ClinVar for MedGen (Select 163232) - ClinVar

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Items: 96

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2585476	NM_001110792.2(MECP2):c.1130A>G (p.Glu377Gly)	MECP2 (E377G +3 more)	Single nucleotide variant (missense variant)	X-linked intellectual disability-psychosis-macroorchidism syndrome	GUncertain significance
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 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 1801343	NM_001110792.2(MECP2):c.1152_1155del (p.His384fs)	MECP2 (H149fs +3 more)	Deletion (frameshift variant)	Syndromic X-linked intellectual disability Lubs type +1 more	GLikely pathogenic
Select item 1721248	NM_001110792.2(MECP2):c.580C>T (p.Pro194Ser)	MECP2 (P182S +2 more)	Single nucleotide variant (missense variant +1 more)	Severe neonatal-onset encephalopathy with microcephaly +1 more	GUncertain significance
Select item 1685942	NM_001110792.2(MECP2):c.618dup (p.Gly207fs)	MECP2 (G102fs +2 more)	Duplication (frameshift variant +1 more)	X-linked intellectual disability-psychosis-macroorchidism syndrome	GPathogenic
Select item 1685940	NM_001110792.2(MECP2):c.642del (p.Thr215fs)	MECP2 (T110fs +2 more)	Deletion (frameshift variant +1 more)	X-linked intellectual disability-psychosis-macroorchidism syndrome	GPathogenic
Select item 1685939	NM_001110792.2(MECP2):c.946AAG[1] (p.Lys317del)	MECP2 (K212del +3 more)	Microsatellite (inframe_deletion)	X-linked intellectual disability-psychosis-macroorchidism syndrome	GPathogenic
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 1439710	NM_001110792.2(MECP2):c.724C>A (p.Pro242Thr)	MECP2 (P230T +3 more)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 1342961	NM_001110792.2(MECP2):c.1147C>T (p.His383Tyr)	MECP2 (H148Y +3 more)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability Lubs type +1 more	GUncertain significance
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 699966	NM_001110792.2(MECP2):c.1293C>T (p.Pro431=)	MECP2	Single nucleotide variant (synonymous variant)	MECP2-related disorder +5 more	GBenign/Likely benign
Select item 625979	NM_001110792.2(MECP2):c.991G>A (p.Val331Met)	MECP2 (V319M +3 more)	Single nucleotide variant (missense variant)	X-linked intellectual disability-psychosis-macroorchidism syndrome +4 more	GUncertain significance
Select item 588643	NM_001110792.2(MECP2):c.6CGC[5] (p.Ala8del)	LOC130068854, MECP2 (A8del)	Microsatellite (inframe_deletion +1 more)	Rett syndrome +7 more	GBenign/Likely benign
Select item 548031	NM_001110792.2(MECP2):c.1173dup (p.Val392fs)	MECP2 (V392fs +3 more)	Duplication (frameshift variant)	not provided +3 more	GPathogenic
Select item 536579	NM_001110792.2(MECP2):c.1173del (p.Val392fs)	MECP2 (V392fs +3 more)	Deletion (frameshift variant)	Rett syndrome +2 more	GPathogenic/Likely pathogenic
Select item 417368	NC_000023.10:g.(?_153287264)_(153363188_?)dup	MECP2	Duplication	X-linked intellectual disability-psychosis-macroorchidism syndrome +2 more	GPathogenic
Select item 375620	NM_001110792.2(MECP2):c.1147dup (p.His383fs)	MECP2 (H383fs +3 more)	Duplication (frameshift variant)	X-linked intellectual disability-psychosis-macroorchidism syndrome	GPathogenic
Select item 280541	NM_001110792.2(MECP2):c.1122dup (p.Lys375fs)	MECP2 (K270fs +3 more)	Duplication (frameshift variant)	not provided +3 more	GPathogenic
