Related gene-specific medical variations for Gene (Select 4204) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3245169	NC_000023.10:g.(?_153296180)_(153302766_?)del	MECP2	Deletion	Severe neonatal-onset encephalopathy with microcephaly	GPathogenic
Select item 3245158	NC_000023.10:g.(?_153296141)_(153303786_?)del	MECP2	Deletion	Severe neonatal-onset encephalopathy with microcephaly	GPathogenic
Select item 3245147	NC_000023.10:g.(?_153296136)_(153302300_?)del	MECP2	Deletion	Severe neonatal-onset encephalopathy with microcephaly	GPathogenic
Select item 3245136	NC_000023.10:g.(?_153296119)_(153305088_?)del	MECP2	Deletion	Severe neonatal-onset encephalopathy with microcephaly	GPathogenic
Select item 3245124	NC_000023.10:g.(?_153296112)_(153302496_?)del	MECP2	Deletion	Severe neonatal-onset encephalopathy with microcephaly	GPathogenic
Select item 3245113	NC_000023.10:g.(?_153296109)_(153302497_?)del	MECP2	Deletion	Severe neonatal-onset encephalopathy with microcephaly	GPathogenic
Select item 3245102	NC_000023.10:g.(?_153296084)_(153300925_?)del	MECP2	Deletion	Severe neonatal-onset encephalopathy with microcephaly	GPathogenic
Select item 3245092	NC_000023.10:g.(?_153296038)_(153299936_?)del	MECP2	Deletion	Severe neonatal-onset encephalopathy with microcephaly	GPathogenic
Select item 3245081	NC_000023.10:g.(?_153295985)_(153299903_?)del	MECP2	Deletion	Severe neonatal-onset encephalopathy with microcephaly	GPathogenic
Select item 3245070	NC_000023.10:g.(?_153296083)_(153297178_?)del	MECP2	Deletion	Severe neonatal-onset encephalopathy with microcephaly	GPathogenic
Select item 3245059	NC_000023.10:g.(?_153295424)_(153296139_?)del	MECP2	Deletion	Severe neonatal-onset encephalopathy with microcephaly	GPathogenic
Select item 3245048	NC_000023.10:g.(?_153294955)_(153296040_?)del	MECP2	Deletion	Severe neonatal-onset encephalopathy with microcephaly	GPathogenic
Select item 3245026	NC_000023.10:g.(?_153357632)_(153363122_?)del	MECP2	Deletion	Severe neonatal-onset encephalopathy with microcephaly	GPathogenic
Select item 3237211	NM_001110792.2(MECP2):c.389G>A (p.Gly130Glu)	MECP2 (G118E +2 more)	Single nucleotide variant (missense variant +1 more)	Generalized hypotonia +2 more	GPathogenic
Select item 3064121	NM_001110792.2(MECP2):c.464A>G (p.Glu155Gly)	MECP2 (E143G +2 more)	Single nucleotide variant (missense variant +1 more)	Severe neonatal-onset encephalopathy with microcephaly	GUncertain significance
Select item 3062479	GRCh37/hg19 Xq28(chrX:153297497-153317825)	MECP2	Copy number loss	not specified	GPathogenic
Select item 2858590	NM_001110792.2(MECP2):c.-2_15del (p.Met1fs)	LOC130068854, MECP2 (M1fs)	Deletion (frameshift variant +2 more)	Severe neonatal-onset encephalopathy with microcephaly	GPathogenic
Select item 2689411	NM_001110792.2(MECP2):c.1315G>T (p.Asp439Tyr)	MECP2 (D204Y +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689410	NM_001110792.2(MECP2):c.818C>T (p.Pro273Leu)	MECP2 (P168L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2506524	GRCh37/hg19 Xq28(chrX:153295818-153298008)	MECP2	Copy number loss	Rett syndrome	GPathogenic
Select item 2441368	NM_001110792.2(MECP2):c.849_850del (p.Lys283fs)	MECP2 (K178fs +3 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2437300	NM_001110792.2(MECP2):c.459C>A (p.Tyr153Ter)	MECP2 (Y141* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2433689	NM_001110792.2(MECP2):c.599G>A (p.Arg200Gln)	MECP2 (R188Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2433688	NM_001110792.2(MECP2):c.1199_1203delinsTC (p.Pro400_Pro401delinsLeu)	MECP2	Indel (inframe_indel)	not provided	GUncertain significance
