ClinVar for MedGen (Select 337496) - ClinVar

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Items: 62

	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 2580294	GRCh37/hg19 Xq28(chrX:153217915-153618382)x2	EMD, FLNA +9 more	Copy number gain	Syndromic X-linked intellectual disability Lubs type	GPathogenic
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 2497748	GRCh37/hg19 Xq27.1-28(chrX:139586015-154774957)	ABCD1, AFF2 +140 more	Copy number gain	Syndromic X-linked intellectual disability Lubs type	GPathogenic
Select item 2429592	NM_001110792.2(MECP2):c.1174_1178del (p.Val392fs)	MECP2 (V157fs +3 more)	Deletion (frameshift variant)	Syndromic X-linked intellectual disability Lubs type +1 more	GPathogenic/Likely pathogenic
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 1703536	GRCh37/hg19 Xq28(chrX:152372767-155233731)	CLIC2, CMC4 +68 more	Copy number gain	Chromosome Xq28 duplication syndrome +1 more	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 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 1342311	Single allele	ABCD1, AFF2 +337 more	Duplication	Syndromic X-linked intellectual disability Lubs type	GPathogenic
Select item 1339871	NM_001110792.2(MECP2):c.413+5G>A	MECP2	Single nucleotide variant (intron variant)	Severe neonatal-onset encephalopathy with microcephaly	GUncertain significance
Select item 1077181	Single allele	ARHGAP4, AVPR2 +10 more	Duplication	Syndromic X-linked intellectual disability Lubs type	GPathogenic
Select item 974845	NM_001110792.2(MECP2):c.1440dup (p.Pro481fs)	MECP2 (P376fs +2 more)	Duplication (frameshift variant)	Severe neonatal-onset encephalopathy with microcephaly +1 more	GPathogenic/Likely pathogenic
Select item 834679	NM_001110792.2(MECP2):c.1496G>C (p.Ter499Ser)	MECP2	Single nucleotide variant (stop lost)	Syndromic X-linked intellectual disability Lubs type +1 more	GLikely pathogenic
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 626291	Single allele	PAGE2B, PAGE3 +733 more	Duplication	Syndromic X-linked intellectual disability Lubs type	GPathogenic
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 625653	GRCh37/hg19 Xq28(chrX:153174571-153609996)	ARHGAP4, EMD +12 more	Copy number gain	Syndromic X-linked intellectual disability Lubs type	GPathogenic
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 +7 more	GBenign/Likely benign
Select item 560187	NM_004992.3(MECP2):c.[1155_1200del;987_988del]	MECP2 (L293fs +6 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 242862	Single allele	MECP2	Duplication	Syndromic X-linked intellectual disability Lubs type	GPathogenic
Select item 242861	Single allele	MECP2	Duplication	Syndromic X-linked intellectual disability Lubs type	GPathogenic
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 189648	NM_001110792.2(MECP2):c.1137_1237del (p.His379fs)	MECP2 (H379fs +2 more)	Deletion (frameshift variant)	X-linked intellectual disability-psychosis-macroorchidism syndrome +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 156668	NM_001110792.2(MECP2):c.641C>T (p.Ala214Val)	MECP2 (A202V +2 more)	Single nucleotide variant (missense variant +1 more)	Severe neonatal-onset encephalopathy with microcephaly +6 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 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 specified +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 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 143627	NM_001110792.2(MECP2):c.623C>G (p.Thr208Ser)	MECP2 (T196S +2 more)	Single nucleotide variant (missense variant +1 more)	MECP2-related disorder +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 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)	X-linked intellectual disability-psychosis-macroorchidism syndrome +3 more	GConflicting classifications of pathogenicity
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 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 143360	NM_001110792.2(MECP2):c.1191_1236del (p.Leu398fs)	MECP2 (L293fs +2 more)	Deletion (frameshift variant)	not provided +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 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 +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)	MECP2-related disorder +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 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 11838	GRCh38/hg38 Xq28(chrX:153905292-154361918)	LOC130068841, LOC130068842 +45 more	Copy number gain	Syndromic X-linked intellectual disability Lubs type	GPathogenic
Select item 11829	NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter)	MECP2 (R255* +3 more)	Single nucleotide variant (nonsense)	Rett syndrome +9 more	GPathogenic/Likely pathogenic
Select item 11828	NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter)	MECP2 (R168* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided +8 more	GPathogenic
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)	Rett syndrome +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)	Autism, susceptibility to, X-linked 3 +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)	Inborn genetic diseases +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)	X-linked intellectual disability-psychosis-macroorchidism syndrome +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: 62