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Links from MedGen

Items: 1 to 100 of 222

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr12:48379694
GRCh38:
Chr12:47985911
COL2A1Spondyloepiphyseal dysplasia congenitaLikely pathogenic
(Nov 27, 2023)		criteria provided, single submitter
2.
GRCh37:
Chr12:48380887
GRCh38:
Chr12:47987104
COL2A1G378S, G447SSpondyloepiphyseal dysplasia congenitaUncertain significancecriteria provided, single submitter
3.
GRCh37:
Chr12:48389704
GRCh38:
Chr12:47995921
COL2A1Spondyloepiphyseal dysplasia congenitaLikely pathogenic
(Oct 12, 2022)		criteria provided, single submitter
4.
GRCh37:
Chr12:48380144
GRCh38:
Chr12:47986361
COL2A1G432E, G501ESpondyloepiphyseal dysplasia congenitaLikely pathogenic
(Jan 18, 2023)		criteria provided, single submitter
5.
GRCh37:
Chr12:48376720
GRCh38:
Chr12:47982937
COL2A1G633S, G702SSpondyloepiphyseal dysplasia congenitaLikely pathogenic
(Jul 18, 2022)		criteria provided, single submitter
6.
GRCh37:
Chr12:48370633
GRCh38:
Chr12:47976850
COL2A1R1064C, R1133Cnot provided, Spondyloepiphyseal dysplasia congenitaConflicting interpretations of pathogenicity
(Jul 1, 2022)		criteria provided, conflicting interpretations
7.
GRCh37:
Chr12:48371788
GRCh38:
Chr12:47978005
COL2A1not provided, Spondyloepiphyseal dysplasia, Stanescu type, Stickler syndrome type 1,
Spondyloepimetaphyseal dysplasia, Strudwick type, Spondyloperipheral dysplasia, Legg-Calve-Perthes disease,
Kniest dysplasia, Multiple epiphyseal dysplasia, Beighton type, Czech dysplasia, metatarsal type,
Spondyloepiphyseal dysplasia congenita, Vitreoretinopathy with phalangeal epiphyseal dysplasiaSpondylometaphyseal dysplasia - Sutcliffe type,
Achondrogenesis type II, Stickler syndrome, type I, nonsyndromic ocular, Platyspondylic dysplasia, Torrance type,
Namaqualand hip dysplasia, Avascular necrosis of femoral head, primary, 1, ...see more		Uncertain significance
(Jun 13, 2022)		criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr12:48372559
GRCh38:
Chr12:47978776
COL2A1not provided, Kniest dysplasia, Legg-Calve-Perthes disease,
Czech dysplasia, metatarsal type, Spondyloepiphyseal dysplasia, Stanescu type, Multiple epiphyseal dysplasia, Beighton type,
Spondyloepiphyseal dysplasia congenita, Spondylometaphyseal dysplasia - Sutcliffe type, Stickler syndrome, type I, nonsyndromic ocular,
Achondrogenesis type II, Avascular necrosis of femoral head, primary, 1Stickler syndrome type 1,
Spondyloepimetaphyseal dysplasia, Strudwick type, Spondyloperipheral dysplasia, Vitreoretinopathy with phalangeal epiphyseal dysplasia,
Platyspondylic dysplasia, Torrance type, Namaqualand hip dysplasia, ...see more		Likely benign
(Aug 31, 2022)		criteria provided, multiple submitters, no conflicts
9.
GRCh37:
Chr12:48372480
GRCh38:
Chr12:47978697
COL2A1R863Q, R932Qnot provided, Stickler syndrome, type I, nonsyndromic ocular, Achondrogenesis type II,
Legg-Calve-Perthes disease, Kniest dysplasia, Stickler syndrome type 1,
Spondyloepimetaphyseal dysplasia, Strudwick type, Spondyloperipheral dysplasia, Spondyloepiphyseal dysplasia, Stanescu type,
Multiple epiphyseal dysplasia, Beighton type, Czech dysplasia, metatarsal typeNamaqualand hip dysplasia,
Vitreoretinopathy with phalangeal epiphyseal dysplasia, Platyspondylic dysplasia, Torrance type, Avascular necrosis of femoral head, primary, 1,
Spondyloepiphyseal dysplasia congenita, Spondylometaphyseal dysplasia - Sutcliffe type, ...see more		Conflicting interpretations of pathogenicity
(Sep 9, 2022)		criteria provided, conflicting interpretations
10.
GRCh37:
Chr12:48372417
GRCh38:
Chr12:47978634
COL2A1P884fs, P953fsnot provided, Namaqualand hip dysplasia, Czech dysplasia, metatarsal type,
Spondyloepimetaphyseal dysplasia, Strudwick type, Spondyloperipheral dysplasia, Legg-Calve-Perthes disease,
Kniest dysplasia, Achondrogenesis type II, Avascular necrosis of femoral head, primary, 1,
Multiple epiphyseal dysplasia, Beighton type, Spondyloepiphyseal dysplasia, Stanescu typeStickler syndrome type 1,
Spondyloepiphyseal dysplasia congenita, Spondylometaphyseal dysplasia - Sutcliffe type, Stickler syndrome, type I, nonsyndromic ocular,
Vitreoretinopathy with phalangeal epiphyseal dysplasia, Platyspondylic dysplasia, Torrance type, ...see more		Pathogenic
(Jan 4, 2022)		criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr12:48380133
GRCh38:
Chr12:47986350
COL2A1P505S, P436Snot provided, Spondyloepiphyseal dysplasia congenita, Stickler syndrome type 1
Conflicting interpretations of pathogenicity
(Nov 27, 2023)		criteria provided, conflicting interpretations
12.
