C0162635[trait identifier] AND "RettBASE"[submitter] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 143838	NM_001323289.2(CDKL5):c.902_903dup (p.Leu302fs)	CDKL5 (L302fs)	Microsatellite (frameshift variant)	CDKL5 disorder	GPathogenic
Select item 189662	NM_001110792.2(MECP2):c.1195_1246del (p.Pro399fs)	MECP2 (P387fs +3 more)	Deletion (frameshift variant)	Severe neonatal-onset encephalopathy with microcephaly +2 more	GPathogenic/Likely pathogenic
Select item 143372	NM_001110792.2(MECP2):c.1193_1236del (p.Leu398fs)	MECP2 (L398fs +2 more)	Deletion (frameshift variant)	MECP2-related disorder +3 more	GPathogenic
Select item 143390	NM_001110792.2(MECP2):c.1197_1202del (p.Pro402_Pro403del)	MECP2	Deletion (inframe_deletion)	Rett syndrome	GBenign 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 11811	NM_001110792.2(MECP2):c.509C>T (p.Thr170Met)	MECP2 (T158M +2 more)	Single nucleotide variant (missense variant +1 more)	Autism, susceptibility to, X-linked 3 +9 more	GPathogenic/Likely pathogenic
Select item 11833	NM_001110792.2(MECP2):c.459C>G (p.Tyr153Ter)	MECP2 (Y141* +2 more)	Single nucleotide variant (nonsense +1 more)	Rett syndrome +3 more	GPathogenic
Select item 11809	NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys)	MECP2 (R133C +2 more)	Single nucleotide variant (missense variant +1 more)	Rett syndrome	GPathogenic FDA Recognized database
Select item 143526	NM_001110792.2(MECP2):c.338C>G (p.Pro113Arg)	MECP2 (P101R +2 more)	Single nucleotide variant (missense variant +1 more)	Rett syndrome	GPathogenic FDA Recognized database
Select item 11818	NM_001110792.2(MECP2):c.203_204del (p.Pro68fs)	MECP2 (P56fs +1 more)	Deletion (frameshift variant +1 more)	Rett syndrome	GPathogenic
Select item 143328	NM_001110792.2(MECP2):c.144_147del (p.Glu49fs)	MECP2 (E37fs +1 more)	Microsatellite (frameshift variant +1 more)	Severe neonatal-onset encephalopathy with microcephaly +4 more	GPathogenic