"Ambry Genetics"[submitter] AND "MECP2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2227433	NM_001110792.2(MECP2):c.1189_*1302delinsTCCCG (p.Pro397fs)	MECP2 (P162fs +3 more)	Indel (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 378126	NM_001110792.2(MECP2):c.*13C>T	MECP2	Single nucleotide variant (3 prime UTR variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 143298	NM_001110792.2(MECP2):c.*9G>A	MECP2	Single nucleotide variant (3 prime UTR variant)	not specified +4 more	GBenign/Likely benign
Select item 279847	NM_001110792.2(MECP2):c.1483G>A (p.Glu495Lys)	MECP2 (E495K +3 more)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 138197	NM_001110792.2(MECP2):c.1473G>A (p.Thr491=)	MECP2	Single nucleotide variant (synonymous variant)	MECP2-related condition +5 more	GBenign/Likely benign
Select item 156636	NM_001110792.2(MECP2):c.1469G>A (p.Arg490Gln)	MECP2 (R478Q +3 more)	Single nucleotide variant (missense variant)	Rett syndrome	GLikely benign FDA Recognized database
Select item 2217674	NM_001110792.2(MECP2):c.1423T>C (p.Ser475Pro)	MECP2 (S475P +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1770996	NM_001110792.2(MECP2):c.1405G>A (p.Glu469Lys)	MECP2 (E469K +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 143465	NM_001110792.2(MECP2):c.1375G>A (p.Ala459Thr)	MECP2 (A447T +3 more)	Single nucleotide variant (missense variant)	Rett syndrome	GBenign FDA Recognized database
Select item 95192	NM_001110792.2(MECP2):c.1371G>A (p.Thr457=)	MECP2	Single nucleotide variant (synonymous variant)	History of neurodevelopmental disorder +4 more	GBenign/Likely benign
Select item 211456	NM_001110792.2(MECP2):c.1364C>T (p.Ala455Val)	MECP2 (A443V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 36491	NM_001110792.2(MECP2):c.1363G>A (p.Ala455Thr)	MECP2 (A443T +3 more)	Single nucleotide variant (missense variant)	Rett syndrome	GBenign FDA Recognized database
Select item 143458	NM_001110792.2(MECP2):c.1351G>A (p.Ala451Thr)	MECP2 (A439T +3 more)	Single nucleotide variant (missense variant)	Rett syndrome +5 more	GBenign/Likely benign
Select item 95190	NM_001110792.2(MECP2):c.1351G>T (p.Ala451Ser)	MECP2 (A439S +3 more)	Single nucleotide variant (missense variant)	Rett syndrome	GBenign FDA Recognized database
Select item 590108	NM_001110792.2(MECP2):c.1345C>A (p.Gln449Lys)	MECP2 (Q437K +3 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 11831	NM_001110792.2(MECP2):c.1318G>A (p.Gly440Ser)	MECP2 (G428S +3 more)	Single nucleotide variant (missense variant)	Rett syndrome	GBenign FDA Recognized database
Select item 156634	NM_001110792.2(MECP2):c.1291C>T (p.Pro431Ser)	MECP2 (P419S +3 more)	Single nucleotide variant (missense variant)	Rett syndrome	GBenign FDA Recognized database
Select item 143446	NM_001110792.2(MECP2):c.1270G>A (p.Val424Ile)	MECP2 (V412I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 95189	NM_001110792.2(MECP2):c.1269C>T (p.Ser423=)	MECP2	Single nucleotide variant (synonymous variant)	Severe neonatal-onset encephalopathy with microcephaly +4 more	GBenign
Select item 1727527	NM_001110792.2(MECP2):c.1165_1264del (p.Lys389fs)	MECP2 (K154fs +3 more)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 916515	NM_001110792.2(MECP2):c.1255G>A (p.Asp419Asn)	MECP2 (D314N +2 more)	Single nucleotide variant (missense variant)	Rett syndrome	GLikely benign FDA Recognized database
Select item 1735996	NM_001110792.2(MECP2):c.1197_1252del (p.Pro400fs)	MECP2 (P165fs +3 more)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 393491	NM_001110792.2(MECP2):c.1216_1251del (p.Glu406_Pro417del)	MECP2	Deletion (inframe_deletion)	not specified +3 more	GUncertain significance
Select item 143440	NM_001110792.2(MECP2):c.1251C>T (p.Pro417=)	MECP2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 156633	NM_001110792.2(MECP2):c.1244C>T (p.Pro415Leu)	MECP2 (P403L +3 more)	Single nucleotide variant (missense variant)	Rett syndrome	GLikely benign FDA Recognized database
