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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NTRK1
(R548fs +2 more)
Deletion
(frameshift variant)
Hereditary insensitivity to pain with anhidrosis
GPathogenic
NTRK1
(R566* +2 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
NTRK1
(D638Y +2 more)
Single nucleotide variant
(missense variant)
Hereditary insensitivity to pain with anhidrosis
GPathogenic/Likely pathogenic
NTRK1
(P768L +2 more)
Single nucleotide variant
(missense variant)
Hereditary insensitivity to pain with anhidrosis
GPathogenic
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