ClinVar for MedGen (Select 1055694) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3370405	NM_014370.4(SRPK3):c.1373C>A (p.Thr458Asn)	SRPK3 (T458N +2 more)	Single nucleotide variant (missense variant)	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 114	GPathogenic
Select item 3370404	NM_014370.4(SRPK3):c.475C>G (p.His159Asp)	SRPK3 (H159D)	Single nucleotide variant (missense variant)	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 114	GPathogenic