GRCh37:
Chr12:48378854
GRCh38:
Chr12:47985071
COL2A1R586H, R517Hnot provided, Legg-Calve-Perthes disease, Spondyloepiphyseal dysplasia congenita,
Spondylometaphyseal dysplasia - Sutcliffe type, Stickler syndrome, type I, nonsyndromic ocular, Kniest dysplasia,
Achondrogenesis type II, Avascular necrosis of femoral head, primary, 1, Multiple epiphyseal dysplasia, Beighton type,
Spondyloepiphyseal dysplasia, Stanescu type, Spondyloperipheral dysplasiaStickler syndrome type 1,
Spondyloepimetaphyseal dysplasia, Strudwick type, Czech dysplasia, metatarsal type, Vitreoretinopathy with phalangeal epiphyseal dysplasia,
Platyspondylic dysplasia, Torrance type, Namaqualand hip dysplasia, ...see more		Conflicting interpretations of pathogenicity
(Jul 19, 2022)		criteria provided, conflicting interpretations
13.
GRCh37:
Chr12:48372495
GRCh38:
Chr12:47978712
COL2A1G858V, G927VSpondyloepiphyseal dysplasia congenitaPathogenic
(Mar 10, 2022)		no assertion criteria provided
14.
GRCh37:
Chr12:48381420
GRCh38:
Chr12:47987637
COL2A1G330R, G399RSpondyloepiphyseal dysplasia congenitaPathogenic
(Nov 17, 2020)		criteria provided, single submitter
15.
GRCh37:
Chr12:48383064
GRCh38:
Chr12:47989281
COL2A1G288S, G357SSpondyloepiphyseal dysplasia congenitaPathogenic
(Jul 12, 2021)		criteria provided, single submitter
16.
GRCh37:
Chr12:48386704
GRCh38:
Chr12:47992921
COL2A1G258V, G327VSpondyloepiphyseal dysplasia congenitaPathogenic
(Feb 28, 2020)		criteria provided, single submitter
17.
GRCh37:
Chr12:48368056
GRCh38:
Chr12:47974273
COL2A1L1309Q, L1378QSpondyloepiphyseal dysplasia congenitaLikely pathogenic
(Dec 4, 2021)		criteria provided, single submitter
18.
GRCh37:
Chr12:48368582
GRCh38:
Chr12:47974799
COL2A1M1248R, M1317RSpondyloepiphyseal dysplasia congenitaUncertain significance
(Dec 4, 2021)		criteria provided, single submitter
19.
GRCh37:
Chr12:48368635
GRCh38:
Chr12:47974852
COL2A1W1230C, W1299CSpondyloepiphyseal dysplasia congenitaLikely pathogenic
(Dec 4, 2021)		criteria provided, single submitter
20.
GRCh37:
Chr12:48389692
GRCh38:
Chr12:47995909
COL2A1G138V, G207VSpondyloepiphyseal dysplasia congenitaLikely pathogenic
(Dec 4, 2021)		criteria provided, single submitter
21.
GRCh37:
Chr12:48369754
GRCh38:
Chr12:47975971
COL2A1G1128R, G1197RSpondyloepiphyseal dysplasia congenita, not providedPathogenic/Likely pathogenic
(Aug 27, 2021)		criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr12:48370323
GRCh38:
Chr12:47976540
COL2A1G1086R, G1155RSpondyloepiphyseal dysplasia congenitaPathogenic
(Jun 26, 2020)		criteria provided, single submitter
23.
GRCh37:
Chr12:48370684
GRCh38:
Chr12:47976901
COL2A1G1047C, G1116CSpondyloepiphyseal dysplasia congenitaPathogenic
(Oct 14, 2019)		criteria provided, single submitter
24.
GRCh37:
Chr12:48373800
GRCh38:
Chr12:47980017
COL2A1G822S, G891SSpondyloepiphyseal dysplasia congenitaPathogenic
(Dec 12, 2017)		criteria provided, single submitter
25.
GRCh37:
Chr12:48376729
GRCh38:
Chr12:47982946
COL2A1G630C, G699CSpondyloepiphyseal dysplasia congenitaPathogenic
(Dec 4, 2021)		criteria provided, single submitter
26.
GRCh37:
Chr12:48378831
GRCh38:
Chr12:47985048
COL2A1G525R, G594RSpondyloepimetaphyseal dysplasia, Strudwick type, Spondyloepiphyseal dysplasia congenitaPathogenic
(Nov 27, 2023)		criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr12:48379512
GRCh38:
Chr12:47985729
COL2A1R491P, R560Pnot providedUncertain significance
(Oct 17, 2022)		criteria provided, multiple submitters, no conflicts
28.
GRCh37:
Chr12:48367935
GRCh38:
Chr12:47974152
COL2A1not provided, Legg-Calve-Perthes disease, Kniest dysplasia,
Spondyloepiphyseal dysplasia congenita, Stickler syndrome, type I, nonsyndromic ocular, Spondylometaphyseal dysplasia - Sutcliffe type,
Achondrogenesis type II, Vitreoretinopathy with phalangeal epiphyseal dysplasia, Spondyloepiphyseal dysplasia, Stanescu type,
Avascular necrosis of femoral head, primary, 1, Platyspondylic dysplasia, Torrance typeNamaqualand hip dysplasia,
Czech dysplasia, metatarsal type, Multiple epiphyseal dysplasia, Beighton type, Spondyloepimetaphyseal dysplasia, Strudwick type,
Stickler syndrome type 1, Spondyloperipheral dysplasia, ...see more		Likely benign
(Jan 28, 2022)		criteria provided, multiple submitters, no conflicts
29.
