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Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RAPSN
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GConflicting classifications of pathogenicity
RAPSN
Single nucleotide variant
(synonymous variant +1 more)
Fetal akinesia deformation sequence 1
+2 more
GConflicting classifications of pathogenicity
RAPSN
Single nucleotide variant
(synonymous variant +1 more)
Congenital myasthenic syndrome 11
+2 more
GConflicting classifications of pathogenicity
RAPSN
(L283P)
Single nucleotide variant
(missense variant +1 more)
not provided
+5 more
GConflicting classifications of pathogenicity
RAPSN
(A246V)
Single nucleotide variant
(missense variant)
Fetal akinesia deformation sequence 2
+3 more
GPathogenic/Likely pathogenic
RAPSN
Deletion
(intron variant)
Congenital Myasthenic Syndrome, Recessive
+5 more
GBenign
RAPSN
Single nucleotide variant
(synonymous variant)
Fetal akinesia deformation sequence 1
+2 more
GConflicting classifications of pathogenicity
RAPSN
Single nucleotide variant
(synonymous variant)
Fetal akinesia deformation sequence 1
+3 more
GConflicting classifications of pathogenicity
RAPSN
(R91L)
Single nucleotide variant
(missense variant)
Fetal akinesia deformation sequence 1
+4 more
GConflicting classifications of pathogenicity
RAPSN
(N88K)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome
+7 more
GPathogenic/Likely pathogenic
RAPSN
(Q69R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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