MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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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: Cataract (D002386)
Parent Node: Craniofacial Abnormalities (D019465)
Parent Node: Hearing Loss, Sensorineural (D006319)
Parent Node: Osteochondrodysplasias (D010009)
..Starting node ..Marshall syndrome (C536025)
Child Nodes:
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:

7453

Name:

Marshall syndrome

Definition:

Alternative IDs:

OMIM:154780

ParentIDs:

MESH:D002386|MESH:D006319|MESH:D010009|MESH:D019465

TreeNumbers:

C05.116.099.708/C536025 |C05.660.207/C536025 |C09.218.458.341.887/C536025 |C10.597.751.418.341.887/C536025 |C11.510.245/C536025 |C16.131.621.207/C536025 |C16.320.728/C536025 |C23.888.592.763.393.341.887/C536025

Synonyms:

Deafness, myopia, cataract, saddle nose-Marshall type |MRSHS

Slim Mappings:

Reference:

MedGen: C536025
MeSH: C536025
OMIM: 154780;
MSeqDR :
Genes: COL11A1;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0002688	Absent frontal sinuses
3	HP:0000463	Anteverted nares
4	HP:0005462	Calcification of falx cerebri
5	HP:0000175	Cleft palate
6	HP:0000519	Congenital cataract
7	HP:0002673	Coxa valga
8	HP:0005280	Depressed nasal bridge
9	HP:0000286	Epicanthus
10	HP:0000565	Esotropia
11	HP:0000501	Glaucoma
12	HP:0000316	Hypertelorism
13	HP:0000946	Hypoplastic ilia
14	HP:0006407	Irregular distal femoral epiphysis
15	HP:0006456	Irregular proximal tibial epiphyses
16	HP:0012019	Lens luxation
17	HP:0000343	Long philtrum
18	HP:0000369	Low-set ears
19	HP:0000675	Macrodontia of permanent maxillary central incisor
20	HP:0000272	Malar flattening
21	HP:0100250	Meningeal calcification
22	HP:0000347	Micrognathia
23	HP:0011800	Midface retrusion
24	HP:0000545	Myopia
25	HP:0000201	Pierre-Robin sequence
26	HP:0000926	Platyspondyly
27	HP:0002986	Radial bowing
28	HP:0000541	Retinal detachment
29	HP:0000407	Sensorineural hearing impairment NAMDC: Sensorineural hearing loss
30	HP:0003196	Short nose
31	HP:0004322	Short stature NAMDC: Short stature (patient��s height is below the 3rd percentile)
32	HP:0012283	Small distal femoral epiphysis
33	HP:0012284	Small proximal tibial epiphyses
34	HP:0000179	Thick lower lip vermilion
35	HP:0000215	Thick upper lip vermilion
36	HP:0002684	Thickened calvaria
37	HP:0003031	Ulnar bowing
38	HP:0000655	Vitreoretinal degeneration
39	HP:0006095	Wide tufts of distal phalanges

