U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MMAB
(Q234*)
Single nucleotide variant
(nonsense +1 more)
not provided
+2 more
GPathogenic
MMAB
(Y219C)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
MMAB
(R191Q)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GPathogenic
MMAB
(R191W)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GPathogenic
MMAB
(R190H)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GPathogenic/Likely pathogenic
MMAB
(R190C)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
MMAB
(R186W)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GPathogenic/Likely pathogenic
MMAB
(A135T)
Single nucleotide variant
(missense variant +1 more)
not specified
+3 more
GConflicting classifications of pathogenicity
MMAB
Single nucleotide variant
(splice acceptor variant)
Methylmalonic acidemia
+2 more
GPathogenic
MMAB
(I96T)
Single nucleotide variant
(missense variant +1 more)
Methylmalonic aciduria, cblB type
GPathogenic
MMAB
Single nucleotide variant
(splice acceptor variant)
Methylmalonic acidemia
+1 more
GPathogenic
Format
Items per page
Sort by
Choose Destination