ClinVar for MedGen (Select 96581) - ClinVar

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Items: 51

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25810511.	NM_198239.2(CCN6):c.346+5G>A GRCh37: Chr6:112382496 GRCh38: Chr6:112061293	CCN6		Progressive pseudorheumatoid dysplasia	Uncertain significance	criteria provided, single submitter
Select item 25773982.	NM_198239.2(CCN6):c.296_298delinsTTA (p.Tyr99_Cys100delinsPheSer) GRCh37: Chr6:112382441-112382443 GRCh38: Chr6:112061238-112061240	CCN6		Progressive pseudorheumatoid dysplasia	Pathogenic (Jul 14, 2023)	criteria provided, single submitter
Select item 25040033.	NM_198239.2(CCN6):c.897C>A (p.Cys299Ter) GRCh37: Chr6:112390655 GRCh38: Chr6:112069452	CCN6	C299*	Progressive pseudorheumatoid dysplasia	Likely pathogenic (Apr 12, 2023)	criteria provided, single submitter
Select item 24457004.	NM_198239.2(CCN6):c.40_44del (p.Leu14fs) GRCh37: Chr6:112375595-112375599 GRCh38: Chr6:112054392-112054396	CCN6	L14fs	Progressive pseudorheumatoid dysplasia	Likely pathogenic (Feb 28, 2023)	criteria provided, single submitter
Select item 18062915.	NM_198239.2(CCN6):c.737del (p.Leu246fs) GRCh37: Chr6:112389555 GRCh38: Chr6:112068352	CCN6	L246fs	Progressive pseudorheumatoid dysplasia	Pathogenic (May 26, 2020)	criteria provided, single submitter
Select item 18047516.	NM_198239.2(CCN6):c.667T>G (p.Cys223Gly) GRCh37: Chr6:112389485 GRCh38: Chr6:112068282	CCN6	C223G	Progressive pseudorheumatoid dysplasia	Pathogenic (Nov 17, 2022)	criteria provided, single submitter
Select item 16875197.	NM_198239.2(CCN6):c.80T>A (p.Leu27Ter) GRCh37: Chr6:112382225 GRCh38: Chr6:112061022	CCN6	L27*	Progressive pseudorheumatoid dysplasia	Pathogenic (May 22, 2022)	criteria provided, single submitter
Select item 16856038.	NM_198239.2(CCN6):c.149G>A (p.Trp50Ter) GRCh37: Chr6:112382294 GRCh38: Chr6:112061091	CCN6	W50*	Progressive pseudorheumatoid dysplasia	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 16834809.	NM_198239.2(CCN6):c.1011_1014delinsATT (p.Cys337_Gln338delinsTer) GRCh37: Chr6:112390769-112390772 GRCh38: Chr6:112069566-112069569	CCN6		Progressive pseudorheumatoid dysplasia	Pathogenic (Apr 1, 2022)	criteria provided, single submitter
Select item 132377110.	NM_198239.2(CCN6):c.626_627del (p.Cys209fs) GRCh37: Chr6:112389443-112389444 GRCh38: Chr6:112068240-112068241	CCN6	C209fs	Progressive pseudorheumatoid dysplasia	Pathogenic (Mar 27, 2020)	criteria provided, single submitter
Select item 107187411.	NM_198239.2(CCN6):c.624dup (p.Cys209fs) GRCh37: Chr6:112389433-112389434 GRCh38: Chr6:112068230-112068231	CCN6	C209fs	not provided, Progressive pseudorheumatoid dysplasia	Pathogenic (Apr 20, 2023)	criteria provided, multiple submitters, no conflicts
Select item 103072012.	NM_198239.2(CCN6):c.29T>C (p.Leu10Pro) GRCh37: Chr6:112375589 GRCh38: Chr6:112054386	CCN6	L10P	Progressive pseudorheumatoid dysplasia	Uncertain significance (Jul 14, 2019)	criteria provided, single submitter
Select item 90372713.	NM_198239.2(CCN6):c.783+14A>G GRCh37: Chr6:112389615 GRCh38: Chr6:112068412	CCN6		Progressive pseudorheumatoid dysplasia	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90372614.	NM_198239.2(CCN6):c.757G>A (p.Asp253Asn) GRCh37: Chr6:112389575 GRCh38: Chr6:112068372	CCN6	D253N	not provided, Progressive pseudorheumatoid dysplasia	Uncertain significance (Sep 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 90372515.	NM_198239.2(CCN6):c.535T>G (p.Cys179Gly) GRCh37: Chr6:112386146 GRCh38: Chr6:112064943	CCN6	C179G	not provided, Progressive pseudorheumatoid dysplasia	Uncertain significance (Aug 28, 2021)	criteria provided, multiple submitters, no conflicts
Select item 86915116.	NM_198239.2(CCN6):c.799dup (p.Thr267fs) GRCh37: Chr6:112390552-112390553 GRCh38: Chr6:112069349-112069350	CCN6	T267fs	Progressive pseudorheumatoid dysplasia	Pathogenic (Nov 29, 2019)	criteria provided, single submitter