Select item 189774	NM_001110792.2(MECP2):c.49G>A (p.Glu17Lys)	MECP2 (E17K)	Single nucleotide variant (missense variant +1 more)	Rett syndrome	GUncertain significance
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 189763	NM_001110792.2(MECP2):c.6CGC[8] (p.Ala7_Ala8dup)	LOC130068854, MECP2	Microsatellite (5 prime UTR variant +1 more)	Rett syndrome	GBenign FDA Recognized database
Select item 189762	NM_001110792.2(MECP2):c.6CGC[9] (p.Ala6_Ala8dup)	LOC130068854, MECP2	Microsatellite (inframe_insertion +1 more)	Severe neonatal-onset encephalopathy with microcephaly +2 more	GConflicting classifications of pathogenicity
Select item 189758	NM_004992.3:c.(?_-226)_(*1_?)dup	MECP2	Duplication	X-linked intellectual disability-psychosis-macroorchidism syndrome	GUncertain significance
Select item 189757	NM_001110792.2(MECP2):c.1269_1279del (p.Ser423fs)	MECP2 (S318fs +3 more)	Deletion (frameshift variant)	Rett syndrome	GUncertain significance
Select item 189754	NM_001110792.2(MECP2):c.1197_1436del (p.Pro400_Pro479del)	MECP2	Deletion (inframe_deletion)	Rett syndrome	GUncertain significance FDA Recognized database
Select item 189648	NM_001110792.2(MECP2):c.1137_1237del (p.His379fs)	MECP2 (H379fs +2 more)	Deletion (frameshift variant)	Syndromic X-linked intellectual disability Lubs type +3 more	GPathogenic
Select item 188500	NM_001110792.2(MECP2):c.1049C>G (p.Thr350Ser)	MECP2 (T338S +3 more)	Single nucleotide variant (missense variant)	not specified +5 more	GUncertain significance
Select item 156669	NM_001110792.2(MECP2):c.727G>A (p.Gly243Arg)	MECP2 (G231R +3 more)	Single nucleotide variant (missense variant)	Rett syndrome	GLikely benign FDA Recognized database
Select item 156668	NM_001110792.2(MECP2):c.641C>T (p.Ala214Val)	MECP2 (A202V +2 more)	Single nucleotide variant (missense variant +1 more)	Rett syndrome +6 more	GBenign/Likely benign
Select item 156657	NM_001110792.2(MECP2):c.6CGC[4] (p.Ala7_Ala8del)	LOC130068854, MECP2	Microsatellite (5 prime UTR variant +1 more)	Rett syndrome	GUncertain significance FDA Recognized database
Select item 156656	NM_001110792.2(MECP2):c.-31AG[2]	LOC130068854, MECP2	Microsatellite (5 prime UTR variant)	Rett syndrome	GBenign FDA Recognized database
Select item 156636	NM_001110792.2(MECP2):c.1469G>A (p.Arg490Gln)	MECP2 (R478Q +3 more)	Single nucleotide variant (missense variant)	Rett syndrome	GLikely benign FDA Recognized database
Select item 156634	NM_001110792.2(MECP2):c.1291C>T (p.Pro431Ser)	MECP2 (P419S +3 more)	Single nucleotide variant (missense variant)	Rett syndrome	GBenign FDA Recognized database
Select item 156615	NM_001110792.2(MECP2):c.1165_1234del (p.Lys389fs)	MECP2 (K389fs +3 more)	Deletion (frameshift variant)	Rett syndrome	GUncertain significance FDA Recognized database
Select item 156070	NM_001110792.2(MECP2):c.414-61C>G	MECP2	Single nucleotide variant (intron variant)	Rett syndrome	GBenign
Select item 156068	NM_001110792.2(MECP2):c.414-3C>G	MECP2	Single nucleotide variant (intron variant)	Rett syndrome	GPathogenic FDA Recognized database
Select item 156055	NM_001110792.2(MECP2):c.413+24C>A	MECP2	Single nucleotide variant (intron variant)	Rett syndrome	GLikely benign FDA Recognized database
Select item 143754	NM_001110792.2(MECP2):c.1001C>T (p.Pro334Leu)	MECP2 (P322L +3 more)	Single nucleotide variant (missense variant)	Rett syndrome	GPathogenic FDA Recognized database
