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Items: 57

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NEB, RIF1
(T8491M +2 more)
Single nucleotide variant
(missense variant)
NEB-related disorder
+5 more
GConflicting classifications of pathogenicity
NEB, RIF1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
NEB, RIF1
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign/Likely benign
NEB, RIF1
(R8032* +1 more)
Single nucleotide variant
(nonsense +1 more)
NEB-related disorder
+7 more
GPathogenic/Likely pathogenic
NEB, RIF1
(S7829L +2 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GBenign/Likely benign
NEB, RIF1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
NEB, RIF1
(D7409E +2 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
NEB, RIF1
(D7321N +2 more)
Single nucleotide variant
(missense variant)
Nemaline myopathy 2
+1 more
GBenign
NEB
Duplication
(intron variant)
Nemaline Myopathy, Recessive
GUncertain significance
NEB
Deletion
(intron variant)
Nemaline myopathy
+1 more
GBenign/Likely benign
NEB
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign/Likely benign
NEB
(L4999I +1 more)
Single nucleotide variant
(missense variant)
not provided
+6 more
GConflicting classifications of pathogenicity
NEB
(T6693I +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GBenign/Likely benign
NEB
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
LOC126806373, NEB
Single nucleotide variant
(synonymous variant)
Nemaline myopathy 2
+2 more
GConflicting classifications of pathogenicity
NEB
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
NEB
Single nucleotide variant
(synonymous variant)
Arthrogryposis multiplex congenita 6
+3 more
GBenign/Likely benign
NEB
(G6218D +1 more)
Single nucleotide variant
(missense variant)
Nemaline myopathy 2
+2 more
GConflicting classifications of pathogenicity
NEB
Duplication
(intron variant)
Nemaline Myopathy, Recessive
+1 more
GBenign
NEB
(I5557V)
Single nucleotide variant
(missense variant +1 more)
Arthrogryposis multiplex congenita 6
+3 more
GBenign/Likely benign
NEB
(R5546H)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
NEB
(K5515T)
Single nucleotide variant
(missense variant +1 more)
not specified
GBenign
NEB
Single nucleotide variant
(intron variant)
not specified
GBenign
NEB
Single nucleotide variant
(synonymous variant +1 more)
not specified
+1 more
GBenign
NEB
(N5274I)
Single nucleotide variant
(missense variant +1 more)
not specified
GBenign/Likely benign
NEB
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
NEB
Single nucleotide variant
(synonymous variant +1 more)
not specified
+1 more
GBenign/Likely benign
NEB
(R4392H)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
NEB
(E4361K)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
NEB
(A4223T)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GBenign/Likely benign
NEB
(M3716I +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GBenign
NEB
Duplication
(intron variant)
not specified
+1 more
GBenign/Likely benign
NEB
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign/Likely benign
NEB
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GConflicting classifications of pathogenicity
NEB
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
NEB
(G3046S +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
NEB
(I3156N)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GBenign/Likely benign
NEB
(E3116K)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GLikely benign
NEB
Single nucleotide variant
(synonymous variant)
Nemaline myopathy 2
+2 more
GBenign
NEB
(R2773Q)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
NEB
Single nucleotide variant
(synonymous variant)
Nemaline myopathy 2
+2 more
GConflicting classifications of pathogenicity
NEB
(R2437Q)
Single nucleotide variant
(missense variant)
not specified
+1 more
GBenign/Likely benign
NEB
(I2239M)
Single nucleotide variant
(missense variant)
not specified
+1 more
GBenign
NEB
(M2023I)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign/Likely benign
NEB
(R1856Q)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
NEB
(M1852R)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
NEB
Duplication
(intron variant)
Nemaline myopathy 2
+1 more
GBenign/Likely benign
NEB
(K1550R)
Single nucleotide variant
(missense variant)
NEB-related disorder
+3 more
GConflicting classifications of pathogenicity
NEB
(E1469D)
Single nucleotide variant
(missense variant)
not specified
+1 more
GBenign
NEB
(V1213I)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
NEB
(N1198S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
NEB
(Y1064C)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
NEB
(K837R)
Single nucleotide variant
(missense variant)
Nemaline myopathy 2
+3 more
GConflicting classifications of pathogenicity
NEB
(Y422*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
NEB
Single nucleotide variant
(synonymous variant)
Arthrogryposis multiplex congenita 6
+3 more
GBenign
NEB
Single nucleotide variant
(intron variant)
Nemaline myopathy 2
+1 more
GBenign
NEB
(E191Q)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
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