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Links from MedGen

Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GNB1
(L95P)
Single nucleotide variant
(5 prime UTR variant +1 more)
Microcephaly
+2 more
GPathogenic/Likely pathogenic
GNB1
(I80N)
Single nucleotide variant
(5 prime UTR variant +1 more)
Acute lymphoid leukemia
+2 more
GPathogenic
GNB1
(D76E)
Single nucleotide variant
(5 prime UTR variant +1 more)
Neurodevelopmental Disability
+7 more
GPathogenic/Likely pathogenic
GNB1
(I80T)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
+7 more
GPathogenic/Likely pathogenic
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