ClinVar for MedGen (Select 48441) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3252106	NM_001110792.2(MECP2):c.131dup (p.Lys45fs)	MECP2 (K33fs +1 more)	Duplication (frameshift variant +1 more)	Rett syndrome	GPathogenic
Select item 3242559	NM_001110792.2(MECP2):c.766del (p.Gln256fs)	MECP2 (Q151fs +3 more)	Deletion (frameshift variant)	Rett syndrome	GPathogenic
Select item 3242094	NM_005249.5(FOXG1):c.1018C>T (p.Pro340Ser)	FOXG1 (P340S)	Single nucleotide variant (missense variant)	Rett syndrome	GUncertain significance
Select item 3066422	NM_001110792.2(MECP2):c.1374_1390del (p.Ala459fs)	MECP2 (A224fs +3 more)	Deletion (frameshift variant)	Rett syndrome	GLikely pathogenic
Select item 3066421	NM_001110792.2(MECP2):c.1446_1447del (p.Asn482fs)	MECP2 (N377fs +3 more)	Deletion (frameshift variant)	Rett syndrome	GPathogenic
Select item 3066420	NM_001110792.2(MECP2):c.1241_1242insT (p.Pro415_Glu416insTer)	MECP2	Insertion (frameshift variant)	Rett syndrome	GPathogenic
Select item 3066419	NM_001110792.2(MECP2):c.1188_1328del (p.Pro397_Lys443del)	MECP2	Deletion (inframe deletion)	Rett syndrome	GUncertain significance
Select item 3066418	NM_001110792.2(MECP2):c.1040_1209delinsCTGTGTAA (p.Gly347_Pro403delinsAlaValTer)	MECP2	Indel (nonsense)	Rett syndrome	GPathogenic
Select item 3066417	NM_001110792.2(MECP2):c.1420_1421del (p.Val474fs)	MECP2 (V239fs +3 more)	Deletion (frameshift variant)	Rett syndrome	GUncertain significance
Select item 3066416	NM_001110792.2(MECP2):c.1199_1236del (p.Pro400fs)	MECP2 (P165fs +3 more)	Deletion (frameshift variant)	Rett syndrome	GPathogenic
Select item 3066415	NM_001110792.2(MECP2):c.865del (p.Ala289fs)	MECP2 (A184fs +3 more)	Deletion (frameshift variant)	Rett syndrome	GLikely pathogenic
Select item 3066414	NM_001110792.2(MECP2):c.491C>T (p.Pro164Leu)	MECP2 (P152L +2 more)	Single nucleotide variant (missense variant +1 more)	Rett syndrome +1 more	GPathogenic/Likely pathogenic
Select item 3066413	NM_001110792.2(MECP2):c.899_917del (p.Val300fs)	MECP2 (V195fs +3 more)	Deletion (frameshift variant)	Rett syndrome	GPathogenic
Select item 3066412	NM_001110792.2(MECP2):c.856_859dup (p.Val287fs)	MECP2 (V182fs +3 more)	Duplication (frameshift variant)	Rett syndrome	GPathogenic
Select item 3066411	NM_001110792.2(MECP2):c.789_790dup (p.Gly264fs)	MECP2 (G159fs +3 more)	Duplication (frameshift variant)	Rett syndrome	GLikely pathogenic
Select item 3066410	NM_001110792.2(MECP2):c.893_894dup (p.Ala299fs)	MECP2 (A194fs +3 more)	Duplication (frameshift variant)	Rett syndrome	GPathogenic
Select item 3066409	NM_001110792.2(MECP2):c.1193_1220del (p.Leu398fs)	MECP2 (L163fs +3 more)	Deletion (frameshift variant)	Rett syndrome	GPathogenic
Select item 3066408	NM_001110792.2(MECP2):c.1089_1192del (p.Lys364fs)	MECP2 (K129fs +3 more)	Deletion (frameshift variant)	Rett syndrome	GPathogenic
Select item 3066407	NM_001110792.2(MECP2):c.262del (p.Glu88fs)	MECP2 (E76fs +1 more)	Deletion (frameshift variant +1 more)	Rett syndrome	GLikely pathogenic
Select item 3066406	NM_001110792.2(MECP2):c.1121_1233del (p.Pro374fs)	MECP2 (P139fs +3 more)	Deletion (frameshift variant)	Rett syndrome	GPathogenic
