ClinVar Miner

List of variants reported as pathogenic for atypical Rett syndrome by Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille

Included ClinVar conditions (12):

Angelman syndrome; X-linked intellectual disability-psychosis-macroorchidism syndrome; Rett syndrome
Atypical Rett syndrome
Developmental and epileptic encephalopathy, 1; Developmental and epileptic encephalopathy, 2; Angelman syndrome-like
Developmental and epileptic encephalopathy, 2
Developmental and epileptic encephalopathy, 2; Angelman syndrome-like
FOXG1 disorder
Rett syndrome
Rett syndrome, congenital variant
Severe neonatal-onset encephalopathy with microcephaly; Syndromic X-linked intellectual disability Lubs type; X-linked intellectual disability-psychosis-macroorchidism syndrome; Rett syndrome
Severe neonatal-onset encephalopathy with microcephaly; Syndromic X-linked intellectual disability Lubs type; X-linked intellectual disability-psychosis-macroorchidism syndrome; Rett syndrome; Autism, susceptibility to, X-linked 3
Syndromic X-linked intellectual disability Lubs type; Rett syndrome
X-linked intellectual disability-psychosis-macroorchidism syndrome; Rett syndrome

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_001110792.2(MECP2):c.437C>G (p.Ser146Cys)	rs61748390
NM_001110792.2(MECP2):c.726del (p.Gly244fs)	rs1064793576
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter)	rs61751362
NM_001323289.2(CDKL5):c.1648C>T (p.Arg550Ter)	rs267608643
NM_005249.5(FOXG1):c.624C>A (p.Tyr208Ter)	rs267606826

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