168G>A (p.Ala390Thr)	1277	COL1A1	Benign/Likely benign	116794104	RCV000593224\|RCV000710756\|RCV001085656\|RCV002279325\|RCV002330826\|RCV002497060;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MedGen:CN230736\|8 conditions	17	48272827	48272827	17:g.48272827C>T	ClinGen:CA8645374	CN169374 not specified;
NM_000088.4(COL1A1):c.1161C>A (p.Asn387Lys)	1277	COL1A1	Conflicting interpretations of pathogenicity	899337697	RCV001344238\|RCV002357186;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN230736	17	48272834	48272834	48272834	-
NM_000088.4(COL1A1):c.1156-18C>T	1277	COL1A1	Likely benign	1227183168	RCV002168199;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48272857	48272857	48272857	-
NM_000088.4(COL1A1):c.1155+12del	1277	COL1A1	Likely benign	-1	RCV002927841;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48272916	48272916	NC_000017.10:g.48272919del	-
NM_000088.4(COL1A1):c.1155+11C>A	1277	COL1A1	Likely benign	-1	RCV002923508;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48272917	48272917	NC_000017.10:g.48272917G>T	-
NM_000088.4(COL1A1):c.1155+9C>A	1277	COL1A1	Likely benign	370459791	RCV002188364;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48272919	48272919	48272919	-
NM_000088.4(COL1A1):c.1155+1G>T	1277	COL1A1	Pathogenic	72648315	RCV001930294;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48272927	48272927	48272927	-
NM_000088.4(COL1A1):c.1153G>A (p.Ala385Thr)	1277	COL1A1	Uncertain significance	548048698	RCV001761310\|RCV002544108;	N	MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48272930	48272930	48272930	-
NM_000088.4(COL1A1):c.1149C>T (p.Gly383=)	1277	COL1A1	Likely benign	1291096544	RCV002124252;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48272934	48272934	48272934	-
NM_000088.4(COL1A1):c.1148G>C (p.Gly383Ala)	1277	COL1A1	Pathogenic	-1	RCV003022835;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48272935	48272935	NC_000017.10:g.48272935C>G	-
NM_000088.4(COL1A1):c.1145C>T (p.Ala382Val)	1277	COL1A1	Uncertain significance	-1	RCV002304534;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48272938	48272938	48272938	-
NM_000088.4(COL1A1):c.1139G>C (p.Gly380Ala)	1277	COL1A1	Pathogenic	72648314	RCV001891568;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48272944	48272944	48272944	-
NM_000088.4(COL1A1):c.1138G>A (p.Gly380Ser)	1277	COL1A1	Pathogenic	72648313	RCV000792555\|RCV002470982;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MONDO:MONDO:0008148,MedGen:C0268363,OMIM:166220, Orphanet:216820, Orphanet:666	17	48272945	48272945	17:g.48272945C>T	-
NM_000088.4(COL1A1):c.1132C>G (p.Pro378Ala)	1277	COL1A1	Benign/Likely benign	764381074	RCV000631503\|RCV001584459;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:C3661900	17	48272951	48272951	17:g.48272951G>C	ClinGen:CA8645389	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.1127dup (p.Gly377fs)	1277	COL1A1	Pathogenic	72645369	RCV000490655\|RCV000598940;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN517202	17	48272955	48272956	NC_000017.10:g.48272961dup	ClinGen:CA645294114	CN517202 not provided;
NM_000088.4(COL1A1):c.1128del (p.Gly377fs)	1277	COL1A1	Pathogenic	72645370	RCV000703850\|RCV002250685\|RCV002325428\|RCV003128653\|RCV003334391;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MONDO:MONDO:0009804,MedGen:C0268362,OMIM:259420, Orphanet:216812, Orphanet:666\|MedGen:CN230736\|MedGen:C3661900\|	17	48272955	48272955	17:g.48272955_48272955del	-	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.1127del (p.Pro376fs)	1277	COL1A1	Pathogenic	72645369	RCV001065365\|RCV001585970\|RCV003326535;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:C3661900\|MONDO:MONDO:0008148,MedGen:C0268363,OMIM:166220, Orphanet:216820, Orphanet:666	17	48272956	48272956	17:g.48272956_48272956del	-
NM_000088.4(COL1A1):c.1121del (p.Gly374fs)	1277	COL1A1	Pathogenic	1555574144	RCV000526231;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48272962	48272962	NC_000017.10:g.48272963del	ClinGen:CA658656716	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.1115A>G (p.Glu372Gly)	1277	COL1A1	Uncertain significance	-1	RCV003049297;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48272968	48272968	NC_000017.10:g.48272968T>C	-
NM_000088.4(COL1A1):c.1111G>A (p.Gly371Ser)	1277	COL1A1	Pathogenic	72645368	RCV000631492;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48272972	48272972	17:g.48272972C>T	ClinGen:CA291546874	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.1109G>A (p.Arg370His)	1277	COL1A1	Conflicting interpretations of pathogenicity	750756697	RCV001327713\|RCV002438756;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN230736	17	48272974	48272974	48272974	-
NM_000088.4(COL1A1):c.1107_1108delinsAG (p.Arg370Gly)	1277	COL1A1	Uncertain significance	1907513580	RCV001343937;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48272975	48272976	48272975	-
NM_000088.4(COL1A1):c.1103G>C (p.Gly368Ala)	1277	COL1A1	Pathogenic/Likely pathogenic	1555574151	RCV000538665\|RCV001260276;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666	17	48272980	48272980	NC_000017.10:g.48272980C>G	ClinGen:CA400219930	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.1086_1102del (p.Ser363fs)	1277	COL1A1	Pathogenic	1555574154	RCV000490756;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48272981	48272997	17:g.48272981_48272997del	ClinGen:CA645294115	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.1099C>T (p.Gln367Ter)	1277	COL1A1	Pathogenic	1555574158	RCV000631473;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48272984	48272984	NC_000017.10:g.48272984G>A	ClinGen:CA400219983	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.1092A>C (p.Glu364Asp)	1277	COL1A1	Uncertain significance	1907515907	RCV001304096;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48272991	48272991	48272991	-
NM_000088.4(COL1A1):c.1087T>C (p.Ser363Pro)	1277	COL1A1	Conflicting interpretations of pathogenicity	1207868159	RCV001306644\|RCV003145542;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN517202	17	48272996	48272996	48272996	-
NM_000088.4(COL1A1):c.1084G>A (p.Gly362Ser)	1277	COL1A1	Likely pathogenic	1907516553	RCV001196899\|RCV003163499;	N	MONDO:MONDO:0008148,MedGen:C0268363,OMIM:166220, Orphanet:216820, Orphanet:666\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48272999	48272999	17:g.48272999C>T	-
NM_000088.4(COL1A1):c.1081C>T (p.Arg361Ter)	1277	COL1A1	Pathogenic	72645366	RCV000490713\|RCV001542693\|RCV001584199\|RCV002279254;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MONDO:MONDO:0008147,MedGen:C0268358,OMIM:166210, Orphanet:216804\|MedGen:C3661900\|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666	17	48273002	48273002	17:g.48273002G>A	ClinGen:CA291546898	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.1065_1078del (p.Gly356fs)	1277	COL1A1	Pathogenic	2144577718	RCV001939382;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48273005	48273018	48273004	-
NM_000088.4(COL1A1):c.1077G>A (p.Gly359=)	1277	COL1A1	Likely benign	1419690614	RCV001468974;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48273006	48273006	48273006	-
NM_000088.4(COL1A1):c.1077G>T (p.Gly359=)	1277	COL1A1	Likely benign	-1	RCV002422024\|RCV003101035;	N	MedGen:CN230736\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48273006	48273006		-
NM_000088.4(COL1A1):c.1072C>G (p.Gln358Glu)	1277	COL1A1	Conflicting interpretations of pathogenicity	749024135	RCV001770806\|RCV001882872;	N	MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48273011	48273011	48273011	-
NM_000088.4(COL1A1):c.1066G>T (p.Gly356Cys)	1277	COL1A1	Pathogenic	72645365	RCV000018850;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48273017	48273017	17:g.48273017C>A	ClinGen:CA281086,OMIM:120150.0028	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.1062A>T (p.Glu354Asp)	1277	COL1A1	Conflicting interpretations of pathogenicity	778733293	RCV000680481\|RCV001508819\|RCV001247288;	N	MONDO:MONDO:0003900,MedGen:C0009782\|MedGen:CN517202\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48273021	48273021	17:g.48273021T>A	-	C0009782 Connective tissue disorder;
NM_000088.4(COL1A1):c.1057G>T (p.Gly353Cys)	1277	COL1A1	Pathogenic	66721653	RCV000018827\|RCV002513110;	N	MONDO:MONDO:0008148,MedGen:C0268363,OMIM:166220, Orphanet:216820, Orphanet:666\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48273026	48273026	17:g.48273026C>A	ClinGen:CA257812,OMIM:120150.0003	C0268363 166220 Osteogenesis imperfecta with normal sclerae, dominant form;
NM_000088.4(COL1A1):c.1057-1G>A	1277	COL1A1	Pathogenic	1555574177	RCV000631476;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48273027	48273027	NC_000017.10:g.48273027C>T	ClinGen:CA400220332	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.1057-2A>T	1277	COL1A1	Pathogenic/Likely pathogenic	66511271	RCV002277875\|RCV003096249;	N	MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48273028	48273028	48273028	-
NM_000088.4(COL1A1):c.1057-2A>C	1277	COL1A1	Pathogenic	-1	RCV003064470;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48273028	48273028	NC_000017.10:g.48273028T>G	-
NM_000088.4(COL1A1):c.1057-3C>G	1277	COL1A1	Uncertain significance	1555574180	RCV000534038;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48273029	48273029	NC_000017.10:g.48273029G>C	ClinGen:CA658656717	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.1057-20T>C	1277	COL1A1	Benign	73338527	RCV002136552;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48273046	48273046	48273046	-
NM_000088.4(COL1A1):c.1057-20T>G	1277	COL1A1	Likely benign	-1	RCV002806493;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48273046	48273046	NC_000017.10:g.48273046A>C	-
NM_000088.4(COL1A1):c.1056+18C>T	1277	COL1A1	Likely benign	1357296523	RCV002165302;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48273266	48273266	48273266	-
NM_000088.4(COL1A1):c.1056+12dup	1277	COL1A1	Benign/Likely benign	766175536	RCV001704631\|RCV002063769\|RCV002489163;	N	MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|8 conditions	17	48273271	48273272	17:g.48273271_48273272insG	ClinGen:CA8645415	CN169374 not specified;
NM_000088.4(COL1A1):c.1056+12del	1277	COL1A1	Benign	-1	RCV002895646;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48273272	48273272	NC_000017.10:g.48273277del	-
NM_000088.4(COL1A1):c.1056+7C>A	1277	COL1A1	Likely benign	1055536504	RCV001400628;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48273277	48273277	17:g.48273277G>T	-
NM_000088.4(COL1A1):c.1056+3G>A	1277	COL1A1	Uncertain significance	367802613	RCV001888412\|RCV002397824;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN230736	17	48273281	48273281	48273281	-
NM_000088.4(COL1A1):c.1056+1G>A	1277	COL1A1	Pathogenic	-1	RCV003050487;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48273283	48273283	NC_000017.10:g.48273283C>T	-
NM_000088.4(COL1A1):c.1053T>C (p.Ala351=)	1277	COL1A1	Likely benign	1473998316	RCV002126196;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48273287	48273287	48273287	-
NM_000088.4(COL1A1):c.1042_1043dup (p.Val349fs)	1277	COL1A1	Pathogenic	1907543361	RCV001228084;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48273296	48273297	17:g.48273296_48273297insGC	-
NM_000088.4(COL1A1):c.1032C>T (p.Gly344=)	1277	COL1A1	Likely benign	-1	RCV003080209\|RCV003294496;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN230736	17	48273308	48273308		-
NM_000088.4(COL1A1):c.1023_1024dup (p.Pro342fs)	1277	COL1A1	Pathogenic	-1	RCV002885085;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48273315	48273316	NC_000017.10:g.48273316_48273317dup	-
NM_000088.4(COL1A1):c.1025C>T (p.Pro342Leu)	1277	COL1A1	Likely benign	-1	RCV002908148;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48273315	48273315	NC_000017.10:g.48273315G>A	-
NM_000088.4(COL1A1):c.1018G>A (p.Ala340Thr)	1277	COL1A1	Conflicting interpretations of pathogenicity	773343407	RCV000878024\|RCV002540034;	N	MedGen:CN517202\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48273322	48273322	17:g.48273322C>T	-
NM_000088.4(COL1A1):c.1018del (p.Ala340fs)	1277	COL1A1	Pathogenic	2144578888	RCV002007623;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48273322	48273322	48273321	-
NM_000088.4(COL1A1):c.1017del (p.Ala340fs)	1277	COL1A1	Pathogenic	2144578905	RCV001956470;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48273323	48273323	48273322	-
NM_000088.4(COL1A1):c.1005_1013del (p.Thr337_Pro339del)	1277	COL1A1	Pathogenic	-1	RCV002918367;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48273327	48273335	NC_000017.10:g.48273329_48273337del	-
NM_000088.4(COL1A1):c.1012G>A (p.Gly338Ser)	1277	COL1A1	Pathogenic	66664580	RCV000534961\|RCV001560527;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN517202	17	48273328	48273328	17:g.48273328C>T	ClinGen:CA8645430	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.1011C>T (p.Thr337=)	1277	COL1A1	Conflicting interpretations of pathogenicity	774708577	RCV002277954\|RCV002454606\|RCV003101584;	N	MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000, Orphanet:98249\|MedGen:CN230736\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48273329	48273329		-
NM_000088.4(COL1A1):c.1005T>A (p.Gly335=)	1277	COL1A1	Conflicting interpretations of pathogenicity	375914028	RCV000377775\|RCV000631511\|RCV001124863\|RCV001124861\|RCV001124862\|RCV001711850\|RCV002278262\|RCV002411144;	N	MedGen:CN169374\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MONDO:MONDO:0007244,MedGen:C0020497,OMIM:114000, Orphanet:1310\|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MONDO:MONDO:0007525,Me	17	48273335	48273335	17:g.48273335A>T	ClinGen:CA8645432	CN169374 not specified;
NM_000088.4(COL1A1):c.1003G>A (p.Gly335Ser)	1277	COL1A1	Pathogenic	2144579011	RCV001388124;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48273337	48273337	48273337	-
NM_000088.4(COL1A1):c.1003-1G>A	1277	COL1A1	Pathogenic/Likely pathogenic	72645361	RCV000585423\|RCV001860110;	N	MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48273338	48273338	17:g.48273338C>T	ClinGen:CA400221105	CN517202 not provided;
NM_000088.4(COL1A1):c.1003-8A>G	1277	COL1A1	Likely benign	2144579048	RCV001441557;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48273345	48273345	48273345	-
NM_000088.4(COL1A1):c.1002+20C>T	1277	COL1A1	Likely benign	-1	RCV002612611;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48273496	48273496	NC_000017.10:g.48273496G>A	-
NM_000088.4(COL1A1):c.1002+15T>C	1277	COL1A1	Likely benign	1171552644	RCV002148587;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48273501	48273501	48273501	-
NM_000088.4(COL1A1):c.1002+2T>C	1277	COL1A1	Pathogenic	786205507	RCV000490762;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48273514	48273514	17:g.48273514A>G	ClinGen:CA400221190	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.1001del (p.Pro334fs)	1277	COL1A1	Pathogenic	150572711	RCV000991249\|RCV002226428;	N	MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48273517	48273517	17:g.48273517_48273517del	-
NM_000088.4(COL1A1):c.1000C>T (p.Pro334Ser)	1277	COL1A1	Uncertain significance	1156650562	RCV000802837;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48273518	48273518	17:g.48273518G>A	-
NM_000088.4(COL1A1):c.999C>T (p.Pro333=)	1277	COL1A1	Benign/Likely benign	62637627	RCV000029587\|RCV000876823\|RCV001697131\|RCV002276578\|RCV002381265;	N	MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:C3661900\|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000, Orphanet:98249\|MedGen:CN230736	17	48273519	48273519	17:g.48273519G>A	ClinGen:CA260330	CN169374 not specified;
NM_000088.4(COL1A1):c.997C>T (p.Pro333Ser)	1277	COL1A1	Likely benign	-1	RCV002949288;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48273521	48273521	NC_000017.10:g.48273521G>A	-
NM_000088.4(COL1A1):c.993C>T (p.Ala331=)	1277	COL1A1	Likely benign	147277057	RCV001431396\|RCV002384647;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN230736	17	48273525	48273525	48273525	-
NM_000088.4(COL1A1):c.992C>A (p.Ala331Asp)	1277	COL1A1	Uncertain significance	762653813	RCV001937078;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48273526	48273526	48273526	-
NM_000088.4(COL1A1):c.984del (p.Gly329fs)	1277	COL1A1	Pathogenic	2144579869	RCV001941716;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48273534	48273534	48273533	-
NM_000088.4(COL1A1):c.983C>A (p.Thr328Asn)	1277	COL1A1	Uncertain significance	766151268	RCV001369199;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48273535	48273535	48273535	-
NM_000088.4(COL1A1):c.972_978dup (p.Ala327Ter)	1277	COL1A1	Pathogenic	1114167411	RCV000490721;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48273539	48273540	17:g.48273539_48273540insACCATCA	ClinGen:CA645293909	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.979G>T (p.Ala327Ser)	1277	COL1A1	Conflicting interpretations of pathogenicity	769106952	RCV001886901\|RCV002276923;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666	17	48273539	48273539	48273539	-
NM_000088.4(COL1A1):c.977G>A (p.Gly326Asp)	1277	COL1A1	Pathogenic	72645356	RCV000490742;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48273541	48273541	NC_000017.10:g.48273541C>T	ClinGen:CA291547133	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.976G>C (p.Gly326Arg)	1277	COL1A1	Pathogenic	72645355	RCV001388662\|RCV001542694\|RCV001664862;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MONDO:MONDO:0008147,MedGen:C0268358,OMIM:166210, Orphanet:216804\|MedGen:C3661900	17	48273542	48273542	48273542	-
NM_000088.4(COL1A1):c.974A>G (p.Asp325Gly)	1277	COL1A1	Uncertain significance	2144579945	RCV001958087;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48273544	48273544	48273544	-
NM_000088.4(COL1A1):c.972T>C (p.Asn324=)	1277	COL1A1	Likely benign	565335839	RCV000631508;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48273546	48273546	17:g.48273546A>G	ClinGen:CA8645458	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.964C>T (p.Arg322Cys)	1277	COL1A1	Uncertain significance	777644312	RCV000424837\|RCV001851108;	N	MedGen:CN517202\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48273554	48273554	17:g.48273554G>A	ClinGen:CA8645462	CN169374 not specified;
NM_000088.4(COL1A1):c.962dup (p.Arg322fs)	1277	COL1A1	Pathogenic	1555574319	RCV000631483;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48273555	48273556	NC_000017.10:g.48273556dup	ClinGen:CA658798900	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.958G>T (p.Gly320Cys)	1277	COL1A1	Likely pathogenic	2144580035	RCV002046149;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48273560	48273560	48273560	-
NM_000088.4(COL1A1):c.958-1G>C	1277	COL1A1	Pathogenic/Likely pathogenic	72645352	RCV000989948\|RCV002279683;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666	17	48273561	48273561	17:g.48273561C>G	-
NM_000088.4(COL1A1):c.958-1G>A	1277	COL1A1	Pathogenic/Likely pathogenic	72645352	RCV001385345;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48273561	48273561	48273561	-
NM_000088.4(COL1A1):c.958-9C>T	1277	COL1A1	Likely benign	1270507282	RCV002107993;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48273569	48273569	48273569	-
NM_000088.4(COL1A1):c.957+17C>T	1277	COL1A1	Benign	-1	RCV003084940;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48273658	48273658	NC_000017.10:g.48273658G>A	-
NM_000088.4(COL1A1):c.957+10C>A	1277	COL1A1	Benign/Likely benign	376179885	RCV000873226\|RCV001125833\|RCV001125834\|RCV001125835\|RCV002279586;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MONDO:MONDO:0007525,MedGen:C4551623,OMIM:130060, Orphanet:1899, Orphanet:99875, Orphanet:99876\|MONDO:MO	17	48273665	48273665	17:g.48273665G>T	-
NM_000088.4(COL1A1):c.953C>G (p.Pro318Arg)	1277	COL1A1	Uncertain significance	-1	RCV003016458;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48273679	48273679	NC_000017.10:g.48273679G>C	-
NM_000088.4(COL1A1):c.952C>T (p.Pro318Ser)	1277	COL1A1	Uncertain significance	1273349782	RCV001062855;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48273680	48273680	17:g.48273680G>A	-
NM_000088.4(COL1A1):c.945C>T (p.Ala315=)	1277	COL1A1	Conflicting interpretations of pathogenicity	780242725	RCV002097334\|RCV002372899\|RCV002277014;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN230736\|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000, Orphanet:98249	17	48273687	48273687	48273687	-
NM_000088.4(COL1A1):c.938del (p.Pro313fs)	1277	COL1A1	Pathogenic	1598298292	RCV000989949;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48273694	48273694	17:g.48273694_48273694del	-
NM_000088.4(COL1A1):c.937C>T (p.Pro313Ser)	1277	COL1A1	Uncertain significance	1054020486	RCV000689514\|RCV002510956;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN517202	17	48273695	48273695	NC_000017.10:g.48273695G>A	-	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.935G>A (p.Arg312His)	1277	COL1A1	Uncertain significance	930476771	RCV002277970\|RCV003101585;	N	MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000, Orphanet:98249\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48273697	48273697	48273697	-
NM_000088.4(COL1A1):c.931G>C (p.Gly311Arg)	1277	COL1A1	Pathogenic	72645345	RCV001916472;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48273701	48273701	48273701	-
NM_000088.3(COL1A1):c.920_926delinsTGAGAGGT (p.Pro307fs)	1277	COL1A1	Pathogenic	1567761649	RCV000707513;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48273706	48273712	17:g.48273706_48273707insCCTCTCA	-	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.918G>T (p.Leu306=)	1277	COL1A1	Likely benign	769021257	RCV001486661\|RCV002377835;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN230736	17	48273714	48273714	48273714	-
NM_000088.4(COL1A1):c.913G>A (p.Gly305Ser)	1277	COL1A1	Pathogenic	68062484	RCV001941098;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48273719	48273719	48273719	-
NM_000088.4(COL1A1):c.910del (p.Arg304fs)	1277	COL1A1	Pathogenic	2144580791	RCV001939928;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48273722	48273722	48273721	-
NM_000088.4(COL1A1):c.904-1G>C	1277	COL1A1	Likely pathogenic	1907593112	RCV001253294;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48273729	48273729	17:g.48273729C>G	-
NM_000088.4(COL1A1):c.904-9G>T	1277	COL1A1	Benign/Likely benign	141726413	RCV000248029\|RCV000659349\|RCV000710775\|RCV001084866\|RCV001125836\|RCV001127944\|RCV001127945\|RCV002276577;	N	MedGen:CN169374\|MONDO:MONDO:0003900,MedGen:C0009782\|MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MONDO:MONDO:0007525,MedGen:C4551623,OMIM:130060, Orphanet:1899, Orphanet:99875, Orphanet:99876\|MONDO:MONDO:0007	17	48273737	48273737	17:g.48273737C>A	ClinGen:CA260329	C0009782 Connective tissue disorder;
NM_000088.4(COL1A1):c.904-9G>A	1277	COL1A1	Pathogenic	141726413	RCV001971992;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48273737	48273737	48273737	-
NM_000088.4(COL1A1):c.904-10T>A	1277	COL1A1	Uncertain significance	-1	RCV003064471;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48273738	48273738	NC_000017.10:g.48273738A>T	-
NM_000088.4(COL1A1):c.904-17C>G	1277	COL1A1	Likely benign	-1	RCV002650778;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48273745	48273745	NC_000017.10:g.48273745G>C	-
NM_000088.4(COL1A1):c.904-17C>T	1277	COL1A1	Likely benign	-1	RCV002726009;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48273745	48273745	NC_000017.10:g.48273745G>A	-
NM_000088.4(COL1A1):c.903+12C>G	1277	COL1A1	Likely benign	-1	RCV002761534;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48273833	48273833	NC_000017.10:g.48273833G>C	-
NM_000088.4(COL1A1):c.903+11C>G	1277	COL1A1	Likely benign	-1	RCV002982657;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48273834	48273834	NC_000017.10:g.48273834G>C	-
NM_000088.4(COL1A1):c.903+3G>A	1277	COL1A1	Uncertain significance	748604968	RCV000793784;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48273842	48273842	17:g.48273842C>T	-
NM_000088.4(COL1A1):c.903+2T>A	1277	COL1A1	Pathogenic	1598298449	RCV000800942;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48273843	48273843	17:g.48273843A>T	-
NM_000088.4(COL1A1):c.903+1G>A	1277	COL1A1	Pathogenic	1298621011	RCV000527395\|RCV003326451;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MONDO:MONDO:0008148,MedGen:C0268363,OMIM:166220, Orphanet:216820, Orphanet:666	17	48273844	48273844	17:g.48273844C>T	ClinGen:CA400222006	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.903+1del	1277	COL1A1	Pathogenic	-1	RCV003037774;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48273844	48273844	NC_000017.10:g.48273845del	-
NM_000088.4(COL1A1):c.903+1G>T	1277	COL1A1	Pathogenic	-1	RCV003027965;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48273844	48273844	NC_000017.10:g.48273844C>A	-
NM_000088.4(COL1A1):c.886G>A (p.Gly296Arg)	1277	COL1A1	Pathogenic	-1	RCV003017193;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48273862	48273862	NC_000017.10:g.48273862C>T	-
NM_000088.4(COL1A1):c.880G>T (p.Glu294Ter)	1277	COL1A1	Pathogenic	-1	RCV002881701;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48273868	48273868	NC_000017.10:g.48273868C>A	-
NM_000088.4(COL1A1):c.878del (p.Gly293fs)	1277	COL1A1	Pathogenic	2144581296	RCV001962134;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48273870	48273870	48273869	-
NM_000088.4(COL1A1):c.876T>C (p.Pro292=)	1277	COL1A1	Benign/Likely benign	-1	RCV002373631\|RCV003100022;	N	MedGen:CN230736\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48273872	48273872		-
NM_000088.4(COL1A1):c.874C>T (p.Pro292Ser)	1277	COL1A1	Uncertain significance	139840296	RCV001941407;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48273874	48273874	48273874	-
NM_000088.4(COL1A1):c.862G>T (p.Glu288Ter)	1277	COL1A1	Pathogenic	72645341	RCV000534334;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48273886	48273886	NC_000017.10:g.48273886C>A	ClinGen:CA400222280	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.862G>A (p.Glu288Lys)	1277	COL1A1	Uncertain significance	72645341	RCV001786716\|RCV001868882\|RCV003227991;	N	MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666; MONDO:MONDO:0007522,MedGen:C4225429, Orphanet:287; MONDO:MONDO:0007525,MedGen:C4551623	17	48273886	48273886	48273886	-
NM_000088.4(COL1A1):c.861T>A (p.Gly287=)	1277	COL1A1	Likely benign	-1	RCV003017194;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48273887	48273887		-
NM_000088.4(COL1A1):c.859G>A (p.Gly287Ser)	1277	COL1A1	Pathogenic/Likely pathogenic	72645340	RCV002007540;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48273889	48273889	48273889	-
NM_000088.4(COL1A1):c.859-1G>A	1277	COL1A1	Pathogenic	72645339	RCV001554895\|RCV002032603;	N	MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48273890	48273890	48273890	-
NM_000088.4(COL1A1):c.859-2A>G	1277	COL1A1	Pathogenic	72645338	RCV001063643;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48273891	48273891	17:g.48273891T>C	-
NM_000088.4(COL1A1):c.859-5T>C	1277	COL1A1	Likely benign	771596805	RCV002190641\|RCV002443125;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN230736	17	48273894	48273894	48273894	-
NM_000088.4(COL1A1):c.858+24G>A	1277	COL1A1	Benign	532741992	RCV001514295;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48273954	48273954	48273954	-
NM_000088.4(COL1A1):c.858+20T>A	1277	COL1A1	Benign	-1	RCV003007213;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48273958	48273958	NC_000017.10:g.48273958A>T	-
NM_000088.4(COL1A1):c.858+18C>T	1277	COL1A1	Likely benign	368700070	RCV002094541;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48273960	48273960	48273960	-
NM_000088.4(COL1A1):c.858+17A>G	1277	COL1A1	Likely benign	2144581710	RCV002150409;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48273961	48273961	48273961	-
NM_000088.4(COL1A1):c.858+1G>A	1277	COL1A1	Pathogenic	-1	RCV003041318;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48273977	48273977	NC_000017.10:g.48273977C>T	-
NM_000088.4(COL1A1):c.855T>C (p.Pro285=)	1277	COL1A1	Likely benign	1598298624	RCV001499307;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48273981	48273981	17:g.48273981A>G	-
NM_000088.4(COL1A1):c.853C>G (p.Pro285Ala)	1277	COL1A1	Uncertain significance	1567761937	RCV000685713;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48273983	48273983	NC_000017.10:g.48273983G>C	-	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.851G>C (p.Gly284Ala)	1277	COL1A1	Pathogenic	72645337	RCV000490675;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48273985	48273985	17:g.48273985C>G	ClinGen:CA291547382	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.851G>A (p.Gly284Asp)	1277	COL1A1	Likely pathogenic	-1	RCV002995418\|RCV003410020;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|	17	48273985	48273985	NC_000017.10:g.48273985C>T	-
NM_000088.4(COL1A1):c.841_848del (p.Gly281fs)	1277	COL1A1	Pathogenic	1567761950	RCV000688236;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48273988	48273995	NC_000017.10:g.48273988_48273995del	-	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.841G>A (p.Gly281Ser)	1277	COL1A1	Pathogenic	72645334	RCV000490718;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48273995	48273995	17:g.48273995C>T	ClinGen:CA291547390	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.835G>A (p.Asp279Asn)	1277	COL1A1	Uncertain significance	745367793	RCV001040197;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48274001	48274001	17:g.48274001C>T	-
NM_000088.4(COL1A1):c.833_834delinsTT (p.Gly278Val)	1277	COL1A1	Pathogenic	1907617224	RCV001039464;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48274002	48274003	NC_000017.10:g.48274002_48274003delinsAA	-
NM_000088.4(COL1A1):c.823G>T (p.Gly275Cys)	1277	COL1A1	Pathogenic	72645332	RCV000824299;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48274013	48274013	17:g.48274013C>A	-
NM_000088.4(COL1A1):c.814G>T (p.Gly272Cys)	1277	COL1A1	Pathogenic	72645331	RCV000018826\|RCV002247357;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MONDO:MONDO:0007244,MedGen:C0020497,OMIM:114000, Orphanet:1310	17	48274022	48274022	17:g.48274022C>A	ClinGen:CA281082,OMIM:120150.0002	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.814G>A (p.Gly272Ser)	1277	COL1A1	Pathogenic	72645331	RCV001383972;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48274022	48274022	48274022	-
NM_000088.4(COL1A1):c.806G>C (p.Gly269Ala)	1277	COL1A1	Likely pathogenic	-1	RCV002467484;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48274030	48274030	NC_000017.10:g.48274030C>G	-
NM_000088.4(COL1A1):c.806G>A (p.Gly269Asp)	1277	COL1A1	Pathogenic	-1	RCV002806911;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48274030	48274030	NC_000017.10:g.48274030C>T	-
NM_000088.4(COL1A1):c.805G>A (p.Gly269Ser)	1277	COL1A1	Pathogenic/Likely pathogenic	72645328	RCV000029584\|RCV001852591;	N	MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48274031	48274031	17:g.48274031C>T	ClinGen:CA260326	C0029434 Osteogenesis imperfecta;
NM_000088.4(COL1A1):c.805G>C (p.Gly269Arg)	1277	COL1A1	Likely pathogenic	72645328	RCV000631491;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48274031	48274031	17:g.48274031C>G	ClinGen:CA400222713	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.805-1G>A	1277	COL1A1	Pathogenic	1598298699	RCV000984474;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48274032	48274032	17:g.48274032C>T	-
NM_000088.4(COL1A1):c.805-1G>C	1277	COL1A1	Likely pathogenic	1598298699	RCV002014190;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48274032	48274032	48274032	-
NM_000088.4(COL1A1):c.805-10C>T	1277	COL1A1	Likely benign	746606358	RCV001498584;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48274041	48274041	48274041	-
NM_000088.4(COL1A1):c.805-14C>G	1277	COL1A1	Likely benign	-1	RCV002667354;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48274045	48274045	NC_000017.10:g.48274045G>C	-
NM_000088.4(COL1A1):c.804+18C>T	1277	COL1A1	Likely benign	754603674	RCV002211906;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48274353	48274353	48274353	-
NM_000088.4(COL1A1):c.804+9C>A	1277	COL1A1	Likely benign	2144583154	RCV002111180;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48274362	48274362	48274362	-
NM_000088.4(COL1A1):c.804+1G>A	1277	COL1A1	Pathogenic	1057518930	RCV001972748;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48274370	48274370	48274370	-
NM_000088.4(COL1A1):c.802A>T (p.Arg268Ter)	1277	COL1A1	Pathogenic	1567762257	RCV000700349;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48274373	48274373	NC_000017.10:g.48274373T>A	-	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.799_802del (p.His267fs)	1277	COL1A1	Pathogenic	1567762262	RCV000820173;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48274373	48274376	17:g.48274373_48274376del	-
NM_000088.4(COL1A1):c.796G>C (p.Gly266Arg)	1277	COL1A1	Pathogenic	1555574493	RCV000558433;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48274379	48274379	NC_000017.10:g.48274379C>G	ClinGen:CA400223710	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.796G>A (p.Gly266Arg)	1277	COL1A1	Pathogenic	1555574493	RCV001946807;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48274379	48274379	48274379	-
NM_000088.4(COL1A1):c.795G>A (p.Lys265=)	1277	COL1A1	Likely benign	1907651576	RCV001295257;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48274380	48274380	48274380	-
NM_000088.4(COL1A1):c.790A>T (p.Met264Leu)	1277	COL1A1	Uncertain significance	374947065	RCV001762945\|RCV002032784;	N	MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48274385	48274385	48274385	-
NM_000088.4(COL1A1):c.788G>A (p.Gly263Glu)	1277	COL1A1	Pathogenic	72645324	RCV001867411;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48274387	48274387	48274387	-
NM_000088.4(COL1A1):c.774_785del (p.Ala259_Pro262del)	1277	COL1A1	Pathogenic	-1	RCV002991509;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48274390	48274401	NC_000017.10:g.48274391_48274402del	-
NM_000088.4(COL1A1):c.783C>G (p.Leu261=)	1277	COL1A1	Likely benign	369971149	RCV002073543;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48274392	48274392	48274392	-
NM_000088.4(COL1A1):c.779G>T (p.Gly260Val)	1277	COL1A1	Pathogenic	1598299070	RCV000822219;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48274396	48274396	17:g.48274396C>A	-
NM_000088.4(COL1A1):c.779G>A (p.Gly260Asp)	1277	COL1A1	Pathogenic/Likely pathogenic	1598299070	RCV001890294\|RCV002250781;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MONDO:MONDO:0008148,MedGen:C0268363,OMIM:166220, Orphanet:216820, Orphanet:666	17	48274396	48274396	48274396	-
NM_000088.4(COL1A1):c.770del (p.Gly257fs)	1277	COL1A1	Pathogenic	1555574497	RCV000557376;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48274405	48274405	17:g.48274405_48274405del	ClinGen:CA658656721	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.770G>A (p.Gly257Glu)	1277	COL1A1	Likely pathogenic	1555574496	RCV000545904;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48274405	48274405	NC_000017.10:g.48274405C>T	ClinGen:CA400223882	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.769G>A (p.Gly257Arg)	1277	COL1A1	Pathogenic	72645321	RCV000490740\|RCV000520145\|RCV002279257\|RCV002489188\|RCV003392318;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:C3661900\|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|8 conditions\|	17	48274406	48274406	17:g.48274406C>T	ClinGen:CA291547584	CN517202 not provided;
NM_000088.4(COL1A1):c.769G>C (p.Gly257Arg)	1277	COL1A1	Pathogenic	72645321	RCV002007244;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48274406	48274406	48274406	-
NM_000088.4(COL1A1):c.769G>T (p.Gly257Ter)	1277	COL1A1	Pathogenic	-1	RCV002851495;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48274406	48274406	NC_000017.10:g.48274406C>A	-
NM_000088.4(COL1A1):c.768C>T (p.Pro256=)	1277	COL1A1	Conflicting interpretations of pathogenicity	199891984	RCV000488066\|RCV002056811\|RCV002279251\|RCV002404277;	N	MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MedGen:CN230736	17	48274407	48274407	17:g.48274407G>A	ClinGen:CA8645556	CN517202 not provided;
NM_000088.4(COL1A1):c.766C>T (p.Pro256Ser)	1277	COL1A1	Uncertain significance	-1	RCV002976246;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48274409	48274409	NC_000017.10:g.48274409G>A	-
NM_000088.4(COL1A1):c.765G>A (p.Leu255=)	1277	COL1A1	Likely benign	373529600	RCV000631507;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48274410	48274410	NC_000017.10:g.48274410C>T	ClinGen:CA291547590	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.762A>T (p.Gly254=)	1277	COL1A1	Likely benign	759735608	RCV001337752;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48274413	48274413	48274413	-
NM_000088.4(COL1A1):c.758G>A (p.Arg253Gln)	1277	COL1A1	Uncertain significance	1191323992	RCV001987698;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48274417	48274417	48274417	-
NM_000088.4(COL1A1):c.757C>T (p.Arg253Ter)	1277	COL1A1	Pathogenic	72645318	RCV000255304\|RCV000631490\|RCV002278252;	N	MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666	17	48274418	48274418	17:g.48274418G>A	ClinGen:CA10588666	CN517202 not provided;
NM_000088.4(COL1A1):c.752G>A (p.Gly251Asp)	1277	COL1A1	Pathogenic	1114167410	RCV000490695;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48274423	48274423	NC_000017.10:g.48274423C>T	ClinGen:CA400223989	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.751-1G>A	1277	COL1A1	Pathogenic	1555574516	RCV000519996\|RCV000631493;	N	MedGen:CN517202\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48274425	48274425	17:g.48274425C>T	ClinGen:CA400224003	CN517202 not provided;
NM_000088.4(COL1A1):c.751-2A>G	1277	COL1A1	Pathogenic/Likely pathogenic	193922158	RCV000029583\|RCV000798967;	N	MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48274426	48274426	17:g.48274426T>C	ClinGen:CA260325	C0029434 Osteogenesis imperfecta;
NM_000088.4(COL1A1):c.751-3C>T	1277	COL1A1	Uncertain significance	-1	RCV002610970;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48274427	48274427	NC_000017.10:g.48274427G>A	-
NM_000088.4(COL1A1):c.751-20T>G	1277	COL1A1	Likely benign	-1	RCV002903981;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48274444	48274444	NC_000017.10:g.48274444A>C	-
NM_000088.4(COL1A1):c.750+2T>C	1277	COL1A1	Pathogenic	1907669327	RCV001051200;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48274539	48274539	17:g.48274539A>G	-
NM_000088.4(COL1A1):c.740C>T (p.Pro247Leu)	1277	COL1A1	Conflicting interpretations of pathogenicity	199626372	RCV000346609\|RCV000686753\|RCV002379141\|RCV002278310;	N	MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN230736\|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000, Orphanet:98249	17	48274551	48274551	17:g.48274551G>A	ClinGen:CA8645573	CN169374 not specified;
NM_000088.4(COL1A1):c.738T>C (p.Pro246=)	1277	COL1A1	Likely benign	-1	RCV003065574;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48274553	48274553		-
NM_000088.4(COL1A1):c.731_732insC (p.Gly245fs)	1277	COL1A1	Pathogenic	1555574553	RCV000545135;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48274559	48274560	17:g.48274559_48274560insG	ClinGen:CA658656722	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.730C>T (p.Arg244Cys)	1277	COL1A1	Uncertain significance	-1	RCV002800725;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48274561	48274561	NC_000017.10:g.48274561G>A	-
NM_000088.4(COL1A1):c.727G>T (p.Glu243Ter)	1277	COL1A1	Pathogenic	1907672538	RCV001197453\|RCV002560234;	N	MONDO:MONDO:0008148,MedGen:C0268363,OMIM:166220, Orphanet:216820, Orphanet:666\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48274564	48274564	17:g.48274564C>A	-
NM_000088.4(COL1A1):c.725G>T (p.Gly242Val)	1277	COL1A1	Pathogenic	72645315	RCV000989950;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48274566	48274566	17:g.48274566C>A	-
NM_000088.4(COL1A1):c.722del (p.Pro241fs)	1277	COL1A1	Pathogenic	-1	RCV003034874;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48274569	48274569	NC_000017.10:g.48274570del	-
NM_000088.4(COL1A1):c.721C>T (p.Pro241Ser)	1277	COL1A1	Uncertain significance	-1	RCV002710413;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48274570	48274570	NC_000017.10:g.48274570G>A	-
NM_000088.4(COL1A1):c.703G>A (p.Ala235Thr)	1277	COL1A1	Uncertain significance	1907674004	RCV001914150;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48274588	48274588	48274588	-
NM_000088.4(COL1A1):c.698G>A (p.Gly233Glu)	1277	COL1A1	Likely pathogenic	2144584170	RCV001988650;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48274593	48274593	48274593	-
NM_000088.4(COL1A1):c.697-1G>C	1277	COL1A1	Pathogenic	67163049	RCV000703698\|RCV001592900;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN517202	17	48274595	48274595	17:g.48274595C>G	-	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.697-1G>A	1277	COL1A1	Pathogenic	67163049	RCV000705639;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48274595	48274595	NC_000017.10:g.48274595C>T	-	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.697-2_697-1del	1277	COL1A1	Pathogenic	67163050	RCV001948547;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48274595	48274596	48274594	-
NM_000088.4(COL1A1):c.697-2A>C	1277	COL1A1	Pathogenic	-1	RCV002471342;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48274596	48274596	NC_000017.10:g.48274596T>G	-
NM_000088.4(COL1A1):c.697-2del	1277	COL1A1	Pathogenic	-1	RCV003041319;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48274596	48274596	NC_000017.10:g.48274596del	-
NM_000088.4(COL1A1):c.697-7C>T	1277	COL1A1	Likely benign	768782428	RCV001435705;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48274601	48274601	48274601	-
NM_000088.4(COL1A1):c.696+5del	1277	COL1A1	Uncertain significance	-1	RCV003313757;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48275088	48275088		-
NM_000088.4(COL1A1):c.696+1G>A	1277	COL1A1	Pathogenic	2144585785	RCV001894604;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48275092	48275092	48275092	-
NM_000088.4(COL1A1):c.690A>G (p.Gly230=)	1277	COL1A1	Likely benign	776786081	RCV000966500\|RCV002363482;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN230736	17	48275099	48275099	17:g.48275099T>C	-
NM_000088.4(COL1A1):c.680G>A (p.Gly227Glu)	1277	COL1A1	Likely pathogenic	2144585835	RCV002086743;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48275109	48275109	48275109	-