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_001854.4(COL11A1):c.*628dup	1301	COL11A1	Uncertain significance	532806397	RCV000300471\|RCV000335457\|RCV000399251;	N	MONDO:MONDO:0009226,MedGen:C3278138,OMIM:228520, Orphanet:2021\|MedGen:CN239460\|MONDO:MONDO:0007949,MedGen:C0265235,OMIM:154780, Orphanet:560	1	103342946	103342947	NC_000001.10:g.103342947dup	ClinGen:CA10607193	C0265282 228520 Fibrochondrogenesis;
NM_001854.4(COL11A1):c.5386G>A (p.Gly1796Arg)	1301	COL11A1	Uncertain significance	925433052	RCV001352190\|RCV002486462;	N	MedGen:CN517202\|MONDO:MONDO:0044339,MedGen:C0158252,OMIM:603932; MONDO:MONDO:0011493,MedGen:C1858084,OMIM:604841, Orphanet:828, Orphanet:90654; MONDO:MONDO:0032802,MedGen:C4760307,OMIM:618533; MONDO:MONDO:0007949,MedGen:C0265235,OMIM:154780, Orphanet:560; MOND	1	103343610	103343610	103343610	-
NM_001854.4(COL11A1):c.5198G>A (p.Arg1733His)	1301	COL11A1	Conflicting interpretations of pathogenicity	140250347	RCV000179660\|RCV000357636\|RCV000271060\|RCV000680455\|RCV001262338;	N	MedGen:CN517202\|MONDO:MONDO:0009226,MedGen:C3278138,OMIM:228520, Orphanet:2021\|MONDO:MONDO:0011493,MedGen:C1858084,OMIM:604841, Orphanet:828, Orphanet:90654\|MONDO:MONDO:0003900,MedGen:C0009782\|MONDO:MONDO:0007949,MedGen:C0265235,OMIM:154780, Orphanet:560	1	103345315	103345315	1:g.103345315C>T	ClinGen:CA246966	C0009782 Connective tissue disorder;
NM_001854.4(COL11A1):c.5029A>G (p.Arg1677Gly)	1301	COL11A1	Uncertain significance	-1	RCV002509001\|RCV002574721;	N	MONDO:MONDO:0007949,MedGen:C0265235,OMIM:154780, Orphanet:560; MONDO:MONDO:0011493,MedGen:C1858084,OMIM:604841, Orphanet:828, Orphanet:90654; MONDO:MONDO:0009226,MedGen:C3278138,OMIM:228520, Orphanet:2021\|MedGen:CN517202	1	103347264	103347264	NC_000001.10:g.103347264T>C	-
NM_001854.4(COL11A1):c.4859G>A (p.Gly1620Asp)	1301	COL11A1	Uncertain significance	-1	RCV003148569\|RCV003148567\|RCV003148568;	N	MONDO:MONDO:0032802,MedGen:C4760307,OMIM:618533\|MONDO:MONDO:0011493,MedGen:C1858084,OMIM:604841, Orphanet:828, Orphanet:90654\|MONDO:MONDO:0007949,MedGen:C0265235,OMIM:154780, Orphanet:560	1	103348867	103348867		-
NM_001854.4(COL11A1):c.4709T>C (p.Leu1570Pro)	1301	COL11A1	Conflicting interpretations of pathogenicity	558265763	RCV001940346\|RCV002491900\|RCV003416603;	N	MedGen:C3661900\|MONDO:MONDO:0011493,MedGen:C1858084,OMIM:604841, Orphanet:828, Orphanet:90654; MONDO:MONDO:0044339,MedGen:C0158252,OMIM:603932; MONDO:MONDO:0007949,MedGen:C0265235,OMIM:154780, Orphanet:560; MONDO:MONDO:0009226,MedGen:C3278138,OMIM:228520,Orph	1	103352512	103352512	103352512	-
NM_001854.4(COL11A1):c.4591G>C (p.Gly1531Arg)	1301	COL11A1	Uncertain significance	-1	RCV003314457;	N	MONDO:MONDO:0007949,MedGen:C0265235,OMIM:154780, Orphanet:560	1	103354150	103354150		-
NM_001854.4(COL11A1):c.4547G>T (p.Gly1516Val)	1301	COL11A1	Pathogenic/Likely pathogenic	1553193910	RCV000591257\|RCV000624108\|RCV001824151\|RCV001799515;	N	MedGen:CN517202\|MONDO:MONDO:0007949,MedGen:C0265235,OMIM:154780, Orphanet:560\|MONDO:MONDO:0011493,MedGen:C1858084,OMIM:604841, Orphanet:828, Orphanet:90654\|MONDO:MONDO:0007949,MedGen:C0265235,OMIM:154780, Orphanet:560; MONDO:MONDO:0032802,MedGen:C4760307,OMI	1	103354286	103354286	1:g.103354286C>A	ClinGen:CA341212387	C0265235 154780 Marshall syndrome;
NM_001854.4(COL11A1):c.4519-2del	1301	COL11A1	Pathogenic	2100852418	RCV001806225;	N	MONDO:MONDO:0032802,MedGen:C4760307,OMIM:618533; MONDO:MONDO:0007949,MedGen:C0265235,OMIM:154780, Orphanet:560; MONDO:MONDO:0011493,MedGen:C1858084,OMIM:604841, Orphanet:828, Orphanet:90654	1	103354316	103354316	103354315	-
NM_001854.4(COL11A1):c.4373T>C (p.Ile1458Thr)	1301	COL11A1	Uncertain significance	1651478594	RCV001262339;	N	MONDO:MONDO:0007949,MedGen:C0265235,OMIM:154780, Orphanet:560	1	103355102	103355102	1:g.103355102A>G	-
