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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LARS2
(Q147P)
Single nucleotide variant
(missense variant)
Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome
+1 more
GLikely pathogenic
LARS2
(R228H)
Single nucleotide variant
(missense variant)
Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome
+1 more
GLikely pathogenic
LARS2, LARS2-AS1
(P536L)
Single nucleotide variant
(missense variant)
Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome
+1 more
GLikely pathogenic
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