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Links from MedGen

Items: 1 to 100 of 1228

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NTRK1
(L664P +2 more)
Single nucleotide variant
(missense variant)
Hereditary insensitivity to pain with anhidrosis
GLikely pathogenic
NTRK1
Indel
(inframe_indel)
Hereditary insensitivity to pain with anhidrosis
GUncertain significance
LOC129931648, NTRK1
(M1K)
Single nucleotide variant
(missense variant +2 more)
Hereditary insensitivity to pain with anhidrosis
GLikely pathogenic
NTRK1
Single nucleotide variant
(intron variant)
Hereditary insensitivity to pain with anhidrosis
GLikely pathogenic
NTRK1
Single nucleotide variant
(intron variant)
Hereditary insensitivity to pain with anhidrosis
GLikely benign
NTRK1
(C124fs +1 more)
Duplication
(frameshift variant)
Hereditary insensitivity to pain with anhidrosis
GPathogenic
NTRK1
Duplication
(intron variant)
Hereditary insensitivity to pain with anhidrosis
GBenign
NTRK1
Single nucleotide variant
(intron variant)
Hereditary insensitivity to pain with anhidrosis
GLikely benign
NTRK1
Single nucleotide variant
(synonymous variant +1 more)
Hereditary insensitivity to pain with anhidrosis
GLikely benign
NTRK1
Single nucleotide variant
(synonymous variant)
Hereditary insensitivity to pain with anhidrosis
GLikely benign
NTRK1
Single nucleotide variant
(synonymous variant)
Hereditary insensitivity to pain with anhidrosis
GLikely benign
NTRK1
Single nucleotide variant
(intron variant)
Hereditary insensitivity to pain with anhidrosis
GLikely benign
NTRK1
Single nucleotide variant
(intron variant)
Hereditary insensitivity to pain with anhidrosis
GLikely benign
NTRK1
Single nucleotide variant
(intron variant)
Hereditary insensitivity to pain with anhidrosis
GLikely benign
NTRK1
Single nucleotide variant
(intron variant)
Hereditary insensitivity to pain with anhidrosis
GLikely benign
NTRK1
Single nucleotide variant
(synonymous variant)
Hereditary insensitivity to pain with anhidrosis
GLikely benign
NTRK1
Single nucleotide variant
(synonymous variant)
Hereditary insensitivity to pain with anhidrosis
GLikely benign
NTRK1
Single nucleotide variant
(intron variant)
Hereditary insensitivity to pain with anhidrosis
GLikely benign
NTRK1
Single nucleotide variant
(intron variant)
Hereditary insensitivity to pain with anhidrosis
GLikely benign
NTRK1
Single nucleotide variant
(intron variant)
Hereditary insensitivity to pain with anhidrosis
GLikely benign
NTRK1
Single nucleotide variant
(synonymous variant)
Hereditary insensitivity to pain with anhidrosis
GLikely benign
NTRK1
Single nucleotide variant
(intron variant)
Hereditary insensitivity to pain with anhidrosis
GLikely benign
NTRK1
Single nucleotide variant
(intron variant)
Hereditary insensitivity to pain with anhidrosis
GLikely benign
NTRK1
Single nucleotide variant
(synonymous variant)
Hereditary insensitivity to pain with anhidrosis
GLikely benign
NTRK1
Deletion
(intron variant)
Hereditary insensitivity to pain with anhidrosis
GLikely benign
NTRK1
Single nucleotide variant
(synonymous variant)
Hereditary insensitivity to pain with anhidrosis
GLikely benign
NTRK1
Single nucleotide variant
(intron variant)
Hereditary insensitivity to pain with anhidrosis
GLikely benign
NTRK1
Single nucleotide variant
(synonymous variant)
Hereditary insensitivity to pain with anhidrosis
GLikely benign
NTRK1
Single nucleotide variant
(intron variant)
Hereditary insensitivity to pain with anhidrosis
GLikely benign
NTRK1
Single nucleotide variant
(intron variant)
Hereditary insensitivity to pain with anhidrosis
GLikely benign
NTRK1
(L595fs +2 more)
Duplication
(frameshift variant)
Hereditary insensitivity to pain with anhidrosis
GPathogenic
NTRK1
Single nucleotide variant
(synonymous variant)
Hereditary insensitivity to pain with anhidrosis
GLikely benign
NTRK1
Single nucleotide variant
(synonymous variant)
