ClinVar for MedGen (Select 411414) - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 599356	GRCh37/hg19 17q24.3(chr17:69475275-69499520)x3	SOX9	Copy number gain	46,XX sex reversal 2	GPathogenic
Select item 599355	GRCh37/hg19 17q24.3(chr17:69458883-69482850)x3	SOX9	Copy number gain	46,XX sex reversal 2	GPathogenic
Select item 192387	NC_000017.10:g.69521863_69670036dup	SOX9	Duplication	46,XX sex reversal 2	GPathogenic
Select item 192386	SOX9, 96-KB TRIPLICATION, UPSTREAM REGULATORY REGION	SOX9	Copy number gain	46,XX sex reversal 2	GPathogenic
Select item 30708	NC_000017.10:g.(69320000_69330000)_(69527000_69517000)dup	SOX9	Duplication	46,XX sex reversal 2	GPathogenic

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