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Links from MedGen

Items: 1 to 100 of 9982

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NEB
Single nucleotide variant
(intron variant)
Nemaline myopathy 2
GLikely pathogenic
NEB
(E2188*)
Single nucleotide variant
(nonsense)
Nemaline myopathy 2
GLikely pathogenic
NEB, RIF1
Single nucleotide variant
(intron variant)
Nemaline myopathy 2
GUncertain significance
NEB
(M3447V +1 more)
Single nucleotide variant
(missense variant)
Nemaline myopathy 2
GUncertain significance
NEB, RIF1
(T8111fs +1 more)
Duplication
(frameshift variant +1 more)
Nemaline myopathy 2
GUncertain significance
NEB
Single nucleotide variant
(synonymous variant)
Nemaline myopathy 2
GLikely benign
NEB
Single nucleotide variant
(synonymous variant)
Nemaline myopathy 2
GLikely benign
NEB
Single nucleotide variant
(intron variant)
Nemaline myopathy 2
GLikely benign
NEB
Single nucleotide variant
(intron variant)
Nemaline myopathy 2
GLikely benign
NEB, RIF1
Single nucleotide variant
(intron variant)
Nemaline myopathy 2
GLikely benign
NEB
Microsatellite
(intron variant)
Nemaline myopathy 2
GLikely benign
NEB
Single nucleotide variant
(synonymous variant +1 more)
Nemaline myopathy 2
GLikely benign
NEB
Single nucleotide variant
(intron variant)
Nemaline myopathy 2
GLikely benign
NEB
(S755C)
Single nucleotide variant
(missense variant)
Nemaline myopathy 2
GLikely benign
NEB
Single nucleotide variant
(synonymous variant)
Nemaline myopathy 2
GLikely benign
RIF1, NEB
Single nucleotide variant
(intron variant)
Nemaline myopathy 2
GLikely benign
NEB
Single nucleotide variant
(synonymous variant)
Nemaline myopathy 2
GLikely benign
NEB
Single nucleotide variant
(intron variant)
Nemaline myopathy 2
GLikely benign
NEB
Single nucleotide variant
(synonymous variant)
Nemaline myopathy 2
GLikely benign
NEB, RIF1
(Q8093R +1 more)
Single nucleotide variant
(missense variant +1 more)
Nemaline myopathy 2
GLikely benign
NEB
Single nucleotide variant
(intron variant)
Nemaline myopathy 2
GLikely benign
NEB
Single nucleotide variant
(intron variant)
Nemaline myopathy 2
GLikely benign
NEB, RIF1
(Y7217H +2 more)
Single nucleotide variant
(missense variant)
Nemaline myopathy 2
GLikely benign
NEB
Single nucleotide variant
(intron variant)
Nemaline myopathy 2
GLikely benign
NEB
Deletion
(intron variant)
Nemaline myopathy 2
GBenign
NEB, RIF1
Single nucleotide variant
(synonymous variant)
Nemaline myopathy 2
GLikely benign
NEB, RIF1
Single nucleotide variant
(intron variant)
Nemaline myopathy 2
GLikely benign
NEB
Single nucleotide variant
(synonymous variant)
Nemaline myopathy 2
GLikely benign
NEB, RIF1
Single nucleotide variant
(intron variant)
Nemaline myopathy 2
GLikely benign
NEB, RIF1
(E6103K +2 more)
Single nucleotide variant
(missense variant)
Nemaline myopathy 2
GLikely benign
NEB
Single nucleotide variant
(intron variant)
Nemaline myopathy 2
GLikely benign
NEB
Single nucleotide variant
(synonymous variant)
Nemaline myopathy 2
GLikely benign
NEB
Single nucleotide variant
(intron variant)
Nemaline myopathy 2
GLikely benign
NEB
Single nucleotide variant
(intron variant)
Nemaline myopathy 2
GLikely benign
NEB
Single nucleotide variant
(synonymous variant)
Nemaline myopathy 2
GLikely benign
NEB
Microsatellite
(intron variant)
Nemaline myopathy 2
GLikely benign
NEB
Single nucleotide variant
(synonymous variant +1 more)
Nemaline myopathy 2
GLikely benign
NEB
Single nucleotide variant
(intron variant)
Nemaline myopathy 2
GLikely benign
RIF1, NEB
(E5716Q +2 more)
Single nucleotide variant
(missense variant)
Nemaline myopathy 2
GLikely benign
NEB
Single nucleotide variant
(synonymous variant)
Nemaline myopathy 2
GLikely benign
NEB
Single nucleotide variant
(synonymous variant)
Nemaline myopathy 2
GLikely benign
NEB
Single nucleotide variant
(synonymous variant)
Nemaline myopathy 2
GLikely benign
NEB
(L1522F)
Single nucleotide variant
(missense variant)
Nemaline myopathy 2
GLikely benign
NEB
Single nucleotide variant
(synonymous variant)
Nemaline myopathy 2
GLikely benign
NEB
(A751V)
Single nucleotide variant
(missense variant)
Nemaline myopathy 2
GLikely benign
NEB
Single nucleotide variant
(intron variant)
Nemaline myopathy 2
GLikely benign
NEB
(E5680K +1 more)
Single nucleotide variant
(missense variant)
Nemaline myopathy 2
GUncertain significance
NEB
Single nucleotide variant
(intron variant)
Nemaline myopathy 2
GLikely benign
NEB
Single nucleotide variant
(synonymous variant)
