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Items: 20

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CLPB
(I682N +3 more)
Single nucleotide variant
(missense variant)
3-methylglutaconic aciduria, type VIIB
Gnot provided
CLPB
(C588fs +3 more)
Duplication
(frameshift variant)
3-methylglutaconic aciduria, type VIIB
Gnot provided
CLPB
(G646V +3 more)
Single nucleotide variant
(missense variant)
3-methylglutaconic aciduria, type VIIB
GPathogenic
CLPB
(E639K +3 more)
Single nucleotide variant
(missense variant)
3-methylglutaconic aciduria, type VIIB
Gnot provided
CLPB
(R628C +3 more)
Single nucleotide variant
(missense variant)
3-methylglutaconic aciduria, type VIIB
+2 more
GConflicting classifications of pathogenicity
CLPB
(Y617C +3 more)
Single nucleotide variant
(missense variant)
3-methylglutaconic aciduria, type VIIB
GPathogenic
CLPB
(A591V +3 more)
Single nucleotide variant
(missense variant)
3-methylglutaconic aciduria, type VIIB
GPathogenic
CLPB
(Y567C +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CLPB
(I503fs +3 more)
Deletion
(frameshift variant)
3-methylglutaconic aciduria, type VIIB
GPathogenic
CLPB
(E501K +3 more)
Single nucleotide variant
(missense variant)
3-methylglutaconic aciduria, type VIIB
GUncertain significance
CLPB
(C486R +3 more)
Single nucleotide variant
(missense variant)
3-methylglutaconic aciduria, type VIIB
Gnot provided
CLPB, LOC126861258
Inversion
(missense variant)
3-methylglutaconic aciduria, type VIIB
GPathogenic
CLPB, LOC126861258
(R417* +3 more)
Single nucleotide variant
(nonsense)
Neutropenia, severe congenital, 9, autosomal dominant
+3 more
GPathogenic
CLPB, LOC126861258
(M411I +3 more)
Single nucleotide variant
(missense variant)
3-methylglutaconic aciduria, type VIIB
+2 more
GConflicting classifications of pathogenicity
CLPB, LOC126861258
(R408G +3 more)
Single nucleotide variant
(missense variant)
Neutropenia, severe congenital, 9, autosomal dominant
+4 more
GPathogenic/Likely pathogenic
CLPB
(K321* +3 more)
Single nucleotide variant
(nonsense)
3-methylglutaconic aciduria, type VIIB
GPathogenic
CLPB
(Y272C +3 more)
Single nucleotide variant
(missense variant)
3-methylglutaconic aciduria, type VIIB
GUncertain significance
CLPB
(A269T +3 more)
Single nucleotide variant
(missense variant)
3-methylglutaconic aciduria, type VIIB
GUncertain significance
CLPB
(T268M +3 more)
Single nucleotide variant
(missense variant)
CLPB-related condition
+1 more
GPathogenic/Likely pathogenic
CLPB
(R250* +3 more)
Single nucleotide variant
(nonsense)
3-methylglutaconic aciduria, type VIIB
GPathogenic
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