ClinVar for MedGen (Select 898626) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 813009	NM_001110792.2(MECP2):c.148_152del (p.Glu50fs)	MECP2 (E38fs +1 more)	Deletion (frameshift variant +1 more)	Bulbar palsy +11 more	GLikely pathogenic
Select item 420056	NM_001127222.2(CACNA1A):c.2039_2040del (p.Gln680fs)	CACNA1A (Q680fs +1 more)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 42 +4 more	GPathogenic/Likely pathogenic