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Links from MedGen

Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACBD5
(S120fs +4 more)
Deletion
(frameshift variant)
Retinal dystrophy with leukodystrophy
GLikely pathogenic
ACBD5
Single nucleotide variant
(splice donor variant)
Retinal dystrophy with leukodystrophy
GUncertain significance
ACBD5
Single nucleotide variant
(5 prime UTR variant +1 more)
Retinal dystrophy with leukodystrophy
+1 more
GBenign
ACBD5
Single nucleotide variant
(intron variant)
Retinal dystrophy with leukodystrophy
+1 more
GBenign
ACBD5
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign
ACBD5
(E216G +17 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ACBD5, LOC130003557
(S48Y +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ACBD5
Copy number loss
Retinal dystrophy with leukodystrophy
GPathogenic
ACBD5
Indel
Retinal dystrophy with leukodystrophy
GPathogenic
ACBD5
(D252N +17 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ACBD5
Single nucleotide variant
(splice donor variant)
Retinal dystrophy with leukodystrophy
GPathogenic
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