Related gene-specific medical variations for Gene (Select 84733) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065910	NM_005189.3(CBX2):c.332C>T (p.Ser111Phe)	CBX2 (S111F)	Single nucleotide variant (missense variant)	46,XY sex reversal 5	GLikely benign
Select item 3065334	NM_005189.3(CBX2):c.117-18del	CBX2	Deletion (intron variant)	46,XY sex reversal 5	GUncertain significance
Select item 2974727	NM_005189.3(CBX2):c.73-19C>G	CBX2, LOC130061878	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2421844	NM_005189.3(CBX2):c.48C>T (p.Cys16=)	CBX2, LOC130061877	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2300499	NM_005189.3(CBX2):c.82G>C (p.Glu28Gln)	CBX2, LOC130061878 (E28Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 1600780	NM_005189.3(CBX2):c.72+25del	CBX2, LOC130061877	Deletion (intron variant)	not provided	GBenign
Select item 1413266	NM_005189.3(CBX2):c.10C>G (p.Leu4Val)	LOC130061877, CBX2 (L4V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1358800	NM_005189.3(CBX2):c.73-7C>A	CBX2, LOC130061878	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 996035	NM_005189.3(CBX2):c.117-3C>T	CBX2	Single nucleotide variant (intron variant)	Disorder of sexual differentiation	GUncertain significance