Select item 3066405	NM_001110792.2(MECP2):c.203_221del (p.Pro68fs)	MECP2 (P56fs +1 more)	Deletion (5 prime UTR variant +1 more)	Rett syndrome	GPathogenic
Select item 3066404	NM_001110792.2(MECP2):c.1168_1243del (p.Ala390fs)	MECP2 (A155fs +3 more)	Deletion (frameshift variant)	Rett syndrome	GPathogenic
Select item 3066403	NM_001110792.2(MECP2):c.753del (p.Thr252fs)	MECP2 (T147fs +3 more)	Deletion (frameshift variant)	Rett syndrome	GPathogenic
Select item 3066402	NM_001110792.2(MECP2):c.426dup (p.Ala143fs)	MECP2 (A131fs +2 more)	Duplication (frameshift variant +1 more)	Rett syndrome	GPathogenic
Select item 3066401	NM_001110792.2(MECP2):c.514dup (p.Thr172fs)	MECP2 (T160fs +2 more)	Duplication (frameshift variant +1 more)	Rett syndrome	GLikely pathogenic
Select item 3066400	NM_001110792.2(MECP2):c.-7_62del (p.Met1_Leu21del)	LOC130068854, MECP2	Deletion (initiator_codon_variant +2 more)	Rett syndrome	GLikely pathogenic
Select item 3066399	NM_001110792.2(MECP2):c.571C>T (p.Pro191Ser)	MECP2 (P179S +2 more)	Single nucleotide variant (missense variant +1 more)	Rett syndrome	GUncertain significance
Select item 3066398	NM_001110792.2(MECP2):c.878_879insT (p.Glu294fs)	MECP2 (E189fs +3 more)	Insertion (frameshift variant)	Rett syndrome	GLikely pathogenic
Select item 3066397	NM_001110792.2(MECP2):c.1183_1210del (p.Leu395fs)	MECP2 (L160fs +3 more)	Deletion (frameshift variant)	Rett syndrome	GPathogenic
Select item 3066396	NM_001110792.2(MECP2):c.1229A>C (p.Asp410Ala)	MECP2 (D175A +3 more)	Single nucleotide variant (missense variant)	Rett syndrome	GUncertain significance
Select item 3066395	NM_001110792.2(MECP2):c.413+11G>C	MECP2	Single nucleotide variant (intron variant)	Rett syndrome	GUncertain significance
Select item 3066394	NM_001110792.2(MECP2):c.542_543dup (p.Gln182fs)	MECP2 (Q170fs +2 more)	Microsatellite (frameshift variant +1 more)	Rett syndrome	GLikely pathogenic
Select item 3066393	NM_001110792.2(MECP2):c.703A>T (p.Lys235Ter)	MECP2 (K130* +2 more)	Single nucleotide variant (nonsense +1 more)	Rett syndrome	GPathogenic
Select item 3066392	NM_001110792.2(MECP2):c.609del (p.Ser206fs)	MECP2 (S101fs +2 more)	Deletion (frameshift variant +1 more)	Rett syndrome	GPathogenic
Select item 3061849	NM_001110792.2(MECP2):c.402_406dup (p.Leu136fs)	MECP2 (L124fs +2 more)	Duplication (frameshift variant +1 more)	Rett syndrome	GLikely pathogenic
Select item 3024298	NM_001110792.2(MECP2):c.450G>C (p.Leu150Phe)	MECP2 (L138F +2 more)	Single nucleotide variant (missense variant +1 more)	Severe neonatal-onset encephalopathy with microcephaly +4 more	GPathogenic
Select item 2811757	NM_001110792.2(MECP2):c.308G>C (p.Arg103Pro)	MECP2 (R91P +1 more)	Single nucleotide variant (missense variant +1 more)	Severe neonatal-onset encephalopathy with microcephaly	GUncertain significance
Select item 2687740	NM_001110792.2(MECP2):c.647C>A (p.Ser216Ter)	MECP2 (S111* +2 more)	Single nucleotide variant (nonsense +1 more)	Rett syndrome	GPathogenic
