ClinVar for MedGen (Select 409616) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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
Select item 2878494	NM_001110792.2(MECP2):c.483C>T (p.Ser161=)	MECP2	Single nucleotide variant (synonymous variant +1 more)	Severe neonatal-onset encephalopathy with microcephaly	GLikely benign
Select item 2873263	NM_001110792.2(MECP2):c.591C>A (p.Gly197=)	MECP2	Single nucleotide variant (synonymous variant +1 more)	Severe neonatal-onset encephalopathy with microcephaly	GLikely benign
Select item 2864493	NM_001110792.2(MECP2):c.822G>C (p.Gln274His)	MECP2 (Q262H +3 more)	Single nucleotide variant (missense variant)	Severe neonatal-onset encephalopathy with microcephaly	GUncertain significance
Select item 2862901	NM_001110792.2(MECP2):c.1008G>C (p.Leu336=)	MECP2	Single nucleotide variant (synonymous variant)	Severe neonatal-onset encephalopathy with microcephaly	GLikely benign
Select item 2861319	NM_001110792.2(MECP2):c.1193T>C (p.Leu398Pro)	MECP2 (L163P +3 more)	Single nucleotide variant (missense variant)	Severe neonatal-onset encephalopathy with microcephaly	GLikely benign
Select item 2861149	NM_001110792.2(MECP2):c.1136_*557del (p.His379fs)	MECP2 (H274fs +3 more)	Deletion (frameshift variant)	Severe neonatal-onset encephalopathy with microcephaly	GPathogenic
Select item 2859607	NM_001110792.2(MECP2):c.1093G>A (p.Gly365Arg)	MECP2 (G130R +3 more)	Single nucleotide variant (missense variant)	Severe neonatal-onset encephalopathy with microcephaly	GUncertain significance
Select item 2858886	NM_001110792.2(MECP2):c.1026G>C (p.Glu342Asp)	MECP2 (E237D +3 more)	Single nucleotide variant (missense variant)	Severe neonatal-onset encephalopathy with microcephaly	GUncertain significance
Select item 2858595	NM_001110792.2(MECP2):c.368G>C (p.Arg123Thr)	MECP2 (R123T +2 more)	Single nucleotide variant (missense variant +1 more)	Severe neonatal-onset encephalopathy with microcephaly	GLikely pathogenic
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 2858525	NM_001110792.2(MECP2):c.1204C>T (p.Pro402Ser)	MECP2 (P402S +3 more)	Single nucleotide variant (missense variant)	Severe neonatal-onset encephalopathy with microcephaly	GLikely benign
Select item 2856790	NM_001110792.2(MECP2):c.414-7C>G	MECP2	Single nucleotide variant (intron variant)	Severe neonatal-onset encephalopathy with microcephaly	GLikely benign
Select item 2855985	NM_001110792.2(MECP2):c.1095G>T (p.Gly365=)	MECP2	Single nucleotide variant (synonymous variant)	Severe neonatal-onset encephalopathy with microcephaly	GLikely benign
Select item 2855653	NM_001110792.2(MECP2):c.904dup (p.Glu302fs)	MECP2 (E197fs +3 more)	Duplication (frameshift variant)	Severe neonatal-onset encephalopathy with microcephaly	GPathogenic
Select item 2854730	NM_001110792.2(MECP2):c.1192C>T (p.Leu398=)	MECP2	Single nucleotide variant (synonymous variant)	Severe neonatal-onset encephalopathy with microcephaly	GLikely benign
Select item 2852774	NM_001110792.2(MECP2):c.424A>G (p.Lys142Glu)	MECP2 (K142E +2 more)	Single nucleotide variant (missense variant +1 more)	Severe neonatal-onset encephalopathy with microcephaly	GUncertain significance
Select item 2851768	NM_001110792.2(MECP2):c.1163_1187del (p.Pro388fs)	MECP2 (P388fs +3 more)	Deletion (frameshift variant)	Severe neonatal-onset encephalopathy with microcephaly	GPathogenic
Select item 2851672	NM_001110792.2(MECP2):c.62+5440T>G	MECP2	Single nucleotide variant (intron variant)	Severe neonatal-onset encephalopathy with microcephaly	GLikely benign