GRCh37:
Chr12:48367235
GRCh38:
Chr12:47973452
COL2A1Kniest dysplasia, Achondrogenesis type II, Namaqualand hip dysplasia,
Spondyloperipheral dysplasia, Legg-Calve-Perthes disease, Avascular necrosis of femoral head, primary, 1,
Spondyloepiphyseal dysplasia, Stanescu type, Stickler syndrome type 1, Platyspondylic dysplasia, Torrance type,
Spondyloepimetaphyseal dysplasia, Strudwick type, Multiple epiphyseal dysplasia, Beighton typeCzech dysplasia, metatarsal type,
Vitreoretinopathy with phalangeal epiphyseal dysplasia, Spondyloepiphyseal dysplasia congenita, Spondylometaphyseal dysplasia - Sutcliffe type,
Stickler syndrome, type I, nonsyndromic ocular, not provided, ...see more		Likely benign
(Jun 27, 2022)		criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr12:48372389
GRCh38:
Chr12:47978606
COL2A1not provided, Kniest dysplasia, Achondrogenesis type II,
Namaqualand hip dysplasia, Spondyloperipheral dysplasia, Legg-Calve-Perthes disease,
Avascular necrosis of femoral head, primary, 1, Spondyloepiphyseal dysplasia, Stanescu type, Stickler syndrome type 1,
Platyspondylic dysplasia, Torrance type, Spondyloepimetaphyseal dysplasia, Strudwick typeMultiple epiphyseal dysplasia, Beighton type,
Czech dysplasia, metatarsal type, Vitreoretinopathy with phalangeal epiphyseal dysplasia, Spondyloepiphyseal dysplasia congenita,
Spondylometaphyseal dysplasia - Sutcliffe type, Stickler syndrome, type I, nonsyndromic ocular, ...see more		Likely benign
(Aug 8, 2022)		criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr12:48368518
GRCh38:
Chr12:47974735
COL2A1Kniest dysplasia, Achondrogenesis type II, Namaqualand hip dysplasia,
Spondyloperipheral dysplasia, Legg-Calve-Perthes disease, Avascular necrosis of femoral head, primary, 1,
Spondyloepiphyseal dysplasia, Stanescu type, Stickler syndrome type 1, Platyspondylic dysplasia, Torrance type,
Spondyloepimetaphyseal dysplasia, Strudwick type, Multiple epiphyseal dysplasia, Beighton typeCzech dysplasia, metatarsal type,
Vitreoretinopathy with phalangeal epiphyseal dysplasia, Spondyloepiphyseal dysplasia congenita, Spondylometaphyseal dysplasia - Sutcliffe type,
Stickler syndrome, type I, nonsyndromic ocular, not provided, ...see more		Likely benign
(May 29, 2022)		criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr12:48371897
GRCh38:
Chr12:47978114
COL2A1E1003K, E934Knot provided, Achondrogenesis type II, Avascular necrosis of femoral head, primary, 1,
Czech dysplasia, metatarsal type, Platyspondylic dysplasia, Torrance type, Spondylometaphyseal dysplasia - Sutcliffe type,
Vitreoretinopathy with phalangeal epiphyseal dysplasia, Multiple epiphyseal dysplasia, Beighton type, Namaqualand hip dysplasia,
Stickler syndrome, type I, nonsyndromic ocular, Spondyloperipheral dysplasiaStickler syndrome type 1,
Legg-Calve-Perthes disease, Kniest dysplasia, Spondyloepimetaphyseal dysplasia, Strudwick type,
Spondyloepiphyseal dysplasia congenita, Spondyloepiphyseal dysplasia, Stanescu type, ...see more		Uncertain significance
(Sep 15, 2022)		criteria provided, multiple submitters, no conflicts
33.
GRCh37:
Chr5:172571635
GRCh38:
Chr5:173144632
BNIP1Spondyloepiphyseal dysplasia congenitaUncertain significance
(Feb 23, 2021)		criteria provided, single submitter
34.
GRCh37:
Chr12:48383555
GRCh38:
Chr12:47989772
COL2A1A284T, A353Tnot provided, Achondrogenesis type II, Avascular necrosis of femoral head, primary, 1,
Czech dysplasia, metatarsal type, Platyspondylic dysplasia, Torrance type, Spondylometaphyseal dysplasia - Sutcliffe type,
Vitreoretinopathy with phalangeal epiphyseal dysplasia, Multiple epiphyseal dysplasia, Beighton type, Namaqualand hip dysplasia,
Stickler syndrome, type I, nonsyndromic ocular, Spondyloperipheral dysplasiaStickler syndrome type 1,
Legg-Calve-Perthes disease, Kniest dysplasia, Spondyloepimetaphyseal dysplasia, Strudwick type,
Spondyloepiphyseal dysplasia congenita, Spondyloepiphyseal dysplasia, Stanescu type, ...see more		Conflicting interpretations of pathogenicity
(Aug 24, 2022)		criteria provided, conflicting interpretations
35.