NM_000088.4(COL1A1):c.679G>A (p.Gly227Arg)	1277	COL1A1	Likely pathogenic	1567763007	RCV000697699;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48275110	48275110	NC_000017.10:g.48275110C>T	-	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.678del (p.Gly227fs)	1277	COL1A1	Pathogenic	1555574638	RCV000552088;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48275111	48275111	17:g.48275111_48275111del	ClinGen:CA658656723	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.677dup (p.Gly227fs)	1277	COL1A1	Pathogenic	1598299754	RCV001963005;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48275111	48275112	48275111	-
NM_000088.4(COL1A1):c.671G>T (p.Gly224Val)	1277	COL1A1	Pathogenic/Likely pathogenic	1555574641	RCV000522435\|RCV000532521;	N	MedGen:CN517202\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48275118	48275118	17:g.48275118C>A	ClinGen:CA400224671	CN517202 not provided;
NM_000088.4(COL1A1):c.671G>C (p.Gly224Ala)	1277	COL1A1	Pathogenic	-1	RCV003048110;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48275118	48275118	NC_000017.10:g.48275118C>G	-
NM_000088.4(COL1A1):c.670G>T (p.Gly224Cys)	1277	COL1A1	Pathogenic	-1	RCV003041320;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48275119	48275119	NC_000017.10:g.48275119C>A	-
NM_000088.4(COL1A1):c.668C>G (p.Pro223Arg)	1277	COL1A1	Uncertain significance	2144585941	RCV002031612;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48275121	48275121	48275121	-
NM_000088.4(COL1A1):c.663T>C (p.Gly221=)	1277	COL1A1	Likely benign	770083936	RCV002109713\|RCV002363609;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN230736	17	48275126	48275126	48275126	-
NM_000088.4(COL1A1):c.661G>T (p.Gly221Cys)	1277	COL1A1	Pathogenic	72667037	RCV000018861\|RCV001385346;	N	MedGen:C4015950\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48275128	48275128	17:g.48275128C>A	ClinGen:CA127139,OMIM:120150.0038	C4015950 Osteogenesis imperfecta type 1, mild;
NM_000088.4(COL1A1):c.661G>A (p.Gly221Ser)	1277	COL1A1	Pathogenic/Likely pathogenic	72667037	RCV000822915\|RCV002363171;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN230736	17	48275128	48275128	17:g.48275128C>T	-
NM_000088.4(COL1A1):c.658C>T (p.Arg220Ter)	1277	COL1A1	Pathogenic	72667036	RCV000490652\|RCV001003534\|RCV001552353\|RCV002279256;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MONDO:MONDO:0040501,MedGen:CN293783,OMIM:617821\|MedGen:CN517202\|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666	17	48275131	48275131	17:g.48275131G>A	ClinGen:CA291547917	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.655C>T (p.Pro219Ser)	1277	COL1A1	Benign	868168330	RCV000689370;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48275134	48275134	17:g.48275134G>A	-	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.653G>T (p.Gly218Val)	1277	COL1A1	Pathogenic	-1	RCV003087405;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48275136	48275136	NC_000017.10:g.48275136C>A	-
NM_000088.4(COL1A1):c.652G>C (p.Gly218Arg)	1277	COL1A1	Pathogenic	2144586064	RCV001972783;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48275137	48275137	48275137	-
NM_000088.4(COL1A1):c.652G>T (p.Gly218Cys)	1277	COL1A1	Pathogenic	2144586064	RCV001941513;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48275137	48275137	48275137	-
NM_000088.4(COL1A1):c.650T>C (p.Met217Thr)	1277	COL1A1	Uncertain significance	2144586081	RCV002029428;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48275139	48275139	48275139	-
NM_000088.4(COL1A1):c.644G>T (p.Gly215Val)	1277	COL1A1	Likely pathogenic	1907723511	RCV001330773;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48275145	48275145	48275145	-
NM_000088.4(COL1A1):c.643-1G>A	1277	COL1A1	Likely pathogenic	2144586155	RCV001823795;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48275147	48275147	48275147	-
NM_000088.4(COL1A1):c.643-9C>A	1277	COL1A1	Likely benign	1907724010	RCV002158350;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48275155	48275155	48275155	-
NM_000088.4(COL1A1):c.643-11A>G	1277	COL1A1	Likely benign	1454517926	RCV002120159;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48275157	48275157	48275157	-
NM_000088.4(COL1A1):c.643-15T>C	1277	COL1A1	Likely benign	1907724881	RCV002123414;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48275161	48275161	48275161	-
NM_000088.4(COL1A1):c.643-17T>C	1277	COL1A1	Likely benign	-1	RCV002745355;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48275163	48275163	NC_000017.10:g.48275163A>G	-
NM_000088.4(COL1A1):c.642+18A>C	1277	COL1A1	Benign	16948767	RCV000252286\|RCV002057298;	N	MedGen:CN169374\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48275292	48275292	NC_000017.10:g.48275292T>G	ClinGen:CA8645625	CN169374 not specified;
NM_000088.4(COL1A1):c.642+14A>G	1277	COL1A1	Likely benign	-1	RCV002947885;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48275296	48275296	NC_000017.10:g.48275296T>C	-
NM_000088.4(COL1A1):c.642+11T>C	1277	COL1A1	Benign/Likely benign	376087528	RCV000608424\|RCV002066711;	N	MedGen:CN169374\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48275299	48275299	17:g.48275299A>G	ClinGen:CA8645627	CN169374 not specified;
NM_000088.4(COL1A1):c.642+8C>T	1277	COL1A1	Likely benign	1003565350	RCV001423852;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48275302	48275302	48275302	-
NM_000088.4(COL1A1):c.622_642+3delinsGGGGGGAGCACTGTATAG	1277	COL1A1	Pathogenic	-1	RCV002918750;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48275307	48275330	NC_000017.10:g.48275307_48275330delinsCTATACAGTGCTCCCCCC	-
NM_000088.4(COL1A1):c.642+2T>A	1277	COL1A1	Pathogenic	2144586769	RCV001387639;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48275308	48275308	48275308	-
NM_000088.4(COL1A1):c.639T>A (p.Ala213=)	1277	COL1A1	Likely benign	-1	RCV002932524;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48275313	48275313		-
NM_000088.4(COL1A1):c.634G>A (p.Gly212Arg)	1277	COL1A1	Pathogenic	-1	RCV003050488;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48275318	48275318	NC_000017.10:g.48275318C>T	-
NM_000088.4(COL1A1):c.632C>T (p.Pro211Leu)	1277	COL1A1	Likely benign	892540136	RCV001957820;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48275320	48275320	48275320	-
NM_000088.4(COL1A1):c.628G>A (p.Glu210Lys)	1277	COL1A1	Uncertain significance	766407680	RCV001996834\|RCV002361290;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN230736	17	48275324	48275324	48275324	-
NM_000088.4(COL1A1):c.627C>A (p.Gly209=)	1277	COL1A1	Likely benign	201136122	RCV002098857\|RCV003289454;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN230736	17	48275325	48275325	48275325	-
NM_000088.4(COL1A1):c.627C>G (p.Gly209=)	1277	COL1A1	Likely benign	-1	RCV002918751;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48275325	48275325		-
NM_000088.4(COL1A1):c.626G>C (p.Gly209Ala)	1277	COL1A1	Likely pathogenic	1907746069	RCV001214471;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48275326	48275326	17:g.48275326C>G	-
NM_000088.4(COL1A1):c.626G>A (p.Gly209Asp)	1277	COL1A1	Pathogenic	1907746069	RCV001932679;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48275326	48275326	48275326	-
NM_000088.4(COL1A1):c.625G>A (p.Gly209Ser)	1277	COL1A1	Likely pathogenic	2144586877	RCV001993859;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48275327	48275327	48275327	-
NM_000088.4(COL1A1):c.622C>G (p.Pro208Ala)	1277	COL1A1	Benign	-1	RCV002599217;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48275330	48275330	NC_000017.10:g.48275330G>C	-
NM_000088.4(COL1A1):c.614dup (p.Gly206fs)	1277	COL1A1	Pathogenic	72667033	RCV001269980\|RCV001880201;	N	MedGen:CN517202\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48275337	48275338	17:g.48275337_48275338insG	-
NM_000088.4(COL1A1):c.614del (p.Pro205fs)	1277	COL1A1	Pathogenic	-1	RCV003064472;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48275338	48275338	NC_000017.10:g.48275342del	-
NM_000088.4(COL1A1):c.613C>G (p.Pro205Ala)	1277	COL1A1	Conflicting interpretations of pathogenicity	72667032	RCV000203035\|RCV000224220\|RCV000487429\|RCV000659348\|RCV001082142\|RCV001124960\|RCV001124961\|RCV002277557\|RCV002354572;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MONDO:MONDO:0003900,MedGen:C0009782\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MONDO:MONDO:0007525,MedGen:C4551	17	48275339	48275339	NC_000017.10:g.48275339G>C	ClinGen:CA249240	C0009782 Connective tissue disorder;
NM_000088.4(COL1A1):c.612C>T (p.Pro204=)	1277	COL1A1	Benign/Likely benign	138078016	RCV000029581\|RCV000538715\|RCV000611574\|RCV001701642\|RCV002354171;	N	MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN169374\|MedGen:C3661900\|MedGen:CN230736	17	48275340	48275340	17:g.48275340G>A	ClinGen:CA260321	CN169374 not specified;
NM_000088.4(COL1A1):c.608G>T (p.Gly203Val)	1277	COL1A1	Pathogenic	72667031	RCV000526144\|RCV001580124;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN517202	17	48275344	48275344	17:g.48275344C>A	ClinGen:CA291548107	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.607G>A (p.Gly203Ser)	1277	COL1A1	Pathogenic	72667030	RCV001065490;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48275345	48275345	17:g.48275345C>T	-
NM_000088.4(COL1A1):c.607G>C (p.Gly203Arg)	1277	COL1A1	Pathogenic/Likely pathogenic	72667030	RCV001888079\|RCV003136207;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:C3661900	17	48275345	48275345	48275345	-
NM_000088.4(COL1A1):c.599G>T (p.Gly200Val)	1277	COL1A1	Pathogenic/Likely pathogenic	72667029	RCV000631480\|RCV001091446\|RCV003444610;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:C3661900\|MONDO:MONDO:0007525,MedGen:C4551623,OMIM:130060, Orphanet:1899, Orphanet:99875, Orphanet:99876	17	48275353	48275353	NC_000017.10:g.48275353C>A	ClinGen:CA291548113	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.597dup (p.Gly200fs)	1277	COL1A1	Pathogenic	2144587059	RCV001970081;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48275354	48275355	48275354	-
NM_000088.4(COL1A1):c.595C>T (p.Gln199Ter)	1277	COL1A1	Pathogenic	2144587073	RCV001386077\|RCV001563408;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:C3661900	17	48275357	48275357	48275357	-
NM_000088.4(COL1A1):c.590G>T (p.Gly197Val)	1277	COL1A1	Pathogenic/Likely pathogenic	72667028	RCV001823557\|RCV002264392;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:C3661900	17	48275362	48275362	48275362	-
NM_000088.4(COL1A1):c.590G>C (p.Gly197Ala)	1277	COL1A1	Pathogenic	-1	RCV003112387;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48275362	48275362	NC_000017.10:g.48275362C>G	-
NM_000088.4(COL1A1):c.589G>T (p.Gly197Cys)	1277	COL1A1	Pathogenic	8179178	RCV000490693\|RCV001269743;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN517202	17	48275363	48275363	17:g.48275363C>A	ClinGen:CA291548135	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.589-2A>G	1277	COL1A1	Pathogenic	72667027	RCV001874377;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48275365	48275365	48275365	-
NM_000088.4(COL1A1):c.589-13C>T	1277	COL1A1	Likely benign	-1	RCV002988519;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48275376	48275376	NC_000017.10:g.48275376G>A	-
NM_000088.4(COL1A1):c.589-18T>G	1277	COL1A1	Benign	775985897	RCV002168347;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48275381	48275381	48275381	-
NM_000088.4(COL1A1):c.589-19C>A	1277	COL1A1	Likely benign	-1	RCV002575677;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48275382	48275382	NC_000017.10:g.48275382G>T	-
NM_000088.4(COL1A1):c.589-20T>C	1277	COL1A1	Likely benign	370564344	RCV000600798\|RCV002065326\|RCV002506468;	N	MedGen:CN169374\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|8 conditions	17	48275383	48275383	17:g.48275383A>G	ClinGen:CA8645644	CN169374 not specified;
NC_000017.11:g.(?_50198141)_(50198524_?)del	1277	COL1A1	Likely pathogenic	-1	RCV000631516;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48275502	48275885		-	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.588+16G>A	1277	COL1A1	Benign/Likely benign	191715075	RCV000443860\|RCV000991598\|RCV002062327\|RCV002502504;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|8 conditions	17	48275506	48275506	17:g.48275506C>T	ClinGen:CA8645655	CN169374 not specified;
NM_000088.4(COL1A1):c.588+15C>T	1277	COL1A1	Likely benign	371817394	RCV000607653\|RCV001811102\|RCV002064177;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48275507	48275507	17:g.48275507G>A	ClinGen:CA8645657	CN169374 not specified;
NM_000088.4(COL1A1):c.588+15C>G	1277	COL1A1	Likely benign	371817394	RCV002206950;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48275507	48275507	48275507	-
NM_000088.4(COL1A1):c.588+5G>A	1277	COL1A1	Pathogenic	-1	RCV003050489;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48275517	48275517	NC_000017.10:g.48275517C>T	-
NM_000088.4(COL1A1):c.588+5G>C	1277	COL1A1	Uncertain significance	-1	RCV002872539;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48275517	48275517	NC_000017.10:g.48275517C>G	-
NM_000088.4(COL1A1):c.588+1G>A	1277	COL1A1	Conflicting interpretations of pathogenicity	72667025	RCV001994477\|RCV002276952;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666	17	48275521	48275521	48275521	-
NM_000088.4(COL1A1):c.582del (p.Ala195fs)	1277	COL1A1	Pathogenic	2144587690	RCV001962984;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48275528	48275528	48275527	-
NM_000088.4(COL1A1):c.579del (p.Gly194fs)	1277	COL1A1	Pathogenic/Likely pathogenic	72667023	RCV000029580\|RCV000490677\|RCV000627432\|RCV001526512;	N	MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN517202\|MONDO:MONDO:0008159,MedGen:C0029458	17	48275531	48275531	17:g.48275531_48275531del	ClinGen:CA260320	CN517202 not provided;
NM_000088.4(COL1A1):c.578dup (p.Gly194fs)	1277	COL1A1	Pathogenic	1598300304	RCV001008205\|RCV000803055;	N	MedGen:CN517202\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48275531	48275532	17:g.48275531_48275532insG	-
NM_000088.4(COL1A1):c.578del (p.Pro193fs)	1277	COL1A1	Pathogenic/Likely pathogenic	1598300304	RCV001547132\|RCV002032566;	N	MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48275532	48275532	48275531	-
NM_000088.4(COL1A1):c.577_578del (p.Pro193fs)	1277	COL1A1	Pathogenic	-1	RCV002833180;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48275532	48275533	NC_000017.10:g.48275536_48275537del	-
NM_000088.4(COL1A1):c.577C>G (p.Pro193Ala)	1277	COL1A1	Uncertain significance	2144587738	RCV001910301;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48275533	48275533	48275533	-
NM_000088.4(COL1A1):c.576C>T (p.Pro192=)	1277	COL1A1	Likely benign	747650152	RCV002098254;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48275534	48275534	48275534	-
NM_000088.4(COL1A1):c.572G>C (p.Gly191Ala)	1277	COL1A1	Likely pathogenic	67828806	RCV000018875\|RCV001242940;	N	MedGen:C4015950\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48275538	48275538	17:g.48275538C>G	ClinGen:CA127143,OMIM:120150.0052	C4015950 Osteogenesis imperfecta type 1, mild;
NM_000088.4(COL1A1):c.572del (p.Gly191fs)	1277	COL1A1	Pathogenic	1567763447	RCV000705305;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48275538	48275538	NC_000017.10:g.48275539del	-	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.572G>T (p.Gly191Val)	1277	COL1A1	Likely pathogenic	67828806	RCV001089659;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48275538	48275538	17:g.48275538C>A	-
NM_000088.4(COL1A1):c.571G>A (p.Gly191Ser)	1277	COL1A1	Pathogenic	1567763451	RCV000697426;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48275539	48275539	NC_000017.10:g.48275539C>T	-	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.569del (p.Pro190fs)	1277	COL1A1	Pathogenic	-1	RCV003064473;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48275541	48275541	NC_000017.10:g.48275543del	-
NM_000088.3(COL1A1):c.563_564delinsA (p.Gly188fs)	1277	COL1A1	Pathogenic	1555574802	RCV000554808\|RCV001508820;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN517202	17	48275546	48275547	NC_000017.10:g.48275546_48275547delinsT	ClinGen:CA658656724	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.563G>A (p.Gly188Asp)	1277	COL1A1	Pathogenic/Likely pathogenic	1114167408	RCV000490656\|RCV001270300\|RCV002350082;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MONDO:MONDO:0030854,MedGen:C5436842,OMIM:619115\|MedGen:CN230736	17	48275547	48275547	17:g.48275547C>T	ClinGen:CA400225653,LOVD 3:COL1A1_00706,OMIM:120150.0072	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.557C>T (p.Pro186Leu)	1277	COL1A1	Uncertain significance	1555574809	RCV000631481;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48275553	48275553	NC_000017.10:g.48275553G>A	ClinGen:CA400225686	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.549C>T (p.Pro183=)	1277	COL1A1	Likely benign	1250249821	RCV002141128\|RCV002346518;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN230736	17	48275561	48275561	48275561	-
NM_000088.4(COL1A1):c.544-2del	1277	COL1A1	Likely pathogenic	2144587964	RCV002027306;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48275568	48275568	48275567	-
NM_000088.4(COL1A1):c.544-4A>G	1277	COL1A1	Likely benign	369898579	RCV000604762\|RCV002529682;	N	MedGen:CN169374\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48275570	48275570	17:g.48275570T>C	ClinGen:CA8645664	CN169374 not specified;
NM_000088.4(COL1A1):c.544-19dup	1277	COL1A1	Benign	-1	RCV003069855;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48275584	48275585	NC_000017.10:g.48275590dup	-
NM_000088.4(COL1A1):c.543+18G>C	1277	COL1A1	Likely benign	-1	RCV003009780;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48275776	48275776	NC_000017.10:g.48275776C>G	-
NM_000088.4(COL1A1):c.543+10C>T	1277	COL1A1	Likely benign	376260945	RCV000706975;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48275784	48275784	NC_000017.10:g.48275784G>A	-	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.543+9G>A	1277	COL1A1	Likely benign	111549032	RCV001447516;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48275785	48275785	48275785	-
NM_000088.4(COL1A1):c.543+5G>A	1277	COL1A1	Pathogenic	1907787005	RCV001054386;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48275789	48275789	17:g.48275789C>T	-
NM_000088.4(COL1A1):c.543+5G>C	1277	COL1A1	Uncertain significance	1907787005	RCV001219274;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48275789	48275789	17:g.48275789C>G	-
NM_000088.4(COL1A1):c.543+4A>G	1277	COL1A1	Uncertain significance	1555574855	RCV000631489;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48275790	48275790	NC_000017.10:g.48275790T>C	ClinGen:CA658798904	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.543+1G>T	1277	COL1A1	Pathogenic	2144588841	RCV001887796;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48275793	48275793	48275793	-
NM_000088.4(COL1A1):c.543G>A (p.Met181Ile)	1277	COL1A1	Pathogenic/Likely pathogenic	72667022	RCV000018852\|RCV001851923;	N	MONDO:MONDO:0007525,MedGen:C4551623,OMIM:130060, Orphanet:1899, Orphanet:99875, Orphanet:99876\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48275794	48275794	17:g.48275794C>T	ClinGen:CA10575534,OMIM:120150.0026	C0268345 130060 Ehlers-Danlos syndrome, procollagen proteinase deficient;
NM_000088.4(COL1A1):c.517G>T (p.Gly173Ter)	1277	COL1A1	Pathogenic/Likely pathogenic	193922157	RCV000029579\|RCV001852590;	N	MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48275820	48275820	17:g.48275820C>A	ClinGen:CA260317	C0029434 Osteogenesis imperfecta;
NM_000088.4(COL1A1):c.516C>T (p.Thr172=)	1277	COL1A1	Conflicting interpretations of pathogenicity	377195143	RCV000597852\|RCV001439435\|RCV003302912;	N	MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN230736	17	48275821	48275821	17:g.48275821G>A	ClinGen:CA8645684	CN169374 not specified;
NM_000088.4(COL1A1):c.514del (p.Thr172fs)	1277	COL1A1	Pathogenic	-1	RCV002289001;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48275823	48275823	48275822	-
NM_000088.4(COL1A1):c.510del (p.Lys170fs)	1277	COL1A1	Pathogenic	1907793241	RCV001203335;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48275827	48275827	17:g.48275827_48275827del	-
NM_000088.4(COL1A1):c.504T>G (p.Asp168Glu)	1277	COL1A1	Likely benign	368246367	RCV001048014;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48275833	48275833	17:g.48275833A>C	-
NM_000088.4(COL1A1):c.501T>C (p.Tyr167=)	1277	COL1A1	Likely benign	946705319	RCV001483628;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48275836	48275836	48275836	-
NM_000088.4(COL1A1):c.481_499dup (p.Tyr167fs)	1277	COL1A1	Pathogenic	1555574871	RCV000631471;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48275837	48275838	NC_000017.10:g.48275841_48275859dup	ClinGen:CA658798905	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.497G>T (p.Gly166Val)	1277	COL1A1	Uncertain significance	372514953	RCV001360670;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48275840	48275840	48275840	-
NM_000088.4(COL1A1):c.488T>C (p.Leu163Pro)	1277	COL1A1	Uncertain significance	-1	RCV003023615;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48275849	48275849	NC_000017.10:g.48275849A>G	-
NM_000088.4(COL1A1):c.483C>G (p.Pro161=)	1277	COL1A1	Likely benign	1304069206	RCV002143473;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48275854	48275854	48275854	-
NM_000088.4(COL1A1):c.481C>T (p.Pro161Ser)	1277	COL1A1	Likely benign	764071315	RCV001314930;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48275856	48275856	48275856	-
NM_000088.4(COL1A1):c.472-4C>G	1277	COL1A1	Conflicting interpretations of pathogenicity	753888456	RCV000733969\|RCV001494908;	N	MedGen:CN517202\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48275869	48275869	NC_000017.10:g.48275869G>C	-
NM_000088.4(COL1A1):c.472-4C>A	1277	COL1A1	Likely benign	753888456	RCV002204923;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48275869	48275869	48275869	-
NM_000088.4(COL1A1):c.472-13_472-12del	1277	COL1A1	Likely benign	1210027118	RCV001811818\|RCV002074158;	N	MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48275877	48275878	48275876	-
NM_000088.4(COL1A1):c.472-13T>C	1277	COL1A1	Likely benign	-1	RCV002847771;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48275878	48275878	NC_000017.10:g.48275878A>G	-
NM_000088.4(COL1A1):c.471+14C>G	1277	COL1A1	Likely benign	774281966	RCV001697354\|RCV002062966;	N	MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48276573	48276573	17:g.48276573G>C	ClinGen:CA8645697	CN169374 not specified;
NM_000088.4(COL1A1):c.471+9AG[4]	1277	COL1A1	Likely benign	-1	RCV003092580;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48276574	48276575	NC_000017.10:g.48276576TC[4]	-
NM_000088.4(COL1A1):c.471+6T>C	1277	COL1A1	Uncertain significance	1276599083	RCV001769379\|RCV001868606;	N	MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48276581	48276581	48276581	-
NM_000088.4(COL1A1):c.471+5G>T	1277	COL1A1	Uncertain significance	1555575015	RCV000631467;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48276582	48276582	17:g.48276582C>A	ClinGen:CA658798906	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.471+5G>A	1277	COL1A1	Uncertain significance	1555575015	RCV002030041;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48276582	48276582	48276582	-
NM_000088.4(COL1A1):c.465C>T (p.Leu155=)	1277	COL1A1	Likely benign	1229801664	RCV002103060;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48276593	48276593	48276593	-
NM_000088.4(COL1A1):c.462C>A (p.Gly154=)	1277	COL1A1	Likely benign	-1	RCV002342551\|RCV003096384;	N	MedGen:CN230736\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48276596	48276596		-
NM_000088.4(COL1A1):c.458dup (p.Gly154fs)	1277	COL1A1	Pathogenic	1114167407	RCV000490728\|RCV000523488;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN517202	17	48276599	48276600	17:g.48276599_48276600insG	ClinGen:CA645293910	CN517202 not provided;
NM_000088.4(COL1A1):c.458del (p.Pro153fs)	1277	COL1A1	Pathogenic	1114167407	RCV000814019;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48276600	48276600	17:g.48276600_48276600del	-
NM_000088.4(COL1A1):c.441_458del (p.143PPG[2])	1277	COL1A1	Uncertain significance	1315804923	RCV000799052;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48276600	48276617	17:g.48276600_48276617del	-
NM_000088.4(COL1A1):c.432_458del (p.143PPG[1])	1277	COL1A1	Uncertain significance	2144590892	RCV001943973;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48276600	48276626	48276599	-
NM_000088.4(COL1A1):c.447TCCCGGACC[3] (p.143PPG[6])	1277	COL1A1	Uncertain significance	1333144999	RCV002029284;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48276602	48276603	48276602	-
NM_000088.4(COL1A1):c.447_455del (p.143PPG[3])	1277	COL1A1	Uncertain significance	-1	RCV002629491;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48276603	48276611	NC_000017.10:g.48276611_48276619del	-
NM_000088.4(COL1A1):c.454C>A (p.Pro152Thr)	1277	COL1A1	Uncertain significance	1221734311	RCV001933906;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48276604	48276604	48276604	-
NM_000088.4(COL1A1):c.452dup (p.Pro152fs)	1277	COL1A1	Pathogenic	2144590955	RCV002273185;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48276605	48276606	48276605	-
NM_000088.4(COL1A1):c.429CCCCGGACC[3] (p.143PPG[5])	1277	COL1A1	Conflicting interpretations of pathogenicity	769867566	RCV001497952\|RCV001562648;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:C3661900	17	48276611	48276612	48276611	-
NM_000088.4(COL1A1):c.429CCCCGGACC[1] (p.143PPG[3])	1277	COL1A1	Conflicting interpretations of pathogenicity	769867566	RCV000688087\|RCV001584559\|RCV002331337;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN517202\|MedGen:CN230736	17	48276612	48276620	NC_000017.10:g.48276620GGGTCCGGG[1]	-	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.441del (p.Gly148fs)	1277	COL1A1	Pathogenic/Likely pathogenic	1473458290	RCV000816871\|RCV000991597;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN517202	17	48276617	48276617	17:g.48276617_48276617del	-
NM_000088.4(COL1A1):c.441C>T (p.Pro147=)	1277	COL1A1	Likely benign	1156978524	RCV002150688;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48276617	48276617	48276617	-
NM_000088.4(COL1A1):c.436C>A (p.Pro146Thr)	1277	COL1A1	Conflicting interpretations of pathogenicity	756846639	RCV000788756\|RCV001370161;	N	MedGen:CN517202\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48276622	48276622	17:g.48276622G>T	-
NM_000088.4(COL1A1):c.436C>G (p.Pro146Ala)	1277	COL1A1	Uncertain significance	756846639	RCV001945398;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48276622	48276622	48276622	-
NM_000088.4(COL1A1):c.436C>T (p.Pro146Ser)	1277	COL1A1	Likely benign	-1	RCV002927536;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48276622	48276622	NC_000017.10:g.48276622G>A	-
NM_000088.4(COL1A1):c.432dup (p.Gly145fs)	1277	COL1A1	Pathogenic	72667016	RCV000490733;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48276625	48276626	17:g.48276625_48276626insG	ClinGen:CA645293911	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.433G>A (p.Gly145Arg)	1277	COL1A1	Uncertain significance	1907850821	RCV001234861\|RCV002286828;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN517202	17	48276625	48276625	17:g.48276625C>T	-
NM_000088.4(COL1A1):c.432del (p.Gly145fs)	1277	COL1A1	Pathogenic	72667016	RCV001863955;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48276626	48276626	48276625	-
NM_000088.4(COL1A1):c.430C>T (p.Pro144Ser)	1277	COL1A1	Uncertain significance	908422422	RCV002548082\|RCV001934881;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48276628	48276628	48276628	-
NM_000088.4(COL1A1):c.429C>T (p.Pro143=)	1277	COL1A1	Likely benign	-1	RCV003066473;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48276629	48276629		-
NM_000088.4(COL1A1):c.428C>G (p.Pro143Arg)	1277	COL1A1	Conflicting interpretations of pathogenicity	941273260	RCV002331431\|RCV001935497\|RCV003416578\|RCV003332359;	N	MedGen:CN230736\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|\|MedGen:C3661900	17	48276630	48276630	48276630	-
NM_000088.4(COL1A1):c.427C>T (p.Pro143Ser)	1277	COL1A1	Conflicting interpretations of pathogenicity	570526849	RCV000798625\|RCV001797144;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:C3661900	17	48276631	48276631	17:g.48276631G>A	-
NM_000088.4(COL1A1):c.424G>A (p.Gly142Arg)	1277	COL1A1	Uncertain significance	1567764128	RCV000688709\|RCV001756170;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN517202	17	48276634	48276634	NC_000017.10:g.48276634C>T	-	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.419_420delinsCC (p.Leu140Pro)	1277	COL1A1	Uncertain significance	1555575068	RCV000548441;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48276638	48276639	NC_000017.10:g.48276638_48276639delinsGG	ClinGen:CA658656725	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.414T>G (p.Pro138=)	1277	COL1A1	Likely benign	2144591197	RCV002120389\|RCV002331752;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN230736	17	48276644	48276644	48276644	-
NM_000088.4(COL1A1):c.409C>T (p.Gln137Ter)	1277	COL1A1	Likely pathogenic	-1	RCV003142472;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48276649	48276649	NC_000017.10:g.48276649G>A	-
NM_000088.4(COL1A1):c.408A>G (p.Gly136=)	1277	COL1A1	Conflicting interpretations of pathogenicity	533127847	RCV001511573\|RCV001719020\|RCV002279424;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:C3661900\|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666	17	48276650	48276650	17:g.48276650T>C	ClinGen:CA8645703	CN169374 not specified;
NM_000088.4(COL1A1):c.405T>C (p.Pro135=)	1277	COL1A1	Likely benign	-1	RCV003063685;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48276653	48276653		-
NM_000088.4(COL1A1):c.401dup (p.Gly136fs)	1277	COL1A1	Pathogenic	-1	RCV002856124;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48276656	48276657	NC_000017.10:g.48276657dup	-
NM_000088.4(COL1A1):c.401T>A (p.Ile134Asn)	1277	COL1A1	Uncertain significance	771647906	RCV001900652\|RCV002276919;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666	17	48276657	48276657	48276657	-
NM_000088.4(COL1A1):c.399C>T (p.Gly133=)	1277	COL1A1	Uncertain significance	775246452	RCV001967483;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48276659	48276659	48276659	-
NM_000088.4(COL1A1):c.394_395del (p.Asp132fs)	1277	COL1A1	Pathogenic	2144591295	RCV001381952;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48276663	48276664	48276662	-
NM_000088.4(COL1A1):c.393A>T (p.Arg131=)	1277	COL1A1	Benign/Likely benign	768576692	RCV000945456\|RCV002372646;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN230736	17	48276665	48276665	17:g.48276665T>A	-
NM_000088.4(COL1A1):c.391C>A (p.Arg131=)	1277	COL1A1	Conflicting interpretations of pathogenicity	776611767	RCV001042968\|RCV001352694\|RCV002372774\|RCV003405235;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|\|MedGen:CN230736\|	17	48276667	48276667	17:g.48276667G>T	-
NM_000088.4(COL1A1):c.391C>T (p.Arg131Ter)	1277	COL1A1	Pathogenic	776611767	RCV001235657;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48276667	48276667	17:g.48276667G>A	-
NM_000088.4(COL1A1):c.386dup (p.Gly130fs)	1277	COL1A1	Pathogenic	72667014	RCV000505621\|RCV003222010;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:C3661900	17	48276671	48276672	17:g.48276671_48276672insG	ClinGen:CA645509528	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.387del (p.Gly130fs)	1277	COL1A1	Pathogenic	1555575086	RCV000540153;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48276671	48276671	NC_000017.10:g.48276671del	ClinGen:CA658656726	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.386del (p.Pro129fs)	1277	COL1A1	Pathogenic	72667014	RCV000995512\|RCV003326528;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:C3661900	17	48276672	48276672	17:g.48276672_48276672del	-
NM_000088.4(COL1A1):c.385C>T (p.Pro129Ser)	1277	COL1A1	Uncertain significance	761672800	RCV001249321\|RCV001341233\|RCV001535735\|RCV001562496;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0007244,MedGen:C0020497,OMIM:114000, Orphanet:1310; MONDO:MONDO:0007522,MedGen:C4225429, Orphanet:287; MONDO:MONDO:0007525,MedGen:C4551623,OMIM:130060, Orphanet:1899,Orp	17	48276673	48276673	17:g.48276673G>A	-
NM_000088.4(COL1A1):c.384C>A (p.Pro128=)	1277	COL1A1	Likely benign	1907857933	RCV002190549;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48276674	48276674	48276674	-
NM_000088.4(COL1A1):c.381C>T (p.Gly127=)	1277	COL1A1	Likely benign	-1	RCV002736405;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48276677	48276677		-
NM_000088.4(COL1A1):c.380del (p.Gly127fs)	1277	COL1A1	Pathogenic	2144591470	RCV001950624;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48276678	48276678	48276677	-
NM_000088.4(COL1A1):c.370-1G>T	1277	COL1A1	Pathogenic	2144591532	RCV001932711;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48276689	48276689	48276689	-
NM_000088.4(COL1A1):c.370-1G>A	1277	COL1A1	Pathogenic	2144591532	RCV001941981;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48276689	48276689	48276689	-
NM_000088.4(COL1A1):c.370-2A>T	1277	COL1A1	Likely pathogenic	-1	RCV003333666;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48276690	48276690		-
NM_000088.4(COL1A1):c.370-6del	1277	COL1A1	Benign	35576965	RCV002115752;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48276694	48276694	48276693	-
NM_000088.4(COL1A1):c.370-9C>T	1277	COL1A1	Likely benign	773193800	RCV002076691;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48276697	48276697	48276697	-
NM_000088.4(COL1A1):c.370-17G>A	1277	COL1A1	Likely benign	-1	RCV002603300;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48276705	48276705	NC_000017.10:g.48276705C>T	-
NM_000088.4(COL1A1):c.370-18C>T	1277	COL1A1	Likely benign	-1	RCV002644319;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48276706	48276706	NC_000017.10:g.48276706G>A	-
NM_000088.4(COL1A1):c.369+15C>T	1277	COL1A1	Likely benign	2144591865	RCV002148142;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48276764	48276764	48276764	-
NM_000088.4(COL1A1):c.367A>G (p.Arg123Gly)	1277	COL1A1	Uncertain significance	1907872277	RCV001896850;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48276781	48276781	48276781	-
NM_000088.4(COL1A1):c.358C>T (p.Arg120Ter)	1277	COL1A1	Pathogenic	762979302	RCV000989951\|RCV002250711\|RCV003128733;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MONDO:MONDO:0009804,MedGen:C0268362,OMIM:259420, Orphanet:216812, Orphanet:666\|MedGen:C3661900	17	48276790	48276790	17:g.48276790G>A	-
NM_000088.4(COL1A1):c.351dup (p.Gly118fs)	1277	COL1A1	Pathogenic	-1	RCV002468665;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48276796	48276797	NC_000017.10:g.48276797dup	-
NM_000088.4(COL1A1):c.351T>C (p.Thr117=)	1277	COL1A1	Likely benign	576449536	RCV001941865;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48276797	48276797	48276797	-
NM_000088.4(COL1A1):c.347A>G (p.Asp116Gly)	1277	COL1A1	Uncertain significance	1907874708	RCV001223945\|RCV002245879;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN517202	17	48276801	48276801	17:g.48276801T>C	-
NM_000088.4(COL1A1):c.345A>T (p.Gly115=)	1277	COL1A1	Conflicting interpretations of pathogenicity	1907874908	RCV001903432\|RCV002458773;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN230736	17	48276803	48276803	48276803	-
NM_000088.4(COL1A1):c.344G>A (p.Gly115Glu)	1277	COL1A1	Likely benign	-1	RCV002971956\|RCV003328127;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MONDO:MONDO:0030854,MedGen:C5436842,OMIM:619115	17	48276804	48276804	NC_000017.10:g.48276804C>T	-
NM_000088.4(COL1A1):c.336A>T (p.Gly112=)	1277	COL1A1	Conflicting interpretations of pathogenicity	749946056	RCV001569333\|RCV001839049\|RCV002072194\|RCV002458536;	N	MedGen:C3661900\|MONDO:MONDO:0005453,MedGen:C0152021\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN230736	17	48276812	48276812	48276812	-
NM_000088.4(COL1A1):c.334-1G>A	1277	COL1A1	Pathogenic	1598301459	RCV000823839;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48276815	48276815	17:g.48276815C>T	-
NM_000088.4(COL1A1):c.334-4A>G	1277	COL1A1	Likely benign	200621584	RCV001401066\|RCV002322392;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN230736	17	48276818	48276818	48276818	-
NM_000088.4(COL1A1):c.334-5C>T	1277	COL1A1	Conflicting interpretations of pathogenicity	115997082	RCV002118307\|RCV003161592;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN230736	17	48276819	48276819	48276819	-
NM_000088.4(COL1A1):c.334-6C>T	1277	COL1A1	Likely benign	1598301467	RCV001455151;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48276820	48276820	17:g.48276820G>A	-
NM_000088.4(COL1A1):c.334-9A>G	1277	COL1A1	Pathogenic/Likely pathogenic	1567764387	RCV000690720\|RCV001540744\|RCV002279487;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN517202\|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666	17	48276823	48276823	NC_000017.10:g.48276823T>C	-	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.334-15C>T	1277	COL1A1	Likely benign	-1	RCV002825433;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48276829	48276829	NC_000017.10:g.48276829G>A	-
NM_000088.4(COL1A1):c.334-19T>C	1277	COL1A1	Likely benign	2144592157	RCV002182848;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48276833	48276833	48276833	-
NM_000088.4(COL1A1):c.333+3A>C	1277	COL1A1	Uncertain significance	1555575205	RCV000553996;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48276914	48276914	NC_000017.10:g.48276914T>G	ClinGen:CA658656727	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.333+2T>C	1277	COL1A1	Pathogenic	72667012	RCV000490703;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48276915	48276915	17:g.48276915A>G	ClinGen:CA291550704	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.333+1G>A	1277	COL1A1	Pathogenic	2144592402	RCV001891906;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48276916	48276916	48276916	-
NM_000088.4(COL1A1):c.333+1G>T	1277	COL1A1	Pathogenic	-1	RCV003064475;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48276916	48276916	NC_000017.10:g.48276916C>A	-
NM_000088.4(COL1A1):c.333+1G>C	1277	COL1A1	Pathogenic	-1	RCV002847588;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48276916	48276916	NC_000017.10:g.48276916C>G	-
NM_000088.4(COL1A1):c.333G>A (p.Glu111=)	1277	COL1A1	Pathogenic	2857400	RCV002000147;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48276917	48276917	48276917	-
NM_000088.4(COL1A1):c.328G>A (p.Val110Ile)	1277	COL1A1	Conflicting interpretations of pathogenicity	375823086	RCV001946395\|RCV002276945;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000, Orphanet:98249	17	48276922	48276922	48276922	-
NM_000088.4(COL1A1):c.326G>A (p.Gly109Asp)	1277	COL1A1	Conflicting interpretations of pathogenicity	372159426	RCV001920830\|RCV002276929;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000, Orphanet:98249	17	48276924	48276924	48276924	-
NM_000088.4(COL1A1):c.325G>C (p.Gly109Arg)	1277	COL1A1	Conflicting interpretations of pathogenicity	762315953	RCV000871724\|RCV001400552;	N	MedGen:CN517202\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48276925	48276925	17:g.48276925C>G	-
NM_000088.4(COL1A1):c.325G>A (p.Gly109Ser)	1277	COL1A1	Uncertain significance	762315953	RCV002014812\|RCV003225208;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:C3661900	17	48276925	48276925	48276925	-
NM_000088.4(COL1A1):c.324C>T (p.Thr108=)	1277	COL1A1	Likely benign	1193008069	RCV001476818;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48276926	48276926	17:g.48276926G>A	-
NM_000088.4(COL1A1):c.319ACC[1] (p.Thr108del)	1277	COL1A1	Uncertain significance	-1	RCV003020890;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48276926	48276928	NC_000017.10:g.48276926GGT[1]	-
NM_000088.4(COL1A1):c.319_322dup (p.Thr108fs)	1277	COL1A1	Pathogenic	-1	RCV002472216;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48276927	48276928	NC_000017.10:g.48276929_48276932dup	-
NM_000088.4(COL1A1):c.321C>T (p.Thr107=)	1277	COL1A1	Likely benign	-1	RCV003082992;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48276929	48276929		-
NM_000088.4(COL1A1):c.316dup (p.Glu106fs)	1277	COL1A1	Likely pathogenic	-1	RCV002467485;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48276933	48276934	NC_000017.10:g.48276934dup	-
NM_000088.4(COL1A1):c.316G>T (p.Glu106Ter)	1277	COL1A1	Pathogenic	2144592516	RCV002225154;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48276934	48276934	48276934	-
NM_000088.4(COL1A1):c.310_313del (p.Asp104fs)	1277	COL1A1	Pathogenic	1907889665	RCV001038837;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48276937	48276940	17:g.48276937_48276940del	-
NM_000088.4(COL1A1):c.313C>T (p.Gln105Ter)	1277	COL1A1	Pathogenic/Likely pathogenic	-1	RCV003044639\|RCV003138459;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN517202	17	48276937	48276937	NC_000017.10:g.48276937G>A	-
NM_000088.4(COL1A1):c.308C>T (p.Thr103Ile)	1277	COL1A1	Uncertain significance	369883704	RCV000792473;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48276942	48276942	17:g.48276942G>A	-
NM_000088.4(COL1A1):c.299-1G>C	1277	COL1A1	Pathogenic	-1	RCV003064476;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48276952	48276952	NC_000017.10:g.48276952C>G	-
NM_000088.4(COL1A1):c.299-3T>G	1277	COL1A1	Uncertain significance	1598301620	RCV000794621;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48276954	48276954	17:g.48276954A>C	-
NM_000088.4(COL1A1):c.299-4C>T	1277	COL1A1	Likely benign	780745594	RCV002203742\|RCV002292690;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:C3661900	17	48276955	48276955	48276955	-
NM_000088.4(COL1A1):c.299-9G>T	1277	COL1A1	Conflicting interpretations of pathogenicity	373041336	RCV000593836\|RCV001444817\|RCV002279374;	N	MedGen:CN517202\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000, Orphanet:98249	17	48276960	48276960	17:g.48276960C>A	ClinGen:CA8645764	CN169374 not specified;
NM_000088.4(COL1A1):c.298+10_298+43del	1277	COL1A1	Likely benign	-1	RCV003031562;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48277071	48277104	NC_000017.10:g.48277074_48277107del	-
NM_000088.4(COL1A1):c.298+18G>A	1277	COL1A1	Likely benign	-1	RCV002599071;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48277096	48277096	NC_000017.10:g.48277096C>T	-
NM_000088.4(COL1A1):c.298+16G>A	1277	COL1A1	Likely benign	372943378	RCV002219597;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48277098	48277098	48277098	-
NM_000088.4(COL1A1):c.298+15G>C	1277	COL1A1	Likely benign	-1	RCV003084223;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48277099	48277099	NC_000017.10:g.48277099C>G	-
NM_000088.4(COL1A1):c.298+6G>T	1277	COL1A1	Uncertain significance	753705753	RCV000705626;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48277108	48277108	NC_000017.10:g.48277108C>A	-	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.295_298+4dup	1277	COL1A1	Uncertain significance	2144593648	RCV001912444;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48277109	48277110	48277109	-
