C0796222[trait identifier] AND "Center for Genomics, Ann and Robert H. - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 95193	NM_001110792.2(MECP2):c.1409G>A (p.Arg470His)	MECP2 (R458H +3 more)	Single nucleotide variant (missense variant)	not specified +7 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 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 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 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 95202	NM_001110792.2(MECP2):c.842del (p.Gly281fs)	MECP2 (G176fs +3 more)	Deletion (frameshift variant)	Rett syndrome	GPathogenic FDA Recognized database
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 156668	NM_001110792.2(MECP2):c.641C>T (p.Ala214Val)	MECP2 (A202V +2 more)	Single nucleotide variant (missense variant +1 more)	MECP2-related condition +6 more	GBenign/Likely benign
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 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 156068	NM_001110792.2(MECP2):c.414-3C>G	MECP2	Single nucleotide variant (intron variant)	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 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