GRCh37:
Chr12:48372415
GRCh38:
Chr12:47978632
COL2A1G885S, G954SSpondyloepiphyseal dysplasia congenitaLikely pathogenic
(May 31, 2019)		no assertion criteria provided
36.
GRCh37:
Chr12:48383560
GRCh38:
Chr12:47989777
COL2A1G282V, G351Vnot provided, Spondyloepiphyseal dysplasia congenitaConflicting interpretations of pathogenicity
(Nov 10, 2021)		criteria provided, conflicting interpretations
37.
GRCh37:
Chr12:48370342-48370344
GRCh38:
Chr12:47976559-47976561
COL2A1S1079del, S1148delCOL2A1-related skeletal dysplasia, Spondyloepiphyseal dysplasia congenitaPathogenic/Likely pathogenic
(Dec 2, 2019)		criteria provided, multiple submitters, no conflicts
38.
GRCh37:
Chr12:48369790
GRCh38:
Chr12:47976007
COL2A1G1116R, G1185RSpondyloepiphyseal dysplasia congenitaPathogenic
(Feb 1, 2020)		no assertion criteria provided
39.
GRCh37:
Chr12:48380189
GRCh38:
Chr12:47986406
COL2A1G417D, G486DSpondyloepiphyseal dysplasia congenita, not providedLikely pathogenic
(Aug 27, 2021)		criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr12:48378361
GRCh38:
Chr12:47984578
COL2A1E619K, E550Knot provided, Achondrogenesis type II, Legg-Calve-Perthes disease,
Kniest dysplasia, Czech dysplasia, metatarsal type, Spondyloepimetaphyseal dysplasia, Strudwick type,
Avascular necrosis of femoral head, primary, 1, Stickler syndrome, type I, nonsyndromic ocular, Multiple epiphyseal dysplasia, Beighton type,
Namaqualand hip dysplasia, Spondyloperipheral dysplasiaStickler syndrome type 1,
Platyspondylic dysplasia, Torrance type, Spondyloepiphyseal dysplasia, Stanescu type, Spondylometaphyseal dysplasia - Sutcliffe type,
Spondyloepiphyseal dysplasia congenita, Vitreoretinopathy with phalangeal epiphyseal dysplasia, ...see more		Conflicting interpretations of pathogenicity
(Nov 1, 2022)		criteria provided, conflicting interpretations
41.
GRCh37:
Chr12:48377212
GRCh38:
Chr12:47983429
COL2A1G600S, G669SSpondyloepiphyseal dysplasia congenita, not provided, COL2A1-related disorders,
Connective tissue disorder		Pathogenic/Likely pathogenic
(Aug 8, 2022)		criteria provided, multiple submitters, no conflicts
42.
GRCh37:
Chr12:48391982
GRCh38:
Chr12:47998199
COL2A1not provided, Achondrogenesis type II, Avascular necrosis of femoral head, primary, 1,
Spondyloperipheral dysplasia, Stickler syndrome, type I, nonsyndromic ocular, Spondyloepiphyseal dysplasia, Stanescu type,
Multiple epiphyseal dysplasia, Beighton type, Namaqualand hip dysplasia, Spondylometaphyseal dysplasia - Sutcliffe type,
Spondyloepiphyseal dysplasia congenita, Vitreoretinopathy with phalangeal epiphyseal dysplasiaSpondyloepimetaphyseal dysplasia, Strudwick type,
Czech dysplasia, metatarsal type, Legg-Calve-Perthes disease, Kniest dysplasia,
Stickler syndrome type 1, Platyspondylic dysplasia, Torrance type, ...see more		Likely benign
(Sep 7, 2022)		criteria provided, multiple submitters, no conflicts
43.
GRCh37:
Chr12:48377193
GRCh38:
Chr12:47983410
COL2A1G675D, G606Dnot provided, Spondyloepiphyseal dysplasia congenitaPathogenic
(Aug 28, 2021)		criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr12:48367201
GRCh38:
Chr12:47973418
COL2A1C1485R, C1416Rnot provided, Spondyloepiphyseal dysplasia congenitaConflicting interpretations of pathogenicity
(Aug 31, 2021)		criteria provided, conflicting interpretations
45.
GRCh37:
Chr12:48374344
GRCh38:
Chr12:47980561
COL2A1G873V, G804VAchondrogenesis type II, Multiple epiphyseal dysplasia, Beighton type, Platyspondylic dysplasia, Torrance type,
Namaqualand hip dysplasia, Czech dysplasia, metatarsal type, Avascular necrosis of femoral head, primary, 1,
Legg-Calve-Perthes disease, Spondyloperipheral dysplasia, Stickler syndrome type 1,
Spondyloepiphyseal dysplasia, Stanescu type, Kniest dysplasiaSpondylometaphyseal dysplasia,
Spondyloepiphyseal dysplasia congenita, Stickler syndrome, type I, nonsyndromic ocular, Epiphyseal dysplasia, multiple, 6,
Stickler syndrome, type 4, ...see more		Uncertain significance
(May 9, 2016)		criteria provided, single submitter
46.
GRCh37:
Chr12:48383019
GRCh38:
Chr12:47989236
COL2A1G372R, G303RSpondyloepiphyseal dysplasia congenitaPathogenic
(Nov 1, 2016)		criteria provided, single submitter
47.
