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Items: 1 to 100 of 2880

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC112533659, LOC112533660
+2032 more
Copy number gain
See cases
GPathogenic
AARSD1, AATF
+1753 more
Copy number gain
See cases
GPathogenic
ABCC3, ABI3
+203 more
Copy number loss
See cases
GPathogenic
COL1A1, DLX3
+74 more
Copy number loss
See cases
GPathogenic
ABCC3, ACSF2
+196 more
Copy number loss
See cases
GPathogenic
COL1A1
Single nucleotide variant
not provided
GBenign
COL1A1
Deletion
(3 prime UTR variant)
Osteogenesis Imperfecta, Dominant
+2 more
GUncertain significance
COL1A1
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome, arthrochalasia type
+2 more
GUncertain significance
COL1A1
Single nucleotide variant
(3 prime UTR variant)
Osteogenesis imperfecta
+2 more
GUncertain significance
COL1A1
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome, arthrochalasia type
+2 more
GBenign/Likely benign
COL1A1
Single nucleotide variant
(3 prime UTR variant)
not provided
+3 more
GBenign/Likely benign
COL1A1
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome, arthrochalasia type
+2 more
GUncertain significance
COL1A1
Single nucleotide variant
(3 prime UTR variant)
Osteogenesis imperfecta
+2 more
GBenign
COL1A1
Single nucleotide variant
(3 prime UTR variant)
Osteogenesis imperfecta
+3 more
GConflicting classifications of pathogenicity
COL1A1
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome, arthrochalasia type
+2 more
GUncertain significance
COL1A1
Single nucleotide variant
(3 prime UTR variant)
not provided
+3 more
GBenign/Likely benign
COL1A1
Single nucleotide variant
(3 prime UTR variant)
Osteogenesis imperfecta
+2 more
GUncertain significance
COL1A1
Deletion
(3 prime UTR variant)
not provided
GLikely benign
COL1A1
Deletion
(3 prime UTR variant)
Osteogenesis Imperfecta, Dominant
+2 more
GUncertain significance
COL1A1
Deletion
(3 prime UTR variant)
Osteogenesis Imperfecta, Dominant
+2 more
GUncertain significance
COL1A1
Deletion
(3 prime UTR variant)
Osteogenesis Imperfecta, Dominant
+2 more
GUncertain significance
COL1A1
Microsatellite
(3 prime UTR variant)
Osteogenesis Imperfecta, Dominant
+2 more
GUncertain significance
COL1A1
Deletion
(3 prime UTR variant)
Osteogenesis Imperfecta, Dominant
+3 more
GConflicting classifications of pathogenicity
COL1A1
Duplication
(3 prime UTR variant)
not provided
GBenign
COL1A1
Single nucleotide variant
(3 prime UTR variant)
not provided
+3 more
GConflicting classifications of pathogenicity
COL1A1
Deletion
(3 prime UTR variant)
Osteogenesis Imperfecta, Dominant
+2 more
GUncertain significance
COL1A1
Deletion
(3 prime UTR variant)
not provided
GLikely benign
COL1A1
Deletion
(3 prime UTR variant)
not provided
GBenign
COL1A1
Single nucleotide variant
(3 prime UTR variant)
not provided
+3 more
GConflicting classifications of pathogenicity
COL1A1
Deletion
(3 prime UTR variant)
Osteogenesis Imperfecta, Dominant
+2 more
GUncertain significance
COL1A1
Deletion
(3 prime UTR variant)
Osteogenesis Imperfecta, Dominant
+2 more
GUncertain significance
COL1A1
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome, arthrochalasia type
+3 more
GConflicting classifications of pathogenicity
COL1A1
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome, arthrochalasia type
+2 more
GUncertain significance
COL1A1
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome, arthrochalasia type
+2 more
GConflicting classifications of pathogenicity
COL1A1
Single nucleotide variant
(3 prime UTR variant)
Infantile cortical hyperostosis
+2 more
GUncertain significance
COL1A1
Single nucleotide variant
(3 prime UTR variant)
Infantile cortical hyperostosis
+2 more
GUncertain significance
COL1A1
Single nucleotide variant
(3 prime UTR variant)
Infantile cortical hyperostosis
+3 more
GBenign
COL1A1
Single nucleotide variant
(3 prime UTR variant)
Infantile cortical hyperostosis
+2 more
GUncertain significance
COL1A1
Single nucleotide variant
(3 prime UTR variant)
Osteogenesis Imperfecta, Dominant
+2 more
GUncertain significance
COL1A1
Insertion
(3 prime UTR variant)
Osteogenesis Imperfecta, Dominant
+3 more
GBenign/Likely benign
COL1A1
Single nucleotide variant
(3 prime UTR variant)
Infantile cortical hyperostosis
+2 more
GUncertain significance
COL1A1
Single nucleotide variant
(3 prime UTR variant)
Infantile cortical hyperostosis
+2 more
GUncertain significance
COL1A1
Single nucleotide variant
(3 prime UTR variant)
Infantile cortical hyperostosis
+2 more
GUncertain significance
COL1A1
Single nucleotide variant
(3 prime UTR variant)
Osteogenesis imperfecta
+2 more
GConflicting classifications of pathogenicity
COL1A1
Single nucleotide variant
(3 prime UTR variant)
Osteogenesis imperfecta
+2 more
GUncertain significance
COL1A1
Single nucleotide variant
(3 prime UTR variant)
not provided
GLikely benign
COL1A1
Single nucleotide variant
(3 prime UTR variant)
Infantile cortical hyperostosis
+2 more
GUncertain significance
COL1A1
Single nucleotide variant
(3 prime UTR variant)
Osteogenesis imperfecta
+3 more
GConflicting classifications of pathogenicity
COL1A1
