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Links from MedGen

Items: 1 to 100 of 301

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL5A1, LOC101448202
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
COL5A1, LOC101448202
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome type 7A
GUncertain significance
COL5A1, LOC101448202
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome, classic type
+1 more
GLikely benign
COL5A1, LOC101448202
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome type 7A
GUncertain significance
LOC101448202, COL5A1
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome type 7A
+1 more
GBenign
COL5A1, LOC101448202
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome type 7A
GUncertain significance
COL5A1, LOC101448202
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome type 7A
GUncertain significance
COL5A1, LOC101448202
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome type 7A
GUncertain significance
LOC101448202, COL5A1
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome, classic type
+1 more
GBenign/Likely benign
COL5A1, LOC101448202
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GBenign/Likely benign
COL5A1, LOC101448202
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome type 7A
GUncertain significance
COL5A1, LOC101448202
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome type 7A
GUncertain significance
COL5A1, LOC101448202
Microsatellite
(3 prime UTR variant)
Ehlers-Danlos syndrome type 7A
GUncertain significance
COL5A1, LOC101448202
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome type 7A
GUncertain significance
COL5A1, LOC101448202
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome, classic type
+1 more
GBenign/Likely benign
COL5A1, LOC101448202
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GLikely benign
COL5A1, LOC101448202
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome type 7A
GUncertain significance
COL5A1, LOC101448202
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome type 7A
GUncertain significance
COL5A1, LOC101448202
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome type 7A
GUncertain significance
COL5A1, LOC101448202
Duplication
(3 prime UTR variant)
Ehlers-Danlos syndrome type 7A
GLikely benign
LOC101448202, COL5A1
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome type 7A
+2 more
GBenign/Likely benign
COL5A1, LOC101448202
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome type 7A
+1 more
GLikely benign
LOC101448202, COL5A1
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome type 7A
GLikely benign
COL5A1, LOC101448202
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome type 7A
+1 more
GLikely benign
COL5A1, LOC101448202
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome, classic type
+1 more
GBenign/Likely benign
LOC101448202, COL5A1
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome, classic type
+1 more
GBenign/Likely benign
LOC101448202, COL5A1
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome type 7A
+2 more
GBenign
COL5A1, LOC101448202
Microsatellite
(3 prime UTR variant)
Ehlers-Danlos syndrome type 7A
GBenign
COL5A1, LOC101448202
Duplication
(3 prime UTR variant)
Ehlers-Danlos syndrome type 7A
GUncertain significance
LOC101448202, COL5A1
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome, classic type
+1 more
GBenign/Likely benign
COL5A1, LOC101448202
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
COL5A1, LOC101448202
Duplication
(3 prime UTR variant)
Ehlers-Danlos syndrome type 7A
GBenign
COL5A1, LOC101448202
Insertion
(3 prime UTR variant)
Ehlers-Danlos syndrome type 7A
GUncertain significance
LOC101448202, COL5A1
Insertion
(3 prime UTR variant)
Ehlers-Danlos syndrome type 7A
GUncertain significance
COL5A1, LOC101448202
Duplication
(3 prime UTR variant)
Ehlers-Danlos syndrome type 7A
GUncertain significance
COL5A1, LOC101448202
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome, classic type, 1
+5 more
GBenign
LOC101448202, COL5A1
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome type 7A
GLikely benign
COL5A1, LOC101448202
Duplication
(3 prime UTR variant)
Ehlers-Danlos syndrome type 7A
GUncertain significance
COL5A1, LOC101448202
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome type 7A
GUncertain significance
COL5A1, LOC101448202
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome type 7A
+1 more
GLikely benign
COL5A1, LOC101448202
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome type 7A
+1 more
GLikely benign
COL5A1, LOC101448202
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome, classic type
+1 more
GBenign/Likely benign
LOC101448202, COL5A1
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome type 7A
GUncertain significance
COL5A1, LOC101448202
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome type 7A
GUncertain significance
LOC101448202, COL5A1
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome, classic type
+1 more
GBenign/Likely benign
COL5A1, LOC101448202
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome type 7A
+3 more
GBenign/Likely benign
COL5A1, LOC101448202
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome, classic type
+1 more
GBenign/Likely benign
COL5A1, LOC101448202
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome, classic type
+4 more
GBenign/Likely benign
COL5A1, LOC101448202
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome type 7A
+1 more
GLikely benign
COL5A1, LOC101448202
Single nucleotide variant
(3 prime UTR variant)
not provided
+3 more
GBenign
COL5A1, LOC101448202
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome type 7A