NM_001854.4(COL11A1):c.4357-16dup	1301	COL11A1	Conflicting interpretations of pathogenicity	748850423	RCV000278441\|RCV000342705\|RCV000372956\|RCV002059315;	N	MONDO:MONDO:0007949,MedGen:C0265235,OMIM:154780, Orphanet:560\|MedGen:CN239460\|MONDO:MONDO:0009226,MedGen:C3278138,OMIM:228520, Orphanet:2021\|MedGen:CN517202	1	103355133	103355134	NC_000001.10:g.103355141dup	ClinGen:CA973561	C0265282 228520 Fibrochondrogenesis;
NM_001854.4(COL11A1):c.4303-13dup	1301	COL11A1	Conflicting interpretations of pathogenicity	35232764	RCV000283513\|RCV000347832\|RCV000378676\|RCV001517955\|RCV001579371;	N	MONDO:MONDO:0007949,MedGen:C0265235,OMIM:154780, Orphanet:560\|MedGen:CN239460\|MONDO:MONDO:0009226,MedGen:C3278138,OMIM:228520, Orphanet:2021\|MedGen:CN517202\|MedGen:CN169374	1	103356072	103356073	NC_000001.10:g.103356082dup	ClinGen:CA973590	C0265282 228520 Fibrochondrogenesis;
NM_001854.4(COL11A1):c.4303-13del	1301	COL11A1	Benign	35232764	RCV000308286\|RCV000344187\|RCV000393305\|RCV001511437;	N	MONDO:MONDO:0007949,MedGen:C0265235,OMIM:154780, Orphanet:560\|MedGen:CN239460\|MONDO:MONDO:0009226,MedGen:C3278138,OMIM:228520, Orphanet:2021\|MedGen:C3661900	1	103356073	103356073	NC_000001.10:g.103356082del	ClinGen:CA973589	C0265282 228520 Fibrochondrogenesis;
NM_001854.4(COL11A1):c.4222G>A (p.Gly1408Ser)	1301	COL11A1	Conflicting interpretations of pathogenicity	200496207	RCV000368686\|RCV000393287\|RCV000488030\|RCV002480062\|RCV002519362;	N	MONDO:MONDO:0009226,MedGen:C3278138,OMIM:228520, Orphanet:2021\|MONDO:MONDO:0011493,MedGen:C1858084,OMIM:604841, Orphanet:828, Orphanet:90654\|MedGen:C3661900\|MONDO:MONDO:0007949,MedGen:C0265235,OMIM:154780, Orphanet:560; MONDO:MONDO:0009226,MedGen:C3278138,OM	1	103364248	103364248	NC_000001.10:g.103364248C>T	ClinGen:CA973631	C0265282 228520 Fibrochondrogenesis;
NM_001854.4(COL11A1):c.4175C>T (p.Thr1392Ile)	1301	COL11A1	Uncertain significance	780411112	RCV002478216\|RCV001917118;	N	MONDO:MONDO:0009226,MedGen:C3278138,OMIM:228520, Orphanet:2021; MONDO:MONDO:0011493,MedGen:C1858084,OMIM:604841, Orphanet:828, Orphanet:90654; MONDO:MONDO:0044339,MedGen:C0158252,OMIM:603932; MONDO:MONDO:0007949,MedGen:C0265235,OMIM:154780, Orphanet:560; MONDO:	1	103364295	103364295	103364295	-
NM_001854.4(COL11A1):c.4140+13del	1301	COL11A1	Likely benign	781736900	RCV000261359\|RCV000316689\|RCV000380527\|RCV001465625;	N	MONDO:MONDO:0007949,MedGen:C0265235,OMIM:154780, Orphanet:560\|MONDO:MONDO:0009226,MedGen:C3278138,OMIM:228520, Orphanet:2021\|MedGen:CN239460\|MedGen:CN517202	1	103364484	103364484	NC_000001.10:g.103364484del	ClinGen:CA973662	C0265282 228520 Fibrochondrogenesis;
NM_001854.4(COL11A1):c.4032+16A>G	1301	COL11A1	Benign/Likely benign	200202502	RCV001520419\|RCV002501829;	N	MedGen:C3661900\|MONDO:MONDO:0011493,MedGen:C1858084,OMIM:604841, Orphanet:828, Orphanet:90654; MONDO:MONDO:0007949,MedGen:C0265235,OMIM:154780, Orphanet:560; MONDO:MONDO:0009226,MedGen:C3278138,OMIM:228520, Orphanet:2021; MONDO:MONDO:0032802,MedGen:C4760307,OM	1	103379177	103379177	103379177	-
NM_001854.4(COL11A1):c.4031C>A (p.Pro1344Gln)	1301	COL11A1	Uncertain significance	528959090	RCV001196362;	N	MONDO:MONDO:0007949,MedGen:C0265235,OMIM:154780, Orphanet:560	1	103379194	103379194	1:g.103379194G>T	-
NM_001854.4(COL11A1):c.3817-10C>A	1301	COL11A1	Uncertain significance	776718424	RCV001199144;	N	MONDO:MONDO:0007949,MedGen:C0265235,OMIM:154780, Orphanet:560	1	103380377	103380377	1:g.103380377G>T	-
NM_001854.4(COL11A1):c.3817-14_3817-13dup	1301	COL11A1	Conflicting interpretations of pathogenicity	34228277	RCV000294996\|RCV000325284\|RCV000389263\|RCV000600627\|RCV001515354;	N	MONDO:MONDO:0009226,MedGen:C3278138,OMIM:228520, Orphanet:2021\|MONDO:MONDO:0007949,MedGen:C0265235,OMIM:154780, Orphanet:560\|MedGen:CN239460\|MedGen:CN169374\|MedGen:CN517202	1	103380379	103380380	NC_000001.10:g.103380391_103380392dup	ClinGen:CA973808	C0265282 228520 Fibrochondrogenesis;
