ClinVar Miner

List of variants reported as uncertain significance for atypical Rett syndrome by Institute of Human Genetics, University of Leipzig Medical Center

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: 6

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HGVS	dbSNP	gnomAD frequency
NM_001323289.2(CDKL5):c.2318A>G (p.Glu773Gly)	rs1218990219	0.00001
NM_001110792.2(MECP2):c.1244dup (p.Pro415_Glu416insTer)	rs781843758
NM_001110792.2(MECP2):c.1328A>C (p.Lys443Thr)	rs2065906320
NM_001110792.2(MECP2):c.1351_1359dup (p.Ala451_Ala453dup)	rs2065905269
NM_001323289.2(CDKL5):c.2213_2215del (p.Ser738del)	rs1926618813
NM_005249.5(FOXG1):c.1256C>T (p.Pro419Leu)	rs1555321437

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