C0432215[trait identifier] AND "Women's Health and Genetics/Laboratory - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2445700	NM_198239.2(CCN6):c.40_44del (p.Leu14fs)	CCN6 (L14fs)	Microsatellite (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
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 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 637051	NM_198239.2(CCN6):c.589G>C (p.Ala197Pro)	CCN6 (A197P +1 more)	Single nucleotide variant (missense variant +1 more)	Progressive pseudorheumatoid dysplasia +1 more	GPathogenic/Likely pathogenic
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 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 2504003	NM_198239.2(CCN6):c.897C>A (p.Cys299Ter)	CCN6 (C299*)	Single nucleotide variant (nonsense +1 more)	Progressive pseudorheumatoid dysplasia	GLikely pathogenic

ClinVar