C1968556[trait identifier] AND "Labcorp Genetics (formerly Invitae), L - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 406155	NM_001110792.2(MECP2):c.1194_*3444del (p.Pro399fs)	MECP2 (P294fs +1 more)	Deletion (frameshift variant)	Severe neonatal-onset encephalopathy with microcephaly	GPathogenic
Select item 2773086	NM_001110792.2(MECP2):c.1490_*881delinsGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAG (p.Val497fs)	MECP2 (V392fs +3 more)	Indel (frameshift variant)	Severe neonatal-onset encephalopathy with microcephaly	GUncertain significance
Select item 837591	NM_001110792.2(MECP2):c.1275_*863del (p.Cys425_Ter499delinsXaa)	MECP2	Deletion (stop lost)	Severe neonatal-onset encephalopathy with microcephaly	GPathogenic
Select item 2704664	NM_001110792.2(MECP2):c.1243_*586del (p.Pro415fs)	MECP2 (P403fs +3 more)	Deletion (frameshift variant)	Severe neonatal-onset encephalopathy with microcephaly	GPathogenic
Select item 2861149	NM_001110792.2(MECP2):c.1136_*557del (p.His379fs)	MECP2 (H274fs +3 more)	Deletion (frameshift variant)	Severe neonatal-onset encephalopathy with microcephaly	GPathogenic
Select item 2018765	NM_001110792.2(MECP2):c.1267_*76del (p.Val424fs)	MECP2 (V424fs +3 more)	Deletion (frameshift variant)	Severe neonatal-onset encephalopathy with microcephaly	GPathogenic
Select item 143490	NM_001110792.2(MECP2):c.1497A>G (p.Ter499Trp)	MECP2	Single nucleotide variant (stop lost)	Rett syndrome	GLikely pathogenicFDA Recognized database
Select item 834679	NM_001110792.2(MECP2):c.1496G>C (p.Ter499Ser)	MECP2	Single nucleotide variant (stop lost)	Syndromic X-linked intellectual disability Lubs type +1 more	GLikely pathogenic
Select item 143485	NM_001110792.2(MECP2):c.1490_1493del (p.Val497fs)	MECP2 (V485fs +3 more)	Deletion (frameshift variant)	Rett syndrome	GPathogenicFDA Recognized database
Select item 1003411	NM_001110792.2(MECP2):c.1489G>C (p.Val497Leu)	MECP2 (V262L +3 more)	Single nucleotide variant (missense variant)	Severe neonatal-onset encephalopathy with microcephaly	GLikely benign
Select item 143483	NM_001110792.2(MECP2):c.1487G>C (p.Arg496Thr)	MECP2 (R484T +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 143480	NM_001110792.2(MECP2):c.1485G>C (p.Glu495Asp)	MECP2 (E483D +3 more)	Single nucleotide variant (missense variant)	Rett syndrome +1 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)	Inborn genetic diseases +3 more	GUncertain significance
Select item 143478	NM_001110792.2(MECP2):c.1482C>T (p.Thr494=)	MECP2	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 2839447	NM_001110792.2(MECP2):c.1479G>A (p.Val493=)	MECP2	Single nucleotide variant (synonymous variant)	Severe neonatal-onset encephalopathy with microcephaly	GLikely benign
Select item 36492	NM_001110792.2(MECP2):c.1477G>A (p.Val493Met)	MECP2 (V481M +3 more)	Single nucleotide variant (missense variant)	Rett syndrome	GLikely benignFDA Recognized database
Select item 1149684	NM_001110792.2(MECP2):c.1476C>T (p.Pro492=)	MECP2	Single nucleotide variant (synonymous variant)	Severe neonatal-onset encephalopathy with microcephaly	GLikely benign
Select item 2839997	NM_001110792.2(MECP2):c.1475C>T (p.Pro492Leu)	MECP2 (P480L +3 more)	Single nucleotide variant (missense variant)	Severe neonatal-onset encephalopathy with microcephaly	GUncertain significance
Select item 143477	NM_001110792.2(MECP2):c.1474C>T (p.Pro492Ser)	MECP2 (P480S +3 more)	Single nucleotide variant (missense variant)	Severe neonatal-onset encephalopathy with microcephaly +1 more	GBenign
Select item 138197	NM_001110792.2(MECP2):c.1473G>A (p.Thr491=)	MECP2	Single nucleotide variant (synonymous variant)	Severe neonatal-onset encephalopathy with microcephaly +4 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 benignFDA Recognized database
Select item 748105	NM_001110792.2(MECP2):c.1468C>A (p.Arg490=)	MECP2	Single nucleotide variant (synonymous variant)	Severe neonatal-onset encephalopathy with microcephaly	GLikely benign
Select item 2837966	NM_001110792.2(MECP2):c.1467C>T (p.Ser489=)	MECP2	Single nucleotide variant (synonymous variant)	Severe neonatal-onset encephalopathy with microcephaly	GLikely benign
Select item 143475	NM_001110792.2(MECP2):c.1466G>C (p.Ser489Thr)	MECP2 (S477T +3 more)	Single nucleotide variant (missense variant)	Rett syndrome	GLikely benignFDA Recognized database
Select item 2826707	NM_001110792.2(MECP2):c.1459G>C (p.Val487Leu)	MECP2 (V382L +3 more)	Single nucleotide variant (missense variant)	Severe neonatal-onset encephalopathy with microcephaly	GUncertain significance
Select item 516510	NM_001110792.2(MECP2):c.1458T>C (p.Pro486=)	MECP2	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 431908	NM_001110792.2(MECP2):c.1455G>C (p.Glu485Asp)	MECP2 (E473D +3 more)	Single nucleotide variant (missense variant)	Rett syndrome	GBenignFDA Recognized database
Select item 1667533	NM_001110792.2(MECP2):c.1452G>C (p.Glu484Asp)	MECP2 (E249D +3 more)	Single nucleotide variant (missense variant)	Severe neonatal-onset encephalopathy with microcephaly	GBenign
Select item 2848886	NM_001110792.2(MECP2):c.1442C>T (p.Pro481Leu)	MECP2 (P246L +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 974845	NM_001110792.2(MECP2):c.1440dup (p.Pro481fs)	MECP2 (P376fs +2 more)	Duplication (frameshift variant)	Syndromic X-linked intellectual disability Lubs type +1 more	GPathogenic/Likely pathogenic
Select item 138196	NM_001110792.2(MECP2):c.1440G>A (p.Arg480=)	MECP2	Single nucleotide variant (synonymous variant)	Rett syndrome	GLikely benignFDA Recognized database
Select item 1165248	NM_001110792.2(MECP2):c.1439G>C (p.Arg480Thr)	MECP2 (R245T +3 more)	Single nucleotide variant (missense variant)	Severe neonatal-onset encephalopathy with microcephaly	GBenign
Select item 833596	NM_001110792.2(MECP2):c.1427C>T (p.Ser476Phe)	MECP2 (S371F +3 more)	Single nucleotide variant (missense variant)	Severe neonatal-onset encephalopathy with microcephaly	GLikely benign
Select item 1557919	NM_001110792.2(MECP2):c.1419T>C (p.Ile473=)	MECP2	Single nucleotide variant (synonymous variant)	Severe neonatal-onset encephalopathy with microcephaly	GLikely benign
Select item 2903455	NM_001110792.2(MECP2):c.1414G>C (p.Asp472His)	MECP2 (D237H +3 more)	Single nucleotide variant (missense variant)	Severe neonatal-onset encephalopathy with microcephaly	GBenign
Select item 1008696	NM_001110792.2(MECP2):c.1414G>T (p.Asp472Tyr)	MECP2 (D237Y +3 more)	Single nucleotide variant (missense variant)	Severe neonatal-onset encephalopathy with microcephaly	GUncertain significance
Select item 3022308	NM_001110792.2(MECP2):c.1412A>C (p.Lys471Thr)	MECP2 (K236T +3 more)	Single nucleotide variant (missense variant)	Severe neonatal-onset encephalopathy with microcephaly	GLikely benign
Select item 289734	NM_001110792.2(MECP2):c.1410C>T (p.Arg470=)	MECP2	Single nucleotide variant (synonymous variant)	Rett syndrome	GLikely benignFDA Recognized database
Select item 95193	NM_001110792.2(MECP2):c.1409G>A (p.Arg470His)	MECP2 (R458H +3 more)	Single nucleotide variant (missense variant)	Rett syndrome +6 more	GBenign/Likely benign
Select item 143470	NM_001110792.2(MECP2):c.1408C>T (p.Arg470Cys)	MECP2 (R458C +3 more)	Single nucleotide variant (missense variant)	Severe neonatal-onset encephalopathy with microcephaly +1 more	GLikely benign