Hereditary insensitivity to pain with anhidrosis
GLikely benign
NTRK1
Single nucleotide variant
(intron variant)
Hereditary insensitivity to pain with anhidrosis
GLikely benign
NTRK1
Single nucleotide variant
(intron variant)
Hereditary insensitivity to pain with anhidrosis
GLikely benign
NTRK1
Single nucleotide variant
(intron variant)
Hereditary insensitivity to pain with anhidrosis
GLikely benign
NTRK1
Single nucleotide variant
(intron variant +1 more)
Hereditary insensitivity to pain with anhidrosis
GLikely pathogenic
NTRK1
Single nucleotide variant
(intron variant)
Hereditary insensitivity to pain with anhidrosis
GLikely benign
NTRK1
Deletion
(frameshift variant +1 more)
Hereditary insensitivity to pain with anhidrosis
GPathogenic
NTRK1
Single nucleotide variant
(intron variant)
Hereditary insensitivity to pain with anhidrosis
GLikely benign
NTRK1
(V507D +2 more)
Single nucleotide variant
(missense variant)
Hereditary insensitivity to pain with anhidrosis
GUncertain significance
NTRK1
Single nucleotide variant
(intron variant)
Hereditary insensitivity to pain with anhidrosis
GLikely benign
NTRK1
Single nucleotide variant
(synonymous variant)
Hereditary insensitivity to pain with anhidrosis
GLikely benign
NTRK1
Single nucleotide variant
(synonymous variant)
Hereditary insensitivity to pain with anhidrosis
GLikely benign
NTRK1
Single nucleotide variant
(intron variant)
Hereditary insensitivity to pain with anhidrosis
GLikely benign
NTRK1
Single nucleotide variant
(intron variant)
Hereditary insensitivity to pain with anhidrosis
GLikely benign
NTRK1
Single nucleotide variant
(synonymous variant)
Hereditary insensitivity to pain with anhidrosis
GLikely benign
NTRK1
Single nucleotide variant
(intron variant)
Hereditary insensitivity to pain with anhidrosis
GBenign
NTRK1
Single nucleotide variant
(intron variant)
Hereditary insensitivity to pain with anhidrosis
GLikely benign
NTRK1
Single nucleotide variant
(synonymous variant)
Hereditary insensitivity to pain with anhidrosis
GLikely benign
NTRK1
Single nucleotide variant
(intron variant)
Hereditary insensitivity to pain with anhidrosis
GLikely benign
NTRK1
Single nucleotide variant
(synonymous variant)
Hereditary insensitivity to pain with anhidrosis
GLikely benign
NTRK1
Single nucleotide variant
(intron variant)
Hereditary insensitivity to pain with anhidrosis
GLikely benign
NTRK1
Single nucleotide variant
(intron variant)
Hereditary insensitivity to pain with anhidrosis
GLikely benign
NTRK1
Single nucleotide variant
(intron variant)
Hereditary insensitivity to pain with anhidrosis
GLikely benign
NTRK1
Single nucleotide variant
(synonymous variant)
Hereditary insensitivity to pain with anhidrosis
GLikely benign
NTRK1
Single nucleotide variant
(intron variant)
Hereditary insensitivity to pain with anhidrosis
GLikely benign
NTRK1
Single nucleotide variant
(intron variant)
Hereditary insensitivity to pain with anhidrosis
GLikely benign
NTRK1
Single nucleotide variant
(intron variant)
Hereditary insensitivity to pain with anhidrosis
GLikely benign
NTRK1
Single nucleotide variant
(intron variant)
Hereditary insensitivity to pain with anhidrosis
GLikely benign
NTRK1
(R680C +2 more)
Single nucleotide variant
(missense variant)
Hereditary insensitivity to pain with anhidrosis
GUncertain significance
NTRK1
Single nucleotide variant
(intron variant)
Hereditary insensitivity to pain with anhidrosis
GLikely benign
NTRK1
Single nucleotide variant
(intron variant)
Hereditary insensitivity to pain with anhidrosis
GLikely benign
NTRK1
Single nucleotide variant
(splice acceptor variant)
Hereditary insensitivity to pain with anhidrosis
GLikely pathogenic
NTRK1
Single nucleotide variant
(intron variant)
Hereditary insensitivity to pain with anhidrosis
GLikely benign
NTRK1
Single nucleotide variant
(intron variant)
Hereditary insensitivity to pain with anhidrosis
GLikely benign
NTRK1
Single nucleotide variant
