ClinVar for MedGen (Select 335161) - ClinVar

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Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3338074	NM_001110792.2(MECP2):c.17_27dup (p.Ser10fs)	MECP2 (S10fs)	Duplication (frameshift variant +1 more)	Autism, susceptibility to, X-linked 3	GLikely pathogenic
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 2664190	NM_001110792.2(MECP2):c.564del (p.Lys189fs)	MECP2 (K177fs +2 more)	Deletion (frameshift variant +1 more)	Autism, susceptibility to, X-linked 3	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 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 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 930921	NM_001110792.2(MECP2):c.236G>T (p.Gly79Val)	MECP2 (G67V +1 more)	Single nucleotide variant (missense variant +1 more)	Severe neonatal-onset encephalopathy with microcephaly +1 more	GUncertain significance
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 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)	Inborn genetic diseases +6 more	GBenign/Likely benign
Select item 429893	NM_001110792.2(MECP2):c.1244dup (p.Pro415_Glu416insTer)	MECP2	Duplication (frameshift variant)	Rett syndrome	GUncertain significance FDA Recognized database
Select item 378124	NM_001110792.2(MECP2):c.1448G>C (p.Arg483Thr)	MECP2 (R471T +3 more)	Single nucleotide variant (missense variant)	Rett syndrome	GUncertain significance FDA Recognized database
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 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 156668	NM_001110792.2(MECP2):c.641C>T (p.Ala214Val)	MECP2 (A202V +2 more)	Single nucleotide variant (missense variant +1 more)	Syndromic X-linked intellectual disability Lubs type +5 more	GBenign/Likely benign
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 156068	NM_001110792.2(MECP2):c.414-3C>G	MECP2	Single nucleotide variant (intron variant)	Rett syndrome	GPathogenic FDA Recognized database
Select item 156059	NM_001110792.2(MECP2):c.413+6_413+9del	MECP2	Microsatellite (splice donor variant)	Rett syndrome	GLikely benign FDA Recognized database
Select item 156051	NM_001110792.2(MECP2):c.413+18C>G	MECP2	Single nucleotide variant (intron variant)	Rett syndrome	GLikely benign FDA Recognized database
Select item 156047	NM_001110792.2(MECP2):c.63-55G>A	MECP2	Single nucleotide variant (intron variant)	Rett syndrome	GUncertain significance
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)	not provided +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 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 143666	NM_001110792.2(MECP2):c.746dup (p.Gly250fs)	MECP2 (G145fs +3 more)	Duplication (frameshift variant)	Rett syndrome +2 more	GPathogenic/Likely pathogenic
Select item 143664	NM_001110792.2(MECP2):c.732del (p.Lys245fs)	MECP2 (K245fs +3 more)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 143638	NM_001110792.2(MECP2):c.653G>C (p.Gly218Ala)	MECP2 (G206A +2 more)	Single nucleotide variant (missense variant +1 more)	Rett syndrome	GBenign 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)	Syndromic X-linked intellectual disability Lubs type +7 more	GBenign/Likely benign
Select item 143616	NM_001110792.2(MECP2):c.578C>T (p.Ala193Val)	MECP2 (A181V +2 more)	Single nucleotide variant (missense variant +1 more)	Rett syndrome	GUncertain significance
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 143593	NM_001110792.2(MECP2):c.515C>G (p.Thr172Ser)	MECP2 (T160S +2 more)	Single nucleotide variant (missense variant +1 more)	Rett syndrome	GConflicting classifications of pathogenicity
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 143458	NM_001110792.2(MECP2):c.1351G>A (p.Ala451Thr)	MECP2 (A439T +3 more)	Single nucleotide variant (missense variant)	Rett syndrome +4 more	GBenign/Likely benign
Select item 143452	NM_001110792.2(MECP2):c.1302C>T (p.Gly434=)	MECP2	Single nucleotide variant (synonymous variant)	Syndromic X-linked intellectual disability Lubs type +5 more	GBenign/Likely benign
