ClinVar for MedGen (Select 1849909) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3356623	NM_001110792.2(MECP2):c.1443A>G (p.Pro481=)	MECP2	Single nucleotide variant (synonymous variant)	MECP2-related disorder	GLikely benign
Select item 3355857	NM_001110792.2(MECP2):c.*815G>T	MECP2	Single nucleotide variant (3 prime UTR variant)	MECP2-related disorder	GLikely benign
Select item 3355709	NM_001110792.2(MECP2):c.580C>G (p.Pro194Ala)	MECP2 (P182A +2 more)	Single nucleotide variant (missense variant +1 more)	MECP2-related disorder	GUncertain significance
Select item 3355642	NM_001110792.2(MECP2):c.54G>A (p.Glu18=)	MECP2	Single nucleotide variant (synonymous variant +1 more)	MECP2-related disorder	GLikely benign
Select item 3354714	NM_001110792.2(MECP2):c.1200_1202del (p.Pro403del)	MECP2 (P168del +3 more)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 3354659	NM_001110792.2(MECP2):c.1053T>C (p.Cys351=)	MECP2	Single nucleotide variant (synonymous variant)	MECP2-related disorder	GLikely benign
Select item 3354135	NM_001110792.2(MECP2):c.*18T>C	MECP2	Single nucleotide variant (3 prime UTR variant)	MECP2-related disorder	GLikely benign
Select item 3353789	NM_001110792.2(MECP2):c.252G>T (p.Pro84=)	MECP2	Single nucleotide variant (synonymous variant +1 more)	MECP2-related disorder	GLikely benign
Select item 3353416	NM_001110792.2(MECP2):c.264A>G (p.Glu88=)	MECP2	Single nucleotide variant (synonymous variant +1 more)	MECP2-related disorder	GLikely benign
Select item 3353297	NM_001110792.2(MECP2):c.1306C>T (p.Leu436=)	MECP2	Single nucleotide variant (synonymous variant)	MECP2-related disorder	GLikely benign
Select item 3351185	NM_001110792.2(MECP2):c.762C>A (p.Ser254=)	MECP2	Single nucleotide variant (synonymous variant)	MECP2-related disorder	GLikely benign
Select item 3350637	NM_001110792.2(MECP2):c.591C>T (p.Gly197=)	MECP2	Single nucleotide variant (synonymous variant +1 more)	MECP2-related disorder	GLikely benign
Select item 3349139	NM_001110792.2(MECP2):c.1194_1203delinsC (p.Pro401_Pro403del)	MECP2	Indel (inframe_deletion)	MECP2-related disorder	GUncertain significance
Select item 3348777	NM_001110792.2(MECP2):c.62+5426T>G	MECP2	Single nucleotide variant (intron variant)	MECP2-related disorder	GLikely benign
Select item 3348768	NM_001110792.2(MECP2):c.298A>T (p.Ile100Phe)	MECP2 (I100F +1 more)	Single nucleotide variant (missense variant +1 more)	MECP2-related disorder	GUncertain significance
Select item 3348683	NM_001110792.2(MECP2):c.*826G>C	MECP2	Single nucleotide variant (3 prime UTR variant)	MECP2-related disorder	GLikely benign
Select item 3347533	NM_001110792.2(MECP2):c.1121C>A (p.Pro374His)	MECP2 (P139H +3 more)	Single nucleotide variant (missense variant)	MECP2-related disorder	GUncertain significance
Select item 3347469	NM_001110792.2(MECP2):c.172G>T (p.Val58Leu)	MECP2 (V46L +1 more)	Single nucleotide variant (missense variant +1 more)	MECP2-related disorder	GUncertain significance
Select item 3347144	NM_001110792.2(MECP2):c.465A>C (p.Glu155Asp)	MECP2 (E143D +2 more)	Single nucleotide variant (missense variant +1 more)	MECP2-related disorder	GUncertain significance
Select item 3345231	NM_001110792.2(MECP2):c.757A>G (p.Thr253Ala)	MECP2 (T148A +3 more)	Single nucleotide variant (missense variant)	MECP2-related disorder	GUncertain significance
