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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABCD4
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
+1 more
GBenign
ABCD4
(E368K +7 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GBenign/Likely benign
ABCD4
Single nucleotide variant
(synonymous variant +1 more)
not specified
+2 more
GBenign
ABCD4
(A304T +7 more)
Single nucleotide variant
(missense variant +1 more)
Methylmalonic acidemia with homocystinuria, type cblJ
+2 more
GBenign
ABCD4
Single nucleotide variant
(synonymous variant +3 more)
Methylmalonic acidemia with homocystinuria, type cblJ
+2 more
GBenign
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