C0035372[trait identifier] AND "Rady Children's Institute for Genomic - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 446211	NM_005458.8(GABBR2):c.1699G>A (p.Ala567Thr)	GABBR2 (A567T)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic
Select item 143406	NM_001110792.2(MECP2):c.1200_1243del (p.Pro400_Pro401insTer)	MECP2	Deletion (frameshift variant)	Rett syndrome	GPathogenic FDA Recognized database
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
Select item 11819	NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter)	MECP2 (R294* +3 more)	Single nucleotide variant (nonsense)	Rett syndrome	GPathogenic FDA Recognized database
Select item 11829	NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter)	MECP2 (R255* +3 more)	Single nucleotide variant (nonsense)	Severe neonatal-onset encephalopathy with microcephaly +9 more	GPathogenic/Likely pathogenic
Select item 143688	NM_001110792.2(MECP2):c.789dup (p.Gly264fs)	MECP2 (G159fs +3 more)	Duplication (frameshift variant)	Severe neonatal-onset encephalopathy with microcephaly +2 more	GPathogenic/Likely pathogenic
Select item 143687	NM_001110792.2(MECP2):c.789del (p.Gly264fs)	MECP2 (G252fs +3 more)	Deletion (frameshift variant)	Seizure +4 more	GPathogenic

ClinVar