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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126806147, LPIN1
(T255K +6 more)
Single nucleotide variant
(missense variant +1 more)
Myoglobinuria, acute recurrent, autosomal recessive
+1 more
GConflicting classifications of pathogenicity
LOC126806147, LPIN1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity