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Links from MedGen

Items: 35

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NTRK2
(S542F +4 more)
Single nucleotide variant
(missense variant)
Obesity, hyperphagia, and developmental delay
GUncertain significance
NTRK2
(R524K +4 more)
Single nucleotide variant
(missense variant)
Obesity, hyperphagia, and developmental delay
GUncertain significance
NTRK2
(R519H +4 more)
Single nucleotide variant
(missense variant)
Obesity, hyperphagia, and developmental delay
GUncertain significance
NTRK2
(L469R +4 more)
Single nucleotide variant
(missense variant)
Obesity, hyperphagia, and developmental delay
GUncertain significance
NTRK2
(R379Q +4 more)
Single nucleotide variant
(missense variant)
Obesity, hyperphagia, and developmental delay
GLikely pathogenic
NTRK2
(R379* +4 more)
Single nucleotide variant
(nonsense)
Obesity, hyperphagia, and developmental delay
GLikely pathogenic
NTRK2
Single nucleotide variant
(intron variant)
Obesity, hyperphagia, and developmental delay
GUncertain significance
NTRK2
(Y173C +2 more)
Single nucleotide variant
(missense variant)
Obesity, hyperphagia, and developmental delay
GUncertain significance
NTRK2
(M630L +4 more)
Single nucleotide variant
(missense variant)
Obesity, hyperphagia, and developmental delay
GUncertain significance
NTRK2
(Y551S +4 more)
Single nucleotide variant
(missense variant)
Obesity, hyperphagia, and developmental delay
GUncertain significance
NTRK2
(R543W +4 more)
Single nucleotide variant
(missense variant)
Obesity, hyperphagia, and developmental delay
GUncertain significance
NTRK2
(R543Q +4 more)
Single nucleotide variant
(missense variant)
Obesity, hyperphagia, and developmental delay
GUncertain significance
LOC130001952, NTRK2
Single nucleotide variant
(splice acceptor variant)
Obesity, hyperphagia, and developmental delay
GUncertain significance
NTRK2
(V452M +4 more)
Single nucleotide variant
(missense variant)
Obesity, hyperphagia, and developmental delay
GUncertain significance
NTRK2
(Y550D +4 more)
Single nucleotide variant
(missense variant)
Obesity, hyperphagia, and developmental delay
+1 more
GConflicting classifications of pathogenicity
NTRK2
(V452L +4 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 58
+2 more
GUncertain significance
NTRK2
(I68F)
Single nucleotide variant
(missense variant)
Obesity, hyperphagia, and developmental delay
GUncertain significance
NTRK2
(N256D +3 more)
Single nucleotide variant
(missense variant)
Obesity, hyperphagia, and developmental delay
+1 more
GUncertain significance
NTRK2
Deletion
(intron variant)
Developmental and epileptic encephalopathy, 58
+2 more
GBenign/Likely benign
NTRK2
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 58
+2 more
GBenign/Likely benign
NTRK2
(V361I +4 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
NTRK2
(P149L)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
NTRK2
(I71V)
Single nucleotide variant
(missense variant)
Obesity, hyperphagia, and developmental delay
+1 more
GConflicting classifications of pathogenicity
NTRK2
(A428V +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
NTRK2
Single nucleotide variant
(intron variant)
Obesity, hyperphagia, and developmental delay
+2 more
GBenign
NTRK2
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
NTRK2
(S11Y +1 more)
Single nucleotide variant
(missense variant)
NTRK2-related disorder
+5 more
GLikely benign
NTRK2
(H499R +4 more)
Single nucleotide variant
(missense variant)
Obesity, hyperphagia, and developmental delay
GUncertain significance
NTRK2
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 58
+3 more
GLikely benign
NTRK2
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GLikely benign
NTRK2
(T720I +4 more)
Single nucleotide variant
(missense variant)
Obesity, hyperphagia, and developmental delay
GPathogenic
NTRK2
(G444* +3 more)
Single nucleotide variant
(nonsense)
Obesity, hyperphagia, and developmental delay
GPathogenic
NTRK2
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign/Likely benign
NTRK2
Single nucleotide variant
(synonymous variant)
NTRK2-related disorder
+4 more
GBenign/Likely benign
NTRK2
(Y722C +4 more)
Single nucleotide variant
(missense variant)
Obesity, hyperphagia, and developmental delay
GPathogenic
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