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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GNB1
(I80T)
Single nucleotide variant
(5 prime UTR variant +1 more)
Intellectual disability
+7 more
GPathogenic/Likely pathogenic
KCNH1
(R357Q +1 more)
Single nucleotide variant
(missense variant)
Zimmermann-Laband syndrome 1
+4 more
GPathogenic/Likely pathogenic
XPO1
(E651V)
Single nucleotide variant
(missense variant +1 more)
Seizure
GUncertain significance
TACC1
(E112K +11 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
TACC1
(R262Q +19 more)
Single nucleotide variant
(missense variant +1 more)
Seizure
+1 more
GUncertain significance
DYNC1H1
(R2332C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+7 more
GPathogenic/Likely pathogenic
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