"Ambry Genetics"[submitter] AND "LOC130068854"[gene] - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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
Select item 189762	NM_001110792.2(MECP2):c.6CGC[9] (p.Ala6_Ala8dup)	LOC130068854, MECP2	Microsatellite (inframe_insertion +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 93556	NM_001110792.2(MECP2):c.6CGC[7] (p.Ala8dup)	LOC130068854, MECP2	Microsatellite (5 prime UTR variant +1 more)	Rett syndrome	GBenign FDA Recognized database
Select item 588643	NM_001110792.2(MECP2):c.6CGC[5] (p.Ala8del)	LOC130068854, MECP2 (A8del)	Microsatellite (inframe_deletion +1 more)	X-linked intellectual disability-psychosis-macroorchidism syndrome +7 more	GBenign/Likely benign
Select item 1768926	NM_001110792.2(MECP2):c.9C>T (p.Ala3=)	LOC130068854, MECP2	Single nucleotide variant (synonymous variant +1 more)	Severe neonatal-onset encephalopathy with microcephaly +2 more	GConflicting classifications of pathogenicity

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