U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 1 to 100 of 107

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FKBP10
Single nucleotide variant
(splice acceptor variant)
Bruck syndrome 1
+1 more
GLikely pathogenic
FKBP10
(A503fs)
Duplication
(frameshift variant)
Bruck syndrome 1
+1 more
GLikely pathogenic
FKBP10
Single nucleotide variant
(splice acceptor variant)
Bruck syndrome 1
+1 more
GLikely pathogenic
FKBP10
(P277fs)
Deletion
(frameshift variant)
Bruck syndrome 1
+1 more
GLikely pathogenic
FKBP10
(P248fs)
Deletion
(frameshift variant)
Bruck syndrome 1
+1 more
GLikely pathogenic
FKBP10
(Y242*)
Single nucleotide variant
(nonsense)
Bruck syndrome 1
+1 more
GLikely pathogenic
FKBP10
(L494fs)
Indel
(frameshift variant)
Osteogenesis imperfecta type 11
GLikely pathogenic
FKBP10
(G540fs)
Indel
(frameshift variant)
Osteogenesis imperfecta type 11
GLikely pathogenic
FKBP10
(G295V)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type 11
GUncertain significance
FKBP10
(Y195H)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type 11
GUncertain significance
FKBP10
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type 11
GUncertain significance
FKBP10
Deletion
(splice donor variant)
not provided
+2 more
GLikely pathogenic
FKBP10
(P345fs)
Deletion
(frameshift variant)
Osteogenesis imperfecta type 11
GLikely pathogenic
FKBP10
(G129S)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type 11
GUncertain significance
FKBP10
(R468W)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type 11
+1 more
GUncertain significance
FKBP10
(Q541*)
Single nucleotide variant
(nonsense)
not provided
+2 more
GLikely pathogenic
FKBP10
(S8fs)
Duplication
(frameshift variant)
Osteogenesis imperfecta type 11
+1 more
GPathogenic/Likely pathogenic
FKBP10
(M335V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
FKBP10
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type 11
GLikely pathogenic
FKBP10
(I343M)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type 11
GUncertain significance
FKBP10
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type 11
GLikely pathogenic
FKBP10
Single nucleotide variant
(3 prime UTR variant)
Osteogenesis imperfecta type 11
GUncertain significance
FKBP10
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type 11
+1 more
GConflicting classifications of pathogenicity
FKBP10
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type 11
+1 more
GConflicting classifications of pathogenicity
FKBP10
Single nucleotide variant
Osteogenesis imperfecta type 11
GUncertain significance
FKBP10
Single nucleotide variant
(3 prime UTR variant)
Osteogenesis imperfecta type 11
GUncertain significance
FKBP10
Single nucleotide variant
(3 prime UTR variant)
Osteogenesis imperfecta type 11
GUncertain significance
FKBP10
Single nucleotide variant
(3 prime UTR variant)
Osteogenesis imperfecta type 11
GUncertain significance
FKBP10
(D565N)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type 11
GUncertain significance
FKBP10
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type 11
+1 more
GConflicting classifications of pathogenicity
FKBP10
(G206S)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type 11
GUncertain significance
FKBP10
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type 11
+1 more
GConflicting classifications of pathogenicity
FKBP10
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type 11
+1 more
GConflicting classifications of pathogenicity
FKBP10
(R485Q)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type 11
+1 more
GUncertain significance
FKBP10
(R468Q)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type 11
GUncertain significance
FKBP10
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type 11
+1 more
GConflicting classifications of pathogenicity
FKBP10
(A461V)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type 11
GUncertain significance
FKBP10
(P164L)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type 11
+1 more
GConflicting classifications of pathogenicity
FKBP10
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type 11
+1 more
GUncertain significance
FKBP10
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta
+2 more
GConflicting classifications of pathogenicity
FKBP10
(A90T)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type 11
GUncertain significance
FKBP10
Single nucleotide variant
(3 prime UTR variant)
Osteogenesis imperfecta type 11
GUncertain significance
FKBP10
Single nucleotide variant
(3 prime UTR variant)
Osteogenesis imperfecta type 11
GUncertain significance
FKBP10
(V456A)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type 11
GUncertain significance
FKBP10
(V456M)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type 11
GUncertain significance
FKBP10
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type 11
+1 more
GConflicting classifications of pathogenicity
FKBP10
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type 11
+1 more
GConflicting classifications of pathogenicity
FKBP10