Select item 3345077	NM_001110792.2(MECP2):c.*829C>A	MECP2	Single nucleotide variant (3 prime UTR variant)	MECP2-related disorder	GLikely benign
Select item 3344425	NM_001110792.2(MECP2):c.451A>G (p.Ile151Val)	MECP2 (I139V +2 more)	Single nucleotide variant (missense variant +1 more)	MECP2-related disorder	GUncertain significance
Select item 3059490	NM_001110792.2(MECP2):c.*804C>G	MECP2	Single nucleotide variant (3 prime UTR variant)	MECP2-related disorder	GLikely benign
Select item 3059398	NM_001110792.2(MECP2):c.*806G>C	MECP2	Single nucleotide variant (3 prime UTR variant)	MECP2-related disorder	GLikely benign
Select item 3051750	NM_001110792.2(MECP2):c.*787G>A	MECP2	Single nucleotide variant (3 prime UTR variant)	MECP2-related disorder	GLikely benign
Select item 3051055	NM_001110792.2(MECP2):c.*10G>A	MECP2	Single nucleotide variant (3 prime UTR variant)	MECP2-related disorder	GLikely benign
Select item 3049484	NM_001110792.2(MECP2):c.1149C>T (p.His383=)	MECP2	Single nucleotide variant (synonymous variant)	MECP2-related disorder	GLikely benign
Select item 3031293	NM_001110792.2(MECP2):c.*795G>C	MECP2	Single nucleotide variant (3 prime UTR variant)	MECP2-related disorder	GLikely benign
Select item 3030433	NM_001110792.2(MECP2):c.*810G>T	MECP2	Single nucleotide variant (3 prime UTR variant)	MECP2-related disorder	GBenign
Select item 3029777	NM_001110792.2(MECP2):c.*811G>C	MECP2	Single nucleotide variant (3 prime UTR variant)	MECP2-related disorder	GLikely benign
Select item 3029571	NM_001110792.2(MECP2):c.*794G>C	MECP2	Single nucleotide variant (3 prime UTR variant)	MECP2-related disorder	GLikely benign
Select item 3028968	NM_001110792.2(MECP2):c.*820G>T	MECP2	Single nucleotide variant (3 prime UTR variant)	MECP2-related disorder	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 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 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 2882596	NM_001110792.2(MECP2):c.429C>T (p.Ala143=)	MECP2	Single nucleotide variant (synonymous variant +1 more)	Severe neonatal-onset encephalopathy with microcephaly	GLikely benign
Select item 2829103	NM_001110792.2(MECP2):c.177G>A (p.Gln59=)	MECP2	Single nucleotide variant (synonymous variant +1 more)	Severe neonatal-onset encephalopathy with microcephaly	GLikely benign
Select item 2792293	NM_001110792.2(MECP2):c.1118C>A (p.Pro373His)	MECP2 (P138H +3 more)	Single nucleotide variant (missense variant)	Severe neonatal-onset encephalopathy with microcephaly	GLikely benign
Select item 2777998	NM_001110792.2(MECP2):c.1002C>T (p.Pro334=)	MECP2	Single nucleotide variant (synonymous variant)	Severe neonatal-onset encephalopathy with microcephaly	GBenign
Select item 2770160	NM_001110792.2(MECP2):c.1206A>T (p.Pro402=)	MECP2	Single nucleotide variant (synonymous variant)	Severe neonatal-onset encephalopathy with microcephaly	GLikely benign
Select item 2740035	NM_004992.4(MECP2):c.12G>A (p.Gly4=)	MECP2	Single nucleotide variant (5 prime UTR variant +2 more)	Severe neonatal-onset encephalopathy with microcephaly	GLikely benign
Select item 2718814	NM_001110792.2(MECP2):c.567A>G (p.Lys189=)	MECP2	Single nucleotide variant (synonymous variant +1 more)	Severe neonatal-onset encephalopathy with microcephaly	GLikely benign
