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Links from MedGen

Items: 1 to 100 of 362

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DNAJB6
(Y65C)
Single nucleotide variant
(missense variant)
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
GUncertain significance
DNAJB6
(F114D)
Indel
(missense variant)
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
GUncertain significance
DNAJB6
(P129H)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
GUncertain significance
DNAJB6
(N95K)
Single nucleotide variant
(missense variant)
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
GUncertain significance
DNAJB6
Single nucleotide variant
(synonymous variant)
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
GLikely benign
DNAJB6
(R126Q)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
GUncertain significance
DNAJB6
Single nucleotide variant
(intron variant)
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
GLikely benign
DNAJB6
Single nucleotide variant
(intron variant)
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
GLikely benign
DNAJB6
Indel
(intron variant)
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
GUncertain significance
DNAJB6
(I203V)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
GUncertain significance
DNAJB6
Single nucleotide variant
(synonymous variant)
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
GLikely benign
DNAJB6
Single nucleotide variant
(intron variant)
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
GLikely benign
DNAJB6
(R129W +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
GUncertain significance
DNAJB6
Single nucleotide variant
(intron variant)
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
GLikely benign
DNAJB6
(A22V)
Single nucleotide variant
(missense variant)
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
GUncertain significance
DNAJB6
(G128S)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
GUncertain significance
DNAJB6
Duplication
(intron variant)
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
GBenign
DNAJB6
(K20R)
Single nucleotide variant
(missense variant)
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
GUncertain significance
DNAJB6
Single nucleotide variant
(stop lost)
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
GUncertain significance
DNAJB6
Single nucleotide variant
(synonymous variant)
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
GLikely benign
DNAJB6
(A151V +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
GUncertain significance
DNAJB6
(A181T +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
GUncertain significance
DNAJB6
(R242H +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
GUncertain significance
DNAJB6
(A124P +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
GUncertain significance
DNAJB6
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
GLikely benign
DNAJB6
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
GLikely benign
DNAJB6
(P148F +1 more)
Indel
(missense variant)
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
GUncertain significance
DNAJB6
(R198T +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
GUncertain significance
DNAJB6
(G170R)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
GUncertain significance
DNAJB6
Single nucleotide variant
(intron variant)
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
GLikely benign
DNAJB6
(T159K)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
GUncertain significance
DNAJB6
(R24W)
Single nucleotide variant
(missense variant)
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
GUncertain significance
DNAJB6
Single nucleotide variant
(synonymous variant)
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
GLikely benign
DNAJB6
Single nucleotide variant
(intron variant)
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
GLikely benign
DNAJB6
Single nucleotide variant
(intron variant)
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
GLikely benign
DNAJB6
Single nucleotide variant
(intron variant)
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
GLikely benign
DNAJB6
(M197K)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
GUncertain significance
DNAJB6
Indel
(intron variant)
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
GUncertain significance
DNAJB6
(R127fs +1 more)
Duplication
(frameshift variant)
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
GUncertain significance
DNAJB6
Single nucleotide variant
(intron variant)
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
GLikely benign
DNAJB6
(P139R +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
GUncertain significance
DNAJB6
(D18N)
Single nucleotide variant
(missense variant)
DNAJB6-related disorder
+1 more
GUncertain significance
DNAJB6
(E165K +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
GUncertain significance
DNAJB6
(T92P)
Single nucleotide variant
(missense variant)
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
GUncertain significance
DNAJB6
(D58H)
Single nucleotide variant
(missense variant)
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
GUncertain significance
DNAJB6
(S163L)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
GUncertain significance
DNAJB6
(P174R +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
GUncertain significance
DNAJB6
(R127L +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
GUncertain significance
DNAJB6
(P145L +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
GUncertain significance
DNAJB6
Single nucleotide variant
(splice acceptor variant)
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
GUncertain significance
DNAJB6
(S142F)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
GUncertain significance
DNAJB6
Single nucleotide variant
(intron variant)
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
GConflicting classifications of pathogenicity
DNAJB6
(R126*)
Single nucleotide variant
(nonsense +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
GUncertain significance
DNAJB6
Duplication
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
GUncertain significance
DNAJB6
Duplication
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
GUncertain significance
DNAJB6
Duplication
(inframe_insertion)
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
GUncertain significance
DNAJB6
(G175R +1 more)
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)
GUncertain significance
DNAJB6
Single nucleotide variant
(intron variant)
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
GUncertain significance
DNAJB6
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
GLikely benign
DNAJB6
Single nucleotide variant
(intron variant)
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
GLikely benign
DNAJB6
Single nucleotide variant
(synonymous variant)
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
GLikely benign
DNAJB6
Single nucleotide variant
(synonymous variant)
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
GLikely benign
DNAJB6
Single nucleotide variant
(intron variant)
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
GLikely benign
DNAJB6
(T204I)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
GUncertain significance
DNAJB6
Single nucleotide variant
(intron variant)
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
GLikely benign
DNAJB6
Single nucleotide variant
(intron variant)
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
GUncertain significance
DNAJB6
(G124E)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
GUncertain significance
DNAJB6
(A183T +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
GUncertain significance
DNAJB6
(S192P)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
GUncertain significance
DNAJB6
(P96L)
Single nucleotide variant
(missense variant)
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
GPathogenic
DNAJB6
(P129T)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
GUncertain significance
DNAJB6
(G78E)
Single nucleotide variant
(missense variant)
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
GUncertain significance
DNAJB6
Single nucleotide variant
(synonymous variant)
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
GLikely benign
DNAJB6
Single nucleotide variant
(intron variant)
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
GLikely benign
DNAJB6
Single nucleotide variant
(intron variant)
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
GLikely benign
DNAJB6
Single nucleotide variant
(synonymous variant)
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
GLikely benign
DNAJB6
(I229V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
DNAJB6
(G209C +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
GUncertain significance
DNAJB6
Single nucleotide variant
(intron variant)
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
GLikely benign
DNAJB6
(Q234K)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
GLikely benign
DNAJB6
Single nucleotide variant
(intron variant)
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
GLikely benign
DNAJB6
Single nucleotide variant
(synonymous variant)
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
GLikely benign
DNAJB6
(E214Q)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
+1 more
GUncertain significance
DNAJB6
(R258C +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
GUncertain significance
DNAJB6
(R237C)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
GLikely benign
DNAJB6
(E17*)
Single nucleotide variant
(nonsense)
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
GUncertain significance
DNAJB6
Deletion
(intron variant)
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
GBenign
DNAJB6
Single nucleotide variant
(intron variant)
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
GLikely benign
DNAJB6
(G141S +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
GUncertain significance
DNAJB6
(K206T)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
GUncertain significance
DNAJB6
(A137T +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
GUncertain significance
DNAJB6
(F114V)
Single nucleotide variant
(missense variant)
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
GUncertain significance
DNAJB6
(G212D)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
+1 more
GUncertain significance
DNAJB6
Single nucleotide variant
(synonymous variant)
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
GLikely benign
DNAJB6
Single nucleotide variant
(synonymous variant)
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
GLikely benign
DNAJB6
Single nucleotide variant
(synonymous variant)
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
GLikely benign
DNAJB6
(A252P +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
GUncertain significance
DNAJB6
(D234N +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
GUncertain significance
DNAJB6
(A122V +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
GUncertain significance
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