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Items: 16

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABCD4
(P544L +4 more)
Single nucleotide variant
(missense variant +3 more)
ABCD4-related disorder
+2 more
GBenign
ABCD4
Single nucleotide variant
(intron variant)
ABCD4-related disorder
GLikely benign
ABCD4
Single nucleotide variant
(synonymous variant +1 more)
ABCD4-related disorder
+1 more
GLikely benign
ABCD4
Single nucleotide variant
(intron variant)
not specified
+2 more
GLikely benign
ABCD4
Single nucleotide variant
(splice donor variant)
ABCD4-related disorder
GUncertain significance
ABCD4
(E368K +7 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GBenign/Likely benign
ABCD4
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GLikely benign
ABCD4
(R348W +7 more)
Single nucleotide variant
(missense variant +1 more)
Methylmalonic acidemia with homocystinuria, type cblJ
+2 more
GBenign
ABCD4
Single nucleotide variant
(synonymous variant +1 more)
not specified
+1 more
GBenign
ABCD4
(A304T +7 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GBenign
ABCD4
(R251C +6 more)
Single nucleotide variant
(missense variant +2 more)
ABCD4-related disorder
+2 more
GConflicting classifications of pathogenicity
ABCD4
Deletion
(intron variant)
ABCD4-related disorder
+2 more
GBenign
ABCD4
Single nucleotide variant
(synonymous variant +3 more)
Methylmalonic acidemia with homocystinuria, type cblJ
+2 more
GLikely benign
ABCD4
Single nucleotide variant
(intron variant)
ABCD4-related disorder
GLikely benign
ABCD4
Single nucleotide variant
(synonymous variant +3 more)
not specified
+1 more
GBenign
ABCD4
Single nucleotide variant
(synonymous variant +2 more)
ABCD4-related disorder
GLikely benign
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