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Links from MedGen

Items: 32

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADSS1
Insertion
(splice donor variant)
Myopathy, distal, 5
GUncertain significance
ADSS1
(A9fs)
Deletion
(5 prime UTR variant +2 more)
Myopathy, distal, 5
GLikely pathogenic
ADSS1
(Q250L +2 more)
Single nucleotide variant
(missense variant)
Myopathy, distal, 5
GUncertain significance
ADSS1
(N110K +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
Myopathy, distal, 5
GUncertain significance
ADSS1
(V137L +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
Myopathy, distal, 5
GUncertain significance
ADSS1
(C183F +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
Myopathy, distal, 5
GUncertain significance
ADSS1
(G203E +2 more)
Single nucleotide variant
(missense variant)
Myopathy, distal, 5
GUncertain significance
ADSS1
(C275G +2 more)
Single nucleotide variant
(missense variant)
Myopathy, distal, 5
GUncertain significance
ADSS1
(Q45P)
Single nucleotide variant
(5 prime UTR variant +2 more)
Myopathy, distal, 5
GUncertain significance
ADSS1
(L217Q +2 more)
Single nucleotide variant
(missense variant)
Myopathy, distal, 5
GUncertain significance
ADSS1
(A31S)
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
+2 more
GUncertain significance
ADSS1
(R226C +2 more)
Single nucleotide variant
(missense variant)
Myopathy, distal, 5
+2 more
GUncertain significance
ADSS1
(R304H +2 more)
Single nucleotide variant
(missense variant)
Myopathy, distal, 5
+2 more
GUncertain significance
ADSS1
(V294M +2 more)
Single nucleotide variant
(missense variant)
Myopathy, distal, 5
+1 more
GUncertain significance
ADSS1
(Y237H +2 more)
Single nucleotide variant
(missense variant)
Myopathy, distal, 5
+1 more
GUncertain significance
ADSS1
(I228T +2 more)
Single nucleotide variant
(missense variant)
Myopathy, distal, 5
+1 more
GUncertain significance
ADSS1
(W124C +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
Myopathy, distal, 5
+1 more
GConflicting classifications of pathogenicity
ADSS1
(L47Q)
Single nucleotide variant
(5 prime UTR variant +2 more)
Myopathy, distal, 5
+1 more
GUncertain significance
ADSS1
Single nucleotide variant
(3 prime UTR variant)
Myopathy, distal, 5
GBenign
ADSS1
Single nucleotide variant
(intron variant)
Myopathy, distal, 5
GBenign
ADSS1
Single nucleotide variant
(5 prime UTR variant +1 more)
Myopathy, distal, 5
+1 more
GBenign
ADSS1
Single nucleotide variant
(synonymous variant +2 more)
Myopathy, distal, 5
+1 more
GBenign
ADSS1
Single nucleotide variant
(synonymous variant +2 more)
Myopathy, distal, 5
+1 more
GBenign
ADSS1
Deletion
(splice acceptor variant)
Myopathy, distal, 5
+1 more
GLikely pathogenic
ADSS1
Single nucleotide variant
(splice acceptor variant)
Myopathy, distal, 5
+1 more
GConflicting classifications of pathogenicity
ADSS1
(I45M +2 more)
Single nucleotide variant
(missense variant)
Myopathy, distal, 5
GUncertain significance
ADSS1
(A300T +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ADSS1
(L407P +2 more)
Single nucleotide variant
(missense variant)
Myopathy, distal, 5
GPathogenic
ADSS1
(K291fs +2 more)
Deletion
(frameshift variant)
not provided
+3 more
GPathogenic/Likely pathogenic
ADSS1, LOC130056631
(G13fs)
Duplication
(frameshift variant)
Myopathy, distal, 5
GUncertain significance
ADSS1
(I307fs +2 more)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic
ADSS1
(D304N +2 more)
Single nucleotide variant
(missense variant)
ADSS1-related disorder
+2 more
GPathogenic/Likely pathogenic
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