ClinVar for MedGen (Select 96581) - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3242053	NM_198239.2(CCN6):c.348C>A (p.Tyr116Ter)	CCN6 (Y116*)	Single nucleotide variant (nonsense +1 more)	Progressive pseudorheumatoid dysplasia	GLikely pathogenic
Select item 3233835	NM_198239.2(CCN6):c.737T>C (p.Leu246Pro)	CCN6 (L246P)	Single nucleotide variant (missense variant +1 more)	Progressive pseudorheumatoid dysplasia	GLikely pathogenic
Select item 2581051	NM_198239.2(CCN6):c.346+5G>A	CCN6	Single nucleotide variant (intron variant)	Progressive pseudorheumatoid dysplasia	GUncertain significance
Select item 2577398	NM_198239.2(CCN6):c.296_298delinsTTA (p.Tyr99_Cys100delinsPheSer)	CCN6	Indel (non-coding transcript variant +1 more)	Progressive pseudorheumatoid dysplasia	GPathogenic
Select item 2504003	NM_198239.2(CCN6):c.897C>A (p.Cys299Ter)	CCN6 (C299*)	Single nucleotide variant (nonsense +1 more)	Progressive pseudorheumatoid dysplasia	GLikely pathogenic
Select item 2445700	NM_198239.2(CCN6):c.40_44del (p.Leu14fs)	CCN6 (L14fs)	Microsatellite (frameshift variant +1 more)	Progressive pseudorheumatoid dysplasia +1 more	GPathogenic/Likely pathogenic
Select item 1806291	NM_198239.2(CCN6):c.737del (p.Leu246fs)	CCN6 (L246fs)	Deletion (frameshift variant +1 more)	Progressive pseudorheumatoid dysplasia	GPathogenic
Select item 1804751	NM_198239.2(CCN6):c.667T>G (p.Cys223Gly)	CCN6 (C223G)	Single nucleotide variant (missense variant +1 more)	Progressive pseudorheumatoid dysplasia +1 more	GPathogenic
Select item 1687519	NM_198239.2(CCN6):c.80T>A (p.Leu27Ter)	CCN6 (L27*)	Single nucleotide variant (nonsense +1 more)	Progressive pseudorheumatoid dysplasia	GPathogenic
Select item 1685603	NM_198239.2(CCN6):c.149G>A (p.Trp50Ter)	CCN6 (W50*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 1683480	NM_198239.2(CCN6):c.1011_1014delinsATT (p.Cys337_Gln338delinsTer)	CCN6	Indel (nonsense +1 more)	Progressive pseudorheumatoid dysplasia	GPathogenic
Select item 1323771	NM_198239.2(CCN6):c.626_627del (p.Cys209fs)	CCN6 (C209fs)	Deletion (frameshift variant +1 more)	Progressive pseudorheumatoid dysplasia	GPathogenic
Select item 1071874	NM_198239.2(CCN6):c.624dup (p.Cys209fs)	CCN6 (C209fs)	Duplication (frameshift variant +1 more)	Progressive pseudorheumatoid dysplasia +1 more	GPathogenic
Select item 1030720	NM_198239.2(CCN6):c.29T>C (p.Leu10Pro)	CCN6 (L10P)	Single nucleotide variant (missense variant +1 more)	Progressive pseudorheumatoid dysplasia	GUncertain significance
Select item 903727	NM_198239.2(CCN6):c.783+14A>G	CCN6	Single nucleotide variant (intron variant)	Progressive pseudorheumatoid dysplasia +1 more	GConflicting classifications of pathogenicity
Select item 903726	NM_198239.2(CCN6):c.757G>A (p.Asp253Asn)	CCN6 (D253N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 903725	NM_198239.2(CCN6):c.535T>G (p.Cys179Gly)	CCN6 (C179G)	Single nucleotide variant (missense variant +1 more)	Progressive pseudorheumatoid dysplasia +1 more	GUncertain significance
Select item 869151	NM_198239.2(CCN6):c.799dup (p.Thr267fs)	CCN6 (T267fs)	Duplication (frameshift variant +1 more)	Progressive pseudorheumatoid dysplasia	GPathogenic
Select item 828112	NM_198239.2(CCN6):c.648G>T (p.Trp216Cys)	CCN6 (W216C)	Single nucleotide variant (missense variant +1 more)	Progressive pseudorheumatoid dysplasia	GUncertain significance
Select item 817946	NM_198239.2(CCN6):c.707del (p.Ser236fs)	CCN6 (S236fs)	Deletion (frameshift variant +1 more)	Progressive pseudorheumatoid dysplasia +1 more	GPathogenic
Select item 776146	NM_198239.2(CCN6):c.366C>T (p.Cys122=)	CCN6	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 711335	NM_198239.2(CCN6):c.131G>A (p.Arg44His)	CCN6 (R44H)	Single nucleotide variant (missense variant +1 more)	Progressive pseudorheumatoid dysplasia +1 more	GConflicting classifications of pathogenicity
Select item 638295	NM_198239.2(CCN6):c.248G>A (p.Gly83Glu)	CCN6 (G83E)	Single nucleotide variant (missense variant +1 more)	Progressive pseudorheumatoid dysplasia +1 more	GBenign/Likely benign
Select item 637051	NM_198239.2(CCN6):c.589G>C (p.Ala197Pro)	CCN6 (A197P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 631969	NM_198239.2(CCN6):c.233G>A (p.Cys78Tyr)	CCN6 (C78Y)	Single nucleotide variant (missense variant +1 more)	Progressive pseudorheumatoid dysplasia	GConflicting classifications of pathogenicity
