U.S. flag

An official website of the United States government

Display optionsSort by LocationDownload
Format
Items per page
Sort by
Choose Destination

Search results

Items: 1 to 100 of 581

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CRTAP
Single nucleotide variant
not provided
GBenign
CRTAP
(A23V)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta
+1 more
GUncertain significance
CRTAP
(G24R)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type 7
GUncertain significance
CRTAP
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type 7
GLikely benign
CRTAP
(R25S)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type 7
GUncertain significance
CRTAP
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type 7
GLikely benign
CRTAP
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type 7
GLikely benign
CRTAP
(Y28C)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type 7
GUncertain significance
CRTAP
(E29Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
CRTAP
(R30S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CRTAP
(R30C)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type 7
GUncertain significance
CRTAP
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type 7
GUncertain significance
CRTAP
Duplication
(inframe_insertion)
Osteogenesis imperfecta type 7
GUncertain significance
CRTAP
(Y31C)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type 7
GUncertain significance
CRTAP
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type 7
GLikely benign
CRTAP
(S32G)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CRTAP
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type 7
GLikely benign
CRTAP
(F33L)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type 7
GUncertain significance
CRTAP
(R34L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
CRTAP
(S35T)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type 7
GUncertain significance
CRTAP
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type 7
GLikely benign
CRTAP
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type 7
GLikely benign
CRTAP
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type 7
GLikely benign
CRTAP
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type 7
+1 more
GConflicting classifications of pathogenicity
CRTAP
(R38P)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type 7
GUncertain significance
CRTAP
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type 7
GLikely benign
CRTAP
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type 7
GLikely benign
CRTAP
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type 7
GLikely benign
CRTAP
(D39Y)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type 7
GUncertain significance
CRTAP
(E40*)
Single nucleotide variant
(nonsense)
Osteogenesis imperfecta type 7
GPathogenic
CRTAP
(E40fs)
Indel
(frameshift variant)
Osteogenesis imperfecta type 7
GPathogenic
CRTAP
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type 7
GLikely benign
CRTAP
(M42T)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type 7
+1 more
GUncertain significance
CRTAP
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type 7
GLikely benign
CRTAP
(L44P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
CRTAP
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type 7
GLikely benign
CRTAP
(A47T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CRTAP
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type 7
GLikely benign
CRTAP
(Y48F)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type 7
GUncertain significance
CRTAP
(Y48C)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type 7
GUncertain significance
CRTAP
(R49P)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type 7
GUncertain significance
CRTAP
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type 7
GLikely benign
CRTAP
(H59fs)
Duplication
(frameshift variant)
Osteogenesis imperfecta type 7
GPathogenic
CRTAP
(L52P)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type 7
GUncertain significance
CRTAP
(D53fs)
Deletion
(frameshift variant)
Osteogenesis imperfecta type 7
GPathogenic
CRTAP
(D53H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
CRTAP
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type 7
GLikely benign
CRTAP
(Y55H)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type 7
GUncertain significance
CRTAP
(S56N)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type 7
GBenign
CRTAP
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type 7
GLikely benign
CRTAP
(S56R)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type 7
+1 more
GUncertain significance
CRTAP
(G57S)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type 7
GUncertain significance
CRTAP
(G57D)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type 7
GUncertain significance
CRTAP
(E58*)
Single nucleotide variant
(nonsense)
Osteogenesis imperfecta type 7
GPathogenic
CRTAP
(E58G)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type 7
GUncertain significance
CRTAP
(W60*)
Single nucleotide variant
(nonsense)
Osteogenesis imperfecta type 7
GPathogenic
CRTAP
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type 7
GLikely benign
CRTAP
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type 7
GLikely benign
CRTAP
(V64L)
Single nucleotide variant
(missense variant)
CRTAP-related disorder
GUncertain significance
CRTAP
(G65D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CRTAP
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type 7
GLikely benign
CRTAP
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type 7
GLikely benign
CRTAP
(Y66D)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type 7
GUncertain significance
CRTAP
(Y66*)
Single nucleotide variant
(nonsense)
Osteogenesis imperfecta type 7
+1 more
GPathogenic
CRTAP
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type 7
GLikely benign
CRTAP
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type 7
GLikely benign
CRTAP
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type 7
GLikely benign
CRTAP
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign
CRTAP
(R72L)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type 7
GUncertain significance
CRTAP
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type 7
GLikely benign
CRTAP
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type 7
GLikely benign
CRTAP
(H74L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CRTAP
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type 7
GLikely benign
CRTAP
(R75H)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type 7
GUncertain significance
CRTAP
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type 7
GLikely benign
CRTAP
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type 7
GLikely benign
CRTAP
(R78H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
CRTAP
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type 7
GLikely benign
CRTAP
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type 7
GLikely benign
CRTAP
(D79H)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type 7
GUncertain significance
CRTAP
(D79Y)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type 7
GUncertain significance
CRTAP
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type 7
GLikely benign
CRTAP
(S80N)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type 7
+2 more
GUncertain significance
CRTAP
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type 7
GLikely benign
CRTAP
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type 7
GLikely benign
CRTAP
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type 7
GLikely benign
CRTAP
(R86P)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type 7
+1 more
GUncertain significance
CRTAP
(N87S)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type 7
GUncertain significance
CRTAP
(N87K)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type 7
GUncertain significance
CRTAP
(S89R)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type 7
GUncertain significance
CRTAP
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type 7
GLikely benign
CRTAP
(A91P)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type 7
GUncertain significance
CRTAP
(G99fs)
Duplication
(frameshift variant)
Osteogenesis imperfecta type 7
GPathogenic
CRTAP
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type 7
GLikely benign
CRTAP
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type 7
GLikely benign
CRTAP
(P94S)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type 7
GUncertain significance
CRTAP
Single nucleotide variant
(synonymous variant)
CRTAP-related disorder
+2 more
GConflicting classifications of pathogenicity
CRTAP
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type 7
GLikely benign
CRTAP
(A97P)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type 7
+3 more
GUncertain significance
CRTAP
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type 7
GLikely benign
Display optionsSort by LocationDownload
Format
Items per page
Sort by
Choose Destination