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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MTFMT
(S209L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+10 more
GPathogenic
MTFMT
(F58I)
Single nucleotide variant
(missense variant)
not provided
GBenign
MTFMT
(R49fs)
Deletion
(frameshift variant)
not provided
GPathogenic/Likely pathogenic
MTFMT
(R7G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
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