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Links from MedGen

Items: 97

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TSFM
Deletion
(nonsense)
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
GLikely pathogenic
TSFM
(K47*)
Single nucleotide variant
(nonsense)
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
GLikely pathogenic
TSFM
(L266fs +1 more)
Duplication
(3 prime UTR variant +2 more)
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
GLikely pathogenic
TSFM
(L182fs +1 more)
Deletion
(frameshift variant +1 more)
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
GLikely pathogenic
TSFM
(S2*)
Single nucleotide variant
(nonsense)
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
+1 more
GPathogenic/Likely pathogenic
TSFM
(G210fs +1 more)
Insertion
(3 prime UTR variant +2 more)
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
GLikely pathogenic
TSFM
(R39fs)
Duplication
(frameshift variant)
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
GLikely pathogenic
TSFM
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GLikely pathogenic
TSFM
(L75fs)
Deletion
(frameshift variant)
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
GLikely pathogenic
TSFM
(W204* +1 more)
Single nucleotide variant
(nonsense +2 more)
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
GLikely pathogenic
TSFM
(G162S +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
TSFM
(R25fs)
Deletion
(frameshift variant)
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
GLikely pathogenic
TSFM
(V128fs)
Deletion
(frameshift variant)
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
GLikely pathogenic
TSFM
(S270fs +1 more)
Deletion
(3 prime UTR variant +2 more)
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
GLikely pathogenic
TSFM
Single nucleotide variant
(splice acceptor variant +1 more)
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
GLikely pathogenic
TSFM
(L266fs +1 more)
Indel
(3 prime UTR variant +2 more)
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
GLikely pathogenic
TSFM
(W81*)
Single nucleotide variant
(nonsense)
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
GUncertain significance
TSFM
(C64*)
Single nucleotide variant
(nonsense)
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
GLikely pathogenic
TSFM
(D184fs +1 more)
Deletion
(frameshift variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
TSFM
(I107M)
Single nucleotide variant
(missense variant)
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
GUncertain significance
TSFM
(C240S +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
+1 more
GConflicting classifications of pathogenicity
TSFM
(K84*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
TSFM
(Q87*)
Single nucleotide variant
(nonsense)
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
+1 more
GPathogenic/Likely pathogenic
TSFM
(R222fs +1 more)
Duplication
(frameshift variant +2 more)
not provided
+1 more
GPathogenic/Likely pathogenic
TSFM
(Q258H +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
GLikely pathogenic
TSFM
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GLikely pathogenic
TSFM
(F10fs)
Microsatellite
(frameshift variant)
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
+1 more
GPathogenic/Likely pathogenic
TSFM
Single nucleotide variant
(splice donor variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
TSFM
(E250* +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
GPathogenic
TSFM
(G277fs +1 more)
Deletion
(3 prime UTR variant +2 more)
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
GUncertain significance
TSFM
(G90D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
AVIL, TSFM
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+1 more
GBenign
AVIL, TSFM
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+1 more
GBenign
TSFM
Microsatellite
(splice donor variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TSFM
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TSFM
(Q135*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
TSFM
(Q26*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
TSFM
(Q29*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
TSFM
(R201* +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
+1 more
GPathogenic
AVIL, TSFM
Single nucleotide variant
(3 prime UTR variant +1 more)
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
GUncertain significance
TSFM
Single nucleotide variant
(3 prime UTR variant +1 more)
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
GUncertain significance
TSFM
Single nucleotide variant
(3 prime UTR variant +1 more)
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
GUncertain significance
TSFM
Single nucleotide variant
(3 prime UTR variant +1 more)
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
GUncertain significance
TSFM
Single nucleotide variant
(3 prime UTR variant +1 more)
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
GUncertain significance
TSFM
(G108R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TSFM
(K47R)
Single nucleotide variant
(missense variant)
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
+1 more
GUncertain significance
TSFM
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TSFM
Single nucleotide variant
(3 prime UTR variant +1 more)
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
GUncertain significance
TSFM
Single nucleotide variant
(3 prime UTR variant +1 more)
