ClinVar for Gene (Select 4204) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3069039	NM_001110792.2(MECP2):c.192C>T (p.His64=)	MECP2	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3067607	NM_001110792.2(MECP2):c.1403G>T (p.Gly468Val)	MECP2 (G233V +3 more)	Single nucleotide variant (missense variant)	not provided	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	GLikely 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 3066030	NC_000023.11:g.153670446_154329698dup	ABCD1, ARHGAP4 +59 more	Duplication	Chromosome Xq28 duplication syndrome	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 3062554	GRCh37/hg19 Xq28(chrX:153200064-153624564)	EMD, FLNA +11 more	Copy number gain	not specified	GPathogenic
Select item 3062541	GRCh37/hg19 Xq28(chrX:153349950-153418991)	MECP2, OPN1LW	Copy number gain	not specified	GUncertain significance
Select item 3062535	GRCh37/hg19 Xq28(chrX:153180240-153421839)	ARHGAP4, HCFC1 +6 more	Copy number gain	not specified	GPathogenic
Select item 3062491	GRCh37/hg19 Xq24-28(chrX:119395676-154930047)	TAFAZZIN, TENM1 +241 more	Copy number loss	not specified	GPathogenic
Select item 3062479	GRCh37/hg19 Xq28(chrX:153297497-153317825)	MECP2	Copy number loss	not specified	GPathogenic
Select item 3062477	GRCh37/hg19 Xq28(chrX:153261202-153421839)	IRAK1, MECP2 +1 more	Copy number gain	not specified	GPathogenic
Select item 3062473	GRCh37/hg19 Xq22.2-28(chrX:103405294-155233731)	ABCD1, ACSL4 +321 more	Copy number loss	not specified	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 3059490	NM_001110792.2(MECP2):c.*804C>G	MECP2	Single nucleotide variant (3 prime UTR variant)	MECP2-related condition	GLikely benign
Select item 3059398	NM_001110792.2(MECP2):c.*806G>C	MECP2	Single nucleotide variant (3 prime UTR variant)	MECP2-related condition	GLikely benign
Select item 3051750	NM_001110792.2(MECP2):c.*787G>A	MECP2	Single nucleotide variant (3 prime UTR variant)	MECP2-related condition	GLikely benign
Select item 3051055	NM_001110792.2(MECP2):c.*10G>A	MECP2	Single nucleotide variant (3 prime UTR variant)	MECP2-related condition	GLikely benign
Select item 3049484	NM_001110792.2(MECP2):c.1149C>T (p.His383=)	MECP2	Single nucleotide variant (synonymous variant)	MECP2-related condition	GLikely benign
Select item 3031293	NM_001110792.2(MECP2):c.*795G>C	MECP2	Single nucleotide variant (3 prime UTR variant)	MECP2-related condition	GLikely benign
Select item 3030433	NM_001110792.2(MECP2):c.*810G>T	MECP2	Single nucleotide variant (3 prime UTR variant)	MECP2-related condition	GBenign
Select item 3029777	NM_001110792.2(MECP2):c.*811G>C	MECP2	Single nucleotide variant (3 prime UTR variant)	MECP2-related condition	GLikely benign
Select item 3029571	NM_001110792.2(MECP2):c.*794G>C	MECP2	Single nucleotide variant (3 prime UTR variant)	MECP2-related condition	GLikely benign
Select item 3028968	NM_001110792.2(MECP2):c.*820G>T	MECP2	Single nucleotide variant (3 prime UTR variant)	MECP2-related condition	GLikely benign
Select item 3027059	NM_001110792.2(MECP2):c.1041_1168del (p.Leu348fs)	MECP2 (L113fs +3 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 3024654	GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	ALG13, AMMECR1 +488 more	Copy number gain	not provided	GPathogenic
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 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 3022202	NM_001110792.2(MECP2):c.414-7C>T	MECP2	Single nucleotide variant (intron variant)	Severe neonatal-onset encephalopathy with microcephaly	GLikely benign
Select item 3016198	NM_001110792.2(MECP2):c.717A>C (p.Gln239His)	MECP2 (Q134H +3 more)	Single nucleotide variant (missense variant)	Severe neonatal-onset encephalopathy with microcephaly	GLikely benign