Nemaline myopathy 2
GLikely benign
NEB
Single nucleotide variant
(intron variant)
Nemaline myopathy 2
GLikely benign
NEB
Single nucleotide variant
(intron variant)
Nemaline myopathy 2
GLikely benign
NEB
Single nucleotide variant
(intron variant)
Nemaline myopathy 2
GLikely benign
NEB
Single nucleotide variant
(synonymous variant)
Nemaline myopathy 2
GLikely benign
NEB
Single nucleotide variant
(intron variant)
Nemaline myopathy 2
GLikely benign
NEB
Single nucleotide variant
(intron variant)
Nemaline myopathy 2
GLikely benign
NEB
Single nucleotide variant
(intron variant +1 more)
Nemaline myopathy 2
GLikely pathogenic
NEB
Single nucleotide variant
(synonymous variant)
Nemaline myopathy 2
GLikely benign
NEB
Single nucleotide variant
(intron variant)
Nemaline myopathy 2
GLikely benign
NEB
(P4862T +1 more)
Single nucleotide variant
(missense variant)
Nemaline myopathy 2
GLikely benign
NEB
Single nucleotide variant
(intron variant)
Nemaline myopathy 2
GLikely benign
NEB
Single nucleotide variant
(intron variant)
Nemaline myopathy 2
GLikely benign
NEB
Single nucleotide variant
(intron variant)
Nemaline myopathy 2
GLikely benign
NEB, RIF1
(G7687D +2 more)
Single nucleotide variant
(missense variant)
Nemaline myopathy 2
GLikely benign
NEB
Single nucleotide variant
(synonymous variant)
Nemaline myopathy 2
GLikely benign
NEB
(Y4680C +1 more)
Single nucleotide variant
(missense variant)
Nemaline myopathy 2
GLikely benign
NEB, RIF1
Single nucleotide variant
(intron variant)
Nemaline myopathy 2
GLikely benign
NEB
Single nucleotide variant
(intron variant)
Nemaline myopathy 2
GLikely benign
NEB
Single nucleotide variant
(intron variant)
Nemaline myopathy 2
GLikely benign
NEB
Single nucleotide variant
(intron variant)
Nemaline myopathy 2
GLikely benign
NEB
Single nucleotide variant
(synonymous variant)
Nemaline myopathy 2
GLikely benign
NEB, RIF1
Single nucleotide variant
(intron variant)
Nemaline myopathy 2
GLikely benign
NEB
Single nucleotide variant
(intron variant)
Nemaline myopathy 2
GLikely benign
NEB
Single nucleotide variant
(synonymous variant)
Nemaline myopathy 2
GLikely benign
NEB, RIF1
Single nucleotide variant
(splice acceptor variant)
Nemaline myopathy 2
GLikely pathogenic
NEB
Single nucleotide variant
(synonymous variant)
Nemaline myopathy 2
GLikely benign
NEB
Single nucleotide variant
(intron variant)
Nemaline myopathy 2
GLikely benign
NEB, RIF1
Single nucleotide variant
(intron variant)
Nemaline myopathy 2
GLikely benign
LOC126806373, NEB
Single nucleotide variant
(synonymous variant)
Nemaline myopathy 2
GLikely benign
NEB
Single nucleotide variant
(intron variant)
Nemaline myopathy 2
GLikely benign
NEB
Single nucleotide variant
(intron variant)
Nemaline myopathy 2
GLikely benign
NEB
Single nucleotide variant
(intron variant)
Nemaline myopathy 2
GLikely benign
NEB
Single nucleotide variant
(intron variant)
Nemaline myopathy 2
GLikely benign
NEB
Single nucleotide variant
(intron variant)
Nemaline myopathy 2
GLikely benign
NEB, RIF1
Single nucleotide variant
(synonymous variant)
Nemaline myopathy 2
GLikely benign
NEB, RIF1
Deletion
(intron variant)
Nemaline myopathy 2
GLikely benign
NEB
Single nucleotide variant
(synonymous variant)
Nemaline myopathy 2
GBenign
NEB
Single nucleotide variant
(intron variant)
Nemaline myopathy 2
GLikely benign
NEB
Single nucleotide variant
(synonymous variant)
Nemaline myopathy 2
GLikely benign
NEB
Single nucleotide variant
(intron variant)
Nemaline myopathy 2
GLikely benign
NEB
Single nucleotide variant
(synonymous variant)
Nemaline myopathy 2
GLikely benign
NEB
Deletion
(intron variant)
Nemaline myopathy 2
GLikely benign
NEB
Single nucleotide variant
(intron variant)
Nemaline myopathy 2
GLikely benign
NEB
Single nucleotide variant
(intron variant)
Nemaline myopathy 2
GLikely benign
NEB
Single nucleotide variant
(intron variant)
Nemaline myopathy 2
GLikely benign
NEB, RIF1
Single nucleotide variant
(intron variant)
Nemaline myopathy 2
GLikely benign
NEB, RIF1
Single nucleotide variant
(intron variant)
Nemaline myopathy 2
GLikely benign
NEB
Single nucleotide variant
(synonymous variant)
Nemaline myopathy 2
GLikely benign
NEB, RIF1
Single nucleotide variant
(synonymous variant)
Nemaline myopathy 2
GLikely benign
NEB
Single nucleotide variant
(synonymous variant)
Nemaline myopathy 2
GLikely benign
NEB, RIF1
Single nucleotide variant
(intron variant)
Nemaline myopathy 2
GLikely benign
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