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Links from MedGen

Items: 1 to 100 of 218

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL5A1
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, classic type, 1
+1 more
GLikely benign
COL5A1
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, classic type, 1
+1 more
GLikely benign
COL5A1
(G718fs)
Deletion
(frameshift variant)
Ehlers-Danlos syndrome, classic type, 1
+1 more
GPathogenic
COL5A1
(Y234H)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, classic type, 1
+2 more
GConflicting classifications of pathogenicity
COL5A1
(R948Q)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, classic type, 1
+2 more
GUncertain significance
COL5A1
Single nucleotide variant
(intron variant)
Fibromuscular dysplasia, multifocal
+2 more
GBenign/Likely benign
COL5A1, LOC101448202
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, classic type, 1
+2 more
GBenign/Likely benign
COL5A1, LOC101448202
(E1599K)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, classic type, 1
+2 more
GConflicting classifications of pathogenicity
COL5A1, LOC101448202
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, classic type, 1
+2 more
GConflicting classifications of pathogenicity
COL5A1
(R66*)
Single nucleotide variant
(nonsense)
Ehlers-Danlos syndrome, classic type, 1
+1 more
GPathogenic/Likely pathogenic
COL5A1
Single nucleotide variant
(intron variant)
Fibromuscular dysplasia, multifocal
+3 more
GBenign/Likely benign
COL5A1
(T984S)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, classic type, 1
+1 more
GUncertain significance
COL5A1, LOC101448202
(Q1796*)
Single nucleotide variant
(nonsense)
Ehlers-Danlos syndrome, classic type, 1
+2 more
GPathogenic/Likely pathogenic
COL5A1
(P656L)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
COL5A1
(E677V)
Single nucleotide variant
(missense variant)
Fibromuscular dysplasia, multifocal
+2 more
GUncertain significance
COL5A1, LOC101448202
Single nucleotide variant
(intron variant)
not specified
+3 more
GConflicting classifications of pathogenicity
COL5A1
(P435L)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, classic type, 1
+2 more
GConflicting classifications of pathogenicity
COL5A1, LOC101448202
Single nucleotide variant
(non-coding transcript variant +1 more)
Fibromuscular dysplasia, multifocal
+3 more
GBenign/Likely benign
COL5A1
Single nucleotide variant
(synonymous variant)
Fibromuscular dysplasia, multifocal
+5 more
GBenign/Likely benign
COL5A1, LOC101448202
Deletion
(intron variant)
not specified
+2 more
GBenign/Likely benign
COL5A1, LOC101448202
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, classic type, 1
+2 more
GBenign/Likely benign
COL5A1, LOC101448202
Single nucleotide variant
(synonymous variant)
Fibromuscular dysplasia, multifocal
+4 more
GBenign/Likely benign
COL5A1, LOC101448202
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
+3 more
GBenign/Likely benign
COL5A1
Single nucleotide variant
(5 prime UTR variant)
Ehlers-Danlos syndrome, classic type
+4 more
GBenign/Likely benign
COL5A1, LOC101448202
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, classic type, 1
+5 more
GBenign/Likely benign
COL5A1
Single nucleotide variant
(intron variant)
Fibromuscular dysplasia, multifocal
+3 more
GBenign/Likely benign
COL5A1
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GLikely benign
COL5A1
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, classic type, 1
+2 more
GBenign/Likely benign
LOC101448202, COL5A1
(P1780H)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
COL5A1
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GBenign/Likely benign
COL5A1
Single nucleotide variant
(intron variant)
Fibromuscular dysplasia, multifocal
+3 more
GBenign
COL5A1
Single nucleotide variant
(intron variant)
Fibromuscular dysplasia, multifocal
+3 more
GBenign
COL5A1
Single nucleotide variant
(intron variant)
Fibromuscular dysplasia, multifocal
+3 more
GBenign
COL5A1
Single nucleotide variant
(intron variant)
Fibromuscular dysplasia, multifocal
+3 more
GBenign
COL5A1
Single nucleotide variant
(intron variant)
Fibromuscular dysplasia, multifocal
+3 more
GBenign
COL5A1
(G1087A)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, classic type, 1
+4 more
GConflicting classifications of pathogenicity
COL5A1
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign/Likely benign
COL5A1
Single nucleotide variant
(intron variant)
Fibromuscular dysplasia, multifocal
+2 more
GBenign/Likely benign
LOC101448202, COL5A1
Single nucleotide variant
(synonymous variant)
COL5A1-related condition
+5 more
GBenign/Likely benign
COL5A1
Single nucleotide variant
(intron variant)
Connective tissue disorder
+3 more
GBenign/Likely benign
COL5A1
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, classic type, 1
+4 more
GBenign/Likely benign
LOC101448202, COL5A1
Single nucleotide variant
(synonymous variant)
Fibromuscular dysplasia, multifocal
+3 more
GBenign/Likely benign
COL5A1
Single nucleotide variant
(intron variant)
Fibromuscular dysplasia, multifocal
+2 more
GBenign/Likely benign
COL5A1
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign/Likely benign
COL5A1
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign/Likely benign
COL5A1
Single nucleotide variant
(intron variant)
Fibromuscular dysplasia, multifocal
+3 more
GBenign/Likely benign
COL5A1
(P908S)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, classic type, 1