Select item 3014848	NM_001110792.2(MECP2):c.812C>G (p.Ala271Gly)	MECP2 (A271G +3 more)	Single nucleotide variant (missense variant)	Severe neonatal-onset encephalopathy with microcephaly	GLikely benign
Select item 3012127	NM_001110792.2(MECP2):c.806C>T (p.Ala269Val)	MECP2 (A257V +3 more)	Single nucleotide variant (missense variant)	Severe neonatal-onset encephalopathy with microcephaly	GUncertain significance
Select item 3009556	NM_001110792.2(MECP2):c.112C>T (p.Leu38Phe)	MECP2 (L26F +1 more)	Single nucleotide variant (missense variant +1 more)	Severe neonatal-onset encephalopathy with microcephaly	GUncertain significance
Select item 3005690	NM_001110792.2(MECP2):c.1197C>G (p.Pro399=)	MECP2	Single nucleotide variant (synonymous variant)	Severe neonatal-onset encephalopathy with microcephaly	GLikely benign
Select item 3004587	NM_001110792.2(MECP2):c.94G>A (p.Gly32Ser)	MECP2 (G20S +1 more)	Single nucleotide variant (missense variant +1 more)	Severe neonatal-onset encephalopathy with microcephaly	GLikely benign
Select item 2997172	NM_001110792.2(MECP2):c.414-5C>G	MECP2	Single nucleotide variant (intron variant)	Severe neonatal-onset encephalopathy with microcephaly	GLikely benign
Select item 2991636	NM_001110792.2(MECP2):c.1088C>T (p.Pro363Leu)	MECP2 (P351L +3 more)	Single nucleotide variant (missense variant)	Severe neonatal-onset encephalopathy with microcephaly	GUncertain significance
Select item 2988081	NM_001110792.2(MECP2):c.1197_1208del (p.Pro400_Pro403del)	MECP2	Deletion (inframe_deletion)	Severe neonatal-onset encephalopathy with microcephaly	GLikely benign
Select item 2987765	NM_001110792.2(MECP2):c.939C>G (p.Leu313=)	MECP2	Single nucleotide variant (synonymous variant)	Severe neonatal-onset encephalopathy with microcephaly	GBenign
Select item 2983357	NM_001110792.2(MECP2):c.789C>A (p.Pro263=)	MECP2	Single nucleotide variant (synonymous variant)	Severe neonatal-onset encephalopathy with microcephaly	GLikely benign
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 2976510	NM_001110792.2(MECP2):c.1152C>T (p.His384=)	MECP2	Single nucleotide variant (synonymous variant)	Severe neonatal-onset encephalopathy with microcephaly	GLikely benign
Select item 2971737	NM_001110792.2(MECP2):c.231A>G (p.Ser77=)	MECP2	Single nucleotide variant (synonymous variant +1 more)	Severe neonatal-onset encephalopathy with microcephaly	GLikely benign
Select item 2970830	NM_001110792.2(MECP2):c.1145A>G (p.His382Arg)	MECP2 (H147R +3 more)	Single nucleotide variant (missense variant)	Severe neonatal-onset encephalopathy with microcephaly	GLikely benign
Select item 2969876	NM_001110792.2(MECP2):c.1065G>A (p.Gly355=)	MECP2	Single nucleotide variant (synonymous variant)	Severe neonatal-onset encephalopathy with microcephaly	GLikely benign
Select item 2967003	NM_001110792.2(MECP2):c.673C>T (p.Leu225=)	MECP2	Single nucleotide variant (synonymous variant +1 more)	Severe neonatal-onset encephalopathy with microcephaly	GLikely benign
Select item 2963372	NM_001110792.2(MECP2):c.1239C>G (p.Ser413Arg)	MECP2 (S178R +3 more)	Single nucleotide variant (missense variant)	Severe neonatal-onset encephalopathy with microcephaly	GUncertain significance
Select item 2961608	NM_001110792.2(MECP2):c.717A>G (p.Gln239=)	MECP2	Single nucleotide variant (synonymous variant)	Severe neonatal-onset encephalopathy with microcephaly	GLikely benign
Select item 2961185	NM_001110792.2(MECP2):c.896C>T (p.Ala299Val)	MECP2 (A299V +3 more)	Single nucleotide variant (missense variant)	Severe neonatal-onset encephalopathy with microcephaly	GLikely benign
Select item 2959703	NM_001110792.2(MECP2):c.765C>G (p.Thr255=)	MECP2	Single nucleotide variant (synonymous variant)	Severe neonatal-onset encephalopathy with microcephaly	GLikely benign
