U.S. flag

An official website of the United States government

Format
Sort by
Choose Destination

Search results

Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DNASE1L1, LOC130068869
+1 more
(P10R)
Single nucleotide variant
(missense variant +2 more)
3-Methylglutaconic aciduria type 2
+2 more
GUncertain significance
TAFAZZIN
(Y51* +1 more)
Single nucleotide variant
(nonsense +1 more)
3-Methylglutaconic aciduria type 2
GPathogenic
TAFAZZIN
(E52K +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
TAFAZZIN
(G116D +1 more)
Single nucleotide variant
(missense variant +1 more)
Primary dilated cardiomyopathy
+1 more
GConflicting classifications of pathogenicity
TAFAZZIN
(L138V +1 more)
Single nucleotide variant
(missense variant +1 more)
3-Methylglutaconic aciduria type 2
GUncertain significance
Format
Sort by
Choose Destination