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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MMADHC
(R216G)
Single nucleotide variant
(missense variant)
MMADHC-related condition
+4 more
GConflicting classifications of pathogenicity
MMADHC
Deletion
(intron variant)
Methylmalonic aciduria and homocystinuria type cblD
+3 more
GConflicting classifications of pathogenicity
MMADHC
Single nucleotide variant
(synonymous variant)
MMADHC-related condition
+2 more
GConflicting classifications of pathogenicity
MMADHC
(V193A)
Single nucleotide variant
(missense variant)
Methylmalonic aciduria and homocystinuria type cblD
+3 more
GConflicting classifications of pathogenicity
MMADHC
(Q124L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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