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Links from MedGen

Items: 44

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GNB1
(Q32fs)
Microsatellite
(frameshift variant +1 more)
Intellectual disability, autosomal dominant 42
GLikely pathogenic
GNB1
(M61I)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, autosomal dominant 42
GLikely pathogenic
GNB1
(G219R +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 42
GUncertain significance
GNB1
(P94R)
Single nucleotide variant
(5 prime UTR variant +1 more)
Intellectual disability, autosomal dominant 42
+1 more
GConflicting classifications of pathogenicity
GNB1
(G109E +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 42
GLikely pathogenic
GNB1
(D76E)
Single nucleotide variant
(5 prime UTR variant +1 more)
Intellectual disability, autosomal dominant 42
GPathogenic
GNB1
Single nucleotide variant
(intron variant)
Intellectual disability, autosomal dominant 42
GUncertain significance
GNB1
Single nucleotide variant
(3 prime UTR variant)
Intellectual disability, autosomal dominant 42
GUncertain significance
GNB1
(L236H +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 42
GUncertain significance
GNB1
Single nucleotide variant
(synonymous variant)
Myelodysplastic syndrome
+3 more
GLikely benign
GNB1
(R52W)
Single nucleotide variant
(missense variant +1 more)
not provided
GConflicting classifications of pathogenicity
GNB1
(G77V)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GPathogenic
GNB1
(C114Y +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 42
GPathogenic
GNB1
Single nucleotide variant
(splice acceptor variant)
Intellectual disability, autosomal dominant 42
GPathogenic
GNB1
(G206fs +1 more)
Deletion
(frameshift variant)
Intellectual disability, autosomal dominant 42
GPathogenic
GNB1
(H91fs)
Deletion
(5 prime UTR variant +1 more)
Intellectual disability, autosomal dominant 42
GPathogenic
GNB1
Single nucleotide variant
(splice acceptor variant)
Intellectual disability, autosomal dominant 42
GPathogenic
GNB1
(D163N +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 42
+1 more
GConflicting classifications of pathogenicity
GNB1
(C166R +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 42
GLikely pathogenic
GNB1
(G74S +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 42
+1 more
GConflicting classifications of pathogenicity
GNB1
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
GNB1
(A60T)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, autosomal dominant 42
+1 more
GUncertain significance
GNB1
(T143A +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 42
Gnot provided
GNB1
(R96L)
Single nucleotide variant
(5 prime UTR variant +1 more)
Intellectual disability, autosomal dominant 42
GPathogenic
GNB1
(G77D)
Single nucleotide variant
(5 prime UTR variant +1 more)
Intellectual disability, autosomal dominant 42
+3 more
GPathogenic/Likely pathogenic
GNB1
(D76N)
Single nucleotide variant
(5 prime UTR variant +1 more)
Intellectual disability, autosomal dominant 42
+1 more
GPathogenic/Likely pathogenic
GNB1
(P94S)
Single nucleotide variant
(5 prime UTR variant +1 more)
Intellectual disability, autosomal dominant 42
GUncertain significance
GNB1
(D118Y +1 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
GNB1
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign/Likely benign
GNB1
(E12K)
Single nucleotide variant
(5 prime UTR variant +1 more)
Intellectual disability, autosomal dominant 42
+1 more
GConflicting classifications of pathogenicity
GNB1
(A92T)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+2 more
GPathogenic/Likely pathogenic
GNB1
(G53E)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, autosomal dominant 42
GLikely pathogenic
GNB1
(D118G +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
GNB1
(E130K +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 42
+1 more
GPathogenic/Likely pathogenic
GNB1
(G77A)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
GNB1
(I80S)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
GNB1
(A326T +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 42
GLikely pathogenic
GNB1
(M101V +1 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, autosomal dominant 42
+1 more
GPathogenic/Likely pathogenic
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
(K78R)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
+3 more
GPathogenic/Likely pathogenic
GNB1
(G77S)
Single nucleotide variant
(5 prime UTR variant +1 more)
Intellectual disability, autosomal dominant 42
+2 more
GPathogenic/Likely pathogenic
GNB1
(D76G)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GPathogenic
GNB1
(I80T)
Single nucleotide variant
(5 prime UTR variant +1 more)
Intellectual disability, autosomal dominant 42
+7 more
GPathogenic/Likely pathogenic
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