Select item 627567	NM_198239.2(CCN6):c.692del (p.Val231fs)	CCN6 (V231fs)	Deletion (frameshift variant +1 more)	Progressive pseudorheumatoid dysplasia	GPathogenic
Select item 521955	NM_198239.2(CCN6):c.1010G>A (p.Cys337Tyr)	CCN6 (C337Y)	Single nucleotide variant (missense variant +1 more)	Progressive pseudorheumatoid dysplasia +2 more	GPathogenic/Likely pathogenic
Select item 500275	NM_198239.2(CCN6):c.533A>T (p.Asn178Ile)	CCN6 (N178I)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 453263	NM_198239.2(CCN6):c.868_869del (p.Ser290fs)	CCN6 (S290fs)	Microsatellite (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 355066	NM_198239.2(CCN6):c.892A>C (p.Ile298Leu)	CCN6 (I298L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 355065	NM_198239.2(CCN6):c.807A>G (p.Gln269=)	CCN6	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 355064	NM_198239.2(CCN6):c.327C>T (p.Tyr109=)	CCN6	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 355063	NM_198239.2(CCN6):c.237C>T (p.Ala79=)	CCN6	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 355062	NM_198239.2(CCN6):c.183C>T (p.Cys61=)	CCN6	Single nucleotide variant (synonymous variant +1 more)	Progressive pseudorheumatoid dysplasia	GUncertain significance
Select item 355061	NM_198239.2(CCN6):c.178C>T (p.Arg60Cys)	CCN6 (R60C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 355060	NM_198239.2(CCN6):c.168G>T (p.Gln56His)	CCN6 (Q56H)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 355059	NM_198239.2(CCN6):c.91C>A (p.Pro31Thr)	CCN6 (P31T)	Single nucleotide variant (missense variant +1 more)	Progressive pseudorheumatoid dysplasia +3 more	GConflicting classifications of pathogenicity
Select item 355058	NM_198239.2(CCN6):c.78A>T (p.Pro26=)	CCN6	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 355057	NM_198239.2(CCN6):c.77C>T (p.Pro26Leu)	CCN6 (P26L)	Single nucleotide variant (missense variant +1 more)	Progressive pseudorheumatoid dysplasia +3 more	GConflicting classifications of pathogenicity
Select item 355056	NM_198239.2(CCN6):c.72T>C (p.Thr24=)	CCN6	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 355055	NM_198239.2(CCN6):c.48+13C>T	CCN6	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 355054	NM_198239.2(CCN6):c.-254A>G	CCN6	Single nucleotide variant (5 prime UTR variant +1 more)	Progressive pseudorheumatoid dysplasia +1 more	GBenign
Select item 252451	NM_198239.2(CCN6):c.589+1G>A	CCN6	Single nucleotide variant (splice donor variant)	Progressive pseudorheumatoid dysplasia	GPathogenic
Select item 166615	NM_198239.2(CCN6):c.740_741del (p.Cys247fs)	CCN6 (C247fs)	Microsatellite (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 6389	NM_198239.2(CCN6):c.840del (p.Phe280fs)	CCN6 (F280fs)	Deletion (non-coding transcript variant +1 more)	Progressive pseudorheumatoid dysplasia	GPathogenic
Select item 6388	NM_198239.2(CCN6):c.1000T>C (p.Ser334Pro)	CCN6 (S334P)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 6386	NM_198239.2(CCN6):c.43_44del (p.Ala15fs)	CCN6 (A15fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 6385	NM_198239.2(CCN6):c.862_863dup (p.Gln289fs)	CCN6 (Q289fs)	Duplication (frameshift variant +1 more)	CCN6-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 6384	NM_198239.2(CCN6):c.48+2dup	CCN6	Duplication (splice donor variant)	Progressive pseudorheumatoid dysplasia	GPathogenic
Select item 6383	NM_198239.2(CCN6):c.246del (p.Glu84fs)	CCN6 (E102fs +1 more)	Deletion (frameshift variant +1 more)	Progressive pseudorheumatoid dysplasia +1 more	GPathogenic
Select item 6382	NM_198239.2(CCN6):c.232T>C (p.Cys78Arg)	CCN6 (C78R)	Single nucleotide variant (missense variant +1 more)	Progressive pseudorheumatoid dysplasia	GPathogenic
Select item 6381	NM_198239.2(CCN6):c.156C>A (p.Cys52Ter)	CCN6 (C52* +1 more)	Single nucleotide variant (nonsense +1 more)	See cases +2 more	GPathogenic/Likely pathogenic
Select item 6380	NM_198239.2(CCN6):c.993G>A (p.Trp331Ter)	CCN6 (W331*)	Single nucleotide variant (nonsense +1 more)	Progressive pseudorheumatoid dysplasia	GPathogenic
Select item 6379	NM_198239.2(CCN6):c.434G>A (p.Cys145Tyr)	CCN6 (C145Y)	Single nucleotide variant (missense variant +1 more)	Progressive pseudorheumatoid dysplasia	GPathogenic

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Links from MedGen

Items: 54