U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 1 to 100 of 154

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129931453, LOC129931454
+1585 more
Copy number gain
See cases
GPathogenic
ADAM15, ADAM15-EFNA4
+297 more
Copy number gain
See cases
GPathogenic
INSRR, NTRK1
(G1294C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
INSRR, NTRK1
(R1286K)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
INSRR, NTRK1
(R1269W)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
INSRR, NTRK1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
INSRR, NTRK1
(F1254S)
Single nucleotide variant
(missense variant +1 more)
Hereditary insensitivity to pain with anhidrosis
GUncertain significance
INSRR, NTRK1
(R1251W)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
INSRR, NTRK1
(L1250M)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
INSRR, NTRK1
(I1246L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
INSRR, NTRK1
(T1240I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
INSRR, NTRK1
Single nucleotide variant
(intron variant)
not provided
GBenign
INSRR, NTRK1
(G1209R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
INSRR, NTRK1
(V1201L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
INSRR, NTRK1
(V1180L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
INSRR, NTRK1
(V1180M)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
INSRR, NTRK1
(V1180fs)
Duplication
(frameshift variant +1 more)
Familial medullary thyroid carcinoma
+1 more
GUncertain significance
INSRR, NTRK1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
INSRR, NTRK1
(E1162K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
INSRR, NTRK1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
INSRR, NTRK1
(R1157L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
INSRR, NTRK1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
INSRR, NTRK1
(A5T)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
INSRR, NTRK1
Single nucleotide variant
(synonymous variant +1 more)
Hereditary insensitivity to pain with anhidrosis
GLikely benign
INSRR, NTRK1
(C8*)
Single nucleotide variant
(nonsense +1 more)
Hereditary insensitivity to pain with anhidrosis
GUncertain significance
INSRR, NTRK1
(P11L)
Single nucleotide variant
(missense variant +1 more)
Hereditary insensitivity to pain with anhidrosis
GUncertain significance
INSRR, NTRK1
Single nucleotide variant
(synonymous variant +1 more)
Hereditary insensitivity to pain with anhidrosis
GUncertain significance
INSRR, NTRK1
(V13fs)
Deletion
(intron variant +1 more)
Familial medullary thyroid carcinoma
GUncertain significance
INSRR, NTRK1
(I16F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
INSRR, NTRK1
(M1122I)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
INSRR, NTRK1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
INSRR, NTRK1
(A40E +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
INSRR, NTRK1
(A1096T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
INSRR, NTRK1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
INSRR, NTRK1
(N1081K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
INSRR, NTRK1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
INSRR, NTRK1
(R1064C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
INSRR, NTRK1
(T1063N)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
INSRR, NTRK1
(Q1053R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
INSRR, NTRK1
(E1030K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
INSRR, NTRK1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
INSRR, NTRK1
(V1010L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
INSRR, NTRK1
(V1010M)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
INSRR, NTRK1
(G986D)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
INSRR, NTRK1
(R983W)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
INSRR, NTRK1
(P969T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
INSRR, NTRK1
(A963T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NTRK1, INSRR
(E959G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
INSRR, NTRK1
(A954T)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
INSRR, NTRK1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
INSRR, NTRK1
(P928L)
Single nucleotide variant
(missense variant +1 more)
Hereditary insensitivity to pain with anhidrosis
+1 more
GBenign
INSRR, NTRK1
(A917T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
INSRR, NTRK1
(D903E)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
INSRR, NTRK1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
INSRR, NTRK1
(V890I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
INSRR, NTRK1
(S887A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
INSRR, NTRK1
(P842L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
INSRR, NTRK1
(P839T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
INSRR, NTRK1
(R835L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
INSRR, NTRK1
(R835C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
INSRR, NTRK1
(A826V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
INSRR, NTRK1
(A823V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
INSRR, NTRK1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
NTRK1, INSRR
(R808L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
INSRR, NTRK1
(H788N)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NTRK1, INSRR
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
INSRR, NTRK1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
INSRR, NTRK1
(G742R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
INSRR, NTRK1
(I725L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
INSRR, NTRK1
(P724L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
INSRR, NTRK1
(G696S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
INSRR, NTRK1
(C688R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
INSRR, NTRK1
(G660D)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
INSRR, NTRK1
(D650Y)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
INSRR, NTRK1
(G649S)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
INSRR, NTRK1
(R631S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
INSRR, NTRK1
(P628R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
INSRR, NTRK1
Single nucleotide variant
(intron variant)
not provided
GBenign
INSRR, NTRK1
(R599Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
INSRR, NTRK1
(V596I)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GLikely benign
INSRR, NTRK1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
INSRR, NTRK1
(T579R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
INSRR, NTRK1
(R554C)
Single nucleotide variant
(missense variant +1 more)
Hereditary insensitivity to pain with anhidrosis
+1 more
GLikely benign
INSRR, NTRK1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
INSRR, NTRK1
(N492K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
INSRR, NTRK1
(G464R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
INSRR, NTRK1
(R463L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
INSRR, NTRK1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
INSRR, NTRK1
(A406T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
INSRR, NTRK1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
INSRR, NTRK1
(R403L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
INSRR, NTRK1
(F381L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
INSRR, NTRK1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
INSRR, NTRK1
(T348K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
INSRR, NTRK1
(T348M)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
INSRR, NTRK1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
INSRR, NTRK1
(D336N)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
INSRR, NTRK1
(K333N)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
INSRR, NTRK1
(G331V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
INSRR, NTRK1
(E321K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
Format
Items per page
Sort by
Choose Destination