"Centre for Mendelian Genomics, University Medical Centre Ljubljana"[s - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 429893	NM_001110792.2(MECP2):c.1244dup (p.Pro415_Glu416insTer)	MECP2	Duplication (frameshift variant)	Rett syndrome	GUncertain significance FDA Recognized database
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 931417	NM_001110792.2(MECP2):c.1198_1206delinsACCAGCCCCC (p.Pro400fs)	MECP2 (P388fs +2 more)	Indel (frameshift variant)	Autism, susceptibility to, X-linked 3	GLikely pathogenic
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 143653	NM_001110792.2(MECP2):c.710C>G (p.Pro237Arg)	MECP2 (P225R +3 more)	Single nucleotide variant (missense variant)	Severe neonatal-onset encephalopathy with microcephaly +7 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 11823	NM_001110792.2(MECP2):c.455C>T (p.Ala152Val)	MECP2 (A140V +2 more)	Single nucleotide variant (missense variant +1 more)	Autism, susceptibility to, X-linked 3 +15 more	GPathogenic/Likely pathogenic
Select item 156053	NM_001110792.2(MECP2):c.413+1G>T	MECP2	Single nucleotide variant (splice donor variant)	Rett syndrome +4 more	GPathogenic
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 930921	NM_001110792.2(MECP2):c.236G>T (p.Gly79Val)	MECP2 (G67V +1 more)	Single nucleotide variant (missense variant +1 more)	Severe neonatal-onset encephalopathy with microcephaly +1 more	GUncertain significance
Select item 189763	NM_001110792.2(MECP2):c.6CGC[8] (p.Ala7_Ala8dup)	LOC130068854, MECP2	Microsatellite (5 prime UTR variant +1 more)	Rett syndrome	GBenign FDA Recognized database
Select item 523295	GRCh37/hg19 Xq28(chrX:153138672-153665655)	ARHGAP4, ATP6AP1 +19 more	Copy number gain	Abnormal facial shape +3 more	GPathogenic