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

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 189634	nsv1197494	IRAK1, LOC130068849 +4 more	Deletion	Rett syndrome	GPathogenic
Select item 189680	NC_000023.11:g.154016489_154067020delinsTTTCCGACAAAGGT	IRAK1, LOC130068849 +4 more	Indel	Rett syndrome	GPathogenic
Select item 143301	NM_004992.3(MECP2):c.1-?dup	MECP2	Duplication	Rett syndrome	GUncertain significance
Select item 143289	NM_001110792.2(MECP2):c.*8503dup	MECP2	Duplication (3 prime UTR variant)	Rett syndrome	GBenign
Select item 143288	NM_001110792.2(MECP2):c.*8503del	MECP2	Deletion (3 prime UTR variant)	Rett syndrome	GBenign
Select item 143287	NM_001110792.2(MECP2):c.*8500C>G	MECP2	Single nucleotide variant (3 prime UTR variant)	Rett syndrome	GUncertain significance
Select item 143283	NM_001110792.2(MECP2):c.*7856A>C	MECP2	Single nucleotide variant (3 prime UTR variant)	Rett syndrome +1 more	GBenign
Select item 143282	NM_001110792.2(MECP2):c.*7748C>T	MECP2	Single nucleotide variant (3 prime UTR variant)	Rett syndrome	GBenign
Select item 143280	NM_001110792.2(MECP2):c.*5839C>T	MECP2	Single nucleotide variant (3 prime UTR variant)	Rett syndrome	GLikely benign
Select item 143277	NM_001110792.2(MECP2):c.*5478AT[6]	MECP2	Microsatellite (3 prime UTR variant)	Rett syndrome	GBenign
Select item 143275	NM_001110792.2(MECP2):c.*5348T>C	MECP2	Single nucleotide variant (3 prime UTR variant)	Rett syndrome +1 more	GBenign/Likely benign
Select item 189693	NM_004992.3(MECP2):c.27-12521_*5072del	MECP2	Deletion	Rett syndrome	GPathogenic
Select item 143271	NM_001110792.2(MECP2):c.*4576A>C	MECP2	Single nucleotide variant (3 prime UTR variant)	Rett syndrome	GBenign
Select item 143270	NM_001110792.2(MECP2):c.*4084GT[1]	MECP2	Microsatellite (3 prime UTR variant)	Rett syndrome	GUncertain significance
Select item 143268	NM_001110792.2(MECP2):c.*3878G>C	MECP2	Single nucleotide variant (3 prime UTR variant)	Rett syndrome +1 more	GBenign
Select item 143265	NM_001110792.2(MECP2):c.*3662A>G	MECP2	Single nucleotide variant (3 prime UTR variant)	Rett syndrome	GBenign
Select item 143264	NM_001110792.2(MECP2):c.*3658C>T	MECP2	Single nucleotide variant (3 prime UTR variant)	Rett syndrome	GBenign
Select item 143261	NM_001110792.2(MECP2):c.*3477G>A	MECP2	Single nucleotide variant (3 prime UTR variant)	Rett syndrome	GBenign
Select item 143259	NM_001110792.2(MECP2):c.*2956G>A	MECP2	Single nucleotide variant (3 prime UTR variant)	Rett syndrome	GBenign
Select item 143258	NM_001110792.2(MECP2):c.*2706G>A	MECP2	Single nucleotide variant (3 prime UTR variant)	Rett syndrome +1 more	GBenign/Likely benign
Select item 143257	NM_001110792.2(MECP2):c.*2657G>A	MECP2	Single nucleotide variant (3 prime UTR variant)	Rett syndrome	GBenign
Select item 143256	NM_001110792.2(MECP2):c.*2556T>A	MECP2	Single nucleotide variant (3 prime UTR variant)	Rett syndrome	GBenign
Select item 189644	NM_001110792.2(MECP2):c.1114_*2524del (p.Ser372fs)	MECP2 (S372fs +3 more)	Deletion (frameshift variant)	Rett syndrome	GPathogenic
Select item 143253	NM_001110792.2(MECP2):c.*1737G>A	MECP2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 143252	NM_001110792.2(MECP2):c.*1368C>A	MECP2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 143251	NM_001110792.2(MECP2):c.*1237T>C	MECP2	Single nucleotide variant (3 prime UTR variant)	Rett syndrome	GBenign
