ClinVar for MedGen (Select 411414) - ClinVar

VariationLocation		Gene(s)	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 5993561.	GRCh37/hg19 17q24.3(chr17:69475275-69499520)x3 GRCh37: Chr17:69458943-69499834	SOX9	46,XX sex reversal 2	Pathogenic (Oct 1, 2018)	criteria provided, single submitter
Select item 5993552.	GRCh37/hg19 17q24.3(chr17:69458883-69482850)x3 GRCh37: Chr17:69393372-69483073	SOX9	46,XX sex reversal 2	Pathogenic (Oct 1, 2018)	criteria provided, single submitter
Select item 1923873.	NC_000017.10:g.69521863_69670036dup GRCh37: Chr17:69521863-69670036	SOX9	46,XX sex reversal 2	Pathogenic (Dec 1, 2011)	no assertion criteria provided
Select item 1923864.	SOX9, 96-KB TRIPLICATION, UPSTREAM REGULATORY REGION	SOX9	46,XX sex reversal 2	Pathogenic (Oct 1, 2011)	no assertion criteria provided
Select item 307085.	NC_000017.10:g.(69320000_69330000)_(69527000_69517000)dup	SOX9	46,XX sex reversal 2	Pathogenic (Jan 6, 2011)	no assertion criteria provided

ClinVar