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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DNAJB6
Single nucleotide variant
(synonymous variant)
DNAJB6-related disorder
+3 more
GConflicting classifications of pathogenicity
DNAJB6
(D18N)
Single nucleotide variant
(missense variant)
DNAJB6-related disorder
+1 more
GUncertain significance
DNAJB6
(F114L)
Single nucleotide variant
(missense variant)
DNAJB6-related disorder
+2 more
GConflicting classifications of pathogenicity
DNAJB6
(S321L +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
+5 more
GConflicting classifications of pathogenicity
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