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Links from MedGen

Items: 1 to 100 of 572

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CRTAP, LOC129936436
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type 7
GLikely benign
CRTAP
Single nucleotide variant
(synonymous variant +1 more)
Osteogenesis imperfecta type 7
GLikely benign
CRTAP
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type 7
GLikely benign
CRTAP
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type 7
GLikely benign
CRTAP, LOC129936436
(M1T)
Single nucleotide variant
(missense variant +1 more)
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
Single nucleotide variant
(synonymous variant +1 more)
Osteogenesis imperfecta type 7
GLikely benign
CRTAP
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type 7
GLikely benign
CRTAP
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type 7
GLikely benign
CRTAP
Single nucleotide variant
(synonymous variant +1 more)
Osteogenesis imperfecta type 7
GLikely benign
CRTAP
Single nucleotide variant
(intron 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
GLikely benign
CRTAP
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type 7
GLikely benign
CRTAP
Single nucleotide variant
(synonymous variant +1 more)
Osteogenesis imperfecta type 7
GLikely benign
CRTAP
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type 7
GLikely benign
CRTAP
(K254fs +1 more)
Deletion
(frameshift variant)
Osteogenesis imperfecta type 7
GPathogenic
CRTAP
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type 7
GLikely benign
CRTAP
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type 7
GLikely benign
CRTAP
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type 7
GLikely benign
CRTAP
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type 7
GLikely benign
CRTAP
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type 7
GLikely benign
CRTAP
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type 7
GLikely benign
CRTAP
Single nucleotide variant
(synonymous variant +1 more)
Osteogenesis imperfecta type 7
GLikely benign
CRTAP
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type 7
GLikely benign
CRTAP
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type 7
GLikely benign
CRTAP
Single nucleotide variant
(synonymous variant +1 more)
Osteogenesis imperfecta type 7
GLikely benign
CRTAP, LOC129936436
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
(intron variant +1 more)
Osteogenesis imperfecta type 7
GLikely benign
CRTAP
Insertion
(nonsense +2 more)
Osteogenesis imperfecta type 7
GPathogenic
CRTAP
(E137*)
Single nucleotide variant
(nonsense)
Osteogenesis imperfecta type 7
GPathogenic
CRTAP, LOC129936436
(C19*)
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 +1 more)
Osteogenesis imperfecta type 7
GLikely benign
CRTAP
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type 7
GLikely benign
CRTAP
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type 7
GLikely benign
CRTAP
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type 7
GLikely benign
CRTAP
(R72L)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type 7
GUncertain significance
CRTAP
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type 7
GLikely benign
CRTAP
(W60*)
Single nucleotide variant
(nonsense)
Osteogenesis imperfecta type 7
GPathogenic
CRTAP
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type 7
GLikely benign
CRTAP
(Q143*)
Single nucleotide variant
(nonsense)
Osteogenesis imperfecta type 7
GPathogenic
CRTAP
Single nucleotide variant
(synonymous variant +1 more)
Osteogenesis imperfecta type 7
GLikely benign
CRTAP
(E179*)
Single nucleotide variant
(nonsense +1 more)
Osteogenesis imperfecta type 7
GPathogenic
CRTAP
(A163fs +1 more)
Deletion
(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 +1 more)
Osteogenesis imperfecta type 7
GLikely benign
CRTAP
Single nucleotide variant
(synonymous variant +1 more)
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
(intron variant)
Osteogenesis imperfecta type 7
GLikely benign
CRTAP
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type 7
GLikely benign
CRTAP, LOC129936436
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 +1 more)
Osteogenesis imperfecta type 7
GLikely benign
CRTAP
Single nucleotide variant
(synonymous variant +1 more)
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
GLikely benign
CRTAP
Single nucleotide variant
(synonymous variant +1 more)
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
(R136fs)
Deletion
(frameshift variant)
Osteogenesis imperfecta type 7
GPathogenic
CRTAP
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type 7
GLikely benign
CRTAP
(D53fs)
Deletion
(frameshift variant)
Osteogenesis imperfecta type 7
GPathogenic
CRTAP
(Q290* +2 more)
Single nucleotide variant
(nonsense)
Osteogenesis imperfecta type 7
GPathogenic
CRTAP
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type 7
GLikely benign
CRTAP
Single nucleotide variant
(synonymous variant +1 more)
Osteogenesis imperfecta type 7
GLikely benign
CRTAP
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type 7
GLikely benign
CRTAP
Single nucleotide variant
(intron 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 +1 more)
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
(intron variant)
Osteogenesis imperfecta type 7
GLikely benign
CRTAP
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type 7
GLikely benign
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