NM_001854.4(COL11A1):c.3817-25dup	1301	COL11A1	Benign	34228277	RCV000610959\|RCV001584428\|RCV001584425\|RCV001584427\|RCV001584426\|RCV001521965;	N	MedGen:CN169374\|MONDO:MONDO:0032802,MedGen:C4760307,OMIM:618533\|MONDO:MONDO:0011493,MedGen:C1858084,OMIM:604841, Orphanet:828, Orphanet:90654\|MONDO:MONDO:0009226,MedGen:C3278138,OMIM:228520, Orphanet:2021\|MONDO:MONDO:0007949,MedGen:C0265235,OMIM:154780,Orp	1	103380379	103380380		ClinGen:CA973807
NM_001854.4(COL11A1):c.3817-13del	1301	COL11A1	Benign	34228277	RCV000282107\|RCV000331275\|RCV000385822\|RCV000615992\|RCV001515344;	N	MONDO:MONDO:0009226,MedGen:C3278138,OMIM:228520, Orphanet:2021\|MONDO:MONDO:0007949,MedGen:C0265235,OMIM:154780, Orphanet:560\|MedGen:CN239460\|MedGen:CN169374\|MedGen:C3661900	1	103380380	103380380	NC_000001.10:g.103380392del	ClinGen:CA973809	C0265282 228520 Fibrochondrogenesis;
NM_001854.4(COL11A1):c.3816+5G>A	1301	COL11A1	Conflicting interpretations of pathogenicity	1057524237	RCV000418088\|RCV000856778;	N	MedGen:C3661900\|MONDO:MONDO:0007949,MedGen:C0265235,OMIM:154780, Orphanet:560	1	103381182	103381182	1:g.103381182C>T	ClinGen:CA16603379	CN517202 not provided;
NM_001854.4(COL11A1):c.3816+2dup	1301	COL11A1	Pathogenic	1469787406	RCV001334963\|RCV001859329\|RCV002260151;	N	MONDO:MONDO:0009226,MedGen:C3278138,OMIM:228520, Orphanet:2021\|MedGen:CN517202\|MONDO:MONDO:0007949,MedGen:C0265235,OMIM:154780, Orphanet:560	1	103381184	103381185	103381184	LOVD 3:COL11A1_000107,OMIM:120280.0006
NM_001854.4(COL11A1):c.3814_3816+1del	1301	COL11A1	Pathogenic	2101038943	RCV000018672;	N	MONDO:MONDO:0007949,MedGen:C0265235,OMIM:154780, Orphanet:560	1	103381186	103381189	103381185	OMIM:120280.0004
NM_001854.4(COL11A1):c.3816+1G>A	1301	COL11A1	Pathogenic	398122828	RCV000032995\|RCV000579344\|RCV000623510\|RCV002468558\|RCV003313929;	N	MONDO:MONDO:0007949,MedGen:C0265235,OMIM:154780, Orphanet:560\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0011493,MedGen:C1858084,OMIM:604841, Orphanet:828, Orphanet:90654\|	1	103381186	103381186	1:g.103381186C>T	ClinGen:CA281108,OMIM:120280.0002,OMIM:120280.0012	C0950123 Inborn genetic diseases;
NM_001854.4(COL11A1):c.3816+1G>C	1301	COL11A1	Pathogenic	398122828	RCV001253407\|RCV001579902;	N	MONDO:MONDO:0007949,MedGen:C0265235,OMIM:154780, Orphanet:560\|MedGen:CN517202	1	103381186	103381186	1:g.103381186C>G	-
NM_001854.4(COL11A1):c.3811G>T (p.Val1271Leu)	1301	COL11A1	Conflicting interpretations of pathogenicity	150669855	RCV000179067\|RCV000303130\|RCV000395394\|RCV002508926;	N	MedGen:C3661900\|MONDO:MONDO:0009226,MedGen:C3278138,OMIM:228520, Orphanet:2021\|MONDO:MONDO:0011493,MedGen:C1858084,OMIM:604841, Orphanet:828, Orphanet:90654\|MONDO:MONDO:0007949,MedGen:C0265235,OMIM:154780, Orphanet:560; MONDO:MONDO:0011493,MedGen:C1858084,OM	1	103381192	103381192	1:g.103381192C>A	ClinGen:CA246297	C0265282 228520 Fibrochondrogenesis;
NM_001854.4(COL11A1):c.3788C>T (p.Pro1263Leu)	1301	COL11A1	Conflicting interpretations of pathogenicity	767905237	RCV000269269\|RCV000364042\|RCV002487297\|RCV002522048;	N	MONDO:MONDO:0011493,MedGen:C1858084,OMIM:604841, Orphanet:828, Orphanet:90654\|MONDO:MONDO:0009226,MedGen:C3278138,OMIM:228520, Orphanet:2021\|MONDO:MONDO:0044339,MedGen:C0158252,OMIM:603932; MONDO:MONDO:0007949,MedGen:C0265235,OMIM:154780, Orphanet:560; MONDO:	1	103381215	103381215	NC_000001.10:g.103381215G>A	ClinGen:CA973846	C0265282 228520 Fibrochondrogenesis;
NM_001854.4(COL11A1):c.3692G>T (p.Gly1231Val)	1301	COL11A1	Conflicting interpretations of pathogenicity	750291363	RCV001341960\|RCV001535998;	N	MedGen:C3661900\|MONDO:MONDO:0007949,MedGen:C0265235,OMIM:154780, Orphanet:560; MONDO:MONDO:0044339,MedGen:C0158252,OMIM:603932; MONDO:MONDO:0011493,MedGen:C1858084,OMIM:604841, Orphanet:828, Orphanet:90654; MONDO:MONDO:0032802,MedGen:C4760307,OMIM:618533; MOND	1	103387090	103387090	103387090	-