Select item 2849846	NM_001110792.2(MECP2):c.957G>C (p.Lys319Asn)	MECP2 (K214N +3 more)	Single nucleotide variant (missense variant)	Severe neonatal-onset encephalopathy with microcephaly	GLikely pathogenic
Select item 2848886	NM_001110792.2(MECP2):c.1442C>T (p.Pro481Leu)	MECP2 (P246L +3 more)	Single nucleotide variant (missense variant)	Severe neonatal-onset encephalopathy with microcephaly	GUncertain significance
Select item 2847994	NM_001110792.2(MECP2):c.20_27dup (p.Ser10fs)	MECP2 (S10fs)	Duplication (5 prime UTR variant +1 more)	Severe neonatal-onset encephalopathy with microcephaly	GPathogenic
Select item 2847232	NM_001110792.2(MECP2):c.1363GCC[1] (p.Ala456del)	MECP2 (A351del +3 more)	Microsatellite (inframe_deletion)	Severe neonatal-onset encephalopathy with microcephaly	GUncertain significance
Select item 2846315	NM_001110792.2(MECP2):c.1190C>T (p.Pro397Leu)	MECP2 (P292L +3 more)	Single nucleotide variant (missense variant)	Severe neonatal-onset encephalopathy with microcephaly	GLikely benign
Select item 2845786	NM_001110792.2(MECP2):c.727G>C (p.Gly243Arg)	MECP2 (G8R +3 more)	Single nucleotide variant (missense variant)	Severe neonatal-onset encephalopathy with microcephaly	GBenign
Select item 2845286	NM_001110792.2(MECP2):c.294C>T (p.Ser98=)	MECP2	Single nucleotide variant (5 prime UTR variant +1 more)	Severe neonatal-onset encephalopathy with microcephaly	GLikely benign
Select item 2842455	NM_001110792.2(MECP2):c.255T>C (p.Ala85=)	MECP2	Single nucleotide variant (synonymous variant +1 more)	Severe neonatal-onset encephalopathy with microcephaly	GLikely benign
Select item 2839997	NM_001110792.2(MECP2):c.1475C>T (p.Pro492Leu)	MECP2 (P480L +3 more)	Single nucleotide variant (missense variant)	Severe neonatal-onset encephalopathy with microcephaly	GUncertain significance
Select item 2839447	NM_001110792.2(MECP2):c.1479G>A (p.Val493=)	MECP2	Single nucleotide variant (synonymous variant)	Severe neonatal-onset encephalopathy with microcephaly	GLikely benign
Select item 2839273	NM_001110792.2(MECP2):c.1007_1364del (p.Leu336fs)	MECP2 (L336fs +3 more)	Deletion (frameshift variant)	Severe neonatal-onset encephalopathy with microcephaly	GPathogenic
Select item 2837966	NM_001110792.2(MECP2):c.1467C>T (p.Ser489=)	MECP2	Single nucleotide variant (synonymous variant)	Severe neonatal-onset encephalopathy with microcephaly	GLikely benign
Select item 2837505	NM_001110792.2(MECP2):c.762del (p.Thr255fs)	MECP2 (T150fs +3 more)	Deletion (frameshift variant)	Severe neonatal-onset encephalopathy with microcephaly	GPathogenic
Select item 2835698	NM_001110792.2(MECP2):c.1072A>G (p.Ser358Gly)	MECP2 (S123G +3 more)	Single nucleotide variant (missense variant)	Severe neonatal-onset encephalopathy with microcephaly	GUncertain significance
Select item 2834398	NM_001110792.2(MECP2):c.648A>G (p.Ser216=)	MECP2	Single nucleotide variant (synonymous variant +1 more)	Severe neonatal-onset encephalopathy with microcephaly	GLikely benign
Select item 2833112	NM_001110792.2(MECP2):c.765C>T (p.Thr255=)	MECP2	Single nucleotide variant (synonymous variant)	Severe neonatal-onset encephalopathy with microcephaly	GLikely benign
Select item 2832782	NM_001110792.2(MECP2):c.543G>A (p.Glu181=)	MECP2	Single nucleotide variant (synonymous variant +1 more)	Severe neonatal-onset encephalopathy with microcephaly	GLikely benign