GRCh37:
Chr12:48367310
GRCh38:
Chr12:47973527
COL2A1Connective tissue disorder, not specified, not provided,
Stickler syndrome type 1, Achondrogenesis type II, Multiple epiphyseal dysplasia, Beighton type,
Legg-Calve-Perthes disease, Czech dysplasia, metatarsal type, Avascular necrosis of femoral head, primary, 1,
Spondyloepimetaphyseal dysplasia, Strudwick type, Spondylometaphyseal dysplasia - Sutcliffe typeStickler syndrome, type I, nonsyndromic ocular,
Vitreoretinopathy with phalangeal epiphyseal dysplasia, Namaqualand hip dysplasia, Spondyloepiphyseal dysplasia congenita,
Kniest dysplasia, Spondyloperipheral dysplasia, Stickler syndrome type 1,
Platyspondylic dysplasia, Torrance type, Spondyloepiphyseal dysplasia, Stanescu type, Type II Collagenopathies,
...see more		Benign/Likely benign
(Oct 27, 2022)		criteria provided, multiple submitters, no conflicts
48.
GRCh37:
Chr12:48376664
GRCh38:
Chr12:47982881
COL2A1not specified, Achondrogenesis type II, Avascular necrosis of femoral head, primary, 1,
Spondyloepiphyseal dysplasia congenita, Stickler syndrome, type I, nonsyndromic ocular, Legg-Calve-Perthes disease,
Kniest dysplasia, Platyspondylic dysplasia, Torrance type, Spondylometaphyseal dysplasia - Sutcliffe type,
Vitreoretinopathy with phalangeal epiphyseal dysplasia, Multiple epiphyseal dysplasia, Beighton typeSpondyloperipheral dysplasia,
Stickler syndrome type 1, Spondyloepimetaphyseal dysplasia, Strudwick type, Namaqualand hip dysplasia,
Czech dysplasia, metatarsal type, Spondyloepiphyseal dysplasia, Stanescu type, not provided,
Connective tissue disorder, ...see more		Benign/Likely benign
(Nov 1, 2022)		criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr12:48387766
GRCh38:
Chr12:47993983
COL2A1not specified, not provided, Achondrogenesis type II,
Multiple epiphyseal dysplasia, Beighton type, Legg-Calve-Perthes disease, Czech dysplasia, metatarsal type,
Avascular necrosis of femoral head, primary, 1, Spondyloepimetaphyseal dysplasia, Strudwick type, Spondylometaphyseal dysplasia - Sutcliffe type,
Stickler syndrome, type I, nonsyndromic ocular, Vitreoretinopathy with phalangeal epiphyseal dysplasiaNamaqualand hip dysplasia,
Spondyloepiphyseal dysplasia congenita, Kniest dysplasia, Spondyloperipheral dysplasia,
Stickler syndrome type 1, Platyspondylic dysplasia, Torrance type, Spondyloepiphyseal dysplasia, Stanescu type,
...see more		Benign/Likely benign
(Oct 28, 2022)		criteria provided, multiple submitters, no conflicts
50.
GRCh37:
Chr12:48387611
GRCh38:
Chr12:47993828
COL2A1A302V, A233VAbnormality of the skeletal system, Spondyloepimetaphyseal dysplasia, Strudwick type, Spondyloepiphyseal dysplasia congenita,
Namaqualand hip dysplasia, Spondylometaphyseal dysplasia - Sutcliffe type, Multiple epiphyseal dysplasia, Beighton type,
Legg-Calve-Perthes disease, Spondyloepiphyseal dysplasia congenita, Vitreoretinopathy with phalangeal epiphyseal dysplasia,
Czech dysplasia, metatarsal type, Spondyloperipheral dysplasiaStickler syndrome, type I, nonsyndromic ocular,
Avascular necrosis of femoral head, primary, 1, Spondyloepimetaphyseal dysplasia, Strudwick type, Kniest dysplasia,
Achondrogenesis type II, Stickler syndrome type 1, Platyspondylic dysplasia, Torrance type,
Spondyloepiphyseal dysplasia, Stanescu type, not provided, Type II Collagenopathies,
...see more		Pathogenic/Likely pathogenic
(Jul 1, 2023)		criteria provided, multiple submitters, no conflicts
51.
GRCh37:
Chr12:48383028
GRCh38:
Chr12:47989245
COL2A1G369R, G300Rnot provided, Spondyloepiphyseal dysplasia congenitaPathogenic
(Sep 2, 2022)		criteria provided, multiple submitters, no conflicts
52.
GRCh37:
ChrX:13732262-13732263
GRCh38:
ChrX:13714143-13714144
TRAPPC2not provided, Spondyloepiphyseal dysplasia congenitaConflicting interpretations of pathogenicity
(Oct 5, 2019)		criteria provided, conflicting interpretations
53.
GRCh37:
ChrX:13732259-13732260
GRCh38:
ChrX:13714140-13714141
TRAPPC2Spondyloepiphyseal dysplasia congenitaUncertain significance
(Jun 14, 2016)		criteria provided, single submitter
54.
GRCh37:
ChrX:13731569-13731570
GRCh38:
ChrX:13713450-13713451
TRAPPC2Spondyloepiphyseal dysplasia congenitaBenign
(Jun 14, 2016)		criteria provided, single submitter
55.
GRCh37:
ChrX:13731569-13731570
GRCh38:
ChrX:13713450-13713451
TRAPPC2Spondyloepiphyseal dysplasia congenitaUncertain significance
(Jun 14, 2016)		criteria provided, single submitter
56.