NM_000088.4(COL1A1):c.298+2T>A	1277	COL1A1	Pathogenic	-1	RCV003014779;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48277112	48277112	NC_000017.10:g.48277112A>T	-
NM_000088.4(COL1A1):c.298+1G>A	1277	COL1A1	Pathogenic	2144593670	RCV001983866;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48277113	48277113	48277113	-
NM_000088.4(COL1A1):c.298G>T (p.Glu100Ter)	1277	COL1A1	Likely pathogenic	2144593675	RCV002266131;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48277114	48277114	48277114	-
NM_000088.4(COL1A1):c.294C>T (p.Gly98=)	1277	COL1A1	Likely benign	-1	RCV002741958;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48277118	48277118		-
NM_000088.4(COL1A1):c.197_293del (p.Gly66fs)	1277	COL1A1	Pathogenic	-1	RCV002862361;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48277119	48277215	NC_000017.10:g.48277120_48277216del	-
NM_000088.4(COL1A1):c.291del (p.Asp97fs)	1277	COL1A1	Pathogenic	-1	RCV002858448;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48277121	48277121	NC_000017.10:g.48277121del	-
NM_000088.4(COL1A1):c.290A>G (p.Asp97Gly)	1277	COL1A1	Uncertain significance	758351823	RCV001245549;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48277122	48277122	17:g.48277122T>C	-
NM_000088.4(COL1A1):c.288del (p.Asp97fs)	1277	COL1A1	Pathogenic	2144593759	RCV001389739\|RCV002499816\|RCV002438893;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|8 conditions\|MedGen:CN230736	17	48277124	48277124	48277123	-
NM_000088.4(COL1A1):c.287C>T (p.Pro96Leu)	1277	COL1A1	Uncertain significance	747163212	RCV001210575\|RCV003317451;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN517202	17	48277125	48277125	17:g.48277125G>A	-
NM_000088.4(COL1A1):c.276T>A (p.Cys92Ter)	1277	COL1A1	Pathogenic	1907921633	RCV001042084;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48277136	48277136	17:g.48277136A>T	-
NM_000088.4(COL1A1):c.273dup (p.Cys92fs)	1277	COL1A1	Pathogenic	-1	RCV002867450;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48277138	48277139	NC_000017.10:g.48277139dup	-
NM_000088.4(COL1A1):c.268G>T (p.Glu90Ter)	1277	COL1A1	Pathogenic	748550422	RCV001956530;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48277144	48277144	48277144	-
NM_000088.4(COL1A1):c.262G>T (p.Glu88Ter)	1277	COL1A1	Pathogenic	1555575370	RCV000578718\|RCV000802325;	N	MedGen:CN517202\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48277150	48277150	17:g.48277150C>A	ClinGen:CA400228115	CN517202 not provided;
NM_000088.4(COL1A1):c.261C>G (p.Pro87=)	1277	COL1A1	Likely benign	-1	RCV002791008;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48277151	48277151		-
NM_000088.4(COL1A1):c.260C>T (p.Pro87Leu)	1277	COL1A1	Uncertain significance	926503489	RCV000810189;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48277152	48277152	17:g.48277152G>A	-
NM_000088.4(COL1A1):c.258C>T (p.Val86=)	1277	COL1A1	Likely benign	773763288	RCV002087567\|RCV003365676;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN230736	17	48277154	48277154	48277154	-
NM_000088.4(COL1A1):c.249_252dup (p.Glu85fs)	1277	COL1A1	Pathogenic	-1	RCV002982165;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48277159	48277160	NC_000017.10:g.48277160_48277163dup	-
NM_000088.4(COL1A1):c.251C>G (p.Ala84Gly)	1277	COL1A1	Conflicting interpretations of pathogenicity	775095655	RCV000631478\|RCV001128045\|RCV001128044\|RCV001128046\|RCV001591407\|RCV002431861;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MONDO:MONDO:0007244,MedGen:C0020497,OMIM:114000, Orphanet:1310\|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MONDO:MONDO:0007525,MedGen:C4551623,OM	17	48277161	48277161	NC_000017.10:g.48277161G>C	ClinGen:CA8645804	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.247G>A (p.Gly83Ser)	1277	COL1A1	Likely benign	763855013	RCV001325564;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48277165	48277165	48277165	-
NM_000088.4(COL1A1):c.246C>G (p.Pro82=)	1277	COL1A1	Likely benign	-1	RCV002455535\|RCV003101855;	N	MedGen:CN230736\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48277166	48277166		-
NM_000088.4(COL1A1):c.229G>T (p.Glu77Ter)	1277	COL1A1	Pathogenic	753683126	RCV000631479;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48277183	48277183	17:g.48277183C>A	ClinGen:CA400228227	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.228C>G (p.Asp76Glu)	1277	COL1A1	Uncertain significance	1314366641	RCV000535747;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48277184	48277184	NC_000017.10:g.48277184G>C	ClinGen:CA400228231	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.224G>T (p.Cys75Phe)	1277	COL1A1	Uncertain significance	-1	RCV002823739;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48277188	48277188	NC_000017.10:g.48277188C>A	-
NM_000088.4(COL1A1):c.212dup (p.Asp71fs)	1277	COL1A1	Pathogenic	1567764832	RCV000700526;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48277199	48277200	NC_000017.10:g.48277200dup	-	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.196G>A (p.Gly66Ser)	1277	COL1A1	Uncertain significance	1240249424	RCV001879379;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48277216	48277216	48277216	-
NM_000088.4(COL1A1):c.195C>A (p.Asn65Lys)	1277	COL1A1	Uncertain significance	1907930276	RCV001956036;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48277217	48277217	48277217	-
NM_000088.4(COL1A1):c.189C>A (p.Cys63Ter)	1277	COL1A1	Pathogenic	-1	RCV003064477;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48277223	48277223	NC_000017.10:g.48277223G>T	-
NM_000088.4(COL1A1):c.183C>G (p.Cys61Trp)	1277	COL1A1	Pathogenic	755126464	RCV001901289;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48277229	48277229	48277229	-
NM_000088.4(COL1A1):c.178A>C (p.Ile60Leu)	1277	COL1A1	Uncertain significance	-1	RCV002300040;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48277234	48277234	48277234	-
NM_000088.4(COL1A1):c.176G>C (p.Arg59Pro)	1277	COL1A1	Uncertain significance	2144594400	RCV001995658;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48277236	48277236	48277236	-
NM_000088.4(COL1A1):c.169C>T (p.Pro57Ser)	1277	COL1A1	Uncertain significance	-1	RCV003011753;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48277243	48277243	NC_000017.10:g.48277243G>A	-
NM_000088.4(COL1A1):c.168G>A (p.Glu56=)	1277	COL1A1	Likely benign	371006337	RCV000953944\|RCV002409271;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN230736	17	48277244	48277244	17:g.48277244C>T	-
NM_000088.4(COL1A1):c.164C>A (p.Pro55His)	1277	COL1A1	Uncertain significance	771489142	RCV001233236;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48277248	48277248	17:g.48277248G>T	-
NM_000088.4(COL1A1):c.154_163del (p.Val52fs)	1277	COL1A1	Pathogenic	2144594472	RCV001918522;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48277249	48277258	48277248	-
NM_000088.4(COL1A1):c.158G>A (p.Trp53Ter)	1277	COL1A1	Pathogenic	-1	RCV003112388;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48277254	48277254	NC_000017.10:g.48277254C>T	-
NM_000088.4(COL1A1):c.156G>A (p.Val52=)	1277	COL1A1	Likely benign	1369140907	RCV002116748;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48277256	48277256	48277256	-
NM_000088.4(COL1A1):c.148C>A (p.Arg50=)	1277	COL1A1	Likely benign	1555575425	RCV002193909;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48277264	48277264	48277264	-
NM_000088.4(COL1A1):c.146_147del (p.Asp49fs)	1277	COL1A1	Pathogenic	2144594577	RCV001963267;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48277265	48277266	48277264	-
NM_000088.4(COL1A1):c.144T>A (p.His48Gln)	1277	COL1A1	Conflicting interpretations of pathogenicity	374065372	RCV000819589\|RCV001531431\|RCV002279549\|RCV002279548\|RCV002390684;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:C3661900\|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000, Orphanet:98249\|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MedGen:CN230736	17	48277268	48277268	17:g.48277268A>T	-
NM_000088.4(COL1A1):c.143A>G (p.His48Arg)	1277	COL1A1	Uncertain significance	1273874412	RCV001069144;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48277269	48277269	17:g.48277269T>C	-
NM_000088.4(COL1A1):c.143A>T (p.His48Leu)	1277	COL1A1	Uncertain significance	-1	RCV002297960;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48277269	48277269	48277269	-
NM_000088.4(COL1A1):c.141C>G (p.Tyr47Ter)	1277	COL1A1	Likely pathogenic	-1	RCV002467486;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48277271	48277271	NC_000017.10:g.48277271G>C	-
NM_000088.4(COL1A1):c.138del (p.Arg46fs)	1277	COL1A1	Pathogenic	2144594663	RCV001939139;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48277274	48277274	48277273	-
NM_000088.4(COL1A1):c.133C>G (p.Leu45Val)	1277	COL1A1	Benign/Likely benign	546629502	RCV001577889\|RCV002569095;	N	MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48277279	48277279	48277279	-
NM_000088.4(COL1A1):c.126G>C (p.Gln42His)	1277	COL1A1	Likely benign	1555575436	RCV000631510;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48277286	48277286	NC_000017.10:g.48277286C>G	ClinGen:CA400228656	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.125A>G (p.Gln42Arg)	1277	COL1A1	Likely benign	367643097	RCV000815235;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48277287	48277287	17:g.48277287T>C	-
NM_000088.4(COL1A1):c.121G>A (p.Val41Ile)	1277	COL1A1	Uncertain significance	2144594757	RCV001917749;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48277291	48277291	48277291	-
NM_000088.4(COL1A1):c.121G>T (p.Val41Leu)	1277	COL1A1	Uncertain significance	2144594757	RCV001998806;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48277291	48277291	48277291	-
NM_000088.4(COL1A1):c.111_117del (p.Ile38fs)	1277	COL1A1	Pathogenic	1114167384	RCV000490687;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48277295	48277301	17:g.48277295_48277301del	ClinGen:CA645294116	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.110C>G (p.Pro37Arg)	1277	COL1A1	Uncertain significance	2144594835	RCV002006509;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48277302	48277302	48277302	-
NM_000088.4(COL1A1):c.108A>G (p.Pro36=)	1277	COL1A1	Likely benign	2144594842	RCV002167496;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48277304	48277304	48277304	-
NM_000088.4(COL1A1):c.108del (p.Pro37fs)	1277	COL1A1	Pathogenic	-1	RCV003445221;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48277304	48277304		-
NM_000088.4(COL1A1):c.104-6T>C	1277	COL1A1	Likely benign	2144594883	RCV002081509;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48277314	48277314	48277314	-
NM_000088.4(COL1A1):c.104-8dup	1277	COL1A1	Likely benign	-1	RCV002834693;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48277315	48277316	NC_000017.10:g.48277316dup	-
NM_000088.4(COL1A1):c.104-19C>T	1277	COL1A1	Likely benign	1445327445	RCV002120741;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48277327	48277327	48277327	-
NM_000088.4(COL1A1):c.104-284C>T	1277	COL1A1	Uncertain significance	2144595908	RCV001526437;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48277592	48277592	48277592	-
NM_000088.4(COL1A1):c.104-441G>T	1277	COL1A1	Benign/Likely benign	1800012	RCV001001484\|RCV001517237\|RCV002497319;	N	MedGen:CN169374\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|8 conditions	17	48277749	48277749	17:g.48277749C>A	-
NM_000088.4(COL1A1):c.103+16T>G	1277	COL1A1	Benign	548069648	RCV002164936;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48278756	48278756	48278756	-
NM_000088.4(COL1A1):c.103+13C>G	1277	COL1A1	Likely benign	775514708	RCV002220705;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48278759	48278759	48278759	-
NM_000088.4(COL1A1):c.82_103+11del	1277	COL1A1	Likely pathogenic	2144600020	RCV002028345;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48278761	48278793	48278760	-
NM_000088.4(COL1A1):c.103+3_103+8del	1277	COL1A1	Uncertain significance	-1	RCV002867978;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48278764	48278769	NC_000017.10:g.48278764_48278769del	-
NM_000088.4(COL1A1):c.103+7C>T	1277	COL1A1	Conflicting interpretations of pathogenicity	2144600046	RCV002174611\|RCV002174610;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:C3661900	17	48278765	48278765	48278765	-
NM_000088.4(COL1A1):c.103+5G>A	1277	COL1A1	Likely pathogenic	1555575835	RCV000549872;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48278767	48278767	NC_000017.10:g.48278767C>T	ClinGen:CA658658624	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.103+5G>C	1277	COL1A1	Likely pathogenic	1555575835	RCV001037422;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48278767	48278767	17:g.48278767C>G	-
NM_000088.4(COL1A1):c.103+2T>C	1277	COL1A1	Pathogenic	1908083033	RCV001065489;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48278770	48278770	17:g.48278770A>G	-
NM_000088.4(COL1A1):c.91C>T (p.Gln31Ter)	1277	COL1A1	Pathogenic	794726873	RCV000173063\|RCV001852105;	N	MedGen:CN517202\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48278784	48278784	17:g.48278784G>A	ClinGen:CA274894	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.84C>A (p.Val28=)	1277	COL1A1	Likely benign	-1	RCV003005082;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48278791	48278791		-
NM_000088.4(COL1A1):c.78C>T (p.Gly26=)	1277	COL1A1	Uncertain significance	2144600259	RCV002002731;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48278797	48278797	48278797	-
NM_000088.4(COL1A1):c.77G>A (p.Gly26Asp)	1277	COL1A1	Conflicting interpretations of pathogenicity	151171179	RCV000786920\|RCV001091447\|RCV001122286\|RCV001122288\|RCV001122287\|RCV002279529;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:C3661900\|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MONDO:MONDO:0007244,MedGen:C0020497,OMIM:114000, Orphanet:1310\|MONDO:MONDO:0007525,Me	17	48278798	48278798	17:g.48278798C>T	-
NM_000088.4(COL1A1):c.76G>A (p.Gly26Ser)	1277	COL1A1	Uncertain significance	2144600278	RCV001909334;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48278799	48278799	48278799	-
NM_000088.4(COL1A1):c.73G>A (p.Glu25Lys)	1277	COL1A1	Uncertain significance	-1	RCV002603198;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48278802	48278802	NC_000017.10:g.48278802C>T	-
NM_000088.4(COL1A1):c.71del (p.Glu24fs)	1277	COL1A1	Pathogenic	1908087291	RCV001065011;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48278804	48278804	17:g.48278804_48278804del	-
NM_000088.4(COL1A1):c.71A>G (p.Glu24Gly)	1277	COL1A1	Conflicting interpretations of pathogenicity	-1	RCV002370833\|RCV003098498;	N	MedGen:CN230736\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48278804	48278804	48278804	-
NM_000088.4(COL1A1):c.69A>G (p.Gln23=)	1277	COL1A1	Uncertain significance	780775891	RCV001865007;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48278806	48278806	48278806	-
NM_000088.4(COL1A1):c.64G>C (p.Gly22Arg)	1277	COL1A1	Pathogenic	72667007	RCV001291257\|RCV002543013;	N	\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48278811	48278811	48278811	-
NM_000088.4(COL1A1):c.63C>T (p.His21=)	1277	COL1A1	Likely benign	536939800	RCV002068688\|RCV002363411;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN230736	17	48278812	48278812	17:g.48278812G>A	-
NM_000088.4(COL1A1):c.52_53insA (p.Leu18fs)	1277	COL1A1	Pathogenic	2144600428	RCV001941828;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48278822	48278823	48278822	-
NM_000088.4(COL1A1):c.45C>T (p.Ala15=)	1277	COL1A1	Likely benign	140295356	RCV001464410\|RCV002337006;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN230736	17	48278830	48278830	17:g.48278830G>A	-
NM_000088.4(COL1A1):c.36C>T (p.Leu12=)	1277	COL1A1	Likely benign	748155900	RCV002064716\|RCV002354677;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN230736	17	48278839	48278839	17:g.48278839G>A	-
NM_000088.4(COL1A1):c.35T>G (p.Leu12Arg)	1277	COL1A1	Conflicting interpretations of pathogenicity	1555575857	RCV000525857\|RCV003230531;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN169374	17	48278840	48278840	NC_000017.10:g.48278840A>C	ClinGen:CA400230428	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.35T>C (p.Leu12Pro)	1277	COL1A1	Uncertain significance	1555575857	RCV001223346;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48278840	48278840	17:g.48278840A>G	-
NM_000088.4(COL1A1):c.33C>T (p.Leu11=)	1277	COL1A1	Likely benign	1024499126	RCV001480954\|RCV002456841;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN230736	17	48278842	48278842	48278842	-
NM_000088.4(COL1A1):c.33C>G (p.Leu11=)	1277	COL1A1	Likely benign	1024499126	RCV002095872\|RCV002454438;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN230736	17	48278842	48278842	48278842	-
NM_000088.4(COL1A1):c.23G>A (p.Arg8Gln)	1277	COL1A1	Uncertain significance	1196007286	RCV001221789;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48278852	48278852	17:g.48278852C>T	-
NM_000088.4(COL1A1):c.14del (p.Val5fs)	1277	COL1A1	Pathogenic	2144600691	RCV001953677;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48278861	48278861	48278860	-
NM_000088.4(COL1A1):c.3G>A (p.Met1Ile)	1277	COL1A1	Pathogenic	1567766329	RCV000686962\|RCV001823161;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN517202	17	48278872	48278872	NC_000017.10:g.48278872C>T	-	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.3G>T (p.Met1Ile)	1277	COL1A1	Pathogenic	1567766329	RCV001994619;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48278872	48278872	48278872	-
NM_000088.4(COL1A1):c.2T>C (p.Met1Thr)	1277	COL1A1	Pathogenic	1567766338	RCV000702474;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48278873	48278873	NC_000017.10:g.48278873A>G	-	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.1A>G (p.Met1Val)	1277	COL1A1	Pathogenic	1555575889	RCV000631497\|RCV001796147;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN517202	17	48278874	48278874	17:g.48278874T>C	ClinGen:CA400230611	C0023931 166200 Osteogenesis imperfecta type I;
NM_000088.4(COL1A1):c.1A>C (p.Met1Leu)	1277	COL1A1	Pathogenic	1555575889	RCV001972749;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48278874	48278874	48278874	-
NM_000088.4(COL1A1):c.1A>T (p.Met1Leu)	1277	COL1A1	Pathogenic	-1	RCV002994692;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48278874	48278874	NC_000017.10:g.48278874T>A	-
NM_000088.3(COL1A1):c.-161C>T	1277	COL1A1	Benign	113647555	RCV000731333\|RCV000834549\|RCV001517449;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48279035	48279035	NC_000017.10:g.48279035G>A	-
NC_000007.14:g.(?_94395012)_(94399104_?)del	1278	COL1A2	Pathogenic	-1	RCV000547770\|RCV001865691;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0007522,MedGen:C4225429, Orphanet:287\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94024324	94028416		-	C0268335 130000 Ehlers-Danlos syndrome, classic type;
NC_000007.14:g.(?_94395012)_(94395818_?)del	1278	COL1A2	Pathogenic	-1	RCV000631546\|RCV001868169;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0007522,MedGen:C4225429, Orphanet:287\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94024324	94025130		-	C0268335 130000 Ehlers-Danlos syndrome, classic type;
NC_000007.14:g.(?_94395022)_(94585525_?)dup	1278	COL1A2	Uncertain significance	-1	RCV001031740;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0007522,MedGen:C4225429, Orphanet:287	7	94024334	94214837	-1	-
NC_000007.13:g.(?_94024344)_(94059705_?)dup	1278	COL1A2	Uncertain significance	-1	RCV001930260;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94024344	94059705	-1	-
NM_000089.4(COL1A2):c.32T>C (p.Leu11Ser)	1278	COL1A2	Uncertain significance	-1	RCV003072801;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94024375	94024375	NC_000007.13:g.94024375T>C	-
NM_000089.4(COL1A2):c.36G>C (p.Leu12=)	1278	COL1A2	Likely benign	1584310252	RCV002235889;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94024379	94024379	7:g.94024379G>C	-
NM_000089.4(COL1A2):c.48C>T (p.Thr16=)	1278	COL1A2	Benign/Likely benign	780687409	RCV000680483\|RCV001162376\|RCV001162377\|RCV001697018\|RCV002231246\|RCV002341261;	N	MONDO:MONDO:0003900,MedGen:C0009782\|MONDO:MONDO:0040501,MedGen:CN293783,OMIM:617821\|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666;	7	94024391	94024391	7:g.94024391C>T	ClinGen:CA4346409	C0009782 Connective tissue disorder;
NM_000089.4(COL1A2):c.52T>G (p.Cys18Gly)	1278	COL1A2	Benign	200278401	RCV002231243;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94024395	94024395	7:g.94024395T>G	ClinGen:CA368218869	C0268335 130000 Ehlers-Danlos syndrome, classic type;
NM_000089.4(COL1A2):c.52T>C (p.Cys18Arg)	1278	COL1A2	Uncertain significance	200278401	RCV000764733\|RCV001566493\|RCV002234407;	N	6 conditions\|MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94024395	94024395	NC_000007.13:g.94024395T>C	ClinGen:CA4346410	C0268335 130000 Ehlers-Danlos syndrome, classic type;
NM_000089.4(COL1A2):c.58G>A (p.Ala20Thr)	1278	COL1A2	Uncertain significance	-1	RCV002615360;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94024401	94024401	NC_000007.13:g.94024401G>A	-
NM_000089.4(COL1A2):c.60A>C (p.Ala20=)	1278	COL1A2	Likely benign	779022418	RCV002235815\|RCV002354817\|RCV003432938;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000\|MedGen:CN230736\|MedGen:C3661900	7	94024403	94024403	7:g.94024403A>C	-
NM_000089.4(COL1A2):c.69A>G (p.Gln23=)	1278	COL1A2	Conflicting interpretations of pathogenicity	770754442	RCV001952322\|RCV002361241;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000\|MedGen:CN230736	7	94024412	94024412	94024412	-
NM_000089.4(COL1A2):c.70+8C>T	1278	COL1A2	Likely benign	982206007	RCV002231247;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94024421	94024421	7:g.94024421C>T	ClinGen:CA162902043	C0268335 130000 Ehlers-Danlos syndrome, classic type;
NM_000089.4(COL1A2):c.71-7dup	1278	COL1A2	Benign	144776919	RCV001704771\|RCV002066673;	N	MedGen:C3661900\|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94027043	94027044	NC_000007.13:g.94027053dup	ClinGen:CA4346448	CN169374 not specified;
NM_000089.4(COL1A2):c.71-8_71-7dup	1278	COL1A2	Benign	144776919	RCV002126635;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94027043	94027044	94027043	-
NM_000089.4(COL1A2):c.71-7del	1278	COL1A2	Benign	144776919	RCV000175520\|RCV002516680;	N	MedGen:CN169374\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94027044	94027044	7:g.94027044_94027044del	ClinGen:CA201502	CN169374 not specified;
NM_000089.4(COL1A2):c.71-11T>C	1278	COL1A2	Likely benign	-1	RCV002633946;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94027049	94027049	NC_000007.13:g.94027049T>C	-
NM_000089.4(COL1A2):c.71-10_71-9insC	1278	COL1A2	Likely benign	-1	RCV002604401;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94027050	94027051	NC_000007.13:g.94027050_94027051insC	-
NM_000089.4(COL1A2):c.71-7T>C	1278	COL1A2	Conflicting interpretations of pathogenicity	774842422	RCV002235944\|RCV002279595;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000\|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666	7	94027053	94027053	7:g.94027053T>C	-
NM_000089.4(COL1A2):c.77A>G (p.Gln26Arg)	1278	COL1A2	Uncertain significance	1313865970	RCV001887617;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94027066	94027066	94027066	-
NM_000089.4(COL1A2):c.79G>A (p.Glu27Lys)	1278	COL1A2	Uncertain significance	-1	RCV002621198;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94027068	94027068	NC_000007.13:g.94027068G>A	-
NM_000089.4(COL1A2):c.81G>C (p.Glu27Asp)	1278	COL1A2	Uncertain significance	2115851777	RCV002030273;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94027070	94027070	94027070	-
NM_000089.4(COL1A2):c.81+10A>C	1278	COL1A2	Likely benign	750283092	RCV002240293;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94027080	94027080	94027080	-
NM_000089.4(COL1A2):c.81+10A>G	1278	COL1A2	Likely benign	750283092	RCV002182252;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94027080	94027080	94027080	-
NM_000089.4(COL1A2):c.81+11del	1278	COL1A2	Conflicting interpretations of pathogenicity	193922174	RCV000029612\|RCV000613834\|RCV002513245;	N	MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MedGen:CN169374\|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94027081	94027081	7:g.94027081_94027081del	ClinGen:CA260385	CN169374 not specified;
NM_000089.4(COL1A2):c.81+17_81+18del	1278	COL1A2	Benign	1791612191	RCV002115978;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94027082	94027083	94027081	-
NM_000089.4(COL1A2):c.81+12T>A	1278	COL1A2	Likely benign	-1	RCV002574837;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94027082	94027082	NC_000007.13:g.94027082T>A	-
NM_000089.4(COL1A2):c.81+15T>C	1278	COL1A2	Likely benign	758384218	RCV001730201\|RCV002073412;	N	MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94027085	94027085	94027085	-
NM_000089.4(COL1A2):c.81+18T>A	1278	COL1A2	Likely benign	1183435820	RCV002220281;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94027088	94027088	94027088	-
NC_000007.13:g.(?_94027674)_(94027728_?)del	1278	COL1A2	Uncertain significance	-1	RCV003119285;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94027674	94027728		-
NM_000089.4(COL1A2):c.82-17G>C	1278	COL1A2	Likely benign	-1	RCV002890300;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94027677	94027677	NC_000007.13:g.94027677G>C	-
NM_000089.4(COL1A2):c.82-12A>G	1278	COL1A2	Benign	143689469	RCV000176977\|RCV000310928\|RCV000368020\|RCV000710788\|RCV002054085;	N	MedGen:CN169374\|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MONDO:MONDO:0040501,MedGen:CN293783,OMIM:617821\|MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,	7	94027682	94027682	7:g.94027682A>G	ClinGen:CA202196	C0268345 130060 Ehlers-Danlos syndrome, procollagen proteinase deficient;
NM_000089.4(COL1A2):c.82G>A (p.Glu28Lys)	1278	COL1A2	Uncertain significance	1479695906	RCV001997179;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94027694	94027694	94027694	-
NM_000089.4(COL1A2):c.87T>C (p.Thr29=)	1278	COL1A2	Benign	1801182	RCV000176976\|RCV000275828\|RCV000333509\|RCV001511612\|RCV002444707;	N	MedGen:CN169374\|MONDO:MONDO:0040501,MedGen:CN293783,OMIM:617821\|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,	7	94027699	94027699	7:g.94027699T>C	ClinGen:CA202193	C0268345 130060 Ehlers-Danlos syndrome, procollagen proteinase deficient;
NM_000089.4(COL1A2):c.90A>G (p.Val30=)	1278	COL1A2	Likely benign	766090050	RCV002097893;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94027702	94027702	94027702	-
NM_000089.4(COL1A2):c.96+10C>T	1278	COL1A2	Benign/Likely benign	185341110	RCV000865374\|RCV001698182;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000\|MedGen:C3661900	7	94027718	94027718	7:g.94027718C>T	ClinGen:CA4346480	CN169374 not specified;
NM_000089.4(COL1A2):c.96+15C>T	1278	COL1A2	Likely benign	-1	RCV002711601;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94027723	94027723	NC_000007.13:g.94027723C>T	-
NM_000089.4(COL1A2):c.97-11C>A	1278	COL1A2	Likely benign	1791635232	RCV002161911;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94028350	94028350	94028350	-
NM_000089.4(COL1A2):c.106G>A (p.Gly36Arg)	1278	COL1A2	Uncertain significance	368447157	RCV002241700\|RCV003145519;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:C3661900	7	94028370	94028370	94028370	-
NM_000089.4(COL1A2):c.114A>G (p.Arg38=)	1278	COL1A2	Conflicting interpretations of pathogenicity	1462108134	RCV001164424\|RCV001164425\|RCV002348587\|RCV002559577;	N	MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MONDO:MONDO:0040501,MedGen:CN293783,OMIM:617821\|MedGen:CN230736\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,	7	94028378	94028378	7:g.94028378A>G	-
NM_000089.4(COL1A2):c.121C>T (p.Arg41Cys)	1278	COL1A2	Uncertain significance	769457034	RCV002022573\|RCV002276981;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666	7	94028385	94028385	94028385	-
NM_000089.4(COL1A2):c.122G>A (p.Arg41His)	1278	COL1A2	Benign/Likely benign	139528613	RCV000260651\|RCV000371779\|RCV000443633\|RCV000757105\|RCV001088162\|RCV002374600;	N	MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MONDO:MONDO:0040501,MedGen:CN293783,OMIM:617821\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200,O	7	94028386	94028386	NC_000007.13:g.94028386G>A	ClinGen:CA4346492	C0268335 130000 Ehlers-Danlos syndrome, classic type;
NM_000089.4(COL1A2):c.132+3G>A	1278	COL1A2	Uncertain significance	1262984429	RCV002027313;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94028399	94028399	94028399	-
NM_000089.4(COL1A2):c.132+7A>G	1278	COL1A2	Likely benign	751380636	RCV002118230;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94028403	94028403	94028403	-
NM_000089.4(COL1A2):c.132+14G>T	1278	COL1A2	Likely benign	-1	RCV002611844;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94028410	94028410	NC_000007.13:g.94028410G>T	-
NM_000089.4(COL1A2):c.132+20T>C	1278	COL1A2	Likely benign	767408109	RCV002108480;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94028416	94028416	94028416	-
NM_000089.4(COL1A2):c.133-15C>G	1278	COL1A2	Uncertain significance	992330364	RCV001930673;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94029493	94029493	94029493	-
NM_000089.4(COL1A2):c.133-5A>G	1278	COL1A2	Conflicting interpretations of pathogenicity	-1	RCV002387572\|RCV003094987;	N	MedGen:CN230736\|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94029503	94029503	94029503	-
NM_000089.4(COL1A2):c.133-3C>A	1278	COL1A2	Uncertain significance	1562897561	RCV002233248;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94029505	94029505	NC_000007.13:g.94029505C>A	-	C0268335 130000 Ehlers-Danlos syndrome, classic type;
NM_000089.4(COL1A2):c.138A>C (p.Pro46=)	1278	COL1A2	Likely benign	148639088	RCV001580507\|RCV002231007\|RCV002395294;	N	MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000\|MedGen:CN230736	7	94029513	94029513	7:g.94029513A>C	ClinGen:CA4346531	C0268335 130000 Ehlers-Danlos syndrome, classic type;
NM_000089.4(COL1A2):c.145C>A (p.Pro49Thr)	1278	COL1A2	Uncertain significance	-1	RCV003037007\|RCV003059900;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN517202	7	94029520	94029520	NC_000007.13:g.94029520C>A	-
NM_000089.4(COL1A2):c.146C>A (p.Pro49His)	1278	COL1A2	Uncertain significance	-1	RCV002700770;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94029521	94029521	NC_000007.13:g.94029521C>A	-
NM_000089.4(COL1A2):c.149C>T (p.Pro50Leu)	1278	COL1A2	Uncertain significance	377637698	RCV001925070;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94029524	94029524	94029524	-
NM_000089.4(COL1A2):c.150A>C (p.Pro50=)	1278	COL1A2	Likely benign	369695645	RCV002235879;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94029525	94029525	7:g.94029525A>C	-
NM_000089.4(COL1A2):c.159T>C (p.Asp53=)	1278	COL1A2	Likely benign	201699348	RCV002176949;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94029534	94029534	94029534	-
NM_000089.4(COL1A2):c.159T>A (p.Asp53Glu)	1278	COL1A2	Uncertain significance	-1	RCV003065004;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94029534	94029534	NC_000007.13:g.94029534T>A	-
NM_000089.4(COL1A2):c.180C>T (p.Gly60=)	1278	COL1A2	Likely benign	756659600	RCV002236167\|RCV002414037;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN230736	7	94029555	94029555	94029555	-
NM_000089.4(COL1A2):c.180C>A (p.Gly60=)	1278	COL1A2	Likely benign	-1	RCV002647415\|RCV003162022;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN230736	7	94029555	94029555		-
NM_000089.4(COL1A2):c.210C>G (p.Pro70=)	1278	COL1A2	Likely benign	1791665131	RCV002209372;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94029585	94029585	94029585	-
NM_000089.4(COL1A2):c.219C>T (p.Leu73=)	1278	COL1A2	Likely benign	768467735	RCV002187876;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94029594	94029594	94029594	-
NM_000089.4(COL1A2):c.220G>A (p.Gly74Ser)	1278	COL1A2	Uncertain significance	776365460	RCV001794592\|RCV001885215;	N	MedGen:C3661900\|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94029595	94029595	94029595	-
NM_000089.4(COL1A2):c.222T>C (p.Gly74=)	1278	COL1A2	Likely benign	-1	RCV002918483;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94029597	94029597		-
NM_000089.4(COL1A2):c.225+14C>T	1278	COL1A2	Likely benign	751435484	RCV002125233;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94029614	94029614	94029614	-
NM_000089.4(COL1A2):c.225+15G>A	1278	COL1A2	Likely benign	-1	RCV002998708;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94029615	94029615	NC_000007.13:g.94029615G>A	-
NM_000089.4(COL1A2):c.226-16T>C	1278	COL1A2	Likely benign	542458716	RCV000602039\|RCV002529649;	N	MedGen:CN169374\|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94030863	94030863	7:g.94030863T>C	ClinGen:CA4346583	CN169374 not specified;
NM_000089.4(COL1A2):c.226-7T>C	1278	COL1A2	Likely benign	2115865163	RCV002186104;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94030872	94030872	94030872	-
NM_000089.4(COL1A2):c.226-6C>A	1278	COL1A2	Benign/Likely benign	199616511	RCV000897427\|RCV001564970;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN517202	7	94030873	94030873	7:g.94030873C>A	-
NM_000089.4(COL1A2):c.226-2A>G	1278	COL1A2	Pathogenic/Likely pathogenic	72656355	RCV000018811\|RCV000433468\|RCV002228040\|RCV002276561;	N	MONDO:MONDO:0040501,MedGen:CN293783,OMIM:617821\|MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000\|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000, Orphanet:98249	7	94030877	94030877	7:g.94030877A>G	ClinGen:CA212997,OMIM:120160.0042	CN706304 617821 EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2;
NM_000089.4(COL1A2):c.246T>C (p.Asp82=)	1278	COL1A2	Benign	1800222	RCV000251681\|RCV000318261\|RCV000375392\|RCV001511007\|RCV002450764;	N	MedGen:CN169374\|MONDO:MONDO:0040501,MedGen:CN293783,OMIM:617821\|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,	7	94030899	94030899	NC_000007.13:g.94030899T>C	ClinGen:CA4346587	C0268345 130060 Ehlers-Danlos syndrome, procollagen proteinase deficient;
NM_000089.4(COL1A2):c.254G>T (p.Gly85Val)	1278	COL1A2	Uncertain significance	-1	RCV002433295\|RCV003101958;	N	MedGen:CN230736\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94030907	94030907	94030907	-
NM_000089.4(COL1A2):c.255A>G (p.Gly85=)	1278	COL1A2	Likely benign	772309296	RCV002237152\|RCV002439046;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN230736	7	94030908	94030908	94030908	-
NM_000089.4(COL1A2):c.256G>C (p.Val86Leu)	1278	COL1A2	Uncertain significance	777971816	RCV001508218\|RCV002564233;	N	MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94030909	94030909	94030909	-
NM_000089.4(COL1A2):c.271G>T (p.Gly91Ter)	1278	COL1A2	Pathogenic	764355552	RCV001982827;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94030924	94030924	94030924	-
NM_000089.4(COL1A2):c.279G>A (p.Met93Ile)	1278	COL1A2	Pathogenic	72656356	RCV000018774\|RCV002231016;	N	MONDO:MONDO:0040501,MedGen:CN293783,OMIM:617821\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94030932	94030932	7:g.94030932G>A	ClinGen:CA162908568,LOVD 3:COL1A2_00227,OMIM:120160.0003	C0268335 130000 Ehlers-Danlos syndrome, classic type;
NM_000089.4(COL1A2):c.279+2T>C	1278	COL1A2	Pathogenic	72656357	RCV000018773\|RCV002228037;	N	MONDO:MONDO:0040501,MedGen:CN293783,OMIM:617821\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94030934	94030934	7:g.94030934T>C	ClinGen:CA212996,OMIM:120160.0002	CN706304 617821 EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2;
NM_000089.4(COL1A2):c.279+12T>C	1278	COL1A2	Conflicting interpretations of pathogenicity	751199493	RCV000283180\|RCV000340617\|RCV002058681;	N	MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MONDO:MONDO:0040501,MedGen:CN293783,OMIM:617821\|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94030944	94030944	NC_000007.13:g.94030944T>C	ClinGen:CA4346598	C0268345 130060 Ehlers-Danlos syndrome, procollagen proteinase deficient;
NM_000089.4(COL1A2):c.280-17A>C	1278	COL1A2	Likely benign	-1	RCV003074208;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94033851	94033851	NC_000007.13:g.94033851A>C	-
NM_000089.4(COL1A2):c.280-8C>T	1278	COL1A2	Likely benign	371996944	RCV000517398\|RCV002231633;	N	MedGen:CN169374\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94033860	94033860	7:g.94033860C>T	ClinGen:CA4346613	CN169374 not specified;
NM_000089.4(COL1A2):c.280-7_280-3del	1278	COL1A2	Uncertain significance	2115874855	RCV001876423;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94033860	94033864	94033859	-
NM_000089.4(COL1A2):c.280-7T>C	1278	COL1A2	Conflicting interpretations of pathogenicity	750868020	RCV001257269\|RCV002069366;	N	7 conditions\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94033861	94033861	7:g.94033861T>C	-
NM_000089.4(COL1A2):c.280-2A>G	1278	COL1A2	Likely pathogenic	2115874899	RCV001998278;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94033866	94033866	94033866	-
NM_000089.4(COL1A2):c.280-2del	1278	COL1A2	Likely pathogenic	-1	RCV003034515;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94033866	94033866	NC_000007.13:g.94033866del	-
NM_000089.4(COL1A2):c.280G>A (p.Gly94Ser)	1278	COL1A2	Likely pathogenic	-1	RCV002842322;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94033868	94033868	NC_000007.13:g.94033868G>A	-
NM_000089.4(COL1A2):c.285A>G (p.Leu95=)	1278	COL1A2	Likely benign	918955690	RCV002092292;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94033873	94033873	94033873	-
NM_000089.4(COL1A2):c.286A>G (p.Met96Val)	1278	COL1A2	Uncertain significance	763509640	RCV000659367\|RCV001508219\|RCV002230957\|RCV002438185\|RCV002475951;	N	MONDO:MONDO:0003900,MedGen:C0009782\|MedGen:C3661900\|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN230736\|7 conditions	7	94033874	94033874	7:g.94033874A>G	ClinGen:CA4346615	C0009782 Connective tissue disorder;
NM_000089.4(COL1A2):c.287T>A (p.Met96Lys)	1278	COL1A2	Uncertain significance	1026230498	RCV001507697\|RCV002241624;	N	MedGen:C3661900\|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94033875	94033875	7:g.94033875T>A	-
NM_000089.4(COL1A2):c.292C>T (p.Pro98Ser)	1278	COL1A2	Uncertain significance	765868569	RCV002232956;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94033880	94033880	7:g.94033880C>T	-	C0268335 130000 Ehlers-Danlos syndrome, classic type;
NM_000089.4(COL1A2):c.298G>A (p.Gly100Ser)	1278	COL1A2	Pathogenic/Likely pathogenic	1410254723	RCV000845036\|RCV001563656\|RCV002233933\|RCV003238791\|RCV003323646;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000\|MedGen:C3661900\|MONDO:MONDO:0020066,MedGen:C001372	7	94033886	94033886	NC_000007.13:g.94033886G>A	ClinGen:CA368219459	C0268335 130000 Ehlers-Danlos syndrome, classic type;
NM_000089.4(COL1A2):c.299G>T (p.Gly100Val)	1278	COL1A2	Likely pathogenic	1584315950	RCV002235124;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94033887	94033887	7:g.94033887G>T	-
NM_000089.4(COL1A2):c.304C>T (p.Pro102Ser)	1278	COL1A2	Conflicting interpretations of pathogenicity	189557655	RCV000440701\|RCV000659368\|RCV000710783\|RCV001080558\|RCV001159492\|RCV001159491\|RCV002278662\|RCV002446665;	N	MedGen:CN169374\|MONDO:MONDO:0003900,MedGen:C0009782\|MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000\|MONDO:MONDO:0040501,MedGen:CN293783,OMIM:617821\|MONDO:MONDO:	7	94033892	94033892	7:g.94033892C>T	ClinGen:CA4346618	C0009782 Connective tissue disorder;
NM_000089.4(COL1A2):c.305C>G (p.Pro102Arg)	1278	COL1A2	Uncertain significance	780850548	RCV002027069;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94033893	94033893	94033893	-
NM_000089.4(COL1A2):c.317G>A (p.Gly106Glu)	1278	COL1A2	Likely pathogenic	2115875189	RCV002242784;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94033905	94033905	94033905	-
NM_000089.4(COL1A2):c.323C>G (p.Pro108Arg)	1278	COL1A2	Uncertain significance	1791756508	RCV002047638;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94033911	94033911	94033911	-
NM_000089.4(COL1A2):c.324+15C>T	1278	COL1A2	Uncertain significance	371250316	RCV002038510\|RCV002284510;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000\|MedGen:C3661900	7	94033927	94033927	94033927	-
NM_000089.4(COL1A2):c.325-20A>G	1278	COL1A2	Likely benign	2115875469	RCV002120367;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94033985	94033985	94033985	-
NM_000089.4(COL1A2):c.325-9T>C	1278	COL1A2	Likely benign	-1	RCV003052901;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94033996	94033996	NC_000007.13:g.94033996T>C	-
NM_000089.4(COL1A2):c.326G>A (p.Gly109Asp)	1278	COL1A2	Likely pathogenic	1114167416	RCV000490674\|RCV001270303\|RCV002446951;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MONDO:MONDO:0030855,MedGen:C5436847,OMIM:619120\|MedGen:CN230736	7	94034006	94034006	7:g.94034006G>A	ClinGen:CA368219522,LOVD 3:COL1A2_00463,OMIM:120160.0057	C0023931 166200 Osteogenesis imperfecta type I;
NM_000089.4(COL1A2):c.329C>T (p.Pro110Leu)	1278	COL1A2	Uncertain significance	770180852	RCV001760694\|RCV002032871;	N	MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94034009	94034009	94034009	-
NM_000089.4(COL1A2):c.334G>A (p.Gly112Ser)	1278	COL1A2	Likely pathogenic	1554395411	RCV002231242;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94034014	94034014	7:g.94034014G>A	ClinGen:CA368219538	C0268335 130000 Ehlers-Danlos syndrome, classic type;
NM_000089.4(COL1A2):c.335G>A (p.Gly112Asp)	1278	COL1A2	Pathogenic	1791759246	RCV002239315;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94034015	94034015	7:g.94034015G>A	-
NM_000089.4(COL1A2):c.341A>G (p.Gln114Arg)	1278	COL1A2	Uncertain significance	2115875606	RCV001901998\|RCV003333772;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000\|MONDO:MONDO:0009159,MedGen:C4303789,OMIM:225320, Orphanet:230851	7	94034021	94034021	94034021	-
NM_000089.4(COL1A2):c.343G>A (p.Gly115Arg)	1278	COL1A2	Pathogenic	1791759301	RCV002240935;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94034023	94034023	7:g.94034023G>A	-
NM_000089.4(COL1A2):c.350C>T (p.Ala117Val)	1278	COL1A2	Uncertain significance	-1	RCV002297691;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94034030	94034030	94034030	-
NM_000089.4(COL1A2):c.353G>T (p.Gly118Val)	1278	COL1A2	Pathogenic	72656358	RCV001563459\|RCV002239314;	N	MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94034033	94034033	7:g.94034033G>T	-
NM_000089.4(COL1A2):c.353G>A (p.Gly118Asp)	1278	COL1A2	Pathogenic	-1	RCV003037237;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94034033	94034033	NC_000007.13:g.94034033G>A	-
NM_000089.4(COL1A2):c.362G>A (p.Gly121Asp)	1278	COL1A2	Pathogenic	2115875700	RCV001953547;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94034042	94034042	94034042	-
