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Items: 35

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PLOD1
(P24S)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome
GUncertain significance
PLOD1
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome
+1 more
GConflicting classifications of pathogenicity
PLOD1
(R42H +1 more)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GUncertain significance
PLOD1
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
+4 more
GBenign
PLOD1
(A84T +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GBenign/Likely benign
PLOD1
(A99T +1 more)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome
+4 more
GBenign/Likely benign
PLOD1
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome
GUncertain significance
PLOD1
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome
+1 more
GConflicting classifications of pathogenicity
PLOD1
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GConflicting classifications of pathogenicity
PLOD1
(Q119K +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GUncertain significance
PLOD1
(E170V +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GBenign
PLOD1
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GBenign/Likely benign
PLOD1
(K185N +1 more)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+4 more
GBenign/Likely benign
PLOD1
Deletion
(inframe_deletion)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GUncertain significance
PLOD1
(L188F +1 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
PLOD1
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GConflicting classifications of pathogenicity
PLOD1
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GConflicting classifications of pathogenicity
PLOD1
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
+3 more
GBenign/Likely benign
PLOD1
(Q327fs +1 more)
Duplication
(frameshift variant)
Ehlers-Danlos syndrome
GLikely pathogenic
PLOD1
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
+3 more
GConflicting classifications of pathogenicity
PLOD1
(V381M +1 more)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+4 more
GBenign/Likely benign
PLOD1
(V385M +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
PLOD1
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, kyphoscoliotic type 1
+3 more
GConflicting classifications of pathogenicity
PLOD1
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome
+3 more
GConflicting classifications of pathogenicity
PLOD1
(P406L +1 more)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome
+3 more
GUncertain significance
PLOD1
(Y455fs +1 more)
Deletion
(frameshift variant)
Ehlers-Danlos syndrome
GPathogenic
PLOD1
(K476R +1 more)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+4 more
GUncertain significance
PLOD1
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
+3 more
GConflicting classifications of pathogenicity
PLOD1
(Y511* +1 more)
Single nucleotide variant
(nonsense)
not provided
+3 more
GPathogenic
PLOD1
(R512C +1 more)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+4 more
GConflicting classifications of pathogenicity
PLOD1
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
+4 more
GBenign
PLOD1
(P622L +1 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GUncertain significance
PLOD1
(Q636* +1 more)
Single nucleotide variant
(nonsense)
Ehlers-Danlos syndrome
+1 more
GPathogenic/Likely pathogenic
PLOD1
(I664V +1 more)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, kyphoscoliotic type 1
+2 more
GUncertain significance
PLOD1
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
+4 more
GBenign
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