GRCh37:
ChrX:13731569-13731570
GRCh38:
ChrX:13713450-13713451
TRAPPC2Spondyloepiphyseal dysplasia congenitaUncertain significance
(Jun 14, 2016)		criteria provided, single submitter
57.
GRCh37:
ChrX:13731568-13731569
GRCh38:
ChrX:13713449-13713450
TRAPPC2Spondyloepiphyseal dysplasia congenitaUncertain significance
(Jun 14, 2016)		criteria provided, single submitter
58.
GRCh37:
ChrX:13731223
GRCh38:
ChrX:13713104
TRAPPC2Spondyloepiphyseal dysplasia congenitaBenign
(Jun 14, 2016)		criteria provided, single submitter
59.
GRCh37:
ChrX:13730677-13730678
GRCh38:
ChrX:13712558-13712559
TRAPPC2Spondyloepiphyseal dysplasia congenitaLikely benign
(Jun 14, 2016)		criteria provided, single submitter
60.
GRCh37:
ChrX:13730416-13730417
GRCh38:
ChrX:13712297-13712298
TRAPPC2Spondyloepiphyseal dysplasia congenitaBenign
(Jun 14, 2016)		criteria provided, single submitter
61.
GRCh37:
Chr12:48388220
GRCh38:
Chr12:47994437
COL2A1P268L, P199LMultiple epiphyseal dysplasia, Beighton type, Kniest dysplasia, Achondrogenesis type II,
Czech dysplasia, metatarsal type, Namaqualand hip dysplasia, Spondyloepiphyseal dysplasia, Stanescu type,
Avascular necrosis of femoral head, primary, 1, Stickler syndrome, type I, nonsyndromic ocular, Legg-Calve-Perthes disease,
Spondyloperipheral dysplasia, Stickler syndrome type 1Platyspondylic dysplasia, Torrance type,
Spondylometaphyseal dysplasia, Spondyloepiphyseal dysplasia congenita, not provided,
Stickler syndrome type 1, Type II Collagenopathies, ...see more		Conflicting interpretations of pathogenicity
(Oct 10, 2022)		criteria provided, conflicting interpretations
62.
GRCh37:
Chr12:48376733
GRCh38:
Chr12:47982950
COL2A1Achondrogenesis type II, Legg-Calve-Perthes disease, Stickler syndrome type 1,
Platyspondylic dysplasia, Torrance type, Spondylometaphyseal dysplasia - Sutcliffe type, Spondyloepiphyseal dysplasia congenita,
Stickler syndrome, type I, nonsyndromic ocular, Spondyloepimetaphyseal dysplasia, Strudwick type, Avascular necrosis of femoral head, primary, 1,
Kniest dysplasia, Namaqualand hip dysplasiaMultiple epiphyseal dysplasia, Beighton type,
Spondyloperipheral dysplasia, Czech dysplasia, metatarsal type, Spondyloepiphyseal dysplasia, Stanescu type,
Vitreoretinopathy with phalangeal epiphyseal dysplasia, Connective tissue disorder, not specified,
Stickler syndrome type 1, not provided, Type II Collagenopathies,
...see more		Benign/Likely benign
(Apr 1, 2023)		criteria provided, multiple submitters, no conflicts
63.
GRCh37:
Chr10:73773113
GRCh38:
Chr10:72013355
CHST3Skeletal dysplasia, Larsen syndrome, Spondyloepiphyseal dysplasia with congenital joint dislocations,
Spondyloepiphyseal dysplasia congenita		Uncertain significance
(Jun 14, 2016)		criteria provided, single submitter
64.
GRCh37:
Chr10:73773098
GRCh38:
Chr10:72013340
CHST3Skeletal dysplasia, Larsen syndrome, Spondyloepiphyseal dysplasia with congenital joint dislocations,
Spondyloepiphyseal dysplasia congenita		Uncertain significance
(Jun 14, 2016)		criteria provided, single submitter
65.
GRCh37:
Chr10:73773094
GRCh38:
Chr10:72013336
CHST3Skeletal dysplasia, Spondyloepiphyseal dysplasia congenita, Spondyloepiphyseal dysplasia with congenital joint dislocations,
Larsen syndrome		Uncertain significance
(Jun 14, 2016)		criteria provided, single submitter
66.
GRCh37:
Chr10:73773050
GRCh38:
Chr10:72013292
CHST3Skeletal dysplasia, Spondyloepiphyseal dysplasia congenita, Spondyloepiphyseal dysplasia with congenital joint dislocations,
Larsen syndrome		Uncertain significance
(Jun 14, 2016)		criteria provided, single submitter
67.
GRCh37:
Chr10:73773049
GRCh38:
Chr10:72013291
CHST3Skeletal dysplasia, Spondyloepiphyseal dysplasia with congenital joint dislocations, Spondyloepiphyseal dysplasia congenita,
Larsen syndrome		Uncertain significance
(Jun 14, 2016)		criteria provided, single submitter
68.
GRCh37:
Chr10:73773014
GRCh38:
Chr10:72013256
CHST3Skeletal dysplasia, Spondyloepiphyseal dysplasia with congenital joint dislocations, Spondyloepiphyseal dysplasia congenita,
Larsen syndrome		Benign
(Jun 14, 2016)		criteria provided, single submitter
69.
