"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "CBX2"[gene - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2069107	NM_005189.3(CBX2):c.69C>A (p.Arg23=)	CBX2, LOC130061877	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2648387	NM_005189.3(CBX2):c.288+43C>T	CBX2 (P111S)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2648388	NM_005189.3(CBX2):c.288+147T>G	CBX2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2648389	NM_005189.3(CBX2):c.288+172del	CBX2 (C154fs)	Deletion (frameshift variant +1 more)	not provided	GLikely benign
Select item 708978	NM_005189.3(CBX2):c.342G>A (p.Thr114=)	CBX2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 791205	NM_005189.3(CBX2):c.849G>T (p.Lys283Asn)	CBX2 (K283N)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 773753	NM_005189.3(CBX2):c.1411C>G (p.Pro471Ala)	CBX2 (P471A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1701331	GRCh37/hg19 17q25.1-25.3(chr17:73481509-81043199)x3	SLC26A11, SLC38A10 +146 more	Copy number gain	not provided	GPathogenic

ClinVar