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Links from MedGen

Items: 1 to 100 of 246

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SUCLG1
Single nucleotide variant
(synonymous variant)
Mitochondrial DNA depletion syndrome 9
GLikely benign
SUCLG1
Single nucleotide variant
(intron variant)
Mitochondrial DNA depletion syndrome 9
GLikely benign
SUCLG1
Single nucleotide variant
(splice donor variant)
Mitochondrial DNA depletion syndrome 9
GLikely pathogenic
SUCLG1
Single nucleotide variant
(intron variant)
Mitochondrial DNA depletion syndrome 9
GLikely benign
SUCLG1
Microsatellite
(intron variant)
Mitochondrial DNA depletion syndrome 9
GLikely benign
SUCLG1
Single nucleotide variant
(synonymous variant)
Mitochondrial DNA depletion syndrome 9
GLikely benign
SUCLG1
Single nucleotide variant
(synonymous variant)
Mitochondrial DNA depletion syndrome 9
GLikely benign
SUCLG1
Single nucleotide variant
(splice acceptor variant)
Mitochondrial DNA depletion syndrome 9
GLikely pathogenic
SUCLG1
Single nucleotide variant
(synonymous variant)
Mitochondrial DNA depletion syndrome 9
GLikely benign
SUCLG1
Single nucleotide variant
(synonymous variant)
Mitochondrial DNA depletion syndrome 9
GLikely benign
SUCLG1
Microsatellite
(intron variant)
Mitochondrial DNA depletion syndrome 9
GLikely benign
SUCLG1
Single nucleotide variant
(synonymous variant)
Mitochondrial DNA depletion syndrome 9
GLikely benign
SUCLG1
Single nucleotide variant
(intron variant)
Mitochondrial DNA depletion syndrome 9
GLikely benign
SUCLG1
Single nucleotide variant
(intron variant)
Mitochondrial DNA depletion syndrome 9
GLikely benign
SUCLG1
(G309A)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 9
GUncertain significance
SUCLG1
Single nucleotide variant
(synonymous variant)
Mitochondrial DNA depletion syndrome 9
GLikely benign
SUCLG1
Single nucleotide variant
(synonymous variant)
Mitochondrial DNA depletion syndrome 9
GLikely benign
SUCLG1
Single nucleotide variant
(intron variant)
Mitochondrial DNA depletion syndrome 9
GLikely benign
SUCLG1
Single nucleotide variant
(intron variant)
Mitochondrial DNA depletion syndrome 9
GLikely benign
SUCLG1
(V120G)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 9
GUncertain significance
SUCLG1
(I183S)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 9
GUncertain significance
SUCLG1
(E264*)
Single nucleotide variant
(nonsense)
Mitochondrial DNA depletion syndrome 9
GLikely pathogenic
SUCLG1
Duplication
Mitochondrial DNA depletion syndrome 9
GUncertain significance
SUCLG1
(L222S)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 9
GUncertain significance
SUCLG1
(V282I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
SUCLG1
(T335M)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 9
GUncertain significance
SUCLG1
Single nucleotide variant
(synonymous variant)
Mitochondrial DNA depletion syndrome 9
GLikely benign
SUCLG1
(A132V)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 9
GUncertain significance
SUCLG1
Single nucleotide variant
(intron variant)
Mitochondrial DNA depletion syndrome 9
GUncertain significance
SUCLG1
Single nucleotide variant
(intron variant)
Mitochondrial DNA depletion syndrome 9
GLikely benign
SUCLG1
Single nucleotide variant
(synonymous variant)
Mitochondrial DNA depletion syndrome 9
GLikely benign
SUCLG1
(Q73L)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 9
+1 more
GUncertain significance
SUCLG1
Single nucleotide variant
(intron variant)
Mitochondrial DNA depletion syndrome 9
GLikely benign
SUCLG1
(T13I)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 9
GUncertain significance
SUCLG1
(A9S)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 9
GUncertain significance
SUCLG1
(S18G)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 9
GUncertain significance
SUCLG1
Single nucleotide variant
(synonymous variant)
Mitochondrial DNA depletion syndrome 9
GLikely benign
SUCLG1
Single nucleotide variant
(synonymous variant)
Mitochondrial DNA depletion syndrome 9
GLikely benign
SUCLG1
Single nucleotide variant
(synonymous variant)
Mitochondrial DNA depletion syndrome 9
GLikely benign
SUCLG1
Single nucleotide variant
(synonymous variant)
Mitochondrial DNA depletion syndrome 9
GLikely benign
SUCLG1
(I253V)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 9
GUncertain significance
SUCLG1
(Y51C)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 9
GUncertain significance
SUCLG1
Single nucleotide variant
(synonymous variant)
Mitochondrial DNA depletion syndrome 9
GLikely benign
SUCLG1
(C60S)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 9
GUncertain significance
SUCLG1
Single nucleotide variant
(intron variant)
Mitochondrial DNA depletion syndrome 9
GUncertain significance
SUCLG1
Single nucleotide variant
(synonymous variant)
Mitochondrial DNA depletion syndrome 9
GLikely benign
SUCLG1
Single nucleotide variant
(splice acceptor variant)
Mitochondrial DNA depletion syndrome 9
GLikely pathogenic
SUCLG1
(D151H)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 9
GUncertain significance
SUCLG1
Single nucleotide variant
(synonymous variant)
Mitochondrial DNA depletion syndrome 9
GLikely benign
SUCLG1
