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Links from MedGen

Items: 1 to 100 of 280

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TYMP
Single nucleotide variant
(splice donor variant)
Mitochondrial DNA depletion syndrome 1
GLikely pathogenic
TYMP
Deletion
(splice donor variant)
Mitochondrial DNA depletion syndrome 1
GLikely pathogenic
TYMP
Single nucleotide variant
(splice acceptor variant)
Mitochondrial DNA depletion syndrome 1
+1 more
GLikely pathogenic
TYMP
Single nucleotide variant
(splice donor variant)
Mitochondrial DNA depletion syndrome 1
GLikely pathogenic
TYMP
(C182fs)
Duplication
(frameshift variant)
Mitochondrial DNA depletion syndrome 1
GLikely pathogenic
TYMP
(Q179*)
Single nucleotide variant
(nonsense)
Mitochondrial DNA depletion syndrome 1
GLikely pathogenic
TYMP
(C183fs)
Duplication
(frameshift variant)
Mitochondrial DNA depletion syndrome 1
GLikely pathogenic
LOC130067862, SCO2
+1 more
(S362*)
Single nucleotide variant
(nonsense +1 more)
Mitochondrial DNA depletion syndrome 1
GLikely pathogenic
TYMP
(Q100*)
Single nucleotide variant
(nonsense)
Mitochondrial DNA depletion syndrome 1
GLikely pathogenic
LOC130067862, TYMP
Duplication
(splice donor variant)
Mitochondrial DNA depletion syndrome 1
GLikely pathogenic
LOC130067862, SCO2
+1 more
(L347P)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
SCO2, TYMP
(Q482* +1 more)
Single nucleotide variant
(nonsense +1 more)
Mitochondrial DNA depletion syndrome 1
GUncertain significance
TYMP
(W108*)
Single nucleotide variant
(nonsense)
Mitochondrial DNA depletion syndrome 1
+1 more
GPathogenic/Likely pathogenic
TYMP
(S30fs)
Duplication
(frameshift variant)
Mitochondrial DNA depletion syndrome 1
GPathogenic
TYMP
(L251P)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 1
GUncertain significance
LOC130067862, SCO2
+1 more
(P396L +1 more)
Single nucleotide variant
(missense variant +2 more)
Mitochondrial DNA depletion syndrome 1
GUncertain significance
TYMP
(L277fs)
Duplication
(frameshift variant)
Mitochondrial DNA depletion syndrome 1
GLikely pathogenic
TYMP
(V232A)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 1
GUncertain significance
LOC130067862, SCO2
+1 more
(Q370L)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial DNA depletion syndrome 1
GUncertain significance
POLG, POLGARF
(T251I +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
POLG, POLGARF
Single nucleotide variant
(intron variant)
Progressive sclerosing poliodystrophy
+5 more
GLikely benign
TYMP
Single nucleotide variant
(splice donor variant)
Mitochondrial DNA depletion syndrome 1
+1 more
GLikely pathogenic
LOC130067864, TYMP
(R79*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
POLG, POLGARF
Single nucleotide variant
(intron variant)
Progressive sclerosing poliodystrophy
+5 more
GUncertain significance
TYMP
(A60T)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 1
+1 more
GUncertain significance
POLG, POLGARF
(A1178T)
Single nucleotide variant
(missense variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
+5 more
GUncertain significance
POLG, POLGARF
(P829S)
Single nucleotide variant
(missense variant)
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
+5 more
GUncertain significance
TYMP
(E246K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
POLG, POLGARF
(E698D)
Single nucleotide variant
(missense variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
+5 more
GUncertain significance
POLG, POLGARF
Single nucleotide variant
(intron variant)
Progressive sclerosing poliodystrophy
+5 more
GConflicting classifications of pathogenicity
POLG, POLGARF
(T636R)
Single nucleotide variant
(missense variant)
Progressive sclerosing poliodystrophy
+5 more
GUncertain significance
POLG, POLGARF
(S332F)
Single nucleotide variant
(missense variant)
Progressive sclerosing poliodystrophy
+5 more
GUncertain significance
SCO2, LOC130067862
+1 more
Deletion
(inframe_deletion +2 more)
Mitochondrial DNA depletion syndrome 1
GPathogenic/Likely pathogenic
TYMP
