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Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129931648, NTRK1
(Q9*)
Single nucleotide variant
(nonsense +1 more)
Hereditary insensitivity to pain with anhidrosis
Gnot provided
NTRK1
Duplication
(splice donor variant)
Hereditary insensitivity to pain with anhidrosis
GPathogenic
NTRK1
Single nucleotide variant
(intron variant)
Inborn genetic diseases
+2 more
GPathogenic
NTRK1
Deletion
(splice acceptor variant +1 more)
Hereditary insensitivity to pain with anhidrosis
GPathogenic
NTRK1
Single nucleotide variant
(splice acceptor variant)
Charcot-Marie-Tooth disease
GUncertain significance
NTRK1
(R548fs +2 more)
Deletion
(frameshift variant)
Hereditary insensitivity to pain with anhidrosis
GPathogenic
NTRK1
(H598Y +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
NTRK1
(G607V +2 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign/Likely benign
NTRK1
(P585fs +2 more)
Insertion
(frameshift variant)
not provided
+1 more
GPathogenic
NTRK1
(D638Y +2 more)
Single nucleotide variant
(missense variant)
Hereditary insensitivity to pain with anhidrosis
GPathogenic/Likely pathogenic
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