Select item 82811217.	NM_198239.2(CCN6):c.648G>T (p.Trp216Cys) GRCh37: Chr6:112389466 GRCh38: Chr6:112068263	CCN6	W216C	Progressive pseudorheumatoid dysplasia	Uncertain significance (Feb 5, 2020)	no assertion criteria provided
Select item 81794618.	NM_198239.2(CCN6):c.707del (p.Ser236fs) GRCh37: Chr6:112389525 GRCh38: Chr6:112068322	CCN6	S236fs	not provided, Progressive pseudorheumatoid dysplasia	Pathogenic (Apr 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 77614619.	NM_198239.2(CCN6):c.366C>T (p.Cys122=) GRCh37: Chr6:112385977 GRCh38: Chr6:112064774	CCN6		not provided, Progressive pseudorheumatoid dysplasia	Benign (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 71133520.	NM_198239.2(CCN6):c.131G>A (p.Arg44His) GRCh37: Chr6:112382276 GRCh38: Chr6:112061073	CCN6	R44H	Progressive pseudorheumatoid dysplasia, not provided	Conflicting interpretations of pathogenicity (Nov 3, 2022)	criteria provided, conflicting interpretations
Select item 63829521.	NM_198239.2(CCN6):c.248G>A (p.Gly83Glu) GRCh37: Chr6:112382393 GRCh38: Chr6:112061190	CCN6	G83E	Progressive pseudorheumatoid dysplasia, not provided	Benign/Likely benign (Aug 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 63705122.	NM_198239.2(CCN6):c.589G>C (p.Ala197Pro) GRCh37: Chr6:112386200 GRCh38: Chr6:112064997	CCN6	A197P, A215P	Progressive pseudorheumatoid dysplasia	Pathogenic/Likely pathogenic (May 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 63196923.	NM_198239.2(CCN6):c.233G>A (p.Cys78Tyr) GRCh37: Chr6:112382378 GRCh38: Chr6:112061175	CCN6	C78Y	Progressive pseudorheumatoid dysplasia	Conflicting interpretations of pathogenicity (Jul 14, 2019)	criteria provided, conflicting interpretations
Select item 62756724.	NM_198239.2(CCN6):c.692del (p.Val231fs) GRCh37: Chr6:112389510 GRCh38: Chr6:112068307	CCN6	V231fs	Progressive pseudorheumatoid dysplasia	Pathogenic (Jul 18, 2018)	no assertion criteria provided
Select item 52195525.	NM_198239.2(CCN6):c.1010G>A (p.Cys337Tyr) GRCh37: Chr6:112390768 GRCh38: Chr6:112069565	CCN6	C337Y	Progressive pseudorheumatoid dysplasia, Inborn genetic diseases	Pathogenic/Likely pathogenic (May 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 45326326.	NM_198239.2(CCN6):c.868_869del (p.Ser290fs) GRCh37: Chr6:112390624-112390625 GRCh38: Chr6:112069421-112069422	CCN6	S290fs	Progressive pseudorheumatoid dysplasia, not provided	Pathogenic (Mar 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35506627.	NM_198239.2(CCN6):c.892A>C (p.Ile298Leu) GRCh37: Chr6:112390650 GRCh38: Chr6:112069447	CCN6	I298L	Progressive pseudorheumatoid dysplasia, not provided	Benign (Oct 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35506528.	NM_198239.2(CCN6):c.807A>G (p.Gln269=) GRCh37: Chr6:112390565 GRCh38: Chr6:112069362	CCN6		Progressive pseudorheumatoid dysplasia, not provided	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35506429.	NM_198239.2(CCN6):c.327C>T (p.Tyr109=) GRCh37: Chr6:112382472 GRCh38: Chr6:112061269	CCN6		Progressive pseudorheumatoid dysplasia, not provided	Benign/Likely benign (Oct 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35506330.	NM_198239.2(CCN6):c.237C>T (p.Ala79=) GRCh37: Chr6:112382382 GRCh38: Chr6:112061179	CCN6		Progressive pseudorheumatoid dysplasia, not provided	Benign (Nov 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35506231.	NM_198239.2(CCN6):c.183C>T (p.Cys61=) GRCh37: Chr6:112382328 GRCh38: Chr6:112061125	CCN6		Progressive pseudorheumatoid dysplasia	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 35506132.	NM_198239.2(CCN6):c.178C>T (p.Arg60Cys) GRCh37: Chr6:112382323 GRCh38: Chr6:112061120	CCN6	R60C	Progressive pseudorheumatoid dysplasia, not provided	Benign (Oct 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35506033.	NM_198239.2(CCN6):c.168G>T (p.Gln56His) GRCh37: Chr6:112382313 GRCh38: Chr6:112061110	CCN6	Q56H	Progressive pseudorheumatoid dysplasia, not provided	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35505934.	