Select item 143750	NM_001110792.2(MECP2):c.978C>T (p.Ile326=)	MECP2	Single nucleotide variant (synonymous variant)	Rett syndrome +7 more	GBenign/Likely benign
Select item 143749	NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp)	MECP2 (R309W +3 more)	Single nucleotide variant (missense variant)	Rett syndrome	GPathogenic FDA Recognized database
Select item 143734	NM_001110792.2(MECP2):c.940C>G (p.Pro314Ala)	MECP2 (P302A +3 more)	Single nucleotide variant (missense variant)	X-linked intellectual disability-psychosis-macroorchidism syndrome +1 more	GPathogenic
Select item 143712	NM_001110792.2(MECP2):c.886A>G (p.Lys296Glu)	MECP2 (K284E +3 more)	Single nucleotide variant (missense variant)	Rett syndrome	GUncertain significance
Select item 143710	NM_001110792.2(MECP2):c.872C>T (p.Ala291Val)	MECP2 (A279V +3 more)	Single nucleotide variant (missense variant)	X-linked intellectual disability-psychosis-macroorchidism syndrome +3 more	GConflicting classifications of pathogenicity
Select item 143700	NM_001110792.2(MECP2):c.838C>T (p.Arg280Trp)	MECP2 (R268W +3 more)	Single nucleotide variant (missense variant)	Rett syndrome	GUncertain significance FDA Recognized database
Select item 143695	NM_001110792.2(MECP2):c.112del (p.Leu38fs)	MECP2 (L26fs +1 more)	Deletion (frameshift variant +1 more)	Rett syndrome +1 more	GPathogenic
Select item 143656	NM_001110792.2(MECP2):c.715C>G (p.Gln239Glu)	MECP2 (Q227E +3 more)	Single nucleotide variant (missense variant)	Rett syndrome	GUncertain significance FDA Recognized database
Select item 143627	NM_001110792.2(MECP2):c.623C>G (p.Thr208Ser)	MECP2 (T196S +2 more)	Single nucleotide variant (missense variant +1 more)	Rett syndrome +8 more	GBenign/Likely benign
Select item 143608	NM_001110792.2(MECP2):c.553C>G (p.Pro185Ala)	MECP2 (P173A +2 more)	Single nucleotide variant (missense variant +1 more)	Rett syndrome	GLikely benign FDA Recognized database
Select item 143606	NM_001110792.2(MECP2):c.550C>T (p.Pro184Ser)	MECP2 (P172S +2 more)	Single nucleotide variant (missense variant +1 more)	Severe neonatal-onset encephalopathy with microcephaly +1 more	GUncertain significance
Select item 143603	NM_001110792.2(MECP2):c.535C>T (p.Arg179Trp)	MECP2 (R167W +2 more)	Single nucleotide variant (missense variant +1 more)	Rett syndrome	GPathogenic FDA Recognized database
Select item 143579	NM_001110792.2(MECP2):c.491C>G (p.Pro164Arg)	MECP2 (P152R +2 more)	Single nucleotide variant (missense variant +1 more)	Rett syndrome	GPathogenic FDA Recognized database
Select item 143534	NM_001110792.2(MECP2):c.353G>A (p.Arg118Gln)	MECP2 (R106Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 143492	NM_001110792.2(MECP2):c.182C>G (p.Ser61Ter)	MECP2 (S49* +1 more)	Single nucleotide variant (nonsense +1 more)	X-linked intellectual disability-psychosis-macroorchidism syndrome +1 more	GPathogenic
Select item 143474	NM_001110792.2(MECP2):c.1451_1452del (p.Glu484fs)	MECP2 (E484fs +3 more)	Microsatellite (frameshift variant)	Rett syndrome +1 more	GPathogenic/Likely pathogenic
Select item 143468	NM_001110792.2(MECP2):c.1394G>A (p.Arg465Gln)	MECP2 (R453Q +3 more)	Single nucleotide variant (missense variant)	Rett syndrome	GLikely benign