NC_000001.10:g.(103388956_103400026)_(104094395_?)del	1301	COL11A1	Likely pathogenic	-1	RCV001799525;	N	MONDO:MONDO:0011493,MedGen:C1858084,OMIM:604841, Orphanet:828, Orphanet:90654; MONDO:MONDO:0007949,MedGen:C0265235,OMIM:154780, Orphanet:560; MONDO:MONDO:0032802,MedGen:C4760307,OMIM:618533	1	103388956	104094395	-1	-
NM_001854.4(COL11A1):c.3168+41T>C	1301	COL11A1	Benign	1012282	RCV000250815\|RCV001582844\|RCV001582845\|RCV001582846\|RCV001582843\|RCV001689833;	N	MedGen:CN169374\|MONDO:MONDO:0007949,MedGen:C0265235,OMIM:154780, Orphanet:560\|MONDO:MONDO:0009226,MedGen:C3278138,OMIM:228520, Orphanet:2021\|MONDO:MONDO:0032802,MedGen:C4760307,OMIM:618533\|MONDO:MONDO:0011493,MedGen:C1858084,OMIM:604841, Orphanet:828,Orpha	1	103427381	103427381	NC_000001.10:g.103427381A>G	ClinGen:CA974118	CN169374 not specified;
NM_001854.4(COL11A1):c.3115G>A (p.Gly1039Ser)	1301	COL11A1	Likely pathogenic	764282256	RCV001257086;	N	MONDO:MONDO:0011493,MedGen:C1858084,OMIM:604841, Orphanet:828, Orphanet:90654; MONDO:MONDO:0007949,MedGen:C0265235,OMIM:154780, Orphanet:560	1	103427475	103427475	1:g.103427475C>T	-
NM_001854.4(COL11A1):c.3025-23A>T	1301	COL11A1	Benign	55682104	RCV000253856\|RCV001582839\|RCV001582842\|RCV001582840\|RCV001582841\|RCV001711557;	N	MedGen:CN169374\|MONDO:MONDO:0011493,MedGen:C1858084,OMIM:604841, Orphanet:828, Orphanet:90654\|MONDO:MONDO:0032802,MedGen:C4760307,OMIM:618533\|MONDO:MONDO:0007949,MedGen:C0265235,OMIM:154780, Orphanet:560\|MONDO:MONDO:0009226,MedGen:C3278138,OMIM:228520,Orph	1	103427844	103427844	NC_000001.10:g.103427844T>A	ClinGen:CA974179	CN169374 not specified;
NM_080629.2(COL11A1):c.2796_2813delTCAAGGACCTCAGGGTCC	1301	COL11A1	Pathogenic	-1	RCV001196068\|RCV001381547;	N	MONDO:MONDO:0007949,MedGen:C0265235,OMIM:154780, Orphanet:560\|MedGen:C3661900	1	103440417	103440434	1:g.103440417_103440434del	-
NM_001854.4(COL11A1):c.2711G>T (p.Gly904Val)	1301	COL11A1	Uncertain significance	2101679210	RCV001542313\|RCV001542312\|RCV001542314;	N	MONDO:MONDO:0007949,MedGen:C0265235,OMIM:154780, Orphanet:560\|MONDO:MONDO:0032802,MedGen:C4760307,OMIM:618533\|MONDO:MONDO:0011493,MedGen:C1858084,OMIM:604841, Orphanet:828, Orphanet:90654	1	103444307	103444307	103444307	-
NM_001854.4(COL11A1):c.2656-28T>C	1301	COL11A1	Benign	1903787	RCV000243560\|RCV001582832\|RCV001582830\|RCV001582833\|RCV001582831\|RCV001640519;	N	MedGen:CN169374\|MONDO:MONDO:0009226,MedGen:C3278138,OMIM:228520, Orphanet:2021\|MONDO:MONDO:0011493,MedGen:C1858084,OMIM:604841, Orphanet:828, Orphanet:90654\|MONDO:MONDO:0032802,MedGen:C4760307,OMIM:618533\|MONDO:MONDO:0007949,MedGen:C0265235,OMIM:154780,Orp	1	103444497	103444497	NC_000001.10:g.103444497A>G	ClinGen:CA974336	CN169374 not specified;
NM_001854.4(COL11A1):c.2644C>T (p.Arg882Cys)	1301	COL11A1	Conflicting interpretations of pathogenicity	749003514	RCV001733091\|RCV002508964;	N	MedGen:C3661900\|MONDO:MONDO:0009226,MedGen:C3278138,OMIM:228520, Orphanet:2021; MONDO:MONDO:0011493,MedGen:C1858084,OMIM:604841, Orphanet:828, Orphanet:90654; MONDO:MONDO:0007949,MedGen:C0265235,OMIM:154780, Orphanet:560	1	103444627	103444627	103444627	-
NM_001854.4(COL11A1):c.2611-4C>T	1301	COL11A1	Benign	79505593	RCV000243859\|RCV000343426\|RCV000390793\|RCV000955739\|RCV002500889;	N	MedGen:CN169374\|MONDO:MONDO:0011493,MedGen:C1858084,OMIM:604841, Orphanet:828, Orphanet:90654\|MONDO:MONDO:0009226,MedGen:C3278138,OMIM:228520, Orphanet:2021\|MedGen:C3661900\|MONDO:MONDO:0007949,MedGen:C0265235,OMIM:154780, Orphanet:560; MONDO:MONDO:0011493,Me	1	103444664	103444664	NC_000001.10:g.103444664G>A	ClinGen:CA974351	C0265282 228520 Fibrochondrogenesis;
NM_001854.4(COL11A1):c.2611-19A>C	1301	COL11A1	Benign	11164649	RCV000252063\|RCV001521967\|RCV001582827\|RCV001582828\|RCV001582829\|RCV001582826;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0007949,MedGen:C0265235,OMIM:154780, Orphanet:560\|MONDO:MONDO:0009226,MedGen:C3278138,OMIM:228520, Orphanet:2021\|MONDO:MONDO:0032802,MedGen:C4760307,OMIM:618533\|MONDO:MONDO:0011493,MedGen:C1858084,OMIM:604841,Or	1	103444679	103444679	NC_000001.10:g.103444679T>G	ClinGen:CA974356	CN169374 not specified;
