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Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DNAJB6
Single nucleotide variant
(synonymous variant)
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
+1 more
GConflicting classifications of pathogenicity
DNAJB6
(F91V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
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
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GBenign/Likely benign
DNAJB6
(R201K)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
DNAJB6
(G212D)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
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)
Limb-Girdle Muscular Dystrophy, Dominant
+2 more
GConflicting classifications of pathogenicity
DNAJB6
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
DNAJB6
Single nucleotide variant
(3 prime UTR variant)
Myofibrillar Myopathy, Dominant
+2 more
GConflicting classifications of pathogenicity
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