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Links from MedGen

Items: 93

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PUS1
(V127fs +1 more)
Duplication
(frameshift variant)
Myopathy, lactic acidosis, and sideroblastic anemia 1
GLikely pathogenic
PUS1
(V270fs +1 more)
Deletion
(frameshift variant)
Myopathy, lactic acidosis, and sideroblastic anemia 1
GLikely pathogenic
PUS1
(P282fs +1 more)
Deletion
(frameshift variant)
Myopathy, lactic acidosis, and sideroblastic anemia 1
GLikely pathogenic
PUS1
(H145fs +1 more)
Deletion
(frameshift variant)
Myopathy, lactic acidosis, and sideroblastic anemia 1
GLikely pathogenic
LOC130009240, PUS1
(Q16fs +1 more)
Duplication
(frameshift variant)
Myopathy, lactic acidosis, and sideroblastic anemia 1
GLikely pathogenic
LOC130009240, PUS1
(C14fs +1 more)
Duplication
(frameshift variant)
Myopathy, lactic acidosis, and sideroblastic anemia 1
GPathogenic
LOC130009240, PUS1
(E32fs +1 more)
Deletion
(frameshift variant)
Myopathy, lactic acidosis, and sideroblastic anemia 1
GLikely pathogenic
PUS1
Single nucleotide variant
(splice acceptor variant)
Myopathy, lactic acidosis, and sideroblastic anemia 1
GLikely pathogenic
PUS1
(Q265* +1 more)
Single nucleotide variant
(nonsense)
Myopathy, lactic acidosis, and sideroblastic anemia 1
GLikely pathogenic
PUS1
Single nucleotide variant
(splice acceptor variant)
Myopathy, lactic acidosis, and sideroblastic anemia 1
GLikely pathogenic
PUS1
Single nucleotide variant
(splice acceptor variant)
Myopathy, lactic acidosis, and sideroblastic anemia 1
GLikely pathogenic
PUS1
(H145Y +1 more)
Single nucleotide variant
(missense variant)
Myopathy, lactic acidosis, and sideroblastic anemia 1
GUncertain significance
PUS1
(Q154* +1 more)
Single nucleotide variant
(nonsense)
Myopathy, lactic acidosis, and sideroblastic anemia 1
+1 more
GPathogenic
PUS1
(K278* +1 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
PUS1
(E199K +1 more)
Single nucleotide variant
(missense variant)
Myopathy, lactic acidosis, and sideroblastic anemia 1
+1 more
GUncertain significance
LOC130009240, PUS1
(P8fs +1 more)
Deletion
(frameshift variant)
Myopathy, lactic acidosis, and sideroblastic anemia 1
+1 more
GPathogenic/Likely pathogenic
LOC132090059, PUS1
(Q112* +1 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
PUS1
(S26fs)
Duplication
(frameshift variant +1 more)
Myopathy, lactic acidosis, and sideroblastic anemia 1
GLikely pathogenic
PUS1
(R267Q +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
PUS1
(W15*)
Single nucleotide variant
(nonsense +1 more)
not provided
+2 more
GPathogenic/Likely pathogenic
PUS1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
PUS1
Single nucleotide variant
(3 prime UTR variant)
Myopathy, lactic acidosis, and sideroblastic anemia 1
GBenign
PUS1
(V217I +1 more)
Single nucleotide variant
(missense variant)
Myopathy, lactic acidosis, and sideroblastic anemia 1
+1 more
GUncertain significance
PUS1
(K185R +1 more)
Single nucleotide variant
(missense variant)
Myopathy, lactic acidosis, and sideroblastic anemia 1
GUncertain significance
PUS1
Single nucleotide variant
(3 prime UTR variant)
Myopathy, lactic acidosis, and sideroblastic anemia 1
+1 more
GBenign/Likely benign
PUS1
Single nucleotide variant
(3 prime UTR variant)
Myopathy, lactic acidosis, and sideroblastic anemia 1
GUncertain significance
PUS1
Single nucleotide variant
(3 prime UTR variant)
Myopathy, lactic acidosis, and sideroblastic anemia 1
GUncertain significance
LOC132090059, PUS1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
LOC132090059, PUS1
(R94Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
PUS1
(I349V +1 more)
Single nucleotide variant
(missense variant)
Myopathy, lactic acidosis, and sideroblastic anemia 1
GUncertain significance
PUS1
(G68D +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PUS1
Single nucleotide variant
(5 prime UTR variant +1 more)
Myopathy, lactic acidosis, and sideroblastic anemia 1
GUncertain significance
PUS1
Single nucleotide variant
(5 prime UTR variant +1 more)
Myopathy, lactic acidosis, and sideroblastic anemia 1
GUncertain significance
PUS1
(R316C +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PUS1
(V313M +1 more)
Single nucleotide variant
(missense variant)
Myopathy, lactic acidosis, and sideroblastic anemia 1
+1 more
GUncertain significance
PUS1
Single nucleotide variant
(5 prime UTR variant)
Myopathy, lactic acidosis, and sideroblastic anemia 1
GUncertain significance
PUS1
Single nucleotide variant
Myopathy, lactic acidosis, and sideroblastic anemia 1
GUncertain significance
PUS1
(Q361R +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
PUS1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
PUS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PUS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PUS1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PUS1
(A331V +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
LOC130009240, PUS1
(P9R +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign/Likely benign
PUS1
(V274M +1 more)
Single nucleotide variant
