ClinVar for MedGen (Select 120521) - ClinVar - NCBI

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Items: 14

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 16834561.	NM_001853.4(COL9A3):c.1729C>T (p.Arg577Ter) GRCh37: Chr20:61468560 GRCh38: Chr20:62837208	COL9A3	R577*	Epiphyseal dysplasia, multiple, 3, Intervertebral disc disorder, Stickler syndrome, not provided	Pathogenic/Likely pathogenic (Sep 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 16834552.	NM_001853.4(COL9A3):c.268C>T (p.Arg90Ter) GRCh37: Chr20:61451293 GRCh38: Chr20:62819941	COL9A3	R90*	Stickler syndrome, not provided	Pathogenic (Aug 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 10649703.	NM_001384474.1(LOXHD1):c.2308G>A (p.Val770Ile) GRCh37: Chr18:44146349 GRCh38: Chr18:46566386	LOXHD1	V770I	not provided, Inborn genetic diseases, Stickler syndrome	Conflicting interpretations of pathogenicity (Oct 4, 2022)	criteria provided, conflicting interpretations
Select item 10649324.	NM_001852.4(COL9A2):c.1510C>T (p.Arg504Ter) GRCh37: Chr1:40769240 GRCh38: Chr1:40303568	COL9A2	R504*	Stickler syndrome	Likely pathogenic (Apr 12, 2021)	criteria provided, single submitter
Select item 10649315.	NM_001844.5(COL2A1):c.1364C>T (p.Thr455Met) GRCh37: Chr12:48380862 GRCh38: Chr12:47987079	COL2A1	T386M, T455M	not provided, Stickler syndrome	Conflicting interpretations of pathogenicity (Jul 12, 2022)	criteria provided, conflicting interpretations
Select item 10582046.	NM_022124.6(CDH23):c.5989G>A (p.Val1997Met) GRCh37: Chr10:73550110 GRCh38: Chr10:71790353	CDH23	V1997M	Stickler syndrome, not provided	Uncertain significance (Jun 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 6674027.	NM_001844.5(COL2A1):c.1681-2_1681-1del GRCh37: Chr12:48379371-48379372 GRCh38: Chr12:47985588-47985589	COL2A1		Stickler syndrome	Likely pathogenic (Nov 12, 2018)	criteria provided, single submitter
Select item 6351658.	NM_001852.4(COL9A2):c.1774G>A (p.Gly592Ser) GRCh37: Chr1:40768311 GRCh38: Chr1:40302639	COL9A2	G592S	not provided	Uncertain significance (Nov 22, 2021)	criteria provided, single submitter
Select item 6318479.	NM_000091.5(COL4A3):c.3440C>T (p.Ser1147Phe) GRCh37: Chr2:228159701 GRCh38: Chr2:227294985	COL4A3, MFF-DT	S1147F	not provided, COL4A3-Related Disorders, Stickler syndrome	Uncertain significance (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 62414110.	NM_032603.5(LOXL3):c.1330_1332del (p.Leu444del) GRCh37: Chr2:74762799-74762801 GRCh38: Chr2:74535672-74535674	LOXL3	L299del, L83del, L444del	Stickler syndrome, not provided	Conflicting interpretations of pathogenicity (Aug 16, 2022)	criteria provided, conflicting interpretations
Select item 45138111.	NM_001378454.1(ALMS1):c.6772del (p.Thr2258fs) GRCh37: Chr2:73680423 GRCh38: Chr2:73453296	ALMS1	T2259fs, T2258fs	Stickler syndrome, not provided, Alstrom syndrome	Pathogenic/Likely pathogenic (Apr 12, 2021)	criteria provided, multiple submitters, no conflicts
Select item 37279212.	NM_001854.4(COL11A1):c.1630-2del GRCh37: Chr1:103474074 GRCh38: Chr1:103008518	COL11A1		Stickler syndrome type 2, not provided, Stickler syndrome	Pathogenic (Dec 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 16204113.	NM_001844.5(COL2A1):c.1191_1199dup (p.Ser400_Gly402dup) GRCh37: Chr12:48381415-48381416 GRCh38: Chr12:47987632-47987633	COL2A1		Stickler syndrome	Pathogenic	no assertion criteria provided
Select item 16204014.	NM_001844.5(COL2A1):c.3357_3358insCT (p.Glu1120fs) GRCh37: Chr12:48370672-48370673 GRCh38: Chr12:47976889-47976890	COL2A1	E1051fs, E1120fs	Stickler syndrome	Pathogenic (Jan 5, 2012)	no assertion criteria provided