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Links from MedGen

Items: 1 to 100 of 871

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC112577486, PLOD1
Single nucleotide variant
(synonymous variant +1 more)
Ehlers-Danlos syndrome, kyphoscoliotic type 1
GBenign
PLOD1
(T293S +1 more)
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
(intron 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
(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
(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
(intron 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
(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
(synonymous 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
(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
(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
(synonymous 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
Deletion
(intron variant)
Ehlers-Danlos syndrome, kyphoscoliotic type 1
GLikely benign
PLOD1
(Q446* +1 more)
Single nucleotide variant
(nonsense)
Ehlers-Danlos syndrome, kyphoscoliotic type 1
GPathogenic
PLOD1
Single nucleotide variant
(intron 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
(intron 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
(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
(synonymous variant)
Ehlers-Danlos syndrome, kyphoscoliotic type 1
GLikely benign
PLOD1
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, kyphoscoliotic type 1
GLikely benign
PLOD1
(Y252* +1 more)
Single nucleotide variant
(nonsense)
Ehlers-Danlos syndrome, kyphoscoliotic type 1
GPathogenic
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
(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
(synonymous 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
(splice acceptor variant)
Ehlers-Danlos syndrome, kyphoscoliotic type 1
GLikely pathogenic
PLOD1
(N210fs +1 more)
Duplication
(frameshift variant)
Ehlers-Danlos syndrome, kyphoscoliotic type 1
GPathogenic
PLOD1
Single nucleotide variant
(synonymous 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, kyphoscoliotic type 1
GLikely benign
PLOD1
Single nucleotide variant
(intron 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
(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
(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
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
(L466R +1 more)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, kyphoscoliotic type 1
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
(L29* +1 more)
Single nucleotide variant
(nonsense)
Ehlers-Danlos syndrome, kyphoscoliotic type 1
GPathogenic
PLOD1
Single nucleotide variant
(splice donor variant)
Ehlers-Danlos syndrome, kyphoscoliotic type 1
GLikely pathogenic
PLOD1
Single nucleotide variant
(splice donor variant)
Ehlers-Danlos syndrome, kyphoscoliotic type 1
GLikely pathogenic
PLOD1
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, kyphoscoliotic type 1
GLikely benign
PLOD1
(N604fs +1 more)
Duplication
(frameshift variant)
Ehlers-Danlos syndrome, kyphoscoliotic type 1
GPathogenic
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
(L236fs +1 more)
Deletion
(frameshift variant)
Ehlers-Danlos syndrome, kyphoscoliotic type 1
GPathogenic
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
(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
(intron 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
GLikely benign
PLOD1
(W419* +1 more)
Single nucleotide variant
(nonsense)
Ehlers-Danlos syndrome, kyphoscoliotic type 1
GPathogenic
PLOD1
Single nucleotide variant
(synonymous 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
(synonymous variant)
Ehlers-Danlos syndrome, kyphoscoliotic type 1
GLikely benign
PLOD1
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, kyphoscoliotic type 1
GLikely benign
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