NM_000089.4(COL1A2):c.367C>A (p.Pro123Thr)	1278	COL1A2	Uncertain significance	774383359	RCV002240360;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94034047	94034047	7:g.94034047C>A	-
NM_000089.4(COL1A2):c.368C>A (p.Pro123His)	1278	COL1A2	Uncertain significance	1791759808	RCV001535728\|RCV002239313;	N	MONDO:MONDO:0009159,MedGen:C4303789,OMIM:225320, Orphanet:230851; MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666; MONDO:MONDO:0040501,MedGen:CN293783,OMIM:617821\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796,O	7	94034048	94034048	7:g.94034048C>A	-
NM_000089.4(COL1A2):c.378+6T>C	1278	COL1A2	Uncertain significance	752336890	RCV000442498\|RCV002230019;	N	MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94034064	94034064	7:g.94034064T>C	ClinGen:CA4346639	CN169374 not specified;
NM_000089.4(COL1A2):c.379-13C>T	1278	COL1A2	Likely benign	-1	RCV002746372;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94034138	94034138	NC_000007.13:g.94034138C>T	-
NM_000089.4(COL1A2):c.379-3T>C	1278	COL1A2	Uncertain significance	-1	RCV002617273;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94034148	94034148	NC_000007.13:g.94034148T>C	-
NM_000089.4(COL1A2):c.382C>T (p.Pro128Ser)	1278	COL1A2	Uncertain significance	774774401	RCV002241751;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94034154	94034154	94034154	-
NM_000089.4(COL1A2):c.389G>A (p.Gly130Asp)	1278	COL1A2	Pathogenic	72656360	RCV000991603\|RCV002231244;	N	MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94034161	94034161	7:g.94034161G>A	ClinGen:CA162914426	C0268335 130000 Ehlers-Danlos syndrome, classic type;
NM_000089.4(COL1A2):c.389G>T (p.Gly130Val)	1278	COL1A2	Pathogenic/Likely pathogenic	72656360	RCV000710787\|RCV001861953;	N	MedGen:CN517202\|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94034161	94034161	NC_000007.13:g.94034161G>T	-
NM_000089.4(COL1A2):c.395G>A (p.Arg132His)	1278	COL1A2	Uncertain significance	372678526	RCV000659369\|RCV001507698\|RCV002235525;	N	MONDO:MONDO:0003900,MedGen:C0009782\|MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94034167	94034167	7:g.94034167G>A	-	C0009782 Connective tissue disorder;
NM_000089.4(COL1A2):c.398G>T (p.Gly133Val)	1278	COL1A2	Likely pathogenic	1562899031	RCV002233541;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94034170	94034170	NC_000007.13:g.94034170G>T	-	C0268335 130000 Ehlers-Danlos syndrome, classic type;
NM_000089.4(COL1A2):c.407G>A (p.Gly136Asp)	1278	COL1A2	Pathogenic	1057524847	RCV000430596\|RCV002230081;	N	MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94034179	94034179	7:g.94034179G>A	ClinGen:CA16605302	CN517202 not provided;
NM_000089.4(COL1A2):c.424G>A (p.Gly142Ser)	1278	COL1A2	Likely pathogenic	-1	RCV002949060;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94034196	94034196	NC_000007.13:g.94034196G>A	-
NM_000089.4(COL1A2):c.426T>G (p.Gly142=)	1278	COL1A2	Likely benign	750357212	RCV002236173;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94034198	94034198	94034198	-
NM_000089.4(COL1A2):c.430G>A (p.Asp144Asn)	1278	COL1A2	Uncertain significance	981008420	RCV002231022;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94034202	94034202	7:g.94034202G>A	ClinGen:CA162914477	C0268335 130000 Ehlers-Danlos syndrome, classic type;
NM_000089.4(COL1A2):c.432+1G>A	1278	COL1A2	Pathogenic/Likely pathogenic	1554395431	RCV000521677\|RCV000624372\|RCV002231211;	N	MedGen:C3661900\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94034205	94034205	7:g.94034205G>A	ClinGen:CA368219747	C0268335 130000 Ehlers-Danlos syndrome, classic type;
NM_000089.4(COL1A2):c.432+4_432+7del	1278	COL1A2	Pathogenic/Likely pathogenic	72656363	RCV000598625\|RCV000985047\|RCV002232565;	N	MedGen:C3661900\|\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94034205	94034208	7:g.94034205_94034208del	ClinGen:CA162914491	CN517202 not provided;
NM_000089.4(COL1A2):c.432+1G>T	1278	COL1A2	Pathogenic	1554395431	RCV002241409;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94034205	94034205	7:g.94034205G>T	-
NM_000089.4(COL1A2):c.432+11A>T	1278	COL1A2	Likely benign	-1	RCV002932562;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94034215	94034215	NC_000007.13:g.94034215A>T	-
NM_000089.4(COL1A2):c.432+16T>A	1278	COL1A2	Likely benign	-1	RCV003003174;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94034220	94034220	NC_000007.13:g.94034220T>A	-
NM_000089.4(COL1A2):c.433-16A>G	1278	COL1A2	Likely benign	964597288	RCV000608231\|RCV002063001;	N	MedGen:CN169374\|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94034495	94034495	7:g.94034495A>G	ClinGen:CA576321581	CN169374 not specified;
NM_000089.4(COL1A2):c.433-14G>C	1278	COL1A2	Likely benign	1465833801	RCV002090383;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94034497	94034497	94034497	-
NM_000089.4(COL1A2):c.433-10T>C	1278	COL1A2	Likely benign	1791770493	RCV002099161;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94034501	94034501	94034501	-
NM_000089.4(COL1A2):c.433-6G>A	1278	COL1A2	Likely benign	-1	RCV002805341;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94034505	94034505	NC_000007.13:g.94034505G>A	-
NM_000089.4(COL1A2):c.433-3T>G	1278	COL1A2	Likely pathogenic	1554395470	RCV000659370;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94034508	94034508	NC_000007.13:g.94034508T>G	-	C0023931 166200 Osteogenesis imperfecta type I;
NM_000089.4(COL1A2):c.433-2A>G	1278	COL1A2	Likely pathogenic	1554395471	RCV000548758;	N	MONDO:MONDO:0007522,MedGen:C4225429, Orphanet:287; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94034509	94034509	7:g.94034509A>G	ClinGen:CA368219755	C0268335 130000 Ehlers-Danlos syndrome, classic type;
NM_000089.4(COL1A2):c.433-2A>C	1278	COL1A2	Pathogenic	1554395471	RCV002233416;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94034509	94034509	NC_000007.13:g.94034509A>C	-	C0268335 130000 Ehlers-Danlos syndrome, classic type;
NM_000089.4(COL1A2):c.433-1G>C	1278	COL1A2	Pathogenic	-1	RCV003060124;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94034510	94034510	NC_000007.13:g.94034510G>C	-
NM_000089.4(COL1A2):c.434G>A (p.Gly145Asp)	1278	COL1A2	Likely pathogenic	-1	RCV002872403;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94034512	94034512	NC_000007.13:g.94034512G>A	-
NM_000089.4(COL1A2):c.439C>T (p.Pro147Ser)	1278	COL1A2	Uncertain significance	1791770915	RCV002241154;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94034517	94034517	7:g.94034517C>T	-
NM_000089.4(COL1A2):c.451G>A (p.Gly151Arg)	1278	COL1A2	Likely pathogenic	-1	RCV003074955;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94034529	94034529	NC_000007.13:g.94034529G>A	-
NM_000089.4(COL1A2):c.454C>T (p.Arg152Ter)	1278	COL1A2	Pathogenic	1791771616	RCV001993149;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94034532	94034532	94034532	-
NM_000089.4(COL1A2):c.455G>A (p.Arg152Gln)	1278	COL1A2	Uncertain significance	765116624	RCV001981237\|RCV003170453;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000\|MedGen:CN230736	7	94034533	94034533	94034533	-
NM_000089.4(COL1A2):c.463G>A (p.Glu155Lys)	1278	COL1A2	Uncertain significance	1791771795	RCV002241782;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94034541	94034541	94034541	-
NM_000089.4(COL1A2):c.486+15A>G	1278	COL1A2	Conflicting interpretations of pathogenicity	193922171	RCV000029608\|RCV002054487;	N	MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94034579	94034579	7:g.94034579A>G	ClinGen:CA260379	C0029434 Osteogenesis imperfecta;
NM_000089.4(COL1A2):c.487-11T>C	1278	COL1A2	Likely benign	-1	RCV003083250;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94034974	94034974	NC_000007.13:g.94034974T>C	-
NM_000089.4(COL1A2):c.487-9_487-7del	1278	COL1A2	Likely benign	-1	RCV002867437;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94034974	94034976	NC_000007.13:g.94034976_94034978del	-
NM_000089.4(COL1A2):c.490G>A (p.Ala164Thr)	1278	COL1A2	Uncertain significance	-1	RCV003050547;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94034988	94034988	NC_000007.13:g.94034988G>A	-
NM_000089.4(COL1A2):c.505G>A (p.Gly169Arg)	1278	COL1A2	Likely pathogenic	2115879081	RCV002019618;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94035003	94035003	94035003	-
NM_000089.4(COL1A2):c.511C>T (p.Pro171Ser)	1278	COL1A2	Uncertain significance	2115879087	RCV002011011;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94035009	94035009	94035009	-
NM_000089.4(COL1A2):c.513T>C (p.Pro171=)	1278	COL1A2	Likely benign	1204358667	RCV002537542;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94035011	94035011	7:g.94035011T>C	-
NM_000089.4(COL1A2):c.515G>T (p.Gly172Val)	1278	COL1A2	Likely pathogenic	768263997	RCV001973919;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94035013	94035013	94035013	-
NM_000089.4(COL1A2):c.517C>T (p.Leu173Phe)	1278	COL1A2	Uncertain significance	-1	RCV002582001;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94035015	94035015	NC_000007.13:g.94035015C>T	-
NM_000089.4(COL1A2):c.520C>T (p.Pro174Ser)	1278	COL1A2	Uncertain significance	-1	RCV003111835;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94035018	94035018	NC_000007.13:g.94035018C>T	-
NM_000089.4(COL1A2):c.526T>C (p.Phe176Leu)	1278	COL1A2	Conflicting interpretations of pathogenicity	370234887	RCV000878240\|RCV001159495\|RCV001159496\|RCV002235943\|RCV002346040;	N	MedGen:C3661900\|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MONDO:MONDO:0040501,MedGen:CN293783,OMIM:617821\|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796,O	7	94035024	94035024	7:g.94035024T>C	-
NM_000089.4(COL1A2):c.529A>C (p.Lys177Gln)	1278	COL1A2	Uncertain significance	1222909339	RCV001934261;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94035027	94035027	94035027	-
NM_000089.4(COL1A2):c.531A>C (p.Lys177Asn)	1278	COL1A2	Uncertain significance	-1	RCV003087436;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94035029	94035029	NC_000007.13:g.94035029A>C	-
NM_000089.4(COL1A2):c.540+7A>C	1278	COL1A2	Likely benign	-1	RCV002999950;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94035045	94035045	NC_000007.13:g.94035045A>C	-
NM_000089.4(COL1A2):c.540+17C>A	1278	COL1A2	Likely benign	759527558	RCV002217776;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94035055	94035055	94035055	-
NM_000089.4(COL1A2):c.540+19C>G	1278	COL1A2	Likely benign	764155573	RCV002111353;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94035057	94035057	94035057	-
NM_000089.4(COL1A2):c.541-19A>G	1278	COL1A2	Likely benign	750692751	RCV002227360\|RCV003101296;	N	MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94035543	94035543	94035543	-
NM_000089.4(COL1A2):c.541G>A (p.Gly181Arg)	1278	COL1A2	Likely pathogenic	1791793058	RCV002240331;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94035562	94035562	7:g.94035562G>A	-
NM_000089.4(COL1A2):c.548A>G (p.Asn183Ser)	1278	COL1A2	Uncertain significance	1283526350	RCV002240482;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94035569	94035569	7:g.94035569A>G	-
NM_000089.4(COL1A2):c.569G>A (p.Gly190Glu)	1278	COL1A2	Pathogenic/Likely pathogenic	72656369	RCV000762460\|RCV002533908;	N	MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94035590	94035590	NC_000007.13:g.94035590G>A	-
NM_000089.4(COL1A2):c.576C>G (p.Pro192=)	1278	COL1A2	Likely benign	140656978	RCV002083930\|RCV002352829;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000\|MedGen:CN230736	7	94035597	94035597	94035597	-
NM_000089.4(COL1A2):c.576C>T (p.Pro192=)	1278	COL1A2	Likely benign	-1	RCV002922044;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94035597	94035597		-
NM_000089.4(COL1A2):c.577G>A (p.Gly193Ser)	1278	COL1A2	Pathogenic	72656370	RCV000255575\|RCV000490744\|RCV001526511\|RCV002229832;	N	MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MONDO:MONDO:0008159,MedGen:C0029458\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94035598	94035598	7:g.94035598G>A	ClinGen:CA4346716,UniProtKB:P08123#VAR_063343	CN517202 not provided;
NM_000089.4(COL1A2):c.577G>C (p.Gly193Arg)	1278	COL1A2	Pathogenic	-1	RCV003037238;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94035598	94035598	NC_000007.13:g.94035598G>C	-
NM_000089.4(COL1A2):c.581C>T (p.Ala194Val)	1278	COL1A2	Uncertain significance	-1	RCV002305060;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94035602	94035602	94035602	-
NM_000089.4(COL1A2):c.582T>G (p.Ala194=)	1278	COL1A2	Benign/Likely benign	144540908	RCV000828611\|RCV001078540\|RCV002352482;	N	MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000\|MedGen:CN230736	7	94035603	94035603	7:g.94035603T>G	-
NM_000089.4(COL1A2):c.586G>T (p.Gly196Cys)	1278	COL1A2	Pathogenic	1057517953	RCV000414693\|RCV001861415;	N	MedGen:CN517202\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94035607	94035607	7:g.94035607G>T	ClinGen:CA16042602	CN517202 not provided;
NM_000089.4(COL1A2):c.586G>A (p.Gly196Ser)	1278	COL1A2	Pathogenic	1057517953	RCV002235296;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94035607	94035607	7:g.94035607G>A	-
NM_000089.4(COL1A2):c.586G>C (p.Gly196Arg)	1278	COL1A2	Pathogenic	-1	RCV002801427;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94035607	94035607	NC_000007.13:g.94035607G>C	-
NM_000089.4(COL1A2):c.587G>T (p.Gly196Val)	1278	COL1A2	Pathogenic	-1	RCV003060125;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94035608	94035608	NC_000007.13:g.94035608G>T	-
NM_000089.4(COL1A2):c.593A>G (p.Lys198Arg)	1278	COL1A2	Uncertain significance	772672797	RCV002241614\|RCV002357015;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN230736	7	94035614	94035614	7:g.94035614A>G	-
NM_000089.4(COL1A2):c.594+1G>T	1278	COL1A2	Pathogenic/Likely pathogenic	2115881240	RCV001920858\|RCV003136301;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000\|MedGen:C3661900	7	94035616	94035616	94035616	-
NM_000089.4(COL1A2):c.594+11A>T	1278	COL1A2	Likely benign	-1	RCV003073236;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94035626	94035626	NC_000007.13:g.94035626A>T	-
NM_000089.4(COL1A2):c.595-20C>T	1278	COL1A2	Benign/Likely benign	192022673	RCV001721365\|RCV002059890;	N	MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94037139	94037139	7:g.94037139C>T	ClinGen:CA4346735	CN169374 not specified;
NC_000007.13:g.(?_94037139)_(94037712_?)dup	1278	COL1A2	Pathogenic	-1	RCV000708538\|RCV001861931;	N	MONDO:MONDO:0007522,MedGen:C4225429, Orphanet:287; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94037139	94037712		-	C0268335 130000 Ehlers-Danlos syndrome, classic type;
NC_000007.13:g.(?_94037139)_(94038155_?)dup	1278	COL1A2	Pathogenic	-1	RCV000793490\|RCV001869252;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0007522,MedGen:C4225429, Orphanet:287\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94037139	94038155		-
NM_000089.4(COL1A2):c.595-16A>G	1278	COL1A2	Likely benign	143041120	RCV000841910\|RCV002068603;	N	MedGen:C3661900\|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94037143	94037143	7:g.94037143A>G	-
NM_000089.4(COL1A2):c.595-14C>T	1278	COL1A2	Likely benign	-1	RCV002775756;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94037145	94037145	NC_000007.13:g.94037145C>T	-
NM_000089.4(COL1A2):c.595-2A>G	1278	COL1A2	Pathogenic/Likely pathogenic	72656375	RCV001526530\|RCV002233686\|RCV003442054;	N	MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000\|MedGen:C3661900	7	94037157	94037157	7:g.94037157A>G	-	C0268335 130000 Ehlers-Danlos syndrome, classic type;
NM_000089.4(COL1A2):c.604G>A (p.Gly202Ser)	1278	COL1A2	Likely pathogenic	72656376	RCV001330973;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94037168	94037168	94037168	-
NM_000089.4(COL1A2):c.605G>T (p.Gly202Val)	1278	COL1A2	Likely pathogenic	72656377	RCV001970920;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94037169	94037169	94037169	-
NM_000089.4(COL1A2):c.605G>A (p.Gly202Asp)	1278	COL1A2	Pathogenic	72656377	RCV001972528;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94037169	94037169	94037169	-
NM_000089.4(COL1A2):c.612T>G (p.Pro204=)	1278	COL1A2	Likely benign	2115886810	RCV002084673;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94037176	94037176	94037176	-
NM_000089.4(COL1A2):c.614G>C (p.Gly205Ala)	1278	COL1A2	Likely pathogenic	-1	RCV002574771;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94037178	94037178	NC_000007.13:g.94037178G>C	-
NM_000089.4(COL1A2):c.632G>A (p.Gly211Asp)	1278	COL1A2	Pathogenic	72656378	RCV001959021\|RCV003418259;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|	7	94037196	94037196	94037196	-
NM_000089.4(COL1A2):c.635A>C (p.Gln212Pro)	1278	COL1A2	Uncertain significance	-1	RCV002943087;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94037199	94037199	NC_000007.13:g.94037199A>C	-
NM_000089.4(COL1A2):c.639A>G (p.Thr213=)	1278	COL1A2	Uncertain significance	1015392105	RCV002241114;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94037203	94037203	7:g.94037203A>G	-
NM_000089.4(COL1A2):c.639+3A>G	1278	COL1A2	Uncertain significance	2115886901	RCV001943714;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94037206	94037206	94037206	-
NM_000089.4(COL1A2):c.639+19A>T	1278	COL1A2	Conflicting interpretations of pathogenicity	183516726	RCV000029610\|RCV000605746\|RCV002054488;	N	MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MedGen:CN169374\|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94037222	94037222	7:g.94037222A>T	ClinGen:CA260381	CN169374 not specified;
NM_000089.4(COL1A2):c.639+20T>C	1278	COL1A2	Likely benign	771890345	RCV002080259;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94037223	94037223	94037223	-
NM_000089.4(COL1A2):c.640-16A>G	1278	COL1A2	Likely benign	539923265	RCV002035191;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94037479	94037479	94037479	-
NM_000089.4(COL1A2):c.644C>T (p.Ala215Val)	1278	COL1A2	Uncertain significance	753438416	RCV001921142\|RCV003401883;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000\|	7	94037499	94037499	94037499	-
NM_000089.4(COL1A2):c.647G>A (p.Arg216His)	1278	COL1A2	Uncertain significance	756743425	RCV002235348;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94037502	94037502	7:g.94037502G>A	-
NM_000089.4(COL1A2):c.657T>G (p.Pro219=)	1278	COL1A2	Likely benign	771837515	RCV002243071;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94037512	94037512	94037512	-
NM_000089.4(COL1A2):c.660T>C (p.Gly220=)	1278	COL1A2	Likely benign	746887380	RCV002235677;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94037515	94037515	7:g.94037515T>C	-
NM_000089.4(COL1A2):c.670C>A (p.Arg224Ser)	1278	COL1A2	Uncertain significance	763047559	RCV002013495;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94037525	94037525	94037525	-
NM_000089.4(COL1A2):c.671G>A (p.Arg224His)	1278	COL1A2	Conflicting interpretations of pathogenicity	771139732	RCV000764735\|RCV001160862\|RCV001160861\|RCV002234411\|RCV002377355;	N	6 conditions\|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MONDO:MONDO:0040501,MedGen:CN293783,OMIM:617821\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMI	7	94037526	94037526	NC_000007.13:g.94037526G>A	ClinGen:CA4346766	C0268335 130000 Ehlers-Danlos syndrome, classic type;
NM_000089.4(COL1A2):c.674T>C (p.Val225Ala)	1278	COL1A2	Uncertain significance	1210318478	RCV002022049\|RCV002370649\|RCV002221696;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000\|MedGen:CN230736\|MedGen:C3661900	7	94037529	94037529	94037529	-
NC_000007.13:g.(?_94037531)_(94038117_?)del	1278	COL1A2	Pathogenic	-1	RCV003119286;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94037531	94038117		-
NM_000089.4(COL1A2):c.679G>A (p.Ala227Thr)	1278	COL1A2	Likely benign	375401215	RCV000839296\|RCV002234380\|RCV003169067;	N	MedGen:C3661900\|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN230736	7	94037534	94037534	7:g.94037534G>A	-
NM_000089.4(COL1A2):c.681C>G (p.Ala227=)	1278	COL1A2	Likely benign	1791843396	RCV002205611;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94037536	94037536	94037536	-
NM_000089.4(COL1A2):c.693+2dup	1278	COL1A2	Uncertain significance	2115888133	RCV001929500;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94037549	94037550	94037549	-
NM_000089.4(COL1A2):c.693+1G>C	1278	COL1A2	Pathogenic	72656381	RCV001895736;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94037549	94037549	94037549	-
NM_000089.4(COL1A2):c.693+2T>C	1278	COL1A2	Pathogenic	66516450	RCV001953550;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94037550	94037550	94037550	-
NM_000089.4(COL1A2):c.693+6T>G	1278	COL1A2	Uncertain significance	2115888140	RCV001970399\|RCV002276961\|RCV002276960;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000\|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000, Orphanet:98249\|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200,	7	94037554	94037554	94037554	-
NM_000089.4(COL1A2):c.693+7G>T	1278	COL1A2	Likely benign	759896464	RCV002235970;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94037555	94037555	7:g.94037555G>T	-
NM_000089.4(COL1A2):c.694-19C>T	1278	COL1A2	Likely benign	758082806	RCV002089031;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94037629	94037629	94037629	-
NM_000089.4(COL1A2):c.694-15T>C	1278	COL1A2	Benign	779799840	RCV002199037;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94037633	94037633	94037633	-
NM_000089.4(COL1A2):c.694-10T>G	1278	COL1A2	Likely benign	-1	RCV002725935;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94037638	94037638	NC_000007.13:g.94037638T>G	-
NM_000089.4(COL1A2):c.700C>T (p.Arg234Cys)	1278	COL1A2	Uncertain significance	1206388800	RCV001986009\|RCV002276973\|RCV002300639\|RCV003303560;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000\|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000, Orphanet:98249\|MedGen:CN169374\|MedGen:CN230736	7	94037654	94037654	94037654	-
NM_000089.4(COL1A2):c.701G>A (p.Arg234His)	1278	COL1A2	Uncertain significance	376341785	RCV002231023\|RCV002367777;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000\|MedGen:CN230736	7	94037655	94037655	NC_000007.13:g.94037655G>A	ClinGen:CA4346784	C0268335 130000 Ehlers-Danlos syndrome, classic type;
NM_000089.4(COL1A2):c.712G>A (p.Gly238Arg)	1278	COL1A2	Likely pathogenic	-1	RCV002889570;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94037666	94037666	NC_000007.13:g.94037666G>A	-
NM_000089.4(COL1A2):c.718G>A (p.Val240Met)	1278	COL1A2	Uncertain significance	-1	RCV003235770\|RCV003100424;	N	MedGen:CN517202\|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94037672	94037672	NC_000007.13:g.94037672G>A	-
NM_000089.4(COL1A2):c.720G>A (p.Val240=)	1278	COL1A2	Likely benign	1419697305	RCV000830615\|RCV002234379;	N	MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94037674	94037674	7:g.94037674G>A	-
NM_000089.4(COL1A2):c.726C>T (p.Pro242=)	1278	COL1A2	Likely benign	761063195	RCV002211953\|RCV002382302;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000\|MedGen:CN230736	7	94037680	94037680	94037680	-
NM_000089.4(COL1A2):c.727G>A (p.Val243Met)	1278	COL1A2	Uncertain significance	764373659	RCV002242005;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94037681	94037681	94037681	-
NM_000089.4(COL1A2):c.731G>A (p.Gly244Asp)	1278	COL1A2	Likely pathogenic	1584318303	RCV002234750;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94037685	94037685	7:g.94037685G>A	-
NM_000089.4(COL1A2):c.731G>T (p.Gly244Val)	1278	COL1A2	Likely pathogenic	1584318303	RCV002242774;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94037685	94037685	94037685	-
NM_000089.4(COL1A2):c.738+17_738+19del	1278	COL1A2	Likely benign	-1	RCV002825447;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94037708	94037710	NC_000007.13:g.94037709_94037711del	-
NM_000089.4(COL1A2):c.739-19C>T	1278	COL1A2	Likely benign	-1	RCV002630667;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94038063	94038063	NC_000007.13:g.94038063C>T	-
NM_000089.4(COL1A2):c.739-4T>G	1278	COL1A2	Likely benign	373527410	RCV000602697\|RCV002232575;	N	MedGen:CN169374\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94038078	94038078	7:g.94038078T>G	ClinGen:CA4346810	CN169374 not specified;
NM_000089.4(COL1A2):c.741T>C (p.Gly247=)	1278	COL1A2	Likely benign	1584318604	RCV002235875;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94038084	94038084	7:g.94038084T>C	-
NM_000089.4(COL1A2):c.749G>T (p.Gly250Val)	1278	COL1A2	Likely pathogenic	1562900513	RCV002232840;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94038092	94038092	NC_000007.13:g.94038092G>T	-	C0268335 130000 Ehlers-Danlos syndrome, classic type;
NM_000089.4(COL1A2):c.767G>T (p.Gly256Val)	1278	COL1A2	Pathogenic	67525025	RCV000507846\|RCV001542469\|RCV002231188;	N	MedGen:C3661900\|MONDO:MONDO:0008147,MedGen:C0268358,OMIM:166210, Orphanet:216804\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94038110	94038110	NC_000007.13:g.94038110G>T	ClinGen:CA162918982	C0268335 130000 Ehlers-Danlos syndrome, classic type;
NM_000089.4(COL1A2):c.767G>A (p.Gly256Asp)	1278	COL1A2	Pathogenic	67525025	RCV002241151;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94038110	94038110	7:g.94038110G>A	-
NM_000089.4(COL1A2):c.776G>C (p.Gly259Ala)	1278	COL1A2	Conflicting interpretations of pathogenicity	1584318648	RCV001160863\|RCV001160864\|RCV002558527;	N	MONDO:MONDO:0040501,MedGen:CN293783,OMIM:617821\|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94038119	94038119	7:g.94038119G>C	-
NM_000089.4(COL1A2):c.776G>A (p.Gly259Asp)	1278	COL1A2	Likely pathogenic	1584318648	RCV001330974;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94038119	94038119	94038119	-
NM_000089.4(COL1A2):c.781C>G (p.Pro261Ala)	1278	COL1A2	Uncertain significance	141075408	RCV002232952;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94038124	94038124	7:g.94038124C>G	-	C0268335 130000 Ehlers-Danlos syndrome, classic type;
NM_000089.4(COL1A2):c.781C>A (p.Pro261Thr)	1278	COL1A2	Uncertain significance	141075408	RCV002233538\|RCV002473111;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:C3661900	7	94038124	94038124	NC_000007.13:g.94038124C>A	-	C0268335 130000 Ehlers-Danlos syndrome, classic type;
NM_000089.4(COL1A2):c.783T>C (p.Pro261=)	1278	COL1A2	Benign/Likely benign	200436925	RCV000299512\|RCV000397498\|RCV000602033\|RCV002411256\|RCV002523605;	N	MONDO:MONDO:0040501,MedGen:CN293783,OMIM:617821\|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MedGen:CN169374\|MedGen:CN230736\|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200,O	7	94038126	94038126	NC_000007.13:g.94038126T>C	ClinGen:CA4346816	C0268345 130060 Ehlers-Danlos syndrome, procollagen proteinase deficient;
NM_000089.4(COL1A2):c.784G>C (p.Gly262Arg)	1278	COL1A2	Likely pathogenic	1554395970	RCV002231024\|RCV002244998;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000\|MONDO:MONDO:0008148,MedGen:C0268363,OMIM:166220, Orphanet:216820, Orphanet:666	7	94038127	94038127	NC_000007.13:g.94038127G>C	ClinGen:CA368220513	C0268335 130000 Ehlers-Danlos syndrome, classic type;
NM_000089.4(COL1A2):c.785G>A (p.Gly262Asp)	1278	COL1A2	Likely pathogenic	1791858238	RCV001171992\|RCV001873587;	N	MedGen:C3661900\|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94038128	94038128	7:g.94038128G>A	-
NM_000089.4(COL1A2):c.792G>C (p.Lys264Asn)	1278	COL1A2	Likely pathogenic	2115890442	RCV002024171;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94038135	94038135	94038135	-
NM_000089.4(COL1A2):c.792+6A>C	1278	COL1A2	Uncertain significance	-1	RCV003046103;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94038141	94038141	NC_000007.13:g.94038141A>C	-
NM_000089.4(COL1A2):c.793-20G>C	1278	COL1A2	Likely benign	770146997	RCV002165296;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94038614	94038614	94038614	-
NM_000089.4(COL1A2):c.793G>C (p.Gly265Arg)	1278	COL1A2	Pathogenic	1114167417	RCV000490663\|RCV002527011;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94038634	94038634	NC_000007.13:g.94038634G>C	ClinGen:CA368220540	C0023931 166200 Osteogenesis imperfecta type I;
NM_000089.4(COL1A2):c.794G>A (p.Gly265Asp)	1278	COL1A2	Pathogenic	72656386	RCV000490709\|RCV001851298;	N	MONDO:MONDO:0008148,MedGen:C0268363,OMIM:166220, Orphanet:216820, Orphanet:666\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94038635	94038635	NC_000007.13:g.94038635G>A	ClinGen:CA162919498	C0268363 166220 Osteogenesis imperfecta with normal sclerae, dominant form;
NM_000089.4(COL1A2):c.794G>T (p.Gly265Val)	1278	COL1A2	Pathogenic/Likely pathogenic	72656386	RCV001953647\|RCV003401970;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|	7	94038635	94038635	94038635	-
NM_000089.4(COL1A2):c.795T>A (p.Gly265=)	1278	COL1A2	Likely benign	-1	RCV003054994;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94038636	94038636		-
NM_000089.4(COL1A2):c.816C>T (p.Asn272=)	1278	COL1A2	Likely benign	1465476385	RCV002095007\|RCV003289433;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000\|MedGen:CN230736	7	94038657	94038657	94038657	-
NM_000089.4(COL1A2):c.817G>T (p.Ala273Ser)	1278	COL1A2	Uncertain significance	-1	RCV003019997;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94038658	94038658	NC_000007.13:g.94038658G>T	-
NM_000089.4(COL1A2):c.821G>A (p.Gly274Asp)	1278	COL1A2	Pathogenic	67675951	RCV002242820;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94038662	94038662	94038662	-
NM_000089.4(COL1A2):c.824C>T (p.Pro275Leu)	1278	COL1A2	Uncertain significance	-1	RCV002629705;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94038665	94038665	NC_000007.13:g.94038665C>T	-
NM_000089.4(COL1A2):c.830G>T (p.Gly277Val)	1278	COL1A2	Pathogenic	752431578	RCV002241536;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94038671	94038671	7:g.94038671G>T	-
NM_000089.4(COL1A2):c.830G>C (p.Gly277Ala)	1278	COL1A2	Pathogenic/Likely pathogenic	752431578	RCV002046789\|RCV002466705;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:C3661900	7	94038671	94038671	94038671	-
NM_000089.4(COL1A2):c.833C>T (p.Pro278Leu)	1278	COL1A2	Uncertain significance	2115892207	RCV001877752;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94038674	94038674	94038674	-
NM_000089.4(COL1A2):c.834C>T (p.Pro278=)	1278	COL1A2	Likely benign	760482884	RCV002235867\|RCV002434345;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000\|MedGen:CN230736	7	94038675	94038675	7:g.94038675C>T	-
NM_000089.4(COL1A2):c.835G>C (p.Ala279Pro)	1278	COL1A2	Uncertain significance	374616916	RCV002241343;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94038676	94038676	7:g.94038676G>C	-
NM_000089.4(COL1A2):c.835G>A (p.Ala279Thr)	1278	COL1A2	Uncertain significance	374616916	RCV002049192;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94038676	94038676	94038676	-
NM_000089.4(COL1A2):c.836C>G (p.Ala279Gly)	1278	COL1A2	Uncertain significance	-1	RCV002298151;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94038677	94038677	94038677	-
NM_000089.4(COL1A2):c.837C>T (p.Ala279=)	1278	COL1A2	Likely benign	-1	RCV002434804\|RCV003099925;	N	MedGen:CN230736\|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94038678	94038678		-
NM_000089.4(COL1A2):c.842_859dup (p.Gly286_Leu287insProArgGlyGluValGly)	1278	COL1A2	Likely pathogenic	-1	RCV002472338;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94038678	94038679	NC_000007.13:g.94038683_94038700dup	-
NM_000089.4(COL1A2):c.838G>A (p.Gly280Ser)	1278	COL1A2	Pathogenic	72656387	RCV000029613\|RCV000517418\|RCV002228065\|RCV002255121\|RCV002288521;	N	MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MedGen:C3661900\|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|Human Phenotype Ontology:HP:0002659,	7	94038679	94038679	7:g.94038679G>A	ClinGen:CA260386	C0268335 130000 Ehlers-Danlos syndrome, classic type;
NM_000089.4(COL1A2):c.838G>T (p.Gly280Cys)	1278	COL1A2	Pathogenic/Likely pathogenic	-1	RCV002287739\|RCV003097730;	N	Human Phenotype Ontology:HP:0002652,Human Phenotype Ontology:HP:0005685,MONDO:MONDO:0018230,MedGen:C0410528, Orphanet:364526\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94038679	94038679	94038679	-
NM_000089.4(COL1A2):c.839G>C (p.Gly280Ala)	1278	COL1A2	Pathogenic	-1	RCV002570268;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94038680	94038680	NC_000007.13:g.94038680G>C	-
NM_000089.4(COL1A2):c.845G>A (p.Arg282His)	1278	COL1A2	Uncertain significance	542393716	RCV001907307;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94038686	94038686	94038686	-
NM_000089.4(COL1A2):c.854T>C (p.Val285Ala)	1278	COL1A2	Uncertain significance	-1	RCV002833276;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94038695	94038695	NC_000007.13:g.94038695T>C	-
NM_000089.4(COL1A2):c.855G>C (p.Val285=)	1278	COL1A2	Likely benign	185254570	RCV002236053;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94038696	94038696	7:g.94038696G>C	-
NM_000089.4(COL1A2):c.856G>A (p.Gly286Ser)	1278	COL1A2	Pathogenic	1114167418	RCV000490758;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94038697	94038697	7:g.94038697G>A	ClinGen:CA368220655	C0023931 166200 Osteogenesis imperfecta type I;
NM_000089.4(COL1A2):c.856G>T (p.Gly286Cys)	1278	COL1A2	Pathogenic	-1	RCV002889970;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94038697	94038697	NC_000007.13:g.94038697G>T	-
NM_000089.4(COL1A2):c.857G>C (p.Gly286Ala)	1278	COL1A2	Pathogenic/Likely pathogenic	67210352	RCV002242821\|RCV002225133;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666	7	94038698	94038698	94038698	-
NM_000089.4(COL1A2):c.873C>T (p.Ser291=)	1278	COL1A2	Likely benign	770128801	RCV002065648\|RCV002372523;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000\|MedGen:CN230736	7	94038714	94038714	7:g.94038714C>T	-
NM_000089.4(COL1A2):c.874G>A (p.Gly292Ser)	1278	COL1A2	Pathogenic	906553840	RCV000490666\|RCV002230967\|RCV002244956\|RCV002289658;	N	MONDO:MONDO:0008148,MedGen:C0268363,OMIM:166220, Orphanet:216820, Orphanet:666\|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:C3661900\|MONDO:MONDO:0008147,MedGen:C0268358	7	94038715	94038715	NC_000007.13:g.94038715G>A	ClinGen:CA162919734	C0268335 130000 Ehlers-Danlos syndrome, classic type;
NM_000089.4(COL1A2):c.874G>C (p.Gly292Arg)	1278	COL1A2	Pathogenic	906553840	RCV000523423\|RCV001858003;	N	MedGen:CN517202\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94038715	94038715	7:g.94038715G>C	ClinGen:CA368220686	CN517202 not provided;
NM_000089.4(COL1A2):c.875G>T (p.Gly292Val)	1278	COL1A2	Pathogenic	1131692167	RCV000495171;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94038716	94038716	7:g.94038716G>T	ClinGen:CA368220688	C0023931 166200 Osteogenesis imperfecta type I;
NM_000089.4(COL1A2):c.877C>T (p.Pro293Ser)	1278	COL1A2	Uncertain significance	1365024484	RCV002004725;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94038718	94038718	94038718	-
NM_000089.4(COL1A2):c.879C>G (p.Pro293=)	1278	COL1A2	Likely benign	780283556	RCV002235653;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94038720	94038720	7:g.94038720C>G	-
NM_000089.4(COL1A2):c.880G>A (p.Val294Ile)	1278	COL1A2	Uncertain significance	145693444	RCV000175121\|RCV002228783\|RCV002277350;	N	MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000\|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000, Orphanet:98249	7	94038721	94038721	7:g.94038721G>A	ClinGen:CA240806	C0268335 130000 Ehlers-Danlos syndrome, classic type;
NM_000089.4(COL1A2):c.880G>T (p.Val294Phe)	1278	COL1A2	Conflicting interpretations of pathogenicity	145693444	RCV000952651\|RCV002235777\|RCV002279662\|RCV003380794;	N	MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000\|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000, Orphanet:98249\|MedGen:CN230736	7	94038721	94038721	7:g.94038721G>T	-
NM_000089.4(COL1A2):c.888T>G (p.Pro296=)	1278	COL1A2	Likely benign	1554396039	RCV002234413;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94038729	94038729	7:g.94038729T>G	ClinGen:CA456488324	C0268335 130000 Ehlers-Danlos syndrome, classic type;
NM_000089.4(COL1A2):c.891+7A>T	1278	COL1A2	Likely benign	1017077909	RCV002235495;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94038739	94038739	7:g.94038739A>T	-
NM_000089.4(COL1A2):c.891+11A>G	1278	COL1A2	Likely benign	-1	RCV002589678;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94038743	94038743	NC_000007.13:g.94038743A>G	-
NM_000089.4(COL1A2):c.892-20T>G	1278	COL1A2	Likely benign	750377261	RCV000841900\|RCV002068602;	N	MedGen:CN517202\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94038856	94038856	7:g.94038856T>G	-
NM_000089.4(COL1A2):c.892-13C>G	1278	COL1A2	Benign	200532328	RCV000354414\|RCV000400064\|RCV002058682;	N	MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MONDO:MONDO:0040501,MedGen:CN293783,OMIM:617821\|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94038863	94038863	NC_000007.13:g.94038863C>G	ClinGen:CA4346863	C0268345 130060 Ehlers-Danlos syndrome, procollagen proteinase deficient;
NM_000089.4(COL1A2):c.892-5C>T	1278	COL1A2	Likely benign	778088746	RCV000613321\|RCV002063087;	N	MedGen:CN169374\|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94038871	94038871	7:g.94038871C>T	ClinGen:CA4346867	CN169374 not specified;
NM_000089.4(COL1A2):c.892-4A>G	1278	COL1A2	Likely benign	749567968	RCV000893890;	N	MONDO:MONDO:0007522,MedGen:C4225429, Orphanet:287; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94038872	94038872	7:g.94038872A>G	-
NM_000089.4(COL1A2):c.892G>A (p.Gly298Ser)	1278	COL1A2	Pathogenic/Likely pathogenic	72656389	RCV000991262\|RCV002536188;	N	MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94038876	94038876	7:g.94038876G>A	-
NM_000089.4(COL1A2):c.896A>C (p.Asn299Thr)	1278	COL1A2	Uncertain significance	2115893108	RCV001931102\|RCV002479423;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000\|MedGen:C3661900	7	94038880	94038880	94038880	-
NM_000089.4(COL1A2):c.896A>G (p.Asn299Ser)	1278	COL1A2	Uncertain significance	-1	RCV003033981;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94038880	94038880	NC_000007.13:g.94038880A>G	-
NM_000089.4(COL1A2):c.901G>A (p.Gly301Arg)	1278	COL1A2	Pathogenic	2115893133	RCV001951134;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94038885	94038885	94038885	-
NM_000089.4(COL1A2):c.909C>T (p.Asn303=)	1278	COL1A2	Likely benign	985639597	RCV001565566\|RCV002547175\|RCV002445095;	N	MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000\|MedGen:CN230736	7	94038893	94038893	7:g.94038893C>T	-
NM_000089.4(COL1A2):c.910G>A (p.Gly304Ser)	1278	COL1A2	Pathogenic/Likely pathogenic	1054264002	RCV001260280\|RCV001814270\|RCV002240729\|RCV002375009;	N	MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|Human Phenotype Ontology:HP:0000924,MedGen:C4021790\|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|	7	94038894	94038894	7:g.94038894G>A	-
NM_000089.4(COL1A2):c.920G>A (p.Gly307Asp)	1278	COL1A2	Pathogenic	72656390	RCV002231025;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94038904	94038904	7:g.94038904G>A	ClinGen:CA162920026	C0268335 130000 Ehlers-Danlos syndrome, classic type;
NM_000089.4(COL1A2):c.921T>C (p.Gly307=)	1278	COL1A2	Likely benign	2115893209	RCV002237153;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94038905	94038905	94038905	-
NM_000089.4(COL1A2):c.929G>T (p.Gly310Val)	1278	COL1A2	Pathogenic	-1	RCV002857971;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94038913	94038913	NC_000007.13:g.94038913G>T	-
NM_000089.4(COL1A2):c.936+10C>T	1278	COL1A2	Likely benign	-1	RCV003090951;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94038930	94038930	NC_000007.13:g.94038930C>T	-
NM_000089.4(COL1A2):c.936+15G>A	1278	COL1A2	Likely benign	-1	RCV002877252;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94038935	94038935	NC_000007.13:g.94038935G>A	-
NM_000089.4(COL1A2):c.937-19A>G	1278	COL1A2	Likely benign	779693879	RCV002101407;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94039016	94039016	94039016	-
NM_000089.4(COL1A2):c.937-3C>T	1278	COL1A2	Benign	42519	RCV000253006\|RCV000274743\|RCV000329587\|RCV001523406\|RCV001589224\|RCV001589222\|RCV001589223\|RCV001812671\|RCV002277600\|RCV002374411;	N	MedGen:CN169374\|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MONDO:MONDO:0040501,MedGen:CN293783,OMIM:617821\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,	7	94039032	94039032	7:g.94039032C>T	ClinGen:CA4346893	C0268345 130060 Ehlers-Danlos syndrome, procollagen proteinase deficient;
NM_000089.4(COL1A2):c.942T>C (p.Leu314=)	1278	COL1A2	Likely benign	780887310	RCV002240690\|RCV002449281;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN230736	7	94039040	94039040	94039040	-
NM_000089.4(COL1A2):c.945C>T (p.Pro315=)	1278	COL1A2	Conflicting interpretations of pathogenicity	147058179	RCV000029615\|RCV001575964\|RCV002054489\|RCV002276581\|RCV002371784;	N	MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MedGen:C3661900\|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MONDO:MONDO:0020066,MedGen:C0013720,	7	94039043	94039043	7:g.94039043C>T	ClinGen:CA260392	C0029434 Osteogenesis imperfecta;
NM_000089.4(COL1A2):c.946G>A (p.Gly316Ser)	1278	COL1A2	Pathogenic/Likely pathogenic	72656392	RCV001375860\|RCV001813787\|RCV002231026;	N	MONDO:MONDO:0008147,MedGen:C0268358,OMIM:166210, Orphanet:216804\|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,	7	94039044	94039044	7:g.94039044G>A	ClinGen:CA368220848	C0268335 130000 Ehlers-Danlos syndrome, classic type;
NM_000089.4(COL1A2):c.948C>T (p.Gly316=)	1278	COL1A2	Benign/Likely benign	34511999	RCV000029616\|RCV000245637\|RCV000271186\|RCV000757104\|RCV001811203\|RCV002276582\|RCV002444443;	N	MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MedGen:CN169374\|MONDO:MONDO:0040501,MedGen:CN293783,OMIM:617821\|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796,O	7	94039046	94039046	7:g.94039046C>T	ClinGen:CA260395	C0268335 130000 Ehlers-Danlos syndrome, classic type;
NM_000089.4(COL1A2):c.949G>A (p.Val317Ile)	1278	COL1A2	Uncertain significance	142803502	RCV001592878\|RCV002232897\|RCV002289969\|RCV002369858;	N	MedGen:C3661900\|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MONDO:MONDO:0030855,MedGen:C5436847,OMIM:619120\|MedGen:CN230736	7	94039047	94039047	NC_000007.13:g.94039047G>A	-	C0268335 130000 Ehlers-Danlos syndrome, classic type;
NM_000089.4(COL1A2):c.956G>A (p.Gly319Glu)	1278	COL1A2	Pathogenic	1554396083	RCV000518754\|RCV002231000;	N	MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94039054	94039054	7:g.94039054G>A	ClinGen:CA368220866	CN517202 not provided;
NM_000089.4(COL1A2):c.963C>T (p.Pro321=)	1278	COL1A2	Likely benign	147021092	RCV002178478;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94039061	94039061	94039061	-