Select item 143249	NM_001110792.2(MECP2):c.*1134G>A	MECP2	Single nucleotide variant (3 prime UTR variant)	Rett syndrome	GUncertain significance
Select item 189661	NM_001110792.2(MECP2):c.1193_*944del (p.Leu398fs)	MECP2 (L398fs +3 more)	Deletion (frameshift variant)	Rett syndrome	GLikely pathogenic
Select item 143292	NM_001110792.2(MECP2):c.*878C>G	MECP2	Single nucleotide variant (3 prime UTR variant)	Rett syndrome +1 more	GBenign
Select item 143291	NM_001110792.2(MECP2):c.*875dup	MECP2	Duplication (3 prime UTR variant)	Rett syndrome	GUncertain significance
Select item 143290	NM_001110792.2(MECP2):c.*861T>G	MECP2	Single nucleotide variant (3 prime UTR variant)	Rett syndrome	GBenign
Select item 143286	NM_001110792.2(MECP2):c.*831G>C	MECP2	Single nucleotide variant (3 prime UTR variant)	Rett syndrome	GLikely benign
Select item 143284	NM_001110792.2(MECP2):c.796_822del	MECP2	Deletion (3 prime UTR variant)	not provided	Gnot provided
Select item 143285	NM_001110792.2(MECP2):c.*806G>A	MECP2	Single nucleotide variant (3 prime UTR variant)	MECP2-related disorder +2 more	GLikely benign
Select item 143281	NM_001110792.2(MECP2):c.*767G>T	MECP2	Single nucleotide variant (3 prime UTR variant)	Rett syndrome	GUncertain significance
Select item 189696	NM_004992.3(MECP2):c.27-4722_*739delins43	MECP2	Indel	Rett syndrome	GPathogenic
Select item 189656	NM_001110792.2(MECP2):c.1165_*568delinsCCGTGG (p.Lys389fs)	MECP2 (K389fs +1 more)	Indel (frameshift variant)	Rett syndrome	GLikely pathogenic
Select item 143278	NM_001110792.2(MECP2):c.*554G>A	MECP2	Single nucleotide variant (3 prime UTR variant)	Rett syndrome	GBenign
Select item 143276	NM_001110792.2(MECP2):c.*544G>A	MECP2	Single nucleotide variant (3 prime UTR variant)	Rett syndrome	GBenign
Select item 143274	NM_001110792.2(MECP2):c.*529G>T	MECP2	Single nucleotide variant (3 prime UTR variant)	Rett syndrome	GBenign
Select item 143273	NM_001110792.2(MECP2):c.*489G>C	MECP2	Single nucleotide variant (3 prime UTR variant)	Rett syndrome +1 more	GBenign
Select item 143272	NM_001110792.2(MECP2):c.*487G>C	MECP2	Single nucleotide variant (3 prime UTR variant)	Rett syndrome	GBenign
Select item 143269	NM_001110792.2(MECP2):c.*393G>A	MECP2	Single nucleotide variant (3 prime UTR variant)	Rett syndrome	GBenign
Select item 143267	NM_001110792.2(MECP2):c.*371G>C	MECP2	Single nucleotide variant (3 prime UTR variant)	Rett syndrome +1 more	GBenign/Likely benign
Select item 143263	NM_001110792.2(MECP2):c.*363G>C	MECP2	Single nucleotide variant (3 prime UTR variant)	Rett syndrome	GBenign
Select item 143262	NM_001110792.2(MECP2):c.*359G>C	MECP2	Single nucleotide variant (3 prime UTR variant)	Rett syndrome	GBenign
Select item 143260	NM_001110792.2(MECP2):c.*328G>A	MECP2	Single nucleotide variant (3 prime UTR variant)	Rett syndrome +1 more	GBenign
Select item 143255	NM_001110792.2(MECP2):c.*204G>A	MECP2	Single nucleotide variant (3 prime UTR variant)	Rett syndrome	GUncertain significance
Select item 143254	NM_001110792.2(MECP2):c.*177G>C	MECP2	Single nucleotide variant (3 prime UTR variant)	Rett syndrome	GBenign