Select item 143458	NM_001110792.2(MECP2):c.1351G>A (p.Ala451Thr)	MECP2 (A439T +3 more)	Single nucleotide variant (missense variant)	not provided +5 more	GBenign/Likely benign
Select item 143452	NM_001110792.2(MECP2):c.1302C>T (p.Gly434=)	MECP2	Single nucleotide variant (synonymous variant)	Rett syndrome +6 more	GBenign/Likely benign
Select item 143441	NM_001110792.2(MECP2):c.1252C>T (p.Gln418Ter)	MECP2 (Q406* +3 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 143438	NM_001110792.2(MECP2):c.1250C>T (p.Pro417Leu)	MECP2 (P405L +3 more)	Single nucleotide variant (missense variant)	Rett syndrome	GBenign FDA Recognized database
Select item 143406	NM_001110792.2(MECP2):c.1200_1243del (p.Pro400_Pro401insTer)	MECP2	Deletion (frameshift variant)	Rett syndrome	GPathogenic FDA Recognized database
Select item 143395	NM_001110792.2(MECP2):c.1198_1199delinsTA (p.Pro400Ter)	MECP2 (P400* +3 more)	Indel (nonsense)	Inborn genetic diseases +4 more	GPathogenic
Select item 143383	NM_001110792.2(MECP2):c.1196C>T (p.Pro399Leu)	MECP2 (P387L +3 more)	Single nucleotide variant (missense variant)	Rett syndrome	GBenign FDA Recognized database
Select item 143379	NM_001110792.2(MECP2):c.1195_1196delinsT (p.Pro399fs)	MECP2 (P294fs +3 more)	Indel (frameshift variant)	Rett syndrome	GPathogenic
Select item 143369	NM_001110792.2(MECP2):c.1193_1233del (p.Leu398fs)	MECP2 (L398fs +2 more)	Deletion (frameshift variant)	Severe neonatal-onset encephalopathy with microcephaly +3 more	GPathogenic/Likely pathogenic
Select item 143344	NM_001110792.2(MECP2):c.1174G>A (p.Val392Met)	MECP2 (V380M +3 more)	Single nucleotide variant (missense variant)	Rett syndrome	GBenign FDA Recognized database
Select item 143342	NM_001110792.2(MECP2):c.1171_1178del (p.Pro391fs)	MECP2 (P379fs +3 more)	Deletion (frameshift variant)	Rett syndrome +3 more	GPathogenic
Select item 143328	NM_001110792.2(MECP2):c.144_147del (p.Glu49fs)	MECP2 (E37fs +1 more)	Microsatellite (5 prime UTR variant +1 more)	Rett syndrome +4 more	GPathogenic
Select item 138195	NM_001110792.2(MECP2):c.1241C>T (p.Pro414Leu)	MECP2 (P402L +3 more)	Single nucleotide variant (missense variant)	Rett syndrome	GBenign FDA Recognized database
Select item 138188	NM_001110792.2(MECP2):c.638C>T (p.Ala213Val)	MECP2 (A201V +2 more)	Single nucleotide variant (missense variant +1 more)	Rett syndrome	GBenign FDA Recognized database
Select item 138187	NM_001110792.2(MECP2):c.626C>T (p.Thr209Met)	MECP2 (T197M +2 more)	Single nucleotide variant (missense variant +1 more)	MECP2-related disorder +6 more	GBenign/Likely benign
Select item 138186	NM_001110792.2(MECP2):c.246C>T (p.Ser82=)	MECP2	Single nucleotide variant (synonymous variant +1 more)	Syndromic X-linked intellectual disability Lubs type +7 more	GBenign/Likely benign
Select item 95205	NM_001110792.2(MECP2):c.933C>T (p.Thr311=)	MECP2	Single nucleotide variant (synonymous variant)	not provided +7 more	GBenign/Likely benign
Select item 95202	NM_001110792.2(MECP2):c.842del (p.Gly281fs)	MECP2 (G176fs +3 more)	Deletion (frameshift variant)	Rett syndrome	GPathogenic FDA Recognized database
Select item 95193	NM_001110792.2(MECP2):c.1409G>A (p.Arg470His)	MECP2 (R458H +3 more)	Single nucleotide variant (missense variant)	not specified +7 more	GBenign/Likely benign
Select item 95187	NM_001110792.2(MECP2):c.1225G>A (p.Glu409Lys)	MECP2 (E397K +3 more)	Single nucleotide variant (missense variant)	Rett syndrome	GBenign FDA Recognized database
