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Items: 18

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL6A3
Single nucleotide variant
(splice acceptor variant)
Dystonia 27
+2 more
GPathogenic
COL6A3
(A2554T +2 more)
Single nucleotide variant
(missense variant)
Ullrich congenital muscular dystrophy 1A
+1 more
GConflicting classifications of pathogenicity
COL6A3
(G1716S +4 more)
Single nucleotide variant
(missense variant)
Bethlem myopathy 1A
GLikely pathogenic
COL6A3
(R1656* +2 more)
Single nucleotide variant
(nonsense)
Bethlem myopathy 1A
+1 more
GLikely pathogenic
COL6A3
(R1984* +2 more)
Single nucleotide variant
(nonsense)
Ullrich congenital muscular dystrophy 1A
+2 more
GPathogenic/Likely pathogenic
COL6A3
(R1044fs +2 more)
Deletion
(frameshift variant)
Bethlem myopathy 1A
GLikely pathogenic
COL6A3
(V1293G +3 more)
Single nucleotide variant
(missense variant)
Bethlem myopathy 1A
GUncertain significance
COL6A3
(V1186M +3 more)
Single nucleotide variant
(missense variant)
Bethlem myopathy 1A
+1 more
GConflicting classifications of pathogenicity
COL6A3
(A769T +2 more)
Single nucleotide variant
(missense variant +1 more)
Collagen 6-related myopathy
+2 more
GConflicting classifications of pathogenicity
COL6A3
(G135R)
Single nucleotide variant
(missense variant +1 more)
Bethlem myopathy 1A
GUncertain significance
COL6A1
Single nucleotide variant
(intron variant)
Bethlem myopathy 1A
+2 more
GPathogenic
COL6A1
Single nucleotide variant
(splice donor variant)
Sensorimotor neuropathy
+3 more
GPathogenic/Likely pathogenic
COL6A2
(D135N)
Single nucleotide variant
(missense variant)
Bethlem myopathy 1A
GConflicting classifications of pathogenicity
COL6A2
Deletion
(intron variant)
Bethlem myopathy 1A
GUncertain significance
COL6A2
(A706T)
Single nucleotide variant
(missense variant)
Bethlem myopathy 1A
GUncertain significance
COL6A2
(V752fs)
Deletion
(frameshift variant)
Bethlem myopathy 1A
GLikely pathogenic
COL6A2
Duplication
(inframe_insertion)
Bethlem myopathy 1A
GUncertain significance
COL6A2
(D833fs)
Duplication
(frameshift variant)
Bethlem myopathy 1A
GUncertain significance
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