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Links from MedGen

Items: 23

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TRIT1
(E213fs +1 more)
Deletion
(frameshift variant +1 more)
Combined oxidative phosphorylation deficiency 35
GPathogenic
TRIT1
(K309fs +2 more)
Deletion
(non-coding transcript variant +1 more)
Combined oxidative phosphorylation deficiency 35
GPathogenic
TRIT1
(H207Y +1 more)
Single nucleotide variant
(missense variant +1 more)
Combined oxidative phosphorylation deficiency 35
GUncertain significance
TRIT1
Single nucleotide variant
(splice acceptor variant)
Combined oxidative phosphorylation deficiency 35
GLikely pathogenic
TRIT1
(A329V +2 more)
Single nucleotide variant
(missense variant +1 more)
Combined oxidative phosphorylation deficiency 35
GUncertain significance
TRIT1
Single nucleotide variant
(intron variant)
Combined oxidative phosphorylation deficiency 35
GUncertain significance
TRIT1
(R241W +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
+1 more
GPathogenic/Likely pathogenic
TRIT1
(Y263C +2 more)
Single nucleotide variant
(missense variant +1 more)
Combined oxidative phosphorylation deficiency 35
GUncertain significance
TRIT1
Single nucleotide variant
(synonymous variant +1 more)
Combined oxidative phosphorylation deficiency 35
+1 more
GBenign
MYCL-AS1, TRIT1
(A6T)
Single nucleotide variant
(missense variant +1 more)
Combined oxidative phosphorylation deficiency 35
+2 more
GUncertain significance
MYCL-AS1, TRIT1
Single nucleotide variant
(synonymous variant +1 more)
Combined oxidative phosphorylation deficiency 35
+1 more
GBenign
TRIT1
(Q110* +1 more)
Single nucleotide variant
(nonsense +1 more)
Combined oxidative phosphorylation deficiency 35
GPathogenic
TRIT1
(I323T +2 more)
Single nucleotide variant
(missense variant +1 more)
Combined oxidative phosphorylation deficiency 35
GUncertain significance
TRIT1
(D97N)
Single nucleotide variant
(missense variant +2 more)
Combined oxidative phosphorylation deficiency 35
+1 more
GConflicting classifications of pathogenicity
TRIT1
(I109T)
Single nucleotide variant
(missense variant +2 more)
Macrocephaly
+2 more
GConflicting classifications of pathogenicity
TRIT1
(R112fs)
Deletion
(frameshift variant +2 more)
TRIT1 Deficiency
+3 more
GPathogenic/Likely pathogenic
TRIT1
(R323Q +1 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+1 more
GPathogenic
TRIT1
(R327* +1 more)
Single nucleotide variant
(nonsense +2 more)
not provided
+3 more
GPathogenic/Likely pathogenic
MYCL-AS1, TRIT1
(R8*)
Single nucleotide variant
(nonsense +1 more)
Combined oxidative phosphorylation deficiency 35
+2 more
GPathogenic/Likely pathogenic
TRIT1
(K286E +1 more)
Single nucleotide variant
(missense variant +1 more)
Combined oxidative phosphorylation deficiency 35
GUncertain significance
TRIT1
(R402* +2 more)
Single nucleotide variant
(nonsense +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
TRIT1
(I283S +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Combined oxidative phosphorylation deficiency 35
+1 more
GConflicting classifications of pathogenicity
TRIT1
(H419P +2 more)
Single nucleotide variant
(missense variant +1 more)
Combined oxidative phosphorylation deficiency 35
GUncertain significance
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