Select item 1301354	NM_001110792.2(MECP2):c.1209_1243del (p.Pro403_Glu404insTer)	MECP2	Deletion (frameshift variant)	Inborn genetic diseases +1 more	GPathogenic/Likely pathogenic
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 138195	NM_001110792.2(MECP2):c.1241C>T (p.Pro414Leu)	MECP2 (P402L +3 more)	Single nucleotide variant (missense variant)	Rett syndrome	GBenign FDA Recognized database
Select item 95188	NM_001110792.2(MECP2):c.1233C>T (p.Pro411=)	MECP2	Single nucleotide variant (synonymous variant)	History of neurodevelopmental disorder +4 more	GBenign/Likely benign
Select item 1738351	NM_001110792.2(MECP2):c.1203_1231del (p.Pro402fs)	MECP2 (P167fs +3 more)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 211454	NM_001110792.2(MECP2):c.1231C>T (p.Pro411Ser)	MECP2 (P399S +3 more)	Single nucleotide variant (missense variant)	Rett syndrome	GLikely benign FDA Recognized database
Select item 516185	NM_001110792.2(MECP2):c.1230C>T (p.Asp410=)	MECP2	Single nucleotide variant (synonymous variant)	Severe neonatal-onset encephalopathy with microcephaly +2 more	GLikely benign
Select item 1779298	NM_001110792.2(MECP2):c.1095_1226delinsACTCTGAGTGGTGGTGATGGTGGT (p.Arg366_Glu409delinsLeuTer)	MECP2	Indel (nonsense)	Inborn genetic diseases	GPathogenic
Select item 95187	NM_001110792.2(MECP2):c.1225G>A (p.Glu409Lys)	MECP2 (E397K +3 more)	Single nucleotide variant (missense variant)	Rett syndrome	GBenign FDA Recognized database
Select item 211453	NM_001110792.2(MECP2):c.1224C>T (p.Ser408=)	MECP2	Single nucleotide variant (synonymous variant)	Rett syndrome	GBenign FDA Recognized database
Select item 143401	NM_001110792.2(MECP2):c.1199_1224del (p.Pro400fs)	MECP2 (P295fs +2 more)	Deletion (frameshift variant)	Inborn genetic diseases +1 more	GPathogenic
Select item 143418	NM_001110792.2(MECP2):c.1214C>T (p.Pro405Leu)	MECP2 (P393L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 536582	NM_001110792.2(MECP2):c.1211A>C (p.Glu404Ala)	MECP2 (E392A +3 more)	Single nucleotide variant (missense variant)	Severe neonatal-onset encephalopathy with microcephaly +1 more	GConflicting classifications of pathogenicity
Select item 426939	NM_001110792.2(MECP2):c.1207C>G (p.Pro403Ala)	MECP2 (P391A +3 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 451611	NM_001110792.2(MECP2):c.1199dup (p.Pro401fs)	MECP2 (P401fs +3 more)	Duplication (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 143395	NM_001110792.2(MECP2):c.1198_1199delinsTA (p.Pro400Ter)	MECP2 (P400* +3 more)	Indel (nonsense)	Inborn genetic diseases +4 more	GPathogenic
Select item 590042	NM_001110792.2(MECP2):c.1193_1198del (p.Leu398_Pro399del)	MECP2	Deletion (inframe_deletion)	Severe neonatal-onset encephalopathy with microcephaly +1 more	GConflicting classifications of pathogenicity
Select item 156632	NM_001110792.2(MECP2):c.1198C>G (p.Pro400Ala)	MECP2 (P388A +3 more)	Single nucleotide variant (missense variant)	MECP2-related condition +4 more	GBenign/Likely benign
Select item 143393	NM_001110792.2(MECP2):c.1198C>T (p.Pro400Ser)	MECP2 (P388S +3 more)	Single nucleotide variant (missense variant)	Rett syndrome	GBenign FDA Recognized database
Select item 95186	NM_001110792.2(MECP2):c.1197C>T (p.Pro399=)	MECP2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GBenign
Select item 143383	NM_001110792.2(MECP2):c.1196C>T (p.Pro399Leu)	MECP2 (P387L +3 more)	Single nucleotide variant (missense variant)	Rett syndrome	GBenign FDA Recognized database
Select item 1793818	NM_001110792.2(MECP2):c.1143_1192delinsCCCCCG (p.His382fs)	MECP2 (H277fs +3 more)	Indel (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 143353	NM_001110792.2(MECP2):c.1188_1191del (p.Pro397fs)	MECP2 (P292fs +3 more)	Deletion (frameshift variant)	Inborn genetic diseases +1 more	GPathogenic/Likely pathogenic
Select item 2609932	NM_001110792.2(MECP2):c.1189C>T (p.Pro397Ser)	MECP2 (P385S +3 more)	Single nucleotide variant (missense variant)	Severe neonatal-onset encephalopathy with microcephaly +1 more	GConflicting classifications of pathogenicity