GRCh37:
Chr10:73772999
GRCh38:
Chr10:72013241
CHST3Skeletal dysplasia, Spondyloepiphyseal dysplasia with congenital joint dislocations, Spondyloepiphyseal dysplasia congenita,
Larsen syndrome		Likely benign
(Jun 14, 2016)		criteria provided, single submitter
70.
GRCh37:
Chr10:73772857
GRCh38:
Chr10:72013099
CHST3Skeletal dysplasia, Spondyloepiphyseal dysplasia with congenital joint dislocations, Spondyloepiphyseal dysplasia congenita,
Larsen syndrome		Uncertain significance
(Jun 14, 2016)		criteria provided, single submitter
71.
GRCh37:
Chr10:73772838
GRCh38:
Chr10:72013080
CHST3Skeletal dysplasia, Larsen syndrome, Spondyloepiphyseal dysplasia with congenital joint dislocations,
Spondyloepiphyseal dysplasia congenita		Uncertain significance
(Jun 14, 2016)		criteria provided, single submitter
72.
GRCh37:
Chr10:73772763
GRCh38:
Chr10:72013005
CHST3Skeletal dysplasia, Larsen syndrome, Spondyloepiphyseal dysplasia with congenital joint dislocations,
Spondyloepiphyseal dysplasia congenita		Uncertain significance
(Jun 14, 2016)		criteria provided, single submitter
73.
GRCh37:
Chr10:73772762
GRCh38:
Chr10:72013004
CHST3Skeletal dysplasia, Larsen syndrome, Spondyloepiphyseal dysplasia with congenital joint dislocations,
Spondyloepiphyseal dysplasia congenita		Benign
(Jun 14, 2016)		criteria provided, single submitter
74.
GRCh37:
Chr10:73772727
GRCh38:
Chr10:72012969
CHST3Skeletal dysplasia, Larsen syndrome, Spondyloepiphyseal dysplasia with congenital joint dislocations,
Spondyloepiphyseal dysplasia congenita		Uncertain significance
(Jun 14, 2016)		criteria provided, single submitter
75.
GRCh37:
Chr10:73772724
GRCh38:
Chr10:72012966
CHST3Skeletal dysplasia, Larsen syndrome, Spondyloepiphyseal dysplasia with congenital joint dislocations,
Spondyloepiphyseal dysplasia congenita		Uncertain significance
(Jun 14, 2016)		criteria provided, single submitter
76.
GRCh37:
Chr10:73772679
GRCh38:
Chr10:72012921
CHST3Skeletal dysplasia, Spondyloepiphyseal dysplasia with congenital joint dislocations, Spondyloepiphyseal dysplasia congenita,
Larsen syndrome		Uncertain significance
(Jun 14, 2016)		criteria provided, single submitter
77.
GRCh37:
Chr10:73772661
GRCh38:
Chr10:72012903
CHST3Skeletal dysplasia, Larsen syndrome, Spondyloepiphyseal dysplasia with congenital joint dislocations,
Spondyloepiphyseal dysplasia congenita		Benign
(Jun 14, 2016)		criteria provided, single submitter
78.
GRCh37:
Chr10:73772650
GRCh38:
Chr10:72012892
CHST3Skeletal dysplasia, Larsen syndrome, Spondyloepiphyseal dysplasia with congenital joint dislocations,
Spondyloepiphyseal dysplasia congenita		Benign
(Jun 14, 2016)		criteria provided, single submitter
79.
GRCh37:
Chr10:73772638
GRCh38:
Chr10:72012880
CHST3Skeletal dysplasia, Larsen syndrome, Spondyloepiphyseal dysplasia with congenital joint dislocations,
Spondyloepiphyseal dysplasia congenita		Uncertain significance
(Jun 14, 2016)		criteria provided, single submitter
80.
GRCh37:
Chr10:73772570
GRCh38:
Chr10:72012812
CHST3Skeletal dysplasia, Larsen syndrome, Spondyloepiphyseal dysplasia with congenital joint dislocations,
Spondyloepiphyseal dysplasia congenita		Uncertain significance
(Jun 14, 2016)		criteria provided, single submitter
81.
GRCh37:
Chr10:73772565
GRCh38:
Chr10:72012807
CHST3Skeletal dysplasia, Larsen syndrome, Spondyloepiphyseal dysplasia with congenital joint dislocations,
Spondyloepiphyseal dysplasia congenita		Uncertain significance
(Jun 14, 2016)		criteria provided, single submitter
82.
GRCh37:
Chr10:73772439
GRCh38:
Chr10:72012681
CHST3Skeletal dysplasia, Larsen syndrome, Spondyloepiphyseal dysplasia with congenital joint dislocations,
Spondyloepiphyseal dysplasia congenita		Uncertain significance
(Jun 14, 2016)		criteria provided, single submitter
83.
GRCh37:
Chr10:73772391
GRCh38:
Chr10:72012633
CHST3Larsen syndrome, Skeletal dysplasia, Spondyloepiphyseal dysplasia congenita,
Spondyloepiphyseal dysplasia with congenital joint dislocations		Uncertain significance
(Jun 14, 2016)		criteria provided, single submitter
84.
GRCh37:
Chr10:73772336
GRCh38:
Chr10:72012578
CHST3Skeletal dysplasia, Spondyloepiphyseal dysplasia congenita, Larsen syndrome,
Spondyloepiphyseal dysplasia with congenital joint dislocations		Benign
(Jun 14, 2016)		criteria provided, single submitter
85.
