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Items: 2

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
(V119M +1 more)
Single nucleotide variant
(missense variant +1 more)
Left ventricular noncompaction cardiomyopathy
GLikely pathogenic