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Items: 18

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CIITA
Single nucleotide variant
(synonymous 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
Single nucleotide variant
(intron variant)
MHC class II deficiency
+1 more
GBenign
CIITA
(P162S +4 more)
Single nucleotide variant
(missense variant +1 more)
MHC class II deficiency
+1 more
GUncertain significance
CIITA
(P273L +4 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
CIITA
(P519L +4 more)
Single nucleotide variant
(missense variant +1 more)
MHC class II deficiency
+1 more
GUncertain significance
CIITA
(R624C +4 more)
Single nucleotide variant
(missense variant +1 more)
MHC class II deficiency
+1 more
GUncertain significance
CIITA
(P699L +4 more)
Single nucleotide variant
(missense variant +1 more)
Rheumatoid arthritis
+1 more
GUncertain significance
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)
MHC class II deficiency
+2 more
GUncertain significance
CIITA
(R791G +4 more)
Single nucleotide variant
(missense variant +1 more)
MHC class II deficiency
+1 more
GUncertain significance
CIITA
(A806V +4 more)
Single nucleotide variant
(missense variant +1 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
(S360L +5 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)
Rheumatoid arthritis
+2 more
GConflicting classifications of pathogenicity
CIITA
(S1115N +5 more)
Single nucleotide variant
(missense variant +1 more)
Rheumatoid arthritis
+5 more
GUncertain significance
CIITA
Single nucleotide variant
(3 prime UTR variant +2 more)
Rheumatoid arthritis
+1 more
GUncertain significance
CIITA
Single nucleotide variant
(3 prime UTR variant +2 more)
Rheumatoid arthritis
+1 more
GUncertain significance
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