"OMIM"[submitter] AND "CCN6"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 6386	NM_198239.2(CCN6):c.43_44del (p.Ala15fs)	CCN6 (A15fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 6384	NM_198239.2(CCN6):c.48+2dup	CCN6	Duplication (splice donor variant)	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)	Progressive pseudorheumatoid dysplasia +2 more	GPathogenic/Likely pathogenic
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 6383	NM_198239.2(CCN6):c.246del (p.Glu84fs)	CCN6 (E102fs +1 more)	Deletion (frameshift variant +1 more)	not provided +1 more	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
Select item 6389	NM_198239.2(CCN6):c.840del (p.Phe280fs)	CCN6 (F280fs)	Deletion (frameshift variant +1 more)	Progressive pseudorheumatoid dysplasia	GPathogenic
Select item 6385	NM_198239.2(CCN6):c.862_863dup (p.Gln289fs)	CCN6 (Q289fs)	Duplication (frameshift variant +1 more)	CCN6-related condition +1 more	GPathogenic
Select item 453263	NM_198239.2(CCN6):c.868_869del (p.Ser290fs)	CCN6 (S290fs)	Microsatellite (frameshift variant +1 more)	Progressive pseudorheumatoid dysplasia +1 more	GPathogenic
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 6388	NM_198239.2(CCN6):c.1000T>C (p.Ser334Pro)	CCN6 (S334P)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic