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Links from MedGen

Items: 46

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PPIB
Single nucleotide variant
(intron variant)
not provided
+1 more
GLikely benign
PPIB, SNX22
(K145fs)
Deletion
(frameshift variant +2 more)
not provided
+1 more
GPathogenic/Likely pathogenic
PPIB
Single nucleotide variant
Osteogenesis imperfecta type 9
GUncertain significance
PPIB
Single nucleotide variant
Osteogenesis imperfecta type 9
GUncertain significance
PPIB
Single nucleotide variant
(5 prime UTR variant)
Osteogenesis imperfecta type 9
GUncertain significance
PPIB
Single nucleotide variant
(5 prime UTR variant)
Osteogenesis imperfecta
+1 more
GUncertain significance
PPIB
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type 9
GUncertain significance
PPIB
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type 9
+1 more
GConflicting classifications of pathogenicity
PPIB
(F100L)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta
+1 more
GUncertain significance
SNX22, PPIB
(G120D)
Single nucleotide variant
(missense variant +2 more)
Osteogenesis imperfecta type 9
+2 more
GUncertain significance
SNX22, PPIB
Single nucleotide variant
(synonymous variant +2 more)
Osteogenesis imperfecta type 9
GUncertain significance
PPIB, SNX22
Single nucleotide variant
(3 prime UTR variant +2 more)
Osteogenesis imperfecta type 9
+1 more
GConflicting classifications of pathogenicity
PPIB, SNX22
Single nucleotide variant
(3 prime UTR variant +1 more)
Osteogenesis imperfecta type 9
GUncertain significance
SNX22, PPIB
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
Single nucleotide variant
(3 prime UTR variant +1 more)
Osteogenesis imperfecta type 9
GUncertain significance
PPIB
Single nucleotide variant
Osteogenesis imperfecta type 9
GUncertain significance
PPIB, SNX22
Single nucleotide variant
(synonymous variant +2 more)
Osteogenesis imperfecta type 9
GLikely benign
PPIB, SNX22
Single nucleotide variant
(3 prime UTR variant +2 more)
Osteogenesis imperfecta type 9
+1 more
GBenign
PPIB
(G29R)
Single nucleotide variant
(missense variant)
PPIB-related disorder
+2 more
GBenign/Likely benign
PPIB
Single nucleotide variant
(splice acceptor variant)
Osteogenesis imperfecta type 9
GUncertain significance
PPIB
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign/Likely benign
PPIB
Single nucleotide variant
Osteogenesis imperfecta type 9
GUncertain significance
PPIB
Single nucleotide variant
Osteogenesis imperfecta type 9
GUncertain significance
PPIB
Single nucleotide variant
Osteogenesis imperfecta type 9
GUncertain significance
PPIB
Single nucleotide variant
Osteogenesis imperfecta type 9
GUncertain significance
PPIB
Single nucleotide variant
Osteogenesis imperfecta type 9
GUncertain significance
PPIB
Single nucleotide variant
Osteogenesis imperfecta type 9
GUncertain significance
PPIB
Single nucleotide variant
Osteogenesis imperfecta type 9
GUncertain significance
PPIB
Single nucleotide variant
Osteogenesis imperfecta type 9
GUncertain significance
PPIB
(G20W)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type 9
GUncertain significance
PPIB
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type 9
GUncertain significance
PPIB, SNX22
(R122C)
Single nucleotide variant
(missense variant +2 more)
Osteogenesis imperfecta type 9
+1 more
GUncertain significance
PPIB, SNX22
Single nucleotide variant
(synonymous variant +2 more)
Osteogenesis imperfecta type 9
GUncertain significance
PPIB, SNX22
Single nucleotide variant
(synonymous variant +2 more)
not provided
+1 more
GConflicting classifications of pathogenicity
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
(D188fs)
Microsatellite
(frameshift variant +2 more)
Osteogenesis imperfecta type 9
GPathogenic
PPIB
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
PPIB
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign
PPIB
(G105R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
PPIB
(V42fs)
Deletion
(frameshift variant)
Osteogenesis imperfecta type 9
GPathogenic
PPIB
(M9R)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type 9
GPathogenic
PPIB, SNX22
(Q151*)
Single nucleotide variant
(nonsense +2 more)
Osteogenesis imperfecta type 9
GPathogenic
PPIB, SNX22
(K186fs)
Deletion
(frameshift variant +2 more)
Osteogenesis imperfecta
+1 more
GPathogenic
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