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Items: 13

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SCN1A-AS1, SCN9A
(R1150W)
Single nucleotide variant
(no sequence alteration +1 more)
Neuropathy, hereditary sensory and autonomic, type 2A
+2 more
GBenign
SCN1A-AS1, SCN9A
(L858H +1 more)
Single nucleotide variant
(missense variant)
Generalized epilepsy with febrile seizures plus, type 7
+1 more
GPathogenic
SCN1A-AS1, SCN9A
(I848T +1 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+3 more
GPathogenic
SCN1A-AS1, SCN9A
(P610T)
Single nucleotide variant
(missense variant)
Inherited Erythromelalgia
+7 more
GBenign/Likely benign
SCN9A, SCN1A-AS1
(V400M)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+2 more
GPathogenic
SCN9A
(I234T)
Single nucleotide variant
(missense variant)
Generalized epilepsy with febrile seizures plus, type 7
+1 more
GPathogenic
SCN9A
(L201V)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+1 more
GUncertain significance
KIF1A
(S1656fs +15 more)
Duplication
(frameshift variant)
Neuropathy, hereditary sensory, type 2C
+1 more
GPathogenic
KIF1A
(L947fs +3 more)
Deletion
(frameshift variant +1 more)
KIF1A-related condition
+3 more
GPathogenic
WNK1
(E899fs +1 more)
Deletion
(frameshift variant +1 more)
Pseudohypoaldosteronism type 2C
+1 more
GPathogenic
WNK1
(S1008fs +1 more)
Duplication
(frameshift variant +1 more)
Neuropathy, hereditary sensory and autonomic, type 2A
+1 more
GPathogenic
WNK1
(Q1101* +1 more)
Single nucleotide variant
(nonsense +1 more)
Inborn genetic diseases
GPathogenic
WNK1
(D1080* +1 more)
Duplication
(nonsense +1 more)
Inborn genetic diseases
GPathogenic
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