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Links from MedGen

Items: 14

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr20:61468560
GRCh38:
Chr20:62837208
COL9A3R577*Epiphyseal dysplasia, multiple, 3, Intervertebral disc disorder, Stickler syndrome,
not provided
Pathogenic/Likely pathogenic
(Sep 21, 2022)
criteria provided, multiple submitters, no conflicts
2.
GRCh37:
Chr20:61451293
GRCh38:
Chr20:62819941
COL9A3R90*Stickler syndrome, not providedPathogenic
(Aug 1, 2022)
criteria provided, multiple submitters, no conflicts
3.
GRCh37:
Chr18:44146349
GRCh38:
Chr18:46566386
LOXHD1V770Inot provided, Inborn genetic diseases, Stickler syndrome
Conflicting interpretations of pathogenicity
(Oct 4, 2022)
criteria provided, conflicting interpretations
4.
GRCh37:
Chr1:40769240
GRCh38:
Chr1:40303568
COL9A2R504*Stickler syndromeLikely pathogenic
(Apr 12, 2021)
criteria provided, single submitter
5.
GRCh37:
Chr12:48380862
GRCh38:
Chr12:47987079
COL2A1T386M, T455Mnot provided, Stickler syndromeConflicting interpretations of pathogenicity
(Jul 12, 2022)
criteria provided, conflicting interpretations
6.
GRCh37:
Chr10:73550110
GRCh38:
Chr10:71790353
CDH23V1997MStickler syndrome, not providedUncertain significance
(Jun 27, 2022)
criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr12:48379371-48379372
GRCh38:
Chr12:47985588-47985589
COL2A1Stickler syndromeLikely pathogenic
(Nov 12, 2018)
criteria provided, single submitter
8.
GRCh37:
Chr1:40768311
GRCh38:
Chr1:40302639
COL9A2G592Snot providedUncertain significance
(Nov 22, 2021)
criteria provided, single submitter
9.
GRCh37:
Chr2:228159701
GRCh38:
Chr2:227294985
COL4A3, MFF-DTS1147Fnot provided, COL4A3-Related Disorders, Stickler syndrome
Uncertain significance
(Oct 17, 2022)
criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr2:74762799-74762801
GRCh38:
Chr2:74535672-74535674
LOXL3L299del, L83del, L444delStickler syndrome, not providedConflicting interpretations of pathogenicity
(Aug 16, 2022)
criteria provided, conflicting interpretations
11.
GRCh37:
Chr2:73680423
GRCh38:
Chr2:73453296
ALMS1T2259fs, T2258fsStickler syndrome, not provided, Alstrom syndrome
Pathogenic/Likely pathogenic
(Apr 12, 2021)
criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr1:103474074
GRCh38:
Chr1:103008518
COL11A1Stickler syndrome type 2, not provided, Stickler syndrome
Pathogenic
(Dec 21, 2022)
criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr12:48381415-48381416
GRCh38:
Chr12:47987632-47987633
COL2A1Stickler syndromePathogenicno assertion criteria provided
14.
GRCh37:
Chr12:48370672-48370673
GRCh38:
Chr12:47976889-47976890
COL2A1E1051fs, E1120fsStickler syndromePathogenic
(Jan 5, 2012)
no assertion criteria provided
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