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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL1A1
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign
COL1A1
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta
+7 more
GBenign/Likely benign
COL1A1
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome
+4 more
GBenign/Likely benign
COL1A1
Single nucleotide variant
(intron variant)
Infantile cortical hyperostosis
+7 more
GConflicting classifications of pathogenicity
COL1A1
Single nucleotide variant
(intron variant)
Infantile cortical hyperostosis
+10 more
GConflicting classifications of pathogenicity
COL1A1
Single nucleotide variant
(intron variant)
not specified
+5 more
GConflicting classifications of pathogenicity
COL1A1
(P205A)
Single nucleotide variant
(missense variant)
Infantile cortical hyperostosis
+8 more
GConflicting classifications of pathogenicity
COL1A1
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GBenign/Likely benign
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