Select item 2958796	NM_001110792.2(MECP2):c.839G>A (p.Arg280Gln)	MECP2 (R175Q +3 more)	Single nucleotide variant (missense variant)	Severe neonatal-onset encephalopathy with microcephaly	GUncertain significance
Select item 2958357	NM_001110792.2(MECP2):c.435C>G (p.Arg145=)	MECP2	Single nucleotide variant (synonymous variant +1 more)	Severe neonatal-onset encephalopathy with microcephaly	GLikely benign
Select item 2954674	NM_001110792.2(MECP2):c.75A>T (p.Ser25=)	MECP2	Single nucleotide variant (synonymous variant +1 more)	Severe neonatal-onset encephalopathy with microcephaly	GLikely benign
Select item 2920065	NM_001110792.2(MECP2):c.62+5429C>G	MECP2	Single nucleotide variant (intron variant)	Severe neonatal-onset encephalopathy with microcephaly	GLikely benign
Select item 2916362	NM_001110792.2(MECP2):c.801A>C (p.Arg267=)	MECP2	Single nucleotide variant (synonymous variant)	Severe neonatal-onset encephalopathy with microcephaly	GLikely benign
Select item 2913226	NM_001110792.2(MECP2):c.414-4A>G	MECP2	Single nucleotide variant (intron variant)	Severe neonatal-onset encephalopathy with microcephaly	GLikely benign
Select item 2907675	NM_001110792.2(MECP2):c.633C>T (p.Pro211=)	MECP2	Single nucleotide variant (synonymous variant +1 more)	Severe neonatal-onset encephalopathy with microcephaly	GLikely benign
Select item 2905024	NM_001110792.2(MECP2):c.1044G>A (p.Leu348=)	MECP2	Single nucleotide variant (synonymous variant)	Severe neonatal-onset encephalopathy with microcephaly	GLikely benign
Select item 2904420	NM_001110792.2(MECP2):c.1194G>A (p.Leu398=)	MECP2	Single nucleotide variant (synonymous variant)	Severe neonatal-onset encephalopathy with microcephaly	GBenign
Select item 2903908	NM_001110792.2(MECP2):c.63-17C>G	MECP2	Single nucleotide variant (intron 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 2901450	NM_001110792.2(MECP2):c.534C>T (p.Ser178=)	MECP2	Single nucleotide variant (synonymous variant +1 more)	Severe neonatal-onset encephalopathy with microcephaly	GLikely benign
Select item 2898418	NM_001110792.2(MECP2):c.648A>C (p.Ser216=)	MECP2	Single nucleotide variant (synonymous variant +1 more)	Severe neonatal-onset encephalopathy with microcephaly	GLikely benign
Select item 2898417	NM_001110792.2(MECP2):c.777G>C (p.Val259=)	MECP2	Single nucleotide variant (synonymous variant)	Severe neonatal-onset encephalopathy with microcephaly	GLikely benign
Select item 2896545	NM_001110792.2(MECP2):c.619G>A (p.Gly207Ser)	MECP2 (G195S +2 more)	Single nucleotide variant (missense variant +1 more)	Severe neonatal-onset encephalopathy with microcephaly	GBenign
Select item 2895284	NM_001110792.2(MECP2):c.1190C>G (p.Pro397Arg)	MECP2 (P292R +3 more)	Single nucleotide variant (missense variant)	Severe neonatal-onset encephalopathy with microcephaly	GUncertain significance
Select item 2892557	NM_001110792.2(MECP2):c.729G>A (p.Gly243=)	MECP2	Single nucleotide variant (synonymous variant)	Severe neonatal-onset encephalopathy with microcephaly	GLikely benign
Select item 2889980	NM_001110792.2(MECP2):c.1200A>G (p.Pro400=)	MECP2	Single nucleotide variant (synonymous variant)	Severe neonatal-onset encephalopathy with microcephaly	GLikely benign
Select item 2882596	NM_001110792.2(MECP2):c.429C>T (p.Ala143=)	MECP2	Single nucleotide variant (synonymous variant +1 more)	MECP2-related condition +1 more	GLikely benign
Select item 2881352	NM_001110792.2(MECP2):c.1191C>A (p.Pro397=)	MECP2	Single nucleotide variant (synonymous variant)	Severe neonatal-onset encephalopathy with microcephaly	GLikely benign
Select item 2880295	NM_001110792.2(MECP2):c.1122C>T (p.Pro374=)	MECP2	Single nucleotide variant (synonymous variant)	Severe neonatal-onset encephalopathy with microcephaly	GLikely benign

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