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Items: 1 to 100 of 1197

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129929105, LOC129929106
+2149 more
Copy number gain
Trisomy 12p
GPathogenic
TMEM201, TMEM240
+806 more
Copy number loss
See cases
GPathogenic
AADACL3, AADACL4
+804 more
Copy number loss
See cases
GPathogenic
AADACL3, AADACL4
+500 more
Copy number loss
See cases
GPathogenic
AADACL3, AADACL4
+505 more
Copy number loss
See cases
GPathogenic
LOC129929300, LOC129929301
+730 more
Copy number loss
See cases
GPathogenic
AADACL3, AADACL4
+557 more
Copy number loss
See cases
GPathogenic
PRAMEF7, PRAMEF8
+563 more
Copy number gain
See cases
GPathogenic
AADACL3, AADACL4
+387 more
Copy number gain
See cases
GPathogenic
AADACL3, AADACL4
+386 more
Copy number loss
See cases
GPathogenic
LOC129929417, LOC129929418
+309 more
Copy number loss
See cases
GPathogenic
AADACL3, AADACL4
+462 more
Copy number loss
See cases
GPathogenic
AADACL4, AGTRAP
+280 more
Copy number loss
See cases
GPathogenic
LOC129929360, LOC129929361
+370 more
Copy number loss
See cases
GPathogenic
LOC110120623, LOC110120648
+361 more
Duplication
not specified
GLikely pathogenic
AADACL3, AADACL4
+304 more
Copy number loss
See cases
GPathogenic
AADACL3, AADACL4
+337 more
Copy number loss
See cases
GPathogenic
LOC112577504, LOC112577505
+316 more
Copy number loss
See cases
GPathogenic
AADACL3, AADACL4
+209 more
Copy number gain
See cases
GLikely pathogenic
AADACL3, AADACL4
+288 more
Copy number loss
See cases
GPathogenic
C1orf167-AS1, AADACL3
+104 more
Copy number gain
See cases
GUncertain significance
AGTRAP, C1orf167
+28 more
Copy number gain
See cases
GUncertain significance
AGTRAP, C1orf167
+62 more
Copy number gain
See cases
GUncertain significance
PLOD1
Single nucleotide variant
not provided
GBenign
PLOD1
Single nucleotide variant
not provided
GBenign
PLOD1
Single nucleotide variant
not provided
GBenign
PLOD1
Single nucleotide variant
Ehlers-Danlos syndrome, kyphoscoliotic type 1
+1 more
GConflicting classifications of pathogenicity
PLOD1
Single nucleotide variant
Ehlers-Danlos syndrome, kyphoscoliotic type 1
GUncertain significance
PLOD1
Single nucleotide variant
(5 prime UTR variant)
Ehlers-Danlos syndrome, kyphoscoliotic type 1
GUncertain significance
PLOD1
Single nucleotide variant
(5 prime UTR variant)
Ehlers-Danlos syndrome, kyphoscoliotic type 1
GUncertain significance
PLOD1
Single nucleotide variant
(5 prime UTR variant)
Ehlers-Danlos syndrome, kyphoscoliotic type 1
GUncertain significance
PLOD1
Deletion
(5 prime UTR variant)
not specified
GLikely benign
PLOD1
Single nucleotide variant
(5 prime UTR variant)
not specified
GLikely benign
PLOD1
Single nucleotide variant
(5 prime UTR variant)
not specified
GUncertain significance
PLOD1
(M1fs)
Deletion
(frameshift variant +1 more)
not provided
+2 more
GUncertain significance
PLOD1
(R2W)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, kyphoscoliotic type 1
+1 more
GUncertain significance
PLOD1
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, kyphoscoliotic type 1
GLikely benign
PLOD1
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, kyphoscoliotic type 1
GLikely benign
PLOD1
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, kyphoscoliotic type 1
GLikely benign
PLOD1
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, kyphoscoliotic type 1
+2 more
GLikely benign
PLOD1
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GLikely benign
PLOD1
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, kyphoscoliotic type 1
GLikely benign
PLOD1
(W12R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLOD1
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GLikely benign
PLOD1
(A18T)
Single nucleotide variant
(missense variant)
not specified
+3 more
GUncertain significance
PLOD1
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, kyphoscoliotic type 1
GLikely benign
PLOD1
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
PLOD1
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, kyphoscoliotic type 1
GLikely benign
PLOD1
(D21G)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, kyphoscoliotic type 1
GUncertain significance
PLOD1
(D21E)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, kyphoscoliotic type 1
GUncertain significance
PLOD1
(A22S)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
PLOD1
(P24T)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
PLOD1
(P24S)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome
GUncertain significance
PLOD1
(P24L)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, kyphoscoliotic type 1
GUncertain significance
PLOD1
(P24R)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, kyphoscoliotic type 1
