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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MMAB
(R190C)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
MMAB
(R186W)
Single nucleotide variant
(missense variant +1 more)
Methylmalonic acidemia
+3 more
GPathogenic/Likely pathogenic
MMAB
(S174L)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
MMAB, MVK
(G5D)
Single nucleotide variant
(missense variant +1 more)
Methylmalonic aciduria, cblB type
+1 more
GUncertain significance
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