"GeneDx"[submitter] AND "MECP2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145168	GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1	LOC125467786, LOC125467787 +1203 more	Copy number loss	See cases	GPathogenic
Select item 58668	GRCh38/hg38 Xq25-28(chrX:123731372-155687381)x3	MIR2114, MIR224 +718 more	Copy number gain	See cases	GPathogenic
Select item 58708	GRCh38/hg38 Xq28(chrX:153395425-155687381)x2	BCAP31, BGN +200 more	Copy number gain	See cases	GPathogenic
Select item 58709	GRCh38/hg38 Xq28(chrX:153504314-154144797)x2	ABCD1, ARHGAP4 +67 more	Copy number gain	See cases	GPathogenic
Select item 58740	GRCh38/hg38 Xq28(chrX:153769547-154394658)x2	ARHGAP4, AVPR2 +64 more	Copy number gain	See cases	GPathogenic
Select item 58741	GRCh38/hg38 Xq28(chrX:153777340-154397779)x3	ARHGAP4, AVPR2 +66 more	Copy number gain	See cases	GPathogenic
Select item 58742	GRCh38/hg38 Xq28(chrX:153787044-154397779)x2	ARHGAP4, AVPR2 +64 more	Copy number gain	See cases	GPathogenic
Select item 3370620	NM_001110792.2(MECP2):c.*586C>T	MECP2	Single nucleotide variant (3 prime UTR variant)	not provided	GUncertain significance
Select item 380437	NM_001110792.2(MECP2):c.*16A>G	MECP2	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 95182	NM_001110792.2(MECP2):c.*14G>A	MECP2	Single nucleotide variant (3 prime UTR variant)	Rett syndrome	GBenign FDA Recognized database
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)	Rett syndrome +3 more	GBenign
Select item 1214581	NM_001110792.2(MECP2):c.*4T>C	MECP2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 378125	NM_001110792.2(MECP2):c.*1C>G	MECP2	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 143482	NM_001110792.2(MECP2):c.1486_1489del (p.Arg496fs)	MECP2 (R496fs +3 more)	Microsatellite (frameshift variant)	Rett syndrome +1 more	GPathogenic
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 133342	NM_001110792.2(MECP2):c.1483G>T (p.Glu495Ter)	MECP2 (E483* +3 more)	Single nucleotide variant (nonsense)	Rett syndrome	GUncertain significance FDA Recognized database
Select item 36492	NM_001110792.2(MECP2):c.1477G>A (p.Val493Met)	MECP2 (V481M +3 more)	Single nucleotide variant (missense variant)	Rett syndrome	GLikely benign FDA Recognized database
Select item 138197	NM_001110792.2(MECP2):c.1473G>A (p.Thr491=)	MECP2	Single nucleotide variant (synonymous variant)	not provided +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 benign FDA Recognized database
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	GBenign FDA Recognized database
Select item 2579519	NM_001110792.2(MECP2):c.1451_1452dup (p.Glu485fs)	MECP2 (E250fs +3 more)	Microsatellite (frameshift variant)	not provided	GPathogenic
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 1312147	NM_001110792.2(MECP2):c.1445A>T (p.Asn482Ile)	MECP2 (N247I +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369937	NM_001110792.2(MECP2):c.1444A>G (p.Asn482Asp)	MECP2 (N247D +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 138196	NM_001110792.2(MECP2):c.1440G>A (p.Arg480=)	MECP2	Single nucleotide variant (synonymous variant)	Rett syndrome	GLikely benign FDA Recognized database
Select item 1695728	NM_001110792.2(MECP2):c.1412A>G (p.Lys471Arg)	MECP2 (K236R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 95193	NM_001110792.2(MECP2):c.1409G>A (p.Arg470His)	MECP2 (R458H +3 more)	Single nucleotide variant (missense variant)	not provided +6 more	GBenign/Likely benign
Select item 3340228	NM_001110792.2(MECP2):c.1398G>T (p.Gly466=)	MECP2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
