U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 1 to 100 of 400

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129931453, LOC129931454
+1585 more
Copy number gain
See cases
GPathogenic
ANXA9, BNIPL
+59 more
Copy number loss
See cases
GLikely pathogenic
RFX5
Insertion
(3 prime UTR variant)
MHC class II deficiency
GUncertain significance
RFX5
Single nucleotide variant
(3 prime UTR variant)
MHC class II deficiency
GUncertain significance
RFX5
Single nucleotide variant
(3 prime UTR variant)
MHC class II deficiency
GLikely benign
RFX5
Single nucleotide variant
(3 prime UTR variant)
MHC class II deficiency
GUncertain significance
RFX5
Single nucleotide variant
(3 prime UTR variant)
MHC class II deficiency
GUncertain significance
RFX5
Single nucleotide variant
(3 prime UTR variant)
MHC class II deficiency
GUncertain significance
RFX5
Single nucleotide variant
(3 prime UTR variant)
MHC class II deficiency
GUncertain significance
RFX5
Single nucleotide variant
(3 prime UTR variant)
MHC class II deficiency
GUncertain significance
RFX5
Single nucleotide variant
(3 prime UTR variant)
MHC class II deficiency
GUncertain significance
RFX5
Single nucleotide variant
(3 prime UTR variant)
MHC class II deficiency
GBenign
RFX5
Single nucleotide variant
(3 prime UTR variant)
MHC class II deficiency
GUncertain significance
RFX5
Deletion
(3 prime UTR variant)
MHC class II deficiency
GUncertain significance
RFX5
Single nucleotide variant
(3 prime UTR variant)
MHC class II deficiency
GBenign
RFX5
Single nucleotide variant
(3 prime UTR variant)
MHC class II deficiency
GUncertain significance
RFX5
Single nucleotide variant
(3 prime UTR variant)
MHC class II deficiency
GUncertain significance
RFX5
Single nucleotide variant
(3 prime UTR variant)
MHC class II deficiency
GUncertain significance
RFX5
Single nucleotide variant
(3 prime UTR variant)
MHC class II deficiency
GUncertain significance
RFX5
Deletion
(3 prime UTR variant)
MHC class II deficiency
GUncertain significance
RFX5
Single nucleotide variant
(3 prime UTR variant)
MHC class II deficiency
GUncertain significance
RFX5
Single nucleotide variant
(3 prime UTR variant)
MHC class II deficiency
GUncertain significance
RFX5
Single nucleotide variant
(3 prime UTR variant)
MHC class II deficiency
GUncertain significance
RFX5
Single nucleotide variant
(3 prime UTR variant)
MHC class II deficiency
GBenign
RFX5
Single nucleotide variant
(3 prime UTR variant)
MHC class II deficiency
GBenign
RFX5
Single nucleotide variant
(3 prime UTR variant)
MHC class II deficiency
GUncertain significance
RFX5
Single nucleotide variant
(3 prime UTR variant)
MHC class II deficiency
GUncertain significance
RFX5
Deletion
(frameshift variant +1 more)
MHC class II deficiency
GUncertain significance
RFX5
(P576L +1 more)
Single nucleotide variant
(missense variant)
MHC class II deficiency
GUncertain significance
RFX5
(A613fs +1 more)
Deletion
(frameshift variant)
MHC class II deficiency
GUncertain significance
RFX5
(D610E +1 more)
Single nucleotide variant
(missense variant)
MHC class II deficiency
+1 more
GConflicting classifications of pathogenicity
RFX5
(H568R +1 more)
Single nucleotide variant
(missense variant)
MHC class II deficiency
GUncertain significance
RFX5
(H568Y +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RFX5
(Q566* +1 more)
Single nucleotide variant
(nonsense)
MHC class II deficiency
GUncertain significance
RFX5
Single nucleotide variant
(synonymous variant)
MHC class II deficiency
GLikely benign
RFX5
(S602N +1 more)
Single nucleotide variant
(missense variant)
RFX5-related disorder
+2 more
GConflicting classifications of pathogenicity
RFX5
Single nucleotide variant
(synonymous variant)
MHC class II deficiency
GConflicting classifications of pathogenicity
RFX5
Single nucleotide variant
(synonymous variant)
MHC class II deficiency
GLikely benign
RFX5
(D554fs +1 more)
Deletion
(frameshift variant)
MHC class II deficiency
GUncertain significance
RFX5
(N552S +1 more)
Single nucleotide variant
(missense variant)
MHC class II deficiency
GUncertain significance
RFX5
(G551S +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
RFX5
(Q590fs +1 more)
Deletion
(frameshift variant)
MHC class II deficiency
GUncertain significance
RFX5
(T547S +1 more)
Single nucleotide variant
(missense variant)
MHC class II deficiency
GUncertain significance
RFX5
(V545G +1 more)
Single nucleotide variant
(missense variant)
MHC class II deficiency
GUncertain significance
RFX5
(G583E +1 more)
Single nucleotide variant
(missense variant)
MHC class II deficiency
GUncertain significance
RFX5
(K582N +1 more)
Single nucleotide variant
(missense variant)
MHC class II deficiency
GUncertain significance
RFX5
(K582E +1 more)
Single nucleotide variant
(missense variant)
MHC class II deficiency
GUncertain significance
RFX5
(R572K +1 more)
Single nucleotide variant
(missense variant)
MHC class II deficiency
GUncertain significance
RFX5
(S571fs +1 more)
Duplication
(frameshift variant)
MHC class II deficiency
GLikely pathogenic
RFX5
(S526N +1 more)
Single nucleotide variant
(missense variant)
MHC class II deficiency
GUncertain significance
RFX5
(K564E +1 more)
Single nucleotide variant
