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Links from MedGen

Items: 35

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HAX1
(Q153* +1 more)
Single nucleotide variant
(nonsense)
Severe congenital neutropenia
GLikely pathogenic
HAX1
Single nucleotide variant
(splice donor variant)
Kostmann syndrome
+1 more
GLikely pathogenic
CSF3R
(Q114*)
Single nucleotide variant
(nonsense)
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
GPathogenic
CSF3R
Single nucleotide variant
(splice donor variant)
Severe congenital neutropenia
GLikely pathogenic
SRPRA
(Q436E +1 more)
Single nucleotide variant
(missense variant)
Shwachman-Diamond syndrome 1
+1 more
GPathogenic
SRP19
Single nucleotide variant
(intron variant)
Shwachman-Diamond syndrome 1
+1 more
GPathogenic
FCHO1
(R600* +1 more)
Single nucleotide variant
(nonsense)
Immunodeficiency with T and B cell lymphopenia
GPathogenic
FCHO1
Single nucleotide variant
(non-coding transcript variant +1 more)
Severe congenital neutropenia
+1 more
GPathogenic
FCHO1
Single nucleotide variant
(splice donor variant)
Severe congenital neutropenia
GPathogenic
FCHO1
(V625fs +1 more)
Duplication
(frameshift variant)
Immunodeficiency 76
+1 more
GPathogenic
FCHO1
(A34P)
Single nucleotide variant
(missense variant +2 more)
Immunodeficiency 76
+1 more
GPathogenic
FCHO1
(R629P +8 more)
Single nucleotide variant
(missense variant +1 more)
Immunodeficiency 76
+1 more
GPathogenic
Severe congenital neutropenia
GPathogenic
HAX1
(E31fs)
Deletion
(frameshift variant +1 more)
Severe congenital neutropenia
+2 more
GPathogenic/Likely pathogenic
G6PC3
Microsatellite
(3 prime UTR variant)
Severe congenital neutropenia
GUncertain significance
G6PC3
Single nucleotide variant
(5 prime UTR variant +1 more)
Severe congenital neutropenia
GUncertain significance
GFI1
Microsatellite
(intron variant)
Severe congenital neutropenia
+1 more
GConflicting classifications of pathogenicity
GFI1
Microsatellite
(intron variant)
Severe congenital neutropenia
+2 more
GConflicting classifications of pathogenicity
GFI1
Microsatellite
(intron variant)
not provided
+3 more
GBenign/Likely benign
GFI1
Microsatellite
(intron variant)
Severe congenital neutropenia
+2 more
GConflicting classifications of pathogenicity
GFI1
Microsatellite
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
GFI1
Microsatellite
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
GFI1
Microsatellite
(intron variant)
Severe congenital neutropenia
+1 more
GConflicting classifications of pathogenicity
GFI1
Microsatellite
(intron variant)
Neutropenia, severe congenital, 2, autosomal dominant
+2 more
GConflicting classifications of pathogenicity
GFI1
Microsatellite
(intron variant)
not provided
+3 more
GConflicting classifications of pathogenicity
HAX1, LOC129931498
Deletion
(5 prime UTR variant)
Severe congenital neutropenia
GLikely benign
JAGN1
(Y99* +1 more)
Single nucleotide variant
(nonsense)
Severe congenital neutropenia
GPathogenic
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
CSF3R
(R308C)
Single nucleotide variant
(missense variant)
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
+1 more
GPathogenic/Likely pathogenic
JAGN1
Deletion
(5 prime UTR variant +1 more)
Severe congenital neutropenia
+1 more
GConflicting classifications of pathogenicity
JAGN1
(Q162R +1 more)
Single nucleotide variant
(missense variant)
Severe congenital neutropenia
GPathogenic
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)
not provided
+2 more
GConflicting classifications of pathogenicity
JAGN1
(M1I)
Single nucleotide variant
(5 prime UTR variant +2 more)
Severe congenital neutropenia
+2 more
GConflicting classifications of pathogenicity
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