ClinVar for MedGen (Select 381506) - 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 204815	NM_000026.4(ADSL):c.421C>T (p.Arg141Trp)	ADSL (R141W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GPathogenic/Likely pathogenic
Select item 204807	NM_000026.4(ADSL):c.340T>C (p.Tyr114His)	ADSL (Y114H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +7 more	GPathogenic

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