"Mendelics"[submitter] AND "MECP2"[gene] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 143297	NM_001110792.2(MECP2):c.*98dup	MECP2	Duplication (3 prime UTR variant)	Rett syndrome	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 specified +3 more	GBenign/Likely benign
Select item 1212000	NM_001110792.2(MECP2):c.1244C>G (p.Pro415Arg)	MECP2 (P180R +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 143372	NM_001110792.2(MECP2):c.1193_1236del (p.Leu398fs)	MECP2 (L398fs +2 more)	Deletion (frameshift variant)	not provided +3 more	GPathogenic
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 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 804123	NM_001110792.2(MECP2):c.1153_1207del (p.Ser385fs)	MECP2 (S385fs +3 more)	Deletion (frameshift variant)	Rett syndrome	GPathogenic
Select item 548031	NM_001110792.2(MECP2):c.1173dup (p.Val392fs)	MECP2 (V392fs +3 more)	Duplication (frameshift variant)	not provided +3 more	GPathogenic
Select item 143340	NM_001110792.2(MECP2):c.1169C>G (p.Ala390Gly)	MECP2 (A378G +3 more)	Single nucleotide variant (missense variant)	Rett syndrome	GUncertain significance FDA Recognized database
Select item 36489	NM_001110792.2(MECP2):c.1108G>A (p.Ala370Thr)	MECP2 (A358T +3 more)	Single nucleotide variant (missense variant)	MECP2-related disorder +5 more	GBenign/Likely benign
Select item 1684877	NM_001110792.2(MECP2):c.997A>G (p.Lys333Glu)	MECP2 (K228E +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1685939	NM_001110792.2(MECP2):c.946AAG[1] (p.Lys317del)	MECP2 (K212del +3 more)	Microsatellite (inframe_deletion)	X-linked intellectual disability-psychosis-macroorchidism syndrome	GPathogenic
Select item 143734	NM_001110792.2(MECP2):c.940C>G (p.Pro314Ala)	MECP2 (P302A +3 more)	Single nucleotide variant (missense variant)	X-linked intellectual disability-psychosis-macroorchidism syndrome +1 more	GPathogenic
Select item 1684878	NM_001110792.2(MECP2):c.803A>G (p.Lys268Arg)	MECP2 (K163R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 804124	NM_001110792.2(MECP2):c.785dup (p.Gly264fs)	MECP2 (G252fs +3 more)	Duplication (frameshift variant)	Rett syndrome	GPathogenic
Select item 1439710	NM_001110792.2(MECP2):c.724C>A (p.Pro242Thr)	MECP2 (P230T +3 more)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 1685940	NM_001110792.2(MECP2):c.642del (p.Thr215fs)	MECP2 (T110fs +2 more)	Deletion (frameshift variant +1 more)	X-linked intellectual disability-psychosis-macroorchidism syndrome	GPathogenic
Select item 138187	NM_001110792.2(MECP2):c.626C>T (p.Thr209Met)	MECP2 (T197M +2 more)	Single nucleotide variant (missense variant +1 more)	Severe neonatal-onset encephalopathy with microcephaly +6 more	GBenign/Likely benign
Select item 143627	NM_001110792.2(MECP2):c.623C>G (p.Thr208Ser)	MECP2 (T196S +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Rett syndrome +8 more	GBenign/Likely benign
Select item 1685942	NM_001110792.2(MECP2):c.618dup (p.Gly207fs)	MECP2 (G102fs +2 more)	Duplication (frameshift variant +1 more)	X-linked intellectual disability-psychosis-macroorchidism syndrome	GPathogenic
Select item 804125	NM_001110792.2(MECP2):c.553C>A (p.Pro185Thr)	MECP2 (P173T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 804126	NM_001110792.2(MECP2):c.541G>T (p.Glu181Ter)	MECP2 (E169* +2 more)	Single nucleotide variant (nonsense +1 more)	Severe neonatal-onset encephalopathy with microcephaly +1 more	GPathogenic
Select item 180209	NM_001110792.2(MECP2):c.520A>G (p.Arg174Gly)	MECP2 (R162G +2 more)	Single nucleotide variant (missense variant +1 more)	Rett syndrome	GPathogenic
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
Select item 804127	NM_001110792.2(MECP2):c.502G>T (p.Asp168Tyr)	MECP2 (D168Y +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 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 444834	NM_001110792.2(MECP2):c.487G>T (p.Asp163Tyr)	MECP2 (D151Y +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely 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)	not specified +7 more	GPathogenic/Likely pathogenic
Select item 804128	NM_001110792.2(MECP2):c.310_311dup (p.Pro105fs)	MECP2 (P105fs +1 more)	Duplication (frameshift variant +1 more)	Rett syndrome	GPathogenic
Select item 804129	NM_001110792.2(MECP2):c.62+5503del	MECP2	Deletion (intron variant)	Rett syndrome	GBenign
Select item 804130	NM_001110792.2(MECP2):c.62+5469A>T	MECP2	Single nucleotide variant (intron variant)	Rett syndrome	GLikely benign
Select item 189776	NM_001110792.2(MECP2):c.62+1G>A	MECP2	Single nucleotide variant (splice donor variant)	Rett syndrome	GPathogenic FDA Recognized database
Select item 804131	NM_001110792.2(MECP2):c.44_57dup (p.Arg20fs)	MECP2 (R20fs)	Duplication (frameshift variant +1 more)	Rett syndrome	GPathogenic
Select item 1207096	NM_001110792.2(MECP2):c.3G>A (p.Met1Ile)	LOC130068854, MECP2 (M1I)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GPathogenic

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Items: 37