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 2500468	NM_001110792.2(MECP2):c.1382A>G (p.Lys461Arg)	MECP2 (K226R +3 more)	Single nucleotide variant (missense variant)	not provided	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 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 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 3342456	NM_001110792.2(MECP2):c.1370C>T (p.Thr457Met)	MECP2 (T222M +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1213085	NM_001110792.2(MECP2):c.1369A>G (p.Thr457Ala)	MECP2 (T222A +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 514354	NM_001110792.2(MECP2):c.1368C>T (p.Ala456=)	MECP2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 95191	NM_001110792.2(MECP2):c.1366G>A (p.Ala456Thr)	MECP2 (A444T +3 more)	Single nucleotide variant (missense variant)	Severe neonatal-onset encephalopathy with microcephaly +3 more	GBenign/Likely benign
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 143463	NM_001110792.2(MECP2):c.1362C>T (p.Thr454=)	MECP2	Single nucleotide variant (synonymous variant)	Severe neonatal-onset encephalopathy with microcephaly +3 more	GBenign
Select item 817456	NM_001110792.2(MECP2):c.1354dup (p.Val452fs)	MECP2 (V440fs +3 more)	Duplication (frameshift variant)	not provided	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)	Rett syndrome +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	GBenign FDA Recognized database
Select item 1697073	NM_001110792.2(MECP2):c.1337C>G (p.Ala446Gly)	MECP2 (A211G +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 503766	NM_004992.3(MECP2):c.1009_1294del286ins41 (p.?)	MECP2	Indel	not provided	GPathogenic
Select item 156618	NM_001110792.2(MECP2):c.1326dup (p.Lys443fs)	MECP2 (K431fs +3 more)	Duplication (frameshift variant)	not provided	GPathogenic
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 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 143454	NM_001110792.2(MECP2):c.1314C>T (p.Ser438=)	MECP2	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 1187210	NM_001110792.2(MECP2):c.1313G>A (p.Ser438Asn)	MECP2 (S203N +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3373451	NM_001110792.2(MECP2):c.1312A>G (p.Ser438Gly)	MECP2 (S203G +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 156617	NM_001110792.2(MECP2):c.1197_1302del (p.Pro400fs)	MECP2 (P295fs +3 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 143452	NM_001110792.2(MECP2):c.1302C>T (p.Gly434=)	MECP2	Single nucleotide variant (synonymous variant)	Severe neonatal-onset encephalopathy with microcephaly +5 more	GBenign/Likely benign
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 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
Select item 143450	NM_001110792.2(MECP2):c.1286A>T (p.Lys429Met)	MECP2 (K417M +3 more)	Single nucleotide variant (missense variant)	Rett syndrome	GUncertain significance FDA Recognized database
Select item 143449	NM_001110792.2(MECP2):c.1275C>T (p.Cys425=)	MECP2	Single nucleotide variant (synonymous variant)	Rett syndrome +2 more	GBenign/Likely benign
Select item 211455	NM_001110792.2(MECP2):c.1273T>C (p.Cys425Arg)	MECP2 (C413R +3 more)	Single nucleotide variant (missense variant)	Rett syndrome	GUncertain significance FDA Recognized database
Select item 1041240	NM_001110792.2(MECP2):c.1271T>G (p.Val424Gly)	MECP2 (V189G +3 more)	Single nucleotide variant (missense variant)	Severe neonatal-onset encephalopathy with microcephaly +1 more	GConflicting classifications of pathogenicity
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 935322	NM_001110792.2(MECP2):c.1261AGC[2] (p.Ser423del)	MECP2 (S423del +2 more)	Microsatellite (inframe_deletion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 95189	NM_001110792.2(MECP2):c.1269C>T (p.Ser423=)	MECP2	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
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 143441	NM_001110792.2(MECP2):c.1252C>T (p.Gln418Ter)	MECP2 (Q406* +3 more)	Single nucleotide variant (nonsense)	Severe neonatal-onset encephalopathy with microcephaly +2 more	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 143438	NM_001110792.2(MECP2):c.1250C>T (p.Pro417Leu)	MECP2 (P405L +3 more)	Single nucleotide variant (missense variant)	Rett syndrome	GBenign FDA Recognized database