GUncertain significance
PLOD1
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, kyphoscoliotic type 1
GLikely benign
PLOD1
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, kyphoscoliotic type 1
+1 more
GLikely benign
PLOD1
(E25Q)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
PLOD1
(E25A)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, kyphoscoliotic type 1
+1 more
GUncertain significance
PLOD1
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, kyphoscoliotic type 1
GLikely benign
PLOD1
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, kyphoscoliotic type 1
GLikely benign
PLOD1
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, kyphoscoliotic type 1
GLikely benign
PLOD1
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, kyphoscoliotic type 1
GLikely benign
PLOD1
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, kyphoscoliotic type 1
GLikely benign
PLOD1
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign/Likely benign
PLOD1
Deletion
(intron variant)
Ehlers-Danlos syndrome, kyphoscoliotic type 1
GBenign
PLOD1
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, kyphoscoliotic type 1
GLikely benign
PLOD1
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, kyphoscoliotic type 1
GLikely benign
PLOD1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PLOD1
Single nucleotide variant
(intron variant)
not provided
GBenign
LOC112577486, PLOD1
(H42Y)
Single nucleotide variant
(missense variant +1 more)
Ehlers-Danlos syndrome, kyphoscoliotic type 1
+1 more
GBenign
LOC112577486, PLOD1
(L43P)
Single nucleotide variant
(missense variant +1 more)
Ehlers-Danlos syndrome, kyphoscoliotic type 1
GUncertain significance
LOC112577486, PLOD1
(D46Y)
Single nucleotide variant
(missense variant +1 more)
PLOD1-related condition
GLikely benign
LOC112577486, PLOD1
(R54Q)
Single nucleotide variant
(missense variant +1 more)
Ehlers-Danlos syndrome, kyphoscoliotic type 1
GBenign
LOC112577486, PLOD1
(S58F)
Single nucleotide variant
(missense variant +1 more)
PLOD1-related condition
+1 more
GConflicting classifications of pathogenicity
LOC112577486, PLOD1
Single nucleotide variant
(synonymous variant +1 more)
Ehlers-Danlos syndrome, kyphoscoliotic type 1
GLikely benign
LOC112577486, PLOD1
Single nucleotide variant
(synonymous variant +1 more)
Ehlers-Danlos syndrome, kyphoscoliotic type 1
GBenign
LOC112577486, PLOD1
(G71R)
Single nucleotide variant
(missense variant +1 more)
Ehlers-Danlos syndrome, kyphoscoliotic type 1
GLikely benign
PLOD1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PLOD1
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, kyphoscoliotic type 1
GLikely benign
PLOD1
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, kyphoscoliotic type 1
+1 more
GLikely benign
PLOD1
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, kyphoscoliotic type 1
GLikely benign
PLOD1
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, kyphoscoliotic type 1
GLikely benign
PLOD1
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, kyphoscoliotic type 1
GLikely benign
PLOD1
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, kyphoscoliotic type 1
GLikely benign
PLOD1
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, kyphoscoliotic type 1
GLikely benign
PLOD1
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, kyphoscoliotic type 1
GLikely benign
PLOD1
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, kyphoscoliotic type 1
GLikely benign
PLOD1
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome
+1 more
GConflicting classifications of pathogenicity
PLOD1
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, kyphoscoliotic type 1
GLikely benign
PLOD1
(D73G +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PLOD1
(N27S +1 more)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, kyphoscoliotic type 1
GUncertain significance
PLOD1
Duplication
(nonsense)
not provided
GUncertain significance
PLOD1
(L75I +1 more)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, kyphoscoliotic type 1
+1 more
GUncertain significance
PLOD1
(L29* +1 more)
Single nucleotide variant
(nonsense)
Ehlers-Danlos syndrome, kyphoscoliotic type 1
GPathogenic
PLOD1
(V30A +1 more)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, kyphoscoliotic type 1
+1 more
GUncertain significance
PLOD1
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, kyphoscoliotic type 1
GLikely benign
PLOD1
(T32M +1 more)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+3 more
GUncertain significance
PLOD1
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, kyphoscoliotic type 1
GLikely benign
PLOD1
(T35A +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
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