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome, arthrochalasia type
+2 more
GUncertain significance
COL1A1
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome, arthrochalasia type
+2 more
GUncertain significance
COL1A1
Single nucleotide variant
(3 prime UTR variant)
Osteogenesis imperfecta
+2 more
GUncertain significance
COL1A1
Insertion
(3 prime UTR variant)
Osteogenesis Imperfecta, Dominant
+2 more
GUncertain significance
COL1A1
Duplication
(3 prime UTR variant)
Osteogenesis Imperfecta, Dominant
+2 more
GUncertain significance
COL1A1
Duplication
(3 prime UTR variant)
Osteogenesis Imperfecta, Dominant
+2 more
GUncertain significance
COL1A1
Duplication
(3 prime UTR variant)
Osteogenesis Imperfecta, Dominant
+2 more
GUncertain significance
COL1A1
Duplication
(3 prime UTR variant)
Osteogenesis Imperfecta, Dominant
+2 more
GUncertain significance
COL1A1
Duplication
(3 prime UTR variant)
Osteogenesis Imperfecta, Dominant
+2 more
GUncertain significance
COL1A1
Duplication
(3 prime UTR variant)
COL1A1-related disorder
GLikely benign
COL1A1
Duplication
(3 prime UTR variant)
COL1A1-related disorder
GLikely benign
COL1A1
Duplication
(3 prime UTR variant)
COL1A1-related disorder
GLikely benign
COL1A1
Duplication
(3 prime UTR variant)
Ehlers-Danlos syndrome type 7A
+3 more
GConflicting classifications of pathogenicity
COL1A1
Duplication
(3 prime UTR variant)
Ehlers-Danlos syndrome type 7A
+3 more
GConflicting classifications of pathogenicity
COL1A1
Deletion
(3 prime UTR variant)
Osteogenesis Imperfecta, Dominant
+2 more
GUncertain significance
COL1A1
Deletion
(3 prime UTR variant)
COL1A1-related disorder
GLikely benign
COL1A1
Deletion
(3 prime UTR variant)
COL1A1-related disorder
GLikely benign
COL1A1
Deletion
(3 prime UTR variant)
COL1A1-related disorder
GLikely benign
COL1A1
Deletion
(3 prime UTR variant)
COL1A1-related disorder
GLikely benign
COL1A1
Deletion
(3 prime UTR variant)
Osteogenesis Imperfecta, Dominant
+2 more
GUncertain significance
COL1A1
Single nucleotide variant
(3 prime UTR variant)
Infantile cortical hyperostosis
+3 more
GConflicting classifications of pathogenicity
COL1A1
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome, arthrochalasia type
+2 more
GUncertain significance
COL1A1
Deletion
(3 prime UTR variant)
not provided
GLikely benign
COL1A1
Single nucleotide variant
(3 prime UTR variant)
Osteogenesis imperfecta
+2 more
GUncertain significance
COL1A1
Single nucleotide variant
(3 prime UTR variant)
Osteogenesis imperfecta
+2 more
GConflicting classifications of pathogenicity
COL1A1
Single nucleotide variant
(3 prime UTR variant)
Osteogenesis imperfecta
+2 more
GBenign/Likely benign
COL1A1
Single nucleotide variant
(3 prime UTR variant)
Infantile cortical hyperostosis
+3 more
GBenign
COL1A1
Single nucleotide variant
(3 prime UTR variant)
Osteogenesis imperfecta
+2 more
GUncertain significance
COL1A1
Single nucleotide variant
(3 prime UTR variant)
Osteogenesis imperfecta
+2 more
GConflicting classifications of pathogenicity
LOC130061153, COL1A1
+2 more
Duplication
Osteogenesis imperfecta type I
GUncertain significance
COL1A1
Single nucleotide variant
(3 prime UTR variant)
not specified
GUncertain significance
COL1A1
Single nucleotide variant
(3 prime UTR variant)
not provided
GUncertain significance
COL1A1
Single nucleotide variant
(3 prime UTR variant)
not provided
GLikely benign
COL1A1
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type I
GLikely benign
COL1A1
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
GPathogenic
COL1A1
(F1463L)
Single nucleotide variant
(missense variant)
COL1A1-related disorder
+2 more
GBenign
COL1A1
(F1463fs)
Deletion
(frameshift variant)
Osteogenesis imperfecta type I
GPathogenic
COL1A1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GUncertain significance
COL1A1
(G1459A)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
+1 more
GUncertain significance
COL1A1
(V1458A)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
GUncertain significance
COL1A1
(V1458L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL1A1
(V1458I)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
COL1A1
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type I
+2 more
GLikely benign
COL1A1
(D1457H)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
GUncertain significance
COL1A1
(D1457N)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
+2 more
GConflicting classifications of pathogenicity
COL1A1
(F1456L)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
GUncertain significance
COL1A1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+1 more
GLikely benign
COL1A1
(F1456C)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
GUncertain significance
COL1A1
(G1455S)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
+1 more
GUncertain significance
COL1A1
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
COL1A1
Deletion
(frameshift variant)
Osteogenesis imperfecta type I
GPathogenic
COL1A1
(F1454S)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
+1 more
GUncertain significance
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