Select item 189722	NM_001110792.2(MECP2):c.843_*125del (p.Gly281_Ter499delinsXaa)	MECP2	Deletion (stop lost)	Rett syndrome	GLikely pathogenic
Select item 143250	NM_001110792.2(MECP2):c.*122del	MECP2	Deletion (3 prime UTR variant)	Rett syndrome	GLikely benign
Select item 189671	NM_004992.3(MECP2):c.1276_*113del299ins3	MECP2	Indel	Rett syndrome	GPathogenic
Select item 189695	NM_004992.3(MECP2):c.27-4722_*112delinsCACTTTGTG	MECP2	Indel	Rett syndrome	GPathogenic
Select item 143297	NM_001110792.2(MECP2):c.*98dup	MECP2	Duplication (3 prime UTR variant)	Rett syndrome	GBenign/Likely benign
Select item 143296	NM_001110792.2(MECP2):c.*93G>A	MECP2	Single nucleotide variant (3 prime UTR variant)	Rett syndrome	GBenign
Select item 143295	NM_001110792.2(MECP2):c.*92C>T	MECP2	Single nucleotide variant (3 prime UTR variant)	Rett syndrome	GUncertain significance
Select item 143294	NM_001110792.2(MECP2):c.*92C>G	MECP2	Single nucleotide variant (3 prime UTR variant)	Rett syndrome	GUncertain significance
Select item 143279	NM_001110792.2(MECP2):c.*55C>G	MECP2	Single nucleotide variant (3 prime UTR variant)	Rett syndrome	GBenign
Select item 189664	NM_001110792.2(MECP2):c.1199_*39del (p.Pro400fs)	MECP2 (P295fs +3 more)	Deletion (frameshift variant)	Rett syndrome	GPathogenic
Select item 143266	NM_001110792.2(MECP2):c.*36G>C	MECP2	Single nucleotide variant (3 prime UTR variant)	Rett syndrome	GLikely benign
Select item 189660	NM_001110792.2(MECP2):c.1188_*29del (p.Pro396_Ter499delinsXaa)	MECP2	Deletion (stop lost)	Rett syndrome	GLikely pathogenic
Select item 189638	NM_001110792.2(MECP2):c.1077_*29del (p.Lys359_Ter499delinsXaa)	MECP2	Deletion (stop lost)	Rett syndrome	GUncertain significance
Select item 143479	NM_001110792.2(MECP2):c.1484_*29del (p.Glu495fs)	MECP2 (E483fs +3 more)	Deletion (frameshift variant)	not provided	Gnot provided
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 189646	NM_001110792.2(MECP2):c.1133_*13del (p.His378_Ter499delinsXaa)	MECP2	Deletion (stop lost)	Rett syndrome	GUncertain significance
Select item 143481	NM_001110792.2(MECP2):c.1486_*12del (p.Arg496_Ter499del)	MECP2	Deletion (stop lost +1 more)	Rett syndrome	GLikely pathogenic
Select item 143298	NM_001110792.2(MECP2):c.*9G>A	MECP2	Single nucleotide variant (3 prime UTR variant)	History of neurodevelopmental disorder +4 more	GBenign/Likely benign
Select item 143293	NM_001110792.2(MECP2):c.*8C>T	MECP2	Single nucleotide variant (3 prime UTR variant)	not specified	GBenign
Select item 189703	NM_004992.3(MECP2):c.(?_378)_*(1_?)del	MECP2	Deletion	Rett syndrome	GPathogenic
Select item 189672	NM_004992.3(MECP2):c.(?_1336)_*(1_?)del	MECP2	Deletion	Rett syndrome	GPathogenic
Select item 189630	NM_004992.3(MECP2):c.(?_1169)_*(1_?)del	MECP2	Deletion	Rett syndrome	GPathogenic
Select item 189707	NM_001110792.2(MECP2):c.414_1497del (p.Pro139fs)	MECP2 (P139fs +1 more)	Deletion (frameshift variant +5 more)	Rett syndrome	GPathogenic
Select item 143490	NM_001110792.2(MECP2):c.1497A>G (p.Ter499Trp)	MECP2	Single nucleotide variant (stop lost)	Rett syndrome	GLikely pathogenic FDA Recognized database
Select item 143489	NM_001110792.2(MECP2):c.1497A>C (p.Ter499Cys)	MECP2	Single nucleotide variant (stop lost)	Rett syndrome	GLikely pathogenic
