ClinVar Miner

List of variants reported as uncertain significance for atypical Rett syndrome by Molecular Diagnostics Lab, Nemours Children's Health, Delaware

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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Minimum conflict level: Report conflict between different conditions
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.554C>G (p.Pro185Arg)	rs267608492	0.00001
NM_001110792.2(MECP2):c.1134CCA[2] (p.His384del)	rs61752381
NM_001110792.2(MECP2):c.1184T>C (p.Leu395Pro)	rs1060499622
NM_001110792.2(MECP2):c.1191_1244del (p.Leu398_Pro415del)	rs1557135259
NM_001110792.2(MECP2):c.1192_1233del (p.Leu398_Pro411del)	rs267608579

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