NM_000089.4(COL1A2):c.964G>A (p.Gly322Ser)	1278	COL1A2	Pathogenic/Likely pathogenic	72656394	RCV000755946\|RCV001374625\|RCV001543665\|RCV002233745\|RCV002252228;	N	MedGen:C3661900\|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MONDO:MONDO:0008148,MedGen:C0268363,OMIM:166220, Orphanet:216820, Orphanet:666\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:M	7	94039062	94039062	NC_000007.13:g.94039062G>A	-
NM_000089.4(COL1A2):c.970C>T (p.Pro324Ser)	1278	COL1A2	Uncertain significance	2115894024	RCV001996153;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94039068	94039068	94039068	-
NM_000089.4(COL1A2):c.974G>T (p.Gly325Val)	1278	COL1A2	Pathogenic	-1	RCV002819082;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94039072	94039072	NC_000007.13:g.94039072G>T	-
NM_000089.4(COL1A2):c.975A>T (p.Gly325=)	1278	COL1A2	Benign/Likely benign	148063325	RCV000516594\|RCV000757103\|RCV001087190\|RCV002383991;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000\|MedGen:CN230736	7	94039073	94039073	7:g.94039073A>T	ClinGen:CA4346898	C0268335 130000 Ehlers-Danlos syndrome, classic type;
NM_000089.4(COL1A2):c.976C>A (p.Pro326Thr)	1278	COL1A2	Uncertain significance	1791879479	RCV002240307;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94039074	94039074	7:g.94039074C>A	-
NM_000089.4(COL1A2):c.979C>T (p.Arg327Cys)	1278	COL1A2	Uncertain significance	-1	RCV002971049;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94039077	94039077	NC_000007.13:g.94039077C>T	-
NM_000089.4(COL1A2):c.980G>A (p.Arg327His)	1278	COL1A2	Uncertain significance	764174111	RCV001567795\|RCV002242262;	N	MedGen:C3661900\|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94039078	94039078	94039078	-
NM_000089.4(COL1A2):c.981C>T (p.Arg327=)	1278	COL1A2	Benign/Likely benign	141762645	RCV000537810\|RCV001696986\|RCV002377006;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000\|MedGen:C3661900\|MedGen:CN230736	7	94039079	94039079	NC_000007.13:g.94039079C>T	ClinGen:CA4346901	C0268335 130000 Ehlers-Danlos syndrome, classic type;
NM_000089.4(COL1A2):c.982G>A (p.Gly328Ser)	1278	COL1A2	Pathogenic	66612022	RCV000763174\|RCV001196500\|RCV001783030\|RCV001836645\|RCV002231248\|RCV003448980;	N	6 conditions\|MONDO:MONDO:0008148,MedGen:C0268363,OMIM:166220, Orphanet:216820, Orphanet:666\|MedGen:C3661900\|MONDO:MONDO:0009159,MedGen:C4303789,OMIM:225320, Orphanet:230851\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:	7	94039080	94039080	7:g.94039080G>A	ClinGen:CA162920322	C0268335 130000 Ehlers-Danlos syndrome, classic type;
NM_000089.4(COL1A2):c.1006G>T (p.Ala336Ser)	1278	COL1A2	Uncertain significance	757569298	RCV002240958;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94039104	94039104	7:g.94039104G>T	-
NM_000089.4(COL1A2):c.1008C>T (p.Ala336=)	1278	COL1A2	Conflicting interpretations of pathogenicity	138357977	RCV000597506\|RCV002232231\|RCV002456301;	N	MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000\|MedGen:CN230736	7	94039106	94039106	7:g.94039106C>T	ClinGen:CA4346903	CN169374 not specified;
NM_000089.4(COL1A2):c.1009G>A (p.Gly337Ser)	1278	COL1A2	Pathogenic	67865220	RCV000490720\|RCV000993573\|RCV000987924\|RCV001250519\|RCV001553203\|RCV002230964\|RCV002279258;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MONDO:MONDO:0009804,MedGen:C0268362,OMIM:259420, Orphanet:216812, Orphanet:666\|MONDO:MONDO:0007522,MedGen:C4225429, Orphanet:287\|MONDO:MONDO:0009804,MedGen:C0268362,OMIM:259420,Or	7	94039107	94039107	7:g.94039107G>A	ClinGen:CA162920380	C0268335 130000 Ehlers-Danlos syndrome, classic type;
NM_000089.4(COL1A2):c.1009G>T (p.Gly337Cys)	1278	COL1A2	Pathogenic	-1	RCV003037240;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94039107	94039107	NC_000007.13:g.94039107G>T	-
NM_000089.4(COL1A2):c.1010G>C (p.Gly337Ala)	1278	COL1A2	Pathogenic	2115894285	RCV001933055;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94039108	94039108	94039108	-
NM_000089.4(COL1A2):c.1010G>T (p.Gly337Val)	1278	COL1A2	Likely pathogenic	-1	RCV002918351;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94039108	94039108	NC_000007.13:g.94039108G>T	-
NM_000089.4(COL1A2):c.1015A>G (p.Thr339Ala)	1278	COL1A2	Uncertain significance	374718116	RCV002240156;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94039113	94039113	7:g.94039113A>G	-
NM_000089.4(COL1A2):c.1017T>C (p.Thr339=)	1278	COL1A2	Likely benign	1584319446	RCV002235864;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94039115	94039115	7:g.94039115T>C	-
NM_000089.4(COL1A2):c.1029A>G (p.Gly343=)	1278	COL1A2	Likely benign	2115894389	RCV002241011;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94039127	94039127	94039127	-
NM_000089.4(COL1A2):c.1036-16C>T	1278	COL1A2	Likely benign	-1	RCV002967562;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94039538	94039538	NC_000007.13:g.94039538C>T	-
NM_000089.4(COL1A2):c.1036-14G>A	1278	COL1A2	Benign/Likely benign	114322680	RCV000326210\|RCV000380485\|RCV000441752\|RCV001811201\|RCV002054485\|RCV002490411;	N	MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MONDO:MONDO:0040501,MedGen:CN293783,OMIM:617821\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200,O	7	94039540	94039540	7:g.94039540G>A	ClinGen:CA260333	C0268345 130060 Ehlers-Danlos syndrome, procollagen proteinase deficient;
NM_000089.4(COL1A2):c.1036-12A>G	1278	COL1A2	Benign/Likely benign	41316929	RCV000282655\|RCV000376954\|RCV000436706\|RCV000710776\|RCV002058683;	N	MONDO:MONDO:0040501,MedGen:CN293783,OMIM:617821\|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,	7	94039542	94039542	NC_000007.13:g.94039542A>G	ClinGen:CA4346919	C0268345 130060 Ehlers-Danlos syndrome, procollagen proteinase deficient;
NM_000089.4(COL1A2):c.1036-10T>C	1278	COL1A2	Likely benign	1363231522	RCV002243079;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94039544	94039544	94039544	-
NM_000089.4(COL1A2):c.1036-9G>A	1278	COL1A2	Likely benign	202024467	RCV001697430\|RCV002529392;	N	MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94039545	94039545	7:g.94039545G>A	ClinGen:CA4346920	CN169374 not specified;
NM_000089.4(COL1A2):c.1041G>A (p.Glu347=)	1278	COL1A2	Likely benign	1584319702	RCV002235758;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94039559	94039559	7:g.94039559G>A	-
NM_000089.4(COL1A2):c.1045G>T (p.Gly349Cys)	1278	COL1A2	Pathogenic	66773001	RCV002234412;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94039563	94039563	7:g.94039563G>T	ClinGen:CA162920757	C0268335 130000 Ehlers-Danlos syndrome, classic type;
NM_000089.4(COL1A2):c.1045G>A (p.Gly349Ser)	1278	COL1A2	Pathogenic	66773001	RCV002242822;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94039563	94039563	94039563	-
NM_000089.4(COL1A2):c.1045G>C (p.Gly349Arg)	1278	COL1A2	Pathogenic	66773001	RCV001898068;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94039563	94039563	94039563	-
NM_000089.4(COL1A2):c.1048C>T (p.Pro350Ser)	1278	COL1A2	Uncertain significance	201463779	RCV001755798\|RCV002231227;	N	MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94039566	94039566	NC_000007.13:g.94039566C>T	ClinGen:CA4346924	C0268335 130000 Ehlers-Danlos syndrome, classic type;
NM_000089.4(COL1A2):c.1050A>C (p.Pro350=)	1278	COL1A2	Likely benign	1055249689	RCV002102259;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94039568	94039568	94039568	-
NM_000089.4(COL1A2):c.1051G>A (p.Ala351Thr)	1278	COL1A2	Uncertain significance	755610740	RCV000337632\|RCV000405013\|RCV002229985;	N	MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MONDO:MONDO:0040501,MedGen:CN293783,OMIM:617821\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94039569	94039569	NC_000007.13:g.94039569G>A	ClinGen:CA4346925	C0268345 130060 Ehlers-Danlos syndrome, procollagen proteinase deficient;
NM_000089.4(COL1A2):c.1058C>T (p.Ser353Phe)	1278	COL1A2	Uncertain significance	-1	RCV002761540;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94039576	94039576	NC_000007.13:g.94039576C>T	-
NM_000089.4(COL1A2):c.1068G>C (p.Glu356Asp)	1278	COL1A2	Uncertain significance	1057518430	RCV000413326\|RCV003114531;	N	MedGen:CN169374\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94039586	94039586	7:g.94039586G>C	ClinGen:CA16042605	CN169374 not specified;
NM_000089.4(COL1A2):c.1071C>T (p.Ser357=)	1278	COL1A2	Likely benign	752193830	RCV002416104\|RCV002235605;	N	MedGen:CN230736\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94039589	94039589	7:g.94039589C>T	-
NM_000089.4(COL1A2):c.1072G>A (p.Gly358Ser)	1278	COL1A2	Pathogenic	66619856	RCV001091391\|RCV001542470\|RCV001809476\|RCV002231005\|RCV002490955;	N	MedGen:C3661900\|MONDO:MONDO:0008147,MedGen:C0268358,OMIM:166210, Orphanet:216804\|MONDO:MONDO:0009804,MedGen:C0268362,OMIM:259420, Orphanet:216812, Orphanet:666\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567	7	94039590	94039590	NC_000007.13:g.94039590G>A	ClinGen:CA162920823	C0268335 130000 Ehlers-Danlos syndrome, classic type;
NM_000089.4(COL1A2):c.1076A>G (p.Asn359Ser)	1278	COL1A2	Uncertain significance	755584404	RCV000176027\|RCV001852166\|RCV002415756;	N	MedGen:CN517202\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000\|MedGen:CN230736	7	94039594	94039594	7:g.94039594A>G	ClinGen:CA241883	CN169374 not specified;
NM_000089.4(COL1A2):c.1080G>A (p.Lys360=)	1278	COL1A2	Uncertain significance	-1	RCV002671158;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94039598	94039598		-
NM_000089.4(COL1A2):c.1086G>A (p.Glu362=)	1278	COL1A2	Likely benign	200284501	RCV001171993\|RCV002235840\|RCV003169469;	N	MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000\|MedGen:CN230736	7	94039604	94039604	7:g.94039604G>A	-
NM_000089.4(COL1A2):c.1089C>T (p.Pro363=)	1278	COL1A2	Conflicting interpretations of pathogenicity	748961276	RCV001160977\|RCV001160978\|RCV001859042\|RCV002445402;	N	MONDO:MONDO:0040501,MedGen:CN293783,OMIM:617821\|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000\|MedG	7	94039607	94039607	7:g.94039607C>T	-
NM_000089.4(COL1A2):c.1089C>G (p.Pro363=)	1278	COL1A2	Conflicting interpretations of pathogenicity	748961276	RCV001796406\|RCV002447186\|RCV002563894;	N	MedGen:C3661900\|MedGen:CN230736\|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94039607	94039607	7:g.94039607C>G	-
NM_000089.4(COL1A2):c.1089+1G>A	1278	COL1A2	Likely pathogenic	-1	RCV003004959;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94039608	94039608	NC_000007.13:g.94039608G>A	-
NM_000089.4(COL1A2):c.1089+8del	1278	COL1A2	Likely benign	1791895030	RCV002240429;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94039615	94039615	94039614	-
NM_000089.4(COL1A2):c.1089+14T>C	1278	COL1A2	Likely benign	1259284980	RCV002186185;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94039621	94039621	94039621	-
NM_000089.4(COL1A2):c.1090-10C>A	1278	COL1A2	Likely benign	1454873351	RCV002109240;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94039722	94039722	94039722	-
NM_000089.4(COL1A2):c.1090-6A>G	1278	COL1A2	Likely benign	2115896474	RCV002242976;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94039726	94039726	94039726	-
NM_000089.4(COL1A2):c.1099G>A (p.Gly367Arg)	1278	COL1A2	Pathogenic	-1	RCV002852812;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94039741	94039741	NC_000007.13:g.94039741G>A	-
NM_000089.4(COL1A2):c.1101G>A (p.Gly367=)	1278	COL1A2	Likely benign	1800237	RCV002550563;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94039743	94039743	7:g.94039743G>A	-
NM_000089.4(COL1A2):c.1107A>G (p.Gln369=)	1278	COL1A2	Likely benign	776853005	RCV002240408;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94039749	94039749	7:g.94039749A>G	-
NM_000089.4(COL1A2):c.1109G>T (p.Gly370Val)	1278	COL1A2	Pathogenic	72658104	RCV000522795\|RCV002525213;	N	MedGen:CN517202\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94039751	94039751	7:g.94039751G>T	ClinGen:CA368221175	CN517202 not provided;
NM_000089.4(COL1A2):c.1113T>C (p.Pro371=)	1278	COL1A2	Conflicting interpretations of pathogenicity	547506739	RCV001581134\|RCV002237182\|RCV002276738\|RCV002439063;	N	MedGen:C3661900\|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000, Orphanet:98249\|MedGen:CN230736	7	94039755	94039755	94039755	-
NM_000089.4(COL1A2):c.1124G>T (p.Ser375Ile)	1278	COL1A2	Uncertain significance	-1	RCV003027232;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94039766	94039766	NC_000007.13:g.94039766G>T	-
NM_000089.4(COL1A2):c.1127G>T (p.Gly376Val)	1278	COL1A2	Pathogenic	67543427	RCV002233375\|RCV002477619;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000\|7 conditions	7	94039769	94039769	7:g.94039769G>T	-	C0268335 130000 Ehlers-Danlos syndrome, classic type;
NM_000089.4(COL1A2):c.1134A>G (p.Glu378=)	1278	COL1A2	Likely benign	-1	RCV002795074;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94039776	94039776		-
NM_000089.4(COL1A2):c.1136G>C (p.Gly379Ala)	1278	COL1A2	Likely pathogenic	121912912	RCV000018819\|RCV002228041;	N	MONDO:MONDO:0008148,MedGen:C0268363,OMIM:166220, Orphanet:216820, Orphanet:666\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94039778	94039778	7:g.94039778G>C	OMIM:120160.0050,ClinGen:CA257797	C0268363 166220 Osteogenesis imperfecta with normal sclerae, dominant form;
NM_000089.4(COL1A2):c.1144G>A (p.Gly382Ser)	1278	COL1A2	Pathogenic	2115896730	RCV001958562;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94039786	94039786	94039786	-
NM_000089.4(COL1A2):c.1146C>T (p.Gly382=)	1278	COL1A2	Likely benign	1397328517	RCV002115255\|RCV003161505;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000\|MedGen:CN230736	7	94039788	94039788	94039788	-
NM_000089.4(COL1A2):c.1148C>A (p.Pro383His)	1278	COL1A2	Conflicting interpretations of pathogenicity	193922159	RCV001770043\|RCV001824577\|RCV002228061\|RCV002453270;	N	MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN230736	7	94039790	94039790	7:g.94039790C>A	ClinGen:CA260334	C0029434 Osteogenesis imperfecta;
NM_000089.4(COL1A2):c.1153G>C (p.Gly385Arg)	1278	COL1A2	Pathogenic	-1	RCV002842191;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94039795	94039795	NC_000007.13:g.94039795G>C	-
NM_000089.4(COL1A2):c.1159G>C (p.Ala387Pro)	1278	COL1A2	Uncertain significance	972825197	RCV001663539\|RCV002032651;	N	MedGen:C3661900\|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94039801	94039801	94039801	-
NM_000089.4(COL1A2):c.1168G>C (p.Ala390Pro)	1278	COL1A2	Uncertain significance	763560185	RCV002242399;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94039810	94039810	94039810	-
NM_000089.4(COL1A2):c.1170C>T (p.Ala390=)	1278	COL1A2	Likely benign	753455668	RCV002173234\|RCV002486814;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000\|7 conditions	7	94039812	94039812	94039812	-
NM_000089.4(COL1A2):c.1171G>T (p.Gly391Cys)	1278	COL1A2	Pathogenic	67707918	RCV002241147;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94039813	94039813	7:g.94039813G>T	-
NM_000089.4(COL1A2):c.1191G>A (p.Gly397=)	1278	COL1A2	Likely benign	-1	RCV002922482;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94039833	94039833		-
NM_000089.4(COL1A2):c.1195A>G (p.Arg399Gly)	1278	COL1A2	Uncertain significance	1213766484	RCV001930999;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94039837	94039837	94039837	-
NM_000089.4(COL1A2):c.1197+5G>A	1278	COL1A2	Pathogenic	68132885	RCV000490711\|RCV000598859\|RCV002227169;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:C3661900\|MONDO:MONDO:0008148,MedGen:C0268363,OMIM:166220, Orphanet:216820, Orphanet:666	7	94039844	94039844	7:g.94039844G>A	LOVD 3:COL1A2_000256,OMIM:120160.0036,ClinGen:CA162921230	CN517202 not provided;
NM_000089.4(COL1A2):c.1197+5G>C	1278	COL1A2	Pathogenic	-1	RCV003060126;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94039844	94039844	NC_000007.13:g.94039844G>C	-
NM_000089.4(COL1A2):c.1197+14G>A	1278	COL1A2	Likely benign	756968679	RCV002216501;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94039853	94039853	94039853	-
NC_000007.13:g.(?_94040181)_(94059705_?)dup	1278	COL1A2	Uncertain significance	-1	RCV001963764;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94040181	94059705	-1	-
NM_000089.4(COL1A2):c.1198-16A>T	1278	COL1A2	Likely benign	984345878	RCV000599913\|RCV002529461;	N	MedGen:CN169374\|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94040185	94040185	7:g.94040185A>T	ClinGen:CA162921589	CN169374 not specified;
NM_000089.4(COL1A2):c.1198-12A>G	1278	COL1A2	Conflicting interpretations of pathogenicity	1292046736	RCV000659374\|RCV002536339;	N	MONDO:MONDO:0003900,MedGen:C0009782\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94040189	94040189	NC_000007.13:g.94040189A>G	-	C0009782 Connective tissue disorder;
NM_000089.4(COL1A2):c.1198-8T>C	1278	COL1A2	Likely benign	769888724	RCV002199919;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94040193	94040193	94040193	-
NM_000089.4(COL1A2):c.1208G>T (p.Gly403Val)	1278	COL1A2	Likely pathogenic	1554396271	RCV002233226;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94040211	94040211	NC_000007.13:g.94040211G>T	-	C0268335 130000 Ehlers-Danlos syndrome, classic type;
NM_000089.4(COL1A2):c.1213C>T (p.Arg405Cys)	1278	COL1A2	Uncertain significance	-1	RCV003002661;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94040216	94040216	NC_000007.13:g.94040216C>T	-
NM_000089.4(COL1A2):c.1214G>A (p.Arg405His)	1278	COL1A2	Uncertain significance	368702549	RCV001957511\|RCV002254973\|RCV002352595;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:C3661900\|MedGen:CN230736	7	94040217	94040217	94040217	-
NM_000089.4(COL1A2):c.1216G>A (p.Gly406Ser)	1278	COL1A2	Pathogenic	72658108	RCV000735746\|RCV002535437;	N	MONDO:MONDO:0008147,MedGen:C0268358,OMIM:166210, Orphanet:216804\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94040219	94040219	NC_000007.13:g.94040219G>A	-
NM_000089.4(COL1A2):c.1228G>T (p.Ala410Ser)	1278	COL1A2	Uncertain significance	1235071648	RCV002235082;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94040231	94040231	7:g.94040231G>T	-
NM_000089.4(COL1A2):c.1245C>T (p.Gly415=)	1278	COL1A2	Likely benign	752359132	RCV002237160;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94040248	94040248	94040248	-
NM_000089.4(COL1A2):c.1246G>A (p.Val416Ile)	1278	COL1A2	Conflicting interpretations of pathogenicity	550867796	RCV000757107\|RCV002231006\|RCV003338649;	N	MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000\|MONDO:MONDO:0009804,MedGen:C0268362,OMIM:259420, Orphanet:216812, Orphanet:666	7	94040249	94040249	NC_000007.13:g.94040249G>A	ClinGen:CA4346961	C0268335 130000 Ehlers-Danlos syndrome, classic type;
NM_000089.4(COL1A2):c.1251+5G>C	1278	COL1A2	Uncertain significance	-1	RCV002885563;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94040259	94040259	NC_000007.13:g.94040259G>C	-
NM_000089.4(COL1A2):c.1251+9T>C	1278	COL1A2	Likely benign	-1	RCV002899637;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94040263	94040263	NC_000007.13:g.94040263T>C	-
NM_000089.4(COL1A2):c.1251+11T>C	1278	COL1A2	Likely benign	-1	RCV002917216;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94040265	94040265	NC_000007.13:g.94040265T>C	-
NM_000089.4(COL1A2):c.1252-20T>G	1278	COL1A2	Likely benign	2115898936	RCV002215341;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94040348	94040348	94040348	-
NM_000089.4(COL1A2):c.1252-17T>G	1278	COL1A2	Likely benign	774667135	RCV002214821;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94040351	94040351	94040351	-
NM_000089.4(COL1A2):c.1252-15T>C	1278	COL1A2	Likely benign	2115898987	RCV002180014;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94040353	94040353	94040353	-
NM_000089.4(COL1A2):c.1252-6del	1278	COL1A2	Conflicting interpretations of pathogenicity	886062516	RCV000313168\|RCV000395570\|RCV002058684;	N	MedGen:CN239427\|MONDO:MONDO:0007525,MedGen:C4551623,OMIM:130060, Orphanet:1899, Orphanet:99875, Orphanet:99876\|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94040362	94040362	7:g.94040362_94040362del	ClinGen:CA10626599	C0268345 130060 Ehlers-Danlos syndrome, procollagen proteinase deficient;
NM_000089.4(COL1A2):c.1264A>T (p.Ser422Cys)	1278	COL1A2	Uncertain significance	-1	RCV002579924\|RCV003128869;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000\|MedGen:CN517202	7	94040380	94040380	NC_000007.13:g.94040380A>T	-
NM_000089.4(COL1A2):c.1268G>A (p.Arg423His)	1278	COL1A2	Uncertain significance	764780528	RCV000490753\|RCV000998843\|RCV001851297\|RCV002376891;	N	MONDO:MONDO:0009804,MedGen:C0268362,OMIM:259420, Orphanet:216812, Orphanet:666\|MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000\|MedGen:CN230736	7	94040384	94040384	7:g.94040384G>A	ClinGen:CA4346994	C0268362 259420 Osteogenesis imperfecta type III;
NM_000089.4(COL1A2):c.1270G>A (p.Gly424Ser)	1278	COL1A2	Pathogenic	72658112	RCV002240378;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94040386	94040386	7:g.94040386G>A	-
NM_000089.4(COL1A2):c.1277G>T (p.Ser426Ile)	1278	COL1A2	Uncertain significance	376629202	RCV002239285;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94040393	94040393	7:g.94040393G>T	-
NM_000089.4(COL1A2):c.1277G>C (p.Ser426Thr)	1278	COL1A2	Uncertain significance	-1	RCV002790938;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94040393	94040393	NC_000007.13:g.94040393G>C	-
NM_000089.4(COL1A2):c.1289G>A (p.Gly430Glu)	1278	COL1A2	Pathogenic	1791913210	RCV001066906;	N	MONDO:MONDO:0007522,MedGen:C4225429, Orphanet:287; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94040405	94040405	7:g.94040405G>A	-
NM_000089.4(COL1A2):c.1295G>A (p.Arg432Gln)	1278	COL1A2	Conflicting interpretations of pathogenicity	139446305	RCV000029590\|RCV000412879\|RCV001249446\|RCV002228062;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0009159,MedGen:C4303789,OMIM:225320, Orphanet:230851; MONDO:MONDO:0040501,MedGen:CN293783,OMIM:617821; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MONDO:MONDO:0019567,MedGen:C0268	7	94040411	94040411	7:g.94040411G>A	ClinGen:CA260337	C0268335 130000 Ehlers-Danlos syndrome, classic type;
NM_000089.4(COL1A2):c.1315G>T (p.Gly439Cys)	1278	COL1A2	Pathogenic	1584320553	RCV000984473;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94040431	94040431	7:g.94040431G>T	-
NM_000089.4(COL1A2):c.1318C>T (p.Arg440Cys)	1278	COL1A2	Uncertain significance	754825427	RCV000522149\|RCV000659376\|RCV002231636;	N	MedGen:C3661900\|MONDO:MONDO:0003900,MedGen:C0009782\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94040434	94040434	7:g.94040434C>T	ClinGen:CA4346998	C0009782 Connective tissue disorder;
NM_000089.4(COL1A2):c.1319G>A (p.Arg440His)	1278	COL1A2	Uncertain significance	141677005	RCV001787440\|RCV001885211;	N	MedGen:C3661900\|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94040435	94040435	94040435	-
NM_000089.4(COL1A2):c.1324G>A (p.Gly442Arg)	1278	COL1A2	Pathogenic	1554396361	RCV002234404;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94040440	94040440	7:g.94040440G>A	ClinGen:CA368221610	C0268335 130000 Ehlers-Danlos syndrome, classic type;
NM_000089.4(COL1A2):c.1326G>T (p.Gly442=)	1278	COL1A2	Uncertain significance	779173151	RCV002240252;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94040442	94040442	7:g.94040442G>T	-
NM_000089.4(COL1A2):c.1329G>A (p.Glu443=)	1278	COL1A2	Likely benign	146206917	RCV001810557\|RCV002241662\|RCV002379978;	N	MedGen:C3661900\|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN230736	7	94040445	94040445	94040445	-
NM_000089.4(COL1A2):c.1331C>T (p.Pro444Leu)	1278	COL1A2	Uncertain significance	772238510	RCV001544615\|RCV002241314;	N	MedGen:C3661900\|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94040447	94040447	7:g.94040447C>T	-
NM_000089.4(COL1A2):c.1338C>T (p.Leu446=)	1278	COL1A2	Likely benign	1213032761	RCV002240716\|RCV002384804;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN230736	7	94040454	94040454	94040454	-
NM_000089.4(COL1A2):c.1340T>A (p.Met447Lys)	1278	COL1A2	Uncertain significance	1446399667	RCV002241548;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94040456	94040456	7:g.94040456T>A	-
NM_000089.4(COL1A2):c.1350+11A>T	1278	COL1A2	Conflicting interpretations of pathogenicity	193922160	RCV000029591\|RCV000616881\|RCV001160979\|RCV002054486\|RCV002512054;	N	MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MedGen:CN169374\|MONDO:MONDO:0040501,MedGen:CN293783,OMIM:617821\|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796,O	7	94040477	94040477	7:g.94040477A>T	ClinGen:CA260340	CN169374 not specified;
NM_000089.4(COL1A2):c.1350+14T>A	1278	COL1A2	Likely benign	377624499	RCV002173170;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94040480	94040480	94040480	-
NM_000089.4(COL1A2):c.1351-16C>T	1278	COL1A2	Likely benign	-1	RCV002650695;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94041364	94041364	NC_000007.13:g.94041364C>T	-
NM_000089.4(COL1A2):c.1351-16C>G	1278	COL1A2	Likely benign	-1	RCV002760202;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94041364	94041364	NC_000007.13:g.94041364C>G	-
NM_000089.4(COL1A2):c.1353T>A (p.Gly451=)	1278	COL1A2	Benign/Likely benign	545459178	RCV002277773\|RCV002382494\|RCV003107992;	N	MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MedGen:CN230736\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94041382	94041382		-
NM_000089.4(COL1A2):c.1359T>C (p.Pro453=)	1278	COL1A2	Likely benign	768981392	RCV000615045\|RCV002529750;	N	MedGen:CN169374\|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94041388	94041388	7:g.94041388T>C	ClinGen:CA4347023	CN169374 not specified;
NM_000089.4(COL1A2):c.1371A>G (p.Gly457=)	1278	COL1A2	Likely benign	2115902719	RCV002071673;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94041400	94041400	94041400	-
NM_000089.4(COL1A2):c.1376T>C (p.Ile459Thr)	1278	COL1A2	Uncertain significance	2115902728	RCV002279052\|RCV003096301;	N	MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94041405	94041405	94041405	-
NM_000089.4(COL1A2):c.1377C>T (p.Ile459=)	1278	COL1A2	Likely benign	770230919	RCV002235773;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94041406	94041406	7:g.94041406C>T	-
NM_000089.4(COL1A2):c.1378G>A (p.Gly460Ser)	1278	COL1A2	Pathogenic	72658118	RCV001597190\|RCV002234410\|RCV003313968;	N	MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000\|MONDO:MONDO:0008147,MedGen:C0268358,OMIM:166210, Orphanet:216804	7	94041407	94041407	7:g.94041407G>A	ClinGen:CA162924592	C0268335 130000 Ehlers-Danlos syndrome, classic type;
NM_000089.4(COL1A2):c.1383C>T (p.Pro461=)	1278	COL1A2	Benign/Likely benign	139726213	RCV000029592\|RCV000541643\|RCV000611702\|RCV001160980\|RCV002381266\|RCV002477016\|RCV003430642;	N	MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN169374\|MONDO:MONDO:0040501,MedGen:CN293783,	7	94041412	94041412	7:g.94041412C>T	ClinGen:CA260341	C0268335 130000 Ehlers-Danlos syndrome, classic type;
NM_000089.4(COL1A2):c.1384G>A (p.Ala462Thr)	1278	COL1A2	Uncertain significance	562290953	RCV001985870\|RCV002276971;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000\|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000, Orphanet:98249	7	94041413	94041413	94041413	-
NM_000089.4(COL1A2):c.1388G>C (p.Gly463Ala)	1278	COL1A2	Pathogenic	2115902837	RCV002242770;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94041417	94041417	94041417	-
NM_000089.4(COL1A2):c.1391AAG[1] (p.Glu465del)	1278	COL1A2	Likely pathogenic	1791941199	RCV002240166;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94041420	94041422	7:g.94041420_94041422del	-
NM_000089.4(COL1A2):c.1393G>C (p.Glu465Gln)	1278	COL1A2	Uncertain significance	1562902082	RCV002242199;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94041422	94041422	94041422	-
NM_000089.4(COL1A2):c.1399C>T (p.Pro467Ser)	1278	COL1A2	Uncertain significance	-1	RCV002796695;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94041428	94041428	NC_000007.13:g.94041428C>T	-
NM_000089.4(COL1A2):c.1402G>A (p.Val468Ile)	1278	COL1A2	Uncertain significance	770497661	RCV002241159\|RCV002261310;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:C3661900	7	94041431	94041431	7:g.94041431G>A	-
NM_000089.4(COL1A2):c.1404C>T (p.Val468=)	1278	COL1A2	Conflicting interpretations of pathogenicity	773852385	RCV001919629\|RCV002388849;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN230736	7	94041433	94041433	94041433	-
NM_000089.4(COL1A2):c.1404+4A>C	1278	COL1A2	Uncertain significance	369907691	RCV001786412\|RCV002233395\|RCV002388324\|RCV003333100;	N	MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000\|MedGen:CN230736\|MONDO:MONDO:0008148,MedGen:C0268363,OMIM:166220, Orphanet:216820, Orphanet:666	7	94041437	94041437	NC_000007.13:g.94041437A>C	-	C0268335 130000 Ehlers-Danlos syndrome, classic type;
NM_000089.4(COL1A2):c.1405-16A>G	1278	COL1A2	Benign/Likely benign	73428205	RCV000841388\|RCV002068583;	N	MedGen:C3661900\|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94041880	94041880	7:g.94041880A>G	-
NM_000089.4(COL1A2):c.1405-10_1405-9del	1278	COL1A2	Uncertain significance	778910090	RCV001938563;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94041884	94041885	94041883	-
NM_000089.4(COL1A2):c.1412C>T (p.Pro471Leu)	1278	COL1A2	Uncertain significance	760503549	RCV002241736;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94041903	94041903	94041903	-
NM_000089.4(COL1A2):c.1418T>C (p.Ile473Thr)	1278	COL1A2	Uncertain significance	-1	RCV002770160;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94041909	94041909	NC_000007.13:g.94041909T>C	-
NM_000089.4(COL1A2):c.1419C>T (p.Ile473=)	1278	COL1A2	Likely benign	543815305	RCV002236333\|RCV002396000;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN230736	7	94041910	94041910	94041910	-
NM_000089.4(COL1A2):c.1420G>A (p.Asp474Asn)	1278	COL1A2	Uncertain significance	-1	RCV002284763\|RCV002391397\|RCV003097677;	N	MedGen:CN517202\|MedGen:CN230736\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94041911	94041911	94041911	-
NM_000089.4(COL1A2):c.1422C>T (p.Asp474=)	1278	COL1A2	Likely benign	766360064	RCV001707779\|RCV002063916\|RCV002395580;	N	MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000\|MedGen:CN230736	7	94041913	94041913	7:g.94041913C>T	ClinGen:CA4347055	CN169374 not specified;
NM_000089.4(COL1A2):c.1423G>A (p.Gly475Ser)	1278	COL1A2	Conflicting interpretations of pathogenicity	755058199	RCV001915322\|RCV003230710\|RCV003328686;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000\|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000, Orphanet:98249\|MedGen:C3661900	7	94041914	94041914	94041914	-
NM_000089.4(COL1A2):c.1424G>T (p.Gly475Val)	1278	COL1A2	Likely pathogenic	1791951769	RCV001089658;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94041915	94041915	7:g.94041915G>T	-
NM_000089.4(COL1A2):c.1425C>T (p.Gly475=)	1278	COL1A2	Likely benign	-1	RCV002842919;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94041916	94041916		-
NM_000089.4(COL1A2):c.1430del (p.Pro477fs)	1278	COL1A2	Pathogenic	-1	RCV002880620;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94041920	94041920	NC_000007.13:g.94041921del	-
NM_000089.4(COL1A2):c.1434C>A (p.Gly478=)	1278	COL1A2	Likely benign	756412829	RCV002088249\|RCV002391216\|RCV003458125;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000\|MedGen:CN230736\|MedGen:C3661900	7	94041925	94041925	94041925	-
NM_000089.4(COL1A2):c.1438A>C (p.Ile480Leu)	1278	COL1A2	Uncertain significance	778238943	RCV002241855;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94041929	94041929	94041929	-
NM_000089.4(COL1A2):c.1438A>G (p.Ile480Val)	1278	COL1A2	Uncertain significance	-1	RCV003067105;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94041929	94041929	NC_000007.13:g.94041929A>G	-
NM_000089.4(COL1A2):c.1439T>C (p.Ile480Thr)	1278	COL1A2	Uncertain significance	568201784	RCV002242521;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94041930	94041930	94041930	-
NM_000089.4(COL1A2):c.1441G>C (p.Gly481Arg)	1278	COL1A2	Pathogenic	72658120	RCV001914173;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94041932	94041932	94041932	-
NM_000089.4(COL1A2):c.1443C>G (p.Gly481=)	1278	COL1A2	Likely benign	757839011	RCV002236339\|RCV002396004;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN230736	7	94041934	94041934	94041934	-
NM_000089.4(COL1A2):c.1446A>C (p.Pro482=)	1278	COL1A2	Benign	412777	RCV000252784\|RCV000367790\|RCV000395576\|RCV001513946\|RCV001589215\|RCV001589213\|RCV001589214\|RCV002392754;	N	MedGen:CN169374\|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MONDO:MONDO:0040501,MedGen:CN293783,OMIM:617821\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,	7	94041937	94041937	7:g.94041937A>C	ClinGen:CA4347065	C0268345 130060 Ehlers-Danlos syndrome, procollagen proteinase deficient;
NM_000089.4(COL1A2):c.1446A>T (p.Pro482=)	1278	COL1A2	Benign/Likely benign	412777	RCV001162570\|RCV001162571\|RCV002067980\|RCV002393374;	N	MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MONDO:MONDO:0040501,MedGen:CN293783,OMIM:617821\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000\|MedG	7	94041937	94041937	7:g.94041937A>T	-
NM_000089.4(COL1A2):c.1446_1447delinsCA (p.Ala483Thr)	1278	COL1A2	Uncertain significance	2115904550	RCV002013595;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94041937	94041938	94041937	-
NM_000089.4(COL1A2):c.1448C>A (p.Ala483Asp)	1278	COL1A2	Uncertain significance	414408	RCV001910883;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94041939	94041939	94041939	-
NM_000089.4(COL1A2):c.1459G>A (p.Gly487Arg)	1278	COL1A2	Pathogenic	1791952936	RCV002241275;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94041950	94041950	7:g.94041950G>A	-
NM_000089.4(COL1A2):c.1464G>T (p.Glu488Asp)	1278	COL1A2	Uncertain significance	148802548	RCV001732035\|RCV002240568\|RCV002393334;	N	MedGen:C3661900\|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN230736	7	94041955	94041955	7:g.94041955G>T	-
NM_000089.4(COL1A2):c.1474A>T (p.Ile492Phe)	1278	COL1A2	Uncertain significance	776551401	RCV002234275;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94041965	94041965	7:g.94041965A>T	-
NM_000089.4(COL1A2):c.1474A>G (p.Ile492Val)	1278	COL1A2	Likely benign	776551401	RCV002136279;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94041965	94041965	94041965	-
NM_000089.4(COL1A2):c.1477G>C (p.Gly493Arg)	1278	COL1A2	Likely pathogenic	1554396612	RCV002231009;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94041968	94041968	NC_000007.13:g.94041968G>C	ClinGen:CA368221924	C0268335 130000 Ehlers-Danlos syndrome, classic type;
NM_000089.4(COL1A2):c.1478G>A (p.Gly493Glu)	1278	COL1A2	Pathogenic	72658121	RCV002233928;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94041969	94041969	7:g.94041969G>A	ClinGen:CA162925217	C0268335 130000 Ehlers-Danlos syndrome, classic type;
NM_000089.4(COL1A2):c.1478G>T (p.Gly493Val)	1278	COL1A2	Pathogenic	-1	RCV003060127;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94041969	94041969	NC_000007.13:g.94041969G>T	-
NM_000089.4(COL1A2):c.1498C>G (p.Pro500Ala)	1278	COL1A2	Uncertain significance	2115904764	RCV002023945\|RCV003324846;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000\|MedGen:C3661900	7	94041989	94041989	94041989	-
NM_000089.4(COL1A2):c.1502C>A (p.Thr501Asn)	1278	COL1A2	Uncertain significance	-1	RCV002389954\|RCV003095255;	N	MedGen:CN230736\|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94041993	94041993	94041993	-
NM_000089.4(COL1A2):c.1503+1G>C	1278	COL1A2	Pathogenic/Likely pathogenic	1554396615	RCV001575496\|RCV002231228;	N	MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94041995	94041995	7:g.94041995G>C	ClinGen:CA368221978	C0268335 130000 Ehlers-Danlos syndrome, classic type;
NM_000089.4(COL1A2):c.1503+1G>A	1278	COL1A2	Likely pathogenic	1554396615	RCV002241155\|RCV002276665;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666	7	94041995	94041995	7:g.94041995G>A	-
NM_000089.4(COL1A2):c.1503+11C>T	1278	COL1A2	Likely benign	538640615	RCV000610641\|RCV001811103\|RCV002064216;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94042005	94042005	7:g.94042005C>T	ClinGen:CA4347075	CN169374 not specified;
NM_000089.4(COL1A2):c.1503+13A>G	1278	COL1A2	Likely benign	759564451	RCV002128050;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94042007	94042007	94042007	-
NM_000089.4(COL1A2):c.1503+20T>C	1278	COL1A2	Likely benign	-1	RCV002867856;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94042014	94042014	NC_000007.13:g.94042014T>C	-
NM_000089.4(COL1A2):c.1504-19T>G	1278	COL1A2	Likely benign	746631924	RCV002075465;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94042376	94042376	94042376	-
NM_000089.4(COL1A2):c.1504G>A (p.Gly502Ser)	1278	COL1A2	Likely pathogenic	121912910	RCV000018803\|RCV002513109;	N	MONDO:MONDO:0008147,MedGen:C0268358,OMIM:166210, Orphanet:216804\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94042395	94042395	7:g.94042395G>A	ClinGen:CA257783,OMIM:120160.0034	C0268360 166210 Osteogenesis imperfecta, recessive perinatal lethal;
NM_000089.4(COL1A2):c.1510C>A (p.Pro504Thr)	1278	COL1A2	Uncertain significance	-1	RCV003040758;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94042401	94042401	NC_000007.13:g.94042401C>A	-
NM_000089.4(COL1A2):c.1512T>C (p.Pro504=)	1278	COL1A2	Likely benign	-1	RCV002957442;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94042403	94042403		-
NM_000089.4(COL1A2):c.1513G>A (p.Gly505Ser)	1278	COL1A2	Pathogenic	1554396679	RCV002231010;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94042404	94042404	NC_000007.13:g.94042404G>A	ClinGen:CA368222009	C0268335 130000 Ehlers-Danlos syndrome, classic type;
NM_000089.4(COL1A2):c.1514G>C (p.Gly505Ala)	1278	COL1A2	Likely pathogenic	1554396680	RCV002231229;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94042405	94042405	NC_000007.13:g.94042405G>C	ClinGen:CA368222011	C0268335 130000 Ehlers-Danlos syndrome, classic type;
NM_000089.4(COL1A2):c.1516A>C (p.Lys506Gln)	1278	COL1A2	Uncertain significance	1037367793	RCV002240969;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94042407	94042407	7:g.94042407A>C	-
NM_000089.4(COL1A2):c.1521C>T (p.Asn507=)	1278	COL1A2	Likely benign	747938841	RCV000842300\|RCV002390728\|RCV002235140;	N	MedGen:C3661900\|MedGen:CN230736\|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94042412	94042412	7:g.94042412C>T	-
NM_000089.4(COL1A2):c.1522G>A (p.Gly508Ser)	1278	COL1A2	Conflicting interpretations of pathogenicity	769600024	RCV002235123\|RCV002275144;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000\|MedGen:C3661900	7	94042413	94042413	7:g.94042413G>A	-
NM_000089.4(COL1A2):c.1535_1543dup (p.His512_Gly514dup)	1278	COL1A2	Uncertain significance	1791961847	RCV002241142;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94042421	94042422	7:g.94042421_94042422insGGTCATGCT	-
NM_000089.4(COL1A2):c.1532G>A (p.Gly511Asp)	1278	COL1A2	Pathogenic	66999265	RCV001975235;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94042423	94042423	94042423	-
NM_000089.4(COL1A2):c.1536T>G (p.His512Gln)	1278	COL1A2	Uncertain significance	200231086	RCV002240985\|RCV002402610\|RCV003145379;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000\|MedGen:CN230736\|MedGen:C3661900	7	94042427	94042427	7:g.94042427T>G	-
NM_000089.4(COL1A2):c.1546G>T (p.Ala516Ser)	1278	COL1A2	Uncertain significance	1185283931	RCV001928526;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94042437	94042437	94042437	-
NM_000089.4(COL1A2):c.1549G>A (p.Gly517Ser)	1278	COL1A2	Pathogenic	-1	RCV003037241\|RCV003138462;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN517202	7	94042440	94042440	NC_000007.13:g.94042440G>A	-
NM_000089.4(COL1A2):c.1555C>T (p.Arg519Trp)	1278	COL1A2	Conflicting interpretations of pathogenicity	151256720	RCV001162572\|RCV001162573\|RCV001858557;	N	MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MONDO:MONDO:0040501,MedGen:CN293783,OMIM:617821\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94042446	94042446	7:g.94042446C>T	-
NM_000089.4(COL1A2):c.1556G>A (p.Arg519Gln)	1278	COL1A2	Uncertain significance	201768205	RCV002242484;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94042447	94042447	94042447	-
NM_000089.4(COL1A2):c.1557+8C>T	1278	COL1A2	Likely benign	1584321985	RCV002540951;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94042456	94042456	7:g.94042456C>T	-
NM_000089.4(COL1A2):c.1557+11A>G	1278	COL1A2	Likely benign	-1	RCV002866711;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94042459	94042459	NC_000007.13:g.94042459A>G	-
NM_000089.4(COL1A2):c.1557+12C>T	1278	COL1A2	Likely benign	-1	RCV002976521;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94042460	94042460	NC_000007.13:g.94042460C>T	-
NM_000089.4(COL1A2):c.1562C>T (p.Ala521Val)	1278	COL1A2	Uncertain significance	-1	RCV002701103;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94043006	94043006	NC_000007.13:g.94043006C>T	-
NM_000089.4(COL1A2):c.1563T>C (p.Ala521=)	1278	COL1A2	Likely benign	765688776	RCV000840667\|RCV002234381;	N	MedGen:C3661900\|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94043007	94043007	7:g.94043007T>C	-
NM_000089.4(COL1A2):c.1564C>T (p.Pro522Ser)	1278	COL1A2	Conflicting interpretations of pathogenicity	199732595	RCV000309575\|RCV000364117\|RCV001764329\|RCV002058685\|RCV002402075;	N	MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MONDO:MONDO:0040501,MedGen:CN293783,OMIM:617821\|MedGen:CN517202\|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796,O	7	94043008	94043008	7:g.94043008C>T	ClinGen:CA4347121	C0268345 130060 Ehlers-Danlos syndrome, procollagen proteinase deficient;
NM_000089.4(COL1A2):c.1566A>G (p.Pro522=)	1278	COL1A2	Conflicting interpretations of pathogenicity	749869789	RCV000952592\|RCV002235839\|RCV002279661;	N	MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000\|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000, Orphanet:98249	7	94043010	94043010	7:g.94043010A>G	-
NM_000089.4(COL1A2):c.1570C>T (p.Pro524Ser)	1278	COL1A2	Uncertain significance	1791979962	RCV002242144;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94043014	94043014	94043014	-
NM_000089.4(COL1A2):c.1573G>T (p.Asp525Tyr)	1278	COL1A2	Uncertain significance	147074348	RCV002241281;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94043017	94043017	7:g.94043017G>T	-
NM_000089.4(COL1A2):c.1576G>A (p.Gly526Arg)	1278	COL1A2	Pathogenic/Likely pathogenic	72658129	RCV000623717\|RCV001823152\|RCV002232602\|RCV002289909\|RCV003314628;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0008147,MedGen:C0268358,OMIM:166210, Orphanet:216804\|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MONDO:MONDO:0030855,MedGen:C5436847	7	94043020	94043020	7:g.94043020G>A	ClinGen:CA162926587	C0268335 130000 Ehlers-Danlos syndrome, classic type;
NM_000089.4(COL1A2):c.1583A>G (p.Asn528Ser)	1278	COL1A2	Conflicting interpretations of pathogenicity	41317144	RCV001811631\|RCV002240325;	N	MedGen:C3661900\|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94043027	94043027	7:g.94043027A>G	-