(L270P)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely pathogenic
TYMP
(N244fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
POLG, POLGARF
(G1076D)
Single nucleotide variant
(missense variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
+6 more
GUncertain significance
TYMP
(E288K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TYMP
Single nucleotide variant
(intron variant)
Mitochondrial DNA depletion syndrome 1
GBenign
TYMP
(P7fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
POLG, POLGARF
Single nucleotide variant
(intron variant)
Progressive sclerosing poliodystrophy
+5 more
GUncertain significance
POLG, POLGARF
(G67A)
Single nucleotide variant
(missense variant)
Progressive sclerosing poliodystrophy
+5 more
GUncertain significance
POLG, POLGARF
(P753S)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 1
+5 more
GUncertain significance
POLG, POLGARF
(V646F)
Single nucleotide variant
(missense variant)
not provided
+6 more
GUncertain significance
TYMP
(E38G)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 1
GUncertain significance
LOC130067862, SCO2
+1 more
(C361R)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial DNA depletion syndrome 1
GUncertain significance
POLG, POLGARF
(L752P)
Single nucleotide variant
(missense variant)
Progressive sclerosing poliodystrophy
+6 more
GUncertain significance
POLG, POLGARF
(N134K)
Single nucleotide variant
(missense variant)
not provided
+6 more
GUncertain significance
TYMP
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GPathogenic
TYMP
(Q174*)
Single nucleotide variant
(nonsense)
Mitochondrial DNA depletion syndrome 1
+1 more
GPathogenic/Likely pathogenic
LOC130067862, TYMP
(G318R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LOC130067866, TYMP
Single nucleotide variant
(5 prime UTR variant)
Mitochondrial DNA depletion syndrome 1
GUncertain significance
TYMP
(G10R)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 1
GUncertain significance
TYMP
(G16R)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 1
+1 more
GUncertain significance
TYMP
(S65G)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 1
+1 more
GConflicting classifications of pathogenicity
LOC130067862, SCO2
+1 more
(Q461R +1 more)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial DNA depletion syndrome 1
GUncertain significance
LOC130067862, SCO2
+1 more
(A473S +1 more)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial DNA depletion syndrome 1
GUncertain significance
POLG, POLGARF
(G1051W)
Single nucleotide variant
(missense variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
+7 more
GConflicting classifications of pathogenicity
LOC130067862, TYMP
(W315*)
Single nucleotide variant
(nonsense)
Mitochondrial DNA depletion syndrome 1
+1 more
GPathogenic/Likely pathogenic
POLG, POLGARF
(L244V)
Single nucleotide variant
(missense variant)
Progressive sclerosing poliodystrophy
+5 more
GConflicting classifications of pathogenicity
TYMP
Single nucleotide variant
(splice donor variant)
Mitochondrial DNA depletion syndrome 1
+1 more
GPathogenic/Likely pathogenic
LOC130067862, SCO2
+1 more
(Q350*)
Single nucleotide variant
(nonsense +1 more)
Mitochondrial DNA depletion syndrome 1
GPathogenic
POLG, POLGARF
(G111R)
Single nucleotide variant
(missense variant)
not provided
+6 more
GUncertain significance
POLG, POLGARF
Single nucleotide variant
(intron variant)
Progressive sclerosing poliodystrophy
+5 more
GLikely benign
LOC130067862, TYMP
+1 more
(L334R)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial DNA depletion syndrome 1
GLikely pathogenic
POLG, POLGARF
(R1071C)
Single nucleotide variant
(missense variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
+5 more
GUncertain significance
TYMP
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
POLG, POLGARF
(R290H)
Single nucleotide variant
(missense variant)
not provided
+6 more
GUncertain significance
TYMP
Deletion
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
LOC130067862, TYMP
