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Links from MedGen

Items: 1 to 100 of 4604

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL5A1
Single nucleotide variant
(splice acceptor variant)
Ehlers-Danlos syndrome, classic type, 1
GLikely pathogenic
COL5A2
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, classic type, 1
GUncertain significance
COL5A1
(P1179S)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, classic type, 1
GBenign
COL5A1
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, classic type, 1
GBenign
COL5A2
(H301R)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, classic type, 1
GLikely benign
COL5A1
(A1098S)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, classic type, 1
GUncertain significance
COL5A1
(S614R)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, classic type, 1
GLikely benign
COL5A2
(P485T)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, classic type, 1
GUncertain significance
COL5A1
Indel
(intron variant)
Ehlers-Danlos syndrome, classic type, 1
GUncertain significance
COL5A1
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, classic type, 1
GLikely benign
COL5A1
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, classic type, 1
GLikely benign
COL5A1
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, classic type, 1
GLikely benign
COL5A2
(G777C)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, classic type, 1
GLikely benign
COL5A1
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, classic type, 1
GLikely benign
COL5A2
(A703T)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, classic type, 1
GUncertain significance
COL5A1
(P992L)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, classic type, 1
GLikely benign
COL5A1
Duplication
(intron variant)
Ehlers-Danlos syndrome, classic type, 1
GBenign
COL5A2
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, classic type, 1
GLikely benign
COL5A2
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, classic type, 1
GLikely benign
COL5A1
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, classic type, 1
GLikely benign
COL5A1
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, classic type, 1
GLikely benign
COL5A1
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, classic type, 1
GLikely benign
COL5A1, LOC101448202
(E1688K)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, classic type, 1
GBenign
COL5A1
(R792Q)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, classic type, 1
GUncertain significance
COL5A2
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, classic type, 1
GLikely benign
COL5A1
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, classic type, 1
GLikely benign
COL5A1
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, classic type, 1
GUncertain significance
COL5A1
(E281K)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, classic type, 1
GUncertain significance
COL5A1, LOC101448202
Single nucleotide variant
(non-coding transcript variant +1 more)
Ehlers-Danlos syndrome, classic type, 1
GLikely benign
COL5A2
Microsatellite
(intron variant)
Ehlers-Danlos syndrome, classic type, 1
GLikely benign
COL5A2
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, classic type, 1
GBenign
COL5A2
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, classic type, 1
GLikely benign
COL5A1, LOC101448202
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, classic type, 1
GLikely benign
COL5A1, LOC101448202
(H1484Y)
Single nucleotide variant
(non-coding transcript variant +1 more)
Ehlers-Danlos syndrome, classic type, 1
GLikely benign
COL5A1
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, classic type, 1
GLikely benign
COL5A2
(G633E)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, classic type, 1
GUncertain significance
COL5A2
Deletion
(intron variant)
Ehlers-Danlos syndrome, classic type, 1
GLikely benign
COL5A2
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, classic type, 1
GLikely benign
COL5A1
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, classic type, 1
GLikely benign
COL5A2
(P1156A)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, classic type, 1
GUncertain significance
COL5A2
(Q1467R)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, classic type, 1
GUncertain significance
COL5A2
Deletion
(intron variant)
Ehlers-Danlos syndrome, classic type, 1
GLikely benign
COL5A1
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, classic type, 1
GLikely benign
COL5A1
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, classic type, 1
GLikely benign
COL5A1
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, classic type, 1
GLikely benign
COL5A2
(P290S)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, classic type, 1
GUncertain significance
COL5A1
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, classic type, 1
GLikely benign
COL5A1
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, classic type, 1
GLikely benign
COL5A2
(Q1099E)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, classic type, 1
GUncertain significance
COL5A1
(P1457S)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, classic type, 1
GUncertain significance
COL5A1
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, classic type, 1
GUncertain significance
COL5A1
(L550F)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, classic type, 1
GUncertain significance
COL5A2
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, classic type, 1
GLikely benign
COL5A2
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, classic type, 1
GLikely benign
COL5A2
(Q761E)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, classic type, 1
GUncertain significance
COL5A1
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, classic type, 1
GUncertain significance
COL5A2
(P391V)
Indel
(missense variant)
Ehlers-Danlos syndrome, classic type, 1
GUncertain significance
COL5A1
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, classic type, 1
GLikely benign
COL5A1
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, classic type, 1
GLikely benign
COL5A1, LOC101448202
(S1614A)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, classic type, 1
GUncertain significance
COL5A1
(P1323S)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, classic type, 1
GLikely benign
COL5A2
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, classic type, 1
GLikely benign
COL5A1
(P996T)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, classic type, 1
GLikely benign
COL5A2
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, classic type, 1
GLikely benign
COL5A1
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, classic type, 1
GLikely benign
COL5A1, LOC101448202
(M1774V)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, classic type, 1
GUncertain significance
COL5A2
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, classic type, 1
GLikely benign
COL5A1, LOC101448202
(M1625T)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, classic type, 1
GUncertain significance
COL5A1
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, classic type, 1
GLikely benign
COL5A1
Deletion
(intron variant)
Ehlers-Danlos syndrome, classic type, 1
GLikely benign
COL5A2
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, classic type, 1
GLikely benign
COL5A1, LOC101448202
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, classic type, 1
GLikely benign
COL5A1
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, classic type, 1
GLikely benign
COL5A1
(F207L)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, classic type, 1
GUncertain significance
COL5A2
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, classic type, 1
GLikely benign
COL5A2
(G1125R)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, classic type, 1
GUncertain significance
COL5A1, LOC101448202
(E1773G)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, classic type, 1
GUncertain significance
COL5A2
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, classic type, 1
GLikely benign
COL5A1
(P855S)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, classic type, 1
GLikely benign
COL5A1
(P1287T)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, classic type, 1
GBenign
COL5A1
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, classic type, 1
GLikely benign
COL5A2
(P496Q)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, classic type, 1
GUncertain significance
COL5A1
(P707T)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, classic type, 1
GBenign
COL5A1
(R878T)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, classic type, 1
GUncertain significance
COL5A1
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, classic type, 1
GUncertain significance
COL5A1
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, classic type, 1
GLikely benign
COL5A1
(P1347A)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, classic type, 1
GUncertain significance
COL5A2
Duplication
(intron variant)
Ehlers-Danlos syndrome, classic type, 1
GBenign
COL5A1
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, classic type, 1
GBenign
COL5A1
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, classic type, 1
GBenign
COL5A1
(S544F)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, classic type, 1
GLikely benign
COL5A2
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, classic type, 1
GLikely benign
COL5A1
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, classic type, 1
GBenign
COL5A1
Deletion
(intron variant)
Ehlers-Danlos syndrome, classic type, 1
GUncertain significance
COL5A2
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, classic type, 1
GLikely benign
COL5A1
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, classic type, 1
GLikely benign
COL5A2
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, classic type, 1
GLikely benign
COL5A2
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, classic type, 1
GLikely benign
COL5A1
(P86R)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, classic type, 1
GBenign
COL5A1
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, classic type, 1
GBenign
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