"GeneDx"[submitter] AND "CCN6"[gene] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1267092	NC_000006.12:g.112053865del	CCN6	Deletion (genic upstream transcript variant)	not provided	GBenign
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 1264724	NM_198239.2(CCN6):c.48+36G>A	CCN6	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 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 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 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 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 499131	NM_198239.2(CCN6):c.310G>C (p.Val104Leu)	CCN6 (V104L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1806635	NM_198239.2(CCN6):c.334G>A (p.Gly112Arg)	CCN6 (G112R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2504660	NM_198239.2(CCN6):c.346T>A (p.Tyr116Asn)	CCN6 (Y116N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1272821	NM_198239.2(CCN6):c.346+20C>T	CCN6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262410	NM_198239.2(CCN6):c.346+60C>T	CCN6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251500	NM_198239.2(CCN6):c.590-131G>A	CCN6	Single nucleotide variant (intron variant)	not provided	GBenign
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 817946	NM_198239.2(CCN6):c.707del (p.Ser236fs)	CCN6 (S236fs)	Deletion (frameshift variant +1 more)	Progressive pseudorheumatoid dysplasia +1 more	GPathogenic
Select item 1269157	NM_198239.2(CCN6):c.784-87C>T	CCN6	Single nucleotide variant (intron variant)	not provided	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 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

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Items: 20