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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MMADHC
(R248C)
Single nucleotide variant
(missense variant)
Methylmalonic aciduria and homocystinuria type cblD
+1 more
GUncertain significance
MMADHC
Single nucleotide variant
(intron variant)
Methylmalonic aciduria and homocystinuria type cblD
GUncertain significance
MMADHC
(T152R)
Single nucleotide variant
(missense variant)
Methylmalonic aciduria and homocystinuria type cblD
GUncertain significance
MMADHC
(A104V)
Single nucleotide variant
(missense variant)
Methylmalonic aciduria and homocystinuria type cblD
+1 more
GUncertain significance
MMADHC
(K29N)
Single nucleotide variant
(missense variant)
Disorders of Intracellular Cobalamin Metabolism
+3 more
GBenign/Likely benign
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