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Links from MedGen

Items: 100

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL6A3
(E1150A +4 more)
Single nucleotide variant
(missense variant)
Ullrich congenital muscular dystrophy 1
GUncertain significance
COL6A2
(D712H)
Single nucleotide variant
(missense variant)
Ullrich congenital muscular dystrophy 1
GUncertain significance
COL6A3
(G1473C +4 more)
Single nucleotide variant
(missense variant)
Ullrich congenital muscular dystrophy 1
GLikely pathogenic
COL6A3
(P2410fs +2 more)
Duplication
(frameshift variant)
Ullrich congenital muscular dystrophy 1
GLikely pathogenic
COL6A3
Single nucleotide variant
(splice acceptor variant)
Ullrich congenital muscular dystrophy 1
GLikely pathogenic
COL6A2
Single nucleotide variant
(splice donor variant)
Ullrich congenital muscular dystrophy 1
GLikely pathogenic
COL6A1
(G590E)
Single nucleotide variant
(missense variant)
Ullrich congenital muscular dystrophy 1
GUncertain significance
COL6A3
Deletion
Ullrich congenital muscular dystrophy 1
GLikely pathogenic
COL6A3
(G1446D +4 more)
Single nucleotide variant
(missense variant)
Bethlem myopathy 1
GPathogenic
COL6A2
(P341T)
Single nucleotide variant
(missense variant)
Ullrich congenital muscular dystrophy 1
GLikely pathogenic
COL6A2
(L838V)
Single nucleotide variant
(missense variant)
Ullrich congenital muscular dystrophy 1
GUncertain significance
COL6A3
(G1305A +3 more)
Single nucleotide variant
(missense variant)
Ullrich congenital muscular dystrophy 1
GUncertain significance
COL6A1
(Y78*)
Single nucleotide variant
(nonsense)
Ullrich congenital muscular dystrophy 1
GPathogenic
COL6A3
(R1547* +4 more)
Single nucleotide variant
(nonsense)
Ullrich congenital muscular dystrophy 1
GPathogenic
COL6A3
(V2452fs +2 more)
Deletion
(frameshift variant)
Ullrich congenital muscular dystrophy 1
GLikely pathogenic
COL6A3
(R1942* +4 more)
Single nucleotide variant
(nonsense)
Ullrich congenital muscular dystrophy 1
GLikely pathogenic
COL6A2
(N34fs)
Deletion
(frameshift variant)
Ullrich congenital muscular dystrophy 1
+2 more
GPathogenic
COL6A2
Single nucleotide variant
(splice acceptor variant)
Ullrich congenital muscular dystrophy 1
+1 more
GPathogenic
COL6A3, LOC122889011
Single nucleotide variant
(splice acceptor variant)
Ullrich congenital muscular dystrophy 1
+1 more
GPathogenic
COL6A3
(R268S +2 more)
Single nucleotide variant
(missense variant)
Ullrich congenital muscular dystrophy 1
GUncertain significance
COL6A3
(Y2085fs +2 more)
Deletion
(frameshift variant)
Ullrich congenital muscular dystrophy 1
GLikely pathogenic
COL6A2
Single nucleotide variant
(intron variant)
Ullrich congenital muscular dystrophy 1
GUncertain significance
COL6A3
(L2221fs +2 more)
Deletion
(frameshift variant)
Ullrich congenital muscular dystrophy 1
GPathogenic
COL6A1
Single nucleotide variant
(synonymous variant)
Bethlem myopathy 1
+1 more
GLikely benign
COL6A1
(K61E)
Single nucleotide variant
(missense variant)
Bethlem myopathy 1
GLikely benign
COL6A3
(Q304R +1 more)
Single nucleotide variant
(missense variant +1 more)
Bethlem myopathy 1
+2 more
GUncertain significance
COL6A3
(L1304F +2 more)
Single nucleotide variant
(missense variant)
Bethlem myopathy 1
GUncertain significance
COL6A2
(G840D)
Single nucleotide variant
(missense variant)
Ullrich congenital muscular dystrophy 1
GUncertain significance
COL6A1
Microsatellite
(splice donor variant)
Ullrich congenital muscular dystrophy 1
GLikely pathogenic
COL6A1
(C820*)
Single nucleotide variant
(nonsense)
Ullrich congenital muscular dystrophy 1
GPathogenic
COL6A2
(G328R)
Single nucleotide variant
(missense variant)
Ullrich congenital muscular dystrophy 1
GLikely pathogenic
COL6A2
Single nucleotide variant
(intron variant)
Ullrich congenital muscular dystrophy 1
GLikely pathogenic
COL6A2
(C37*)
Single nucleotide variant
(nonsense)