+3 more
GConflicting classifications of pathogenicity
COL5A1, LOC101448202
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome, classic type, 1
+4 more
GBenign
COL5A1, LOC101448202
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome, classic type, 1
+3 more
GBenign/Likely benign
COL5A1, LOC101448202
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome, classic type, 1
+4 more
GBenign/Likely benign
COL5A1, LOC101448202
Single nucleotide variant
(3 prime UTR variant)
not provided
+3 more
GBenign
COL5A1, LOC101448202
Single nucleotide variant
(3 prime UTR variant)
not provided
+3 more
GBenign
COL5A1, LOC101448202
(E1599Q)
Single nucleotide variant
(missense variant)
Fibromuscular dysplasia, multifocal
+5 more
GBenign/Likely benign
COL5A1
Single nucleotide variant
(intron variant)
Fibromuscular dysplasia, multifocal
+4 more
GBenign/Likely benign
COL5A1
Single nucleotide variant
(5 prime UTR variant)
not provided
+4 more
GBenign/Likely benign
COL5A1
Single nucleotide variant
(5 prime UTR variant)
not provided
+3 more
GBenign
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
COL5A1
Single nucleotide variant
(intron variant)
COL5A1-related condition
+3 more
GBenign
COL5A1
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, classic type, 1
+4 more
GBenign/Likely benign
COL5A1
Duplication
(intron variant)
Ehlers-Danlos syndrome, classic type, 1
+3 more
GBenign/Likely benign
LOC101448202, COL5A1
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GLikely benign
COL5A1
Single nucleotide variant
(intron variant)
Fibromuscular dysplasia, multifocal
+3 more
GBenign
COL5A1
Single nucleotide variant
(intron variant)
not specified
+3 more
GBenign
COL5A1
Single nucleotide variant
(intron variant)
Fibromuscular dysplasia, multifocal
+3 more
GBenign
COL5A1, LOC101448202
Single nucleotide variant
(intron variant)
Fibromuscular dysplasia, multifocal
+3 more
GBenign/Likely benign
COL5A1, LOC101448202
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, classic type
+4 more
GBenign/Likely benign
COL5A1, LOC101448202
Single nucleotide variant
(intron variant)
Fibromuscular dysplasia, multifocal
+3 more
GBenign/Likely benign
COL5A1, LOC101448202
Single nucleotide variant
(intron variant)
Fibromuscular dysplasia, multifocal
+3 more
GBenign
COL5A1, LOC101448202
Single nucleotide variant
(intron variant)
Fibromuscular dysplasia, multifocal
+3 more
GBenign
COL5A1, LOC101448202
Single nucleotide variant
(non-coding transcript variant +1 more)
Fibromuscular dysplasia, multifocal
+3 more
GBenign
COL5A1
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, classic type, 1
+3 more
GBenign
COL5A1
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, classic type, 1
+3 more
GBenign
COL5A1
Single nucleotide variant
(intron variant)
Fibromuscular dysplasia, multifocal
+3 more
GBenign
COL5A1
Single nucleotide variant
(intron variant)
Fibromuscular dysplasia, multifocal
+3 more
GBenign
COL5A1
Single nucleotide variant
(intron variant)
Fibromuscular dysplasia, multifocal
+3 more
GBenign
COL5A1
Single nucleotide variant
(intron variant)
not specified
+3 more
GBenign
COL5A1
Single nucleotide variant
(intron variant)
not specified
+3 more
GBenign
COL5A1
Single nucleotide variant
(intron variant)
Fibromuscular dysplasia, multifocal
+2 more
GBenign/Likely benign
COL5A1
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, classic type, 1
+2 more
GBenign/Likely benign
COL5A1
Single nucleotide variant
(intron variant)
Fibromuscular dysplasia, multifocal
+3 more
GBenign
COL5A1
Single nucleotide variant
(intron variant)
Fibromuscular dysplasia, multifocal
+3 more
GBenign
COL5A1
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, classic type, 1
+3 more
GBenign
COL5A1
Single nucleotide variant
(intron variant)
Fibromuscular dysplasia, multifocal
+3 more
GBenign
COL5A1
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, classic type, 1
+3 more
GBenign
COL5A1
Single nucleotide variant
(intron variant)
Fibromuscular dysplasia, multifocal
+2 more
GBenign/Likely benign
COL5A1
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, classic type, 1
+2 more
GBenign/Likely benign
COL5A1
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, classic type, 1
+3 more
GBenign
COL5A1
Single nucleotide variant
(intron variant)
Fibromuscular dysplasia, multifocal
+3 more
GBenign
COL5A1
Single nucleotide variant
(intron variant)
not specified
+3 more
GBenign/Likely benign
COL5A1
Single nucleotide variant
(intron variant)
not provided
+3 more
GBenign
COL5A1
Single nucleotide variant
(intron variant)
Fibromuscular dysplasia, multifocal
+3 more
GBenign
COL5A1
Single nucleotide variant
(intron variant)
not specified
+3 more
GBenign
COL5A1
Single nucleotide variant
(intron variant)
not provided
+3 more
GBenign
COL5A1
Single nucleotide variant
(intron variant)
Fibromuscular dysplasia, multifocal
+3 more
GBenign
COL5A1
Single nucleotide variant
(intron variant)
Fibromuscular dysplasia, multifocal
+3 more
GBenign
COL5A1
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, classic type
+5 more
GBenign/Likely benign
COL5A1
Single nucleotide variant
(intron variant)
Fibromuscular dysplasia, multifocal
+3 more
GBenign
COL5A1
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, classic type
+4 more
GBenign
COL5A1
Single nucleotide variant
(intron variant)
not specified
+3 more
GBenign
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