Select item 2715574	NM_001110792.2(MECP2):c.621C>A (p.Gly207=)	MECP2	Single nucleotide variant (synonymous variant +1 more)	Severe neonatal-onset encephalopathy with microcephaly	GLikely benign
Select item 2633850	NM_001110792.2(MECP2):c.938del (p.Leu313fs)	MECP2 (L208fs +3 more)	Deletion (frameshift variant)	MECP2-related disorder	GPathogenic
Select item 2632618	NM_001110792.2(MECP2):c.346T>G (p.Trp116Gly)	MECP2 (W104G +2 more)	Single nucleotide variant (missense variant +1 more)	MECP2-related disorder	GUncertain significance
Select item 2631612	NM_001110792.2(MECP2):c.811G>T (p.Ala271Ser)	MECP2 (A166S +3 more)	Single nucleotide variant (missense variant)	MECP2-related disorder	GUncertain significance
Select item 2629724	NM_001110792.2(MECP2):c.1297G>C (p.Gly433Arg)	MECP2 (G198R +3 more)	Single nucleotide variant (missense variant)	MECP2-related disorder	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 2420557	NM_001110792.2(MECP2):c.838C>A (p.Arg280=)	MECP2	Single nucleotide variant (synonymous variant)	Severe neonatal-onset encephalopathy with microcephaly	GLikely benign
Select item 2124185	NM_001110792.2(MECP2):c.414-5C>T	MECP2	Single nucleotide variant (intron variant)	Severe neonatal-onset encephalopathy with microcephaly	GBenign
Select item 1723812	NM_001110792.2(MECP2):c.484C>G (p.Leu162Val)	MECP2 (L150V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1714893	NM_001110792.2(MECP2):c.1111T>G (p.Ser371Ala)	MECP2 (S136A +3 more)	Single nucleotide variant (missense variant)	Severe neonatal-onset encephalopathy with microcephaly	GUncertain significance
Select item 1700183	NM_001110792.2(MECP2):c.1240_1241insT (p.Pro414fs)	MECP2 (P179fs +3 more)	Insertion (frameshift variant)	Neurodevelopmental delay +2 more	GConflicting classifications of pathogenicity
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 1638023	NM_001110792.2(MECP2):c.1292C>T (p.Pro431Leu)	MECP2 (P196L +3 more)	Single nucleotide variant (missense variant)	See cases +1 more	GConflicting classifications of pathogenicity
Select item 1630114	NM_001110792.2(MECP2):c.1109C>T (p.Ala370Val)	MECP2 (A135V +3 more)	Single nucleotide variant (missense variant)	Severe neonatal-onset encephalopathy with microcephaly	GLikely benign
Select item 1604076	NM_001110792.2(MECP2):c.631C>T (p.Pro211Ser)	MECP2 (P106S +2 more)	Single nucleotide variant (missense variant +1 more)	Severe neonatal-onset encephalopathy with microcephaly	GBenign
Select item 1599193	NM_001110792.2(MECP2):c.573C>G (p.Pro191=)	MECP2	Single nucleotide variant (synonymous variant +1 more)	Severe neonatal-onset encephalopathy with microcephaly	GBenign
Select item 1596057	NM_001110792.2(MECP2):c.1323C>T (p.Cys441=)	MECP2	Single nucleotide variant (synonymous variant)	Severe neonatal-onset encephalopathy with microcephaly	GLikely benign
Select item 1568307	NM_001110792.2(MECP2):c.484C>T (p.Leu162=)	MECP2	Single nucleotide variant (synonymous variant +1 more)	Severe neonatal-onset encephalopathy with microcephaly	GBenign
Select item 1562142	NM_001110792.2(MECP2):c.1131G>A (p.Glu377=)	MECP2	Single nucleotide variant (synonymous variant)	Severe neonatal-onset encephalopathy with microcephaly	GBenign
