ClinVar for MedGen (Select 87439) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 931754	NM_005634.3(SOX3):c.186TCC[1] (p.Pro64del)	LOC108281134, SOX3 (P64del)	Microsatellite (inframe_deletion)	Panhypopituitarism, X-linked +1 more	GConflicting classifications of pathogenicity
Select item 590218	NM_005634.3(SOX3):c.753G>C (p.Pro251=)	SOX3	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 289513	NM_005634.3(SOX3):c.711_731del (p.Ala242_Ala248del)	SOX3	Deletion (inframe_deletion)	Intellectual disability, X-linked, with panhypopituitarism +4 more	GBenign/Likely benign
Select item 193320	NM_005634.3(SOX3):c.14G>A (p.Arg5Gln)	LOC108281134, SOX3 (R5Q)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 9870	NM_005634.3(SOX3):c.711_731dup (p.Ala248_Ser249insAlaAlaAlaAlaAlaAlaAla)	SOX3	Duplication (inframe_insertion)	Panhypopituitarism, X-linked	GPathogenic
Select item 9869	SOX3, DUP	SOX3	Insertion	Panhypopituitarism, X-linked	GPathogenic

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