"Institute of Human Genetics, University of Leipzig Medical Center"[su - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 143467	NM_001110792.2(MECP2):c.1393C>T (p.Arg465Ter)	MECP2 (R453* +3 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 976366	NM_001110792.2(MECP2):c.1351_1359dup (p.Ala451_Ala453dup)	MECP2	Duplication (inframe_insertion)	Rett syndrome	GUncertain significance
Select item 1691859	NM_001110792.2(MECP2):c.808_1334del (p.Glu270fs)	MECP2 (E165fs +3 more)	Deletion (frameshift variant)	Rett syndrome	GPathogenic
Select item 975956	NM_001110792.2(MECP2):c.1328A>C (p.Lys443Thr)	MECP2 (K338T +2 more)	Single nucleotide variant (missense variant)	Rett syndrome	GUncertain significance
Select item 976419	NM_001110792.2(MECP2):c.1314_1315insCGTCACTA (p.Asp439delinsArgHisTer)	MECP2	Insertion (nonsense)	Severe neonatal-onset encephalopathy with microcephaly	GPathogenic
Select item 997823	NM_001110792.2(MECP2):c.63-5800_1271del	MECP2	Deletion (splice acceptor variant +2 more)	Epilepsy +1 more	GLikely pathogenic
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 143345	NM_001110792.2(MECP2):c.1174_1199del (p.Val392fs)	MECP2 (V380fs +3 more)	Deletion (frameshift variant)	Rett syndrome	GPathogenic FDA Recognized database
Select item 143342	NM_001110792.2(MECP2):c.1171_1178del (p.Pro391fs)	MECP2 (P379fs +3 more)	Deletion (frameshift variant)	not provided +3 more	GPathogenic
Select item 536579	NM_001110792.2(MECP2):c.1173del (p.Val392fs)	MECP2 (V392fs +3 more)	Deletion (frameshift variant)	Rett syndrome +2 more	GPathogenic/Likely pathogenic
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)	Inborn genetic diseases +8 more	GPathogenic
Select item 138188	NM_001110792.2(MECP2):c.638C>T (p.Ala213Val)	MECP2 (A201V +2 more)	Single nucleotide variant (missense variant +1 more)	Rett syndrome	GBenign FDA Recognized database
Select item 11828	NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter)	MECP2 (R168* +2 more)	Single nucleotide variant (nonsense +1 more)	Developmental regression +8 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)	Rett syndrome +9 more	GPathogenic/Likely pathogenic
Select item 95196	NM_001110792.2(MECP2):c.504C>G (p.Asp168Glu)	MECP2 (D156E +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 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)	Motor delay +15 more	GPathogenic/Likely pathogenic
Select item 143564	NM_001110792.2(MECP2):c.439A>G (p.Lys147Glu)	MECP2 (K135E +2 more)	Single nucleotide variant (missense variant +1 more)	Rett syndrome	GPathogenic FDA Recognized database
Select item 143562	NM_001110792.2(MECP2):c.437C>G (p.Ser146Cys)	MECP2 (S134C +2 more)	Single nucleotide variant (missense variant +1 more)	Severe neonatal-onset encephalopathy with microcephaly +3 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 11814	NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp)	MECP2 (R106W +2 more)	Single nucleotide variant (missense variant +1 more)	Rett syndrome +7 more	GPathogenic/Likely pathogenic
Select item 976387	NM_001110792.2(MECP2):c.148_149insGCCAAAG (p.Glu50fs)	MECP2 (E38fs +1 more)	Insertion (frameshift variant +1 more)	Intellectual disability +1 more	GPathogenic
Select item 2580350	GRCh37/hg19 Xq28(chrX:153283692-153298113)x1	IRAK1, MECP2	Copy number loss	Rett syndrome	GPathogenic
Select item 2580330	GRCh37/hg19 Xq28(chrX:153247464-153522710)x3	IRAK1, MECP2 +5 more	Copy number gain	Chromosome Xq28 duplication syndrome	GPathogenic
Select item 2580294	GRCh37/hg19 Xq28(chrX:153217915-153618382)x2	EMD, FLNA +9 more	Copy number gain	Syndromic X-linked intellectual disability Lubs type	GPathogenic

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Items: 27