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Items: 1 to 100 of 171

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130057927, LOC130057928
+1764 more
Copy number gain
See cases
GPathogenic
PPIB, SNX22
Duplication
(3 prime UTR variant +1 more)
Osteogenesis Imperfecta, Recessive
+1 more
GBenign/Likely benign
SNX22, PPIB
Duplication
(3 prime UTR variant +1 more)
Osteogenesis Imperfecta, Recessive
+1 more
GUncertain significance
PPIB, SNX22
Duplication
(3 prime UTR variant +1 more)
Osteogenesis Imperfecta, Recessive
+1 more
GBenign
PPIB, SNX22
Single nucleotide variant
(3 prime UTR variant +1 more)
Osteogenesis imperfecta type 9
GUncertain significance
PPIB, SNX22
Duplication
(3 prime UTR variant +1 more)
Osteogenesis Imperfecta, Recessive
GUncertain significance
PPIB, SNX22
Single nucleotide variant
(3 prime UTR variant +1 more)
Osteogenesis imperfecta type 9
GUncertain significance
PPIB, SNX22
Single nucleotide variant
(3 prime UTR variant +1 more)
Osteogenesis imperfecta type 9
GUncertain significance
PPIB, SNX22
Single nucleotide variant
(3 prime UTR variant +1 more)
Osteogenesis imperfecta type 9
GUncertain significance
PPIB, SNX22
Single nucleotide variant
(3 prime UTR variant +1 more)
Osteogenesis imperfecta type 9
GBenign
PPIB, SNX22
Single nucleotide variant
(3 prime UTR variant +1 more)
Osteogenesis imperfecta type 9
GUncertain significance
PPIB, SNX22
Single nucleotide variant
(3 prime UTR variant +1 more)
Osteogenesis imperfecta type 9
GUncertain significance
PPIB, SNX22
(E216*)
Single nucleotide variant
(nonsense +2 more)
not provided
GUncertain significance
PPIB, SNX22
(A214S)
Single nucleotide variant
(missense variant +2 more)
Osteogenesis imperfecta
GUncertain significance
PPIB, SNX22
(K209R)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
PPIB, SNX22
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
PPIB, SNX22
(E206K)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
PPIB, SNX22
Single nucleotide variant
(synonymous variant +2 more)
Osteogenesis imperfecta type 9
GLikely benign
PPIB, SNX22
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
PPIB, SNX22
(D201G)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
PPIB, SNX22
Single nucleotide variant
(synonymous variant +2 more)
Osteogenesis imperfecta type 9
+1 more
GConflicting classifications of pathogenicity
PPIB, SNX22
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
PPIB, SNX22
(R190Q)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
PPIB, SNX22
(D188fs)
Microsatellite
(frameshift variant +2 more)
Osteogenesis imperfecta type 9
GPathogenic
PPIB, SNX22
(K186fs)
Deletion
(frameshift variant +2 more)
Osteogenesis imperfecta
+1 more
GPathogenic
PPIB, SNX22
(E183A)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
PPIB, SNX22
(R180Q)
Single nucleotide variant
(missense variant +2 more)
PPIB-related disorder
GUncertain significance
PPIB, SNX22
Single nucleotide variant
(3 prime UTR variant +2 more)
Osteogenesis imperfecta type 9
+1 more
GBenign
PPIB, SNX22
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
GBenign
PPIB, SNX22
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
GLikely benign
PPIB, SNX22
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
+1 more
GConflicting classifications of pathogenicity
PPIB, SNX22
Single nucleotide variant
(3 prime UTR variant +2 more)
not specified
GUncertain significance
PPIB, SNX22
Single nucleotide variant
(3 prime UTR variant +2 more)
Osteogenesis imperfecta
GLikely pathogenic
PPIB, SNX22
Single nucleotide variant
(synonymous variant +2 more)
not provided
GUncertain significance
PPIB, SNX22
(G170D)
Single nucleotide variant
(missense variant +2 more)
Osteogenesis imperfecta
+1 more
GConflicting classifications of pathogenicity
PPIB, SNX22
Single nucleotide variant
(synonymous variant +2 more)
not provided
Gnot provided
PPIB, SNX22
(K158R)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
PPIB, SNX22
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
PPIB, SNX22
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
PPIB, SNX22
(Q151*)
Single nucleotide variant
(nonsense +2 more)
Osteogenesis imperfecta type 9
GPathogenic
PPIB, SNX22
(G149S)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
PPIB, SNX22
Single nucleotide variant
(synonymous variant +2 more)
Osteogenesis imperfecta type 9
GUncertain significance
PPIB, SNX22
(N148T)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
PPIB, SNX22
(K145fs)
Deletion
(frameshift variant +2 more)
not provided
+1 more