NM_198239.2(CCN6):c.91C>A (p.Pro31Thr) GRCh37: Chr6:112382236 GRCh38: Chr6:112061033	CCN6	P31T	not specified, not provided, Progressive pseudorheumatoid dysplasia	Likely benign (Jun 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 35505835.	NM_198239.2(CCN6):c.78A>T (p.Pro26=) GRCh37: Chr6:112382223 GRCh38: Chr6:112061020	CCN6		Progressive pseudorheumatoid dysplasia, not provided	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35505736.	NM_198239.2(CCN6):c.77C>T (p.Pro26Leu) GRCh37: Chr6:112382222 GRCh38: Chr6:112061019	CCN6	P26L	not specified, not provided, Progressive pseudorheumatoid dysplasia	Likely benign (Jun 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 35505637.	NM_198239.2(CCN6):c.72T>C (p.Thr24=) GRCh37: Chr6:112382217 GRCh38: Chr6:112061014	CCN6		not provided, Progressive pseudorheumatoid dysplasia	Benign (Oct 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35505538.	NM_198239.2(CCN6):c.48+13C>T GRCh37: Chr6:112375621 GRCh38: Chr6:112054418	CCN6		Progressive pseudorheumatoid dysplasia	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35505439.	NM_198239.2(CCN6):c.-254A>G GRCh37: Chr6:112375307 GRCh38: Chr6:112054104	CCN6		Progressive pseudorheumatoid dysplasia, not provided	Benign (Nov 12, 2018)	criteria provided, multiple submitters, no conflicts
Select item 25245140.	NM_198239.2(CCN6):c.589+1G>A GRCh37: Chr6:112386201 GRCh38: Chr6:112064998	CCN6		Progressive pseudorheumatoid dysplasia	Pathogenic	criteria provided, single submitter
Select item 16661541.	NM_198239.2(CCN6):c.740_741del (p.Cys247fs) GRCh37: Chr6:112389555-112389556 GRCh38: Chr6:112068352-112068353	CCN6	C247fs	Progressive pseudorheumatoid dysplasia	Pathogenic/Likely pathogenic (Sep 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 638942.	NM_198239.2(CCN6):c.840del (p.Phe280fs) GRCh37: Chr6:112390596 GRCh38: Chr6:112069393	CCN6	F280fs	Progressive pseudorheumatoid dysplasia	Pathogenic (Oct 7, 2020)	no assertion criteria provided
Select item 638843.	NM_198239.2(CCN6):c.1000T>C (p.Ser334Pro) GRCh37: Chr6:112390758 GRCh38: Chr6:112069555	CCN6	S334P	Progressive pseudorheumatoid dysplasia	Pathogenic (Oct 7, 2020)	no assertion criteria provided
Select item 638644.	NM_198239.2(CCN6):c.43_44del (p.Ala15fs) GRCh37: Chr6:112375603-112375604 GRCh38: Chr6:112054400-112054401	CCN6	A15fs	Progressive pseudorheumatoid dysplasia	Pathogenic (Sep 1, 1999)	no assertion criteria provided
Select item 638545.	NM_198239.2(CCN6):c.862_863dup (p.Gln289fs) GRCh37: Chr6:112390619-112390620 GRCh38: Chr6:112069416-112069417	CCN6	Q289fs	CCN6-related condition, not provided	Pathogenic (Sep 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 638446.	NM_198239.2(CCN6):c.48+2dup GRCh37: Chr6:112375609-112375610 GRCh38: Chr6:112054406-112054407	CCN6		Progressive pseudorheumatoid dysplasia	Pathogenic (Sep 1, 1999)	no assertion criteria provided
Select item 638347.	NM_198239.2(CCN6):c.246del (p.Glu84fs) GRCh37: Chr6:112382391 GRCh38: Chr6:112061188	CCN6	E102fs, E84fs	not provided, Progressive pseudorheumatoid dysplasia	Pathogenic (Mar 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 638248.	NM_198239.2(CCN6):c.232T>C (p.Cys78Arg) GRCh37: Chr6:112382377 GRCh38: Chr6:112061174	CCN6	C78R	Progressive pseudorheumatoid dysplasia	Pathogenic (Sep 1, 1999)	no assertion criteria provided
Select item 638149.	NM_198239.2(CCN6):c.156C>A (p.Cys52Ter) GRCh37: Chr6:112382301 GRCh38: Chr6:112061098	CCN6	C52, C70	not provided, Progressive pseudorheumatoid dysplasia, See cases	Pathogenic (Jun 23, 2023)	criteria provided, multiple submitters, no conflicts
Select item 638050.	NM_198239.2(CCN6):c.993G>A (p.Trp331Ter) GRCh37: Chr6:112390751 GRCh38: Chr6:112069548	CCN6	W331*	Progressive pseudorheumatoid dysplasia	Pathogenic (Sep 1, 1999)	no assertion criteria provided
Select item 637951.	NM_198239.2(CCN6):c.434G>A (p.Cys145Tyr) GRCh37: Chr6:112386045 GRCh38: Chr6:112064842	CCN6	C145Y	Progressive pseudorheumatoid dysplasia	Pathogenic (Sep 1, 1999)	no assertion criteria provided

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Items: 51