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Links from Gene

Items: 31

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PAX5
Deletion
not provided
GUncertain significance
LOC105376032, PAX5
(P150Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LOC105376032, PAX5
(D92A +2 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
LOC105376032, PAX5
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
GLikely benign
LOC105376032, PAX5
Single nucleotide variant
(intron variant)
not provided
GBenign
LOC105376032, PAX5
(S52P +2 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
GUncertain significance
PAX5
(R31Q)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
PAX5
(S231N +5 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
LOC105376032, PAX5
(S125G +2 more)
Single nucleotide variant
(missense variant +2 more)
PAX5-related disorder
GUncertain significance
LOC105376032, PAX5
(N129fs +2 more)
Insertion
(frameshift variant +2 more)
Acute lymphoid leukemia
GLikely pathogenic
LOC105376032, PAX5
(I115V +2 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
LOC105376032, PAX5
(V164L +2 more)
Single nucleotide variant
(missense variant +2 more)
Leukemia, acute lymphoblastic, susceptibility to, 3
GUncertain significance
LOC105376032, PAX5
(R131L +2 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
LOC108254682, PAX5
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
LOC105376032, PAX5
Single nucleotide variant
(intron variant)
not specified
GUncertain significance
LOC105376032, PAX5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LOC105376032, PAX5
Single nucleotide variant
(intron variant)
not provided
GBenign
LOC105376032, PAX5
Single nucleotide variant
(intron variant)
not provided
GBenign
LOC105376032, PAX5
Single nucleotide variant
(intron variant)
not provided
GBenign/Likely benign
LOC105376032, PAX5
Duplication
(intron variant)
not provided
GLikely benign
LOC108254682, PAX5
Duplication
(5 prime UTR variant +1 more)
not provided
GLikely benign
LOC105376032, PAX5
Single nucleotide variant
(intron variant)
not provided
GBenign
LOC105376032, PAX5
Duplication
(intron variant)
not provided
GBenign
LOC105376032, PAX5
Single nucleotide variant
(intron variant)
not provided
GBenign
LOC105376032, PAX5
(R140Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GLikely pathogenic
LOC105376032, PAX5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LOC105376032, PAX5
(Q145H +2 more)
Single nucleotide variant
(missense variant +1 more)
Acute lymphoid leukemia
GUncertain significance
PAX5
(P286L +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
Gnot provided
LOC105376032, PAX5
(V151I +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign/Likely benign
PAX5
(A320V +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
not specified
Gnot provided
LOC105376032, PAX5
(G183S +2 more)
Single nucleotide variant
(missense variant +2 more)
Leukemia, acute lymphoblastic, susceptibility to, 3
Grisk factor
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