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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)
Helicobacter pylori infection, 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)
Immunodeficiency 27A
+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)
Immunodeficiency 27A
+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
BCLAF1, IFNGR1
+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)
Immunodeficiency 27A
+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)
not provided
+2 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
+3 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)
Disseminated atypical mycobacterial infection
+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)
Disseminated atypical mycobacterial infection
+1 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)
Immunodeficiency 27A
+3 more
GConflicting classifications of pathogenicity
IL12RB1
Single nucleotide variant
(synonymous variant)
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
+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)
Immunodeficiency 27A
+2 more
GBenign
IFNGR1
Single nucleotide variant
(synonymous variant)
Immunodeficiency 27A
+1 more
GBenign
IFNGR1
Single nucleotide variant
(synonymous variant)
Immunodeficiency 27A
+1 more
GUncertain significance
IFNGR1
Single nucleotide variant
(intron variant)
Immunodeficiency 27A
+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)
Immunodeficiency 27A
+3 more
GUncertain significance
IFNGR1
Single nucleotide variant
(synonymous variant)
Immunodeficiency 27A
+1 more
GBenign
IFNGR1
Single nucleotide variant
(synonymous variant)
Immunodeficiency 27A
+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)
Immunodeficiency 27A
+2 more
GBenign
IFNGR1
Single nucleotide variant
(synonymous variant)
Immunodeficiency 27A
+2 more
GBenign
IFNGR1
Single nucleotide variant
(synonymous variant)
Disseminated atypical mycobacterial infection
+2 more
GBenign/Likely benign
IFNGR1
(L467P +2 more)
Single nucleotide variant
(missense variant)
Immunodeficiency 27A
+1 more
GBenign
IFNGR1
Single nucleotide variant
(3 prime UTR variant)
Immunodeficiency 27A
+1 more
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)
not specified
+3 more
GBenign/Likely benign
IL12RB1
(Q214R +1 more)
Single nucleotide variant
(missense variant)
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
+3 more
GBenign/Likely benign
IL12RB1
Single nucleotide variant
(intron variant)
Immunodeficiency 27A
+2 more
GBenign/Likely benign
IFNGR1
(Y134fs +2 more)
Deletion
(frameshift variant)
not provided
+3 more
GPathogenic
IFNGR2
(I156L +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
IFNGR1
(G180R +2 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GBenign/Likely benign
IFNGR1
(H345R +2 more)
Single nucleotide variant
(missense variant)
Immunodeficiency 27A
+1 more
GUncertain significance
IFNGR1
Single nucleotide variant
(3 prime UTR variant)
Immunodeficiency 27A
GUncertain significance
IFNGR1
Single nucleotide variant
(synonymous variant)
Interferon gamma receptor deficiency
+3 more
GBenign/Likely benign
IFNGR1
Single nucleotide variant
(synonymous variant)
Interferon gamma receptor deficiency
+3 more
GBenign/Likely benign
IFNGR1
(H335P +2 more)
Single nucleotide variant
(missense variant)
Interferon gamma receptor deficiency
+7 more
GBenign/Likely benign
IFNGR1
(M1K)
Single nucleotide variant
(missense variant +1 more)
Immunodeficiency 27A
GPathogenic
IFNGR1
(E218del +2 more)
Deletion
(inframe_deletion)
Immunodeficiency 27A
+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)
Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
+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)
not provided
+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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