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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MMACHC
(R91fs +1 more)
Duplication
(frameshift variant)
MMACHC-related condition
+5 more
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)
cblC type of combined methylmalonic aciduria and homocystinuria
+3 more
GPathogenic
MMACHC
(G147A +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GPathogenic/Likely pathogenic
MMACHC
(R161Q +1 more)
Single nucleotide variant
(missense variant)
MMACHC-related condition
+3 more
GPathogenic
LOC129930446, MMACHC
(W203* +1 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
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