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Links from MedGen

Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FLAD1
(C440S +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
FLAD1
(R129H +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
FLAD1
(E167fs +2 more)
Deletion
(frameshift variant)
Myopathy with abnormal lipid metabolism
GPathogenic
FLAD1
Single nucleotide variant
(synonymous variant)
Myopathy with abnormal lipid metabolism
+1 more
GBenign/Likely benign
FLAD1
(C136* +2 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
FLAD1
(F35fs +2 more)
Microsatellite
(frameshift variant)
Myopathy with abnormal lipid metabolism
+1 more
GPathogenic
FLAD1
(A176fs +2 more)
Indel
(frameshift variant)
Multiple acyl-CoA dehydrogenase deficiency
GPathogenic
FLAD1
(F180fs +2 more)
Deletion
(frameshift variant)
Multiple acyl-CoA dehydrogenase deficiency
GPathogenic
FLAD1
(R530C +1 more)
Single nucleotide variant
(missense variant)
Multiple acyl-CoA dehydrogenase deficiency
+2 more
GPathogenic/Likely pathogenic
FLAD1
(V191fs +2 more)
Duplication
(frameshift variant)
Multiple acyl-CoA dehydrogenase deficiency
GPathogenic
FLAD1
(S495del +1 more)
Deletion
(inframe_deletion)
Multiple acyl-CoA dehydrogenase deficiency
GPathogenic
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