NM_001854.4(COL11A1):c.2590A>C (p.Asn864His)	1301	COL11A1	Uncertain significance	1557897680	RCV001197622;	N	MONDO:MONDO:0007949,MedGen:C0265235,OMIM:154780, Orphanet:560	1	103444958	103444958	1:g.103444958T>G	-
NM_001854.4(COL11A1):c.2513G>A (p.Gly838Glu)	1301	COL11A1	Pathogenic/Likely pathogenic	372419698	RCV001587154\|RCV001825009;	N	MedGen:C3661900\|MONDO:MONDO:0032802,MedGen:C4760307,OMIM:618533; MONDO:MONDO:0007949,MedGen:C0265235,OMIM:154780, Orphanet:560; MONDO:MONDO:0011493,MedGen:C1858084,OMIM:604841, Orphanet:828, Orphanet:90654; MONDO:MONDO:0009226,MedGen:C3278138,OMIM:228520,Orph	1	103449737	103449737	103449737	-
NM_001854.4(COL11A1):c.2508dup (p.Leu837fs)	1301	COL11A1	Likely pathogenic	1663313424	RCV001293722;	N	MONDO:MONDO:0007949,MedGen:C0265235,OMIM:154780, Orphanet:560	1	103449741	103449742	103449741	-
NM_001854.4(COL11A1):c.2344_2352del (p.Glu782_Gly784del)	1301	COL11A1	Uncertain significance	2101750401	RCV001779393;	N	MONDO:MONDO:0007949,MedGen:C0265235,OMIM:154780, Orphanet:560	1	103455116	103455124	103455115	-
NM_001854.4(COL11A1):c.2295+37A>T	1301	COL11A1	Benign	2622867	RCV000247628\|RCV000834079\|RCV001582825\|RCV001582822\|RCV001582823\|RCV001582824;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0032802,MedGen:C4760307,OMIM:618533\|MONDO:MONDO:0011493,MedGen:C1858084,OMIM:604841, Orphanet:828, Orphanet:90654\|MONDO:MONDO:0007949,MedGen:C0265235,OMIM:154780, Orphanet:560\|MONDO:MONDO:0009226,MedGen:C3278138,	1	103461508	103461508	NC_000001.10:g.103461508T>A	ClinGen:CA974493	CN169374 not specified;
NM_001854.4(COL11A1):c.2285G>A (p.Arg762Gln)	1301	COL11A1	Conflicting interpretations of pathogenicity	758825857	RCV001878497\|RCV002478131;	N	MedGen:C3661900\|MONDO:MONDO:0044339,MedGen:C0158252,OMIM:603932; MONDO:MONDO:0007949,MedGen:C0265235,OMIM:154780, Orphanet:560; MONDO:MONDO:0032802,MedGen:C4760307,OMIM:618533; MONDO:MONDO:0011493,MedGen:C1858084,OMIM:604841, Orphanet:828, Orphanet:90654; MOND	1	103461555	103461555	103461555	-
NM_001854.4(COL11A1):c.2245C>T (p.Pro749Ser)	1301	COL11A1	Likely benign	1664593626	RCV001262563;	N	MONDO:MONDO:0007949,MedGen:C0265235,OMIM:154780, Orphanet:560	1	103461595	103461595	1:g.103461595G>A	-
NM_001854.4(COL11A1):c.2241+6T>C	1301	COL11A1	Uncertain significance	374197371	RCV000402995\|RCV002487183;	N	MedGen:CN517202\|MONDO:MONDO:0007949,MedGen:C0265235,OMIM:154780, Orphanet:560; MONDO:MONDO:0011493,MedGen:C1858084,OMIM:604841, Orphanet:828, Orphanet:90654; MONDO:MONDO:0044339,MedGen:C0158252,OMIM:603932; MONDO:MONDO:0032802,MedGen:C4760307,OMIM:618533; MOND	1	103462630	103462630	1:g.103462630A>G	ClinGen:CA974535	CN169374 not specified;
NM_001854.4(COL11A1):c.1999-10T>C	1301	COL11A1	Uncertain significance	1665243141	RCV001197404;	N	MONDO:MONDO:0007949,MedGen:C0265235,OMIM:154780, Orphanet:560	1	103468357	103468357	1:g.103468357A>G	-
NM_001854.4(COL11A1):c.1792-39ATG[11]	1301	COL11A1	Conflicting interpretations of pathogenicity	71752747	RCV000153075\|RCV000287893\|RCV000327589\|RCV000384516\|RCV000483453\|RCV002277301;	N	MedGen:CN517202\|MONDO:MONDO:0009226,MedGen:C3278138,OMIM:228520, Orphanet:2021\|MONDO:MONDO:0007949,MedGen:C0265235,OMIM:154780, Orphanet:560\|MedGen:CN239460\|MedGen:CN169374\|MONDO:MONDO:0003900,MedGen:C0009782	1	103471456	103471457	1:g.103471456_103471457insCAT	ClinGen:CA233802	C0265282 228520 Fibrochondrogenesis;
NM_001854.4(COL11A1):c.1792-39ATG[12]	1301	COL11A1	Conflicting interpretations of pathogenicity	71752747	RCV000296252\|RCV000345467\|RCV000388292\|RCV001516124;	N	MONDO:MONDO:0009226,MedGen:C3278138,OMIM:228520, Orphanet:2021\|MONDO:MONDO:0007949,MedGen:C0265235,OMIM:154780, Orphanet:560\|MedGen:CN239460\|MedGen:CN517202	1	103471456	103471457	NC_000001.10:g.103471459TCA[12]	ClinGen:CA974805	C0265282 228520 Fibrochondrogenesis;