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
GUncertain significance
TSFM
Single nucleotide variant
(3 prime UTR variant +1 more)
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
GUncertain significance
TSFM
Single nucleotide variant
(3 prime UTR variant +1 more)
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
GUncertain significance
TSFM
(M284L +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
+2 more
GUncertain significance
TSFM
(K133fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
TSFM
(Q324fs +1 more)
Deletion
(3 prime UTR variant +2 more)
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
+1 more
GLikely pathogenic
TSFM
(L207* +1 more)
Single nucleotide variant
(nonsense +1 more)
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
+1 more
GPathogenic/Likely pathogenic
TSFM
(R54Q)
Single nucleotide variant
(missense variant)
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
+1 more
GUncertain significance
TSFM
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
TSFM
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
TSFM
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TSFM
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TSFM
(S2L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
TSFM
(L287H +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
TSFM-related disorder
+2 more
GConflicting classifications of pathogenicity
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
GLikely pathogenic
TSFM
(S236F +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
+2 more
GUncertain significance
AVIL, TSFM
Single nucleotide variant
(3 prime UTR variant +1 more)
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
GBenign
AVIL, TSFM
Single nucleotide variant
(3 prime UTR variant +1 more)
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
GBenign
AVIL, TSFM
Single nucleotide variant
(3 prime UTR variant +1 more)
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
GUncertain significance
TSFM
Single nucleotide variant
(3 prime UTR variant +1 more)
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
GUncertain significance
TSFM
Single nucleotide variant
(3 prime UTR variant +1 more)
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
GUncertain significance
TSFM
Single nucleotide variant
(3 prime UTR variant +1 more)
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
GUncertain significance
TSFM
Single nucleotide variant
(3 prime UTR variant +1 more)
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
GUncertain significance
TSFM
Single nucleotide variant
(3 prime UTR variant +1 more)
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
GUncertain significance
TSFM
Single nucleotide variant
(3 prime UTR variant +1 more)
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
GUncertain significance
TSFM
Single nucleotide variant
(3 prime UTR variant +1 more)
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
GUncertain significance
TSFM
Single nucleotide variant
(synonymous variant +2 more)
TSFM-related disorder
+2 more
GConflicting classifications of pathogenicity
TSFM
(D293H +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GUncertain significance
TSFM
(R275C +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+2 more
GConflicting classifications of pathogenicity
TSFM
(V251L +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
+3 more
GUncertain significance
TSFM
(G201A +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
TSFM
(A174S +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
TSFM
Single nucleotide variant
(intron variant)
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
+1 more
GConflicting classifications of pathogenicity
TSFM
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TSFM
Single nucleotide variant
(synonymous variant)
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
GUncertain significance
TSFM
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TSFM
(W91G)
Single nucleotide variant
(missense variant)
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
+1 more
GLikely benign
TSFM
Single nucleotide variant
(intron variant)
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
GUncertain significance
TSFM
Single nucleotide variant
(synonymous variant)
TSFM-related disorder
+3 more
GConflicting classifications of pathogenicity
TSFM
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
TSFM
(L287I +1 more)
Single nucleotide variant
(missense variant +2 more)
TSFM-related disorder
+2 more
GBenign/Likely benign
TSFM
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TSFM
(C315Y +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
+1 more
GLikely pathogenic
TSFM
(Q286* +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
+1 more
GPathogenic/Likely pathogenic
TSFM
Single nucleotide variant
(synonymous variant)
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
+2 more
GConflicting classifications of pathogenicity
TSFM
Single nucleotide variant
(intron variant)
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
+2 more
GConflicting classifications of pathogenicity
TSFM
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign/Likely benign
TSFM
(V273I +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
TSFM-related disorder
+3 more
GBenign/Likely benign
TSFM
(R333W +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
+2 more
GPathogenic
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