Select item 1557919	NM_001110792.2(MECP2):c.1419T>C (p.Ile473=)	MECP2	Single nucleotide variant (synonymous variant)	Severe neonatal-onset encephalopathy with microcephaly	GLikely benign
Select item 1551346	NM_001110792.2(MECP2):c.888A>G (p.Lys296=)	MECP2	Single nucleotide variant (synonymous variant)	Severe neonatal-onset encephalopathy with microcephaly	GBenign
Select item 1541173	NM_001110792.2(MECP2):c.435C>T (p.Arg145=)	MECP2	Single nucleotide variant (synonymous variant +1 more)	Severe neonatal-onset encephalopathy with microcephaly	GLikely benign
Select item 1537416	NM_001110792.2(MECP2):c.682A>G (p.Ser228Gly)	MECP2 (S123G +2 more)	Single nucleotide variant (missense variant +1 more)	Severe neonatal-onset encephalopathy with microcephaly	GBenign
Select item 1522282	NM_001110792.2(MECP2):c.68A>G (p.Glu23Gly)	MECP2 (E11G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1407645	NM_001110792.2(MECP2):c.1354G>C (p.Val452Leu)	MECP2 (V217L +3 more)	Single nucleotide variant (missense variant)	Severe neonatal-onset encephalopathy with microcephaly	GUncertain significance
Select item 1326200	NM_001110792.2(MECP2):c.642C>T (p.Ala214=)	MECP2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
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 1305774	NM_001110792.2(MECP2):c.242G>T (p.Gly81Val)	MECP2 (G69V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1199739	NM_001110792.2(MECP2):c.741G>A (p.Glu247=)	MECP2	Single nucleotide variant (synonymous variant)	Severe neonatal-onset encephalopathy with microcephaly +1 more	GLikely benign
Select item 1189793	NM_001110792.2(MECP2):c.562C>T (p.Pro188Ser)	MECP2 (P176S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 1176610	NM_001110792.2(MECP2):c.840G>A (p.Arg280=)	MECP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely 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 1166038	NM_001110792.2(MECP2):c.587C>G (p.Thr196Ser)	MECP2 (T184S +2 more)	Single nucleotide variant (missense variant +1 more)	Severe neonatal-onset encephalopathy with microcephaly	GBenign
Select item 1143545	NM_001110792.2(MECP2):c.1119C>T (p.Pro373=)	MECP2	Single nucleotide variant (synonymous variant)	Severe neonatal-onset encephalopathy with microcephaly	GLikely benign
Select item 1131428	NM_001110792.2(MECP2):c.917G>A (p.Arg306Gln)	MECP2 (R201Q +3 more)	Single nucleotide variant (missense variant)	Severe neonatal-onset encephalopathy with microcephaly +1 more	GLikely benign
Select item 1127365	NM_001110792.2(MECP2):c.954C>G (p.Arg318=)	MECP2	Single nucleotide variant (synonymous variant)	Severe neonatal-onset encephalopathy with microcephaly	GLikely benign
Select item 1107931	NM_001110792.2(MECP2):c.990A>G (p.Glu330=)	MECP2	Single nucleotide variant (synonymous variant)	Severe neonatal-onset encephalopathy with microcephaly	GLikely benign
Select item 1097635	NM_001110792.2(MECP2):c.969G>A (p.Thr323=)	MECP2	Single nucleotide variant (synonymous variant)	Severe neonatal-onset encephalopathy with microcephaly	GLikely benign
Select item 1079195	NM_001110792.2(MECP2):c.861G>A (p.Val287=)	MECP2	Single nucleotide variant (synonymous variant)	Severe neonatal-onset encephalopathy with microcephaly	GLikely benign