Select item 2718033	NM_001110792.2(MECP2):c.1401G>A (p.Glu467=)	MECP2	Single nucleotide variant (synonymous variant)	Severe neonatal-onset encephalopathy with microcephaly	GLikely benign
Select item 1114532	NM_001110792.2(MECP2):c.1393C>A (p.Arg465=)	MECP2	Single nucleotide variant (synonymous variant)	Severe neonatal-onset encephalopathy with microcephaly	GLikely benign
Select item 2016117	NM_001110792.2(MECP2):c.1392C>A (p.His464Gln)	MECP2 (H452Q +3 more)	Single nucleotide variant (missense variant)	Severe neonatal-onset encephalopathy with microcephaly	GUncertain significance
Select item 536587	NM_001110792.2(MECP2):c.1384dup (p.Tyr462fs)	MECP2 (Y357fs +3 more)	Duplication (frameshift variant)	Severe neonatal-onset encephalopathy with microcephaly	GPathogenic
Select item 1043602	NM_001110792.2(MECP2):c.1384T>C (p.Tyr462His)	MECP2 (Y227H +3 more)	Single nucleotide variant (missense variant)	Severe neonatal-onset encephalopathy with microcephaly	GUncertain significance
Select item 2026358	NM_001110792.2(MECP2):c.1377A>C (p.Ala459=)	MECP2	Single nucleotide variant (synonymous variant)	Severe neonatal-onset encephalopathy with microcephaly	GLikely benign
Select item 143466	NM_001110792.2(MECP2):c.1376C>T (p.Ala459Val)	MECP2 (A447V +3 more)	Single nucleotide variant (missense variant)	Severe neonatal-onset encephalopathy with microcephaly +1 more	GConflicting classifications of pathogenicity
Select item 143465	NM_001110792.2(MECP2):c.1375G>A (p.Ala459Thr)	MECP2 (A447T +3 more)	Single nucleotide variant (missense variant)	Rett syndrome	GBenignFDA Recognized database
Select item 512967	NM_001110792.2(MECP2):c.1374C>T (p.Ala458=)	MECP2	Single nucleotide variant (synonymous variant)	Severe neonatal-onset encephalopathy with microcephaly +1 more	GLikely benign
Select item 1009081	NM_001110792.2(MECP2):c.1373C>T (p.Ala458Val)	MECP2 (A223V +3 more)	Single nucleotide variant (missense variant)	Severe neonatal-onset encephalopathy with microcephaly	GLikely benign
Select item 1134262	NM_001110792.2(MECP2):c.1371G>C (p.Thr457=)	MECP2	Single nucleotide variant (synonymous variant)	Severe neonatal-onset encephalopathy with microcephaly	GLikely benign
Select item 95192	NM_001110792.2(MECP2):c.1371G>A (p.Thr457=)	MECP2	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 143460	NM_001110792.2(MECP2):c.1362_1370del (p.454TAA[1])	MECP2	Deletion (inframe_deletion)	Rett syndrome +1 more	GBenign/Likely benign
Select item 2847232	NM_001110792.2(MECP2):c.1363GCC[1] (p.Ala456del)	MECP2 (A351del +3 more)	Microsatellite (inframe_deletion)	not provided +1 more	GUncertain significance
Select item 2981370	NM_001110792.2(MECP2):c.1367C>T (p.Ala456Val)	MECP2 (A444V +3 more)	Single nucleotide variant (missense variant)	Severe neonatal-onset encephalopathy with microcephaly	GUncertain significance
Select item 95191	NM_001110792.2(MECP2):c.1366G>A (p.Ala456Thr)	MECP2 (A444T +3 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 2716332	NM_001110792.2(MECP2):c.1223_1365del (p.Ser408fs)	MECP2 (S173fs +3 more)	Deletion (frameshift variant)	Severe neonatal-onset encephalopathy with microcephaly	GPathogenic
Select item 700440	NM_001110792.2(MECP2):c.1365C>T (p.Ala455=)	MECP2	Single nucleotide variant (synonymous variant)	Severe neonatal-onset encephalopathy with microcephaly +1 more	GBenign/Likely benign
Select item 2839273	NM_001110792.2(MECP2):c.1007_1364del (p.Leu336fs)	MECP2 (L336fs +3 more)	Deletion (frameshift variant)	Severe neonatal-onset encephalopathy with microcephaly	GPathogenic
