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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NEB, RIF1
Single nucleotide variant
(synonymous variant)
Arthrogryposis multiplex congenita 6
+3 more
GPathogenic/Likely pathogenic
RIF1, NEB
(T8080fs +1 more)
Duplication
(frameshift variant +1 more)
Nemaline myopathy 2
GPathogenic
NEB, RIF1
(R8032* +1 more)
Single nucleotide variant
(nonsense +1 more)
Nemaline myopathy 2
+7 more
GPathogenic/Likely pathogenic
LOC126806373, NEB
Single nucleotide variant
(splice donor variant)
Nemaline myopathy 2
+1 more
GLikely pathogenic
NEB
Single nucleotide variant
(splice donor variant)
Nemaline myopathy 2
GPathogenic
NEB
(S3028F +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
NEB
Single nucleotide variant
(splice donor variant)
Nemaline myopathy 2
GPathogenic
NEB
Single nucleotide variant
(splice acceptor variant)
Nemaline myopathy 2
GLikely pathogenic
NEB
(Q313*)
Single nucleotide variant
(nonsense)
Nemaline myopathy 2
GPathogenic
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