GPathogenic/Likely pathogenic
PPIB, SNX22
(N142K)
Single nucleotide variant
(missense variant +2 more)
PPIB-related disorder
GUncertain significance
PPIB, SNX22
Single nucleotide variant
(synonymous variant +2 more)
Osteogenesis imperfecta type 9
GUncertain significance
PPIB, SNX22
(N142S)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
PPIB, SNX22
(S139fs)
Deletion
(frameshift variant +2 more)
not provided
Gnot provided
SNX22, PPIB
(M140fs)
Duplication
(frameshift variant +2 more)
not provided
GLikely pathogenic
SNX22, PPIB
(S139I)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
PPIB, SNX22
(S139N)
Single nucleotide variant
(missense variant +2 more)
not specified
+1 more
GUncertain significance
PPIB, SNX22
Duplication
(inframe_indel +3 more)
Osteogenesis imperfecta
GUncertain significance
PPIB, SNX22
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
PPIB, SNX22
(R122C)
Single nucleotide variant
(missense variant +2 more)
Osteogenesis imperfecta type 9
+1 more
GUncertain significance
PPIB, SNX22
(G120D)
Single nucleotide variant
(missense variant +2 more)
Osteogenesis imperfecta type 9
+2 more
GUncertain significance
PPIB, SNX22
(S117R)
Single nucleotide variant
(3 prime UTR variant +2 more)
Inborn genetic diseases
GUncertain significance
PPIB, SNX22
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
PPIB, SNX22
(K116R)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
PPIB, SNX22
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
GLikely pathogenic
PPIB, SNX22
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
GLikely benign
PPIB, SNX22
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
GBenign/Likely benign
PPIB
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PPIB
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PPIB
Single nucleotide variant
(splice donor variant)
not provided
GPathogenic
PPIB
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PPIB
Single nucleotide variant
(synonymous variant)
PPIB-related disorder
GLikely benign
PPIB
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign
PPIB
(G105E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PPIB
(G105R)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
PPIB
(G105R)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta
+1 more
GPathogenic/Likely pathogenic
PPIB
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PPIB
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PPIB
(F100L)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta
+1 more
GUncertain significance
PPIB
Single nucleotide variant
(synonymous variant)
EBV-positive nodal T- and NK-cell lymphoma
GLikely benign
PPIB
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PPIB
(R95H)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta
GUncertain significance
PPIB
(R95S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PPIB
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type 9
GUncertain significance
PPIB
(K92R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PPIB
(K89I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PPIB
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PPIB
Single nucleotide variant
(splice acceptor variant)
Osteogenesis imperfecta type 9
GUncertain significance
PPIB
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PPIB
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PPIB
Single nucleotide variant
(intron variant)
not provided
GBenign
PPIB
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PPIB
Single nucleotide variant
(intron variant)
not provided
GBenign
PPIB
Duplication
(intron variant)
not provided
GLikely benign
PPIB
Deletion
(intron variant)
not provided
GLikely benign
PPIB
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PPIB
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign/Likely benign
PPIB
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PPIB
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type 9
+1 more
GConflicting classifications of pathogenicity
PPIB
Single nucleotide variant
(intron variant)
PPIB-related disorder
GLikely benign
PPIB
Single nucleotide variant
(splice donor variant)
not provided
GLikely pathogenic
PPIB
(E83Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PPIB
(G82fs)
Indel
(frameshift variant)
not provided
GLikely pathogenic
PPIB
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PPIB
(A78D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PPIB
(N75S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
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