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 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 143369	NM_001110792.2(MECP2):c.1193_1233del (p.Leu398fs)	MECP2 (L398fs +2 more)	Deletion (frameshift variant)	See cases +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 143336	NM_001110792.2(MECP2):c.1163C>G (p.Pro388Arg)	MECP2 (P376R +3 more)	Single nucleotide variant (missense variant)	Rett syndrome +1 more	GUncertain significance
Select item 143290	NM_001110792.2(MECP2):c.*861T>G	MECP2	Single nucleotide variant (3 prime UTR variant)	Rett syndrome	GBenign
Select item 143281	NM_001110792.2(MECP2):c.*767G>T	MECP2	Single nucleotide variant (3 prime UTR variant)	Rett syndrome	GUncertain significance
Select item 143278	NM_001110792.2(MECP2):c.*554G>A	MECP2	Single nucleotide variant (3 prime UTR variant)	Rett syndrome	GBenign
Select item 143276	NM_001110792.2(MECP2):c.*544G>A	MECP2	Single nucleotide variant (3 prime UTR variant)	Rett syndrome	GBenign
Select item 143275	NM_001110792.2(MECP2):c.*5348T>C	MECP2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 143267	NM_001110792.2(MECP2):c.*371G>C	MECP2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 143264	NM_001110792.2(MECP2):c.*3658C>T	MECP2	Single nucleotide variant (3 prime UTR variant)	Rett syndrome	GBenign
Select item 143259	NM_001110792.2(MECP2):c.*2956G>A	MECP2	Single nucleotide variant (3 prime UTR variant)	Rett syndrome	GBenign
Select item 143258	NM_001110792.2(MECP2):c.*2706G>A	MECP2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 143257	NM_001110792.2(MECP2):c.*2657G>A	MECP2	Single nucleotide variant (3 prime UTR variant)	Rett syndrome	GBenign
Select item 143256	NM_001110792.2(MECP2):c.*2556T>A	MECP2	Single nucleotide variant (3 prime UTR variant)	Rett syndrome	GBenign
Select item 143255	NM_001110792.2(MECP2):c.*204G>A	MECP2	Single nucleotide variant (3 prime UTR variant)	Rett syndrome	GUncertain significance
Select item 143254	NM_001110792.2(MECP2):c.*177G>C	MECP2	Single nucleotide variant (3 prime UTR variant)	Rett syndrome	GBenign
Select item 143252	NM_001110792.2(MECP2):c.*1368C>A	MECP2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 138186	NM_001110792.2(MECP2):c.246C>T (p.Ser82=)	MECP2	Single nucleotide variant (synonymous variant +1 more)	Rett syndrome +6 more	GBenign/Likely benign
Select item 133342	NM_001110792.2(MECP2):c.1483G>T (p.Glu495Ter)	MECP2 (E483* +3 more)	Single nucleotide variant (nonsense)	Rett syndrome	GUncertain significance FDA Recognized database
Select item 95205	NM_001110792.2(MECP2):c.933C>T (p.Thr311=)	MECP2	Single nucleotide variant (synonymous variant)	Severe neonatal-onset encephalopathy with microcephaly +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)	Severe neonatal-onset encephalopathy with microcephaly +6 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 36494	NM_001110792.2(MECP2):c.934G>A (p.Val312Ile)	MECP2 (V300I +3 more)	Single nucleotide variant (missense variant)	Rett syndrome +2 more	GConflicting classifications of pathogenicity
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 11829	NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter)	MECP2 (R255* +3 more)	Single nucleotide variant (nonsense)	not provided +9 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)	Autism, susceptibility to, X-linked 3 +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 11815	NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter)	MECP2 (R270* +3 more)	Single nucleotide variant (nonsense)	Encephalopathy, neonatal severeMental retardation, X-linked, syndromic 13Rett syndrome +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)	Rett syndrome +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)	Inborn genetic diseases +9 more	GPathogenic/Likely pathogenic

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Items: 71