Select item 1078465	NM_001110792.2(MECP2):c.45A>C (p.Gly15=)	MECP2	Single nucleotide variant (synonymous variant +1 more)	Severe neonatal-onset encephalopathy with microcephaly	GLikely benign
Select item 1063351	NM_001110792.2(MECP2):c.869C>T (p.Ala290Val)	MECP2 (A185V +3 more)	Single nucleotide variant (missense variant)	MECP2-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1053099	NM_001110792.2(MECP2):c.248C>G (p.Ala83Gly)	MECP2 (A71G +1 more)	Single nucleotide variant (missense variant +1 more)	Severe neonatal-onset encephalopathy with microcephaly	GUncertain significance
Select item 1006465	NM_001110792.2(MECP2):c.1207C>A (p.Pro403Thr)	MECP2 (P168T +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 998971	NM_001110792.2(MECP2):c.911C>G (p.Ser304Cys)	MECP2 (S199C +3 more)	Single nucleotide variant (missense variant)	Severe neonatal-onset encephalopathy with microcephaly	GUncertain significance
Select item 975956	NM_001110792.2(MECP2):c.1328A>C (p.Lys443Thr)	MECP2 (K338T +2 more)	Single nucleotide variant (missense variant)	Rett syndrome +1 more	GUncertain significance
Select item 973011	NM_001110792.2(MECP2):c.1270G>T (p.Val424Phe)	MECP2 (V412F +2 more)	Single nucleotide variant (missense variant)	MECP2-related disorder	Gnot provided
Select item 969463	NM_001110792.2(MECP2):c.55G>A (p.Glu19Lys)	MECP2 (E19K)	Single nucleotide variant (missense variant +1 more)	Rett syndrome	GBenign FDA Recognized database
Select item 851266	NM_001110792.2(MECP2):c.641C>G (p.Ala214Gly)	MECP2 (A109G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 807856	NM_001110792.2(MECP2):c.171C>T (p.Pro57=)	MECP2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 748765	NM_001110792.2(MECP2):c.1223C>T (p.Ser408Phe)	MECP2 (S396F +3 more)	Single nucleotide variant (missense variant)	Severe neonatal-onset encephalopathy with microcephaly	GLikely benign
Select item 704193	NM_001110792.2(MECP2):c.1122C>G (p.Pro374=)	MECP2	Single nucleotide variant (synonymous variant)	Severe neonatal-onset encephalopathy with microcephaly	GLikely benign
Select item 700440	NM_001110792.2(MECP2):c.1365C>T (p.Ala455=)	MECP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 699966	NM_001110792.2(MECP2):c.1293C>T (p.Pro431=)	MECP2	Single nucleotide variant (synonymous variant)	Severe neonatal-onset encephalopathy with microcephaly +4 more	GBenign/Likely benign
Select item 698472	NM_001110792.2(MECP2):c.609C>G (p.Pro203=)	MECP2	Single nucleotide variant (synonymous variant +1 more)	Severe neonatal-onset encephalopathy with microcephaly	GLikely benign
Select item 589702	NM_001110792.2(MECP2):c.81C>T (p.Asp27=)	MECP2	Single nucleotide variant (synonymous variant +1 more)	Severe neonatal-onset encephalopathy with microcephaly +1 more	GBenign/Likely benign
Select item 588643	NM_001110792.2(MECP2):c.6CGC[5] (p.Ala8del)	LOC130068854, MECP2 (A8del)	Microsatellite (inframe_deletion +1 more)	Severe neonatal-onset encephalopathy with microcephaly +6 more	GBenign/Likely benign
Select item 547516	NM_001110792.2(MECP2):c.898G>A (p.Val300Met)	MECP2 (V288M +3 more)	Single nucleotide variant (missense variant)	Rett syndrome +2 more	GBenign/Likely benign
Select item 536590	NM_001110792.2(MECP2):c.531C>T (p.Pro177=)	MECP2	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GBenign/Likely benign

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