Ullrich congenital muscular dystrophy 1
GLikely pathogenic
COL6A2
(V951F)
Single nucleotide variant
(missense variant)
Bethlem myopathy 1
GUncertain significance
COL6A1
(R27W)
Single nucleotide variant
(missense variant)
Ullrich congenital muscular dystrophy 1
GUncertain significance
COL6A2
(Q852*)
Single nucleotide variant
(nonsense +2 more)
Ullrich congenital muscular dystrophy 1
GPathogenic
COL6A3
(R1299L +2 more)
Single nucleotide variant
(missense variant)
Bethlem myopathy 1
+1 more
GUncertain significance
COL6A1
(H1018Y)
Single nucleotide variant
(missense variant)
Ullrich congenital muscular dystrophy 1
GUncertain significance
COL6A1
(S675T)
Single nucleotide variant
(missense variant)
Ullrich congenital muscular dystrophy 1
GUncertain significance
COL12A1
(R486W)
Single nucleotide variant
(missense variant +1 more)
Ullrich congenital muscular dystrophy 2
+1 more
GUncertain significance
COL6A3
(A217V +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
COL6A2
Single nucleotide variant
(splice acceptor variant)
Ullrich congenital muscular dystrophy 1
GLikely pathogenic
COL6A2
(E422K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
COL12A1
Single nucleotide variant
(splice donor variant)
Ullrich congenital muscular dystrophy 2
+1 more
GLikely pathogenic
COL6A2
Microsatellite
(nonsense)
Ullrich congenital muscular dystrophy 1
+1 more
GPathogenic
COL6A3
(A1152G +2 more)
Single nucleotide variant
(missense variant)
Bethlem myopathy 1
+2 more
GConflicting classifications of pathogenicity
COL6A3
(G1023S +3 more)
Single nucleotide variant
(missense variant)
Ullrich congenital muscular dystrophy 1
+1 more
GUncertain significance
COL6A3
(V1151G +3 more)
Single nucleotide variant
(missense variant)
Ullrich congenital muscular dystrophy 1
GUncertain significance
COL6A1
Single nucleotide variant
(splice donor variant)
Ullrich congenital muscular dystrophy 1
GUncertain significance
COL6A3
(E90V)
Single nucleotide variant
(missense variant +1 more)
Ullrich congenital muscular dystrophy 1
GUncertain significance
COL6A2
(P357L)
Single nucleotide variant
(missense variant)
Bethlem myopathy 1
+2 more
GUncertain significance
COL6A1
(G159R)
Single nucleotide variant
(missense variant)
Bethlem myopathy 1
+1 more
GConflicting classifications of pathogenicity
COL6A1
(R574Q)
Single nucleotide variant
(missense variant)
Bethlem myopathy 1
+2 more
GConflicting classifications of pathogenicity
COL6A1
(G287E)
Single nucleotide variant
(missense variant)
Bethlem myopathy 1
+1 more
GConflicting classifications of pathogenicity
COL6A2
Single nucleotide variant
(synonymous variant)
Ullrich congenital muscular dystrophy 1
+1 more
GConflicting classifications of pathogenicity
COL6A3
(V657M +3 more)
Single nucleotide variant
(missense variant)
Bethlem myopathy 1
GLikely benign
COL6A2
(R993C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
COL6A1
(G296V)
Single nucleotide variant
(missense variant)
Bethlem myopathy 1
+1 more
GPathogenic/Likely pathogenic
COL6A1
(V840M)
Single nucleotide variant
(missense variant)
Bethlem myopathy 1
+2 more
GConflicting classifications of pathogenicity
COL6A1
Single nucleotide variant
(splice donor variant)
Bethlem myopathy 1
+2 more
GLikely pathogenic
COL12A1
(R265C)
Single nucleotide variant
(missense variant +1 more)
Bethlem myopathy 2
+2 more
GUncertain significance
COL6A3
(R1984* +2 more)
Single nucleotide variant
(nonsense)
Ullrich congenital muscular dystrophy 1
+2 more
GPathogenic/Likely pathogenic
COL6A3
(R2444W +2 more)
Single nucleotide variant
(missense variant)
Ullrich congenital muscular dystrophy 1
+1 more
GUncertain significance
COL6A1
Single nucleotide variant
(intron variant)
Ullrich congenital muscular dystrophy 1
+1 more
GPathogenic/Likely pathogenic
COL6A2
(A690G)
Single nucleotide variant
(missense variant)
Ullrich congenital muscular dystrophy 1
GUncertain significance
COL6A2
