ClinVar for PubMed (Select 12210319) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 521860	NM_001110792.2(MECP2):c.953G>C (p.Arg318Pro)	MECP2 (R306P +3 more)	Single nucleotide variant (missense variant)	Severe neonatal-onset encephalopathy with microcephaly +1 more	GPathogenic/Likely pathogenic
Select item 11824	NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys)	MECP2 (R306C +3 more)	Single nucleotide variant (missense variant)	Rett syndrome	GPathogenic FDA Recognized database