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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GCDH
(Y123C)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
GCDH
(M191R)
Single nucleotide variant
(missense variant +1 more)
Glutaric aciduria, type 1
GLikely pathogenic
GCDH
(R313Q)
Single nucleotide variant
(missense variant +1 more)
Glutaric aciduria, type 1
GPathogenic/Likely pathogenic
GCDH
Deletion
(inframe_deletion +1 more)
Glutaric aciduria, type 1
GUncertain significance
GCDH
(M366I)
Single nucleotide variant
(missense variant +1 more)
Glutaric aciduria, type 1
+1 more
GUncertain significance
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