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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MMAB
(C132R)
Single nucleotide variant
(missense variant +1 more)
Methylmalonic aciduria, cblB type
+2 more
GConflicting classifications of pathogenicity
MMAB
(E74D)
Single nucleotide variant
(missense variant +1 more)
Methylmalonic aciduria, cblB type
GUncertain significance
MMAB, MVK
(R19H)
Single nucleotide variant
(missense variant +1 more)
not provided
+5 more
GBenign
MMAB, MVK
(R15C)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
MMAB, MVK
(S52N)
Single nucleotide variant
(missense variant)
not specified
+6 more
GBenign/Likely benign
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