Select item 589521	NM_001110792.2(MECP2):c.1186C>T (p.Pro396Ser)	MECP2 (P384S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 516184	NM_001110792.2(MECP2):c.1183C>T (p.Leu395Phe)	MECP2 (L383F +3 more)	Single nucleotide variant (missense variant)	Rett syndrome	GLikely benign FDA Recognized database
Select item 143344	NM_001110792.2(MECP2):c.1174G>A (p.Val392Met)	MECP2 (V380M +3 more)	Single nucleotide variant (missense variant)	Rett syndrome	GBenign FDA Recognized database
Select item 95185	NM_001110792.2(MECP2):c.1173C>T (p.Pro391=)	MECP2	Single nucleotide variant (synonymous variant)	MECP2-related condition +5 more	GBenign/Likely benign
Select item 1170846	NM_001110792.2(MECP2):c.1171C>T (p.Pro391Ser)	MECP2 (P156S +3 more)	Single nucleotide variant (missense variant)	MECP2-related condition +3 more	GConflicting classifications of pathogenicity
Select item 143340	NM_001110792.2(MECP2):c.1169C>G (p.Ala390Gly)	MECP2 (A378G +3 more)	Single nucleotide variant (missense variant)	Rett syndrome	GUncertain significance FDA Recognized database
Select item 1765604	NM_001110792.2(MECP2):c.941_1168delinsGTACTTCTTGATGGGGC (p.Pro314_Ala390delinsArgThrSerTer)	MECP2	Indel (nonsense)	Inborn genetic diseases	GLikely pathogenic
Select item 95184	NM_001110792.2(MECP2):c.1162C>T (p.Pro388Ser)	MECP2 (P388S +2 more)	Single nucleotide variant (missense variant)	Rett syndrome	GBenign FDA Recognized database
Select item 1670723	NM_001110792.2(MECP2):c.1156G>C (p.Glu386Gln)	MECP2 (E151Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 280541	NM_001110792.2(MECP2):c.1122dup (p.Lys375fs)	MECP2 (K270fs +3 more)	Duplication (frameshift variant)	not provided +3 more	GPathogenic
Select item 143325	NM_001110792.2(MECP2):c.1117C>G (p.Pro373Ala)	MECP2 (P361A +3 more)	Single nucleotide variant (missense variant)	Rett syndrome	GLikely benign FDA Recognized database
Select item 143321	NM_001110792.2(MECP2):c.1111T>C (p.Ser371Pro)	MECP2 (S359P +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 95183	NM_001110792.2(MECP2):c.1107C>T (p.Ser369=)	MECP2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +5 more	GBenign/Likely benign
Select item 1152555	NM_001110792.2(MECP2):c.1086C>T (p.Ser362=)	MECP2	Single nucleotide variant (synonymous variant)	Severe neonatal-onset encephalopathy with microcephaly +2 more	GConflicting classifications of pathogenicity
Select item 138193	NM_001110792.2(MECP2):c.1071A>G (p.Lys357=)	MECP2	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 143764	NM_001110792.2(MECP2):c.1032C>T (p.Ser344=)	MECP2	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 143758	NM_001110792.2(MECP2):c.1020C>T (p.Leu340=)	MECP2	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 1766926	NM_001110792.2(MECP2):c.978C>G (p.Ile326Met)	MECP2 (I326M +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 143750	NM_001110792.2(MECP2):c.978C>T (p.Ile326=)	MECP2	Single nucleotide variant (synonymous variant)	not specified +7 more	GBenign/Likely benign
Select item 36496	NM_001110792.2(MECP2):c.968C>T (p.Thr323Met)	MECP2 (T311M +3 more)	Single nucleotide variant (missense variant)	Rett syndrome	GBenign FDA Recognized database
Select item 143749	NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp)	MECP2 (R309W +3 more)	Single nucleotide variant (missense variant)	Rett syndrome	GPathogenic FDA Recognized database
Select item 521860	NM_001110792.2(MECP2):c.953G>C (p.Arg318Pro)	MECP2 (R306P +3 more)	Single nucleotide variant (missense variant)	Severe neonatal-onset encephalopathy with microcephaly +1 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 655729	NM_001110792.2(MECP2):c.948G>C (p.Lys316Asn)	MECP2 (K316N +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1423525	NM_001110792.2(MECP2):c.937C>G (p.Leu313Val)	MECP2 (L208V +3 more)	Single nucleotide variant (missense variant)	Severe neonatal-onset encephalopathy with microcephaly +2 more	GConflicting classifications of pathogenicity
