U.S. flag

An official website of the United States government

Format
Sort by
Choose Destination

Search results

Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL6A1
(G159R)
Single nucleotide variant
(missense variant)
Ullrich congenital muscular dystrophy 1A
+1 more
GConflicting classifications of pathogenicity
COL6A1
(R211C)
Single nucleotide variant
(missense variant)
Collagen 6-related myopathy
+3 more
GConflicting classifications of pathogenicity
COL6A1
Single nucleotide variant
(missense variant)
Bethlem myopathy 1A
+3 more
GPathogenic
COL6A1
(G296V)
Single nucleotide variant
(missense variant)
Bethlem myopathy 1A
+1 more
GPathogenic/Likely pathogenic
COL6A1
(C820*)
Single nucleotide variant
(nonsense)
Ullrich congenital muscular dystrophy 1A
GPathogenic
Format
Sort by
Choose Destination