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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SCN1A-AS1, SCN9A
(I1917T)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
SCN1A-AS1, SCN9A
(Q875E +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Primary erythromelalgia
GLikely pathogenic
SCN1A-AS1, SCN9A
(L823R +1 more)
Single nucleotide variant
(missense variant)
Primary erythromelalgia
GLikely pathogenic
SCN1A-AS1, SCN9A
(V810M +1 more)
Single nucleotide variant
(missense variant)
Generalized epilepsy with febrile seizures plus, type 7
+7 more
GConflicting classifications of pathogenicity
SCN1A-AS1, SCN9A
(T773S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+7 more
GConflicting classifications of pathogenicity
SCN1A-AS1, SCN9A
(I720K +1 more)
Single nucleotide variant
(missense variant)
Primary erythromelalgia
+8 more
GConflicting classifications of pathogenicity
SCN1A-AS1, SCN9A
(E519K)
Single nucleotide variant
(missense variant)
Paroxysmal extreme pain disorder
+7 more
GConflicting classifications of pathogenicity
SCN1A-AS1, SCN9A
(L427S)
Single nucleotide variant
(missense variant)
Primary erythromelalgia
+7 more
GUncertain significance
SCN9A
(K301*)
Single nucleotide variant
(nonsense)
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
+1 more
GLikely pathogenic
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