"Fulgent Genetics, Fulgent Genetics"[submitter] AND "MECP2"[gene] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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

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Items: 22