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Items: 21

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IL2RG, LOC126863274
(N31fs)
Deletion
(frameshift variant)
X-linked severe combined immunodeficiency
GPathogenic
RIPK1
(C601Y +2 more)
Single nucleotide variant
(missense variant)
Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome
+1 more
GPathogenic
RIPK1
(M318fs +2 more)
Deletion
(frameshift variant)
Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome
+2 more
GPathogenic/Likely pathogenic
RIPK1
(Y426* +2 more)
Single nucleotide variant
(nonsense)
Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome
+1 more
GPathogenic
RIPK1
(T645M +2 more)
Single nucleotide variant
(missense variant)
Immunodeficiency 57
+2 more
GConflicting classifications of pathogenicity
RIPK1
(I615T +2 more)
Single nucleotide variant
(missense variant)
Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome
+1 more
GPathogenic
TGFB1
(C387R)
Single nucleotide variant
(missense variant)
Inflammatory bowel disease, immunodeficiency, and encephalopathy
GLikely pathogenic
TGFB1, LOC130064510
(R110C)
Single nucleotide variant
(missense variant)
Inflammatory bowel disease, immunodeficiency, and encephalopathy
GLikely pathogenic
LOC130064510, TGFB1
(R45C)
Single nucleotide variant
(missense variant)
Inflammatory bowel disease, immunodeficiency, and encephalopathy
GLikely pathogenic
Severe congenital neutropenia
GPathogenic
CARMIL2
Single nucleotide variant
(splice donor variant)
Combined immunodeficiency
+1 more
GPathogenic
CARMIL2
(A164fs)
Duplication
(frameshift variant)
Combined immunodeficiency
+1 more
GPathogenic
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)
Severe congenital neutropenia
+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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