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Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130060311, TTC19
(P49L)
Single nucleotide variant
(5 prime UTR variant +1 more)
Mitochondrial complex III deficiency nuclear type 2
+1 more
GConflicting classifications of pathogenicity
TTC19
(R102G)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+2 more
GUncertain significance
TTC19
(E114Q +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TTC19
(K172Q +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TTC19
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
TTC19
(G201fs +1 more)
Deletion
(frameshift variant)
not provided
GPathogenic
TTC19
(A149T +1 more)
Single nucleotide variant
(missense variant)
Mitochondrial complex III deficiency nuclear type 2
GUncertain significance
TTC19
(A263S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
TTC19
(R274G +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
TTC19
(I300L +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TTC19
(R304T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
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