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Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL6A1
Single nucleotide variant
(synonymous variant)
Collagen 6-related myopathy
+4 more
GBenign/Likely benign
COL6A1
(S116N)
Single nucleotide variant
(missense variant)
not provided
+3 more
GBenign
COL6A1
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
COL6A1
Single nucleotide variant
(intron variant)
Bethlem myopathy 1A
+3 more
GBenign
COL6A1
Single nucleotide variant
(splice donor variant)
Sensorimotor neuropathy
+3 more
GPathogenic/Likely pathogenic
COL6A1
Single nucleotide variant
(intron variant)
not specified
+3 more
GBenign/Likely benign
COL6A1
Single nucleotide variant
(intron variant)
not specified
+3 more
GBenign
COL6A1
Single nucleotide variant
(intron variant)
not provided
+3 more
GBenign
COL6A1
Single nucleotide variant
(missense variant)
Collagen 6-related myopathy
+2 more
GBenign/Likely benign
COL6A1
(S879G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
COL6A1
Single nucleotide variant
(3 prime UTR variant)
Collagen 6-related myopathy
+1 more
GBenign
COL6A1
Single nucleotide variant
(3 prime UTR variant)
Collagen 6-related myopathy
GBenign
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