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Links from MedGen

Items: 50

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AP4B1-AS1, PTPN22
Single nucleotide variant
(splice donor variant)
Rheumatoid arthritis
GUncertain significance
CIITA
(G176R +4 more)
Single nucleotide variant
(missense variant +1 more)
Rheumatoid arthritis
GUncertain significance
CIITA
(R791G +4 more)
Single nucleotide variant
(missense variant +1 more)
MHC class II deficiency
+1 more
GUncertain significance
CIITA
(P162S +4 more)
Single nucleotide variant
(missense variant +1 more)
MHC class II deficiency
+1 more
GUncertain significance
CIITA
(Y743F +4 more)
Single nucleotide variant
(missense variant +1 more)
Rheumatoid arthritis
+1 more
GUncertain significance
CIITA
(P273L +4 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
CIITA
Single nucleotide variant
(synonymous variant +1 more)
Rheumatoid arthritis
+1 more
GUncertain significance
CIITA
(S360L +5 more)
Single nucleotide variant
(missense variant +1 more)
Rheumatoid arthritis
+1 more
GUncertain significance
CIITA
(A806V +4 more)
Single nucleotide variant
(missense variant +1 more)
MHC class II deficiency
+1 more
GUncertain significance
TLR1
(C442R)
Single nucleotide variant
(missense variant)
Rheumatoid arthritis
GPathogenic
TLR1
(I679T)
Single nucleotide variant
(missense variant)
Rheumatoid arthritis
GPathogenic
CHRNG
(R332W)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
PADI4
(G112A)
Single nucleotide variant
(missense variant)
PADI4-related disorder
GBenign
PADI4
Single nucleotide variant
(synonymous variant)
PADI4-related disorder
GBenign
PADI4
(V82A)
Single nucleotide variant
(missense variant)
PADI4-related disorder
GBenign
PADI4
(G55S)
Single nucleotide variant
(missense variant)
PADI4-related disorder
GBenign
PADI2
Single nucleotide variant
(intron variant)
Rheumatoid arthritis
+1 more
Gassociation
PADI2
Single nucleotide variant
(synonymous variant)
Rheumatoid arthritis
+1 more
Gassociation
PADI2
Single nucleotide variant
(intron variant)
Rheumatoid arthritis
+1 more
Gassociation
PADI2
Single nucleotide variant
(3 prime UTR variant)
Rheumatoid arthritis
+1 more
Gassociation
CIITA
(R624C +4 more)
Single nucleotide variant
(missense variant +1 more)
MHC class II deficiency
+1 more
GUncertain significance
CIITA
(R1017H +5 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
CIITA
(E656K +4 more)
Single nucleotide variant
(missense variant +1 more)
MHC class II deficiency
+1 more
GUncertain significance
CIITA
(E657Q +4 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
CIITA
Single nucleotide variant
(intron variant)
MHC class II deficiency
+1 more
GBenign
CIITA
Single nucleotide variant
(intron variant)
MHC class II deficiency
+1 more
GConflicting classifications of pathogenicity
SOCS1
Single nucleotide variant
Rheumatoid arthritis
GAffects
CIITA
(M311V +4 more)
Single nucleotide variant
(missense variant +1 more)
MHC class II deficiency
+2 more
GConflicting classifications of pathogenicity
CIITA
(N310I +4 more)
Single nucleotide variant
(missense variant +1 more)
MHC class II deficiency
+1 more
GUncertain significance
CIITA
(S1115N +5 more)
Single nucleotide variant
(missense variant +1 more)
Rheumatoid arthritis
+5 more
GUncertain significance
PADI4
Single nucleotide variant
Rheumatoid arthritis
Gassociation
PADI4
Single nucleotide variant
(intron variant)
Rheumatoid arthritis
Gassociation
CIITA
(P519L +4 more)
Single nucleotide variant
(missense variant +1 more)
MHC class II deficiency
+1 more
GUncertain significance
CIITA
(Q103K +1 more)
Single nucleotide variant
(missense variant +1 more)
MHC class II deficiency
+1 more
GUncertain significance
CIITA
(S1073T +5 more)
Single nucleotide variant
(missense variant +1 more)
MHC class II deficiency
+1 more
GUncertain significance
CIITA
(V138A +2 more)
Single nucleotide variant
(missense variant +1 more)
MHC class II deficiency
+1 more
GUncertain significance
SUPT20H
(K25*)
Single nucleotide variant
(nonsense)
Rheumatoid arthritis
Grisk factor
CIITA
(A96T +1 more)
Single nucleotide variant
(missense variant +1 more)
MHC class II deficiency
+2 more
GUncertain significance
CIITA
(A57D +1 more)
Single nucleotide variant
(missense variant +1 more)
MHC class II deficiency
+1 more
GConflicting classifications of pathogenicity
IL10, IL19
+1 more
(G15R)
Single nucleotide variant
(missense variant +2 more)
not provided
+4 more
GConflicting classifications of pathogenicity
CIITA
Single nucleotide variant
(3 prime UTR variant +2 more)
MHC class II deficiency
+1 more
GUncertain significance
CIITA
Single nucleotide variant
(3 prime UTR variant +2 more)
MHC class II deficiency
+1 more
GUncertain significance
CIITA
(R884H +4 more)
Single nucleotide variant
(missense variant +1 more)
MHC class II deficiency
+2 more
GConflicting classifications of pathogenicity
CIITA
(P699L +4 more)
Single nucleotide variant
(missense variant +1 more)
MHC class II deficiency
+1 more
GUncertain significance
CIITA
Single nucleotide variant
(genic upstream transcript variant)
Rheumatoid arthritis
Grisk factor
AP4B1-AS1, PTPN22
(R620W +2 more)
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
NFKBIL1
Single nucleotide variant
(intron variant)
Rheumatoid arthritis
Grisk factor
SLC22A4
Single nucleotide variant
(intron variant)
Rheumatoid arthritis
Grisk factor
CD244
Single nucleotide variant
(intron variant)
Rheumatoid arthritis
Grisk factor
IRF5
Single nucleotide variant
(intron variant +1 more)
Systemic lupus erythematosus, susceptibility to, 10
+1 more
GPathogenic; risk factor
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