Select item 36494	NM_001110792.2(MECP2):c.934G>A (p.Val312Ile)	MECP2 (V300I +3 more)	Single nucleotide variant (missense variant)	Rett syndrome +2 more	GConflicting classifications of pathogenicity
Select item 95205	NM_001110792.2(MECP2):c.933C>T (p.Thr311=)	MECP2	Single nucleotide variant (synonymous variant)	History of neurodevelopmental disorder +7 more	GBenign/Likely benign
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 156671	NM_001110792.2(MECP2):c.915C>G (p.Ile305Met)	MECP2 (I293M +3 more)	Single nucleotide variant (missense variant)	Rett syndrome	GBenign FDA Recognized database
Select item 2242759	NM_001110792.2(MECP2):c.908dup (p.Ser304fs)	MECP2 (S199fs +3 more)	Duplication (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 521116	NM_001110792.2(MECP2):c.908C>G (p.Ser303Cys)	MECP2 (S291C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 547516	NM_001110792.2(MECP2):c.898G>A (p.Val300Met)	MECP2 (V288M +3 more)	Single nucleotide variant (missense variant)	History of neurodevelopmental disorder +2 more	GBenign/Likely benign
Select item 143714	NM_001110792.2(MECP2):c.892_895del (p.Lys298fs)	MECP2 (K298fs +3 more)	Microsatellite (frameshift variant)	Inborn genetic diseases +2 more	GPathogenic
Select item 1759278	NM_001110792.2(MECP2):c.787_889del (p.Pro263fs)	MECP2 (P28fs +3 more)	Deletion (frameshift variant)	Inborn genetic diseases	GLikely pathogenic
Select item 143711	NM_001110792.2(MECP2):c.885C>G (p.Ala295=)	MECP2	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign/Likely benign
Select item 138191	NM_001110792.2(MECP2):c.879C>T (p.Ala293=)	MECP2	Single nucleotide variant (synonymous variant)	Rett syndrome +4 more	GBenign
Select item 386725	NM_001110792.2(MECP2):c.877G>A (p.Ala293Thr)	MECP2 (A281T +3 more)	Single nucleotide variant (missense variant)	Rett syndrome	GBenign FDA Recognized database
Select item 138190	NM_001110792.2(MECP2):c.876C>T (p.Ala292=)	MECP2	Single nucleotide variant (synonymous variant)	Rett syndrome	GBenign FDA Recognized database
Select item 143709	NM_001110792.2(MECP2):c.870C>T (p.Ala290=)	MECP2	Single nucleotide variant (synonymous variant)	Rett syndrome +4 more	GBenign/Likely benign
Select item 589959	NM_001110792.2(MECP2):c.866C>T (p.Ala289Val)	MECP2 (A277V +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 431840	NM_001110792.2(MECP2):c.860T>C (p.Val287Ala)	MECP2 (V275A +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 143706	NM_001110792.2(MECP2):c.855G>T (p.Gly285=)	MECP2	Single nucleotide variant (synonymous variant)	Rett syndrome +4 more	GBenign
Select item 413768	NM_001110792.2(MECP2):c.846A>G (p.Arg282=)	MECP2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 11815	NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter)	MECP2 (R270* +3 more)	Single nucleotide variant (nonsense)	not provided +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 143700	NM_001110792.2(MECP2):c.838C>T (p.Arg280Trp)	MECP2 (R268W +3 more)	Single nucleotide variant (missense variant)	Rett syndrome	GUncertain significance FDA Recognized database
Select item 2226858	NM_001110792.2(MECP2):c.824C>T (p.Ala275Val)	MECP2 (A263V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 520923	NM_001110792.2(MECP2):c.820C>G (p.Gln274Glu)	MECP2 (Q262E +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229884	NM_001110792.2(MECP2):c.800G>C (p.Arg267Pro)	MECP2 (R162P +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 11829	NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter)	MECP2 (R255* +3 more)	Single nucleotide variant (nonsense)	Syndromic X-linked intellectual disability Lubs type +9 more	GPathogenic/Likely pathogenic
Select item 143686	NM_001110792.2(MECP2):c.789C>T (p.Pro263=)	MECP2	Single nucleotide variant (synonymous variant)	History of neurodevelopmental disorder +4 more	GBenign/Likely benign

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