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Items: 1 to 100 of 2080

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC121740684, LOC121740685
+4735 more
Copy number loss
See cases
GPathogenic
LOC129998788, LOC129998789
+227 more
Copy number loss
See cases
GPathogenic
LOC110121296, LOC111365161
+110 more
Copy number loss
See cases
GPathogenic
BET1, BET1-AS1
+33 more
Copy number loss
See cases
GLikely pathogenic
CASD1, COL1A2
+2 more
Copy number gain
See cases
GUncertain significance
COL1A2
Single nucleotide variant
not provided
GBenign
COL1A2
Deletion
not provided
GBenign
COL1A2
Single nucleotide variant
Osteogenesis imperfecta
+1 more
GUncertain significance
COL1A2
Single nucleotide variant
Osteogenesis imperfecta
+1 more
GUncertain significance
COL1A2
Single nucleotide variant
Osteogenesis imperfecta
+1 more
GUncertain significance
COL1A2
Single nucleotide variant
Osteogenesis imperfecta
+1 more
GUncertain significance
COL1A2
Single nucleotide variant
Osteogenesis imperfecta
+2 more
GBenign/Likely benign
COL1A2
Single nucleotide variant
Osteogenesis imperfecta
+1 more
GUncertain significance
COL1A2
Single nucleotide variant
Osteogenesis imperfecta
+1 more
GUncertain significance
COL1A2
Single nucleotide variant
Osteogenesis imperfecta
+1 more
GUncertain significance
COL1A2
Single nucleotide variant
Osteogenesis imperfecta
+1 more
GUncertain significance
COL1A2
Single nucleotide variant
Osteogenesis imperfecta
+1 more
GUncertain significance
COL1A2
Single nucleotide variant
Osteogenesis imperfecta
+1 more
GUncertain significance
COL1A2
Single nucleotide variant
(5 prime UTR variant)
Osteogenesis imperfecta
+1 more
GUncertain significance
LOC129998824, LOC129998825
+5 more
Deletion
Myoclonic dystonia 11
GPathogenic
COL1A2
Deletion
Osteogenesis imperfecta type I
+2 more
GPathogenic
COL1A2
Deletion
Osteogenesis imperfecta type I
+2 more
GPathogenic
COL1A2
Single nucleotide variant
(5 prime UTR variant)
not provided
GLikely benign
COL1A2
(M1L)
Single nucleotide variant
(missense variant +1 more)
Osteogenesis imperfecta type I
+1 more
GUncertain significance
COL1A2
(R8W)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
+1 more
GUncertain significance
COL1A2
(L10W)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
+1 more
GUncertain significance
COL1A2
(L11S)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
+1 more
GUncertain significance
COL1A2
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type I
+1 more
GLikely benign
COL1A2
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta
+6 more
GBenign/Likely benign
COL1A2
(C18R)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
+8 more
GUncertain significance
COL1A2
(C18G)
Single nucleotide variant
(missense variant)
COL1A2-related disorder
+2 more
GConflicting classifications of pathogenicity
COL1A2
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
COL1A2
(A20T)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
+1 more
GUncertain significance
COL1A2
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GLikely benign
COL1A2
(Q23*)
Single nucleotide variant
(nonsense)
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2
+4 more
Gnot provided
COL1A2
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type I
+2 more
GConflicting classifications of pathogenicity
COL1A2
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type I
+1 more
GLikely benign
COL1A2
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, classic type, 1
+1 more
GLikely benign
COL1A2
Single nucleotide variant
(intron variant)
not specified
GLikely benign
COL1A2
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type I
+1 more
GLikely benign
COL1A2
Single nucleotide variant
(intron variant)
not provided
GBenign
COL1A2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
COL1A2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
COL1A2
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, cardiac valvular type
GPathogenic
COL1A2
Deletion
(intron variant)
not provided
GBenign/Likely benign
COL1A2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
COL1A2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
COL1A2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
COL1A2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
COL1A2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
COL1A2
Duplication
(intron variant)
Osteogenesis imperfecta type I
+1 more
GBenign
COL1A2
Duplication
(intron variant)
not provided
+2 more
GBenign
COL1A2
Deletion
(intron variant)
not specified
+2 more
GBenign
COL1A2
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, classic type, 1
+1 more
GLikely benign
COL1A2
Insertion
(intron variant)
Osteogenesis imperfecta type I
+1 more
GLikely benign
COL1A2
Single nucleotide variant
(intron variant)
COL1A2-related disorder
+3 more
GConflicting classifications of pathogenicity
COL1A2
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta
GUncertain significance
COL1A2
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta with normal sclerae, dominant form
GUncertain significance
COL1A2
(S24C)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, arthrochalasia type
+1 more
GUncertain significance
COL1A2
(Q26R)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, classic type, 1
+1 more
GUncertain significance
COL1A2
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
COL1A2
(E27K)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, classic type, 1
+1 more
GUncertain significance
COL1A2
(E27D)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, classic type, 1
+1 more
GUncertain significance
COL1A2
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta
+4 more
GConflicting classifications of pathogenicity
COL1A2
Single nucleotide variant
(intron variant)
COL1A2-related disorder
GLikely benign
COL1A2
Single nucleotide variant
(intron variant)
COL1A2-related disorder
+2 more
GLikely benign
COL1A2
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, classic type, 1
+1 more
GLikely benign
COL1A2
Deletion
(intron variant)
Osteogenesis imperfecta type I
+4 more
GConflicting classifications of pathogenicity
COL1A2
Single nucleotide variant
(intron variant)
not specified
GLikely benign
COL1A2
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type I
+1 more
GLikely benign
COL1A2
Deletion
(intron variant)
Ehlers-Danlos syndrome, classic type, 1
+1 more
GBenign
COL1A2
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, classic type, 1
+1 more
GLikely benign
COL1A2
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type I
+1 more
GLikely benign
COL1A2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
COL1A2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
COL1A2
Single nucleotide variant
(intron variant)
not provided
GBenign
COL1A2
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, classic type, 1
+1 more
GLikely benign
COL1A2
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, classic type, 1
+5 more
GBenign
COL1A2
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type I
+1 more
GUncertain significance
COL1A2
(E28K)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
+1 more
GUncertain significance
COL1A2
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta
+5 more
GBenign
COL1A2
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type I
+1 more
GLikely benign
COL1A2
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign/Likely benign
COL1A2
Single nucleotide variant
(intron variant)
Connective tissue disorder
GLikely benign
COL1A2
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type I
+1 more
GLikely benign
COL1A2
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type I
+1 more
GLikely benign
COL1A2
Deletion
(intron variant)
not provided
GLikely benign
COL1A2
Deletion
(intron variant)
not provided
GBenign
COL1A2
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type I
+1 more
GLikely benign
COL1A2
Single nucleotide variant
(intron variant)
COL1A2-related disorder
+2 more
GLikely benign
COL1A2
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type I
+1 more
GLikely benign
COL1A2
(G33V)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
+1 more
GUncertain significance
COL1A2
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome
GUncertain significance
COL1A2
(G36R)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
COL1A2
(D37G)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
+1 more
GUncertain significance
COL1A2
(R38S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL1A2
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
COL1A2
(G39R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
COL1A2
(P40T)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome
GUncertain significance
COL1A2
(R41C)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta
+2 more
GUncertain significance
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