ClinVar for MedGen (Select 1841261) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2573134	NM_016235.3(GPRC5B):c.528_530dup (p.Ala177_Val178insAla)	GPRC5B	Duplication (inframe_insertion)	Megalencephalic leukoencephalopathy with subcortical cysts 3	GPathogenic
Select item 2573133	NM_016235.3(GPRC5B):c.523ATC[3] (p.Ile176_Ala177insIle)	GPRC5B	Microsatellite (inframe_insertion)	Megalencephalic leukoencephalopathy with subcortical cysts 3	GPathogenic