Select item 211456	NM_001110792.2(MECP2):c.1364C>T (p.Ala455Val)	MECP2 (A443V +3 more)	Single nucleotide variant (missense variant)	Severe neonatal-onset encephalopathy with microcephaly +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	GBenignFDA Recognized database
Select item 1560680	NM_001110792.2(MECP2):c.1362C>G (p.Thr454=)	MECP2	Single nucleotide variant (synonymous variant)	Severe neonatal-onset encephalopathy with microcephaly	GLikely benign
Select item 143463	NM_001110792.2(MECP2):c.1362C>T (p.Thr454=)	MECP2	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 2701187	NM_001110792.2(MECP2):c.1361C>A (p.Thr454Asn)	MECP2 (T442N +3 more)	Single nucleotide variant (missense variant)	Severe neonatal-onset encephalopathy with microcephaly	GUncertain significance
Select item 1167124	NM_001110792.2(MECP2):c.1359C>T (p.Ala453=)	MECP2	Single nucleotide variant (synonymous variant)	Severe neonatal-onset encephalopathy with microcephaly	GBenign
Select item 536583	NM_001110792.2(MECP2):c.1151_1357del (p.His384_Ala453delinsPro)	MECP2	Deletion (inframe_indel)	Severe neonatal-onset encephalopathy with microcephaly	GUncertain significance
Select item 1407645	NM_001110792.2(MECP2):c.1354G>C (p.Val452Leu)	MECP2 (V217L +3 more)	Single nucleotide variant (missense variant)	Severe neonatal-onset encephalopathy with microcephaly	GUncertain significance
Select item 536581	NM_001110792.2(MECP2):c.1352_1353del (p.Ala451fs)	MECP2 (A451fs +3 more)	Microsatellite (frameshift variant)	Severe neonatal-onset encephalopathy with microcephaly	GPathogenic
Select item 506488	NM_001110792.2(MECP2):c.1353G>A (p.Ala451=)	MECP2	Single nucleotide variant (synonymous variant)	Severe neonatal-onset encephalopathy with microcephaly +1 more	GBenign/Likely benign
Select item 1207353	NM_001110792.2(MECP2):c.1352C>T (p.Ala451Val)	MECP2 (A216V +3 more)	Single nucleotide variant (missense variant)	Rett syndrome +2 more	GBenign/Likely benign
Select item 143458	NM_001110792.2(MECP2):c.1351G>A (p.Ala451Thr)	MECP2 (A439T +3 more)	Single nucleotide variant (missense variant)	not specified +4 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	GBenignFDA Recognized database
Select item 1157770	NM_001110792.2(MECP2):c.1350C>T (p.Pro450=)	MECP2	Single nucleotide variant (synonymous variant)	Severe neonatal-onset encephalopathy with microcephaly	GLikely benign
Select item 590108	NM_001110792.2(MECP2):c.1345C>A (p.Gln449Lys)	MECP2 (Q437K +3 more)	Single nucleotide variant (missense variant)	Rett syndrome	GLikely benignFDA Recognized database
Select item 143457	NM_001110792.2(MECP2):c.1344_1345del (p.Gln449fs)	MECP2 (Q437fs +3 more)	Deletion (frameshift variant)	Rett syndrome +1 more	GPathogenic
Select item 1536520	NM_001110792.2(MECP2):c.1341G>A (p.Lys447=)	MECP2	Single nucleotide variant (synonymous variant)	Severe neonatal-onset encephalopathy with microcephaly	GLikely benign
Select item 2091816	NM_001110792.2(MECP2):c.1331A>G (p.Glu444Gly)	MECP2 (E339G +3 more)	Single nucleotide variant (missense variant)	Severe neonatal-onset encephalopathy with microcephaly	GUncertain significance
Select item 1458514	NM_001110792.2(MECP2):c.1328dup (p.Glu444fs)	MECP2 (E444fs +3 more)	Duplication (frameshift variant)	Severe neonatal-onset encephalopathy with microcephaly	GPathogenic
Select item 700039	NM_001110792.2(MECP2):c.1327A>C (p.Lys443Gln)	MECP2 (K431Q +3 more)	Single nucleotide variant (missense variant)	Severe neonatal-onset encephalopathy with microcephaly	GBenign
Select item 764608	NM_001110792.2(MECP2):c.1326C>T (p.Pro442=)	MECP2	Single nucleotide variant (synonymous variant)	Severe neonatal-onset encephalopathy with microcephaly	GLikely benign
