"PreventionGenetics, part of Exact Sciences"[submitter] AND "LOC130068 - ClinVar - NCBI

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

Display options Sort by Location Download

Format

Tabular
Tabular (text)
UI List

Sort by

Location
Relevance
Gene
Variation

Choose Destination

File

Search results

Items: 4

	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 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)	Severe neonatal-onset encephalopathy with microcephaly +7 more	GBenign/Likely benign
Select item 193163	NM_001110792.2(MECP2):c.6CGC[3] (p.Ala6_Ala8del)	LOC130068854, MECP2	Microsatellite (inframe_deletion +1 more)	Rett syndrome	GBenign FDA Recognized database

Display options Sort by Location Download

Format

Tabular
Tabular (text)
UI List

Sort by

Location
Relevance
Gene
Variation

Choose Destination

File