Select item 2433687	NM_001110792.2(MECP2):c.1450GAG[3] (p.Glu485_Pro486insGlu)	MECP2	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 2433686	NM_001110792.2(MECP2):c.63-3C>G	MECP2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2430069	NM_001110792.2(MECP2):c.60A>C (p.Arg20Ser)	MECP2 (R20S)	Single nucleotide variant (missense variant +1 more)	Developmental disorder	GUncertain significance
Select item 2429873	NM_001110792.2(MECP2):c.881A>G (p.Glu294Gly)	MECP2 (E189G +3 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GLikely pathogenic
Select item 2429872	NM_001110792.2(MECP2):c.556A>C (p.Lys186Gln)	MECP2 (K174Q +2 more)	Single nucleotide variant (missense variant +1 more)	Autism spectrum disorder	GUncertain significance
Select item 2052812	NM_001110792.2(MECP2):c.15C>T (p.Ala5=)	LOC130068854, MECP2	Single nucleotide variant (synonymous variant +1 more)	Severe neonatal-onset encephalopathy with microcephaly	GLikely benign
Select item 2035383	NM_001110792.2(MECP2):c.6C>T (p.Ala2=)	LOC130068854, MECP2	Single nucleotide variant (synonymous variant +1 more)	Severe neonatal-onset encephalopathy with microcephaly	GUncertain significance
Select item 1992323	NM_001110792.2(MECP2):c.515C>A (p.Thr172Asn)	MECP2 (T172N +2 more)	Single nucleotide variant (missense variant +1 more)	X-linked intellectual disability-psychosis-macroorchidism syndrome	GUncertain significance
Select item 1809585	NM_001110792.2(MECP2):c.814_829del (p.Asp272fs)	MECP2 (D167fs +3 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1768926	NM_001110792.2(MECP2):c.9C>T (p.Ala3=)	LOC130068854, MECP2	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1703559	GRCh37/hg19 Xq28(chrX:153296089-153296700)	MECP2	Copy number loss	Rett syndrome	GPathogenic
Select item 1700192	NM_001110792.2(MECP2):c.1193_1242del (p.Leu398fs)	MECP2 (L163fs +3 more)	Deletion (frameshift variant)	Neurodevelopmental delay	GLikely pathogenic
Select item 1700184	NM_001110792.2(MECP2):c.1097_1098del (p.Arg366fs)	MECP2 (R131fs +3 more)	Microsatellite (frameshift variant)	Neurodevelopmental delay	GLikely pathogenic
Select item 1700167	NM_001110792.2(MECP2):c.1195_1202del (p.Pro399fs)	MECP2 (P164fs +3 more)	Deletion (frameshift variant)	Neurodevelopmental delay	GPathogenic
Select item 1424677	NM_001110792.2(MECP2):c.11C>T (p.Ala4Val)	LOC130068854, MECP2 (A4V)	Single nucleotide variant (missense variant +1 more)	Severe neonatal-onset encephalopathy with microcephaly	GUncertain significance
Select item 1324711	NM_001110792.2(MECP2):c.337C>A (p.Pro113Thr)	MECP2 (P101T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 1216883	NM_001110792.2(MECP2):c.-28G>A	LOC130068854, MECP2	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1209431	NM_001110792.2(MECP2):c.-23C>T	LOC130068854, MECP2	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1207096	NM_001110792.2(MECP2):c.3G>A (p.Met1Ile)	LOC130068854, MECP2 (M1I)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GPathogenic
Select item 1204986	NM_001110792.2(MECP2):c.18C>T (p.Ala6=)	LOC130068854, MECP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1172795	NM_001110792.2(MECP2):c.1046_1072del (p.Lys349_Lys357del)	MECP2	Deletion (inframe_deletion)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1172793	NM_001110792.2(MECP2):c.1152_1282del (p.His384fs)	MECP2 (H149fs +3 more)	Deletion (frameshift variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1069856	NC_000023.10:g.(?_153296154)_153302832del	MECP2	Deletion	Severe neonatal-onset encephalopathy with microcephaly	GPathogenic