(missense variant)
PUS1-related disorder
+1 more
GLikely benign
PUS1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PUS1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
PUS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PUS1
(Y346* +1 more)
Single nucleotide variant
(nonsense)
Myopathy, lactic acidosis, and sideroblastic anemia 1
GPathogenic
PUS1
(T377M +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely benign
PUS1
(F272fs +1 more)
Deletion
(frameshift variant)
Myopathy, lactic acidosis, and sideroblastic anemia 1
GLikely pathogenic
PUS1
Single nucleotide variant
(intron variant)
not specified
+2 more
GLikely benign
PUS1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
PUS1
(Y211* +1 more)
Single nucleotide variant
(nonsense)
Myopathy, lactic acidosis, and sideroblastic anemia 1
GLikely pathogenic
PUS1
Single nucleotide variant
(intron variant)
Myopathy, lactic acidosis, and sideroblastic anemia 1
+1 more
GConflicting classifications of pathogenicity
PUS1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+3 more
GBenign
PUS1
Single nucleotide variant
(3 prime UTR variant)
Myopathy, lactic acidosis, and sideroblastic anemia 1
GUncertain significance
PUS1
Single nucleotide variant
(3 prime UTR variant)
Myopathy, lactic acidosis, and sideroblastic anemia 1
GUncertain significance
PUS1
Single nucleotide variant
(3 prime UTR variant)
Myopathy, lactic acidosis, and sideroblastic anemia 1
GUncertain significance
PUS1
Single nucleotide variant
(3 prime UTR variant)
Myopathy, lactic acidosis, and sideroblastic anemia 1
GLikely benign
PUS1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
PUS1
(G351S +1 more)
Single nucleotide variant
(missense variant)
Myopathy, lactic acidosis, and sideroblastic anemia 1
GUncertain significance
PUS1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
PUS1
Single nucleotide variant
(synonymous variant)
Myopathy, lactic acidosis, and sideroblastic anemia 1
+2 more
GBenign/Likely benign
PUS1
(T242M +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
PUS1
(T200M +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PUS1
(R215Q +1 more)
Single nucleotide variant
(missense variant)
Myopathy, lactic acidosis, and sideroblastic anemia 1
GUncertain significance
PUS1
(R215W +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
LOC132090059, PUS1
Single nucleotide variant
(synonymous variant)
Myopathy, lactic acidosis, and sideroblastic anemia 1
+1 more
GConflicting classifications of pathogenicity
PUS1
Single nucleotide variant
(synonymous variant)
Myopathy, lactic acidosis, and sideroblastic anemia 1
+1 more
GConflicting classifications of pathogenicity
PUS1
Single nucleotide variant
(intron variant +1 more)
not provided
+1 more
GBenign
PUS1
Single nucleotide variant
(intron variant +1 more)
Myopathy, lactic acidosis, and sideroblastic anemia 1
GUncertain significance
PUS1
Single nucleotide variant
(5 prime UTR variant +1 more)
Myopathy, lactic acidosis, and sideroblastic anemia 1
GUncertain significance
PUS1
Single nucleotide variant
(5 prime UTR variant +1 more)
Myopathy, lactic acidosis, and sideroblastic anemia 1
GUncertain significance
PUS1
Single nucleotide variant
(5 prime UTR variant +1 more)
Myopathy, lactic acidosis, and sideroblastic anemia 1
GUncertain significance
PUS1
Single nucleotide variant
Myopathy, lactic acidosis, and sideroblastic anemia 1
GUncertain significance
PUS1
(R295W +1 more)
Single nucleotide variant
(missense variant)
Myopathy, lactic acidosis, and sideroblastic anemia 1
GPathogenic
PUS1
(V253M +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PUS1
(H36Y +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC130009240, PUS1
(R18W +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PUS1
Single nucleotide variant
(synonymous variant)
Myopathy, lactic acidosis, and sideroblastic anemia 1
+2 more
GConflicting classifications of pathogenicity
PUS1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
PUS1
(R246Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
PUS1
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
PUS1
Single nucleotide variant
(3 prime UTR variant)
not specified
+1 more
GBenign
LOC132090059, PUS1
(D105N +1 more)
Single nucleotide variant
(missense variant)
PUS1-related disorder
+3 more
GBenign/Likely benign
PUS1, LOC132090059
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
LOC132090059, PUS1
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
PUS1
Single nucleotide variant
(synonymous variant)
PUS1-related disorder
+3 more
GBenign/Likely benign
PUS1
Single nucleotide variant
(synonymous variant)
Myopathy, lactic acidosis, and sideroblastic anemia 1
+2 more
GBenign/Likely benign
PUS1
Single nucleotide variant
(synonymous variant)
Myopathy, lactic acidosis, and sideroblastic anemia 1
+2 more
GBenign/Likely benign
PUS1
(E220* +1 more)
Single nucleotide variant
(nonsense)
Myopathy, lactic acidosis, and sideroblastic anemia 1
GPathogenic
LOC132090059, PUS1
(R116W +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
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