Select item 2687739	NM_001110792.2(MECP2):c.950A>C (p.Lys317Thr)	MECP2 (K212T +3 more)	Single nucleotide variant (missense variant)	Rett syndrome	GLikely pathogenic
Select item 2687738	NM_001110792.2(MECP2):c.413A>T (p.Asn138Ile)	MECP2 (N126I +2 more)	Single nucleotide variant (missense variant +1 more)	Rett syndrome	GLikely pathogenic
Select item 2687737	NM_001110792.2(MECP2):c.788C>G (p.Pro263Arg)	MECP2 (P158R +3 more)	Single nucleotide variant (missense variant)	Rett syndrome	GUncertain significance
Select item 2687736	NM_001110792.2(MECP2):c.1184_1229del (p.Leu395fs)	MECP2 (L160fs +3 more)	Deletion (frameshift variant)	Rett syndrome	GPathogenic
Select item 2664315	NM_001110792.2(MECP2):c.1197_1235delinsTGAG (p.Pro400fs)	MECP2 (P165fs +3 more)	Indel (frameshift variant)	Rett syndrome	GPathogenic
Select item 2627990	NM_001110792.2(MECP2):c.414-65C>G	MECP2	Single nucleotide variant (intron variant)	Rett syndrome	GBenign
Select item 2627989	NM_001110792.2(MECP2):c.*156G>T	MECP2	Single nucleotide variant (3 prime UTR variant)	Rett syndrome	GBenign
Select item 2627988	NM_001110792.2(MECP2):c.715C>T (p.Gln239Ter)	MECP2 (Q134* +3 more)	Single nucleotide variant (nonsense)	Rett syndrome	GLikely pathogenic
Select item 2626875	NM_001110792.2(MECP2):c.1267_1355del (p.Ser423fs)	MECP2 (S188fs +3 more)	Deletion (frameshift variant)	Rett syndrome	GPathogenic
Select item 2626786	NM_001110792.2(MECP2):c.1485G>A (p.Glu495=)	MECP2	Single nucleotide variant (synonymous variant)	Rett syndrome	GUncertain significance
Select item 2626785	NM_001110792.2(MECP2):c.1246G>A (p.Glu416Lys)	MECP2 (E404K +3 more)	Single nucleotide variant (missense variant)	Rett syndrome	GUncertain significance
Select item 2626784	NM_001110792.2(MECP2):c.1453G>C (p.Glu485Gln)	MECP2 (E473Q +3 more)	Single nucleotide variant (missense variant)	Rett syndrome	GUncertain significance
Select item 2584881	NM_001110792.2(MECP2):c.1429T>C (p.Ser477Pro)	MECP2 (S242P +3 more)	Single nucleotide variant (missense variant)	Rett syndrome	GUncertain significance
Select item 2584335	NM_001110792.2(MECP2):c.1198_1205del (p.Pro400fs)	MECP2 (P165fs +3 more)	Deletion (frameshift variant)	Rett syndrome	GLikely pathogenic
Select item 2580350	GRCh37/hg19 Xq28(chrX:153283692-153298113)x1	IRAK1, MECP2	Copy number loss	Rett syndrome	GPathogenic
Select item 2577047	NC_000023.10:g.(?_153287263)_(153296026_153296261)del	MECP2	Deletion	Rett syndrome	GPathogenic
Select item 2573335	NM_001110792.2(MECP2):c.793delinsTT (p.Arg265fs)	MECP2 (R160fs +3 more)	Indel (frameshift variant)	Rett syndrome	GLikely pathogenic
Select item 2573002	NM_001110792.2(MECP2):c.1149_1237del (p.His383fs)	MECP2 (H148fs +3 more)	Deletion (frameshift variant)	Rett syndrome	GPathogenic
Select item 2572448	NM_001110792.2(MECP2):c.956_976del (p.Lys319_Ser325del)	MECP2	Deletion (inframe_deletion)	Rett syndrome	GUncertain significance
Select item 2506524	GRCh37/hg19 Xq28(chrX:153295818-153298008)	MECP2	Copy number loss	Rett syndrome	GPathogenic
Select item 2506312	NC_000023.10:g.(?_153287263)_(153298009_153357641)del	MECP2	Deletion	Rett syndrome	GPathogenic
