U.S. flag

An official website of the United States government

Format
Sort by
Choose Destination

Search results

Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABCD4
(R471W +7 more)
Single nucleotide variant
(missense variant +1 more)
Methylmalonic acidemia with homocystinuria, type cblJ
+1 more
GConflicting classifications of pathogenicity
ABCD4
(L122F +1 more)
Single nucleotide variant
(missense variant +3 more)
Methylmalonic acidemia with homocystinuria, type cblJ
GUncertain significance
ABCD4
(R121H +1 more)
Single nucleotide variant
(missense variant +3 more)
not provided
+2 more
GUncertain significance
ABCD4
Single nucleotide variant
(synonymous variant +3 more)
not provided
+2 more
GBenign/Likely benign
ABCD4
(A7V)
Single nucleotide variant
(missense variant +2 more)
Methylmalonic acidemia with homocystinuria, type cblJ
GUncertain significance
Format
Sort by
Choose Destination