"Eurofins Ntd Llc (ga)"[submitter] AND "MECP2"[gene] - ClinVar

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Items: 83

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 496982	NM_001110792.2(MECP2):c.1486_*24del (p.Arg496_Ter499del)	MECP2	Deletion (stop lost +1 more)	not provided	GLikely pathogenic
Select item 95182	NM_001110792.2(MECP2):c.*14G>A	MECP2	Single nucleotide variant (3 prime UTR variant)	Rett syndrome	GBenign FDA Recognized database
Select item 143298	NM_001110792.2(MECP2):c.*9G>A	MECP2	Single nucleotide variant (3 prime UTR variant)	Rett syndrome +3 more	GBenign
Select item 36492	NM_001110792.2(MECP2):c.1477G>A (p.Val493Met)	MECP2 (V481M +3 more)	Single nucleotide variant (missense variant)	Rett syndrome	GLikely benign FDA Recognized database
Select item 138197	NM_001110792.2(MECP2):c.1473G>A (p.Thr491=)	MECP2	Single nucleotide variant (synonymous variant)	Rett syndrome +4 more	GBenign/Likely benign
Select item 138196	NM_001110792.2(MECP2):c.1440G>A (p.Arg480=)	MECP2	Single nucleotide variant (synonymous variant)	Rett syndrome	GLikely benign FDA Recognized database
Select item 289734	NM_001110792.2(MECP2):c.1410C>T (p.Arg470=)	MECP2	Single nucleotide variant (synonymous variant)	Rett syndrome	GLikely benign FDA Recognized database
Select item 95193	NM_001110792.2(MECP2):c.1409G>A (p.Arg470His)	MECP2 (R458H +3 more)	Single nucleotide variant (missense variant)	Rett syndrome +6 more	GBenign/Likely benign
Select item 95192	NM_001110792.2(MECP2):c.1371G>A (p.Thr457=)	MECP2	Single nucleotide variant (synonymous variant)	History of neurodevelopmental disorder +4 more	GBenign/Likely benign
Select item 95191	NM_001110792.2(MECP2):c.1366G>A (p.Ala456Thr)	MECP2 (A444T +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 143458	NM_001110792.2(MECP2):c.1351G>A (p.Ala451Thr)	MECP2 (A439T +3 more)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 95190	NM_001110792.2(MECP2):c.1351G>T (p.Ala451Ser)	MECP2 (A439S +3 more)	Single nucleotide variant (missense variant)	Rett syndrome	GBenign FDA Recognized database
Select item 143446	NM_001110792.2(MECP2):c.1270G>A (p.Val424Ile)	MECP2 (V412I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 95189	NM_001110792.2(MECP2):c.1269C>T (p.Ser423=)	MECP2	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
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 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 95188	NM_001110792.2(MECP2):c.1233C>T (p.Pro411=)	MECP2	Single nucleotide variant (synonymous variant)	not provided +4 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 197245	NM_001110792.2(MECP2):c.1202dup (p.Pro402fs)	MECP2 (P297fs +3 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 197244	NM_001110792.2(MECP2):c.1200A>C (p.Pro400=)	MECP2	Single nucleotide variant (synonymous variant)	Rett syndrome	GBenign FDA Recognized database
Select item 143393	NM_001110792.2(MECP2):c.1198C>T (p.Pro400Ser)	MECP2 (P388S +3 more)	Single nucleotide variant (missense variant)	Rett syndrome	GBenign FDA Recognized database
Select item 95186	NM_001110792.2(MECP2):c.1197C>T (p.Pro399=)	MECP2	Single nucleotide variant (synonymous variant)	Rett syndrome +4 more	GBenign
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 95185	NM_001110792.2(MECP2):c.1173C>T (p.Pro391=)	MECP2	Single nucleotide variant (synonymous variant)	Rett syndrome +4 more	GBenign/Likely benign
Select item 143341	NM_001110792.2(MECP2):c.1169C>T (p.Ala390Val)	MECP2 (A378V +3 more)	Single nucleotide variant (missense variant)	Rett syndrome	GBenign FDA Recognized database
Select item 95184	NM_001110792.2(MECP2):c.1162C>T (p.Pro388Ser)	MECP2 (P388S +2 more)	Single nucleotide variant (missense variant)	Rett syndrome	GBenign FDA Recognized database
Select item 500106	NM_001110792.2(MECP2):c.1161C>T (p.Ser387=)	MECP2	Single nucleotide variant (synonymous variant)	Rett syndrome	GLikely benign FDA Recognized database
Select item 95183	NM_001110792.2(MECP2):c.1107C>T (p.Ser369=)	MECP2	Single nucleotide variant (synonymous variant)	Severe neonatal-onset encephalopathy with microcephaly +4 more	GBenign/Likely benign
