ClinVar for MedGen (Select 414349) - ClinVar

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 3752601.	NM_005189.3(CBX2):c.264del (p.Cys89fs) GRCh37: Chr17:77755575 GRCh38: Chr17:79781776	CBX2	C89fs	46,XY sex reversal 5	Uncertain significance (Nov 17, 2016)	criteria provided, single submitter
Select item 68272.	NM_005189.3(CBX2):c.1328G>C (p.Arg443Pro) GRCh37: Chr17:77758570 GRCh38: Chr17:79784771	CBX2	R443P	46,XY sex reversal 5	Pathogenic (May 1, 2009)	no assertion criteria provided
Select item 68263.	NM_005189.3(CBX2):c.293C>T (p.Pro98Leu) GRCh37: Chr17:77757535 GRCh38: Chr17:79783736	CBX2	P98L	46,XY sex reversal 5	Pathogenic (May 1, 2009)	no assertion criteria provided

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