Select item 36496	NM_001110792.2(MECP2):c.968C>T (p.Thr323Met)	MECP2 (T311M +3 more)	Single nucleotide variant (missense variant)	Rett syndrome	GBenign FDA Recognized database
Select item 36495	NM_001110792.2(MECP2):c.945C>G (p.Ile315Met)	MECP2 (I303M +3 more)	Single nucleotide variant (missense variant)	Rett syndrome	GLikely pathogenic
Select item 36491	NM_001110792.2(MECP2):c.1363G>A (p.Ala455Thr)	MECP2 (A443T +3 more)	Single nucleotide variant (missense variant)	Rett syndrome	GBenign FDA Recognized database
Select item 36490	NM_001110792.2(MECP2):c.1187C>T (p.Pro396Leu)	MECP2 (P384L +3 more)	Single nucleotide variant (missense variant)	Rett syndrome	GLikely benign FDA Recognized database
Select item 11844	NM_001110792.2(MECP2):c.490C>G (p.Pro164Ala)	MECP2 (P152A +2 more)	Single nucleotide variant (missense variant +1 more)	Rett syndrome	GLikely pathogenic FDA Recognized database
Select item 11843	NM_001110792.2(MECP2):c.1000C>T (p.Pro334Ser)	MECP2 (P322S +3 more)	Single nucleotide variant (missense variant)	Rett syndrome +1 more	GPathogenic/Likely pathogenic
Select item 11841	NM_001110792.2(MECP2):c.710C>T (p.Pro237Leu)	MECP2 (P225L +3 more)	Single nucleotide variant (missense variant)	Rett syndrome	GLikely pathogenic
Select item 11829	NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter)	MECP2 (R255* +3 more)	Single nucleotide variant (nonsense)	Syndromic X-linked intellectual disability Lubs type +9 more	GPathogenic/Likely pathogenic
Select item 11825	NM_001110792.2(MECP2):c.446A>G (p.Glu149Gly)	MECP2 (E137G +2 more)	Single nucleotide variant (missense variant +1 more)	Severe neonatal-onset encephalopathy with microcephaly +1 more	GPathogenic/Likely pathogenic
Select item 11824	NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys)	MECP2 (R306C +3 more)	Single nucleotide variant (missense variant)	Rett syndrome	GPathogenic FDA Recognized database
Select item 11823	NM_001110792.2(MECP2):c.455C>T (p.Ala152Val)	MECP2 (A140V +2 more)	Single nucleotide variant (missense variant +1 more)	Syndromic X-linked intellectual disability Lubs type +15 more	GPathogenic/Likely pathogenic
Select item 11819	NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter)	MECP2 (R294* +3 more)	Single nucleotide variant (nonsense)	Rett syndrome	GPathogenic FDA Recognized database
Select item 11817	NM_001110792.2(MECP2):c.1216G>T (p.Glu406Ter)	MECP2 (E406* +3 more)	Single nucleotide variant (nonsense)	Rett syndrome	GPathogenic
Select item 11815	NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter)	MECP2 (R270* +3 more)	Single nucleotide variant (nonsense)	not provided +8 more	GPathogenic
Select item 11814	NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp)	MECP2 (R106W +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +7 more	GPathogenic/Likely pathogenic
Select item 11811	NM_001110792.2(MECP2):c.509C>T (p.Thr170Met)	MECP2 (T158M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +9 more	GPathogenic/Likely pathogenic
Select item 11809	NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys)	MECP2 (R133C +2 more)	Single nucleotide variant (missense variant +1 more)	Rett syndrome	GPathogenic FDA Recognized database

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Items: 96