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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GNB1
(T143A +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 42
Gnot provided
GNB1
(D118G +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
GNB1
(D118Y +1 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
GNB1
(M101V +1 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, autosomal dominant 42
+1 more
GPathogenic/Likely pathogenic
GNB1
(R96L)
Single nucleotide variant
(5 prime UTR variant +1 more)
Intellectual disability, autosomal dominant 42
GPathogenic
GNB1
(L95P)
Single nucleotide variant
(5 prime UTR variant +1 more)
Hypotonia
+2 more
GPathogenic/Likely pathogenic
GNB1
(I80N)
Single nucleotide variant
(5 prime UTR variant +1 more)
Intellectual disability, autosomal dominant 42
+2 more
GPathogenic
GNB1
(I80T)
Single nucleotide variant
(5 prime UTR variant +1 more)
Neurodevelopmental disorder
+7 more
GPathogenic/Likely pathogenic
GNB1
(K78R)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
+3 more
GPathogenic/Likely pathogenic
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