"3billion"[submitter] AND "MECP2"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2444116	NM_001110792.2(MECP2):c.1402G>T (p.Gly468Ter)	MECP2 (G233* +3 more)	Single nucleotide variant (nonsense)	Rett syndrome	GLikely pathogenic
Select item 2444242	NM_001110792.2(MECP2):c.1200_1249delinsCTGAGCACCCCCCAAGAAGGAGCACCACCACCATCACCACCACTCAGAGT (p.Pro401_Pro417delinsTer)	MECP2	Indel (nonsense)	Rett syndrome	GLikely 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 2572448	NM_001110792.2(MECP2):c.956_976del (p.Lys319_Ser325del)	MECP2	Deletion (inframe_deletion)	Rett syndrome	GUncertain significance
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 11815	NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter)	MECP2 (R270* +3 more)	Single nucleotide variant (nonsense)	Autism, susceptibility to, X-linked 3 +8 more	GPathogenic
Select item 11829	NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter)	MECP2 (R255* +3 more)	Single nucleotide variant (nonsense)	Autism, susceptibility to, X-linked 3 +9 more	GPathogenic/Likely pathogenic
Select item 95200	NM_001110792.2(MECP2):c.766C>T (p.Gln256Ter)	MECP2 (Q244* +3 more)	Single nucleotide variant (nonsense)	Severe neonatal-onset encephalopathy with microcephaly +2 more	GPathogenic
Select item 11828	NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter)	MECP2 (R168* +2 more)	Single nucleotide variant (nonsense +1 more)	Developmental regression +7 more	GPathogenic
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 156068	NM_001110792.2(MECP2):c.414-3C>G	MECP2	Single nucleotide variant (intron variant)	Rett syndrome	GPathogenic FDA Recognized database
Select item 424578	NM_001110792.2(MECP2):c.289C>T (p.Arg97Cys)	MECP2 (R85C +1 more)	Single nucleotide variant (missense variant +1 more)	Rett syndrome	GUncertain significance FDA Recognized database
Select item 143695	NM_001110792.2(MECP2):c.112del (p.Leu38fs)	MECP2 (L26fs +1 more)	Deletion (frameshift variant +1 more)	Rett syndrome +1 more	GPathogenic