NM_000089.4(COL1A2):c.1601C>T (p.Pro534Leu)	1278	COL1A2	Uncertain significance	-1	RCV002938273;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94043045	94043045	NC_000007.13:g.94043045C>T	-
NM_000089.4(COL1A2):c.1607C>T (p.Pro536Leu)	1278	COL1A2	Uncertain significance	1456907715	RCV002241483;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94043051	94043051	7:g.94043051C>T	-
NM_000089.4(COL1A2):c.1611+3_1611+6del	1278	COL1A2	Likely benign	-1	RCV003079122;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94043056	94043059	NC_000007.13:g.94043058_94043061del	-
NM_000089.4(COL1A2):c.1611+9T>A	1278	COL1A2	Conflicting interpretations of pathogenicity	200333208	RCV000400906\|RCV001164621\|RCV001164622\|RCV002229750;	N	MedGen:C3661900\|MONDO:MONDO:0040501,MedGen:CN293783,OMIM:617821\|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,	7	94043064	94043064	7:g.94043064T>A	ClinGen:CA4347128	CN169374 not specified;
NM_000089.4(COL1A2):c.1611+10T>C	1278	COL1A2	Likely benign	2115908396	RCV002243125;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94043065	94043065	94043065	-
NM_000089.4(COL1A2):c.1612-9C>T	1278	COL1A2	Likely benign	-1	RCV003068398;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94043197	94043197	NC_000007.13:g.94043197C>T	-
NM_000089.4(COL1A2):c.1612-7C>T	1278	COL1A2	Likely benign	-1	RCV002795143;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94043199	94043199	NC_000007.13:g.94043199C>T	-
NM_000089.4(COL1A2):c.1612G>A (p.Gly538Ser)	1278	COL1A2	Likely pathogenic	-1	RCV002472343;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94043206	94043206	NC_000007.13:g.94043206G>A	-
NM_000089.4(COL1A2):c.1644_1645delinsTG (p.Pro549Ala)	1278	COL1A2	Likely benign	-1	RCV003075331;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94043238	94043239	NC_000007.13:g.94043238_94043239delinsTG	-
NM_000089.4(COL1A2):c.1645C>G (p.Pro549Ala)	1278	COL1A2	Benign	42524	RCV000244604\|RCV000269609\|RCV000323983\|RCV000987925\|RCV001512869\|RCV001589217\|RCV001589216\|RCV001589218\|RCV001812668\|RCV002277599\|RCV002392755;	N	MedGen:CN169374\|MONDO:MONDO:0040501,MedGen:CN293783,OMIM:617821\|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MONDO:MONDO:0007522,MedGen:C4225429, Orphanet:287\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796,	7	94043239	94043239	7:g.94043239C>G	ClinGen:CA4347144,UniProtKB:P08123#VAR_001867	C0268345 130060 Ehlers-Danlos syndrome, procollagen proteinase deficient;
NM_000089.4(COL1A2):c.1645C>T (p.Pro549Ser)	1278	COL1A2	Uncertain significance	42524	RCV002240628\|RCV003442196;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:C3661900	7	94043239	94043239	7:g.94043239C>T	-
NM_000089.4(COL1A2):c.1648G>A (p.Gly550Ser)	1278	COL1A2	Conflicting interpretations of pathogenicity	-1	RCV003060128\|RCV003152809;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000\|MONDO:MONDO:0008148,MedGen:C0268363,OMIM:166220, Orphanet:216820, Orphanet:666	7	94043242	94043242	NC_000007.13:g.94043242G>A	-
NM_000089.4(COL1A2):c.1654C>T (p.Pro552Ser)	1278	COL1A2	Uncertain significance	763695362	RCV000432666\|RCV002230082;	N	MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94043248	94043248	7:g.94043248C>T	ClinGen:CA4347147	CN169374 not specified;
NM_000089.4(COL1A2):c.1665+9A>G	1278	COL1A2	Likely benign	-1	RCV003009172;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94043268	94043268	NC_000007.13:g.94043268A>G	-
NM_000089.4(COL1A2):c.1665+10C>T	1278	COL1A2	Likely benign	-1	RCV002652962;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94043269	94043269	NC_000007.13:g.94043269C>T	-
NM_000089.4(COL1A2):c.1665+15A>G	1278	COL1A2	Benign	421587	RCV000249349\|RCV000265350\|RCV000359953\|RCV002057299;	N	MedGen:CN169374\|MONDO:MONDO:0040501,MedGen:CN293783,OMIM:617821\|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,	7	94043274	94043274	7:g.94043274A>G	ClinGen:CA4347150	C0268345 130060 Ehlers-Danlos syndrome, procollagen proteinase deficient;
NM_000089.4(COL1A2):c.1665+20T>C	1278	COL1A2	Likely benign	-1	RCV002681792;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94043279	94043279	NC_000007.13:g.94043279T>C	-
NM_000089.4(COL1A2):c.1666-17T>C	1278	COL1A2	Likely benign	758247671	RCV002203872;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94043517	94043517	94043517	-
NM_000089.4(COL1A2):c.1666G>T (p.Gly556Cys)	1278	COL1A2	Pathogenic	1554396832	RCV002234409;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94043534	94043534	7:g.94043534G>T	ClinGen:CA368222340	C0268335 130000 Ehlers-Danlos syndrome, classic type;
NM_000089.4(COL1A2):c.1675G>A (p.Gly559Ser)	1278	COL1A2	Pathogenic	-1	RCV003010411;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94043543	94043543	NC_000007.13:g.94043543G>A	-
NM_000089.4(COL1A2):c.1678C>A (p.Pro560Thr)	1278	COL1A2	Uncertain significance	2115910291	RCV001884693;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94043546	94043546	94043546	-
NM_000089.4(COL1A2):c.1689C>T (p.Pro563=)	1278	COL1A2	Likely benign	-1	RCV002414607\|RCV003097120;	N	MedGen:CN230736\|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94043557	94043557		-
NM_000089.4(COL1A2):c.1690G>A (p.Ala564Thr)	1278	COL1A2	Uncertain significance	41317153	RCV000414037\|RCV002521432;	N	MedGen:CN169374\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94043558	94043558	7:g.94043558G>A	ClinGen:CA4347171	CN169374 not specified;
NM_000089.4(COL1A2):c.1693G>A (p.Gly565Ser)	1278	COL1A2	Pathogenic	-1	RCV003060129;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94043561	94043561	NC_000007.13:g.94043561G>A	-
NM_000089.4(COL1A2):c.1694G>C (p.Gly565Ala)	1278	COL1A2	Likely pathogenic	794727470	RCV000176911\|RCV002516717;	N	MedGen:CN517202\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94043562	94043562	7:g.94043562G>C	ClinGen:CA243024	CN517202 not provided;
NM_000089.4(COL1A2):c.1705A>G (p.Lys569Glu)	1278	COL1A2	Uncertain significance	2115910396	RCV001925265;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94043573	94043573	94043573	-
NM_000089.4(COL1A2):c.1710dup (p.Gly571fs)	1278	COL1A2	Pathogenic	-1	RCV003013159;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94043577	94043578	NC_000007.13:g.94043578dup	-
NM_000089.4(COL1A2):c.1710A>T (p.Pro570=)	1278	COL1A2	Likely benign	373341681	RCV002231008;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94043578	94043578	NC_000007.13:g.94043578A>T	ClinGen:CA162927306	C0268335 130000 Ehlers-Danlos syndrome, classic type;
NM_000089.4(COL1A2):c.1719+7A>T	1278	COL1A2	Likely benign	1554396853	RCV002231230;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94043594	94043594	7:g.94043594A>T	ClinGen:CA658657691	C0268335 130000 Ehlers-Danlos syndrome, classic type;
NM_000089.4(COL1A2):c.1719+19A>G	1278	COL1A2	Uncertain significance	-1	RCV002881069;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94043606	94043606	NC_000007.13:g.94043606A>G	-
NM_000089.4(COL1A2):c.1720-13A>C	1278	COL1A2	Likely benign	755024426	RCV002083780;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94044525	94044525	94044525	-
NM_000089.4(COL1A2):c.1727A>G (p.His576Arg)	1278	COL1A2	Uncertain significance	-1	RCV002399135\|RCV003100806;	N	MedGen:CN230736\|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94044545	94044545	94044545	-
NM_000089.4(COL1A2):c.1748G>C (p.Gly583Ala)	1278	COL1A2	Pathogenic	1554396983	RCV002231231;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94044566	94044566	NC_000007.13:g.94044566G>C	ClinGen:CA368222519	C0268335 130000 Ehlers-Danlos syndrome, classic type;
NM_000089.4(COL1A2):c.1750C>A (p.Pro584Thr)	1278	COL1A2	Uncertain significance	-1	RCV002882327;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94044568	94044568	NC_000007.13:g.94044568C>A	-
NM_000089.4(COL1A2):c.1757G>C (p.Gly586Ala)	1278	COL1A2	Pathogenic	121912907	RCV001915570;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94044575	94044575	94044575	-
NM_000089.4(COL1A2):c.1761A>G (p.Pro587=)	1278	COL1A2	Likely benign	746150563	RCV000755944\|RCV002533780;	N	MedGen:CN517202\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94044579	94044579	NC_000007.13:g.94044579A>G	-
NM_000089.4(COL1A2):c.1764+1G>T	1278	COL1A2	Likely pathogenic	72658140	RCV001065085;	N	MONDO:MONDO:0007522,MedGen:C4225429, Orphanet:287; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94044583	94044583	7:g.94044583G>T	-
NM_000089.4(COL1A2):c.1764+7G>A	1278	COL1A2	Likely benign	-1	RCV002717159;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94044589	94044589	NC_000007.13:g.94044589G>A	-
NM_000089.4(COL1A2):c.1764+8T>C	1278	COL1A2	Likely benign	-1	RCV002862152;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94044590	94044590	NC_000007.13:g.94044590T>C	-
NM_000089.4(COL1A2):c.1764+13T>G	1278	COL1A2	Likely benign	780458719	RCV000604684\|RCV002066604;	N	MedGen:CN169374\|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94044595	94044595	7:g.94044595T>G	ClinGen:CA4347196	CN169374 not specified;
NM_000089.4(COL1A2):c.1765-5T>C	1278	COL1A2	Uncertain significance	2115916781	RCV001940965\|RCV002397944;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000\|MedGen:CN230736	7	94045712	94045712	94045712	-
NM_000089.4(COL1A2):c.1770A>G (p.Glu590=)	1278	COL1A2	Likely benign	138019868	RCV000616980\|RCV002232589\|RCV002404638;	N	MedGen:CN169374\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000\|MedGen:CN230736	7	94045722	94045722	7:g.94045722A>G	ClinGen:CA4347203	CN169374 not specified;
NM_000089.4(COL1A2):c.1772G>A (p.Arg591His)	1278	COL1A2	Uncertain significance	-1	RCV003001885;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94045724	94045724	NC_000007.13:g.94045724G>A	-
NM_000089.4(COL1A2):c.1772G>C (p.Arg591Pro)	1278	COL1A2	Uncertain significance	-1	RCV003022796;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94045724	94045724	NC_000007.13:g.94045724G>C	-
NM_000089.4(COL1A2):c.1773C>T (p.Arg591=)	1278	COL1A2	Likely benign	774232044	RCV000951379\|RCV002402172\|RCV002521784;	N	MedGen:C3661900\|MedGen:CN230736\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94045725	94045725	7:g.94045725C>T	ClinGen:CA4347205	CN169374 not specified;
NM_000089.4(COL1A2):c.1774G>A (p.Gly592Ser)	1278	COL1A2	Pathogenic	72658141	RCV001596844\|RCV001866248;	N	MedGen:C3661900\|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94045726	94045726	94045726	-
NM_000089.4(COL1A2):c.1780C>G (p.Pro594Ala)	1278	COL1A2	Uncertain significance	1396856908	RCV002234406;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94045732	94045732	7:g.94045732C>G	ClinGen:CA368222589	C0268335 130000 Ehlers-Danlos syndrome, classic type;
NM_000089.4(COL1A2):c.1793G>A (p.Gly598Asp)	1278	COL1A2	Likely pathogenic	72658142	RCV002003093;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94045745	94045745	94045745	-
NM_000089.4(COL1A2):c.1793G>C (p.Gly598Ala)	1278	COL1A2	Likely pathogenic	72658142	RCV002046893\|RCV003107863;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:C3661900	7	94045745	94045745	94045745	-
NM_000089.4(COL1A2):c.1801G>A (p.Gly601Ser)	1278	COL1A2	Pathogenic	72658143	RCV000490730\|RCV000594712\|RCV001849383\|RCV002230966\|RCV003139688\|RCV003152709;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:C3661900\|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,	7	94045753	94045753	7:g.94045753G>A	ClinGen:CA162929069	C0023931 166200 Osteogenesis imperfecta type I;
NM_000089.4(COL1A2):c.1804C>T (p.Pro602Ser)	1278	COL1A2	Uncertain significance	906800567	RCV001991831;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94045756	94045756	94045756	-
NM_000089.4(COL1A2):c.1809del (p.Gly604fs)	1278	COL1A2	Pathogenic	1321582299	RCV002007427;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94045761	94045761	94045760	-
NM_000089.4(COL1A2):c.1811G>A (p.Gly604Asp)	1278	COL1A2	Likely pathogenic	2115917059	RCV002028595;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94045763	94045763	94045763	-
NM_000089.4(COL1A2):c.1816A>G (p.Ile606Val)	1278	COL1A2	Uncertain significance	-1	RCV002624313;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94045768	94045768	NC_000007.13:g.94045768A>G	-
NM_000089.4(COL1A2):c.1817T>C (p.Ile606Thr)	1278	COL1A2	Uncertain significance	757262502	RCV002234088;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94045769	94045769	NC_000007.13:g.94045769T>C	-	C0268335 130000 Ehlers-Danlos syndrome, classic type;
NM_000089.4(COL1A2):c.1820G>C (p.Gly607Ala)	1278	COL1A2	Likely pathogenic	1792043985	RCV001240952;	N	MONDO:MONDO:0007522,MedGen:C4225429, Orphanet:287; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94045772	94045772	7:g.94045772G>C	-
NM_000089.4(COL1A2):c.1825C>A (p.Arg609=)	1278	COL1A2	Benign/Likely benign	765398195	RCV002236044\|RCV002409127;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000\|MedGen:CN230736	7	94045777	94045777	7:g.94045777C>A	-
NM_000089.4(COL1A2):c.1837G>A (p.Gly613Arg)	1278	COL1A2	Likely pathogenic	1792044352	RCV002241549\|RCV003399010;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000, Orphanet:98249	7	94045789	94045789	7:g.94045789G>A	-
NM_000089.4(COL1A2):c.1838G>A (p.Gly613Glu)	1278	COL1A2	Likely pathogenic	2115917195	RCV002277776\|RCV003096230;	N	MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94045790	94045790	94045790	-
NM_000089.4(COL1A2):c.1840C>T (p.Pro614Ser)	1278	COL1A2	Uncertain significance	-1	RCV003032609;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94045792	94045792	NC_000007.13:g.94045792C>T	-
NM_000089.4(COL1A2):c.1842C>A (p.Pro614=)	1278	COL1A2	Likely benign	931023370	RCV002126081;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94045794	94045794	94045794	-
NM_000089.4(COL1A2):c.1844C>T (p.Pro615Leu)	1278	COL1A2	Uncertain significance	780264582	RCV002241240;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94045796	94045796	7:g.94045796C>T	-
NM_000089.4(COL1A2):c.1846G>A (p.Gly616Arg)	1278	COL1A2	Pathogenic	-1	RCV002816113;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94045798	94045798	NC_000007.13:g.94045798G>A	-
NM_000089.4(COL1A2):c.1854_1856del (p.Asp618_Gly619delinsGlu)	1278	COL1A2	Likely pathogenic	2115917306	RCV001993591;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94045806	94045808	94045805	-
NM_000089.4(COL1A2):c.1854T>C (p.Asp618=)	1278	COL1A2	Likely benign	-1	RCV002927121;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94045806	94045806		-
NM_000089.4(COL1A2):c.1863+12T>C	1278	COL1A2	Likely benign	-1	RCV002735540;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94045827	94045827	NC_000007.13:g.94045827T>C	-
NM_000089.4(COL1A2):c.1864-16A>G	1278	COL1A2	Likely benign	-1	RCV002575047;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94047020	94047020	NC_000007.13:g.94047020A>G	-
NM_000089.4(COL1A2):c.1866T>C (p.Gly622=)	1278	COL1A2	Benign/Likely benign	765470622	RCV000320520\|RCV000374882\|RCV000631541\|RCV002229986\|RCV002411257;	N	MONDO:MONDO:0040501,MedGen:CN293783,OMIM:617821\|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,	7	94047038	94047038	7:g.94047038T>C	ClinGen:CA4347220	C0268335 130000 Ehlers-Danlos syndrome, classic type;
NM_000089.4(COL1A2):c.1870C>G (p.Pro624Ala)	1278	COL1A2	Uncertain significance	886062517	RCV000280599\|RCV000316972\|RCV001861310;	N	MONDO:MONDO:0040501,MedGen:CN293783,OMIM:617821\|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94047042	94047042	7:g.94047042C>G	ClinGen:CA10626600	C0268345 130060 Ehlers-Danlos syndrome, procollagen proteinase deficient;
NM_000089.4(COL1A2):c.1873G>T (p.Gly625Cys)	1278	COL1A2	Likely pathogenic	193922162	RCV002033708\|RCV002287521;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|Human Phenotype Ontology:HP:0000924,MedGen:C4021790	7	94047045	94047045	94047045	-
NM_000089.4(COL1A2):c.1874G>C (p.Gly625Ala)	1278	COL1A2	Likely pathogenic	72658145	RCV001969058;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94047046	94047046	94047046	-
NM_000089.4(COL1A2):c.1876G>A (p.Val626Met)	1278	COL1A2	Uncertain significance	374878685	RCV000680485\|RCV001564246\|RCV002232814;	N	MONDO:MONDO:0003900,MedGen:C0009782\|MedGen:C3661900\|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94047048	94047048	NC_000007.13:g.94047048G>A	-	C0009782 Connective tissue disorder;
NM_000089.4(COL1A2):c.1878G>T (p.Val626=)	1278	COL1A2	Benign	1800238	RCV000296029\|RCV000371564\|RCV000441385\|RCV001511698\|RCV002411258;	N	MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MONDO:MONDO:0040501,MedGen:CN293783,OMIM:617821\|MedGen:CN169374\|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796,O	7	94047050	94047050	7:g.94047050G>T	ClinGen:CA4347225	C0268345 130060 Ehlers-Danlos syndrome, procollagen proteinase deficient;
NM_000089.4(COL1A2):c.1880T>C (p.Val627Ala)	1278	COL1A2	Uncertain significance	760732696	RCV001557113\|RCV002414263\|RCV002570713;	N	MedGen:C3661900\|MedGen:CN230736\|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94047052	94047052	94047052	-
NM_000089.4(COL1A2):c.1892G>T (p.Gly631Val)	1278	COL1A2	Pathogenic	1584324507	RCV001809838\|RCV002235563;	N	MONDO:MONDO:0008148,MedGen:C0268363,OMIM:166220, Orphanet:216820, Orphanet:666\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94047064	94047064	7:g.94047064G>T	-
NM_000089.4(COL1A2):c.1892G>A (p.Gly631Asp)	1278	COL1A2	Pathogenic	1584324507	RCV001953739\|RCV003236914;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:C3661900	7	94047064	94047064	94047064	-
NM_000089.4(COL1A2):c.1898C>G (p.Ala633Gly)	1278	COL1A2	Uncertain significance	2115921517	RCV001937766;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94047070	94047070	94047070	-
NM_000089.4(COL1A2):c.1902T>C (p.Gly634=)	1278	COL1A2	Likely benign	-1	RCV003056754;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94047074	94047074		-
NM_000089.4(COL1A2):c.1908T>A (p.Ser636=)	1278	COL1A2	Uncertain significance	1584324517	RCV002234827;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94047080	94047080	7:g.94047080T>A	-
NM_000089.4(COL1A2):c.1912C>T (p.Pro638Ser)	1278	COL1A2	Uncertain significance	-1	RCV002927353\|RCV003418648;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000\|	7	94047084	94047084	NC_000007.13:g.94047084C>T	-
NM_000089.4(COL1A2):c.1915A>G (p.Ser639Gly)	1278	COL1A2	Uncertain significance	766541995	RCV002240366;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94047087	94047087	7:g.94047087A>G	-
NM_000089.4(COL1A2):c.1925C>T (p.Pro642Leu)	1278	COL1A2	Uncertain significance	1064797338	RCV000487889\|RCV002527009;	N	MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94047097	94047097	7:g.94047097C>T	ClinGen:CA16621857	CN517202 not provided;
NM_000089.4(COL1A2):c.1930G>A (p.Glu644Lys)	1278	COL1A2	Uncertain significance	143178652	RCV001773834\|RCV002538779;	N	MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94047102	94047102	94047102	-
NM_000089.4(COL1A2):c.1943C>T (p.Ala648Val)	1278	COL1A2	Uncertain significance	-1	RCV002622981;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94047115	94047115	NC_000007.13:g.94047115C>T	-
NM_000089.4(COL1A2):c.1948A>G (p.Ile650Val)	1278	COL1A2	Uncertain significance	781672171	RCV001959874;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94047120	94047120	94047120	-
NM_000089.4(COL1A2):c.1963G>A (p.Gly655Arg)	1278	COL1A2	Pathogenic	2115921786	RCV001941280;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94047135	94047135	94047135	-
NM_000089.4(COL1A2):c.1964G>A (p.Gly655Glu)	1278	COL1A2	Pathogenic	1554397275	RCV002231232;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94047136	94047136	7:g.94047136G>A	ClinGen:CA368222956	C0268335 130000 Ehlers-Danlos syndrome, classic type;
NM_000089.4(COL1A2):c.1971+3A>T	1278	COL1A2	Uncertain significance	756587993	RCV002234289;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94047146	94047146	7:g.94047146A>T	-
NM_000089.4(COL1A2):c.1971+3A>G	1278	COL1A2	Uncertain significance	756587993	RCV001970886;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94047146	94047146	94047146	-
NM_000089.4(COL1A2):c.1971+4C>T	1278	COL1A2	Uncertain significance	-1	RCV003069732;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94047147	94047147	NC_000007.13:g.94047147C>T	-
NM_000089.4(COL1A2):c.1971+5G>A	1278	COL1A2	Conflicting interpretations of pathogenicity	375027186	RCV000350991\|RCV000386729\|RCV001613205\|RCV002229987;	N	MONDO:MONDO:0040501,MedGen:CN293783,OMIM:617821\|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,	7	94047148	94047148	7:g.94047148G>A	ClinGen:CA10629666	C0268345 130060 Ehlers-Danlos syndrome, procollagen proteinase deficient;
NM_000089.4(COL1A2):c.1971+6T>C	1278	COL1A2	Uncertain significance	1345215762	RCV002231233;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94047149	94047149	7:g.94047149T>C	ClinGen:CA576323030	C0268335 130000 Ehlers-Danlos syndrome, classic type;
NM_000089.4(COL1A2):c.1971+10G>C	1278	COL1A2	Likely benign	-1	RCV003076411;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94047153	94047153	NC_000007.13:g.94047153G>C	-
NM_000089.4(COL1A2):c.1971+18T>C	1278	COL1A2	Benign/Likely benign	41317174	RCV000841390\|RCV002068584;	N	MedGen:C3661900\|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94047161	94047161	7:g.94047161T>C	-
NM_000089.4(COL1A2):c.1972-9T>C	1278	COL1A2	Likely benign	372800013	RCV002103295;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94047802	94047802	94047802	-
NM_000089.4(COL1A2):c.1972-7C>T	1278	COL1A2	Likely benign	776401729	RCV002540918;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94047804	94047804	7:g.94047804C>T	-
NM_000089.4(COL1A2):c.1976A>G (p.Glu659Gly)	1278	COL1A2	Uncertain significance	766488808	RCV000631530;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0007522,MedGen:C4225429, Orphanet:287	7	94047815	94047815	7:g.94047815A>G	ClinGen:CA4347249	C0268335 130000 Ehlers-Danlos syndrome, classic type;
NM_000089.4(COL1A2):c.1981G>T (p.Gly661Cys)	1278	COL1A2	Pathogenic	72658152	RCV002242823;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94047820	94047820	94047820	-
NM_000089.4(COL1A2):c.1981G>C (p.Gly661Arg)	1278	COL1A2	Likely pathogenic	-1	RCV002894768;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94047820	94047820	NC_000007.13:g.94047820G>C	-
NM_000089.4(COL1A2):c.1991G>A (p.Gly664Asp)	1278	COL1A2	Pathogenic/Likely pathogenic	72658154	RCV000029595\|RCV001781322\|RCV002513242;	N	MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MedGen:CN517202\|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94047830	94047830	7:g.94047830G>A	ClinGen:CA260348	C0029434 Osteogenesis imperfecta;
NM_000089.4(COL1A2):c.2008G>A (p.Gly670Ser)	1278	COL1A2	Likely pathogenic	-1	RCV002867714;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94047847	94047847	NC_000007.13:g.94047847G>A	-
NM_000089.4(COL1A2):c.2018G>A (p.Gly673Asp)	1278	COL1A2	Pathogenic	2115924495	RCV001959025;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94047857	94047857	94047857	-
NM_000089.4(COL1A2):c.2023C>T (p.Arg675Cys)	1278	COL1A2	Uncertain significance	778295967	RCV002232960;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94047862	94047862	NC_000007.13:g.94047862C>T	-	C0268335 130000 Ehlers-Danlos syndrome, classic type;
NM_000089.4(COL1A2):c.2024G>A (p.Arg675His)	1278	COL1A2	Uncertain significance	754443174	RCV002240574\|RCV003327488;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:C3661900	7	94047863	94047863	7:g.94047863G>A	-
NM_000089.4(COL1A2):c.2025+4A>G	1278	COL1A2	Uncertain significance	-1	RCV003060130;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94047868	94047868	NC_000007.13:g.94047868A>G	-
NM_000089.4(COL1A2):c.2025+9A>G	1278	COL1A2	Benign/Likely benign	368837694	RCV000292505\|RCV000347585\|RCV002229988;	N	MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MONDO:MONDO:0040501,MedGen:CN293783,OMIM:617821\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94047873	94047873	7:g.94047873A>G	ClinGen:CA4347260	C0268335 130000 Ehlers-Danlos syndrome, classic type;
NM_000089.4(COL1A2):c.2025+13T>C	1278	COL1A2	Likely benign	-1	RCV003080905;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94047877	94047877	NC_000007.13:g.94047877T>C	-
NM_000089.4(COL1A2):c.2026-19G>A	1278	COL1A2	Likely benign	546549922	RCV002116624;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94048791	94048791	94048791	-
NM_000089.4(COL1A2):c.2026-19G>C	1278	COL1A2	Likely benign	546549922	RCV002136460;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94048791	94048791	94048791	-
NM_000089.4(COL1A2):c.2026-1_2042dup	1278	COL1A2	Conflicting interpretations of pathogenicity	1584325529	RCV000860002\|RCV002234889;	N	MONDO:MONDO:0009804,MedGen:C0268362,OMIM:259420, Orphanet:216812, Orphanet:666\|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94048808	94048809	7:g.94048808_94048809insGGGTGCTCCTGGTGCTGT	-
NM_000089.4(COL1A2):c.2027G>A (p.Gly676Asp)	1278	COL1A2	Pathogenic	66883877	RCV000662309\|RCV001861725;	N	Human Phenotype Ontology:HP:0000703,MONDO:MONDO:0018849,MedGen:C0011436, Orphanet:49042\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94048811	94048811	7:g.94048811G>A	-	C0011436 Dentinogenesis imperfecta;
NM_000089.4(COL1A2):c.2036G>C (p.Gly679Ala)	1278	COL1A2	Likely pathogenic	2115927860	RCV001990385;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94048820	94048820	94048820	-
NM_000089.4(COL1A2):c.2040T>C (p.Ala680=)	1278	COL1A2	Likely benign	2115927910	RCV002166237;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94048824	94048824	94048824	-
NM_000089.4(COL1A2):c.2046T>A (p.Gly682=)	1278	COL1A2	Likely benign	2115927971	RCV002240666;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94048830	94048830	94048830	-
NM_000089.4(COL1A2):c.2050C>T (p.Pro684Ser)	1278	COL1A2	Uncertain significance	747954056	RCV002242087;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94048834	94048834	94048834	-
NM_000089.4(COL1A2):c.2063G>A (p.Gly688Glu)	1278	COL1A2	Likely pathogenic	1792108068	RCV002240948;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94048847	94048847	7:g.94048847G>A	-
NM_000089.4(COL1A2):c.2072G>A (p.Gly691Asp)	1278	COL1A2	Likely pathogenic	1792108270	RCV001089660;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94048856	94048856	7:g.94048856G>A	-
NM_000089.4(COL1A2):c.2077C>T (p.Arg693Trp)	1278	COL1A2	Uncertain significance	1342960126	RCV001879599;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94048861	94048861	94048861	-
NM_000089.4(COL1A2):c.2078G>A (p.Arg693Gln)	1278	COL1A2	Benign/Likely benign	34147460	RCV000440416\|RCV000549882\|RCV001161113\|RCV001161114\|RCV001531678\|RCV002279222\|RCV002418335\|RCV002481343;	N	MedGen:CN169374\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000\|MONDO:MONDO:0040501,MedGen:CN293783,OMIM:617821\|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200,O	7	94048862	94048862	7:g.94048862G>A	ClinGen:CA4347290	C0268335 130000 Ehlers-Danlos syndrome, classic type;
NM_000089.4(COL1A2):c.2079+3A>G	1278	COL1A2	Conflicting interpretations of pathogenicity	1226079110	RCV000606996\|RCV002232591\|RCV002420611;	N	MedGen:CN169374\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000\|MedGen:CN230736	7	94048866	94048866	7:g.94048866A>G	ClinGen:CA576323314	CN169374 not specified;
NM_000089.4(COL1A2):c.2079+15dup	1278	COL1A2	Benign	-1	RCV002861277;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94048874	94048875	NC_000007.13:g.94048878dup	-
NM_000089.4(COL1A2):c.2080-20C>A	1278	COL1A2	Likely benign	-1	RCV003060289;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94049525	94049525	NC_000007.13:g.94049525C>A	-
NM_000089.4(COL1A2):c.2080-15T>G	1278	COL1A2	Likely benign	-1	RCV003052898;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94049530	94049530	NC_000007.13:g.94049530T>G	-
NM_000089.4(COL1A2):c.2080-11T>C	1278	COL1A2	Likely benign	983048164	RCV002179633;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94049534	94049534	94049534	-
NM_000089.4(COL1A2):c.2080G>A (p.Gly694Ser)	1278	COL1A2	Likely pathogenic	121912908	RCV002050651;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94049545	94049545	94049545	-
NM_000089.4(COL1A2):c.2081G>A (p.Gly694Asp)	1278	COL1A2	Pathogenic	-1	RCV003060131;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94049546	94049546	NC_000007.13:g.94049546G>A	-
NM_000089.4(COL1A2):c.2082C>A (p.Gly694=)	1278	COL1A2	Benign/Likely benign	193229878	RCV000029596\|RCV001161115\|RCV002228063\|RCV002415430;	N	MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MONDO:MONDO:0040501,MedGen:CN293783,OMIM:617821\|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedG	7	94049547	94049547	7:g.94049547C>A	ClinGen:CA260351	C0268335 130000 Ehlers-Danlos syndrome, classic type;
NM_000089.4(COL1A2):c.2082C>T (p.Gly694=)	1278	COL1A2	Likely benign	193229878	RCV000429978\|RCV001851082\|RCV003298454;	N	MedGen:CN169374\|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN230736	7	94049547	94049547	7:g.94049547C>T	ClinGen:CA4347308	CN169374 not specified;
NM_000089.4(COL1A2):c.2083G>A (p.Glu695Lys)	1278	COL1A2	Uncertain significance	-1	RCV002610900\|RCV003143503;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN517202	7	94049548	94049548	NC_000007.13:g.94049548G>A	-
NM_000089.4(COL1A2):c.2091G>A (p.Gly697=)	1278	COL1A2	Likely benign	749221597	RCV002184929\|RCV002423312;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN230736	7	94049556	94049556	94049556	-
NM_000089.4(COL1A2):c.2097T>C (p.Ala699=)	1278	COL1A2	Likely benign	-1	RCV002867899;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94049562	94049562		-
NM_000089.4(COL1A2):c.2098G>C (p.Gly700Arg)	1278	COL1A2	Pathogenic	72658160	RCV002235432;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94049563	94049563	7:g.94049563G>C	-
NM_000089.4(COL1A2):c.2098G>T (p.Gly700Cys)	1278	COL1A2	Pathogenic	72658160	RCV002234258\|RCV003223677;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000\|MedGen:C3661900	7	94049563	94049563	7:g.94049563G>T	-
NM_000089.4(COL1A2):c.2107G>T (p.Gly703Cys)	1278	COL1A2	Likely pathogenic	-1	RCV002853015;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94049572	94049572	NC_000007.13:g.94049572G>T	-
NM_000089.4(COL1A2):c.2123G>C (p.Arg708Pro)	1278	COL1A2	Uncertain significance	72658163	RCV002233929;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94049588	94049588	NC_000007.13:g.94049588G>C	ClinGen:CA368223286	C0268335 130000 Ehlers-Danlos syndrome, classic type;
NM_000089.4(COL1A2):c.2133+6T>A	1278	COL1A2	Pathogenic	72658164	RCV001255997\|RCV002231011;	N	MONDO:MONDO:0008147,MedGen:C0268358,OMIM:166210, Orphanet:216804\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94049604	94049604	7:g.94049604T>A	ClinGen:CA162935440	C0268335 130000 Ehlers-Danlos syndrome, classic type;
NM_000089.4(COL1A2):c.2133+8A>C	1278	COL1A2	Likely benign	1554397570	RCV002231234;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94049606	94049606	7:g.94049606A>C	ClinGen:CA658657692	C0268335 130000 Ehlers-Danlos syndrome, classic type;
NM_000089.4(COL1A2):c.2133+12C>A	1278	COL1A2	Benign/Likely benign	554520173	RCV000606317\|RCV002529737;	N	MedGen:CN169374\|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94049610	94049610	7:g.94049610C>A	ClinGen:CA4347319	CN169374 not specified;
NM_000089.4(COL1A2):c.2133+19C>A	1278	COL1A2	Likely benign	-1	RCV002606844;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94049617	94049617	NC_000007.13:g.94049617C>A	-
NM_000089.4(COL1A2):c.2134-8C>G	1278	COL1A2	Likely benign	1792132576	RCV002167269;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94049695	94049695	94049695	-
NM_000089.4(COL1A2):c.2134-4C>T	1278	COL1A2	Likely benign	-1	RCV002914784;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94049699	94049699	NC_000007.13:g.94049699C>T	-
NM_000089.4(COL1A2):c.2140C>G (p.Arg714Gly)	1278	COL1A2	Uncertain significance	-1	RCV003091518;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94049709	94049709	NC_000007.13:g.94049709C>G	-
NM_000089.4(COL1A2):c.2141G>A (p.Arg714His)	1278	COL1A2	Uncertain significance	773392397	RCV001940539;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94049710	94049710	94049710	-
NM_000089.4(COL1A2):c.2141G>T (p.Arg714Leu)	1278	COL1A2	Uncertain significance	773392397	RCV001954852;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94049710	94049710	94049710	-
NM_000089.4(COL1A2):c.2148_2156delinsACGTGG (p.Val717_Pro719delinsArgGly)	1278	COL1A2	Uncertain significance	1584326175	RCV000814015;	N	MONDO:MONDO:0007522,MedGen:C4225429, Orphanet:287; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94049717	94049725	7:g.94049718_94049725del	-
NM_000089.4(COL1A2):c.2151C>T (p.Val717=)	1278	COL1A2	Likely benign	763380136	RCV002196718;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94049720	94049720	94049720	-
NM_000089.4(COL1A2):c.2163C>T (p.Gly721=)	1278	COL1A2	Conflicting interpretations of pathogenicity	150670521	RCV000680487\|RCV000827609\|RCV001162672\|RCV001162673\|RCV002231012\|RCV002279336\|RCV002420358;	N	MONDO:MONDO:0003900,MedGen:C0009782\|MedGen:C3661900\|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MONDO:MONDO:0040501,MedGen:CN293783,OMIM:617821\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666;	7	94049732	94049732	7:g.94049732C>T	ClinGen:CA4347337	C0009782 Connective tissue disorder;
NM_000089.4(COL1A2):c.2168A>G (p.Asn723Ser)	1278	COL1A2	Conflicting interpretations of pathogenicity	189374343	RCV000307937\|RCV000404554\|RCV000659378\|RCV001718783\|RCV002229911\|RCV002429325;	N	MONDO:MONDO:0040501,MedGen:CN293783,OMIM:617821\|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MONDO:MONDO:0003900,MedGen:C0009782\|MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666;	7	94049737	94049737	NC_000007.13:g.94049737A>G	ClinGen:CA4347339	C0009782 Connective tissue disorder;
NM_000089.4(COL1A2):c.2168A>T (p.Asn723Ile)	1278	COL1A2	Uncertain significance	189374343	RCV000998844\|RCV002235286;	N	MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94049737	94049737	7:g.94049737A>T	-
NM_000089.4(COL1A2):c.2187+6T>A	1278	COL1A2	Uncertain significance	794727585	RCV000177857\|RCV001852202;	N	MedGen:CN517202\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94049762	94049762	7:g.94049762T>A	ClinGen:CA244810	CN169374 not specified;
NM_000089.4(COL1A2):c.2187+8T>C	1278	COL1A2	Likely benign	763816519	RCV002147943;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94049764	94049764	94049764	-
NM_000089.4(COL1A2):c.2188-12T>C	1278	COL1A2	Likely benign	-1	RCV002630553;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94049841	94049841	NC_000007.13:g.94049841T>C	-
NM_000089.4(COL1A2):c.2188-11dup	1278	COL1A2	Likely benign	-1	RCV002942552;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94049841	94049842	NC_000007.13:g.94049842dup	-
NM_000089.4(COL1A2):c.2188G>A (p.Gly730Ser)	1278	COL1A2	Pathogenic	72658171	RCV002240267;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94049853	94049853	7:g.94049853G>A	-
NM_000089.4(COL1A2):c.2194G>A (p.Ala732Thr)	1278	COL1A2	Uncertain significance	-1	RCV002910129;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94049859	94049859	NC_000007.13:g.94049859G>A	-
NM_000089.4(COL1A2):c.2200C>G (p.Gln734Glu)	1278	COL1A2	Uncertain significance	774919512	RCV001935187;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94049865	94049865	94049865	-
NM_000089.4(COL1A2):c.2206G>T (p.Gly736Cys)	1278	COL1A2	Pathogenic	72658173	RCV001596536\|RCV001882741\|RCV002222719;	N	MedGen:C3661900\|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666	7	94049871	94049871	94049871	-
NM_000089.4(COL1A2):c.2215G>A (p.Gly739Arg)	1278	COL1A2	Pathogenic	72658174	RCV001203350;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0007522,MedGen:C4225429, Orphanet:287	7	94049880	94049880	7:g.94049880G>A	-
NM_000089.4(COL1A2):c.2215G>C (p.Gly739Arg)	1278	COL1A2	Pathogenic	72658174	RCV002242992;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94049880	94049880	94049880	-
NM_000089.4(COL1A2):c.2242G>A (p.Gly748Ser)	1278	COL1A2	Likely pathogenic	1562905246	RCV002233545;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94049907	94049907	NC_000007.13:g.94049907G>A	-	C0268335 130000 Ehlers-Danlos syndrome, classic type;
NM_000089.4(COL1A2):c.2245G>C (p.Glu749Gln)	1278	COL1A2	Uncertain significance	-1	RCV002604147;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94049910	94049910	NC_000007.13:g.94049910G>C	-
NM_000089.4(COL1A2):c.2250C>T (p.Asn750=)	1278	COL1A2	Likely benign	372783567	RCV002235832\|RCV002445103;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000\|MedGen:CN230736	7	94049915	94049915	7:g.94049915C>T	-
NM_000089.4(COL1A2):c.2251G>A (p.Gly751Ser)	1278	COL1A2	Pathogenic	72658176	RCV000018808\|RCV002228039;	N	MONDO:MONDO:0009804,MedGen:C0268362,OMIM:259420, Orphanet:216812, Orphanet:666\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94049916	94049916	7:g.94049916G>A	ClinGen:CA257792,UniProtKB:P08123#VAR_001881,OMIM:120160.0039	C0268362 259420 Osteogenesis imperfecta type III;
NM_000089.4(COL1A2):c.2252G>T (p.Gly751Val)	1278	COL1A2	Pathogenic	1792139807	RCV002241786;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94049917	94049917	7:g.94049917G>T	-
NM_000089.4(COL1A2):c.2255T>G (p.Val752Gly)	1278	COL1A2	Uncertain significance	1205884799	RCV001887533;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94049920	94049920	94049920	-
NM_000089.4(COL1A2):c.2260G>T (p.Gly754Cys)	1278	COL1A2	Pathogenic/Likely pathogenic	72658177	RCV000596743\|RCV002232561;	N	MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94049925	94049925	7:g.94049925G>T	ClinGen:CA162936060	C0268335 130000 Ehlers-Danlos syndrome, classic type;
NM_000089.4(COL1A2):c.2274C>T (p.Pro758=)	1278	COL1A2	Benign/Likely benign	541912705	RCV002231013\|RCV002448623;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000\|MedGen:CN230736	7	94049939	94049939	7:g.94049939C>T	ClinGen:CA4347367	C0268335 130000 Ehlers-Danlos syndrome, classic type;
NM_000089.4(COL1A2):c.2275G>A (p.Val759Ile)	1278	COL1A2	Uncertain significance	200501072	RCV002234405\|RCV002280133;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000\|MedGen:C3661900	7	94049940	94049940	NC_000007.13:g.94049940G>A	ClinGen:CA4347368	C0268335 130000 Ehlers-Danlos syndrome, classic type;
NM_000089.4(COL1A2):c.2277T>C (p.Val759=)	1278	COL1A2	Likely benign	-1	RCV002606813;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94049942	94049942		-
NM_000089.4(COL1A2):c.2278G>A (p.Gly760Arg)	1278	COL1A2	Pathogenic	1584326393	RCV002233867;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94049943	94049943	7:g.94049943G>A	-
NM_000089.4(COL1A2):c.2279G>T (p.Gly760Val)	1278	COL1A2	Likely pathogenic	1792140624	RCV002241451;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94049944	94049944	7:g.94049944G>T	-
NM_000089.4(COL1A2):c.2282C>G (p.Ala761Gly)	1278	COL1A2	Uncertain significance	-1	RCV003072594;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94049947	94049947	NC_000007.13:g.94049947C>G	-
NM_000089.4(COL1A2):c.2288G>A (p.Gly763Asp)	1278	COL1A2	Pathogenic/Likely pathogenic	72658179	RCV001941895\|RCV002243493;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000\|MONDO:MONDO:0008148,MedGen:C0268363,OMIM:166220, Orphanet:216820, Orphanet:666; MONDO:MONDO:0008147,MedGen:C0268358,OMIM:166210,Orp	7	94049953	94049953	94049953	-
NM_000089.4(COL1A2):c.2295+5G>C	1278	COL1A2	Uncertain significance	2115932392	RCV001998469;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94049965	94049965	94049965	-
NM_000089.4(COL1A2):c.2295+15C>G	1278	COL1A2	Likely benign	1359360545	RCV002151379;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94049975	94049975	94049975	-
NM_000089.4(COL1A2):c.2295+15C>T	1278	COL1A2	Likely benign	1359360545	RCV002107665;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94049975	94049975	94049975	-
NM_000089.4(COL1A2):c.2296-9del	1278	COL1A2	Likely benign	1193169956	RCV002089622;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94050310	94050310	94050309	-
NM_000089.4(COL1A2):c.2296-6A>G	1278	COL1A2	Likely benign	1004706789	RCV002169692;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94050315	94050315	94050315	-
NM_000089.4(COL1A2):c.2296-3T>G	1278	COL1A2	Uncertain significance	-1	RCV002801012;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94050318	94050318	NC_000007.13:g.94050318T>G	-
NM_000089.4(COL1A2):c.2296G>C (p.Gly766Arg)	1278	COL1A2	Pathogenic	72658182	RCV002241231;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94050321	94050321	7:g.94050321G>C	-
NM_000089.4(COL1A2):c.2305G>T (p.Gly769Cys)	1278	COL1A2	Pathogenic	1792147522	RCV002239310\|RCV002249643;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000\|MONDO:MONDO:0008147,MedGen:C0268358,OMIM:166210, Orphanet:216804	7	94050330	94050330	7:g.94050330G>T	-
NM_000089.4(COL1A2):c.2309C>T (p.Pro770Leu)	1278	COL1A2	Uncertain significance	149858889	RCV000998845\|RCV002236008\|RCV002445154;	N	MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000\|MedGen:CN230736	7	94050334	94050334	7:g.94050334C>T	-
NM_000089.4(COL1A2):c.2312C>T (p.Pro771Leu)	1278	COL1A2	Uncertain significance	569241110	RCV001924764;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94050337	94050337	94050337	-
NM_000089.4(COL1A2):c.2313C>T (p.Pro771=)	1278	COL1A2	Likely benign	144837722	RCV000631542\|RCV002431862;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0007522,MedGen:C4225429, Orphanet:287\|MedGen:CN230736	7	94050338	94050338	NC_000007.13:g.94050338C>T	ClinGen:CA4347387	C0268335 130000 Ehlers-Danlos syndrome, classic type;
NM_000089.4(COL1A2):c.2313C>G (p.Pro771=)	1278	COL1A2	Likely benign	144837722	RCV002236152\|RCV002432195;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN230736	7	94050338	94050338	94050338	-
NM_000089.4(COL1A2):c.2314G>A (p.Gly772Ser)	1278	COL1A2	Pathogenic/Likely pathogenic	72658185	RCV000481739\|RCV002244949\|RCV002230922\|RCV002279242;	N	MedGen:C3661900\|MONDO:MONDO:0008148,MedGen:C0268363,OMIM:166220, Orphanet:216820, Orphanet:666\|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MONDO:MONDO:0019019,MeSH:D010013,Me	7	94050339	94050339	7:g.94050339G>A	ClinGen:CA16618576	C0268335 130000 Ehlers-Danlos syndrome, classic type;
NM_000089.4(COL1A2):c.2314G>C (p.Gly772Arg)	1278	COL1A2	Likely pathogenic	72658185	RCV001961344\|RCV002469444;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000\|MONDO:MONDO:0009804,MedGen:C0268362,OMIM:259420, Orphanet:216812, Orphanet:666	7	94050339	94050339	94050339	-
NM_000089.4(COL1A2):c.2323G>C (p.Gly775Arg)	1278	COL1A2	Pathogenic	2115933691	RCV001891127;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94050348	94050348	94050348	-
NM_000089.4(COL1A2):c.2324G>A (p.Gly775Glu)	1278	COL1A2	Pathogenic/Likely pathogenic	1792148801	RCV001333194\|RCV002546615;	N	MONDO:MONDO:0040501,MedGen:CN293783,OMIM:617821\|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94050349	94050349	94050349	-