Select item 2832019	NM_001110792.2(MECP2):c.675G>C (p.Leu225=)	MECP2	Single nucleotide variant (synonymous variant +1 more)	Severe neonatal-onset encephalopathy with microcephaly	GLikely benign
Select item 2831937	NM_001110792.2(MECP2):c.1087_1209delinsACCACCACCA (p.Pro363fs)	MECP2 (P258fs +3 more)	Indel (frameshift variant)	Severe neonatal-onset encephalopathy with microcephaly	GPathogenic
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 +1 more	GLikely benign
Select item 2828943	NM_001110792.2(MECP2):c.1170C>A (p.Ala390=)	MECP2	Single nucleotide variant (synonymous variant)	Severe neonatal-onset encephalopathy with microcephaly	GLikely benign
Select item 2828281	NM_001110792.2(MECP2):c.267T>C (p.Ala89=)	MECP2	Single nucleotide variant (synonymous variant +1 more)	Severe neonatal-onset encephalopathy with microcephaly	GLikely benign
Select item 2826707	NM_001110792.2(MECP2):c.1459G>C (p.Val487Leu)	MECP2 (V382L +3 more)	Single nucleotide variant (missense variant)	Severe neonatal-onset encephalopathy with microcephaly	GUncertain significance
Select item 2826503	NM_001110792.2(MECP2):c.63-20A>G	MECP2	Single nucleotide variant (intron variant)	Severe neonatal-onset encephalopathy with microcephaly	GLikely benign
Select item 2820949	NM_001110792.2(MECP2):c.1266C>T (p.Ser422=)	MECP2	Single nucleotide variant (synonymous variant)	Severe neonatal-onset encephalopathy with microcephaly	GLikely benign
Select item 2817212	NM_001110792.2(MECP2):c.809A>G (p.Glu270Gly)	MECP2 (E270G +3 more)	Single nucleotide variant (missense variant)	Severe neonatal-onset encephalopathy with microcephaly	GUncertain significance
Select item 2816537	NM_001110792.2(MECP2):c.912_916del (p.Arg306fs)	MECP2 (R306fs +3 more)	Deletion (frameshift variant)	Severe neonatal-onset encephalopathy with microcephaly	GPathogenic
Select item 2813538	NM_001110792.2(MECP2):c.871G>T (p.Ala291Ser)	MECP2 (A186S +3 more)	Single nucleotide variant (missense variant)	Severe neonatal-onset encephalopathy with microcephaly	GUncertain significance
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 2809862	NM_001110792.2(MECP2):c.1184_1228delinsC (p.Leu395fs)	MECP2 (L160fs +3 more)	Indel (frameshift variant)	Severe neonatal-onset encephalopathy with microcephaly	GPathogenic
Select item 2808668	NM_001110792.2(MECP2):c.1188_1226delinsGGAGCTCTCGGGTGGTGGT (p.Pro397fs)	MECP2 (P397fs +3 more)	Indel (frameshift variant)	Severe neonatal-onset encephalopathy with microcephaly	GPathogenic
Select item 2807629	NM_001110792.2(MECP2):c.1188A>G (p.Pro396=)	MECP2	Single nucleotide variant (synonymous variant)	Severe neonatal-onset encephalopathy with microcephaly	GLikely benign
Select item 2803882	NM_001110792.2(MECP2):c.871G>A (p.Ala291Thr)	MECP2 (A279T +3 more)	Single nucleotide variant (missense variant)	Severe neonatal-onset encephalopathy with microcephaly	GUncertain significance
Select item 2801800	NM_001110792.2(MECP2):c.1128G>A (p.Lys376=)	MECP2	Single nucleotide variant (synonymous variant)	Severe neonatal-onset encephalopathy with microcephaly	GLikely benign
Select item 2801663	NM_001110792.2(MECP2):c.1248_1249delinsAT (p.Pro417Ser)	MECP2 (P312S +3 more)	Indel (missense variant)	Severe neonatal-onset encephalopathy with microcephaly	GLikely benign
Select item 2799624	NM_001110792.2(MECP2):c.1014C>A (p.Ser338=)	MECP2	Single nucleotide variant (synonymous variant)	Severe neonatal-onset encephalopathy with microcephaly	GLikely benign

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