Select item 158880	NM_001110792.2(MECP2):c.1096C>T (p.Arg366Cys)	MECP2 (R354C +3 more)	Single nucleotide variant (missense variant)	Rett syndrome	GBenign FDA Recognized database
Select item 138193	NM_001110792.2(MECP2):c.1071A>G (p.Lys357=)	MECP2	Single nucleotide variant (synonymous variant)	Rett syndrome +4 more	GBenign
Select item 143758	NM_001110792.2(MECP2):c.1020C>T (p.Leu340=)	MECP2	Single nucleotide variant (synonymous variant)	Rett syndrome +4 more	GBenign/Likely benign
Select item 143752	NM_001110792.2(MECP2):c.989A>C (p.Glu330Ala)	MECP2 (E318A +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 143750	NM_001110792.2(MECP2):c.978C>T (p.Ile326=)	MECP2	Single nucleotide variant (synonymous variant)	History of neurodevelopmental disorder +7 more	GBenign/Likely benign
Select item 95207	NM_001110792.2(MECP2):c.972C>T (p.Val324=)	MECP2	Single nucleotide variant (synonymous variant)	Rett syndrome	GLikely benign FDA Recognized database
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 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 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 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 95204	NM_001110792.2(MECP2):c.897C>T (p.Ala299=)	MECP2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 138191	NM_001110792.2(MECP2):c.879C>T (p.Ala293=)	MECP2	Single nucleotide variant (synonymous variant)	Rett syndrome +4 more	GBenign
Select item 95203	NM_001110792.2(MECP2):c.851C>T (p.Pro284Leu)	MECP2 (P272L +3 more)	Single nucleotide variant (missense variant)	Rett syndrome +3 more	GBenign/Likely benign
Select item 11815	NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter)	MECP2 (R270* +3 more)	Single nucleotide variant (nonsense)	Autism, susceptibility to, X-linked 3 +8 more	GPathogenic
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 95201	NM_001110792.2(MECP2):c.813C>T (p.Ala271=)	MECP2	Single nucleotide variant (synonymous variant)	Severe neonatal-onset encephalopathy with microcephaly +3 more	GBenign/Likely benign
Select item 11829	NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter)	MECP2 (R255* +3 more)	Single nucleotide variant (nonsense)	Autism, susceptibility to, X-linked 3 +9 more	GPathogenic/Likely pathogenic
Select item 143687	NM_001110792.2(MECP2):c.789del (p.Gly264fs)	MECP2 (G252fs +3 more)	Deletion (frameshift variant)	MECP2-related disorder +4 more	GPathogenic
Select item 95200	NM_001110792.2(MECP2):c.766C>T (p.Gln256Ter)	MECP2 (Q244* +3 more)	Single nucleotide variant (nonsense)	Severe neonatal-onset encephalopathy with microcephaly +2 more	GPathogenic
Select item 156670	NM_001110792.2(MECP2):c.737C>G (p.Ala246Gly)	MECP2 (A234G +3 more)	Single nucleotide variant (missense variant)	Rett syndrome	GBenign FDA Recognized database
Select item 143661	NM_001110792.2(MECP2):c.731G>C (p.Gly244Ala)	MECP2 (G232A +3 more)	Single nucleotide variant (missense variant)	Rett syndrome +3 more	GBenign
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 143657	NM_001110792.2(MECP2):c.719C>G (p.Thr240Ser)	MECP2 (T228S +3 more)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign
Select item 143650	NM_001110792.2(MECP2):c.696C>T (p.Leu232=)	MECP2	Single nucleotide variant (synonymous variant +1 more)	Rett syndrome +3 more	GBenign/Likely benign
Select item 290402	NM_001110792.2(MECP2):c.656T>C (p.Val219Ala)	MECP2 (V207A +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 95199	NM_001110792.2(MECP2):c.647C>G (p.Ser216Ter)	MECP2 (S204* +2 more)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases +2 more	GPathogenic
Select item 95198	NM_001110792.2(MECP2):c.644C>T (p.Thr215Met)	MECP2 (T203M +2 more)	Single nucleotide variant (missense variant +1 more)	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)	Inborn genetic diseases +5 more	GBenign/Likely benign
Select item 143627	NM_001110792.2(MECP2):c.623C>G (p.Thr208Ser)	MECP2 (T196S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +7 more	GBenign/Likely benign
