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Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GNB1
(I80T)
Single nucleotide variant
(5 prime UTR variant +1 more)
Neurodevelopmental delay
+7 more
GPathogenic/Likely pathogenic
KCND3
(R549C +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GConflicting classifications of pathogenicity
KCND3
(G371R)
Single nucleotide variant
(missense variant)
Brugada syndrome 9
+3 more
GPathogenic/Likely pathogenic
MEPCE
(R49* +1 more)
Single nucleotide variant
(nonsense)
Neurodevelopmental delay
GUncertain significance
MAGEL2
(Q666fs)
Duplication
(frameshift variant)
See cases
+5 more
GPathogenic
SMAD4
(I500V)
Single nucleotide variant
(missense variant)
Neurodevelopmental delay
+9 more
GPathogenic
HCN2
(E478del)
Deletion
(inframe_deletion)
HCN2 related developmental and epileptic encephalopathy
+2 more
GConflicting classifications of pathogenicity
CPNE1, RBM12
(K349M)
Single nucleotide variant
(missense variant +1 more)
Neurodevelopmental delay
GUncertain significance
HUWE1
(R3070C)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic/Likely pathogenic
HNRNPH2, RPL36A-HNRNPH2
(R206W)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+6 more
GPathogenic/Likely pathogenic
BCORL1
(Q1442*)
Single nucleotide variant
(nonsense +1 more)
Neurodevelopmental delay
GPathogenic
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