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Links from MedGen

Items: 87

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IFNGR1
Single nucleotide variant
(splice donor variant)
Immunodeficiency 27A
GLikely pathogenic
IFNGR1
(P284L +2 more)
Single nucleotide variant
(missense variant)
Mycobacterium tuberculosis, susceptibility to
+4 more
GUncertain significance
IFNGR1
(I240V +2 more)
Single nucleotide variant
(missense variant)
Immunodeficiency 27A
GUncertain significance
IFNGR1
Single nucleotide variant
(synonymous variant)
Immunodeficiency 27A
GUncertain significance
IFNGR1
(I364V +2 more)
Single nucleotide variant
(missense variant)
Immunodeficiency 27A
GUncertain significance
IFNGR1
(S386L +2 more)
Single nucleotide variant
(missense variant)
Disseminated atypical mycobacterial infection
+1 more
GUncertain significance
IFNGR1
(C418R +2 more)
Single nucleotide variant
(missense variant)
Immunodeficiency 27A
GUncertain significance
IFNGR1
Single nucleotide variant
(3 prime UTR variant)
Immunodeficiency 27A
GBenign
IFNGR1
Single nucleotide variant
(synonymous variant)
Immunodeficiency 27A
GUncertain significance
IFNGR1
(I131M +2 more)
Single nucleotide variant
(missense variant)
Immunodeficiency 27A
GUncertain significance
IFNGR1
(D119N +2 more)
Single nucleotide variant
(missense variant)
Disseminated atypical mycobacterial infection
+1 more
GUncertain significance
IFNGR1
Single nucleotide variant
(3 prime UTR variant)
Immunodeficiency 27A
GUncertain significance
IFNGR1
Single nucleotide variant
(3 prime UTR variant)
Immunodeficiency 27A
GUncertain significance
IFNGR1
Single nucleotide variant
(3 prime UTR variant)
Immunodeficiency 27A
GLikely benign
IFNGR1
(V205I +2 more)
Single nucleotide variant
(missense variant)
Immunodeficiency 27A
GUncertain significance
IFNGR1
Single nucleotide variant
(3 prime UTR variant)
Immunodeficiency 27A
GUncertain significance
IFNGR1
Single nucleotide variant
(3 prime UTR variant)
Immunodeficiency 27A
GUncertain significance
IFNGR1
Single nucleotide variant
(3 prime UTR variant)
Immunodeficiency 27A
GUncertain significance
IFNGR1
Single nucleotide variant
(5 prime UTR variant)
Immunodeficiency 27A
GUncertain significance
IFNGR1
Single nucleotide variant
(5 prime UTR variant)
Immunodeficiency 27A
GUncertain significance
IFNGR1
Single nucleotide variant
(5 prime UTR variant)
Immunodeficiency 27A
GUncertain significance
IFNGR1
(I202M +2 more)
Single nucleotide variant
(missense variant)
Immunodeficiency 27A
+1 more
GUncertain significance
IFNGR1
(V264I +2 more)
Single nucleotide variant
(missense variant)
Immunodeficiency 27A
+1 more
GUncertain significance
MTFR2, PDE7B
+8 more
Deletion
Immunodeficiency 27A
GPathogenic
IFNGR1
(V118fs +2 more)
Deletion
(frameshift variant)
Immunodeficiency 27A
GPathogenic
IFNGR1
(W89R +2 more)
Single nucleotide variant
(missense variant)
Immunodeficiency 27A
GLikely pathogenic
IFNGR1
Deletion
(splice acceptor variant)
Immunodeficiency 27A
GPathogenic
IFNGR1
Deletion
(intron variant)
Immunodeficiency 27A
GUncertain significance
IFNGR1
Single nucleotide variant
(intron variant)
Immunodeficiency 27A
GLikely pathogenic
IFNGR1
(V14M)
Single nucleotide variant
(missense variant)
Disseminated atypical mycobacterial infection
+1 more
GConflicting classifications of pathogenicity
IFNGR1
(H181Y +2 more)
Single nucleotide variant
(missense variant)
Disseminated atypical mycobacterial infection
+1 more
GUncertain significance
IFNGR1
(T148K +2 more)
Single nucleotide variant
(missense variant)
Immunodeficiency 27A
+5 more
GUncertain significance
IFNGR1
(E156K +2 more)
Single nucleotide variant
(missense variant)
Immunodeficiency 27A
+1 more
GConflicting classifications of pathogenicity
IFNGR1
(W89C +2 more)
Single nucleotide variant
(missense variant)
Immunodeficiency 27A
GUncertain significance
IFNGR1
Single nucleotide variant
(intron variant)
Immunodeficiency 27A
+2 more
GBenign/Likely benign
IFNGR1
(G219R +2 more)
Single nucleotide variant
(missense variant)
Immunodeficiency 27A
GUncertain significance
IFNGR1
(H222R +2 more)
Single nucleotide variant
(missense variant)
Immunodeficiency 27A
+5 more
GUncertain significance
IFNGR1
(K232E +2 more)
Single nucleotide variant
(missense variant)
Immunodeficiency 27A
+1 more
GUncertain significance
IFNGR1
(N79S +2 more)
Single nucleotide variant
(missense variant)
Disseminated atypical mycobacterial infection
+1 more
GUncertain significance
IFNGR1
(V61I +2 more)
Single nucleotide variant
(missense variant)
Immunodeficiency 27A
+2 more
GBenign/Likely benign
IFNGR1
Single nucleotide variant
(synonymous variant)
Disseminated atypical mycobacterial infection
+1 more
GConflicting classifications of pathogenicity
IFNGR1
Single nucleotide variant
(synonymous variant)
Disseminated atypical mycobacterial infection
+3 more
