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Links from MedGen

Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SPOP
(E118K)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies
GLikely pathogenic
SPOP
(N72K)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies
GLikely pathogenic
SPOP
(Y83C)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies
GLikely pathogenic
SPOP
(R138C)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies
+1 more
GPathogenic/Likely pathogenic
SPOP
(T25A)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies
+1 more
GConflicting classifications of pathogenicity
SPOP
(G132V)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies
GLikely pathogenic
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