Select item 143488	NM_001110792.2(MECP2):c.1496G>T (p.Ter499Leu)	MECP2	Single nucleotide variant (stop lost)	Rett syndrome	GLikely pathogenic
Select item 143487	NM_001110792.2(MECP2):c.1495T>C (p.Ter499Arg)	MECP2	Single nucleotide variant (stop lost)	Rett syndrome	GLikely pathogenic
Select item 189663	NM_001110792.2(MECP2):c.1195_1494del (p.Pro399_Ser498del)	MECP2	Deletion (inframe_deletion)	Rett syndrome	GUncertain significance
Select item 143486	NM_001110792.2(MECP2):c.1491_1492dup (p.Ser498fs)	MECP2 (S393fs +3 more)	Duplication (frameshift variant)	Rett syndrome	GPathogenic
Select item 143485	NM_001110792.2(MECP2):c.1490_1493del (p.Val497fs)	MECP2 (V485fs +3 more)	Deletion (frameshift variant)	Rett syndrome	GPathogenic FDA Recognized database
Select item 143484	NM_001110792.2(MECP2):c.1488_1489dup (p.Val497fs)	MECP2 (V392fs +3 more)	Microsatellite (frameshift variant)	Rett syndrome	GPathogenic
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 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 143478	NM_001110792.2(MECP2):c.1482C>T (p.Thr494=)	MECP2	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 189639	NM_004992.3(MECP2):c.(?_1044)_(1442_?)del	MECP2	Deletion	Rett syndrome	GPathogenic
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 143477	NM_001110792.2(MECP2):c.1474C>T (p.Pro492Ser)	MECP2 (P480S +3 more)	Single nucleotide variant (missense variant)	Rett syndrome +1 more	GBenign
Select item 138197	NM_001110792.2(MECP2):c.1473G>A (p.Thr491=)	MECP2	Single nucleotide variant (synonymous variant)	Rett syndrome +5 more	GBenign/Likely benign
Select item 143476	NM_001110792.2(MECP2):c.1472C>T (p.Thr491Met)	MECP2 (T479M +3 more)	Single nucleotide variant (missense variant)	Rett syndrome	GLikely 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 143475	NM_001110792.2(MECP2):c.1466G>C (p.Ser489Thr)	MECP2 (S477T +3 more)	Single nucleotide variant (missense variant)	Rett syndrome	GUncertain significance FDA Recognized database
Select item 189670	NM_001110792.2(MECP2):c.1307_1452del (p.Leu436fs)	MECP2 (L436fs +3 more)	Deletion (frameshift variant)	Rett syndrome	GLikely pathogenic
Select item 143474	NM_001110792.2(MECP2):c.1451_1452del (p.Glu484fs)	MECP2 (E484fs +3 more)	Microsatellite (frameshift variant)	Rett syndrome +1 more	GPathogenic/Likely pathogenic
Select item 189674	NM_001110792.2(MECP2):c.1444_1447delinsTG (p.Asn482fs)	MECP2 (N470fs +3 more)	Indel (frameshift variant)	Rett syndrome	GUncertain significance
Select item 143472	NM_001110792.2(MECP2):c.1439_1444del (p.Arg480_Pro481del)	MECP2	Deletion (inframe_deletion)	Rett syndrome	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 189754	NM_001110792.2(MECP2):c.1197_1436del (p.Pro400_Pro479del)	MECP2	Deletion (inframe_deletion)	Rett syndrome	GUncertain significance FDA Recognized database
Select item 189667	NM_004992.3(MECP2):c.(?_1169)_(1397_?)del	MECP2	Deletion	Rett syndrome	GPathogenic
Select item 189633	NM_004992.3(MECP2):c.(?_1017)_(1397_?)del	MECP2	Deletion	Rett syndrome	GPathogenic
Select item 189649	NM_004992.3(MECP2):c.1101_(1396_?)del	MECP2	Deletion	Rett syndrome	GPathogenic

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