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Items: 26

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GCDH, LOC117125594
(L66del)
Deletion
(inframe_deletion +1 more)
Glutaric aciduria, type 1
GLikely pathogenic
GCDH, LOC117125594
(R68T)
Single nucleotide variant
(missense variant +1 more)
Glutaric aciduria, type 1
GConflicting classifications of pathogenicity
GCDH
(R88S)
Single nucleotide variant
(missense variant +1 more)
Glutaric aciduria, type 1
GPathogenic/Likely pathogenic
GCDH
(R94Q)
Single nucleotide variant
(missense variant +1 more)
Glutaric aciduria, type 1
+1 more
GPathogenic/Likely pathogenic
GCDH
(S119L)
Single nucleotide variant
(missense variant +1 more)
Glutaric aciduria, type 1
+1 more
GConflicting classifications of pathogenicity
GCDH
(R128Q)
Single nucleotide variant
(non-coding transcript variant +1 more)
Glutaric aciduria, type 1
GPathogenic/Likely pathogenic
GCDH
(R161Q)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
GCDH
(G178R)
Single nucleotide variant
(missense variant +1 more)
Glutaric aciduria, type 1
GPathogenic/Likely pathogenic
GCDH
(M191T)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
GCDH
(T214M)
Single nucleotide variant
(missense variant +1 more)
Glutaric aciduria, type 1
+1 more
GPathogenic/Likely pathogenic
GCDH
(S216L)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GConflicting classifications of pathogenicity
GCDH
(W225*)
Single nucleotide variant
(nonsense +1 more)
Glutaric aciduria, type 1
GPathogenic/Likely pathogenic
GCDH
(R227P)
Single nucleotide variant
(missense variant +1 more)
Glutaric aciduria, type 1
+1 more
GPathogenic
GCDH
(R257Q)
Single nucleotide variant
(missense variant +1 more)
Glutaric aciduria, type 1
+1 more
GPathogenic
GCDH
(A293T)
Single nucleotide variant
(missense variant +1 more)
Glutaric aciduria, type 1
+1 more
GPathogenic
GCDH
(R313W)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
GCDH
(G354S)
Single nucleotide variant
(missense variant +1 more)
Glutaric aciduria, type 1
GPathogenic/Likely pathogenic
GCDH
(E365K)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic
GCDH
(R386*)
Single nucleotide variant
(nonsense +1 more)
Hypomyelinating leukodystrophy 2
+2 more
GPathogenic
GCDH
(G390R)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
GCDH
(E397K)
Single nucleotide variant
(missense variant +1 more)
Glutaric aciduria, type 1
GUncertain significance
GCDH
(V400M)
Single nucleotide variant
(missense variant +1 more)
Glutaric aciduria, type 1
+2 more
GPathogenic
GCDH
(R402W)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+4 more
GPathogenic/Likely pathogenic
GCDH
(E414K)
Single nucleotide variant
(missense variant +1 more)
GCDH-related disorder
+2 more
GPathogenic
GCDH, LOC126862860
+1 more
Single nucleotide variant
(splice acceptor variant +1 more)
not provided
+1 more
GPathogenic
GCDH, LOC126862860
+1 more
(A421T)
Single nucleotide variant
(missense variant +2 more)
Glutaric aciduria, type 1
+1 more
GConflicting classifications of pathogenicity
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