(T429I)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type 11
GUncertain significance
FKBP10
Single nucleotide variant
Osteogenesis imperfecta type 11
GUncertain significance
FKBP10
Single nucleotide variant
Osteogenesis imperfecta type 11
GUncertain significance
FKBP10
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta
+3 more
GConflicting classifications of pathogenicity
FKBP10
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GConflicting classifications of pathogenicity
FKBP10
(E516K)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
FKBP10
Deletion
(intron variant)
not provided
+1 more
GBenign/Likely benign
FKBP10
(D508N)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type 11
GUncertain significance
FKBP10
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type 11
+1 more
GBenign/Likely benign
FKBP10
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type 11
GBenign
FKBP10
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
FKBP10
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
FKBP10
(A34T)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type 11
GUncertain significance
FKBP10
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type 11
GBenign
FKBP10
(G124C)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type 11
GLikely pathogenic
FKBP10
(V45D)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type 11
GLikely pathogenic
FKBP10
(P36T)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type 11
GLikely pathogenic
FKBP10
(G300*)
Duplication
(nonsense)
Bruck syndrome 1
+1 more
GPathogenic/Likely pathogenic
FKBP10
(P519L)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type 11
+1 more
GUncertain significance
FKBP10
(G284R)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
FKBP10
(I455V)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type 11
+1 more
GConflicting classifications of pathogenicity
FKBP10
(G278fs)
Deletion
(frameshift variant)
not provided
+2 more
GPathogenic
FKBP10
(G278fs)
Duplication
(frameshift variant)
See cases
+8 more
GPathogenic
FKBP10
Single nucleotide variant
(3 prime UTR variant)
Osteogenesis imperfecta type 11
GUncertain significance
FKBP10
Single nucleotide variant
(3 prime UTR variant)
Osteogenesis imperfecta type 11
GUncertain significance
FKBP10
Single nucleotide variant
(3 prime UTR variant)
Osteogenesis imperfecta type 11
+1 more
GUncertain significance
FKBP10
Single nucleotide variant
(3 prime UTR variant)
Osteogenesis imperfecta type 11
+1 more
GBenign
FKBP10
Single nucleotide variant
(3 prime UTR variant)
Osteogenesis imperfecta type 11
+1 more
GBenign
FKBP10
Single nucleotide variant
(3 prime UTR variant)
Osteogenesis imperfecta type 11
+1 more
GBenign
FKBP10
(E575K)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type 11
+1 more
GUncertain significance
FKBP10
(M538T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
FKBP10
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
FKBP10
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type 11
+2 more
GBenign/Likely benign
FKBP10
Duplication
(intron variant)
Osteogenesis imperfecta type 11
+4 more
GBenign/Likely benign
FKBP10
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
FKBP10
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type 11
+1 more
GConflicting classifications of pathogenicity
FKBP10
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type 11
+1 more
GConflicting classifications of pathogenicity
FKBP10
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type 11
+1 more
GBenign
FKBP10
(S196N)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
FKBP10
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type 11
+1 more
GConflicting classifications of pathogenicity
FKBP10
(G174S)
Single nucleotide variant
(missense variant)
Bruck syndrome 1
+3 more
GConflicting classifications of pathogenicity
FKBP10
(R169G)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type 11
GUncertain significance
FKBP10
(V158A)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type 11
+2 more
GUncertain significance
FKBP10
Single nucleotide variant
Osteogenesis imperfecta type 11
GUncertain significance
FKBP10
Single nucleotide variant
Osteogenesis imperfecta type 11
GUncertain significance
FKBP10
Single nucleotide variant
Osteogenesis imperfecta type 11
GUncertain significance
FKBP10
Single nucleotide variant
not provided
+1 more
GLikely benign
FKBP10
Single nucleotide variant
Osteogenesis imperfecta type 11
GUncertain significance
FKBP10
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type 11
+1 more
GConflicting classifications of pathogenicity
FKBP10
(K197R)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
FKBP10
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type 11
+3 more
GBenign/Likely benign
FKBP10
(M326fs)
Deletion
(frameshift variant)
Osteogenesis imperfecta type 11
+1 more
GPathogenic
FKBP10
(I436T)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type 11
+3 more
GBenign/Likely benign
Format
Items per page
Sort by
Choose Destination