NM_001854.4(COL11A1):c.1792-39ATG[9]	1301	COL11A1	Benign/Likely benign	71752747	RCV000079905\|RCV001510954\|RCV001582568\|RCV001582566\|RCV001582565\|RCV001582567;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0032802,MedGen:C4760307,OMIM:618533\|MONDO:MONDO:0007949,MedGen:C0265235,OMIM:154780, Orphanet:560\|MONDO:MONDO:0011493,MedGen:C1858084,OMIM:604841, Orphanet:828, Orphanet:90654\|MONDO:MONDO:0009226,MedGen:C3278138,	1	103471457	103471459	1:g.103471457_103471459del	ClinGen:CA147518	CN169374 not specified;
NM_001854.4(COL11A1):c.1792-39ATG[8]	1301	COL11A1	Benign	71752747	RCV000299923\|RCV000348883\|RCV000406295\|RCV000493621\|RCV001520834;	N	MedGen:CN239460\|MONDO:MONDO:0009226,MedGen:C3278138,OMIM:228520, Orphanet:2021\|MONDO:MONDO:0007949,MedGen:C0265235,OMIM:154780, Orphanet:560\|MedGen:CN169374\|MedGen:C3661900	1	103471457	103471462	NC_000001.10:g.103471459TCA[8]	ClinGen:CA974803	C0265282 228520 Fibrochondrogenesis;
NM_001854.4(COL11A1):c.1351-1G>A	1301	COL11A1	Uncertain significance	1666692498	RCV002227825;	N	MONDO:MONDO:0032802,MedGen:C4760307,OMIM:618533; MONDO:MONDO:0007949,MedGen:C0265235,OMIM:154780, Orphanet:560; MONDO:MONDO:0011493,MedGen:C1858084,OMIM:604841, Orphanet:828, Orphanet:90654	1	103483439	103483439	103483439	-
NM_001854.4(COL11A1):c.1245+1G>A	1301	COL11A1	Pathogenic/Likely pathogenic	766849561	RCV001780801\|RCV002503269;	N	MedGen:C3661900\|MONDO:MONDO:0007949,MedGen:C0265235,OMIM:154780, Orphanet:560; MONDO:MONDO:0044339,MedGen:C0158252,OMIM:603932; MONDO:MONDO:0011493,MedGen:C1858084,OMIM:604841, Orphanet:828, Orphanet:90654; MONDO:MONDO:0032802,MedGen:C4760307,OMIM:618533; MOND	1	103488297	103488297	103488297	-
NM_001854.4(COL11A1):c.1168G>T (p.Glu390Ter)	1301	COL11A1	Likely pathogenic	1667208458	RCV001249607;	N	MONDO:MONDO:0011493,MedGen:C1858084,OMIM:604841, Orphanet:828, Orphanet:90654; MONDO:MONDO:0007949,MedGen:C0265235,OMIM:154780, Orphanet:560; MONDO:MONDO:0009226,MedGen:C3278138,OMIM:228520, Orphanet:2021	1	103488375	103488375	1:g.103488375C>A	-
NM_001854.4(COL11A1):c.652-6dup	1301	COL11A1	Conflicting interpretations of pathogenicity	36076089	RCV000178856\|RCV000263527\|RCV000298695\|RCV000353677\|RCV001516565\|RCV002277415;	N	MedGen:CN169374\|MedGen:CN239460\|MONDO:MONDO:0009226,MedGen:C3278138,OMIM:228520, Orphanet:2021\|MONDO:MONDO:0007949,MedGen:C0265235,OMIM:154780, Orphanet:560\|MedGen:CN517202\|MONDO:MONDO:0003900,MedGen:C0009782	1	103496805	103496806	1:g.103496805_103496806insA	ClinGen:CA203052	C0265282 228520 Fibrochondrogenesis;
NM_001854.4(COL11A1):c.652-7_652-6dup	1301	COL11A1	Conflicting interpretations of pathogenicity	36076089	RCV000264210\|RCV000318728\|RCV000359471\|RCV001573712\|RCV001727668;	N	MedGen:CN239460\|MONDO:MONDO:0007949,MedGen:C0265235,OMIM:154780, Orphanet:560\|MONDO:MONDO:0009226,MedGen:C3278138,OMIM:228520, Orphanet:2021\|MedGen:CN517202\|MedGen:CN169374	1	103496805	103496806	NC_000001.10:g.103496817_103496818dup	ClinGen:CA975358	C0265282 228520 Fibrochondrogenesis;
NM_001854.4(COL11A1):c.652-7_652-6del	1301	COL11A1	Benign	36076089	RCV000178855\|RCV000288796\|RCV000323986\|RCV000378544\|RCV001516575\|RCV002277414;	N	MedGen:CN169374\|MedGen:CN239460\|MONDO:MONDO:0009226,MedGen:C3278138,OMIM:228520, Orphanet:2021\|MONDO:MONDO:0007949,MedGen:C0265235,OMIM:154780, Orphanet:560\|MedGen:CN517202\|MONDO:MONDO:0003900,MedGen:C0009782	1	103496806	103496807	NC_000001.10:g.103496817_103496818del	ClinGen:CA203051
NM_001854.4(COL11A1):c.652-6del	1301	COL11A1	Benign	36076089	RCV000202655\|RCV001582706\|RCV001582703\|RCV001582704\|RCV001582705\|RCV001510955\|RCV002277562;	N	MedGen:CN169374\|MONDO:MONDO:0032802,MedGen:C4760307,OMIM:618533\|MONDO:MONDO:0011493,MedGen:C1858084,OMIM:604841, Orphanet:828, Orphanet:90654\|MONDO:MONDO:0007949,MedGen:C0265235,OMIM:154780, Orphanet:560\|MONDO:MONDO:0009226,MedGen:C3278138,OMIM:228520,Orph	1	103496806	103496806	1:g.103496806_103496806del	ClinGen:CA248857	CN169374 not specified;
