"PreventionGenetics, part of Exact Sciences"[submitter] AND "CCN6"[gen - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 711335	NM_198239.2(CCN6):c.131G>A (p.Arg44His)	CCN6 (R44H)	Single nucleotide variant (missense variant +1 more)	Progressive pseudorheumatoid dysplasia +2 more	GConflicting classifications of pathogenicity
Select item 355063	NM_198239.2(CCN6):c.237C>T (p.Ala79=)	CCN6	Single nucleotide variant (synonymous variant +1 more)	Progressive pseudorheumatoid dysplasia +2 more	GBenign
Select item 500275	NM_198239.2(CCN6):c.533A>T (p.Asn178Ile)	CCN6 (N178I)	Single nucleotide variant (missense variant +1 more)	Progressive pseudorheumatoid dysplasia +3 more	GBenign/Likely benign
Select item 1680468	NM_198239.2(CCN6):c.589+27C>T	CCN6	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 740422	NM_198239.2(CCN6):c.590-7G>C	CCN6	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 2636177	NM_198239.2(CCN6):c.621_622delinsT (p.Lys207fs)	CCN6 (K207fs)	Indel (frameshift variant +1 more)	CCN6-related condition	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 355066	NM_198239.2(CCN6):c.892A>C (p.Ile298Leu)	CCN6 (I298L)	Single nucleotide variant (missense variant +1 more)	Progressive pseudorheumatoid dysplasia +2 more	GBenign

ClinVar