Select item 997823	NM_001110792.2(MECP2):c.63-5800_1271del	MECP2	Deletion (splice acceptor variant +2 more)	Epilepsy +1 more	GLikely pathogenic
Select item 995700	NM_001110792.2(MECP2):c.399T>G (p.Asp133Glu)	MECP2 (D121E +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 987496	NM_001110792.2(MECP2):c.52_59del (p.Glu18fs)	MECP2 (E18fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 987494	NM_001110792.2(MECP2):c.1080_1125del (p.Ser361fs)	MECP2 (S126fs +3 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 987312	NM_001110792.2(MECP2):c.62+1G>C	MECP2	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 987131	NM_001110792.2(MECP2):c.1134_1237del (p.His378fs)	MECP2 (H143fs +3 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 987123	NM_001110792.2(MECP2):c.1176dup (p.Pro393fs)	MECP2 (P158fs +3 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 987009	NM_001110792.2(MECP2):c.245_246insA (p.Ala83fs)	MECP2 (A71fs +1 more)	Insertion (frameshift variant +1 more)	not provided	GPathogenic
Select item 986950	NM_001110792.2(MECP2):c.1490_*12del (p.Val497fs)	MECP2 (V262fs +3 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 979165	NM_001110792.2(MECP2):c.1076_1102del (p.Lys359_Ser367del)	MECP2	Deletion (inframe_deletion)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 979164	NM_001110792.2(MECP2):c.1124_1142del (p.Lys375fs)	MECP2 (K140fs +3 more)	Deletion (frameshift variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 974859	NM_001110792.2(MECP2):c.177_180dup (p.Ser61fs)	MECP2 (S49fs +1 more)	Duplication (frameshift variant +1 more)	Rett syndrome	GLikely pathogenic
Select item 974619	NM_001110792.2(MECP2):c.1168_1169del (p.Ala390fs)	MECP2 (A285fs +2 more)	Deletion (frameshift variant)	Rett syndrome	GPathogenic
Select item 974567	NM_001110792.2(MECP2):c.2T>C (p.Met1Thr)	LOC130068854, MECP2 (M1T)	Single nucleotide variant (5 prime UTR variant +2 more)	Rett syndrome	GConflicting classifications of pathogenicity
Select item 969689	NM_001110792.2(MECP2):c.23C>A (p.Ala8Glu)	LOC130068854, MECP2 (A8E)	Single nucleotide variant (5 prime UTR variant +1 more)	Severe neonatal-onset encephalopathy with microcephaly	GUncertain significance
Select item 931417	NM_001110792.2(MECP2):c.1198_1206delinsACCAGCCCCC (p.Pro400fs)	MECP2 (P388fs +2 more)	Indel (frameshift variant)	Autism, susceptibility to, X-linked 3	GLikely pathogenic
Select item 686670	GRCh37/hg19 Xq28(chrX:153303159-153383470)x3	MECP2	Copy number gain	not provided	GUncertain significance
Select item 685871	GRCh37/hg19 Xq28(chrX:153347338-153408903)x2	MECP2	Copy number gain	not provided	GUncertain significance
Select item 664477	NM_001110792.2(MECP2):c.23del (p.Ala8fs)	LOC130068854, MECP2 (A8fs)	Deletion (frameshift variant +1 more)	Severe neonatal-onset encephalopathy with microcephaly	GPathogenic
Select item 646738	NM_001110792.2(MECP2):c.10G>A (p.Ala4Thr)	LOC130068854, MECP2 (A4T)	Single nucleotide variant (missense variant +1 more)	Severe neonatal-onset encephalopathy with microcephaly	GUncertain significance
Select item 637994	NM_001110792.2(MECP2):c.988dup (p.Glu330fs)	MECP2 (E318fs +3 more)	Duplication (frameshift variant)	Rett syndrome	GPathogenic