Select item 2502372	NM_001110792.2(MECP2):c.818del (p.Pro273fs)	MECP2 (P168fs +3 more)	Deletion (frameshift variant)	Rett syndrome	GLikely pathogenic
Select item 2500775	NC_000023.11:g.154031853_154031854ins77278664_77280319	MECP2	Insertion	Rett syndrome	GLikely pathogenic
Select item 2499592	NM_001110792.2(MECP2):c.359T>C (p.Leu120Pro)	MECP2 (L108P +2 more)	Single nucleotide variant (missense variant +1 more)	Rett syndrome	GLikely pathogenic
Select item 2499203	NM_001110792.2(MECP2):c.818C>G (p.Pro273Arg)	MECP2 (P168R +3 more)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability Lubs type +5 more	GUncertain significance
Select item 2445701	NM_001110792.2(MECP2):c.386C>G (p.Ala129Gly)	MECP2 (A117G +2 more)	Single nucleotide variant (missense variant +1 more)	Rett syndrome	GLikely pathogenic
Select item 2444242	NM_001110792.2(MECP2):c.1200_1249delinsCTGAGCACCCCCCAAGAAGGAGCACCACCACCATCACCACCACTCAGAGT (p.Pro401_Pro417delinsTer)	MECP2	Indel (nonsense)	Rett syndrome	GLikely pathogenic
Select item 2444116	NM_001110792.2(MECP2):c.1402G>T (p.Gly468Ter)	MECP2 (G233* +3 more)	Single nucleotide variant (nonsense)	Rett syndrome	GLikely pathogenic
Select item 2442351	NM_001110792.2(MECP2):c.932_936delinsGCCCGAGAG (p.Thr311fs)	MECP2 (T206fs +3 more)	Indel (frameshift variant)	Rett syndrome	GPathogenic
Select item 1878555	NM_001375505.1(MAP2):c.4281A>C (p.Lys1427Asn)	MAP2 (K1269N +10 more)	Single nucleotide variant (missense variant +1 more)	Rett syndrome	GUncertain significance
Select item 1878531	NM_001110792.2(MECP2):c.1205C>T (p.Pro402Leu)	MECP2 (P167L +3 more)	Single nucleotide variant (missense variant)	Rett syndrome	GUncertain significance
Select item 1723888	NM_001110792.2(MECP2):c.1195_1231delinsAG (p.Pro399fs)	MECP2 (P164fs +3 more)	Indel (frameshift variant)	Rett syndrome	GPathogenic
Select item 1723887	NM_001110792.2(MECP2):c.1222_1231del (p.Ser408fs)	MECP2 (S173fs +3 more)	Deletion (frameshift variant)	Rett syndrome	GPathogenic
Select item 1723886	NM_001110792.2(MECP2):c.268dup (p.Ser90fs)	MECP2 (S78fs +1 more)	Duplication (frameshift variant +1 more)	Rett syndrome	GPathogenic
Select item 1709384	NM_001110792.2(MECP2):c.1143_1234del (p.His382fs)	MECP2 (H147fs +3 more)	Deletion (frameshift variant)	Rett syndrome	GPathogenic
Select item 1703559	GRCh37/hg19 Xq28(chrX:153296089-153296700)	MECP2	Copy number loss	Rett syndrome	GPathogenic
Select item 1691859	NM_001110792.2(MECP2):c.808_1334del (p.Glu270fs)	MECP2 (E165fs +3 more)	Deletion (frameshift variant)	Rett syndrome	GPathogenic
Select item 1684877	NM_001110792.2(MECP2):c.997A>G (p.Lys333Glu)	MECP2 (K228E +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1684655	NM_001110792.2(MECP2):c.337_1247del911 (p.Pro113fs)	MECP2 (M1fs +3 more)	Deletion (frameshift variant +3 more)	Autism, susceptibility to, X-linked 3 +4 more	GPathogenic
Select item 1683308	NM_001110792.2(MECP2):c.254_260del (p.Ala85fs)	MECP2 (A73fs +1 more)	Deletion (frameshift variant +1 more)	Rett syndrome	GLikely pathogenic
