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Links from Gene

Items: 1 to 100 of 471

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SUCLA2
(V31A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SUCLA2
(Q46L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SUCLA2
(N276S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SUCLA2
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
SUCLA2
(I151M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SUCLA2
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
SUCLA2
(E234Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC130009747, SUCLA2
(L16V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SUCLA2
(V370fs)
Duplication
(frameshift variant)
not provided
GPathogenic
ITM2B, MED4
+2 more
Deletion
not provided
GUncertain significance
SUCLA2
Deletion
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
GUncertain significance
SUCLA2
Deletion
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
GPathogenic
ITM2B, LPAR6
+4 more
Deletion
Retinoblastoma
GPathogenic
SUCLA2
(K216E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SUCLA2
(V155I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SUCLA2
(S4Y)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SUCLA2
(S34R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SUCLA2
(I334T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AKAP11, ALG11
+117 more
Copy number gain
not specified
GPathogenic
ALG11, ARL11
+77 more
Copy number loss
not specified
GPathogenic
SUCLA2
Single nucleotide variant
(synonymous variant)
SUCLA2-related disorder
GLikely benign
SUCLA2
Single nucleotide variant
(synonymous variant)
SUCLA2-related disorder
GLikely benign
SUCLA2
Single nucleotide variant
(synonymous variant)
SUCLA2-related disorder
GLikely benign
SUCLA2
Single nucleotide variant
(synonymous variant)
SUCLA2-related disorder
GLikely benign
SUCLA2
Single nucleotide variant
(synonymous variant)
SUCLA2-related disorder
GLikely benign
SUCLA2
Single nucleotide variant
(synonymous variant)
SUCLA2-related disorder
GLikely benign
SUCLA2
Single nucleotide variant
(synonymous variant)
SUCLA2-related disorder
GLikely benign
SUCLA2
Single nucleotide variant
(synonymous variant)
SUCLA2-related disorder
GLikely benign
ITM2B, KBTBD6
+119 more
Copy number loss
not provided
GPathogenic
SUCLA2
Single nucleotide variant
(synonymous variant)
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
GLikely benign
SUCLA2
Single nucleotide variant
(intron variant)
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
GLikely benign
SUCLA2
Single nucleotide variant
(synonymous variant)
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
GLikely benign
SUCLA2
Single nucleotide variant
(intron variant)
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
GLikely benign
SUCLA2
Single nucleotide variant
(synonymous variant)
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
GLikely benign
SUCLA2
Single nucleotide variant
(intron variant)
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
GLikely benign
SUCLA2
Single nucleotide variant
(synonymous variant)
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
GLikely benign
SUCLA2
Single nucleotide variant
(intron variant)
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
GLikely benign
SUCLA2
Single nucleotide variant
(intron variant)
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
GLikely benign
SUCLA2
(L64del)
Microsatellite
(inframe_deletion)
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
GUncertain significance
SUCLA2
Single nucleotide variant
(synonymous variant)
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
GLikely benign
SUCLA2
Single nucleotide variant
(synonymous variant)
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
GLikely benign
SUCLA2
Single nucleotide variant
(synonymous variant)
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
GLikely benign
SUCLA2
Single nucleotide variant
(synonymous variant)
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
GLikely benign
SUCLA2
Single nucleotide variant
(intron variant)
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
GLikely benign
SUCLA2
Single nucleotide variant
(synonymous variant)
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
GLikely benign
SUCLA2
Single nucleotide variant
(intron variant)
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
GLikely benign
SUCLA2
Single nucleotide variant
(synonymous variant)
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
GLikely benign
SUCLA2
(S444P)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
GUncertain significance
SUCLA2
Single nucleotide variant
(synonymous variant)
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
GLikely benign
SUCLA2
Single nucleotide variant
(synonymous variant)
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
GLikely benign
SUCLA2
Single nucleotide variant
(synonymous variant)
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
GLikely benign
SUCLA2
Single nucleotide variant
(synonymous variant)
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
GLikely benign
SUCLA2
Single nucleotide variant
(intron variant)
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
GLikely benign
SUCLA2
Single nucleotide variant
(intron variant)
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
GLikely benign
SUCLA2
Single nucleotide variant
(synonymous variant)
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
GLikely benign
SUCLA2
Single nucleotide variant
(intron variant)
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
GLikely benign
SUCLA2
Single nucleotide variant
(synonymous variant)
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
GLikely benign
SUCLA2
Single nucleotide variant
(splice acceptor variant)
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
GLikely pathogenic
LOC130009747, SUCLA2
Deletion
(intron variant)
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
GLikely benign
SUCLA2
(K148E)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
GUncertain significance
LOC130009747, SUCLA2
(R26Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SUCLA2
(M1T)
Single nucleotide variant
(missense variant +1 more)
SUCLA2-related disorder
GUncertain significance
SUCLA2
(E256Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SUCLA2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SUCLA2
(I255V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SUCLA2
Single nucleotide variant
(splice donor variant)
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
GPathogenic
SUCLA2
(S113N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SUCLA2
(I381V)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
GUncertain significance
SUCLA2
(C152Y)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
GUncertain significance
ITM2B, LPAR6
+5 more
Duplication
not provided
GUncertain significance
SUCLA2
Deletion
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
GPathogenic
SUCLA2
(I318V)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
GUncertain significance
SUCLA2
(S186P)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
+1 more
GUncertain significance
SUCLA2
(Y250C)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
GUncertain significance
SUCLA2
(S113R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SUCLA2
(K225E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SUCLA2
(R164G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SUCLA2
(S235L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SUCLA2
(K306R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SUCLA2
Single nucleotide variant
(intron variant)
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
GLikely benign
SUCLA2
Single nucleotide variant
(synonymous variant)
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
GLikely benign
SUCLA2
Single nucleotide variant
(intron variant)
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
GLikely benign
SUCLA2
(Q49H)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
GUncertain significance
SUCLA2
(P207R)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
GUncertain significance
SUCLA2
(S70F)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
GUncertain significance
SUCLA2
Single nucleotide variant
(synonymous variant)
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
+1 more
GLikely benign
SUCLA2
(V96del)
Deletion
(inframe_deletion)
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
GUncertain significance
LOC130009747, SUCLA2
Single nucleotide variant
(intron variant)
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
GLikely benign
SUCLA2
(K73E)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
GUncertain significance
SUCLA2
(M5V)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
GUncertain significance
SUCLA2
Single nucleotide variant
(synonymous variant)
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
GLikely benign
SUCLA2
(D414N)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
GUncertain significance
SUCLA2
Deletion
(intron variant)
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
GLikely benign
SUCLA2
Single nucleotide variant
(synonymous variant)
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
GLikely benign
SUCLA2
(D333G)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
GPathogenic/Likely pathogenic
SUCLA2
(Y7*)
Single nucleotide variant
(nonsense)
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
GPathogenic
SUCLA2
Single nucleotide variant
(intron variant)
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
GUncertain significance
SUCLA2
Single nucleotide variant
(intron variant)
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
GLikely benign
SUCLA2
Single nucleotide variant
(intron variant)
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
GLikely benign
SUCLA2
Single nucleotide variant
(intron variant)
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
GLikely benign
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