ClinVar for MedGen (Select 481972) - ClinVar - NCBI

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Items: 17

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 14988901.	NM_001852.4(COL9A2):c.749G>C (p.Gly250Ala) GRCh37: Chr1:40775826 GRCh38: Chr1:40310154	COL9A2	G250A	not provided, Epiphyseal dysplasia, multiple, 2, Stickler syndrome, type 5	Uncertain significance (Oct 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 12099142.	NM_001852.4(COL9A2):c.1982C>G (p.Pro661Arg) GRCh37: Chr1:40766942 GRCh38: Chr1:40301270	COL9A2	P661R	Epiphyseal dysplasia, multiple, 2, Stickler syndrome, type 5, not provided	Uncertain significance (Sep 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 11678003.	NM_001852.4(COL9A2):c.1604-26CTCC[7] GRCh37: Chr1:40768483-40768484 GRCh38: Chr1:40302811-40302812	COL9A2		Connective tissue disorder, Epiphyseal dysplasia, multiple, 2, Stickler syndrome, type 5, not provided	Benign (Oct 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 10073114.	NM_001852.4(COL9A2):c.1485del (p.Gly496fs) GRCh37: Chr1:40769265 GRCh38: Chr1:40303593	COL9A2	G496fs	not provided, Epiphyseal dysplasia, multiple, 2, Stickler syndrome, type 5	Conflicting interpretations of pathogenicity (Jul 30, 2022)	criteria provided, conflicting interpretations
Select item 6896065.	NM_001852.4(COL9A2):c.1237C>T (p.Pro413Ser) GRCh37: Chr1:40770042 GRCh38: Chr1:40304370	COL9A2	P413S	Epiphyseal dysplasia, multiple, 2, not provided, Stickler syndrome, type 5	Benign/Likely benign (Sep 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 6321066.	NM_001852.4(COL9A2):c.1242del (p.Gly415fs) GRCh37: Chr1:40770037 GRCh38: Chr1:40304365	COL9A2	G415fs	not provided, Stickler syndrome, type 5	Conflicting interpretations of pathogenicity (Mar 8, 2023)	criteria provided, conflicting interpretations
Select item 5479397.	NM_001852.4(COL9A2):c.458C>T (p.Pro153Leu) GRCh37: Chr1:40777347 GRCh38: Chr1:40311675	COL9A2	P153L	not provided, Epiphyseal dysplasia, multiple, 2, Epiphyseal dysplasia, multiple, 2, Stickler syndrome, type 5, not specified	Conflicting interpretations of pathogenicity (Oct 18, 2022)	criteria provided, conflicting interpretations
Select item 4179008.	NM_001852.4(COL9A2):c.2059A>G (p.Lys687Glu) GRCh37: Chr1:40766865 GRCh38: Chr1:40301193	COL9A2	K687E	not provided, Epiphyseal dysplasia, multiple, 2	Conflicting interpretations of pathogenicity (Sep 1, 2022)	criteria provided, conflicting interpretations
Select item 2973029.	NM_001852.4(COL9A2):c.1123C>G (p.Arg375Gly) GRCh37: Chr1:40770504 GRCh38: Chr1:40304832	COL9A2	R375G	not provided, Inborn genetic diseases, Epiphyseal dysplasia, multiple, 2	Conflicting interpretations of pathogenicity (Oct 26, 2022)	criteria provided, conflicting interpretations
Select item 29729710.	NM_001852.4(COL9A2):c.1400A>G (p.Gln467Arg) GRCh37: Chr1:40769480 GRCh38: Chr1:40303808	COL9A2	Q467R	not provided, Stickler syndrome, type 5, Epiphyseal dysplasia, multiple, 2, not specified, Epiphyseal dysplasia, multiple, 2	Conflicting interpretations of pathogenicity (Oct 5, 2022)	criteria provided, conflicting interpretations
Select item 29729311.	NM_001852.4(COL9A2):c.1732C>G (p.Pro578Ala) GRCh37: Chr1:40768353 GRCh38: Chr1:40302681	COL9A2	P578A	not provided, Stickler syndrome, type 5, Epiphyseal dysplasia, multiple, 2, Epiphyseal dysplasia, multiple, 2	Uncertain significance (Jul 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 28351712.	NM_001852.4(COL9A2):c.1219C>A (p.Pro407Thr) GRCh37: Chr1:40770060 GRCh38: Chr1:40304388	COL9A2	P407T	Stickler syndrome, type 5, Epiphyseal dysplasia, multiple, 2, not provided	Uncertain significance (Jun 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 28280513.	NM_001852.4(COL9A2):c.919G>A (p.Gly307Ser) GRCh37: Chr1:40773410 GRCh38: Chr1:40307738	COL9A2	G307S	not provided, Epiphyseal dysplasia, multiple, 2, Stickler syndrome, type 5, Epiphyseal dysplasia, multiple, 2	Uncertain significance (Mar 20, 2023)	criteria provided, multiple submitters, no conflicts
Select item 25838014.	NM_001852.4(COL9A2):c.1871-8G>T GRCh37: Chr1:40767061 GRCh38: Chr1:40301389	COL9A2		Epiphyseal dysplasia, multiple, 2, Stickler syndrome, type 5, not provided, not specified	Likely benign (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 25837115.	NM_001852.4(COL9A2):c.1323+18T>G GRCh37: Chr1:40769718 GRCh38: Chr1:40304046	COL9A2		Epiphyseal dysplasia, multiple, 2, Stickler syndrome, type 5, not specified, not provided	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 19616916.	NM_001852.4(COL9A2):c.1576G>A (p.Val526Met) GRCh37: Chr1:40768830 GRCh38: Chr1:40303158	COL9A2	V526M	not provided, Stickler syndrome, type 5	Conflicting interpretations of pathogenicity (Oct 17, 2022)	criteria provided, conflicting interpretations
Select item 2964517.	NM_001852.4(COL9A2):c.843_846+4del GRCh37: Chr1:40775606-40775613 GRCh38: Chr1:40309934-40309941	COL9A2		Stickler syndrome, type 5	Pathogenic (Jul 1, 2011)	no assertion criteria provided