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Items: 15

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MMAA
(R22*)
Single nucleotide variant
(nonsense)
Methylmalonic acidemia
+2 more
GPathogenic
MMAA
(W54*)
Single nucleotide variant
(nonsense)
Methylmalonic aciduria, cblA type
GPathogenic/Likely pathogenic
MMAA
(L89P)
Single nucleotide variant
(missense variant)
Methylmalonic aciduria, cblA type
GPathogenic/Likely pathogenic
MMAA
(Q95*)
Single nucleotide variant
(nonsense)
Methylmalonic acidemia
+1 more
GPathogenic
MMAA
(Q120*)
Single nucleotide variant
(nonsense)
Methylmalonic aciduria, cblA type
GPathogenic
MMAA
(Q133*)
Single nucleotide variant
(nonsense)
Methylmalonic aciduria, cblA type
GPathogenic
MMAA
(R145*)
Single nucleotide variant
(nonsense)
MMAA-related condition
+4 more
GPathogenic/Likely pathogenic
MMAA
(T168fs)
Deletion
(frameshift variant)
Methylmalonic aciduria, cblA type
GPathogenic
MMAA
(G188R)
Single nucleotide variant
(missense variant)
Methylmalonic aciduria, cblA type
GLikely pathogenic
MMAA
(T198fs)
Deletion
(frameshift variant)
not provided
+2 more
GPathogenic
MMAA
(L217*)
Single nucleotide variant
(nonsense)
Methylmalonic acidemia
+1 more
GPathogenic/Likely pathogenic
MMAA
(G218E)
Single nucleotide variant
(missense variant)
Methylmalonic acidemia
GLikely pathogenic
MMAA
Single nucleotide variant
(splice donor variant)
Methylmalonic aciduria, cblA type
GPathogenic/Likely pathogenic
MMAA
(R330*)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic
MMAA
(R359Q)
Single nucleotide variant
(missense variant)
Methylmalonic aciduria, cblA type
GPathogenic
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