NM_001854.4(COL11A1):c.651+16A>G	1301	COL11A1	Benign	116303092	RCV000245300\|RCV001522057\|RCV002500890;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0007949,MedGen:C0265235,OMIM:154780, Orphanet:560; MONDO:MONDO:0011493,MedGen:C1858084,OMIM:604841, Orphanet:828, Orphanet:90654; MONDO:MONDO:0044339,MedGen:C0158252,OMIM:603932; MONDO:MONDO:0009226,MedGen:C3278138,	1	103540158	103540158	NC_000001.10:g.103540158T>C	ClinGen:CA975393	CN169374 not specified;
NM_001854.4(COL11A1):c.549GAA[1] (p.Lys185del)	1301	COL11A1	Uncertain significance	774335092	RCV001876684\|RCV002482471;	N	MedGen:C3661900\|MONDO:MONDO:0011493,MedGen:C1858084,OMIM:604841, Orphanet:828, Orphanet:90654; MONDO:MONDO:0032802,MedGen:C4760307,OMIM:618533; MONDO:MONDO:0007949,MedGen:C0265235,OMIM:154780, Orphanet:560; MONDO:MONDO:0009226,MedGen:C3278138,OMIM:228520,Orph	1	103540271	103540273	103540270	-
NM_001854.4(COL11A1):c.385G>A (p.Val129Ile)	1301	COL11A1	Uncertain significance	1672174219	RCV001197819;	N	MONDO:MONDO:0007949,MedGen:C0265235,OMIM:154780, Orphanet:560	1	103544317	103544317	1:g.103544317C>T	-
NM_001854.4(COL11A1):c.281C>T (p.Thr94Ile)	1301	COL11A1	Conflicting interpretations of pathogenicity	1283924469	RCV001249437\|RCV001587283\|RCV003416124;	N	MONDO:MONDO:0011493,MedGen:C1858084,OMIM:604841, Orphanet:828, Orphanet:90654; MONDO:MONDO:0007949,MedGen:C0265235,OMIM:154780, Orphanet:560; MONDO:MONDO:0009226,MedGen:C3278138,OMIM:228520, Orphanet:2021\|MedGen:C3661900\|	1	103544421	103544421	1:g.103544421G>A	-
NM_001854.4(COL11A1):c.274+42G>C	1301	COL11A1	Benign	11164662	RCV000248295\|RCV000834074\|RCV001582837\|RCV001582834\|RCV001582835\|RCV001582836;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0032802,MedGen:C4760307,OMIM:618533\|MONDO:MONDO:0011493,MedGen:C1858084,OMIM:604841, Orphanet:828, Orphanet:90654\|MONDO:MONDO:0007949,MedGen:C0265235,OMIM:154780, Orphanet:560\|MONDO:MONDO:0009226,MedGen:C3278138,	1	103548319	103548319	NC_000001.10:g.103548319C>G	ClinGen:CA975503	CN169374 not specified;
NM_001854.4(COL11A1):c.130G>A (p.Ala44Thr)	1301	COL11A1	Benign/Likely benign	150090939	RCV000279365\|RCV000334463\|RCV000601599\|RCV000896363\|RCV002278330\|RCV002494901;	N	MONDO:MONDO:0011493,MedGen:C1858084,OMIM:604841, Orphanet:828, Orphanet:90654\|MONDO:MONDO:0009226,MedGen:C3278138,OMIM:228520, Orphanet:2021\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0003900,MedGen:C0009782\|MONDO:MONDO:0007949,MedGen:C0265235,OMIM:154780	1	103548505	103548505	NC_000001.10:g.103548505C>T	ClinGen:CA975546	C0265282 228520 Fibrochondrogenesis;
NM_001854.4(COL11A1):c.-198_-195del	1301	COL11A1	Uncertain significance	886044981	RCV000308603\|RCV000347101\|RCV000403754;	N	MedGen:CN239460\|MONDO:MONDO:0009226,MedGen:C3278138,OMIM:228520, Orphanet:2021\|MONDO:MONDO:0007949,MedGen:C0265235,OMIM:154780, Orphanet:560	1	103573929	103573932	NC_000001.10:g.103573929_103573932del	ClinGen:CA10607220	C0265282 228520 Fibrochondrogenesis;
NM_001854.4(COL11A1):c.-231dup	1301	COL11A1	Uncertain significance	886044983	RCV000263869\|RCV000298954\|RCV000356083;	N	MONDO:MONDO:0007949,MedGen:C0265235,OMIM:154780, Orphanet:560\|MedGen:CN239460\|MONDO:MONDO:0009226,MedGen:C3278138,OMIM:228520, Orphanet:2021	1	103573964	103573965	NC_000001.10:g.103573965dup	ClinGen:CA10607222	C0265282 228520 Fibrochondrogenesis;
NM_016580.4(PCDH12):c.1060G>A (p.Val354Ile)	51294	PCDH12	Conflicting interpretations of pathogenicity	763363704	RCV002196896\|RCV002471253;	N	MedGen:C3661900\|MONDO:MONDO:0007949,MedGen:C0265235,OMIM:154780, Orphanet:560	5	141336357	141336357	141336357	-

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