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Items: 14

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MMACHC
Single nucleotide variant
(5 prime UTR variant +1 more)
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE, DIGENIC
GPathogenic
MMACHC
(L53P)
Single nucleotide variant
(5 prime UTR variant +1 more)
Cobalamin C disease
+1 more
GConflicting classifications of pathogenicity
MMACHC
(R91fs +1 more)
Duplication
(frameshift variant)
not specified
+5 more
GPathogenic
MMACHC
Single nucleotide variant
(synonymous variant)
Cobalamin C disease
GPathogenic/Likely pathogenic
MMACHC
(E92D +1 more)
Single nucleotide variant
(missense variant)
Cobalamin C disease
GPathogenic
MMACHC
(R111* +1 more)
Single nucleotide variant
(nonsense)
Cobalamin C disease
+1 more
GPathogenic
MMACHC
(L116P +1 more)
Single nucleotide variant
(missense variant)
Cobalamin C disease
GPathogenic/Likely pathogenic
MMACHC
(R132* +1 more)
Single nucleotide variant
(nonsense)
Cobalamin C disease
+3 more
GPathogenic
MMACHC
(G155E +1 more)
Single nucleotide variant
(missense variant)
Cobalamin C disease
GPathogenic
MMACHC
(R161Q +1 more)
Single nucleotide variant
(missense variant)
Cobalamin C disease
+2 more
GPathogenic
LOC129930446, MMACHC
(W203* +1 more)
Single nucleotide variant
(nonsense)
Cobalamin C disease
+1 more
GPathogenic
LOC129930446, MMACHC
(K220del +1 more)
Deletion
(inframe_deletion)
not provided
+1 more
GPathogenic
MMACHC, PRDX1
Single nucleotide variant
(3 prime UTR variant +1 more)
Cobalamin C disease
+1 more
GPathogenic
MMACHC, PRDX1
Single nucleotide variant
(3 prime UTR variant +1 more)
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE, DIGENIC
GPathogenic
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