Select item 1679397	NM_001110792.2(MECP2):c.1072A>C (p.Ser358Arg)	MECP2 (S123R +3 more)	Single nucleotide variant (missense variant)	Rett syndrome	GLikely 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 1677186	NC_000023.10:g.(153296026_153296261)_(153298009_153357641)del	MECP2	Deletion	Rett syndrome	GPathogenic
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 1339871	NM_001110792.2(MECP2):c.413+5G>A	MECP2	Single nucleotide variant (intron variant)	Severe neonatal-onset encephalopathy with microcephaly	GUncertain significance
Select item 1338970	NM_005249.5(FOXG1):c.512dup (p.Glu173fs)	FOXG1 (E173fs)	Duplication (frameshift variant)	Rett syndrome	GPathogenic
Select item 1325581	NM_001110792.2(MECP2):c.1138C>T (p.His380Tyr)	MECP2 (H145Y +3 more)	Single nucleotide variant (missense variant)	Rett syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1308657	NM_001110792.2(MECP2):c.1209_*6del (p.Glu404fs)	MECP2 (E169fs +3 more)	Deletion (frameshift variant)	Rett syndrome	GPathogenic
Select item 1301354	NM_001110792.2(MECP2):c.1209_1243del (p.Pro403_Glu404insTer)	MECP2	Deletion (frameshift variant)	Rett syndrome +2 more	GPathogenic
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 1170846	NM_001110792.2(MECP2):c.1171C>T (p.Pro391Ser)	MECP2 (P156S +3 more)	Single nucleotide variant (missense variant)	Rett syndrome	GBenign FDA Recognized database
Select item 1098273	NM_001110792.2(MECP2):c.398A>T (p.Asp133Val)	MECP2 (D121V +2 more)	Single nucleotide variant (missense variant +1 more)	Rett syndrome	GLikely pathogenic
Select item 1071768	NM_001110792.2(MECP2):c.74C>G (p.Ser25Ter)	MECP2 (S13* +1 more)	Single nucleotide variant (nonsense +1 more)	Rett syndrome +1 more	GPathogenic
Select item 1029916	NM_001110792.2(MECP2):c.465A>G (p.Glu155=)	MECP2	Single nucleotide variant (synonymous variant +1 more)	Severe neonatal-onset encephalopathy with microcephaly +1 more	GConflicting classifications of pathogenicity
Select item 1029915	NM_001110792.2(MECP2):c.1146C>G (p.His382Gln)	MECP2 (H370Q +3 more)	Single nucleotide variant (missense variant)	Rett syndrome	GUncertain significance
Select item 1027605	NM_001110792.2(MECP2):c.507C>A (p.Phe169Leu)	MECP2 (F157L +2 more)	Single nucleotide variant (missense variant +1 more)	Rett syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1000879	NM_001110792.2(MECP2):c.308G>A (p.Arg103Gln)	MECP2 (R103Q +1 more)	Single nucleotide variant (missense variant +1 more)	Severe neonatal-onset encephalopathy with microcephaly +1 more	GUncertain significance
Select item 997445	NM_001110792.2(MECP2):c.1153_1235del (p.Ser385fs)	MECP2 (S150fs +3 more)	Deletion (frameshift variant)	Rett syndrome	GPathogenic
Select item 997082	GRCh37/hg19 Xq28(chrX:152649825-152988014)	ATP2B3, BCAP31 +10 more	Copy number gain	Rett syndrome	GPathogenic
Select item 981971	NC_000023.10:g.(?_153287263)_(153363189_?)del	MECP2	Deletion	Rett syndrome	GPathogenic
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 976366	NM_001110792.2(MECP2):c.1351_1359dup (p.Ala451_Ala453dup)	MECP2	Duplication (inframe_insertion)	Rett syndrome	GUncertain significance

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