GConflicting classifications of pathogenicity
IL12RB1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
IFNGR2
Single nucleotide variant
(synonymous variant)
Immunodeficiency 28
+1 more
GLikely benign
IFNGR1
Single nucleotide variant
Immunodeficiency 27A
GBenign
IFNGR1
Single nucleotide variant
(5 prime UTR variant)
Disseminated atypical mycobacterial infection
+2 more
GBenign
IFNGR1
Single nucleotide variant
(synonymous variant)
Disseminated atypical mycobacterial infection
+1 more
GBenign
IFNGR1
Single nucleotide variant
(synonymous variant)
Disseminated atypical mycobacterial infection
+1 more
GUncertain significance
IFNGR1
Single nucleotide variant
(intron variant)
Disseminated atypical mycobacterial infection
+3 more
GBenign
IFNGR1
(R123Q +2 more)
Single nucleotide variant
(missense variant)
Immunodeficiency 27A
GUncertain significance
IFNGR1
(E164K +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
IFNGR1
Single nucleotide variant
(synonymous variant)
Disseminated atypical mycobacterial infection
+1 more
GBenign
IFNGR1
Single nucleotide variant
(synonymous variant)
Disseminated atypical mycobacterial infection
+1 more
GConflicting classifications of pathogenicity
IFNGR1
(Q199R +2 more)
Single nucleotide variant
(missense variant)
Immunodeficiency 27A
GUncertain significance
IFNGR1
Single nucleotide variant
(synonymous variant)
Immunodeficiency 27A
+1 more
GConflicting classifications of pathogenicity
IFNGR1
Single nucleotide variant
(intron variant)
Disseminated atypical mycobacterial infection
+2 more
GBenign
IFNGR1
Single nucleotide variant
(synonymous variant)
Disseminated atypical mycobacterial infection
+2 more
GBenign
IFNGR1
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign/Likely benign
IFNGR1
(L467P +2 more)
Single nucleotide variant
(missense variant)
Disseminated atypical mycobacterial infection
+1 more
GBenign
IFNGR1
Single nucleotide variant
(3 prime UTR variant)
Immunodeficiency 27A
GLikely benign
IFNGR1
Single nucleotide variant
(3 prime UTR variant)
Immunodeficiency 27A
GLikely benign
IFNGR1
Single nucleotide variant
(3 prime UTR variant)
Immunodeficiency 27A
GBenign
IFNGR1
Single nucleotide variant
(3 prime UTR variant)
Immunodeficiency 27A
GBenign
IFNGR1
Single nucleotide variant
(3 prime UTR variant)
Immunodeficiency 27A
GUncertain significance
IFNGR1
Single nucleotide variant
(3 prime UTR variant)
Immunodeficiency 27A
GUncertain significance
IL12RB1
(R156H +1 more)
Single nucleotide variant
(missense variant)
Immunodeficiency 27A
+2 more
GBenign/Likely benign
IL12RB1
(Q214R +1 more)
Single nucleotide variant
(missense variant)
Immunodeficiency 27A
+2 more
GBenign/Likely benign
IL12RB1
Single nucleotide variant
(intron variant)
IL12RB1-related disorder
+2 more
GBenign/Likely benign
IFNGR1
(Y134fs +2 more)
Deletion
(frameshift variant)
Disseminated atypical mycobacterial infection
+4 more
GConflicting classifications of pathogenicity
IFNGR2
(I156L +1 more)
Single nucleotide variant
(missense variant)
Immunodeficiency 27A
+2 more
GBenign/Likely benign
IFNGR1
(G180R +2 more)
Single nucleotide variant
(missense variant)
IFNGR1-related disorder
+3 more
GBenign/Likely benign
IFNGR1
(H345R +2 more)
Single nucleotide variant
(missense variant)
Disseminated atypical mycobacterial infection
+1 more
GUncertain significance
IFNGR1
Single nucleotide variant
(3 prime UTR variant)
Immunodeficiency 27A
GUncertain significance
IFNGR1
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign/Likely benign
IFNGR1
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GBenign/Likely benign
IFNGR1
(H335P +2 more)
Single nucleotide variant
(missense variant)
Immunodeficiency 27A
+7 more
GBenign/Likely benign
IFNGR1
(M1K)
Single nucleotide variant
(missense variant +1 more)
Immunodeficiency 27A
GPathogenic
IFNGR1
(E218del +2 more)
Deletion
(inframe_deletion)
Disseminated atypical mycobacterial infection
+1 more
GUncertain significance
IFNGR1
(V61E +2 more)
Single nucleotide variant
(missense variant)
Immunodeficiency 27A
GPathogenic
IFNGR1
(C77Y +2 more)
Single nucleotide variant
(missense variant)
Immunodeficiency 27A
GPathogenic
IFNGR1
Deletion
(inframe_deletion)
Immunodeficiency 27A
GPathogenic
IFNGR1
(N233fs +2 more)
Deletion
(frameshift variant)
Disseminated atypical mycobacterial infection
+7 more
GPathogenic
IFNGR1
Single nucleotide variant
(splice donor variant)
Immunodeficiency 27A
GPathogenic
IFNGR1
(I37fs +1 more)
Duplication
(frameshift variant +1 more)
Immunodeficiency 27A
GPathogenic
IFNGR1
(I87T +2 more)
Single nucleotide variant
(missense variant)
Immunodeficiency 27A
+2 more
GPathogenic/Likely pathogenic
IFNGR1
(P34fs +2 more)
Deletion
(frameshift variant)
Immunodeficiency 27A
GPathogenic
IFNGR1
(S149* +2 more)
Single nucleotide variant
(nonsense)
Immunodeficiency 27A
GPathogenic
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