(missense variant)
MHC class II deficiency
GUncertain significance
RFX5
(S563L +1 more)
Single nucleotide variant
(missense variant)
MHC class II deficiency
GUncertain significance
RFX5
(P522L +1 more)
Single nucleotide variant
(missense variant)
MHC class II deficiency
GUncertain significance
RFX5
(I558T +1 more)
Single nucleotide variant
(missense variant)
MHC class II deficiency
+1 more
GUncertain significance
RFX5
(A554del +1 more)
Deletion
(inframe_deletion)
MHC class II deficiency
GUncertain significance
RFX5
(T511A +1 more)
Single nucleotide variant
(missense variant)
MHC class II deficiency
GUncertain significance
RFX5
(H550D +1 more)
Single nucleotide variant
(missense variant)
MHC class II deficiency
GUncertain significance
RFX5
(G547S +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
RFX5
Single nucleotide variant
(synonymous variant)
MHC class II deficiency
GLikely benign
RFX5
Single nucleotide variant
(synonymous variant)
MHC class II deficiency
GLikely benign
RFX5
Single nucleotide variant
(synonymous variant)
MHC class II deficiency
GLikely benign
RFX5
(D536fs +1 more)
Duplication
(frameshift variant)
MHC class II deficiency
GUncertain significance
RFX5
(Q492fs +1 more)
Duplication
(frameshift variant)
MHC class II deficiency
GPathogenic
RFX5
(L490V +1 more)
Single nucleotide variant
(missense variant)
MHC class II deficiency
GUncertain significance
RFX5
(A488T +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
RFX5
(A488P +1 more)
Single nucleotide variant
(missense variant)
MHC class II deficiency
GUncertain significance
RFX5
(G487R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RFX5
(E483D +1 more)
Single nucleotide variant
(missense variant)
RFX5-related disorder
GUncertain significance
RFX5
Single nucleotide variant
(synonymous variant)
MHC class II deficiency
+1 more
GBenign/Likely benign
RFX5
Single nucleotide variant
(synonymous variant)
MHC class II deficiency
GLikely benign
RFX5
Single nucleotide variant
(synonymous variant)
MHC class II deficiency
GLikely benign
RFX5
(G509D +1 more)
Single nucleotide variant
(missense variant)
MHC class II deficiency
GUncertain significance
RFX5
Single nucleotide variant
(synonymous variant)
MHC class II deficiency
GLikely benign
RFX5
(G504D +1 more)
Single nucleotide variant
(missense variant)
MHC class II deficiency
GUncertain significance
RFX5
(G504S +1 more)
Single nucleotide variant
(missense variant)
MHC class II deficiency
GUncertain significance
RFX5
(W460* +1 more)
Single nucleotide variant
(nonsense)
MHC class II deficiency
GPathogenic
RFX5
(P499S +1 more)
Single nucleotide variant
(missense variant)
MHC class II deficiency
+1 more
GBenign
RFX5
(R497T +1 more)
Single nucleotide variant
(missense variant)
MHC class II deficiency
GUncertain significance
RFX5
(S496L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RFX5
(Q494fs +1 more)
Duplication
(frameshift variant)
not provided
GLikely pathogenic
RFX5
Single nucleotide variant
(synonymous variant)
MHC class II deficiency
GLikely benign
RFX5
(T442I +1 more)
Single nucleotide variant
(missense variant)
MHC class II deficiency
GUncertain significance
RFX5
(G475R +1 more)
Single nucleotide variant
(missense variant)
MHC class II deficiency
GUncertain significance
RFX5
(G434R +1 more)
Single nucleotide variant
(missense variant)
MHC class II deficiency
GUncertain significance
RFX5
(K472M +1 more)
Single nucleotide variant
(missense variant)
MHC class II deficiency
GUncertain significance
RFX5
(R470Q +1 more)
Single nucleotide variant
(missense variant)
MHC class II deficiency
GUncertain significance
RFX5
(R430* +1 more)
Single nucleotide variant
(nonsense)
MHC class II deficiency
GPathogenic
RFX5
(P469L +1 more)
Single nucleotide variant
(missense variant)
MHC class II deficiency
GUncertain significance
RFX5
(R428H +1 more)
Single nucleotide variant
(missense variant)
MHC class II deficiency
GUncertain significance
RFX5
(G427R +1 more)
Single nucleotide variant
(missense variant)
MHC class II deficiency
GUncertain significance
RFX5
(R426W +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
RFX5
(K465Q +1 more)
Single nucleotide variant
(missense variant)
MHC class II deficiency
GUncertain significance
RFX5
(R424K +1 more)
Single nucleotide variant
(missense variant)
RFX5-related disorder
GUncertain significance
RFX5
(K463E +1 more)
Single nucleotide variant
(missense variant)
MHC class II deficiency
+1 more
GUncertain significance
RFX5
(A422P +1 more)
Single nucleotide variant
(missense variant)
MHC class II deficiency
GUncertain significance
RFX5
(S420R +1 more)
Single nucleotide variant
(missense variant)
MHC class II deficiency
GUncertain significance
RFX5
(S420I +1 more)
Single nucleotide variant
(missense variant)
MHC class II deficiency
GUncertain significance
RFX5
(S460N +1 more)
Single nucleotide variant
(missense variant)
MHC class II deficiency
GBenign/Likely benign
RFX5
(A459fs +1 more)
Duplication
(frameshift variant)
MHC class II deficiency
GPathogenic
RFX5
(T458A +1 more)
Single nucleotide variant
(missense variant)
MHC class II deficiency
GUncertain significance
Format
Items per page
Sort by
Choose Destination