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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
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
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