NM_000089.4(COL1A2):c.2329C>T (p.Arg777Cys)	1278	COL1A2	Uncertain significance	779108678	RCV002232981;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94050354	94050354	NC_000007.13:g.94050354C>T	-	C0268335 130000 Ehlers-Danlos syndrome, classic type;
NM_000089.4(COL1A2):c.2329C>G (p.Arg777Gly)	1278	COL1A2	Uncertain significance	-1	RCV003115148;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94050354	94050354	NC_000007.13:g.94050354C>G	-
NM_000089.4(COL1A2):c.2330G>A (p.Arg777His)	1278	COL1A2	Uncertain significance	746187799	RCV002447093\|RCV002241246;	N	MedGen:CN230736\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94050355	94050355	7:g.94050355G>A	-
NM_000089.4(COL1A2):c.2330GTG[1] (p.Gly778del)	1278	COL1A2	Pathogenic	-1	RCV002862767;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94050355	94050357	NC_000007.13:g.94050355GTG[1]	-
NM_000089.4(COL1A2):c.2333G>C (p.Gly778Ala)	1278	COL1A2	Likely pathogenic	2115933783	RCV002031537;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94050358	94050358	94050358	-
NM_000089.4(COL1A2):c.2341G>C (p.Gly781Arg)	1278	COL1A2	Pathogenic	1792149726	RCV002239349;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94050366	94050366	7:g.94050366G>C	-
NM_000089.4(COL1A2):c.2348dup (p.Gly784fs)	1278	COL1A2	Pathogenic	-1	RCV002785490;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94050367	94050368	NC_000007.13:g.94050373dup	-
NM_000089.4(COL1A2):c.2349+3G>A	1278	COL1A2	Uncertain significance	-1	RCV002647992;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94050377	94050377	NC_000007.13:g.94050377G>A	-
NM_000089.4(COL1A2):c.2349+16G>C	1278	COL1A2	Benign/Likely benign	112603291	RCV000444602\|RCV000710778\|RCV002059989;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94050390	94050390	7:g.94050390G>C	ClinGen:CA4347398	CN169374 not specified;
NM_000089.4(COL1A2):c.2350-20C>G	1278	COL1A2	Likely benign	-1	RCV003065255;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94051191	94051191	NC_000007.13:g.94051191C>G	-
NM_000089.4(COL1A2):c.2356A>C (p.Thr786Pro)	1278	COL1A2	Uncertain significance	774233882	RCV002242058\|RCV002473262\|RCV003294251;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:C3661900\|MedGen:CN230736	7	94051217	94051217	94051217	-
NM_000089.4(COL1A2):c.2360G>C (p.Gly787Ala)	1278	COL1A2	Pathogenic	2115936945	RCV002047662;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94051221	94051221	94051221	-
NM_000089.4(COL1A2):c.2372C>T (p.Ala791Val)	1278	COL1A2	Uncertain significance	1208084157	RCV002044412;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94051233	94051233	94051233	-
NM_000089.4(COL1A2):c.2380C>T (p.Arg794Trp)	1278	COL1A2	Uncertain significance	759251034	RCV002260772\|RCV003095868;	N	MedGen:C3661900\|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94051241	94051241	94051241	-
NM_000089.4(COL1A2):c.2382G>A (p.Arg794=)	1278	COL1A2	Likely benign	754562962	RCV000828381\|RCV002235595\|RCV002453913;	N	MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000\|MedGen:CN230736	7	94051243	94051243	7:g.94051243G>A	-
NM_000089.4(COL1A2):c.2385T>G (p.Thr795=)	1278	COL1A2	Likely benign	-1	RCV003031020;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94051246	94051246		-
NM_000089.4(COL1A2):c.2387G>C (p.Gly796Ala)	1278	COL1A2	Pathogenic	72658189	RCV000519428\|RCV002231208;	N	MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94051248	94051248	7:g.94051248G>C	ClinGen:CA162937261	CN517202 not provided;
NM_000089.4(COL1A2):c.2388T>C (p.Gly796=)	1278	COL1A2	Likely benign	370623514	RCV002241002\|RCV002456861;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN230736	7	94051249	94051249	94051249	-
NM_000089.4(COL1A2):c.2398C>G (p.Pro800Ala)	1278	COL1A2	Uncertain significance	-1	RCV002932828;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94051259	94051259	NC_000007.13:g.94051259C>G	-
NM_000089.4(COL1A2):c.2400C>T (p.Pro800=)	1278	COL1A2	Benign/Likely benign	139913150	RCV000842555\|RCV002448624\|RCV002528308;	N	MedGen:C3661900\|MedGen:CN230736\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94051261	94051261	NC_000007.13:g.94051261C>T	ClinGen:CA4347427	C0268335 130000 Ehlers-Danlos syndrome, classic type;
NM_000089.4(COL1A2):c.2403+3A>G	1278	COL1A2	Uncertain significance	-1	RCV002612603;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94051267	94051267	NC_000007.13:g.94051267A>G	-
NM_000089.4(COL1A2):c.2403+7A>G	1278	COL1A2	Likely benign	751913918	RCV000966593;	N	MONDO:MONDO:0007522,MedGen:C4225429, Orphanet:287; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94051271	94051271	7:g.94051271A>G	-
NM_000089.4(COL1A2):c.2404-17del	1278	COL1A2	Uncertain significance	-1	RCV003044474;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94052251	94052251	NC_000007.13:g.94052252del	-
NM_000089.4(COL1A2):c.2404-15T>C	1278	COL1A2	Uncertain significance	-1	RCV002938428;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94052254	94052254	NC_000007.13:g.94052254T>C	-
NM_000089.4(COL1A2):c.2406T>C (p.Gly802=)	1278	COL1A2	Likely benign	1792198032	RCV002096880;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94052271	94052271	94052271	-
NM_000089.4(COL1A2):c.2413G>T (p.Gly805Cys)	1278	COL1A2	Pathogenic	72658190	RCV002242851;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94052278	94052278	94052278	-
NM_000089.4(COL1A2):c.2427_2435dup (p.Pro812_Ala813insProGlyPro)	1278	COL1A2	Likely pathogenic	-1	RCV003037242;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94052283	94052284	NC_000007.13:g.94052292_94052300dup	-
NM_000089.4(COL1A2):c.2422G>A (p.Gly808Ser)	1278	COL1A2	Pathogenic	763053421	RCV002239383;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94052287	94052287	7:g.94052287G>A	-
NM_000089.4(COL1A2):c.2424T>C (p.Gly808=)	1278	COL1A2	Likely benign	766541855	RCV002234414;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94052289	94052289	7:g.94052289T>C	ClinGen:CA4347446	C0268335 130000 Ehlers-Danlos syndrome, classic type;
NM_000089.4(COL1A2):c.2425C>T (p.Pro809Ser)	1278	COL1A2	Conflicting interpretations of pathogenicity	145355907	RCV000497839\|RCV000680488\|RCV000791269\|RCV001164726\|RCV001164727\|RCV002231166\|RCV002446967\|RCV003114623;	N	MedGen:C3661900\|MONDO:MONDO:0003900,MedGen:C0009782\|\|MONDO:MONDO:0040501,MedGen:CN293783,OMIM:617821\|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94052290	94052290	7:g.94052290C>T	ClinGen:CA4347447	C0009782 Connective tissue disorder;
NM_000089.4(COL1A2):c.2431G>A (p.Gly811Ser)	1278	COL1A2	Pathogenic	2115940948	RCV001901796;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94052296	94052296	94052296	-
NM_000089.4(COL1A2):c.2441G>A (p.Gly814Glu)	1278	COL1A2	Likely pathogenic	1554397975	RCV002233931;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94052306	94052306	7:g.94052306G>A	ClinGen:CA368223938	C0268335 130000 Ehlers-Danlos syndrome, classic type;
NM_000089.4(COL1A2):c.2449G>T (p.Gly817Trp)	1278	COL1A2	Likely pathogenic	2115941022	RCV002016120;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94052314	94052314	94052314	-
NM_000089.4(COL1A2):c.2455C>T (p.Arg819Cys)	1278	COL1A2	Uncertain significance	2115941044	RCV002024557\|RCV002276989;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000\|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000, Orphanet:98249	7	94052320	94052320	94052320	-
NM_000089.4(COL1A2):c.2456G>A (p.Arg819His)	1278	COL1A2	Conflicting interpretations of pathogenicity	773985005	RCV000344148\|RCV000394670\|RCV001262348\|RCV002229912\|RCV003159117\|RCV002429326;	N	MONDO:MONDO:0040501,MedGen:CN293783,OMIM:617821\|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MONDO:MONDO:0030855,MedGen:C5436847,OMIM:619120\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MOND	7	94052321	94052321	NC_000007.13:g.94052321G>A	ClinGen:CA4347450	C0268345 130060 Ehlers-Danlos syndrome, procollagen proteinase deficient;
NM_000089.4(COL1A2):c.2465G>A (p.Arg822His)	1278	COL1A2	Uncertain significance	1800240	RCV001538376\|RCV002241120;	N	MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94052330	94052330	7:g.94052330G>A	-
NM_000089.4(COL1A2):c.2472C>T (p.Asp824=)	1278	COL1A2	Likely benign	-1	RCV002770539;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94052337	94052337		-
NM_000089.4(COL1A2):c.2474A>C (p.Gln825Pro)	1278	COL1A2	Uncertain significance	556922843	RCV001866867;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94052339	94052339	94052339	-
NM_000089.4(COL1A2):c.2474A>G (p.Gln825Arg)	1278	COL1A2	Uncertain significance	-1	RCV002616343;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94052339	94052339	NC_000007.13:g.94052339A>G	-
NM_000089.4(COL1A2):c.2481A>C (p.Pro827=)	1278	COL1A2	Likely benign	142310831	RCV002236331\|RCV002432210;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN230736	7	94052346	94052346	94052346	-
NM_000089.4(COL1A2):c.2481A>T (p.Pro827=)	1278	COL1A2	Likely benign	-1	RCV002858283;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94052346	94052346		-
NM_000089.4(COL1A2):c.2488C>G (p.Arg830Gly)	1278	COL1A2	Uncertain significance	-1	RCV003061127;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94052353	94052353	NC_000007.13:g.94052353C>G	-
NM_000089.4(COL1A2):c.2489G>A (p.Arg830Gln)	1278	COL1A2	Uncertain significance	768513176	RCV002047332;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94052354	94052354	94052354	-
NM_000089.4(COL1A2):c.2500G>A (p.Val834Ile)	1278	COL1A2	Uncertain significance	150993338	RCV001918157;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94052365	94052365	94052365	-
NM_000089.4(COL1A2):c.2506G>A (p.Ala836Thr)	1278	COL1A2	Uncertain significance	759738995	RCV001872289;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94052371	94052371	94052371	-
NM_000089.4(COL1A2):c.2508A>G (p.Ala836=)	1278	COL1A2	Likely benign	563505012	RCV002240960;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94052373	94052373	7:g.94052373A>G	-
NM_000089.4(COL1A2):c.2521G>A (p.Gly841Ser)	1278	COL1A2	Pathogenic	72658194	RCV002232871;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94052386	94052386	7:g.94052386G>A	-	C0268335 130000 Ehlers-Danlos syndrome, classic type;
NM_000089.4(COL1A2):c.2526C>T (p.Phe842=)	1278	COL1A2	Benign/Likely benign	41317725	RCV001164728\|RCV001164729\|RCV001561331\|RCV002240910\|RCV002451345;	N	MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MONDO:MONDO:0040501,MedGen:CN293783,OMIM:617821\|MedGen:C3661900\|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796,O	7	94052391	94052391	7:g.94052391C>T	-
NM_000089.4(COL1A2):c.2527G>A (p.Ala843Thr)	1278	COL1A2	Uncertain significance	112697991	RCV002232863\|RCV002291686;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:C3661900	7	94052392	94052392	NC_000007.13:g.94052392G>A	-	C0268335 130000 Ehlers-Danlos syndrome, classic type;
NM_000089.4(COL1A2):c.2531G>C (p.Gly844Ala)	1278	COL1A2	Likely pathogenic	928361235	RCV000414112\|RCV002230748;	N	MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94052396	94052396	NC_000007.13:g.94052396G>C	ClinGen:CA16042607	CN517202 not provided;
NM_000089.4(COL1A2):c.2539G>A (p.Gly847Ser)	1278	COL1A2	Pathogenic	-1	RCV003084870;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94052404	94052404	NC_000007.13:g.94052404G>A	-
NM_000089.4(COL1A2):c.2550A>T (p.Gly850=)	1278	COL1A2	Uncertain significance	-1	RCV002628785;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94052415	94052415		-
NM_000089.4(COL1A2):c.2550A>G (p.Gly850=)	1278	COL1A2	Uncertain significance	-1	RCV002621548;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94052415	94052415		-
NM_000089.4(COL1A2):c.2554G>T (p.Ala852Ser)	1278	COL1A2	Uncertain significance	-1	RCV003075066;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94052419	94052419	NC_000007.13:g.94052419G>T	-
NM_000089.4(COL1A2):c.2563G>A (p.Ala855Thr)	1278	COL1A2	Benign	541473356	RCV000303250\|RCV000357996\|RCV001573359\|RCV002058686;	N	MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MONDO:MONDO:0040501,MedGen:CN293783,OMIM:617821\|MedGen:C3661900\|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796,O	7	94052428	94052428	NC_000007.13:g.94052428G>A	ClinGen:CA4347477	C0268345 130060 Ehlers-Danlos syndrome, procollagen proteinase deficient;
NM_000089.4(COL1A2):c.2565+1G>A	1278	COL1A2	Pathogenic	72658198	RCV002231014;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94052431	94052431	7:g.94052431G>A	ClinGen:CA162938093	C0268335 130000 Ehlers-Danlos syndrome, classic type;
NM_000089.4(COL1A2):c.2565+3_2565+6del	1278	COL1A2	Pathogenic	1584328061	RCV002233827;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94052431	94052434	7:g.94052431_94052434del	-
NM_000089.4(COL1A2):c.2565+1G>C	1278	COL1A2	Pathogenic	72658198	RCV002240406;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94052431	94052431	7:g.94052431G>C	-
NM_000089.4(COL1A2):c.2565+2T>A	1278	COL1A2	Pathogenic	2115941689	RCV001956522;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94052432	94052432	94052432	-
NM_000089.4(COL1A2):c.2565+7G>C	1278	COL1A2	Likely benign	368445054	RCV002235635;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94052437	94052437	7:g.94052437G>C	-
NM_000089.4(COL1A2):c.2565+7G>A	1278	COL1A2	Likely benign	368445054	RCV002240272;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94052437	94052437	94052437	-
NM_000089.4(COL1A2):c.2565+15A>G	1278	COL1A2	Likely benign	-1	RCV002922720;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94052445	94052445	NC_000007.13:g.94052445A>G	-
NM_000089.4(COL1A2):c.2566-19G>A	1278	COL1A2	Likely benign	754764745	RCV002166426;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94053629	94053629	94053629	-
NM_000089.4(COL1A2):c.2566-10dup	1278	COL1A2	Likely benign	-1	RCV003092955;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94053637	94053638	NC_000007.13:g.94053638dup	-
NM_000089.4(COL1A2):c.2566-9T>C	1278	COL1A2	Likely benign	-1	RCV002720354;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94053639	94053639	NC_000007.13:g.94053639T>C	-
NM_000089.4(COL1A2):c.2566-6A>G	1278	COL1A2	Conflicting interpretations of pathogenicity	141088934	RCV000263221\|RCV000299556\|RCV000680489\|RCV001697767\|RCV002229989\|RCV002278616;	N	MONDO:MONDO:0040501,MedGen:CN293783,OMIM:617821\|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MONDO:MONDO:0003900,MedGen:C0009782\|MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666;	7	94053642	94053642	NC_000007.13:g.94053642A>G	ClinGen:CA4347500	C0009782 Connective tissue disorder;
NM_000089.4(COL1A2):c.2569C>T (p.Pro857Ser)	1278	COL1A2	Uncertain significance	150179964	RCV000259604\|RCV000354454\|RCV001568227\|RCV002429327\|RCV002524536;	N	MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MONDO:MONDO:0040501,MedGen:CN293783,OMIM:617821\|MedGen:CN517202\|MedGen:CN230736\|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200,O	7	94053651	94053651	NC_000007.13:g.94053651C>T	ClinGen:CA4347502	C0268345 130060 Ehlers-Danlos syndrome, procollagen proteinase deficient;
NM_000089.4(COL1A2):c.2569C>A (p.Pro857Thr)	1278	COL1A2	Benign/Likely benign	150179964	RCV001159810\|RCV001159811\|RCV002225801\|RCV002429781\|RCV002559531;	N	MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MONDO:MONDO:0040501,MedGen:CN293783,OMIM:617821\|MedGen:CN517202\|MedGen:CN230736\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,	7	94053651	94053651	7:g.94053651C>A	-
NM_000089.4(COL1A2):c.2576G>A (p.Gly859Asp)	1278	COL1A2	Pathogenic	-1	RCV003079083;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94053658	94053658	NC_000007.13:g.94053658G>A	-
NM_000089.4(COL1A2):c.2596C>G (p.Leu866Val)	1278	COL1A2	Uncertain significance	538945650	RCV002233831;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94053678	94053678	7:g.94053678C>G	-
NM_000089.4(COL1A2):c.2603G>C (p.Gly868Ala)	1278	COL1A2	Pathogenic	2115946426	RCV002242879;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94053685	94053685	94053685	-
NM_000089.4(COL1A2):c.2622T>A (p.Gly874=)	1278	COL1A2	Likely benign	769128071	RCV002235678\|RCV002427316;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN230736	7	94053704	94053704	7:g.94053704T>A	-
NM_000089.4(COL1A2):c.2622T>C (p.Gly874=)	1278	COL1A2	Likely benign	769128071	RCV001091394\|RCV002557954;	N	MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94053704	94053704	7:g.94053704T>C	-
NM_000089.4(COL1A2):c.2625C>G (p.Leu875=)	1278	COL1A2	Likely benign	1300787252	RCV002243091\|RCV002432163;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN230736	7	94053707	94053707	94053707	-
NM_000089.4(COL1A2):c.2633C>T (p.Ser878Leu)	1278	COL1A2	Conflicting interpretations of pathogenicity	773819922	RCV000788762\|RCV002535790;	N	MedGen:CN517202\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94053715	94053715	7:g.94053715C>T	-
NM_000089.4(COL1A2):c.2634G>A (p.Ser878=)	1278	COL1A2	Likely benign	762339011	RCV002065532;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94053716	94053716	7:g.94053716G>A	-
NM_000089.4(COL1A2):c.2642A>C (p.Glu881Ala)	1278	COL1A2	Uncertain significance	751201659	RCV000424402\|RCV002522427;	N	MedGen:C3661900\|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94053724	94053724	7:g.94053724A>C	ClinGen:CA4347514	CN169374 not specified;
NM_000089.4(COL1A2):c.2644C>T (p.Arg882Cys)	1278	COL1A2	Uncertain significance	1204085246	RCV001955202;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94053726	94053726	94053726	-
NM_000089.4(COL1A2):c.2652A>G (p.Leu884=)	1278	COL1A2	Likely benign	767163464	RCV002077911;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94053734	94053734	94053734	-
NM_000089.4(COL1A2):c.2663C>G (p.Ala888Gly)	1278	COL1A2	Uncertain significance	752453618	RCV002232968;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94053745	94053745	NC_000007.13:g.94053745C>G	-	C0268335 130000 Ehlers-Danlos syndrome, classic type;
NM_000089.4(COL1A2):c.2673G>A (p.Val891=)	1278	COL1A2	Uncertain significance	1114167364	RCV000490639\|RCV001856923;	N	MONDO:MONDO:0008147,MedGen:C0268358,OMIM:166210, Orphanet:216804\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94053755	94053755	NC_000007.13:g.94053755G>A	ClinGen:CA456489784	C0268360 166210 Osteogenesis imperfecta, recessive perinatal lethal;
NM_000089.4(COL1A2):c.2673+1G>T	1278	COL1A2	Pathogenic	-1	RCV002289306;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94053756	94053756	94053756	-
NM_000089.4(COL1A2):c.2673+6T>A	1278	COL1A2	Uncertain significance	-1	RCV002636595;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94053761	94053761	NC_000007.13:g.94053761T>A	-
NM_000089.4(COL1A2):c.2673+7G>T	1278	COL1A2	Likely benign	-1	RCV002628574;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94053762	94053762	NC_000007.13:g.94053762G>T	-
NM_000089.4(COL1A2):c.2673+8C>T	1278	COL1A2	Likely benign	760346992	RCV002240723;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94053763	94053763	94053763	-
NM_000089.4(COL1A2):c.2673+9T>C	1278	COL1A2	Likely benign	2115946928	RCV002243112;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94053764	94053764	94053764	-
NM_000089.4(COL1A2):c.2673+10T>A	1278	COL1A2	Likely benign	747098214	RCV002231235;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94053765	94053765	NC_000007.13:g.94053765T>A	ClinGen:CA4347523	C0268335 130000 Ehlers-Danlos syndrome, classic type;
NM_000089.4(COL1A2):c.2673+20C>T	1278	COL1A2	Likely benign	2115947001	RCV002073768;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94053775	94053775	94053775	-
NM_000089.4(COL1A2):c.2674-6G>C	1278	COL1A2	Likely benign	771442891	RCV002243120;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94054423	94054423	94054423	-
NM_000089.4(COL1A2):c.2674-3T>G	1278	COL1A2	Pathogenic	72659303	RCV001036610;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0007522,MedGen:C4225429, Orphanet:287	7	94054426	94054426	7:g.94054426T>G	-
NM_000089.4(COL1A2):c.2675G>A (p.Gly892Asp)	1278	COL1A2	Pathogenic	72659304	RCV001958727;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94054430	94054430	94054430	-
NM_000089.4(COL1A2):c.2687C>T (p.Pro896Leu)	1278	COL1A2	Conflicting interpretations of pathogenicity	202068380	RCV001159812\|RCV001159813\|RCV001575264\|RCV002070973\|RCV002429782;	N	MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MONDO:MONDO:0040501,MedGen:CN293783,OMIM:617821\|MedGen:CN517202\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,	7	94054442	94054442	7:g.94054442C>T	-
NM_000089.4(COL1A2):c.2696T>C (p.Ile899Thr)	1278	COL1A2	Uncertain significance	1245765830	RCV000522211\|RCV001853683\|RCV002438260;	N	MedGen:CN517202\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000\|MedGen:CN230736	7	94054451	94054451	7:g.94054451T>C	ClinGen:CA368224434	CN169374 not specified;
NM_000089.4(COL1A2):c.2700C>T (p.Ala900=)	1278	COL1A2	Benign/Likely benign	141688356	RCV000029597\|RCV000427067\|RCV000631544\|RCV001811202\|RCV002426521;	N	MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MedGen:CN169374\|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:C3661900\|MedGen:CN230736	7	94054455	94054455	7:g.94054455C>T	ClinGen:CA260354	C0268335 130000 Ehlers-Danlos syndrome, classic type;
NM_000089.4(COL1A2):c.2701G>A (p.Gly901Ser)	1278	COL1A2	Pathogenic/Likely pathogenic	72659306	RCV001843974\|RCV002276905\|RCV002543291;	N	MedGen:C3661900\|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000, Orphanet:98249\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94054456	94054456	94054456	-
NM_000089.4(COL1A2):c.2713G>T (p.Ala905Ser)	1278	COL1A2	Uncertain significance	1344095248	RCV001194119\|RCV002231236;	N	MedGen:CN169374\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94054468	94054468	7:g.94054468G>T	ClinGen:CA368224464	C0268335 130000 Ehlers-Danlos syndrome, classic type;
NM_000089.4(COL1A2):c.2716C>T (p.Arg906Cys)	1278	COL1A2	Uncertain significance	-1	RCV002431226\|RCV003102137;	N	MedGen:CN230736\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94054471	94054471	94054471	-
NM_000089.4(COL1A2):c.2717G>A (p.Arg906His)	1278	COL1A2	Uncertain significance	147063981	RCV000791074\|RCV001580519\|RCV002232467;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94054472	94054472	7:g.94054472G>A	ClinGen:CA4347542,ClinVar:425652	C0268335 130000 Ehlers-Danlos syndrome, classic type;
NM_000089.4(COL1A2):c.2717G>C (p.Arg906Pro)	1278	COL1A2	Uncertain significance	147063981	RCV002044035;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94054472	94054472	94054472	-
NM_000089.4(COL1A2):c.2719G>A (p.Gly907Ser)	1278	COL1A2	Pathogenic	1554398251	RCV002231237;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94054474	94054474	7:g.94054474G>A	ClinGen:CA368224473	C0268335 130000 Ehlers-Danlos syndrome, classic type;
NM_000089.4(COL1A2):c.2727T>A (p.Pro909=)	1278	COL1A2	Likely benign	2115949635	RCV001985658;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94054482	94054482	94054482	-
NM_000089.4(COL1A2):c.2732C>G (p.Ala911Gly)	1278	COL1A2	Uncertain significance	374901613	RCV001966836;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94054487	94054487	94054487	-
NM_000089.4(COL1A2):c.2738G>A (p.Gly913Asp)	1278	COL1A2	Likely pathogenic	-1	RCV002469938\|RCV002571441\|RCV003234205;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000\|MedGen:CN517202	7	94054493	94054493	NC_000007.13:g.94054493G>A	-
NM_000089.4(COL1A2):c.2746G>A (p.Gly916Arg)	1278	COL1A2	Pathogenic	72659308	RCV002241076;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94054501	94054501	7:g.94054501G>A	-
NM_000089.4(COL1A2):c.2754C>T (p.Asn918=)	1278	COL1A2	Likely benign	375719762	RCV000543162\|RCV002231238\|RCV002438297;	N	MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000\|MedGen:CN230736	7	94054509	94054509	NC_000007.13:g.94054509C>T	ClinGen:CA4347546	C0268335 130000 Ehlers-Danlos syndrome, classic type;
NM_000089.4(COL1A2):c.2755G>A (p.Gly919Ser)	1278	COL1A2	Pathogenic/Likely pathogenic	749621872	RCV002242882\|RCV002307738\|RCV002438886\|RCV002508960;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:C3661900\|MedGen:CN230736\|MONDO:MONDO:0009159,MedGen:C4303789,OMIM:225320, Orphanet:230851; MONDO:MONDO:0007525,MedGen:C4551	7	94054510	94054510	94054510	-
NM_000089.4(COL1A2):c.2755G>T (p.Gly919Cys)	1278	COL1A2	Pathogenic	749621872	RCV001972387;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94054510	94054510	94054510	-
NM_000089.4(COL1A2):c.2756G>A (p.Gly919Asp)	1278	COL1A2	Pathogenic	1554398261	RCV002231239;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94054511	94054511	7:g.94054511G>A	ClinGen:CA368224545	C0268335 130000 Ehlers-Danlos syndrome, classic type;
NM_000089.4(COL1A2):c.2758G>T (p.Ala920Ser)	1278	COL1A2	Uncertain significance	-1	RCV003014595;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94054513	94054513	NC_000007.13:g.94054513G>T	-
NM_000089.4(COL1A2):c.2775T>A (p.Gly925=)	1278	COL1A2	Likely benign	-1	RCV002957884;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94054530	94054530		-
NM_000089.4(COL1A2):c.2777G>A (p.Arg926His)	1278	COL1A2	Uncertain significance	200331961	RCV001983960;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94054532	94054532	94054532	-
NM_000089.4(COL1A2):c.2781+10A>G	1278	COL1A2	Likely benign	760431398	RCV000604917\|RCV002529477;	N	MedGen:CN169374\|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94054546	94054546	7:g.94054546A>G	ClinGen:CA4347553	CN169374 not specified;
NM_000089.4(COL1A2):c.2782-20T>C	1278	COL1A2	Likely benign	369687449	RCV002156424;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94054902	94054902	94054902	-
NM_000089.4(COL1A2):c.2782-19T>G	1278	COL1A2	Conflicting interpretations of pathogenicity	193922164	RCV000029599\|RCV002513243;	N	MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94054903	94054903	7:g.94054903T>G	ClinGen:CA260358	C0029434 Osteogenesis imperfecta;
NM_000089.4(COL1A2):c.2782-18T>G	1278	COL1A2	Likely benign	-1	RCV002895607;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94054904	94054904	NC_000007.13:g.94054904T>G	-
NM_000089.4(COL1A2):c.2782-8C>G	1278	COL1A2	Likely benign	-1	RCV003043990;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94054914	94054914	NC_000007.13:g.94054914C>G	-
NC_000007.14:g.94425611del	1278	COL1A2	Pathogenic	-1	RCV003018511;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94054921	94054921		-
NM_000089.4(COL1A2):c.2784C>A (p.Gly928=)	1278	COL1A2	Likely benign	-1	RCV003081716;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94054924	94054924		-
NM_000089.4(COL1A2):c.2791G>A (p.Gly931Arg)	1278	COL1A2	Pathogenic	1792256171	RCV002240622;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94054931	94054931	7:g.94054931G>A	-
NM_000089.4(COL1A2):c.2796C>T (p.Asn932=)	1278	COL1A2	Likely benign	757671800	RCV002231015\|RCV002438298;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000\|MedGen:CN230736	7	94054936	94054936	7:g.94054936C>T	ClinGen:CA4347563	C0268335 130000 Ehlers-Danlos syndrome, classic type;
NM_000089.4(COL1A2):c.2799T>C (p.Asp933=)	1278	COL1A2	Conflicting interpretations of pathogenicity	751960243	RCV002235775\|RCV002252272\|RCV002434317;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000\|\|MedGen:CN230736	7	94054939	94054939	7:g.94054939T>C	-
NM_000089.4(COL1A2):c.2802T>C (p.Gly934=)	1278	COL1A2	Likely benign	1379123302	RCV002235992;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94054942	94054942	7:g.94054942T>C	-
NM_000089.4(COL1A2):c.2805C>A (p.Pro935=)	1278	COL1A2	Likely benign	377577833	RCV002239428;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94054945	94054945	94054945	-
NM_000089.4(COL1A2):c.2813G>A (p.Arg938His)	1278	COL1A2	Uncertain significance	746504964	RCV002242260;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94054953	94054953	94054953	-
NM_000089.4(COL1A2):c.2815G>A (p.Asp939Asn)	1278	COL1A2	Uncertain significance	776169837	RCV001171864\|RCV001330775\|RCV002558724;	N	MedGen:C3661900\|MONDO:MONDO:0009804,MedGen:C0268362,OMIM:259420, Orphanet:216812, Orphanet:666\|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94054955	94054955	7:g.94054955G>A	-
NM_000089.4(COL1A2):c.2819G>T (p.Gly940Val)	1278	COL1A2	Pathogenic	1792257312	RCV001269734\|RCV002542860;	N	MedGen:CN517202\|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94054959	94054959	7:g.94054959G>T	-
NM_000089.4(COL1A2):c.2823A>G (p.Gln941=)	1278	COL1A2	Likely benign	1187487060	RCV002235806;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94054963	94054963	7:g.94054963A>G	-
NM_000089.4(COL1A2):c.2826C>T (p.Pro942=)	1278	COL1A2	Conflicting interpretations of pathogenicity	199580542	RCV002279654\|RCV002434311\|RCV000949143;	N	MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MedGen:CN230736\|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94054966	94054966	7:g.94054966C>T	-
NM_000089.4(COL1A2):c.2827G>A (p.Gly943Arg)	1278	COL1A2	Conflicting interpretations of pathogenicity	193922165	RCV000029600\|RCV000622423\|RCV001843944\|RCV001852592\|RCV002433475;	N	MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MeSH:D030342,MedGen:C0950123\|MedGen:CN517202\|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:	7	94054967	94054967	7:g.94054967G>A	ClinGen:CA260359	C0950123 Inborn genetic diseases;
NM_000089.4(COL1A2):c.2830C>T (p.His944Tyr)	1278	COL1A2	Uncertain significance	1476399806	RCV001756962\|RCV001868459;	N	MedGen:C3661900\|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94054970	94054970	94054970	-
NM_000089.4(COL1A2):c.2835+1G>A	1278	COL1A2	Pathogenic	72659310	RCV000490660\|RCV000490726\|RCV002231121\|RCV003155210;	N	MONDO:MONDO:0008148,MedGen:C0268363,OMIM:166220, Orphanet:216820, Orphanet:666\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200,Orp	7	94054976	94054976	NC_000007.13:g.94054976G>A	ClinGen:CA162939788	C0023931 166200 Osteogenesis imperfecta type I;
NM_000089.4(COL1A2):c.2835+1G>T	1278	COL1A2	Pathogenic	-1	RCV003037243;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94054976	94054976	NC_000007.13:g.94054976G>T	-
NM_000089.4(COL1A2):c.2836-20del	1278	COL1A2	Likely benign	-1	RCV002948490;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94055042	94055042	NC_000007.13:g.94055042del	-
NM_000089.4(COL1A2):c.2836-17C>T	1278	COL1A2	Likely benign	370073620	RCV000659379\|RCV002066957;	N	MONDO:MONDO:0003900,MedGen:C0009782\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94055045	94055045	NC_000007.13:g.94055045C>T	-	C0009782 Connective tissue disorder;
NM_000089.4(COL1A2):c.2841G>A (p.Glu947=)	1278	COL1A2	Likely benign	1562907108	RCV002441272\|RCV002177841;	N	MedGen:CN230736\|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94055067	94055067	94055067	-
NM_000089.4(COL1A2):c.2842C>A (p.Arg948Ser)	1278	COL1A2	Uncertain significance	779303344	RCV000418367\|RCV002230065;	N	MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94055068	94055068	7:g.94055068C>A	ClinGen:CA4347580	C0268335 130000 Ehlers-Danlos syndrome, classic type;
NM_000089.4(COL1A2):c.2842C>T (p.Arg948Cys)	1278	COL1A2	Uncertain significance	779303344	RCV002241124\|RCV002480710;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000\|7 conditions	7	94055068	94055068	7:g.94055068C>T	-
NM_000089.4(COL1A2):c.2843G>A (p.Arg948His)	1278	COL1A2	Uncertain significance	201168934	RCV000998847\|RCV002233930\|RCV002438651\|RCV002499039;	N	MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000\|MedGen:CN230736\|7 conditions	7	94055069	94055069	7:g.94055069G>A	ClinGen:CA4347582	C0268335 130000 Ehlers-Danlos syndrome, classic type;
NM_000089.4(COL1A2):c.2844C>T (p.Arg948=)	1278	COL1A2	Likely benign	772555004	RCV002235741;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94055070	94055070	7:g.94055070C>T	-
NM_000089.4(COL1A2):c.2845G>A (p.Gly949Ser)	1278	COL1A2	Pathogenic	72659312	RCV000755949\|RCV002233746;	N	MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94055071	94055071	NC_000007.13:g.94055071G>A	-
NM_000089.4(COL1A2):c.2853T>C (p.Pro951=)	1278	COL1A2	Conflicting interpretations of pathogenicity	148362963	RCV001161210\|RCV001161209\|RCV001712304\|RCV002230076\|RCV002436346;	N	MONDO:MONDO:0040501,MedGen:CN293783,OMIM:617821\|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,	7	94055079	94055079	7:g.94055079T>C	ClinGen:CA4347584	CN169374 not specified;
NM_000089.4(COL1A2):c.2861T>C (p.Ile954Thr)	1278	COL1A2	Benign/Likely benign	538844573	RCV001161211\|RCV001161212\|RCV001696932\|RCV002231017\|RCV002438299\|RCV002497062;	N	MONDO:MONDO:0040501,MedGen:CN293783,OMIM:617821\|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,	7	94055087	94055087	NC_000007.13:g.94055087T>C	ClinGen:CA4347585	C0268335 130000 Ehlers-Danlos syndrome, classic type;
NM_000089.4(COL1A2):c.2865T>C (p.Gly955=)	1278	COL1A2	Likely benign	-1	RCV002437622\|RCV003102800;	N	MedGen:CN230736\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94055091	94055091		-
NM_000089.4(COL1A2):c.2868C>T (p.Pro956=)	1278	COL1A2	Likely benign	141516754	RCV000599926\|RCV002232727;	N	MedGen:CN169374\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94055094	94055094	7:g.94055094C>T	ClinGen:CA4347586	CN169374 not specified;
NM_000089.4(COL1A2):c.2870T>A (p.Val957Asp)	1278	COL1A2	Likely benign	374347304	RCV002240442;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94055096	94055096	94055096	-
NM_000089.4(COL1A2):c.2879C>T (p.Ala960Val)	1278	COL1A2	Uncertain significance	1482901474	RCV001763023\|RCV001882834;	N	MedGen:C3661900\|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94055105	94055105	94055105	-
NM_000089.4(COL1A2):c.2880A>T (p.Ala960=)	1278	COL1A2	Conflicting interpretations of pathogenicity	-1	RCV002437794\|RCV003102822;	N	MedGen:CN230736\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94055106	94055106		-
NM_000089.4(COL1A2):c.2882G>A (p.Gly961Asp)	1278	COL1A2	Pathogenic	-1	RCV002617099;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94055108	94055108	NC_000007.13:g.94055108G>A	-
NM_000089.4(COL1A2):c.2887C>T (p.Pro963Ser)	1278	COL1A2	Uncertain significance	760780128	RCV002242190;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94055113	94055113	94055113	-
NM_000089.4(COL1A2):c.2904C>T (p.Pro968=)	1278	COL1A2	Conflicting interpretations of pathogenicity	142352627	RCV000710782\|RCV001089359\|RCV001161215\|RCV001161216\|RCV002278275\|RCV002436101;	N	MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000\|MONDO:MONDO:0040501,MedGen:CN293783,OMIM:617821\|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200,O	7	94055130	94055130	7:g.94055130C>T	ClinGen:CA4347595	C0268335 130000 Ehlers-Danlos syndrome, classic type;
NM_000089.4(COL1A2):c.2904C>G (p.Pro968=)	1278	COL1A2	Uncertain significance	142352627	RCV000731707\|RCV002535233;	N	MedGen:CN517202\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94055130	94055130	NC_000007.13:g.94055130C>G	-
NM_000089.4(COL1A2):c.2905G>A (p.Val969Met)	1278	COL1A2	Uncertain significance	765448220	RCV001987322\|RCV002264431\|RCV002441076;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000\|MedGen:C3661900\|MedGen:CN230736	7	94055131	94055131	94055131	-
NM_000089.4(COL1A2):c.2913T>C (p.Pro971=)	1278	COL1A2	Likely benign	2115952533	RCV002242981;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94055139	94055139	94055139	-
NM_000089.4(COL1A2):c.2918G>A (p.Gly973Asp)	1278	COL1A2	Pathogenic	-1	RCV003037244;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94055144	94055144	NC_000007.13:g.94055144G>A	-
NM_000089.4(COL1A2):c.2925T>C (p.His975=)	1278	COL1A2	Likely benign	754497392	RCV002098499;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94055151	94055151	94055151	-
NM_000089.4(COL1A2):c.2932C>T (p.Arg978Cys)	1278	COL1A2	Uncertain significance	145633247	RCV000595727\|RCV002532469;	N	MedGen:CN517202\|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94055158	94055158	7:g.94055158C>T	ClinGen:CA4347603	CN169374 not specified;
NM_000089.4(COL1A2):c.2933G>A (p.Arg978His)	1278	COL1A2	Uncertain significance	559605075	RCV001507702\|RCV002241454\|RCV003323826;	N	MedGen:C3661900\|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN169374	7	94055159	94055159	7:g.94055159G>A	-
NM_000089.4(COL1A2):c.2937T>C (p.Gly979=)	1278	COL1A2	Likely benign	1584329988	RCV002235959;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94055163	94055163	7:g.94055163T>C	-
NM_000089.4(COL1A2):c.2939A>G (p.Glu980Gly)	1278	COL1A2	Uncertain significance	2115952651	RCV001902055;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94055165	94055165	94055165	-
NM_000089.4(COL1A2):c.2943+1G>C	1278	COL1A2	Likely pathogenic	1562907190	RCV002232982;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94055170	94055170	7:g.94055170G>C	-	C0268335 130000 Ehlers-Danlos syndrome, classic type;
NM_000089.4(COL1A2):c.2943+12A>T	1278	COL1A2	Likely benign	544894904	RCV002108221;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94055181	94055181	94055181	-
NM_000089.4(COL1A2):c.2943+20T>C	1278	COL1A2	Likely benign	777594155	RCV002080489;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94055189	94055189	94055189	-
NM_000089.4(COL1A2):c.2944-16C>T	1278	COL1A2	Likely benign	373903050	RCV002109985;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94055294	94055294	94055294	-
NM_000089.4(COL1A2):c.2944-4A>T	1278	COL1A2	Conflicting interpretations of pathogenicity	143220941	RCV000396949\|RCV000726182\|RCV002059242;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94055306	94055306	7:g.94055306A>T	ClinGen:CA4347620	CN169374 not specified;
NM_000089.4(COL1A2):c.2944-3C>T	1278	COL1A2	Uncertain significance	1408725826	RCV001947215;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94055307	94055307	94055307	-
NM_000089.4(COL1A2):c.2944G>A (p.Gly982Ser)	1278	COL1A2	Pathogenic	1792269292	RCV002241594;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94055310	94055310	7:g.94055310G>A	-
NM_000089.4(COL1A2):c.2947C>T (p.Pro983Ser)	1278	COL1A2	Uncertain significance	-1	RCV002790333;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94055313	94055313	NC_000007.13:g.94055313C>T	-
NM_000089.4(COL1A2):c.2953G>A (p.Gly985Ser)	1278	COL1A2	Likely pathogenic	2115953343	RCV001969697;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94055319	94055319	94055319	-
NM_000089.4(COL1A2):c.2958del (p.Val987fs)	1278	COL1A2	Pathogenic	1064793527	RCV000483889\|RCV000844939\|RCV002526530;	N	MedGen:CN517202\|\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94055324	94055324	NC_000007.13:g.94055324del	ClinGen:CA16618577	CN517202 not provided;
NM_000089.4(COL1A2):c.2959G>A (p.Val987Ile)	1278	COL1A2	Uncertain significance	752207083	RCV002241610\|RCV002473237\|RCV002436921;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:C3661900\|MedGen:CN230736	7	94055325	94055325	7:g.94055325G>A	-
NM_000089.4(COL1A2):c.2965_2973dup (p.Pro989_Gly991dup)	1278	COL1A2	Pathogenic/Likely pathogenic	1554398396	RCV000622312\|RCV001868144;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94055326	94055327	7:g.94055326_94055327insTGGTCCTGC	ClinGen:CA658796974	C0950123 Inborn genetic diseases;
NM_000089.4(COL1A2):c.2960T>C (p.Val987Ala)	1278	COL1A2	Uncertain significance	1584330105	RCV002235436;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94055326	94055326	7:g.94055326T>C	-
NM_000089.4(COL1A2):c.2961T>G (p.Val987=)	1278	COL1A2	Likely benign	1584330108	RCV002235682;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94055327	94055327	7:g.94055327T>G	-
NM_000089.4(COL1A2):c.2967T>C (p.Pro989=)	1278	COL1A2	Benign/Likely benign	201760437	RCV000882556\|RCV002434174;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN230736	7	94055333	94055333	7:g.94055333T>C	-
NM_000089.4(COL1A2):c.2968G>T (p.Ala990Ser)	1278	COL1A2	Uncertain significance	367848162	RCV001552208\|RCV002233384;	N	MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94055334	94055334	NC_000007.13:g.94055334G>T	-	C0268335 130000 Ehlers-Danlos syndrome, classic type;
NM_000089.4(COL1A2):c.2969C>A (p.Ala990Asp)	1278	COL1A2	Uncertain significance	1014550811	RCV001289264\|RCV002240397;	N	MedGen:C3661900\|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94055335	94055335	7:g.94055335C>A	-
NM_000089.4(COL1A2):c.2977G>C (p.Val993Leu)	1278	COL1A2	Uncertain significance	1792270576	RCV002242382;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94055343	94055343	94055343	-
NM_000089.4(COL1A2):c.2985A>G (p.Pro995=)	1278	COL1A2	Likely benign	-1	RCV002898976;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94055351	94055351		-
NM_000089.4(COL1A2):c.2993C>T (p.Pro998Leu)	1278	COL1A2	Uncertain significance	1204582322	RCV001751697\|RCV002242688;	N	MedGen:C3661900\|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94055359	94055359	94055359	-
NM_000089.4(COL1A2):c.2997+6T>A	1278	COL1A2	Uncertain significance	1584330154	RCV002234299;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94055369	94055369	7:g.94055369T>A	-
NM_000089.4(COL1A2):c.2997+11G>C	1278	COL1A2	Likely benign	-1	RCV002918062;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94055374	94055374	NC_000007.13:g.94055374G>C	-
NM_000089.4(COL1A2):c.2998-19T>A	1278	COL1A2	Likely benign	768118794	RCV002072765;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94055716	94055716	94055716	-
NM_000089.4(COL1A2):c.2998-19T>C	1278	COL1A2	Likely benign	-1	RCV002949012;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94055716	94055716	NC_000007.13:g.94055716T>C	-
NM_000089.4(COL1A2):c.2998-12G>A	1278	COL1A2	Likely benign	-1	RCV002591388;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94055723	94055723	NC_000007.13:g.94055723G>A	-
NM_000089.4(COL1A2):c.2998-4A>G	1278	COL1A2	Likely benign	1246541197	RCV002184703;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94055731	94055731	94055731	-
NM_000089.4(COL1A2):c.3000C>T (p.Gly1000=)	1278	COL1A2	Likely benign	1554398439	RCV000607385\|RCV002063073\|RCV003160082;	N	MedGen:CN169374\|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN230736	7	94055737	94055737	7:g.94055737C>T	ClinGen:CA456490311	CN169374 not specified;
NM_000089.4(COL1A2):c.3013C>T (p.Arg1005Cys)	1278	COL1A2	Uncertain significance	-1	RCV002611732;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94055750	94055750	NC_000007.13:g.94055750C>T	-
NM_000089.4(COL1A2):c.3014G>A (p.Arg1005His)	1278	COL1A2	Uncertain significance	200357942	RCV000333439\|RCV000387802\|RCV001764330\|RCV002229913\|RCV003168563;	N	MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MONDO:MONDO:0040501,MedGen:CN293783,OMIM:617821\|MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,	7	94055751	94055751	NC_000007.13:g.94055751G>A	ClinGen:CA4347646	C0268345 130060 Ehlers-Danlos syndrome, procollagen proteinase deficient;