Select item 588643	NM_001110792.2(MECP2):c.6CGC[5] (p.Ala8del)	LOC130068854, MECP2 (A8del)	Microsatellite (inframe_deletion +1 more)	MECP2-related disorder +7 more	GBenign/Likely benign
Select item 560201	NM_001110792.2(MECP2):c.1023_1024del (p.Lys343fs)	MECP2 (K331fs +3 more)	Deletion (frameshift variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 511263	NM_001110792.2(MECP2):c.-14A>C	LOC130068854, MECP2	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 506965	NM_001110792.2(MECP2):c.-35T>G	LOC130068854, MECP2	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 496280	NM_001110792.2(MECP2):c.13G>A (p.Ala5Thr)	LOC130068854, MECP2 (A5T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 450096	NM_001110792.2(MECP2):c.-29A>T	LOC130068854, MECP2	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 424884	NM_001110792.2(MECP2):c.786_810dup (p.Ala271delinsProArgGlnGluAlaLysSerTer)	MECP2	Duplication (nonsense)	Rett syndrome	GPathogenic
Select item 391465	NM_001110792.2(MECP2):c.-43C>G	LOC130068854, MECP2	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 374719	NM_001110792.2(MECP2):c.1282G>T (p.Glu428Ter)	MECP2 (E416* +3 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 259602	NM_001110792.2(MECP2):c.90C>A (p.Leu30=)	MECP2	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 242862	Single allele	MECP2	Duplication	Syndromic X-linked intellectual disability Lubs type	GPathogenic
Select item 242861	Single allele	MECP2	Duplication	Syndromic X-linked intellectual disability Lubs type	GPathogenic
Select item 211468	NM_001110792.1:c.384_1164del	MECP2	Deletion	Rett syndrome	GPathogenic
Select item 193163	NM_001110792.2(MECP2):c.6CGC[3] (p.Ala6_Ala8del)	LOC130068854, MECP2	Microsatellite (inframe_deletion +1 more)	Rett syndrome	GBenign FDA Recognized database
Select item 189769	NM_001110792.1(MECP2):c.-46_-45delGC	LOC130068854, MECP2	Microsatellite (genic upstream transcript variant)	Rett syndrome	GUncertain significance
Select item 189766	NM_001110792.2(MECP2):c.-27_-26delinsTT	LOC130068854, MECP2	Indel (5 prime UTR variant)	Rett syndrome	GUncertain significance
Select item 189764	NM_001110792.2(MECP2):c.1A>G (p.Met1Val)	LOC130068854, MECP2 (M1V)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 189758	NM_004992.3:c.(?_-226)_(*1_?)dup	MECP2	Duplication	X-linked intellectual disability-psychosis-macroorchidism syndrome	GUncertain significance
Select item 189739	NM_004992.3(MECP2):c.-98-?_377+?del	MECP2	Deletion	Rett syndrome	GPathogenic
Select item 189702	NM_004992.3:c.343_1182del	MECP2	Deletion	Rett syndrome	GPathogenic
Select item 189692	NM_004992.3:c.(?_27)_(378_?)del	MECP2	Deletion	Rett syndrome	GPathogenic
Select item 189690	NM_004992.3:c.(?_27)_(1397_?)del	MECP2	Deletion	Rett syndrome	GPathogenic
Select item 189689	NM_004992.3:c.(?_27)_(1337_?)del	MECP2	Deletion	Rett syndrome	GPathogenic
Select item 189688	NM_004992.3:c.(?_27)_(1185_?)del	MECP2	Deletion	Rett syndrome	GPathogenic
Select item 189687	NM_004992.3:c.(?_27)_(1170_?)del	MECP2	Deletion	Rett syndrome	GPathogenic
Select item 189686	NM_004992.3:c.(?_27)_(1029_?)del	MECP2	Deletion	Rett syndrome	GPathogenic
Select item 189685	NM_004992.3:c.(?_27)_(1021_?)del	MECP2	Deletion	Rett syndrome	GPathogenic
Select item 189684	NM_004992.3:c.(?_27)_(1018_?)del	MECP2	Deletion	Rett syndrome	GPathogenic
Select item 189683	NM_004992.3:c.(?_27)_(*8554_?)del	MECP2	Deletion	Rett syndrome	GPathogenic
Select item 189682	NM_004992.3:c.(?_27)_(*1_?)del	MECP2	Deletion	Rett syndrome	GPathogenic

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