GUncertain significance
COL5A1, LOC101448202
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome type 7A
+1 more
GLikely benign
COL5A1, LOC101448202
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome type 7A
GUncertain significance
COL5A1, LOC101448202
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome, classic type
+1 more
GBenign/Likely benign
COL5A1, LOC101448202
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome type 7A
+3 more
GBenign
COL5A1, LOC101448202
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome type 7A
GUncertain significance
LOC101448202, COL5A1
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GBenign/Likely benign
COL5A1, LOC101448202
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome type 7A
GUncertain significance
COL5A1, LOC101448202
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome type 7A
+1 more
GConflicting classifications of pathogenicity
LOC101448202, COL5A1
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
+3 more
GConflicting classifications of pathogenicity
COL5A1, LOC101448202
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome type 7A
GUncertain significance
COL5A1, LOC101448202
(R1765C)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+4 more
GConflicting classifications of pathogenicity
COL5A1, LOC101448202
(A1755T)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, classic type, 1
+3 more
GConflicting classifications of pathogenicity
COL5A1, LOC101448202
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome type 7A
+1 more
GConflicting classifications of pathogenicity
COL5A1, LOC101448202
(E1599Q)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+5 more
GBenign/Likely benign
LOC101448202, COL5A1
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, classic type, 1
+2 more
GConflicting classifications of pathogenicity
COL5A1
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
+3 more
GConflicting classifications of pathogenicity
COL5A1
(P1457L)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+5 more
GConflicting classifications of pathogenicity
COL5A1
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GConflicting classifications of pathogenicity
COL5A1
(A1398T)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GConflicting classifications of pathogenicity
COL5A1
(E1313D)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
COL5A1
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, classic type, 1
+4 more
GBenign/Likely benign
COL5A1
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GConflicting classifications of pathogenicity
COL5A1
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome type 7A
+2 more
GConflicting classifications of pathogenicity
COL5A1
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GConflicting classifications of pathogenicity
COL5A1
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome type 7A
+3 more
GConflicting classifications of pathogenicity
COL5A1
Single nucleotide variant
(synonymous variant)
not specified
+5 more
GConflicting classifications of pathogenicity
COL5A1
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
+3 more
GConflicting classifications of pathogenicity
COL5A1
(N852S)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
COL5A1
Single nucleotide variant
(intron variant)
not specified
+3 more
GConflicting classifications of pathogenicity
COL5A1
(A728T)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+4 more
GLikely benign
COL5A1
(R663S)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome type 7A
GUncertain significance
COL5A1
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome type 7A
GUncertain significance
COL5A1
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome type 7A
+3 more
GConflicting classifications of pathogenicity
COL5A1
Duplication
(intron variant)
Ehlers-Danlos syndrome type 7A
+2 more
GUncertain significance
COL5A1
(T424A)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome type 7A
+3 more
GConflicting classifications of pathogenicity
COL5A1
(E284K)
Single nucleotide variant
(missense variant)
not specified
+6 more
GConflicting classifications of pathogenicity
COL5A1
Single nucleotide variant
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
COL5A1
(A247T)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, classic type, 1
+3 more
GConflicting classifications of pathogenicity
COL5A1
(T144K)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome type 7A
+1 more
GConflicting classifications of pathogenicity
COL5A1
(E122G)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome type 7A
+1 more
GUncertain significance
COL5A1
(L13F)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+5 more
GConflicting classifications of pathogenicity
COL5A1
Single nucleotide variant
(5 prime UTR variant)
not provided
+4 more
GBenign/Likely benign
COL5A1
Single nucleotide variant
(5 prime UTR variant)
Ehlers-Danlos syndrome type 7A
GUncertain significance
COL5A1
Single nucleotide variant
(5 prime UTR variant)
not provided
+3 more
GBenign
COL5A1
Microsatellite
(5 prime UTR variant)
Ehlers-Danlos syndrome type 7A
GUncertain significance
COL5A1
Single nucleotide variant
(5 prime UTR variant)
Ehlers-Danlos syndrome type 7A
GUncertain significance
COL5A1
Single nucleotide variant
(5 prime UTR variant)
Ehlers-Danlos syndrome type 7A
GUncertain significance
COL5A1
Single nucleotide variant
(5 prime UTR variant)
Ehlers-Danlos syndrome, classic type, 1
+2 more
GUncertain significance
COL5A1
Single nucleotide variant
(5 prime UTR variant)
Fibromuscular dysplasia, multifocal
+4 more
GBenign/Likely benign
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