Single nucleotide variant
(splice acceptor variant)
Mitochondrial DNA depletion syndrome 1
GUncertain significance
POLG, POLGARF
(R275Q)
Single nucleotide variant
(missense variant)
Progressive sclerosing poliodystrophy
+5 more
GConflicting classifications of pathogenicity
POLG, POLGARF
(E693del)
Microsatellite
(inframe_deletion)
Progressive sclerosing poliodystrophy
+5 more
GUncertain significance
POLG, POLGARF
(Q715*)
Single nucleotide variant
(nonsense)
Mitochondrial DNA depletion syndrome 4b
+5 more
GPathogenic
POLG, POLGARF
Single nucleotide variant
(splice donor variant)
not provided
+6 more
GPathogenic/Likely pathogenic
POLG, POLGARF
Single nucleotide variant
(splice donor variant)
Mitochondrial disease
GPathogenic
POLG, POLGARF
(R1187Q)
Single nucleotide variant
(missense variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
+6 more
GUncertain significance
POLG, POLGARF
(L902V)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 1
+7 more
GUncertain significance
POLG, POLGARF
(L247V)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 1
+7 more
GUncertain significance
POLG, POLGARF
(Q144R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+7 more
GUncertain significance
POLG, POLGARF
(T690M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+7 more
GUncertain significance
POLGARF, POLG
(E557Q)
Single nucleotide variant
(missense variant)
Progressive sclerosing poliodystrophy
+6 more
GUncertain significance
LOC130067862, SCO2
+1 more
(W437fs +1 more)
Duplication
(frameshift variant +1 more)
Mitochondrial DNA depletion syndrome 1
GLikely pathogenic
SCO2, TYMP
(Q481* +1 more)
Single nucleotide variant
(nonsense +1 more)
not specified
+2 more
GUncertain significance
POLG, POLGARF
(V1106A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+6 more
GConflicting classifications of pathogenicity
TYMP
Single nucleotide variant
(intron variant)
not specified
+2 more
GConflicting classifications of pathogenicity
POLG, POLGARF
(L474I)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 1
+6 more
GUncertain significance
POLG, POLGARF
+1 more
(I1223V)
Single nucleotide variant
(missense variant +1 more)
Progressive sclerosing poliodystrophy
+8 more
GConflicting classifications of pathogenicity
POLG, POLGARF
(R1148C)
Single nucleotide variant
(missense variant)
Progressive sclerosing poliodystrophy
+7 more
GUncertain significance
POLG, POLGARF
(R628W)
Single nucleotide variant
(missense variant)
Progressive sclerosing poliodystrophy
+5 more
GUncertain significance
POLG, POLGARF
(G426S)
Single nucleotide variant
(missense variant)
Progressive sclerosing poliodystrophy
+6 more
GConflicting classifications of pathogenicity
POLG, POLGARF
(D243E)
Single nucleotide variant
(missense variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
+7 more
GUncertain significance
POLG, POLGARF
(A676V)
Single nucleotide variant
(missense variant)
Progressive sclerosing poliodystrophy
+7 more
GConflicting classifications of pathogenicity
POLG, POLGARF
(V844M)
Single nucleotide variant
(missense variant)
not provided
+6 more
GUncertain significance
POLG, POLGARF
(R823H)
Single nucleotide variant
(missense variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
+7 more
GUncertain significance
TYMP
(L255del)
Deletion
(inframe_deletion)
Mitochondrial DNA depletion syndrome 1
GPathogenic
TYMP
(S210R)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 1
GPathogenic
POLG, POLGARF
(T210I)
Single nucleotide variant
(missense variant)
Progressive sclerosing poliodystrophy
+6 more
GUncertain significance
POLG, POLGARF
(E538A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+7 more
GUncertain significance
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
+1 more
GLikely pathogenic
POLG, POLGARF
Single nucleotide variant
(splice donor variant)
not provided
+6 more
GLikely pathogenic
POLG, POLGARF
Single nucleotide variant
(synonymous variant)
Mitochondrial DNA depletion syndrome 1
+5 more
GLikely benign
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