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Links from MedGen

Items: 1 to 100 of 2391

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL3A1
(P565fs)
Deletion
(frameshift variant)
Ehlers-Danlos syndrome, type 4
GLikely pathogenic
COL3A1
(E835Q)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
GUncertain significance
COL3A1
(P191fs)
Deletion
(frameshift variant)
Ehlers-Danlos syndrome, type 4
GLikely pathogenic
COL3A1
(K1273M)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
GUncertain significance
COL3A1
(G1026A)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
GLikely pathogenic
COL3A1
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, type 4
GLikely benign
COL3A1
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, type 4
GLikely benign
COL3A1
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, type 4
GLikely benign
COL3A1
(A304P)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
GUncertain significance
COL3A1
(P566R)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
GUncertain significance
COL3A1
(A170S)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
GUncertain significance
COL3A1
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, type 4
GLikely benign
COL3A1
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, type 4
GLikely benign
COL3A1
(D122E)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
GUncertain significance
COL3A1
(P571L)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
GUncertain significance
COL3A1
(P692L)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
GUncertain significance
COL3A1
(D1151Y)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
GUncertain significance
COL3A1
(P1141S)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
GUncertain significance
COL3A1
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, type 4
GLikely benign
COL3A1
(E1233Q)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
GUncertain significance
COL3A1
(R761K)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
GUncertain significance
COL3A1
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, type 4
GLikely benign
COL3A1
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, type 4
GLikely benign
COL3A1
(G836E)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
GUncertain significance
COL3A1
(P659Q)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
GUncertain significance
COL3A1
(A1117S)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
GUncertain significance
COL3A1
(I1105V)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
GUncertain significance
COL3A1
(P1135T)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
GUncertain significance
LOC126806446, COL3A1
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, type 4
GUncertain significance
COL3A1
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, type 4
GUncertain significance
COL3A1
(L880P)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
GUncertain significance
COL3A1
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, type 4
GLikely benign
COL3A1
(K901N)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
GUncertain significance
COL3A1
(P479A)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
GUncertain significance
COL3A1
(E502G)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
GUncertain significance
COL3A1
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, type 4
GUncertain significance
COL3A1
(S1067I)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
GUncertain significance
COL3A1
(L1000F)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
GUncertain significance
COL3A1
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, type 4
GLikely benign
COL3A1
(P253R)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
GUncertain significance
COL3A1
(E370Q)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
GUncertain significance
COL3A1
(P935R)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
GUncertain significance
COL3A1
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, type 4
GLikely benign
COL3A1
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, type 4
GLikely benign
COL3A1
(A14P)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
GUncertain significance
COL3A1
(P104A)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
GUncertain significance
COL3A1
(P821L)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
GUncertain significance
COL3A1
(E241D)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
GUncertain significance
COL3A1
(P890L)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
GUncertain significance
COL3A1
(L688M)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
GUncertain significance
COL3A1
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, type 4
GUncertain significance
COL3A1
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, type 4
GUncertain significance
COL3A1
(P766A)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
GUncertain significance
COL3A1
(L1359H)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
GUncertain significance
COL3A1
(P1181R)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
GUncertain significance
COL3A1
(P637L)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
GUncertain significance
COL3A1
(G103R)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
GUncertain significance
COL3A1
(A1213V)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
GUncertain significance
COL3A1
(E442Q)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
GUncertain significance
COL3A1
(A176S)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
GUncertain significance
COL3A1
(R863L)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
GUncertain significance
COL3A1
(K229N)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
GUncertain significance
COL3A1
(P314A)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
GUncertain significance
COL3A1
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, type 4
GLikely benign
COL3A1
(S162C)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
GUncertain significance
COL3A1
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, type 4
GLikely benign
COL3A1
(I66R)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
GUncertain significance
COL3A1
(R526K)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
GUncertain significance
COL3A1
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, type 4
GLikely benign
COL3A1
(P138S)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
GUncertain significance
COL3A1
(P845T)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
GUncertain significance
COL3A1
(S1027A)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
GUncertain significance
COL3A1
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, type 4
GLikely benign
COL3A1
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, type 4
GLikely benign
COL3A1
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, type 4
GLikely benign
COL3A1
(P1157T)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
GUncertain significance
COL3A1
(A718S)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
GUncertain significance
COL3A1
(G1416V)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
GUncertain significance
COL3A1
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, type 4
GUncertain significance
COL3A1
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, type 4
GLikely benign
COL3A1
(G1030V)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
GUncertain significance
COL3A1
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, type 4
GUncertain significance
COL3A1
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, type 4
GUncertain significance
COL3A1
(A27G)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
GUncertain significance
COL3A1, LOC126806446
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, type 4
GUncertain significance
COL3A1
(P844T)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
GUncertain significance
COL3A1
(R119K)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
GUncertain significance
COL3A1
(N653H)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
GUncertain significance
COL3A1
(A412T)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
GUncertain significance
COL3A1, LOC126806446
(P812S)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
GUncertain significance
COL3A1
(T1427I)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
GUncertain significance
COL3A1
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, type 4
GLikely benign
COL3A1
(K108E)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
GUncertain significance
COL3A1
(K1266E)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
GUncertain significance
COL3A1
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, type 4
GUncertain significance
COL3A1
(T19P)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
GUncertain significance
COL3A1
(P716S)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
GUncertain significance
COL3A1
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, type 4
GUncertain significance
COL3A1
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, type 4
GUncertain significance
COL3A1, LOC126806446
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, type 4
GLikely benign
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