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Items: 45

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL5A1
Microsatellite
(inframe_insertion)
Familial thoracic aortic aneurysm and aortic dissection
+3 more
GConflicting classifications of pathogenicity
COL5A1
(P32S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL5A1
(R65Q)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, classic type, 1
+6 more
GBenign/Likely benign
COL5A1
Single nucleotide variant
(synonymous variant)
Fibromuscular dysplasia, multifocal
+5 more
GBenign/Likely benign
COL5A1
Single nucleotide variant
(intron variant)
COL5A1-related condition
+3 more
GBenign
COL5A1
(A93V)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+8 more
GBenign/Likely benign
COL5A1
(Q126H)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, classic type, 1
+5 more
GBenign/Likely benign
COL5A1
Single nucleotide variant
(synonymous variant)
Fibromuscular dysplasia, multifocal
+7 more
GBenign/Likely benign
COL5A1
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, classic type, 1
+4 more
GConflicting classifications of pathogenicity
COL5A1
(E269K)
Single nucleotide variant
(missense variant)
COL5A1-related condition
+5 more
GConflicting classifications of pathogenicity
COL5A1
(E322K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
COL5A1
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, classic type
+7 more
GBenign/Likely benign
COL5A1
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, classic type
+6 more
GBenign/Likely benign
COL5A1
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, classic type, 1
+7 more
GBenign/Likely benign
COL5A1
(E403*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
COL5A1
Single nucleotide variant
(synonymous variant)
COL5A1-related condition
+7 more
GConflicting classifications of pathogenicity
COL5A1
(A477T)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
COL5A1
(G530S)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, classic type, 1
+8 more
GBenign/Likely benign
COL5A1
Single nucleotide variant
(splice acceptor variant)
not provided
GPathogenic
COL5A1
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GConflicting classifications of pathogenicity
COL5A1
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, classic type, 1
+4 more
GConflicting classifications of pathogenicity
COL5A1
Single nucleotide variant
(splice donor variant)
Ehlers-Danlos syndrome
+2 more
GPathogenic
COL5A1
(T699M)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, classic type
+7 more
GLikely benign
COL5A1
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, classic type, 1
+2 more
GConflicting classifications of pathogenicity
COL5A1
(G899S)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, classic type, 1
+4 more
GBenign/Likely benign
COL5A1
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, classic type, 1
+5 more
GConflicting classifications of pathogenicity
COL5A1
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, classic type, 1
+4 more
GConflicting classifications of pathogenicity
COL5A1
(P1115L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
COL5A1
(P1143L)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
COL5A1
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, classic type, 1
+4 more
GConflicting classifications of pathogenicity
COL5A1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
COL5A1
(G1261R)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, classic type, 1
+1 more
GConflicting classifications of pathogenicity
COL5A1
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, classic type, 1
+2 more
GConflicting classifications of pathogenicity
COL5A1
(P1379S)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, classic type, 1
+6 more
GBenign/Likely benign
COL5A1
(P1395fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
COL5A1
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, classic type, 1
+9 more
GBenign/Likely benign
COL5A1
(E1412K)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, classic type, 1
+2 more
GUncertain significance
COL5A1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
COL5A1
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, classic type, 1
+8 more
GBenign/Likely benign
COL5A1, LOC101448202
Single nucleotide variant
(non-coding transcript variant +1 more)
Ehlers-Danlos syndrome, classic type, 1
+6 more
GBenign/Likely benign
COL5A1, LOC101448202
(A1636T)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, classic type, 1
+4 more
GConflicting classifications of pathogenicity
COL5A1, LOC101448202
(G1676R)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, classic type, 1
+1 more
GUncertain significance
COL5A1, LOC101448202
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, classic type, 1
+1 more
GConflicting classifications of pathogenicity
COL5A1, LOC101448202
(A1784T)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+6 more
GConflicting classifications of pathogenicity
COL5A1
Single nucleotide variant
not provided
GUncertain significance
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