"Molecular Diagnostics Lab, Nemours Children's Health, Delaware"[submi - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 393488	NM_001110792.2(MECP2):c.1194_*261del (p.Pro399fs)	MECP2 (P294fs +3 more)	Deletion (frameshift variant)	Rett syndrome	GPathogenic
Select item 393491	NM_001110792.2(MECP2):c.1216_1251del (p.Glu406_Pro417del)	MECP2	Deletion (inframe_deletion)	not specified +3 more	GUncertain significance
Select item 393484	NM_001110792.2(MECP2):c.1191_1244del (p.Leu398_Pro415del)	MECP2	Deletion (inframe_deletion)	Rett syndrome	GUncertain significance
Select item 143422	NM_001110792.2(MECP2):c.1216_1241del (p.Glu406fs)	MECP2 (E406fs +3 more)	Deletion (frameshift variant)	Rett syndrome	GPathogenic
Select item 143369	NM_001110792.2(MECP2):c.1193_1233del (p.Leu398fs)	MECP2 (L398fs +2 more)	Deletion (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 143363	NM_001110792.2(MECP2):c.1192_1233del (p.Leu398_Pro411del)	MECP2	Deletion (inframe_deletion)	Rett syndrome	GUncertain significance
Select item 143421	NM_001110792.2(MECP2):c.1216G>A (p.Glu406Lys)	MECP2 (E394K +3 more)	Single nucleotide variant (missense variant)	Rett syndrome	GBenign FDA Recognized database
Select item 143412	NM_001110792.2(MECP2):c.1198CCACCT[1] (p.Pro402_Pro403del)	MECP2	Microsatellite (inframe_deletion)	MECP2-related condition +4 more	GBenign/Likely benign
Select item 393490	NM_001110792.2(MECP2):c.801_1194del (p.Lys268fs)	MECP2 (K163fs +3 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 393487	NM_001110792.2(MECP2):c.1184T>C (p.Leu395Pro)	MECP2 (L383P +3 more)	Single nucleotide variant (missense variant)	Rett syndrome	GUncertain significance
Select item 393486	NM_001110792.2(MECP2):c.1130_1174del (p.Glu377_Pro391del)	MECP2	Deletion (inframe_deletion)	Rett syndrome	GLikely pathogenic
Select item 393482	NM_001110792.2(MECP2):c.1125_1165del (p.Lys376fs)	MECP2 (K271fs +3 more)	Deletion (frameshift variant)	Rett syndrome	GPathogenic
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 143331	NM_001110792.2(MECP2):c.1134CCA[2] (p.His384del)	MECP2 (H372del +3 more)	Microsatellite (inframe_deletion)	not provided +2 more	GUncertain significance
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 143307	NM_001110792.2(MECP2):c.1065del (p.Arg356fs)	MECP2 (R251fs +3 more)	Deletion (frameshift variant)	Rett syndrome	GPathogenic
Select item 393483	NM_001110792.2(MECP2):c.1060_1061insAG (p.Pro354fs)	MECP2 (P249fs +3 more)	Insertion (frameshift variant)	Rett syndrome	GPathogenic
Select item 143746	NM_001110792.2(MECP2):c.953G>A (p.Arg318His)	MECP2 (R306H +3 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder +3 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 143738	NM_001110792.2(MECP2):c.941C>T (p.Pro314Leu)	MECP2 (P302L +3 more)	Single nucleotide variant (missense variant)	Rett syndrome	GPathogenic FDA Recognized database
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 189629	NM_001110792.2(MECP2):c.868G>A (p.Ala290Thr)	MECP2 (A278T +3 more)	Single nucleotide variant (missense variant)	Severe neonatal-onset encephalopathy with microcephaly +1 more	GLikely benign
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 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 143673	NM_001110792.2(MECP2):c.772_779delinsGTG (p.Met258fs)	MECP2 (M153fs +3 more)	Indel (frameshift variant)	Rett syndrome	GPathogenic/Likely pathogenic
Select item 143666	NM_001110792.2(MECP2):c.746dup (p.Gly250fs)	MECP2 (G145fs +3 more)	Duplication (frameshift variant)	Severe neonatal-onset encephalopathy with microcephaly +2 more	GPathogenic/Likely pathogenic
Select item 393485	NM_001110792.2(MECP2):c.714del (p.Gln239fs)	MECP2 (Q227fs +3 more)	Deletion (frameshift variant)	Rett syndrome	GPathogenic
Select item 143609	NM_001110792.2(MECP2):c.554C>G (p.Pro185Arg)	MECP2 (P173R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
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 +8 more	GPathogenic
Select item 11811	NM_001110792.2(MECP2):c.509C>T (p.Thr170Met)	MECP2 (T158M +2 more)	Single nucleotide variant (missense variant +1 more)	Syndromic X-linked intellectual disability Lubs type +9 more	GPathogenic/Likely pathogenic
Select item 393489	NM_001110792.2(MECP2):c.504C>A (p.Asp168Glu)	MECP2 (D156E +2 more)	Single nucleotide variant (missense variant +1 more)	Rett syndrome	GLikely pathogenic
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 143562	NM_001110792.2(MECP2):c.437C>G (p.Ser146Cys)	MECP2 (S134C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 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 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 +7 more	GPathogenic/Likely pathogenic
Select item 393492	NM_001110792.2(MECP2):c.349A>C (p.Thr117Pro)	MECP2 (T105P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 143500	NM_001110792.2(MECP2):c.239C>G (p.Ser80Ter)	MECP2 (S68* +1 more)	Single nucleotide variant (nonsense +1 more)	Rett syndrome +1 more	GPathogenic/Likely pathogenic

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Items: 37