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Items: 67

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DNAJB6
Single nucleotide variant
(5 prime UTR variant)
not provided
GUncertain significance
DNAJB6
Single nucleotide variant
(5 prime UTR variant)
not provided
+1 more
GUncertain significance
DNAJB6
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GConflicting classifications of pathogenicity
DNAJB6
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
DNAJB6
(A22T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DNAJB6
(A50V)
Single nucleotide variant
(missense variant)
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
+1 more
GConflicting classifications of pathogenicity
DNAJB6
(R62W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DNAJB6
(G77V)
Single nucleotide variant
(missense variant)
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
+1 more
GUncertain significance
DNAJB6
Single nucleotide variant
(intron variant)
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
+1 more
GConflicting classifications of pathogenicity
DNAJB6
(F89I)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
DNAJB6
(F91V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
DNAJB6
(F91L)
Single nucleotide variant
(missense variant)
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
+2 more
GPathogenic
DNAJB6
Single nucleotide variant
(synonymous variant)
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
+1 more
GConflicting classifications of pathogenicity
DNAJB6
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign/Likely benign
DNAJB6
(F93L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
DNAJB6
(F93L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
DNAJB6
(P96R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
DNAJB6
(F100S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DNAJB6
(F114L)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
DNAJB6
(F123del)
Microsatellite
(inframe_deletion +1 more)
not provided
GUncertain significance
DNAJB6
(R127S)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
+1 more
GUncertain significance
DNAJB6
(T137M)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
DNAJB6
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
DNAJB6
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
+2 more
GBenign/Likely benign
DNAJB6
(A143V)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
+1 more
GConflicting classifications of pathogenicity
DNAJB6
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
DNAJB6
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GBenign/Likely benign
DNAJB6
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
DNAJB6
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
DNAJB6
(T159I)
Single nucleotide variant
(missense variant +1 more)
Myofibrillar Myopathy, Dominant
+3 more
GUncertain significance
DNAJB6
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
DNAJB6
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
DNAJB6
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
+1 more
GConflicting classifications of pathogenicity
DNAJB6
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
DNAJB6
(S183G)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
DNAJB6
Single nucleotide variant
(synonymous variant +1 more)
not specified
+2 more
GConflicting classifications of pathogenicity
DNAJB6
(I191V)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
DNAJB6
(R201K)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
DNAJB6
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
DNAJB6
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
DNAJB6
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
DNAJB6
(D221N)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
DNAJB6
(D236N +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
DNAJB6
(A237P +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DNAJB6
(E241K +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DNAJB6
(L257P +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DNAJB6
(P259S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DNAJB6
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
DNAJB6
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GConflicting classifications of pathogenicity
DNAJB6
(E278Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DNAJB6
(P286L +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DNAJB6
(R287Q +1 more)
Single nucleotide variant
(missense variant)
Limb-Girdle Muscular Dystrophy, Dominant
+3 more
GBenign/Likely benign
DNAJB6
(A288T +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DNAJB6
(G290R +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DNAJB6
(P291T +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DNAJB6
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
DNAJB6
(K308R +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DNAJB6
(Q310K +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
+1 more
GUncertain significance
DNAJB6
(S316W +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
+1 more
GUncertain significance
DNAJB6
(S316L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
DNAJB6
Single nucleotide variant
(synonymous variant)
Limb-Girdle Muscular Dystrophy, Dominant
+2 more
GBenign/Likely benign
DNAJB6
(K320del +1 more)
Microsatellite
(inframe_deletion)
not provided
+1 more
GUncertain significance
DNAJB6
(K320S +1 more)
Indel
(missense variant)
not provided
GUncertain significance
DNAJB6
(S321P +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
+2 more
GBenign/Likely benign
DNAJB6
(S321L +1 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
DNAJB6
(N325T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
DNAJB6
Single nucleotide variant
(3 prime UTR variant)
not provided
GUncertain significance
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