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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
JAGN1
(M1I)
Single nucleotide variant
(5 prime UTR variant +2 more)
Severe congenital neutropenia
+2 more
GConflicting classifications of pathogenicity
JAGN1
Deletion
(5 prime UTR variant +1 more)
Severe congenital neutropenia
+1 more
GConflicting classifications of pathogenicity
JAGN1
(G14S)
Single nucleotide variant
(5 prime UTR variant +1 more)
Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
+1 more
GConflicting classifications of pathogenicity
JAGN1
(R20Q)
Single nucleotide variant
(5 prime UTR variant +1 more)
Severe congenital neutropenia
+1 more
GConflicting classifications of pathogenicity
JAGN1
(E21D)
Single nucleotide variant
(5 prime UTR variant +1 more)
Severe congenital neutropenia
+2 more
GConflicting classifications of pathogenicity
JAGN1
(H44Y)
Single nucleotide variant
(5 prime UTR variant +1 more)
Severe congenital neutropenia
+2 more
GConflicting classifications of pathogenicity
JAGN1
(Y99* +1 more)
Single nucleotide variant
(nonsense)
Severe congenital neutropenia
GPathogenic
JAGN1
(Q162R +1 more)
Single nucleotide variant
(missense variant)
Severe congenital neutropenia
GPathogenic
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