(A128D)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 9
GUncertain significance
SUCLG1
Single nucleotide variant
(synonymous variant)
Mitochondrial DNA depletion syndrome 9
GLikely benign
SUCLG1
Single nucleotide variant
(synonymous variant)
Mitochondrial DNA depletion syndrome 9
GLikely benign
SUCLG1
(A12S)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 9
GUncertain significance
SUCLG1
(F231S)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 9
+1 more
GUncertain significance
SUCLG1
(I129V)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 9
GUncertain significance
SUCLG1
Single nucleotide variant
(intron variant)
Mitochondrial DNA depletion syndrome 9
GLikely benign
SUCLG1
Single nucleotide variant
(synonymous variant)
Mitochondrial DNA depletion syndrome 9
GLikely benign
SUCLG1
(N232D)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 9
GUncertain significance
SUCLG1
Single nucleotide variant
(intron variant)
Mitochondrial DNA depletion syndrome 9
GUncertain significance
SUCLG1
(H95R)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 9
GUncertain significance
SUCLG1
Single nucleotide variant
(intron variant)
Mitochondrial DNA depletion syndrome 9
GLikely benign
SUCLG1
Single nucleotide variant
(synonymous variant)
Mitochondrial DNA depletion syndrome 9
GUncertain significance
SUCLG1
(P230S)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 9
GUncertain significance
SUCLG1
(G91E)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 9
GUncertain significance
SUCLG1
(A6V)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 9
GUncertain significance
SUCLG1
(R201G)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 9
GUncertain significance
SUCLG1
(M1L)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial DNA depletion syndrome 9
GUncertain significance
SUCLG1
(H40R)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 9
GLikely benign
SUCLG1
Single nucleotide variant
(synonymous variant)
Mitochondrial DNA depletion syndrome 9
GLikely benign
SUCLG1
(A22V)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 9
GUncertain significance
SUCLG1
Single nucleotide variant
(synonymous variant)
Mitochondrial DNA depletion syndrome 9
GLikely benign
SUCLG1
Single nucleotide variant
(intron variant)
Mitochondrial DNA depletion syndrome 9
GUncertain significance
SUCLG1
Single nucleotide variant
(synonymous variant)
Mitochondrial DNA depletion syndrome 9
GLikely benign
SUCLG1
Single nucleotide variant
(synonymous variant)
Mitochondrial DNA depletion syndrome 9
GLikely benign
SUCLG1
(A317P)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 9
GUncertain significance
SUCLG1
Single nucleotide variant
(synonymous variant)
Mitochondrial DNA depletion syndrome 9
GLikely benign
SUCLG1
Single nucleotide variant
(intron variant)
Mitochondrial DNA depletion syndrome 9
GLikely benign
SUCLG1
Deletion
(intron variant)
Mitochondrial DNA depletion syndrome 9
GLikely benign
SUCLG1
(G188A)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 9
GUncertain significance
SUCLG1
Single nucleotide variant
(synonymous variant)
Mitochondrial DNA depletion syndrome 9
GLikely benign
SUCLG1
(G65N)
Indel
(missense variant)
Mitochondrial DNA depletion syndrome 9
GUncertain significance
SUCLG1
Single nucleotide variant
(synonymous variant)
Mitochondrial DNA depletion syndrome 9
GLikely benign
SUCLG1
Single nucleotide variant
(intron variant)
Mitochondrial DNA depletion syndrome 9
GLikely benign
SUCLG1
Single nucleotide variant
(intron variant)
Mitochondrial DNA depletion syndrome 9
GUncertain significance
SUCLG1
(I183M)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 9
GUncertain significance
SUCLG1
(N130S)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 9
GUncertain significance
SUCLG1
Single nucleotide variant
(intron variant)
Mitochondrial DNA depletion syndrome 9
GLikely benign
SUCLG1
(R154Q)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 9
GUncertain significance
SUCLG1
Single nucleotide variant
(intron variant)
Mitochondrial DNA depletion syndrome 9
GLikely benign
SUCLG1
(L33V)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 9
GUncertain significance
SUCLG1
Single nucleotide variant
(intron variant)
Mitochondrial DNA depletion syndrome 9
GLikely benign
SUCLG1
Single nucleotide variant
(synonymous variant)
Mitochondrial DNA depletion syndrome 9
GLikely benign
SUCLG1
Deletion
(intron variant)
Mitochondrial DNA depletion syndrome 9
GLikely benign
SUCLG1
Single nucleotide variant
(intron variant)
Mitochondrial DNA depletion syndrome 9
GLikely benign
SUCLG1
(H211Y)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 9
GUncertain significance
SUCLG1
(L240R)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 9
GConflicting classifications of pathogenicity
SUCLG1
(I137V)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 9
GUncertain significance
SUCLG1
(N171S)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 9
GUncertain significance
SUCLG1
(V153E)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 9
GPathogenic
SUCLG1
(Q215*)
Single nucleotide variant
(nonsense)
Mitochondrial DNA depletion syndrome 9
GPathogenic
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