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Links from MedGen

Items: 62

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TUFM
(L168I)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation defect type 4
GUncertain significance
TUFM
Single nucleotide variant
(intron variant)
Combined oxidative phosphorylation defect type 4
+1 more
GBenign
TUFM
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
TUFM
(L34V)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation defect type 4
GUncertain significance
TUFM
(A188T)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation defect type 4
GUncertain significance
LOC130058735, TUFM
(M4I)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation defect type 4
GUncertain significance
TUFM
(R56G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
TUFM
Single nucleotide variant
(3 prime UTR variant)
Combined oxidative phosphorylation defect type 4
GUncertain significance
TUFM
Single nucleotide variant
(3 prime UTR variant)
Combined oxidative phosphorylation defect type 4
GUncertain significance
TUFM
(N157S)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation defect type 4
+1 more
GUncertain significance
TUFM
Single nucleotide variant
(intron variant)
Combined oxidative phosphorylation defect type 4
GUncertain significance
TUFM
Single nucleotide variant
(3 prime UTR variant)
Combined oxidative phosphorylation defect type 4
GUncertain significance
TUFM
Single nucleotide variant
(3 prime UTR variant)
Combined oxidative phosphorylation defect type 4
GUncertain significance
TUFM
(M194T)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation defect type 4
GUncertain significance
TUFM
(E199Q)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation defect type 4
GUncertain significance
TUFM
(T207P)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation defect type 4
+2 more
GConflicting classifications of pathogenicity
LOC130058735, TUFM
Single nucleotide variant
(5 prime UTR variant)
Combined oxidative phosphorylation defect type 4
GUncertain significance
TUFM
(A267V)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation defect type 4
GUncertain significance
TUFM
Single nucleotide variant
(synonymous variant)
Combined oxidative phosphorylation defect type 4
GUncertain significance
TUFM
Single nucleotide variant
(synonymous variant)
Combined oxidative phosphorylation defect type 4
GUncertain significance
TUFM
Single nucleotide variant
(intron variant)
Combined oxidative phosphorylation defect type 4
+1 more
GConflicting classifications of pathogenicity
TUFM
(R330P +1 more)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation defect type 4
GLikely pathogenic
LOC130058735, TUFM
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TUFM
Single nucleotide variant
(synonymous variant)
Combined oxidative phosphorylation defect type 4
+2 more
GConflicting classifications of pathogenicity
TUFM
Deletion
(nonsense)
Combined oxidative phosphorylation defect type 4
GPathogenic
TUFM
(L147H)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation defect type 4
GPathogenic
LOC130058735, TUFM
Single nucleotide variant
(5 prime UTR variant)
not provided
+1 more
GBenign
LOC130058735, TUFM
Single nucleotide variant
(5 prime UTR variant)
Combined oxidative phosphorylation defect type 4
GUncertain significance
LOC130058735, TUFM
Single nucleotide variant
(5 prime UTR variant)
Combined oxidative phosphorylation defect type 4
GUncertain significance
LOC130058735, TUFM
(M1V)
Single nucleotide variant
(missense variant +1 more)
Combined oxidative phosphorylation defect type 4
GUncertain significance
TUFM
Single nucleotide variant
(intron variant)
Combined oxidative phosphorylation defect type 4
GUncertain significance
TUFM
(G143S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
TUFM
Single nucleotide variant
(intron variant)
Combined oxidative phosphorylation defect type 4
+1 more
GConflicting classifications of pathogenicity
TUFM
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
TUFM
(Q190*)
Single nucleotide variant
(nonsense)
Combined oxidative phosphorylation defect type 4
GUncertain significance
TUFM
Single nucleotide variant
(intron variant)
not specified
+2 more
GConflicting classifications of pathogenicity
TUFM
Single nucleotide variant
(synonymous variant)
Combined oxidative phosphorylation defect type 4
+1 more
GConflicting classifications of pathogenicity
TUFM
(A254T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TUFM
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
TUFM
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
TUFM
Single nucleotide variant
(intron variant)
Combined oxidative phosphorylation defect type 4
GUncertain significance
TUFM
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TUFM
Single nucleotide variant
(3 prime UTR variant)
Combined oxidative phosphorylation defect type 4
+1 more
GBenign
TUFM
Single nucleotide variant
(3 prime UTR variant)
Combined oxidative phosphorylation defect type 4
GUncertain significance
TUFM
Single nucleotide variant
(3 prime UTR variant)
Combined oxidative phosphorylation defect type 4
GUncertain significance
TUFM
Single nucleotide variant
(3 prime UTR variant)
Combined oxidative phosphorylation defect type 4
GUncertain significance
TUFM
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
TUFM
Single nucleotide variant
(3 prime UTR variant)
Combined oxidative phosphorylation defect type 4
GUncertain significance
TUFM
Single nucleotide variant
(3 prime UTR variant)
Combined oxidative phosphorylation defect type 4
GUncertain significance
TUFM
Single nucleotide variant
(3 prime UTR variant)
Combined oxidative phosphorylation defect type 4
GUncertain significance
TUFM
Single nucleotide variant
(3 prime UTR variant)
Combined oxidative phosphorylation defect type 4
GUncertain significance
TUFM
Single nucleotide variant
(3 prime UTR variant)
Combined oxidative phosphorylation defect type 4
GUncertain significance
TUFM
Single nucleotide variant
(3 prime UTR variant)
Combined oxidative phosphorylation defect type 4
+1 more
GConflicting classifications of pathogenicity
LOC130058735, TUFM
(A12G)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
TUFM
(K450E +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
TUFM
(N431S +1 more)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation defect type 4
+2 more
GConflicting classifications of pathogenicity
TUFM
(E208K)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
TUFM
(V374M +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TUFM
Single nucleotide variant
(synonymous variant)
Combined oxidative phosphorylation defect type 4
+2 more
GBenign
TUFM
Single nucleotide variant
(intron variant)
Combined oxidative phosphorylation defect type 4
+2 more
GBenign/Likely benign
TUFM
Single nucleotide variant
(intron variant)
Combined oxidative phosphorylation defect type 4
+2 more
GBenign/Likely benign
TUFM
(R339Q +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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