Select item 95197	NM_001110792.2(MECP2):c.618C>T (p.Ser206=)	MECP2	Single nucleotide variant (synonymous variant +1 more)	Rett syndrome +4 more	GBenign/Likely benign
Select item 143612	NM_001110792.2(MECP2):c.564C>G (p.Pro188=)	MECP2	Single nucleotide variant (synonymous variant +1 more)	Rett syndrome	GLikely benign FDA Recognized database
Select item 197246	NM_001110792.2(MECP2):c.563C>A (p.Pro188His)	MECP2 (P176H +2 more)	Single nucleotide variant (missense variant +1 more)	Rett syndrome	GLikely benign FDA Recognized database
Select item 11828	NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter)	MECP2 (R168* +2 more)	Single nucleotide variant (nonsense +1 more)	Syndromic X-linked intellectual disability Lubs type +7 more	GPathogenic
Select item 498088	NM_001110792.2(MECP2):c.523G>T (p.Gly175Trp)	MECP2 (G163W +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 11811	NM_001110792.2(MECP2):c.509C>T (p.Thr170Met)	MECP2 (T158M +2 more)	Single nucleotide variant (missense variant +1 more)	Severe neonatal-onset encephalopathy with microcephaly +9 more	GPathogenic/Likely pathogenic
Select item 95196	NM_001110792.2(MECP2):c.504C>G (p.Asp168Glu)	MECP2 (D156E +2 more)	Single nucleotide variant (missense variant +1 more)	Rett syndrome +2 more	GPathogenic
Select item 143574	NM_001110792.2(MECP2):c.474C>T (p.Gly158=)	MECP2	Single nucleotide variant (synonymous variant +1 more)	Rett syndrome	GLikely benign FDA Recognized database
Select item 95195	NM_001110792.2(MECP2):c.462C>T (p.Phe154=)	MECP2	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 11833	NM_001110792.2(MECP2):c.459C>G (p.Tyr153Ter)	MECP2 (Y141* +2 more)	Single nucleotide variant (nonsense +1 more)	Rett syndrome +3 more	GPathogenic
Select item 11823	NM_001110792.2(MECP2):c.455C>T (p.Ala152Val)	MECP2 (A140V +2 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder +15 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
Select item 498407	NM_001110792.2(MECP2):c.417C>G (p.Pro139=)	MECP2	Single nucleotide variant (synonymous variant +1 more)	Severe neonatal-onset encephalopathy with microcephaly +1 more	GLikely benign
Select item 499183	NM_001110792.2(MECP2):c.414-4del	MECP2	Deletion (intron variant)	not provided	GUncertain significance
Select item 499186	NM_001110792.2(MECP2):c.414-10G>T	MECP2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 156063	NM_001110792.2(MECP2):c.414-17del	MECP2	Deletion (intron variant)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 95194	NM_001110792.2(MECP2):c.411C>A (p.Ile137=)	MECP2	Single nucleotide variant (synonymous variant +1 more)	Rett syndrome	GBenign FDA Recognized database
Select item 11814	NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp)	MECP2 (R106W +2 more)	Single nucleotide variant (missense variant +1 more)	Autism, susceptibility to, X-linked 3 +8 more	GPathogenic/Likely pathogenic
Select item 196402	NM_001110792.2(MECP2):c.287G>A (p.Arg96Gln)	MECP2 (R84Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 138186	NM_001110792.2(MECP2):c.246C>T (p.Ser82=)	MECP2	Single nucleotide variant (synonymous variant +1 more)	History of neurodevelopmental disorder +6 more	GBenign/Likely benign
Select item 95206	NM_001110792.2(MECP2):c.126G>A (p.Lys42=)	MECP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 196403	NM_001110792.2(MECP2):c.90C>G (p.Leu30=)	MECP2	Single nucleotide variant (synonymous variant +1 more)	Rett syndrome	GBenign FDA Recognized database
Select item 158882	NM_001110792.2(MECP2):c.33AGG[6] (p.Gly16dup)	MECP2	Microsatellite (5 prime UTR variant +1 more)	Rett syndrome	GBenign FDA Recognized database
Select item 93556	NM_001110792.2(MECP2):c.6CGC[7] (p.Ala8dup)	LOC130068854, MECP2	Microsatellite (5 prime UTR variant +1 more)	Rett syndrome	GBenign FDA Recognized database
Select item 193163	NM_001110792.2(MECP2):c.6CGC[3] (p.Ala6_Ala8del)	LOC130068854, MECP2	Microsatellite (inframe_deletion +1 more)	Rett syndrome	GBenign FDA Recognized database

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Items: 83