NM_000089.4(COL1A2):c.3018C>T (p.Gly1006=)	1278	COL1A2	Benign/Likely benign	62001059	RCV000029601\|RCV000274679\|RCV000559977\|RCV000615887\|RCV002276579\|RCV002433476;	N	MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MONDO:MONDO:0040501,MedGen:CN293783,OMIM:617821\|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedG	7	94055755	94055755	7:g.94055755C>T	ClinGen:CA260362	C0268335 130000 Ehlers-Danlos syndrome, classic type;
NM_000089.4(COL1A2):c.3019G>A (p.Asp1007Asn)	1278	COL1A2	Uncertain significance	779934676	RCV001772957\|RCV001868629\|RCV003339738;	N	MedGen:C3661900\|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MONDO:MONDO:0008147,MedGen:C0268358,OMIM:166210, Orphanet:216804	7	94055756	94055756	94055756	-
NM_000089.4(COL1A2):c.3026G>C (p.Gly1009Ala)	1278	COL1A2	Likely pathogenic	-1	RCV003052286;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94055763	94055763	NC_000007.13:g.94055763G>C	-
NM_000089.4(COL1A2):c.3033C>T (p.Pro1011=)	1278	COL1A2	Likely benign	780036812	RCV002097410\|RCV002434475;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000\|MedGen:CN230736	7	94055770	94055770	94055770	-
NM_000089.4(COL1A2):c.3047C>A (p.Pro1016His)	1278	COL1A2	Conflicting interpretations of pathogenicity	377278762	RCV000723559\|RCV000764736\|RCV001162767\|RCV001162768\|RCV002229738\|RCV002278258\|RCV002446511;	N	MedGen:C3661900\|6 conditions\|MONDO:MONDO:0040501,MedGen:CN293783,OMIM:617821\|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,Med	7	94055784	94055784	7:g.94055784C>A	ClinGen:CA4347649	C0268335 130000 Ehlers-Danlos syndrome, classic type;
NM_000089.4(COL1A2):c.3077A>G (p.Asn1026Ser)	1278	COL1A2	Uncertain significance	369457688	RCV002014288;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94055814	94055814	94055814	-
NM_000089.4(COL1A2):c.3090T>A (p.Gly1030=)	1278	COL1A2	Uncertain significance	-1	RCV003040307;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94055827	94055827		-
NM_000089.4(COL1A2):c.3102C>T (p.Ile1034=)	1278	COL1A2	Likely benign	768455635	RCV002233934\|RCV002325209;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000\|MedGen:CN230736	7	94055839	94055839	7:g.94055839C>T	ClinGen:CA162940400	C0268335 130000 Ehlers-Danlos syndrome, classic type;
NM_000089.4(COL1A2):c.3105+16C>T	1278	COL1A2	Likely benign	-1	RCV002632350;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94055858	94055858	NC_000007.13:g.94055858C>T	-
NM_000089.4(COL1A2):c.3106-19T>G	1278	COL1A2	Likely benign	779002473	RCV002136329;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94056301	94056301	94056301	-
NM_000089.4(COL1A2):c.3106-16T>C	1278	COL1A2	Likely benign	-1	RCV002866081;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94056304	94056304	NC_000007.13:g.94056304T>C	-
NM_000089.4(COL1A2):c.3106-5T>C	1278	COL1A2	Likely benign	374164023	RCV002235685;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94056315	94056315	7:g.94056315T>C	-
NM_000089.4(COL1A2):c.3106G>T (p.Gly1036Cys)	1278	COL1A2	Likely pathogenic	72659325	RCV002233636;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94056320	94056320	NC_000007.13:g.94056320G>T	-	C0268335 130000 Ehlers-Danlos syndrome, classic type;
NM_000089.4(COL1A2):c.3108T>C (p.Gly1036=)	1278	COL1A2	Likely benign	768992682	RCV000841726\|RCV002234383;	N	MedGen:C3661900\|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94056322	94056322	7:g.94056322T>C	-
NM_000089.4(COL1A2):c.3114T>C (p.His1038=)	1278	COL1A2	Likely benign	974267627	RCV001722556\|RCV001860259\|RCV002325142;	N	MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000\|MedGen:CN230736	7	94056328	94056328	7:g.94056328T>C	ClinGen:CA162940637	CN169374 not specified;
NM_000089.4(COL1A2):c.3124G>A (p.Gly1042Ser)	1278	COL1A2	Pathogenic	72659327	RCV002241257;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94056338	94056338	7:g.94056338G>A	-
NM_000089.4(COL1A2):c.3127G>A (p.Ala1043Thr)	1278	COL1A2	Likely pathogenic	-1	RCV002982412;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94056341	94056341	NC_000007.13:g.94056341G>A	-
NM_000089.4(COL1A2):c.3135C>T (p.Gly1045=)	1278	COL1A2	Benign	1800248	RCV000243492\|RCV000290031\|RCV000384402\|RCV001513947\|RCV001812669\|RCV002321923;	N	MedGen:CN169374\|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MONDO:MONDO:0040501,MedGen:CN293783,OMIM:617821\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,	7	94056349	94056349	7:g.94056349C>T	ClinGen:CA4347679	C0268345 130060 Ehlers-Danlos syndrome, procollagen proteinase deficient;
NM_000089.4(COL1A2):c.3135C>A (p.Gly1045=)	1278	COL1A2	Benign/Likely benign	1800248	RCV000945606\|RCV003279169\|RCV002548231;	N	MedGen:CN517202\|MedGen:CN230736\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94056349	94056349	7:g.94056349C>A	-
NM_000089.4(COL1A2):c.3139G>A (p.Val1047Met)	1278	COL1A2	Benign/Likely benign	35820023	RCV000321030\|RCV001527678\|RCV002229743\|RCV002321951;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000\|MedGen:CN230736	7	94056353	94056353	7:g.94056353G>A	ClinGen:CA4347683	CN169374 not specified;
NM_000089.4(COL1A2):c.3140T>G (p.Val1047Gly)	1278	COL1A2	Uncertain significance	1033662953	RCV001773168\|RCV001868638;	N	MedGen:C3661900\|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94056354	94056354	94056354	-
NM_000089.4(COL1A2):c.3142G>A (p.Gly1048Ser)	1278	COL1A2	Likely pathogenic	-1	RCV002472346;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94056356	94056356	NC_000007.13:g.94056356G>A	-
NM_000089.4(COL1A2):c.3143G>A (p.Gly1048Asp)	1278	COL1A2	Pathogenic	-1	RCV003027432;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94056357	94056357	NC_000007.13:g.94056357G>A	-
NM_000089.4(COL1A2):c.3144T>C (p.Gly1048=)	1278	COL1A2	Benign/Likely benign	369434464	RCV001164837\|RCV001164836\|RCV002240739\|RCV002320384;	N	MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MONDO:MONDO:0040501,MedGen:CN293783,OMIM:617821\|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedG	7	94056358	94056358	7:g.94056358T>C	-
NM_000089.4(COL1A2):c.3152G>C (p.Gly1051Ala)	1278	COL1A2	Likely pathogenic	2115957255	RCV001973639;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94056366	94056366	94056366	-
NM_000089.4(COL1A2):c.3159+1G>A	1278	COL1A2	Likely pathogenic	-1	RCV002510599\|RCV003101515;	N	MONDO:MONDO:0008147,MedGen:C0268358,OMIM:166210, Orphanet:216804\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94056374	94056374	NC_000007.13:g.94056374G>A	-
NM_000089.4(COL1A2):c.3159+3A>C	1278	COL1A2	Uncertain significance	2115957293	RCV001965724;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94056376	94056376	94056376	-
NM_000089.4(COL1A2):c.3159+6T>A	1278	COL1A2	Uncertain significance	2115957317	RCV002047375;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94056379	94056379	94056379	-
NM_000089.4(COL1A2):c.3159+8G>A	1278	COL1A2	Likely benign	-1	RCV003062616;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94056381	94056381	NC_000007.13:g.94056381G>A	-
NM_000089.4(COL1A2):c.3160-19T>C	1278	COL1A2	Likely benign	-1	RCV002928306;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94056481	94056481	NC_000007.13:g.94056481T>C	-
NM_000089.4(COL1A2):c.3163C>T (p.Pro1055Ser)	1278	COL1A2	Uncertain significance	-1	RCV002297810;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94056503	94056503	94056503	-
NM_000089.4(COL1A2):c.3170G>A (p.Gly1057Asp)	1278	COL1A2	Pathogenic	2115957747	RCV002242779;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94056510	94056510	94056510	-
NM_000089.4(COL1A2):c.3176C>T (p.Ser1059Phe)	1278	COL1A2	Uncertain significance	-1	RCV002625272;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94056516	94056516	NC_000007.13:g.94056516C>T	-
NM_000089.4(COL1A2):c.3186T>G (p.Ala1062=)	1278	COL1A2	Likely benign	930277720	RCV001551266\|RCV002072045\|RCV002324136;	N	MedGen:C3661900\|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN230736	7	94056526	94056526	94056526	-
NM_000089.4(COL1A2):c.3200G>A (p.Arg1067His)	1278	COL1A2	Likely benign	530026906	RCV002240345\|RCV002320305;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN230736	7	94056540	94056540	7:g.94056540G>A	-
NM_000089.4(COL1A2):c.3207A>G (p.Gly1069=)	1278	COL1A2	Likely benign	2115957872	RCV002195303;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94056547	94056547	94056547	-
NM_000089.4(COL1A2):c.3209A>C (p.His1070Pro)	1278	COL1A2	Conflicting interpretations of pathogenicity	767399660	RCV001560740\|RCV002231240;	N	MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94056549	94056549	NC_000007.13:g.94056549A>C	ClinGen:CA4347701	C0268335 130000 Ehlers-Danlos syndrome, classic type;
NM_000089.4(COL1A2):c.3210T>A (p.His1070Gln)	1278	COL1A2	Uncertain significance	2115957891	RCV001866515;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94056550	94056550	94056550	-
NM_000089.4(COL1A2):c.3211C>A (p.Pro1071Thr)	1278	COL1A2	Uncertain significance	886062518	RCV000344987\|RCV000380859\|RCV002229914;	N	MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MONDO:MONDO:0040501,MedGen:CN293783,OMIM:617821\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94056551	94056551	NC_000007.13:g.94056551C>A	ClinGen:CA10624410	C0268345 130060 Ehlers-Danlos syndrome, procollagen proteinase deficient;
NM_000089.4(COL1A2):c.3225A>G (p.Gly1075=)	1278	COL1A2	Likely benign	756009155	RCV002113987\|RCV002325659;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN230736	7	94056565	94056565	94056565	-
NM_000089.4(COL1A2):c.3226C>T (p.Pro1076Ser)	1278	COL1A2	Uncertain significance	763974489	RCV001249740\|RCV001879761\|RCV003332315;	N	MONDO:MONDO:0007525,MedGen:C4551623,OMIM:130060, Orphanet:1899, Orphanet:99875, Orphanet:99876\|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN517202	7	94056566	94056566	7:g.94056566C>T	-
NM_000089.4(COL1A2):c.3233G>A (p.Gly1078Asp)	1278	COL1A2	Pathogenic	72659332	RCV001779169\|RCV001882531;	N	Human Phenotype Ontology:HP:0000703,MONDO:MONDO:0018849,MedGen:C0011436, Orphanet:49042\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94056573	94056573	94056573	-
NM_000089.4(COL1A2):c.3238C>T (p.Arg1080Ter)	1278	COL1A2	Pathogenic	780395429	RCV002242803;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94056578	94056578	94056578	-
NM_000089.4(COL1A2):c.3239G>A (p.Arg1080Gln)	1278	COL1A2	Uncertain significance	751898427	RCV002240373\|RCV003328648;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:C3661900	7	94056579	94056579	7:g.94056579G>A	-
NM_000089.4(COL1A2):c.3250G>T (p.Gly1084Cys)	1278	COL1A2	Pathogenic/Likely pathogenic	1792298693	RCV002240229\|RCV002298860;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000, Orphanet:98249	7	94056590	94056590	7:g.94056590G>T	-
NM_000089.4(COL1A2):c.3260G>T (p.Gly1087Val)	1278	COL1A2	Likely pathogenic	72659335	RCV002231241;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94056600	94056600	NC_000007.13:g.94056600G>T	ClinGen:CA368225599	C0268335 130000 Ehlers-Danlos syndrome, classic type;
NM_000089.4(COL1A2):c.3261C>T (p.Gly1087=)	1278	COL1A2	Likely benign	142518265	RCV002240277;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94056601	94056601	94056601	-
NM_000089.4(COL1A2):c.3267+5G>C	1278	COL1A2	Uncertain significance	2115958193	RCV002051046;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94056612	94056612	94056612	-
NM_000089.4(COL1A2):c.3268-19C>T	1278	COL1A2	Likely benign	-1	RCV003055445;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94056920	94056920	NC_000007.13:g.94056920C>T	-
NM_000089.4(COL1A2):c.3268-9C>T	1278	COL1A2	Likely benign	763122023	RCV001579559\|RCV002240444;	N	MedGen:C3661900\|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94056930	94056930	94056930	-
NM_000089.4(COL1A2):c.3279_3287dup (p.1091PPG[5])	1278	COL1A2	Uncertain significance	74315103	RCV002241722;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94056941	94056942	94056941	-
NM_000089.4(COL1A2):c.3276del (p.Gly1093fs)	1278	COL1A2	Pathogenic	1173518955	RCV001942831;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94056947	94056947	94056946	-
NM_000089.4(COL1A2):c.3277G>C (p.Gly1093Arg)	1278	COL1A2	Pathogenic	2115959456	RCV001993390;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94056948	94056948	94056948	-
NM_000089.4(COL1A2):c.3282C>T (p.Pro1094=)	1278	COL1A2	Likely benign	753082771	RCV002095960;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94056953	94056953	94056953	-
NM_000089.4(COL1A2):c.3283C>T (p.Pro1095Ser)	1278	COL1A2	Uncertain significance	370608825	RCV001159929\|RCV001159930\|RCV001811677\|RCV002032474\|RCV003380854;	N	MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MONDO:MONDO:0040501,MedGen:CN293783,OMIM:617821\|MedGen:C3661900\|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796,O	7	94056954	94056954	7:g.94056954C>T	-
NM_000089.4(COL1A2):c.3286G>A (p.Gly1096Ser)	1278	COL1A2	Pathogenic	1792308325	RCV001202983;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0007522,MedGen:C4225429, Orphanet:287	7	94056957	94056957	7:g.94056957G>A	-
NM_000089.4(COL1A2):c.3287G>A (p.Gly1096Asp)	1278	COL1A2	Pathogenic	-1	RCV002885938;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94056958	94056958	NC_000007.13:g.94056958G>A	-
NM_000089.4(COL1A2):c.3303A>G (p.Pro1101=)	1278	COL1A2	Likely benign	889862814	RCV000423674\|RCV002525506;	N	MedGen:CN169374\|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94056974	94056974	7:g.94056974A>G	ClinGen:CA16605936	CN169374 not specified;
NM_000089.4(COL1A2):c.3304G>T (p.Gly1102Cys)	1278	COL1A2	Pathogenic	67768540	RCV000490701;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94056975	94056975	NC_000007.13:g.94056975G>T	ClinGen:CA368225687	C0023931 166200 Osteogenesis imperfecta type I;
NM_000089.4(COL1A2):c.3311G>A (p.Ser1104Asn)	1278	COL1A2	Uncertain significance	771438684	RCV002233927;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94056982	94056982	NC_000007.13:g.94056982G>A	ClinGen:CA4347735	C0268335 130000 Ehlers-Danlos syndrome, classic type;
NM_000089.4(COL1A2):c.3313G>A (p.Gly1105Ser)	1278	COL1A2	Conflicting interpretations of pathogenicity	139851311	RCV000286436\|RCV000342187\|RCV000513852\|RCV000432079\|RCV000659381\|RCV002229990\|RCV002278617;	N	MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MONDO:MONDO:0040501,MedGen:CN293783,OMIM:617821\|MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0003900,MedGen:C0009782\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:2167	7	94056984	94056984	NC_000007.13:g.94056984G>A	ClinGen:CA4347736	C0009782 Connective tissue disorder;
NM_000089.4(COL1A2):c.3319G>T (p.Gly1107Cys)	1278	COL1A2	Uncertain significance	745396382	RCV002235430;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94056990	94056990	7:g.94056990G>T	-
NM_000089.4(COL1A2):c.3336C>T (p.Tyr1112=)	1278	COL1A2	Benign/Likely benign	34691365	RCV000029604\|RCV000402770\|RCV000552257\|RCV000605316\|RCV002228064\|RCV002276580\|RCV002321489;	N	MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MONDO:MONDO:0040501,MedGen:CN293783,OMIM:617821\|MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200,O	7	94057007	94057007	7:g.94057007C>T	ClinGen:CA260367	C0268335 130000 Ehlers-Danlos syndrome, classic type;
NM_000089.4(COL1A2):c.3337G>A (p.Asp1113Asn)	1278	COL1A2	Conflicting interpretations of pathogenicity	760490617	RCV002099540\|RCV002324517;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN230736	7	94057008	94057008	94057008	-
NM_000089.4(COL1A2):c.3338A>C (p.Asp1113Ala)	1278	COL1A2	Uncertain significance	1562908093	RCV002233701;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94057009	94057009	NC_000007.13:g.94057009A>C	-	C0268335 130000 Ehlers-Danlos syndrome, classic type;
NM_000089.4(COL1A2):c.3346T>C (p.Phe1116Leu)	1278	COL1A2	Uncertain significance	1368149627	RCV001971315;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94057017	94057017	94057017	-
NM_000089.4(COL1A2):c.3350A>G (p.Tyr1117Cys)	1278	COL1A2	Likely pathogenic	2115959866	RCV001977185;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94057021	94057021	94057021	-
NM_000089.4(COL1A2):c.3355G>C (p.Ala1119Pro)	1278	COL1A2	Conflicting interpretations of pathogenicity	193922168	RCV000029605\|RCV002513244;	N	MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94057026	94057026	7:g.94057026G>C	ClinGen:CA260370	C0029434 Osteogenesis imperfecta;
NM_000089.4(COL1A2):c.3358G>A (p.Asp1120Asn)	1278	COL1A2	Pathogenic	2115959912	RCV001886325;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94057029	94057029	94057029	-
NM_000089.4(COL1A2):c.3359A>G (p.Asp1120Gly)	1278	COL1A2	Pathogenic	2115959926	RCV001932458;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94057030	94057030	94057030	-
NM_000089.4(COL1A2):c.3360C>A (p.Asp1120Glu)	1278	COL1A2	Uncertain significance	-1	RCV003084686;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94057031	94057031	NC_000007.13:g.94057031C>A	-
NM_000089.4(COL1A2):c.3368G>T (p.Arg1123Leu)	1278	COL1A2	Uncertain significance	145541630	RCV001531679\|RCV002234403\|RCV002457995;	N	MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000\|MedGen:CN230736	7	94057039	94057039	NC_000007.13:g.94057039G>T	ClinGen:CA4347744	C0268335 130000 Ehlers-Danlos syndrome, classic type;
NM_000089.4(COL1A2):c.3368G>A (p.Arg1123His)	1278	COL1A2	Uncertain significance	145541630	RCV001664445\|RCV002235464;	N	MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94057039	94057039	7:g.94057039G>A	-
NM_000089.4(COL1A2):c.3369C>T (p.Arg1123=)	1278	COL1A2	Likely benign	1274009584	RCV002065468;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94057040	94057040	7:g.94057040C>T	-
NM_000089.4(COL1A2):c.3403G>T (p.Val1135Phe)	1278	COL1A2	Uncertain significance	-1	RCV003053065;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94057074	94057074	NC_000007.13:g.94057074G>T	-
NM_000089.4(COL1A2):c.3404T>C (p.Val1135Ala)	1278	COL1A2	Uncertain significance	779411376	RCV001930255;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94057075	94057075	94057075	-
NM_000089.4(COL1A2):c.3407A>G (p.Asp1136Gly)	1278	COL1A2	Uncertain significance	745366015	RCV000443040\|RCV002451023\|RCV002526333;	N	MedGen:CN517202\|MedGen:CN230736\|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94057078	94057078	7:g.94057078A>G	ClinGen:CA4347753	CN169374 not specified;
NM_000089.4(COL1A2):c.3407A>T (p.Asp1136Val)	1278	COL1A2	Uncertain significance	745366015	RCV001908307;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94057078	94057078	94057078	-
NM_000089.4(COL1A2):c.3430A>C (p.Asn1144His)	1278	COL1A2	Uncertain significance	374282276	RCV002070242\|RCV002242643\|RCV003448916\|RCV003169895;	N	MedGen:C3661900\|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:C5681014, Orphanet:285014\|MedGen:CN230736	7	94057101	94057101	94057101	-
NM_000089.4(COL1A2):c.3430A>T (p.Asn1144Tyr)	1278	COL1A2	Uncertain significance	374282276	RCV002008798;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94057101	94057101	94057101	-
NM_000089.4(COL1A2):c.3439G>C (p.Glu1147Gln)	1278	COL1A2	Uncertain significance	746701185	RCV002240152;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94057110	94057110	7:g.94057110G>C	-
NM_000089.4(COL1A2):c.3444C>T (p.Thr1148=)	1278	COL1A2	Likely benign	-1	RCV002457145\|RCV003099488;	N	MedGen:CN230736\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94057115	94057115		-
NM_000089.4(COL1A2):c.3453T>G (p.Thr1151=)	1278	COL1A2	Likely benign	-1	RCV002664083;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94057124	94057124		-
NM_000089.4(COL1A2):c.3473A>C (p.Asn1158Thr)	1278	COL1A2	Uncertain significance	1034555044	RCV000494189\|RCV001856958;	N	MedGen:CN517202\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94057144	94057144	7:g.94057144A>C	ClinGen:CA162941259	CN169374 not specified;
NM_000089.4(COL1A2):c.3482G>T (p.Arg1161Leu)	1278	COL1A2	Uncertain significance	542912072	RCV001572230\|RCV001866037;	N	MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94057153	94057153	94057153	-
NM_000089.4(COL1A2):c.3488G>A (p.Cys1163Tyr)	1278	COL1A2	Uncertain significance	1792314999	RCV002241077;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94057159	94057159	7:g.94057159G>A	-
NM_000089.4(COL1A2):c.3491G>A (p.Arg1164His)	1278	COL1A2	Uncertain significance	764327381	RCV001760190\|RCV002241211;	N	MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94057162	94057162	7:g.94057162G>A	-
NM_000089.4(COL1A2):c.3493G>A (p.Asp1165Asn)	1278	COL1A2	Uncertain significance	754149044	RCV001159932\|RCV001159931\|RCV001785791\|RCV002558508;	N	MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MONDO:MONDO:0040501,MedGen:CN293783,OMIM:617821\|MedGen:CN517202\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,	7	94057164	94057164	7:g.94057164G>A	-
NM_000089.4(COL1A2):c.3495C>G (p.Asp1165Glu)	1278	COL1A2	Likely pathogenic	72659340	RCV002235573;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94057166	94057166	7:g.94057166C>G	-
NM_000089.4(COL1A2):c.3513A>G (p.Pro1171=)	1278	COL1A2	Likely benign	936707370	RCV001585866\|RCV002235498\|RCV002454086;	N	MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000\|MedGen:CN230736	7	94057184	94057184	7:g.94057184A>G	-
NM_000089.4(COL1A2):c.3526+4G>A	1278	COL1A2	Uncertain significance	1284156162	RCV002233932;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94057201	94057201	NC_000007.13:g.94057201G>A	ClinGen:CA576324645	C0268335 130000 Ehlers-Danlos syndrome, classic type;
NM_000089.4(COL1A2):c.3526+10G>T	1278	COL1A2	Likely benign	779375338	RCV002236370;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94057207	94057207	94057207	-
NM_000089.4(COL1A2):c.3526+12T>C	1278	COL1A2	Likely benign	-1	RCV002794786;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94057209	94057209	NC_000007.13:g.94057209T>C	-
NM_000089.4(COL1A2):c.3527-4A>T	1278	COL1A2	Conflicting interpretations of pathogenicity	888826541	RCV001171865\|RCV002068054;	N	MedGen:C3661900\|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94057601	94057601	7:g.94057601A>T	-
NM_000089.4(COL1A2):c.3532_3543del (p.Tyr1178_Asp1181del)	1278	COL1A2	Uncertain significance	1554398685	RCV000518211\|RCV002525030;	N	MedGen:CN169374\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94057608	94057619	7:g.94057608_94057619del	ClinGen:CA658657694	CN169374 not specified;
NM_000089.4(COL1A2):c.3532T>C (p.Tyr1178His)	1278	COL1A2	Uncertain significance	750815565	RCV002242417\|RCV002276699\|RCV003145605;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000, Orphanet:98249\|MedGen:C3661900	7	94057610	94057610	94057610	-
NM_000089.4(COL1A2):c.3554G>A (p.Gly1185Glu)	1278	COL1A2	Uncertain significance	766941490	RCV000485717\|RCV000844988\|RCV001851239\|RCV002455932;	N	MedGen:CN517202\|\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000\|MedGen:CN230736	7	94057632	94057632	7:g.94057632G>A	ClinGen:CA4347789	CN169374 not specified;
NM_000089.4(COL1A2):c.3556T>C (p.Cys1186Arg)	1278	COL1A2	Uncertain significance	1421198378	RCV002050468;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94057634	94057634	94057634	-
NM_000089.4(COL1A2):c.3559A>G (p.Thr1187Ala)	1278	COL1A2	Uncertain significance	-1	RCV003115177;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94057637	94057637	NC_000007.13:g.94057637A>G	-
NM_000089.4(COL1A2):c.3566A>G (p.Asp1189Gly)	1278	COL1A2	Uncertain significance	754575611	RCV002234408;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94057644	94057644	NC_000007.13:g.94057644A>G	ClinGen:CA4347791	C0268335 130000 Ehlers-Danlos syndrome, classic type;
NM_000089.4(COL1A2):c.3571A>G (p.Ile1191Val)	1278	COL1A2	Uncertain significance	1792328980	RCV002015878;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94057649	94057649	94057649	-
NM_000089.4(COL1A2):c.3573C>A (p.Ile1191=)	1278	COL1A2	Likely benign	-1	RCV003080664;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94057651	94057651		-
NM_000089.4(COL1A2):c.3583_3597del (p.Cys1195_Thr1199del)	1278	COL1A2	Likely pathogenic	2115962258	RCV001969229;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94057661	94057675	94057660	-
NM_000089.4(COL1A2):c.3583T>C (p.Cys1195Arg)	1278	COL1A2	Pathogenic/Likely pathogenic	2115962248	RCV002010354\|RCV002259408\|RCV002290832;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000\|MONDO:MONDO:0008148,MedGen:C0268363,OMIM:166220, Orphanet:216820, Orphanet:666\|MONDO:MONDO:0030855,MedGen:C5436847,OMIM:619120	7	94057661	94057661	94057661	-
NM_000089.4(COL1A2):c.3583T>A (p.Cys1195Ser)	1278	COL1A2	Pathogenic	-1	RCV002852220;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94057661	94057661	NC_000007.13:g.94057661T>A	-
NM_000089.4(COL1A2):c.3585T>C (p.Cys1195=)	1278	COL1A2	Benign/Likely benign	1800253	RCV000838759\|RCV001521237\|RCV002456054;	N	MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000\|MedGen:CN230736	7	94057663	94057663	NC_000007.13:g.94057663T>C	ClinGen:CA4347793	C0268335 130000 Ehlers-Danlos syndrome, classic type;
NM_000089.4(COL1A2):c.3586G>T (p.Asp1196Tyr)	1278	COL1A2	Uncertain significance	1792329797	RCV001970577;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94057664	94057664	94057664	-
NM_000089.4(COL1A2):c.3600C>T (p.Gly1200=)	1278	COL1A2	Likely benign	777362679	RCV000826974\|RCV002453909\|RCV002536085;	N	MedGen:CN517202\|MedGen:CN230736\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94057678	94057678	7:g.94057678C>T	-
NM_000089.4(COL1A2):c.3601G>A (p.Glu1201Lys)	1278	COL1A2	Uncertain significance	-1	RCV002654952;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94057679	94057679	NC_000007.13:g.94057679G>A	-
NM_000089.4(COL1A2):c.3612C>T (p.Ile1204=)	1278	COL1A2	Likely benign	-1	RCV002452228\|RCV003102409;	N	MedGen:CN230736\|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94057690	94057690		-
NM_000089.4(COL1A2):c.3613C>T (p.Arg1205Trp)	1278	COL1A2	Conflicting interpretations of pathogenicity	150124840	RCV000729778\|RCV002233736\|RCV002458340;	N	MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000\|MedGen:CN230736	7	94057691	94057691	NC_000007.13:g.94057691C>T	-
NM_000089.4(COL1A2):c.3614G>A (p.Arg1205Gln)	1278	COL1A2	Benign/Likely benign	73428220	RCV000338728\|RCV000398137\|RCV000870888\|RCV001697768\|RCV002450931;	N	MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MONDO:MONDO:0040501,MedGen:CN293783,OMIM:617821\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000\|MedG	7	94057692	94057692	NC_000007.13:g.94057692G>A	ClinGen:CA4347800	C0268345 130060 Ehlers-Danlos syndrome, procollagen proteinase deficient;
NM_000089.4(COL1A2):c.3616G>C (p.Ala1206Pro)	1278	COL1A2	Uncertain significance	200492800	RCV002050694;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94057694	94057694	94057694	-
NM_000089.4(COL1A2):c.3621A>G (p.Gln1207=)	1278	COL1A2	Likely benign	2115962565	RCV001975896;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94057699	94057699	94057699	-
NM_000089.4(COL1A2):c.3625G>A (p.Glu1209Lys)	1278	COL1A2	Uncertain significance	267601644	RCV002228138;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94057703	94057703	7:g.94057703G>A	-
NM_000089.4(COL1A2):c.3632T>C (p.Ile1211Thr)	1278	COL1A2	Uncertain significance	201746779	RCV000299122\|RCV000354008\|RCV001591029\|RCV002229915\|RCV003298412;	N	MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MONDO:MONDO:0040501,MedGen:CN293783,OMIM:617821\|MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,	7	94057710	94057710	NC_000007.13:g.94057710T>C	ClinGen:CA4347804	C0268335 130000 Ehlers-Danlos syndrome, classic type;
NM_000089.4(COL1A2):c.3647G>T (p.Trp1216Leu)	1278	COL1A2	Uncertain significance	1023594853	RCV001266014\|RCV002241519\|RCV002260691;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:C3661900	7	94057725	94057725	7:g.94057725G>T	-
NM_000089.4(COL1A2):c.3656G>A (p.Ser1219Asn)	1278	COL1A2	Uncertain significance	1554398702	RCV002231018;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94057734	94057734	NC_000007.13:g.94057734G>A	ClinGen:CA368226449	C0268335 130000 Ehlers-Danlos syndrome, classic type;
NM_000089.4(COL1A2):c.3673C>T (p.His1225Tyr)	1278	COL1A2	Likely benign	535142482	RCV002231019;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94057751	94057751	NC_000007.13:g.94057751C>T	ClinGen:CA4347811	C0268335 130000 Ehlers-Danlos syndrome, classic type;
NM_000089.4(COL1A2):c.3676G>A (p.Val1226Ile)	1278	COL1A2	Uncertain significance	777501717	RCV001733430\|RCV002538720;	N	MedGen:C3661900\|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94057754	94057754	94057754	-
NM_000089.4(COL1A2):c.3691A>G (p.Thr1231Ala)	1278	COL1A2	Uncertain significance	201560619	RCV000434912\|RCV001851102;	N	MedGen:CN517202\|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94057769	94057769	7:g.94057769A>G	ClinGen:CA4347816	CN169374 not specified;
NM_000089.4(COL1A2):c.3706A>G (p.Ser1236Gly)	1278	COL1A2	Uncertain significance	781184808	RCV001922273;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94057784	94057784	94057784	-
NM_000089.4(COL1A2):c.3708C>A (p.Ser1236Arg)	1278	COL1A2	Uncertain significance	1214052566	RCV001910199;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94057786	94057786	94057786	-
NM_000089.4(COL1A2):c.3711+20C>A	1278	COL1A2	Likely benign	555027516	RCV002117459;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94057809	94057809	94057809	-
NM_000089.4(COL1A2):c.3712-13C>T	1278	COL1A2	Benign	74335369	RCV000277439\|RCV000314382\|RCV000426881\|RCV000710785\|RCV002058687;	N	MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MONDO:MONDO:0040501,MedGen:CN293783,OMIM:617821\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200,O	7	94058487	94058487	NC_000007.13:g.94058487C>T	ClinGen:CA4347835	C0268345 130060 Ehlers-Danlos syndrome, procollagen proteinase deficient;
NM_000089.4(COL1A2):c.3712-11A>G	1278	COL1A2	Likely benign	748154668	RCV002176037;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94058489	94058489	94058489	-
NM_000089.4(COL1A2):c.3740C>A (p.Ser1247Tyr)	1278	COL1A2	Conflicting interpretations of pathogenicity	763721360	RCV001587230\|RCV002348703\|RCV002241104;	N	MedGen:C3661900\|MedGen:CN230736\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94058528	94058528	7:g.94058528C>A	-
NM_000089.4(COL1A2):c.3748A>G (p.Met1250Val)	1278	COL1A2	Uncertain significance	1792349508	RCV002240226;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94058536	94058536	7:g.94058536A>G	-
NM_000089.4(COL1A2):c.3754A>G (p.Thr1252Ala)	1278	COL1A2	Conflicting interpretations of pathogenicity	761465504	RCV000274353\|RCV000369007\|RCV001861311;	N	MONDO:MONDO:0040501,MedGen:CN293783,OMIM:617821\|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94058542	94058542	NC_000007.13:g.94058542A>G	ClinGen:CA4347849	C0268345 130060 Ehlers-Danlos syndrome, procollagen proteinase deficient;
NM_000089.4(COL1A2):c.3762T>C (p.Leu1254=)	1278	COL1A2	Likely benign	1584332680	RCV002065948;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94058550	94058550	7:g.94058550T>C	-
NM_000089.4(COL1A2):c.3769A>G (p.Met1257Val)	1278	COL1A2	Uncertain significance	1792350190	RCV002242135;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94058557	94058557	94058557	-
NM_000089.4(COL1A2):c.3772C>T (p.Arg1258Cys)	1278	COL1A2	Uncertain significance	766273613	RCV000991602\|RCV001858737\|RCV003160118;	N	MedGen:CN517202\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000\|MedGen:CN230736	7	94058560	94058560	7:g.94058560C>T	-
NM_000089.4(COL1A2):c.3773G>A (p.Arg1258His)	1278	COL1A2	Uncertain significance	200663095	RCV001938449\|RCV002291786;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000\|MedGen:C3661900	7	94058561	94058561	94058561	-
NM_000089.4(COL1A2):c.3774C>T (p.Arg1258=)	1278	COL1A2	Likely benign	1434722026	RCV002235700;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94058562	94058562	7:g.94058562C>T	-
NM_000089.4(COL1A2):c.3775C>T (p.Leu1259=)	1278	COL1A2	Likely benign	-1	RCV003032406;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94058563	94058563		-
NM_000089.4(COL1A2):c.3777G>T (p.Leu1259=)	1278	COL1A2	Likely benign	1314683467	RCV002235672;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94058565	94058565	7:g.94058565G>T	-
NM_000089.4(COL1A2):c.3783C>T (p.Ala1261=)	1278	COL1A2	Likely benign	201393190	RCV000600083\|RCV002528706;	N	MedGen:CN169374\|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94058571	94058571	7:g.94058571C>T	ClinGen:CA162942120	CN169374 not specified;
NM_000089.4(COL1A2):c.3792C>T (p.Ala1264=)	1278	COL1A2	Conflicting interpretations of pathogenicity	745413783	RCV000615308\|RCV000631540\|RCV001262380\|RCV002232588\|RCV002368056;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0040501,MedGen:CN293783,OMIM:617821\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000\|MedGen:CN230736	7	94058580	94058580	7:g.94058580C>T	ClinGen:CA4347857	C0268335 130000 Ehlers-Danlos syndrome, classic type;
NM_000089.4(COL1A2):c.3815G>C (p.Cys1272Ser)	1278	COL1A2	Uncertain significance	1554398835	RCV002231020;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94058603	94058603	7:g.94058603G>C	ClinGen:CA368226807	C0268335 130000 Ehlers-Danlos syndrome, classic type;
NM_000089.4(COL1A2):c.3815G>T (p.Cys1272Phe)	1278	COL1A2	Pathogenic	1554398835	RCV002241395;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94058603	94058603	7:g.94058603G>T	-
NM_000089.4(COL1A2):c.3832T>C (p.Tyr1278His)	1278	COL1A2	Uncertain significance	-1	RCV003092944;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94058620	94058620	NC_000007.13:g.94058620T>C	-
NM_000089.4(COL1A2):c.3835A>G (p.Met1279Val)	1278	COL1A2	Uncertain significance	775850964	RCV001731899\|RCV002233386;	N	MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94058623	94058623	7:g.94058623A>G	-	C0268335 130000 Ehlers-Danlos syndrome, classic type;
NM_000089.4(COL1A2):c.3836T>C (p.Met1279Thr)	1278	COL1A2	Uncertain significance	-1	RCV002967204;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94058624	94058624	NC_000007.13:g.94058624T>C	-
NM_000089.4(COL1A2):c.3849T>C (p.Thr1283=)	1278	COL1A2	Benign/Likely benign	34038163	RCV000270722\|RCV000325891\|RCV000551690\|RCV000430857\|RCV001810864\|RCV002365425;	N	MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MONDO:MONDO:0040501,MedGen:CN293783,OMIM:617821\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000\|MedG	7	94058637	94058637	NC_000007.13:g.94058637T>C	ClinGen:CA4347866	C0268335 130000 Ehlers-Danlos syndrome, classic type;
NM_000089.4(COL1A2):c.3852C>T (p.Gly1284=)	1278	COL1A2	Uncertain significance	663	RCV001901085;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94058640	94058640	94058640	-
NM_000089.4(COL1A2):c.3852C>A (p.Gly1284=)	1278	COL1A2	Likely benign	663	RCV002212343\|RCV002352804;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000\|MedGen:CN230736	7	94058640	94058640	94058640	-
NM_000089.4(COL1A2):c.3856C>T (p.Leu1286=)	1278	COL1A2	Likely benign	1584332859	RCV002240297;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94058644	94058644	94058644	-
NM_000089.4(COL1A2):c.3858G>A (p.Leu1286=)	1278	COL1A2	Likely benign	-1	RCV002952873;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94058646	94058646		-
NM_000089.4(COL1A2):c.3865G>C (p.Ala1289Pro)	1278	COL1A2	Likely pathogenic	759477389	RCV002034952;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94058653	94058653	94058653	-
NM_000089.4(COL1A2):c.3868_3869dup (p.Ile1291fs)	1278	COL1A2	Likely pathogenic	1792353123	RCV002240207;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94058654	94058655	7:g.94058654_94058655insTG	-
NM_000089.4(COL1A2):c.3870C>T (p.Val1290=)	1278	COL1A2	Conflicting interpretations of pathogenicity	926855674	RCV001164959\|RCV001164960\|RCV002240740\|RCV002276649\|RCV003163359;	N	MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MONDO:MONDO:0040501,MedGen:CN293783,OMIM:617821\|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MOND	7	94058658	94058658	7:g.94058658C>T	-
NM_000089.4(COL1A2):c.3879G>T (p.Gln1293His)	1278	COL1A2	Uncertain significance	1214506904	RCV002240328;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94058667	94058667	7:g.94058667G>T	-
NM_000089.4(COL1A2):c.3880G>C (p.Gly1294Arg)	1278	COL1A2	Uncertain significance	2115966913	RCV002242754;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94058668	94058668	94058668	-
NM_000089.4(COL1A2):c.3883T>C (p.Ser1295Pro)	1278	COL1A2	Conflicting interpretations of pathogenicity	757449082	RCV000284047\|RCV000380433\|RCV001861312;	N	MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MONDO:MONDO:0040501,MedGen:CN293783,OMIM:617821\|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94058671	94058671	NC_000007.13:g.94058671T>C	ClinGen:CA4347875	C0268345 130060 Ehlers-Danlos syndrome, procollagen proteinase deficient;
NM_000089.4(COL1A2):c.3897A>G (p.Glu1299=)	1278	COL1A2	Likely benign	1562908882	RCV002087072;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94058685	94058685	94058685	-
NM_000089.4(COL1A2):c.3902T>C (p.Val1301Ala)	1278	COL1A2	Uncertain significance	-1	RCV002922126;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94058690	94058690	NC_000007.13:g.94058690T>C	-
NM_000089.4(COL1A2):c.3936dup (p.Leu1313fs)	1278	COL1A2	Uncertain significance	2115967082	RCV002046858;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94058722	94058723	94058722	-
NM_000089.4(COL1A2):c.3938T>C (p.Leu1313Pro)	1278	COL1A2	Uncertain significance	780400987	RCV001944586;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94058726	94058726	94058726	-
NM_000089.4(COL1A2):c.3941T>C (p.Val1314Ala)	1278	COL1A2	Uncertain significance	1421507234	RCV002231021;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94058729	94058729	NC_000007.13:g.94058729T>C	ClinGen:CA368227087	C0268335 130000 Ehlers-Danlos syndrome, classic type;
NM_000089.4(COL1A2):c.3945T>C (p.Asp1315=)	1278	COL1A2	Likely benign	993519019	RCV002112576\|RCV003307948;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:CN230736	7	94058733	94058733	94058733	-
NM_000089.4(COL1A2):c.3949T>C (p.Cys1317Arg)	1278	COL1A2	Uncertain significance	1792355097	RCV002240237;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94058737	94058737	7:g.94058737T>C	-
NM_000089.4(COL1A2):c.3950G>A (p.Cys1317Tyr)	1278	COL1A2	Uncertain significance	2115967180	RCV002030562;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94058738	94058738	94058738	-
NM_000089.4(COL1A2):c.3954+8_3954+10del	1278	COL1A2	Likely benign	1792355337	RCV002240438;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94058748	94058750	94058747	-
NM_000089.4(COL1A2):c.3954+8A>G	1278	COL1A2	Likely benign	747626670	RCV000607141\|RCV002232995;	N	MedGen:CN169374\|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94058750	94058750	7:g.94058750A>G	ClinGen:CA4347883	CN169374 not specified;
NM_000089.4(COL1A2):c.3954+15A>T	1278	COL1A2	Likely benign	-1	RCV003052637;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94058757	94058757	NC_000007.13:g.94058757A>T	-
NM_000089.4(COL1A2):c.3954+17T>C	1278	COL1A2	Likely benign	-1	RCV002947213;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94058759	94058759	NC_000007.13:g.94058759T>C	-
NM_000089.4(COL1A2):c.3954+19T>C	1278	COL1A2	Likely benign	369698720	RCV001869902;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94058761	94058761	94058761	-
NM_000089.4(COL1A2):c.3971G>A (p.Trp1324Ter)	1278	COL1A2	Uncertain significance	2115969692	RCV001922511\|RCV002291005;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000\|MONDO:MONDO:0030855,MedGen:C5436847,OMIM:619120	7	94059575	94059575	94059575	-
NM_000089.4(COL1A2):c.3977A>T (p.Lys1326Met)	1278	COL1A2	Uncertain significance	943353660	RCV001995446;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94059581	94059581	94059581	-
NM_000089.4(COL1A2):c.3993C>T (p.Tyr1331=)	1278	COL1A2	Likely benign	1053163831	RCV002240712;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94059597	94059597	94059597	-
NM_000089.4(COL1A2):c.4012C>T (p.Arg1338Cys)	1278	COL1A2	Uncertain significance	781721538	RCV000762462\|RCV001375975\|RCV002533909;	N	MedGen:C3661900\|MONDO:MONDO:0040501,MedGen:CN293783,OMIM:617821\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94059616	94059616	NC_000007.13:g.94059616C>T	-
NM_000089.4(COL1A2):c.4013G>A (p.Arg1338His)	1278	COL1A2	Uncertain significance	748714040	RCV001961184\|RCV003232501;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:C3661900	7	94059617	94059617	94059617	-
NM_000089.4(COL1A2):c.4020C>T (p.Pro1340=)	1278	COL1A2	Likely benign	138451009	RCV002235707;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94059624	94059624	7:g.94059624C>T	-
NM_000089.4(COL1A2):c.4020C>G (p.Pro1340=)	1278	COL1A2	Likely benign	-1	RCV002615456;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94059624	94059624		-
NM_000089.4(COL1A2):c.4028A>G (p.Asp1343Gly)	1278	COL1A2	Uncertain significance	-1	RCV002643018;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94059632	94059632	NC_000007.13:g.94059632A>G	-
NM_000089.4(COL1A2):c.4036C>T (p.Pro1346Ser)	1278	COL1A2	Uncertain significance	369008932	RCV001764531\|RCV002231245;	N	MedGen:C3661900\|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94059640	94059640	NC_000007.13:g.94059640C>T	ClinGen:CA4347908	C0268335 130000 Ehlers-Danlos syndrome, classic type;
NM_000089.4(COL1A2):c.4047C>T (p.Ile1349=)	1278	COL1A2	Likely benign	144133431	RCV002243002;	N	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94059651	94059651	94059651	-
NM_000089.4(COL1A2):c.4052G>A (p.Gly1351Asp)	1278	COL1A2	Uncertain significance	372535479	RCV001732139\|RCV002242706;	N	MedGen:C3661900\|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94059656	94059656	94059656	-
NM_000089.4(COL1A2):c.4063G>T (p.Glu1355Ter)	1278	COL1A2	Uncertain significance	760626067	RCV002232963;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666; MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	7	94059667	94059667	7:g.94059667G>T	-	C0268335 130000 Ehlers-Danlos syndrome, classic type;
NM_000089.4(COL1A2):c.4078A>G (p.Ile1360Val)	1278	COL1A2	Uncertain significance	1281006993	RCV001759798\|RCV002240246;	N	MedGen:C3661900\|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000; MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	7	94059682	94059682	7:g.94059682A>G	-
Single allele	-1	PDK2;SGCA;PPP1R9B;ITGA3;SAMD14;COL1A1	Pathogenic	-1	RCV000490683;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666	17	48113750	48295937	NC_000007.13:g.30999250_31006943delinsAGAGATCCA	-	C1968689 243700 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive;
NC_000017.10:g.(?_48068881)_(48278874_?)del	-1	SGCA;COL1A1;DLX3;ITGA3;PDK2;PPP1R9B;SAMD14	Uncertain significance	-1	RCV003119280\|RCV003119279;	N	MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200, Orphanet:216796, Orphanet:666\|MedGen:C3661900	17	48068881	48278874		-

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