Select item 189662	NM_001110792.2(MECP2):c.1195_1246del (p.Pro399fs)	MECP2 (P387fs +3 more)	Deletion (frameshift variant)	Severe neonatal-onset encephalopathy with microcephaly +2 more	GPathogenic/Likely 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 424171	NM_001110792.2(MECP2):c.1245del (p.Glu416fs)	MECP2 (E404fs +3 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1212000	NM_001110792.2(MECP2):c.1244C>G (p.Pro415Arg)	MECP2 (P180R +3 more)	Single nucleotide variant (missense variant)	Rett syndrome	GLikely benign FDA Recognized database
Select item 932646	NM_001110792.2(MECP2):c.1244del (p.Pro415fs)	MECP2 (P403fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
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 2122595	NM_001110792.2(MECP2):c.1243C>T (p.Pro415Ser)	MECP2 (P415S +3 more)	Single nucleotide variant (missense variant)	Severe neonatal-onset encephalopathy with microcephaly +1 more	GConflicting classifications of pathogenicity
Select item 1301354	NM_001110792.2(MECP2):c.1209_1243del (p.Pro403_Glu404insTer)	MECP2	Deletion (frameshift variant)	Rett syndrome +2 more	GPathogenic
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 143437	NM_001110792.2(MECP2):c.1242C>T (p.Pro414=)	MECP2	Single nucleotide variant (synonymous variant)	Rett syndrome +2 more	GBenign/Likely benign
Select item 1321032	NM_001110792.2(MECP2):c.1241C>G (p.Pro414Arg)	MECP2 (P179R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 379509	NM_001110792.2(MECP2):c.1240C>A (p.Pro414Thr)	MECP2 (P402T +3 more)	Single nucleotide variant (missense variant)	Severe neonatal-onset encephalopathy with microcephaly +1 more	GBenign/Likely benign
Select item 382274	NM_001110792.2(MECP2):c.1239C>T (p.Ser413=)	MECP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 143388	NM_001110792.2(MECP2):c.1196_1236del (p.Pro399fs)	MECP2 (P294fs +3 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 143372	NM_001110792.2(MECP2):c.1193_1236del (p.Leu398fs)	MECP2 (L398fs +2 more)	Deletion (frameshift variant)	MECP2-related disorder +3 more	GPathogenic
Select item 143360	NM_001110792.2(MECP2):c.1191_1236del (p.Leu398fs)	MECP2 (L293fs +2 more)	Deletion (frameshift variant)	Syndromic X-linked intellectual disability Lubs type +3 more	GPathogenic/Likely pathogenic
Select item 1207149	NM_001110792.2(MECP2):c.1235C>T (p.Thr412Ile)	MECP2 (T177I +3 more)	Single nucleotide variant (missense variant)	Severe neonatal-onset encephalopathy with microcephaly +1 more	GLikely benign
Select item 156615	NM_001110792.2(MECP2):c.1165_1234del (p.Lys389fs)	MECP2 (K389fs +3 more)	Deletion (frameshift variant)	Rett syndrome	GUncertain significance FDA Recognized database
Select item 143402	NM_001110792.2(MECP2):c.1199_1233del (p.Pro400fs)	MECP2 (P295fs +3 more)	Deletion (frameshift variant)	Rett syndrome +2 more	GPathogenic/Likely pathogenic
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 95188	NM_001110792.2(MECP2):c.1233C>T (p.Pro411=)	MECP2	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 143430	NM_001110792.2(MECP2):c.1232C>T (p.Pro411Leu)	MECP2 (P399L +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
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 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 1456358	NM_001110792.2(MECP2):c.1200_1224del (p.Pro401fs)	MECP2 (P166fs +3 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 1310670	NM_001110792.2(MECP2):c.1198_1224del (p.Pro400_Ser408del)	MECP2	Deletion (inframe_deletion)	not provided +1 more	GUncertain significance
Select item 211453	NM_001110792.2(MECP2):c.1224C>T (p.Ser408=)	MECP2	Single nucleotide variant (synonymous variant)	Rett syndrome	GBenign FDA Recognized database

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