"Molecular Genetics Laboratory, Children's Mercy Hospital and Clinics" - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 192292	NM_001110792.2(MECP2):c.1182_*452del (p.Leu394_Ter499delinsXaa)	MECP2	Deletion (stop lost)	Rett syndrome	GPathogenic
Select item 192290	NM_001110792.2(MECP2):c.1199_1319delinsAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCA (p.Pro400_Gly440delinsGlnTer)	MECP2	Indel (nonsense)	Rett syndrome	GPathogenic
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 143405	NM_001110792.2(MECP2):c.1200_1242del (p.Pro401fs)	MECP2 (P389fs +3 more)	Deletion (frameshift variant)	Rett syndrome	GPathogenic
Select item 143372	NM_001110792.2(MECP2):c.1193_1236del (p.Leu398fs)	MECP2 (L398fs +2 more)	Deletion (frameshift variant)	not provided +3 more	GPathogenic
Select item 156632	NM_001110792.2(MECP2):c.1198C>G (p.Pro400Ala)	MECP2 (P388A +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 95186	NM_001110792.2(MECP2):c.1197C>T (p.Pro399=)	MECP2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GBenign
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 143706	NM_001110792.2(MECP2):c.855G>T (p.Gly285=)	MECP2	Single nucleotide variant (synonymous variant)	Severe neonatal-onset encephalopathy with microcephaly +4 more	GBenign
Select item 11815	NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter)	MECP2 (R270* +3 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases +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 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 192293	NM_001110792.2(MECP2):c.685C>T (p.Pro229Ser)	MECP2 (P217S +2 more)	Single nucleotide variant (missense variant +1 more)	Rett syndrome +1 more	GUncertain significance
Select item 11811	NM_001110792.2(MECP2):c.509C>T (p.Thr170Met)	MECP2 (T158M +2 more)	Single nucleotide variant (missense variant +1 more)	Rett syndrome +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)	not provided +2 more	GPathogenic
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 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 192294	NM_001110792.2(MECP2):c.426del (p.Ala143fs)	MECP2 (A38fs +2 more)	Deletion (frameshift variant +1 more)	Rett syndrome	GPathogenic
Select item 192291	NM_001110792.2(MECP2):c.414-42A>G	MECP2	Single nucleotide variant (intron variant)	Rett syndrome	GLikely benign
Select item 156057	NM_001110792.2(MECP2):c.413+28A>G	MECP2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 192289	NM_004992.4(MECP2):c.1A>T (p.Met1Leu)	MECP2 (M1L)	Single nucleotide variant (5 prime UTR variant +3 more)	Rett syndrome	GPathogenic
Select item 189777	NM_001110792.2(MECP2):c.62+2_62+3del	MECP2	Microsatellite (splice donor variant)	Rett syndrome +2 more	GPathogenic/Likely pathogenic
Select item 11845	NM_001110792.2(MECP2):c.5C>T (p.Ala2Val)	LOC130068854, MECP2 (A2V)	Single nucleotide variant (missense variant +1 more)	Severe neonatal-onset encephalopathy with microcephaly +1 more	GPathogenic/Likely pathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 23