Select item 536588	NM_001110792.2(MECP2):c.1325C>T (p.Pro442Leu)	MECP2 (P430L +3 more)	Single nucleotide variant (missense variant)	Severe neonatal-onset encephalopathy with microcephaly	GBenign
Select item 143456	NM_001110792.2(MECP2):c.1324C>T (p.Pro442Ser)	MECP2 (P430S +3 more)	Single nucleotide variant (missense variant)	Severe neonatal-onset encephalopathy with microcephaly +1 more	GBenign
Select item 1596057	NM_001110792.2(MECP2):c.1323C>T (p.Cys441=)	MECP2	Single nucleotide variant (synonymous variant)	Severe neonatal-onset encephalopathy with microcephaly	GLikely benign
Select item 143455	NM_001110792.2(MECP2):c.1320C>T (p.Gly440=)	MECP2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 959027	NM_001110792.2(MECP2):c.1316_1318del (p.Asp439del)	MECP2 (D334del +2 more)	Deletion (inframe_deletion)	Severe neonatal-onset encephalopathy with microcephaly	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	GBenignFDA Recognized database
Select item 1599696	NM_001110792.2(MECP2):c.1317C>T (p.Asp439=)	MECP2	Single nucleotide variant (synonymous variant)	Severe neonatal-onset encephalopathy with microcephaly	GBenign
Select item 573692	NM_001110792.2(MECP2):c.1315G>A (p.Asp439Asn)	MECP2 (D427N +3 more)	Single nucleotide variant (missense variant)	Severe neonatal-onset encephalopathy with microcephaly	GLikely benign
Select item 143454	NM_001110792.2(MECP2):c.1314C>T (p.Ser438=)	MECP2	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 2043982	NM_001110792.2(MECP2):c.1222_1313del (p.Ser408fs)	MECP2 (S408fs +3 more)	Deletion (frameshift variant)	Severe neonatal-onset encephalopathy with microcephaly	GPathogenic
Select item 1085578	NM_001110792.2(MECP2):c.1311G>A (p.Glu437=)	MECP2	Single nucleotide variant (synonymous variant)	Severe neonatal-onset encephalopathy with microcephaly	GLikely benign
Select item 1168884	NM_001110792.2(MECP2):c.1303T>C (p.Ser435Pro)	MECP2 (S200P +3 more)	Single nucleotide variant (missense variant)	Severe neonatal-onset encephalopathy with microcephaly +1 more	GBenign/Likely benign
Select item 1594520	NM_001110792.2(MECP2):c.1302C>G (p.Gly434=)	MECP2	Single nucleotide variant (synonymous variant)	Severe neonatal-onset encephalopathy with microcephaly	GLikely benign
Select item 143452	NM_001110792.2(MECP2):c.1302C>T (p.Gly434=)	MECP2	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign/Likely benign
Select item 843286	NM_001110792.2(MECP2):c.1301G>A (p.Gly434Asp)	MECP2 (G422D +3 more)	Single nucleotide variant (missense variant)	Severe neonatal-onset encephalopathy with microcephaly	GLikely benign
Select item 2063737	NM_001110792.2(MECP2):c.1075_1300delinsCCAAAGGCCCCCGTGCCACT (p.Lys359fs)	MECP2 (K359fs +3 more)	Indel (frameshift variant)	Severe neonatal-onset encephalopathy with microcephaly	GPathogenic
Select item 699966	NM_001110792.2(MECP2):c.1293C>T (p.Pro431=)	MECP2	Single nucleotide variant (synonymous variant)	Severe neonatal-onset encephalopathy with microcephaly +4 more	GBenign/Likely benign
Select item 1638023	NM_001110792.2(MECP2):c.1292C>T (p.Pro431Leu)	MECP2 (P196L +3 more)	Single nucleotide variant (missense variant)	Severe neonatal-onset encephalopathy with microcephaly +1 more	GConflicting classifications of pathogenicity
Select item 156634	NM_001110792.2(MECP2):c.1291C>T (p.Pro431Ser)	MECP2 (P419S +3 more)	Single nucleotide variant (missense variant)	Rett syndrome	GBenignFDA Recognized database
Select item 1010655	NM_001110792.2(MECP2):c.1289T>C (p.Met430Thr)	MECP2 (M195T +3 more)	Single nucleotide variant (missense variant)	Severe neonatal-onset encephalopathy with microcephaly +1 more	GConflicting classifications of pathogenicity

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