"Neuberg Centre For Genomic Medicine, NCGM"[submitter] AND "MECP2"[gen - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 378124	NM_001110792.2(MECP2):c.1448G>C (p.Arg483Thr)	MECP2 (R471T +3 more)	Single nucleotide variant (missense variant)	Rett syndrome	GUncertain significance FDA Recognized database
Select item 2584881	NM_001110792.2(MECP2):c.1429T>C (p.Ser477Pro)	MECP2 (S242P +3 more)	Single nucleotide variant (missense variant)	Rett syndrome	GUncertain significance
Select item 143369	NM_001110792.2(MECP2):c.1193_1233del (p.Leu398fs)	MECP2 (L398fs +2 more)	Deletion (frameshift variant)	See cases +3 more	GPathogenic/Likely pathogenic
Select item 1878531	NM_001110792.2(MECP2):c.1205C>T (p.Pro402Leu)	MECP2 (P167L +3 more)	Single nucleotide variant (missense variant)	Rett syndrome	GUncertain significance
Select item 143384	NM_001110792.2(MECP2):c.1196_1202del (p.Pro399fs)	MECP2 (P387fs +3 more)	Deletion (frameshift variant)	Rett syndrome +1 more	GPathogenic
Select item 2585476	NM_001110792.2(MECP2):c.1130A>G (p.Glu377Gly)	MECP2 (E377G +3 more)	Single nucleotide variant (missense variant)	X-linked intellectual disability-psychosis-macroorchidism 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 95202	NM_001110792.2(MECP2):c.842del (p.Gly281fs)	MECP2 (G176fs +3 more)	Deletion (frameshift variant)	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)	Autism, susceptibility to, X-linked 3 +9 more	GPathogenic/Likely pathogenic
Select item 1721248	NM_001110792.2(MECP2):c.580C>T (p.Pro194Ser)	MECP2 (P182S +2 more)	Single nucleotide variant (missense variant +1 more)	X-linked intellectual disability-psychosis-macroorchidism syndrome +1 more	GUncertain significance
Select item 2664190	NM_001110792.2(MECP2):c.564del (p.Lys189fs)	MECP2 (K177fs +2 more)	Deletion (frameshift variant +1 more)	Autism, susceptibility to, X-linked 3	GUncertain significance
Select item 158883	NM_001110792.2(MECP2):c.542A>G (p.Glu181Gly)	MECP2 (E169G +2 more)	Single nucleotide variant (missense variant +1 more)	Encephalopathy, neonatal severeMental retardation, X-linked, syndromic 13Rett syndrome +1 more	GUncertain significance
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 1679147	NM_001110792.2(MECP2):c.434G>C (p.Arg145Pro)	MECP2 (R133P +2 more)	Single nucleotide variant (missense variant +1 more)	Rett syndrome	GPathogenic/Likely pathogenic
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 11814	NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp)	MECP2 (R106W +2 more)	Single nucleotide variant (missense variant +1 more)	Autism, susceptibility to, X-linked 3 +7 more	GPathogenic/Likely pathogenic
Select item 156609	NM_001110792.2(MECP2):c.311del (p.Gly104fs)	MECP2 (G92fs +1 more)	Deletion (frameshift variant +1 more)	Rett syndrome +1 more	GPathogenic/Likely pathogenic
Select item 3241981	NM_001110792.2(MECP2):c.63-6C>T	MECP2	Single nucleotide variant (intron variant)	Syndromic X-linked intellectual disability Lubs type	GUncertain significance

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Items: 21