"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "CCN6"[gene - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2583041	NM_198239.2(CCN6):c.6G>C (p.Gln2His)	CCN6 (Q2H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1335640	NM_198239.2(CCN6):c.48+229G>A	CCN6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 355057	NM_198239.2(CCN6):c.77C>T (p.Pro26Leu)	CCN6 (P26L)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
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 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 2656856	NM_198239.2(CCN6):c.195G>T (p.Val65=)	CCN6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 638295	NM_198239.2(CCN6):c.248G>A (p.Gly83Glu)	CCN6 (G83E)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 2656857	NM_198239.2(CCN6):c.397C>G (p.Gln133Glu)	CCN6 (Q133E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1680468	NM_198239.2(CCN6):c.589+27C>T	CCN6	Single nucleotide variant (intron variant)	CCN6-related condition +1 more	GConflicting classifications of pathogenicity
Select item 2656858	NM_198239.2(CCN6):c.804C>T (p.Cys268=)	CCN6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign