ClinVar Miner

List of variants reported as likely pathogenic for encephalomalacia

Included ClinVar conditions (5):

Cleft upper lip; Cognitive impairment; Median cleft upper lip; Bifid ribs; Asymmetry of the thorax; Periventricular leukomalacia; Cleft palate
Congenital cerebellar hypoplasia; Seizure; Absent speech; Microcephaly; Periventricular leukomalacia; Severe global developmental delay
Global developmental delay; Hypoplasia of the corpus callosum; Abnormal cerebral white matter morphology; Periventricular leukomalacia; Delayed myelination; Hypotonia
Growth delay; Delayed speech and language development; Intellectual disability; Periventricular leukomalacia; Atrophy/Degeneration affecting the brainstem; Corneal opacity; Delayed myelination
Seizure; Hypospadias; Tracheomalacia; Abnormal facial shape; Delayed speech and language development; Intellectual disability, moderate; Periventricular leukomalacia; Hypotonia; Encephalomalacia

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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_012424.6(RPS6KC1):c.2710G>A (p.Gly904Ser)	rs61751035	0.00001
NM_006015.6(ARID1A):c.5090A>G (p.Asp1697Gly)	rs375761808
NM_020533.3(MCOLN1):c.378C>G (p.Tyr126Ter)	rs1057518782
NM_020533.3(MCOLN1):c.777+1G>C	rs1057518781
Single allele

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