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Links from MedGen

Items: 1 to 100 of 1130

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TECPR2
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 49
GLikely benign
TECPR2
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 49
GLikely benign
TECPR2
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 49
GLikely benign
TECPR2
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 49
GLikely benign
TECPR2
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 49
GLikely benign
TECPR2
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 49
GLikely benign
TECPR2
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 49
GLikely benign
TECPR2
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 49
GLikely benign
TECPR2
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 49
GLikely benign
TECPR2
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 49
GLikely benign
TECPR2
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 49
GLikely benign
TECPR2
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 49
GLikely benign
TECPR2
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 49
GLikely benign
TECPR2
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 49
GLikely benign
TECPR2
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 49
GLikely benign
TECPR2
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 49
GLikely benign
TECPR2
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 49
GLikely benign
TECPR2
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 49
GLikely benign
TECPR2
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 49
GLikely benign
TECPR2
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 49
GLikely benign
TECPR2
Duplication
(intron variant)
Hereditary spastic paraplegia 49
GLikely benign
TECPR2
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 49
GLikely benign
TECPR2
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 49
GLikely benign
TECPR2
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 49
GLikely benign
TECPR2
Insertion
(intron variant)
Hereditary spastic paraplegia 49
GLikely benign
TECPR2
Deletion
(intron variant)
Hereditary spastic paraplegia 49
GLikely benign
TECPR2
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 49
GLikely benign
TECPR2
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 49
GLikely benign
TECPR2
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 49
GLikely benign
TECPR2
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 49
GLikely benign
TECPR2
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 49
GLikely benign
TECPR2
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 49
GLikely benign
TECPR2
Deletion
(intron variant)
Hereditary spastic paraplegia 49
GBenign
TECPR2
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 49
GLikely benign
TECPR2
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 49
GLikely benign
TECPR2
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 49
GLikely benign
TECPR2
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 49
GLikely benign
TECPR2
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 49
GLikely benign
TECPR2
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 49
GLikely benign
TECPR2
(E1407K)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 49
GUncertain significance
TECPR2
Duplication
(intron variant)
Hereditary spastic paraplegia 49
GLikely benign
TECPR2
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 49
GLikely benign
TECPR2
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 49
GLikely benign
TECPR2
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 49
GLikely benign
TECPR2
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 49
GLikely benign
TECPR2
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 49
GLikely benign
TECPR2
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 49
GLikely benign
TECPR2
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 49
GLikely benign
TECPR2
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 49
GLikely benign
TECPR2
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 49
GLikely benign
LOC130056519, TECPR2
(K821fs)
Deletion
(frameshift variant)
Hereditary spastic paraplegia 49
GPathogenic
TECPR2
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 49
GLikely benign
TECPR2
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 49
GLikely benign
TECPR2
(T1042M)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 49
GUncertain significance
TECPR2
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 49
GLikely benign
LOC130056519, TECPR2
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 49
GLikely benign
TECPR2
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 49
GLikely benign
TECPR2
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 49
GLikely benign
TECPR2
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 49
GLikely benign
TECPR2
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 49
GLikely benign
TECPR2
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 49
GLikely benign
TECPR2
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 49
GLikely benign
TECPR2
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 49
GLikely benign
TECPR2
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 49
GLikely benign
TECPR2
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 49
GLikely benign
TECPR2
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 49
GLikely benign
TECPR2
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 49
GLikely benign
TECPR2
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 49
GLikely benign
TECPR2
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 49
GLikely benign
TECPR2
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 49
GLikely benign
TECPR2
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 49
GLikely benign
TECPR2
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 49
GLikely benign
TECPR2
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 49
GLikely benign
TECPR2
(Q852*)
Single nucleotide variant
(nonsense)
Hereditary spastic paraplegia 49
GPathogenic
TECPR2
(L64fs)
Deletion
(frameshift variant)
Hereditary spastic paraplegia 49
GPathogenic
TECPR2
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 49
GLikely benign
TECPR2
Deletion
(intron variant)
Hereditary spastic paraplegia 49
GLikely benign
TECPR2
(D593fs)
Deletion
(frameshift variant)
Hereditary spastic paraplegia 49
GPathogenic
TECPR2
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 49
GLikely benign
TECPR2
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 49
GLikely benign
TECPR2
(T638fs)
Deletion
(frameshift variant)
Hereditary spastic paraplegia 49
GPathogenic
TECPR2
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 49
GLikely benign
TECPR2
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 49
GLikely benign
TECPR2
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 49
GLikely benign
TECPR2
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 49
GLikely benign
TECPR2
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 49
GLikely benign
TECPR2
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 49
GLikely benign
TECPR2
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 49
GLikely benign
TECPR2
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 49
GLikely benign
TECPR2
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 49
GLikely benign
TECPR2
Deletion
(intron variant)
Hereditary spastic paraplegia 49
GLikely benign
TECPR2
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 49
GLikely benign
TECPR2
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 49
GLikely benign
TECPR2
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 49
GLikely benign
TECPR2
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 49
GLikely benign
TECPR2
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 49
GLikely benign
TECPR2
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 49
GLikely benign
TECPR2
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 49
GLikely benign
TECPR2
Microsatellite
(intron variant)
Hereditary spastic paraplegia 49
GLikely benign
TECPR2
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 49
GLikely benign
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