GRCh37:
Chr10:73772324
GRCh38:
Chr10:72012566
CHST3Skeletal dysplasia, Spondyloepiphyseal dysplasia congenita, Larsen syndrome,
Spondyloepiphyseal dysplasia with congenital joint dislocations		Likely benign
(Jun 14, 2016)		criteria provided, single submitter
86.
GRCh37:
Chr10:73772278
GRCh38:
Chr10:72012520
CHST3Skeletal dysplasia, Spondyloepiphyseal dysplasia congenita, Larsen syndrome,
Spondyloepiphyseal dysplasia with congenital joint dislocations		Uncertain significance
(Jun 14, 2016)		criteria provided, single submitter
87.
GRCh37:
Chr10:73772216
GRCh38:
Chr10:72012458
CHST3Skeletal dysplasia, Spondyloepiphyseal dysplasia congenita, Larsen syndrome,
Spondyloepiphyseal dysplasia with congenital joint dislocations		Benign
(Jun 14, 2016)		criteria provided, single submitter
88.
GRCh37:
Chr10:73772161
GRCh38:
Chr10:72012403
CHST3Skeletal dysplasia, Spondyloepiphyseal dysplasia congenita, Larsen syndrome,
Spondyloepiphyseal dysplasia with congenital joint dislocations		Benign
(Jun 14, 2016)		criteria provided, single submitter
89.
GRCh37:
Chr10:73772134
GRCh38:
Chr10:72012376
CHST3Larsen syndrome, Skeletal dysplasia, Spondyloepiphyseal dysplasia congenita,
Spondyloepiphyseal dysplasia with congenital joint dislocations		Uncertain significance
(Jun 14, 2016)		criteria provided, single submitter
90.
GRCh37:
Chr10:73772119
GRCh38:
Chr10:72012361
CHST3Larsen syndrome, Skeletal dysplasia, Spondyloepiphyseal dysplasia congenita,
Spondyloepiphyseal dysplasia with congenital joint dislocations		Likely benign
(Jun 14, 2016)		criteria provided, single submitter
91.
GRCh37:
Chr10:73772113
GRCh38:
Chr10:72012355
CHST3Larsen syndrome, Skeletal dysplasia, Spondyloepiphyseal dysplasia congenita,
Spondyloepiphyseal dysplasia with congenital joint dislocations		Likely benign
(Jun 14, 2016)		criteria provided, single submitter
92.
GRCh37:
Chr10:73772086
GRCh38:
Chr10:72012328
CHST3Larsen syndrome, Skeletal dysplasia, Spondyloepiphyseal dysplasia congenita,
Spondyloepiphyseal dysplasia with congenital joint dislocations		Uncertain significance
(Jun 14, 2016)		criteria provided, single submitter
93.
GRCh37:
Chr10:73772014
GRCh38:
Chr10:72012256
CHST3Larsen syndrome, Skeletal dysplasia, Spondyloepiphyseal dysplasia congenita,
Spondyloepiphyseal dysplasia with congenital joint dislocations		Benign
(Jun 14, 2016)		criteria provided, single submitter
94.
GRCh37:
Chr10:73771930-73771931
GRCh38:
Chr10:72012172-72012173
CHST3Larsen syndrome, Skeletal dysplasia, Spondyloepiphyseal dysplasia congenita,
Spondyloepiphyseal dysplasia with congenital joint dislocations		Likely benign
(Jun 14, 2016)		criteria provided, single submitter
95.
GRCh37:
Chr10:73771895
GRCh38:
Chr10:72012137
CHST3Skeletal dysplasia, Larsen syndrome, Spondyloepiphyseal dysplasia congenita,
Spondyloepiphyseal dysplasia with congenital joint dislocations		Likely benign
(Jun 14, 2016)		criteria provided, single submitter
96.
GRCh37:
Chr10:73771800
GRCh38:
Chr10:72012042
CHST3Skeletal dysplasia, Larsen syndrome, Spondyloepiphyseal dysplasia congenita,
Spondyloepiphyseal dysplasia with congenital joint dislocations		Uncertain significance
(Jun 14, 2016)		criteria provided, single submitter
97.
GRCh37:
Chr10:73771794
GRCh38:
Chr10:72012036
CHST3Skeletal dysplasia, Larsen syndrome, Spondyloepiphyseal dysplasia congenita,
Spondyloepiphyseal dysplasia with congenital joint dislocations		Uncertain significance
(Jun 14, 2016)		criteria provided, single submitter
98.
GRCh37:
Chr10:73771784
GRCh38:
Chr10:72012026
CHST3Skeletal dysplasia, Larsen syndrome, Spondyloepiphyseal dysplasia congenita,
Spondyloepiphyseal dysplasia with congenital joint dislocations		Likely benign
(Jun 14, 2016)		criteria provided, single submitter
99.
GRCh37:
Chr10:73771706
GRCh38:
Chr10:72011948
CHST3Skeletal dysplasia, Larsen syndrome, Spondyloepiphyseal dysplasia congenita,
Spondyloepiphyseal dysplasia with congenital joint dislocations		Benign
(Jun 14, 2016)		criteria provided, single submitter
100.
GRCh37:
Chr10:73771674
GRCh38:
Chr10:72011916
CHST3Larsen syndrome, Skeletal dysplasia, Spondyloepiphyseal dysplasia congenita,
Spondyloepiphyseal dysplasia with congenital joint dislocations		Uncertain significance
(Jun 14, 2016)		criteria provided, single submitter
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