(synonymous variant)
Hereditary insensitivity to pain with anhidrosis
GLikely benign
NTRK1
Single nucleotide variant
(intron variant)
Hereditary insensitivity to pain with anhidrosis
GLikely benign
NTRK1
Single nucleotide variant
(intron variant)
Hereditary insensitivity to pain with anhidrosis
GLikely benign
NTRK1
Single nucleotide variant
(intron variant)
Hereditary insensitivity to pain with anhidrosis
GLikely benign
NTRK1
Single nucleotide variant
(intron variant)
Hereditary insensitivity to pain with anhidrosis
GLikely benign
NTRK1
Single nucleotide variant
(synonymous variant)
Hereditary insensitivity to pain with anhidrosis
GLikely benign
NTRK1
Single nucleotide variant
(intron variant)
Hereditary insensitivity to pain with anhidrosis
GLikely benign
NTRK1
Single nucleotide variant
(synonymous variant)
Hereditary insensitivity to pain with anhidrosis
GLikely benign
NTRK1
Single nucleotide variant
(intron variant)
Hereditary insensitivity to pain with anhidrosis
GLikely benign
NTRK1
Single nucleotide variant
(intron variant)
Hereditary insensitivity to pain with anhidrosis
GLikely benign
NTRK1
Deletion
(intron variant)
Hereditary insensitivity to pain with anhidrosis
GLikely benign
NTRK1
Single nucleotide variant
(synonymous variant)
Hereditary insensitivity to pain with anhidrosis
GLikely benign
NTRK1
Single nucleotide variant
(synonymous variant)
Hereditary insensitivity to pain with anhidrosis
GLikely benign
NTRK1
Single nucleotide variant
(synonymous variant)
Hereditary insensitivity to pain with anhidrosis
GLikely benign
NTRK1
Single nucleotide variant
(intron variant)
Hereditary insensitivity to pain with anhidrosis
GLikely benign
NTRK1
Single nucleotide variant
(intron variant)
Hereditary insensitivity to pain with anhidrosis
GLikely benign
NTRK1
Single nucleotide variant
(synonymous variant)
Hereditary insensitivity to pain with anhidrosis
GLikely benign
NTRK1
Single nucleotide variant
(intron variant)
Hereditary insensitivity to pain with anhidrosis
GLikely benign
NTRK1
Single nucleotide variant
(synonymous variant)
Hereditary insensitivity to pain with anhidrosis
GLikely benign
NTRK1
Microsatellite
(intron variant)
Hereditary insensitivity to pain with anhidrosis
GLikely benign
NTRK1
Single nucleotide variant
(intron variant)
Hereditary insensitivity to pain with anhidrosis
GLikely benign
NTRK1
Single nucleotide variant
(intron variant +1 more)
Hereditary insensitivity to pain with anhidrosis
GLikely pathogenic
NTRK1
Single nucleotide variant
(intron variant)
Hereditary insensitivity to pain with anhidrosis
GLikely benign
NTRK1
Single nucleotide variant
(intron variant)
Hereditary insensitivity to pain with anhidrosis
GLikely benign
NTRK1
Single nucleotide variant
(synonymous variant)
Hereditary insensitivity to pain with anhidrosis
GLikely benign
NTRK1
Indel
(intron variant)
Hereditary insensitivity to pain with anhidrosis
GPathogenic
NTRK1
Single nucleotide variant
(synonymous variant)
Hereditary insensitivity to pain with anhidrosis
GLikely benign
NTRK1
Deletion
(inframe_deletion +1 more)
Hereditary insensitivity to pain with anhidrosis
GPathogenic
NTRK1
Single nucleotide variant
(synonymous variant +1 more)
Hereditary insensitivity to pain with anhidrosis
GLikely benign
NTRK1
Single nucleotide variant
(intron variant)
Hereditary insensitivity to pain with anhidrosis
GLikely benign
NTRK1
Single nucleotide variant
(intron variant)
Hereditary insensitivity to pain with anhidrosis
GLikely benign
NTRK1
Single nucleotide variant
(synonymous variant)
Hereditary insensitivity to pain with anhidrosis
GLikely benign
NTRK1
Single nucleotide variant
(synonymous variant)
Hereditary insensitivity to pain with anhidrosis
GLikely benign
NTRK1
Single nucleotide variant
(synonymous variant +1 more)
Hereditary insensitivity to pain with anhidrosis
GLikely benign
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