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Items: 24

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL5A2
(I1279T)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, classic type, 1
+3 more
GConflicting classifications of pathogenicity
COL5A2
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, classic type, 1
+5 more
GBenign/Likely benign
COL5A2
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, classic type, 1
+5 more
GBenign/Likely benign
COL5A2
(T1230R)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, classic type, 1
+7 more
GBenign/Likely benign
COL5A2
Deletion
(inframe_deletion)
not provided
GUncertain significance
COL5A2
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, classic type, 2
+6 more
GConflicting classifications of pathogenicity
COL5A2
(R1070H)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, classic type, 1
+2 more
GConflicting classifications of pathogenicity
COL5A2
(G1068S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL5A2
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, classic type, 1
+6 more
GBenign/Likely benign
COL5A2
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, classic type, 2
+7 more
GBenign/Likely benign
COL5A2
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, classic type, 1
+4 more
GBenign/Likely benign
COL5A2
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GConflicting classifications of pathogenicity
COL5A2
(P701T)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, classic type, 1
+1 more
GUncertain significance
COL5A2
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
COL5A2
Single nucleotide variant
(intron variant)
COL5A2-related condition
+3 more
GBenign/Likely benign
COL5A2
(G375D)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
COL5A2
(M361L)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, classic type, 2
+6 more
GBenign/Likely benign
COL5A2
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, classic type, 2
+3 more
GConflicting classifications of pathogenicity
COL5A2
(M329V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
COL5A2
Deletion
(intron variant)
Ehlers-Danlos syndrome, classic type, 2
+5 more
GBenign/Likely benign
COL5A2
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
+3 more
GConflicting classifications of pathogenicity
COL5A2
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, classic type, 2
+6 more
GConflicting classifications of pathogenicity
COL5A2
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, classic type, 1
+6 more
GBenign/Likely benign
COL5A2
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, classic type, 1
+5 more
GConflicting classifications of pathogenicity
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