(E959K)
Single nucleotide variant
(missense variant)
Bethlem myopathy 1
GLikely benign
COL6A1
(G263C)
Single nucleotide variant
(missense variant)
Ullrich congenital muscular dystrophy 1
GLikely pathogenic
COL6A1
(P495S)
Single nucleotide variant
(missense variant)
Ullrich congenital muscular dystrophy 1
GLikely pathogenic
COL6A1
(D548fs)
Deletion
(frameshift variant)
Ullrich congenital muscular dystrophy 1
+1 more
GPathogenic
COL6A3, LOC122889011
Single nucleotide variant
(splice acceptor variant)
not provided
+2 more
GPathogenic/Likely pathogenic
COL6A2
(G371S)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
COL6A3
(L746I +2 more)
Single nucleotide variant
(missense variant +1 more)
Dystonia 27
+2 more
GUncertain significance
COL12A1
(A703V)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GConflicting classifications of pathogenicity
COL6A1
Deletion
(splice donor variant)
Bethlem myopathy 1
+1 more
GLikely benign
COL6A1
Single nucleotide variant
(intron variant)
Ullrich congenital muscular dystrophy 1
+2 more
GPathogenic
COL12A1
(I587T)
Single nucleotide variant
(missense variant +1 more)
Ullrich congenital muscular dystrophy
+2 more
GConflicting classifications of pathogenicity
COL6A1
Single nucleotide variant
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
COL6A2
(F1010C)
Single nucleotide variant
(missense variant)
Myosclerosis
+4 more
GUncertain significance
COL6A3
(A769V +2 more)
Single nucleotide variant
(missense variant +1 more)
Bethlem myopathy 1
+1 more
GConflicting classifications of pathogenicity
COL6A3
(R2136S +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
COL6A2
(R539*)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic/Likely pathogenic
COL6A3
(I1437F +2 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
COL6A2
(L976S)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
COL6A1
(V971M)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
COL6A3
(D1074N +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
COL6A3, LOC122889011
Single nucleotide variant
(intron variant)
Ullrich congenital muscular dystrophy 1
+1 more
GPathogenic/Likely pathogenic
COL6A3
(R836* +3 more)
Single nucleotide variant
(nonsense)
not provided
+3 more
GPathogenic/Likely pathogenic
COL6A3
Deletion
(splice acceptor variant)
COL6A3-related condition
GPathogenic
COL6A3
Single nucleotide variant
(intron variant)
Bethlem myopathy 1
+3 more
GBenign
COL6A2
Single nucleotide variant
(splice acceptor variant)
Bethlem myopathy 1
+6 more
GPathogenic/Likely pathogenic
COL6A3
(V1945M +2 more)
Single nucleotide variant
(missense variant)
Collagen 6-related myopathy
+3 more
GConflicting classifications of pathogenicity
COL6A2
(E529K)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
COL6A3
(R1075W +3 more)
Single nucleotide variant
(missense variant)
Bethlem myopathy 1
+4 more
GConflicting classifications of pathogenicity
COL6A3
(P1942L +2 more)
Single nucleotide variant
(missense variant)
Bethlem myopathy 1
+3 more
GConflicting classifications of pathogenicity
COL6A3
(E2746K +2 more)
Single nucleotide variant
(missense variant)
Ullrich congenital muscular dystrophy 1
+3 more
GConflicting classifications of pathogenicity
COL6A3
Single nucleotide variant
(intron variant)
Ullrich congenital muscular dystrophy 1
+3 more
GConflicting classifications of pathogenicity
COL6A2
(D751N)
Single nucleotide variant
(missense variant)
Ullrich congenital muscular dystrophy 1
+3 more
GConflicting classifications of pathogenicity
COL6A2
(A875T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
COL6A3, LOC122889011
Single nucleotide variant
(splice donor variant)
not provided
+2 more
GPathogenic/Likely pathogenic
COL6A3
(G1019R +3 more)
Single nucleotide variant
(missense variant)
COL6A3-related condition
+4 more
GConflicting classifications of pathogenicity
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