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Links from MedGen

Items: 1 to 100 of 248

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RET
(F213C +12 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GLikely pathogenic
RET
(A387P +14 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
RET
Single nucleotide variant
(5 prime UTR variant +1 more)
Hirschsprung disease, susceptibility to, 1
+5 more
GLikely benign
RET
Single nucleotide variant
(synonymous variant)
Hirschsprung disease, susceptibility to, 1
+6 more
GLikely benign
RET
Single nucleotide variant
(intron variant)
Hirschsprung disease, susceptibility to, 1
+5 more
GLikely benign
RET
Single nucleotide variant
(intron variant)
Multiple endocrine neoplasia, type 2
+5 more
GLikely benign
RET
Single nucleotide variant
(intron variant)
Hirschsprung disease, susceptibility to, 1
+5 more
GLikely benign
RET
Single nucleotide variant
(synonymous variant +1 more)
Multiple endocrine neoplasia, type 2
+6 more
GLikely benign
RET
Single nucleotide variant
(intron variant)
Multiple endocrine neoplasia, type 2
+5 more
GLikely benign
RET
Single nucleotide variant
(intron variant)
Multiple endocrine neoplasia, type 2
+5 more
GLikely benign
RET
Single nucleotide variant
(intron variant)
Multiple endocrine neoplasia, type 2
+5 more
GLikely benign
RET
Single nucleotide variant
(intron variant)
Multiple endocrine neoplasia, type 2
+5 more
GLikely benign
RET
Single nucleotide variant
(intron variant)
Multiple endocrine neoplasia type 2B
+5 more
GLikely benign
RET
Single nucleotide variant
(synonymous variant +1 more)
Multiple endocrine neoplasia type 2B
+7 more
GLikely benign
RET
(L827P +17 more)
Single nucleotide variant
(missense variant)
Hirschsprung disease, susceptibility to, 1
+5 more
GUncertain significance
RET
(P198S +1 more)
Single nucleotide variant
(missense variant)
Hirschsprung disease, susceptibility to, 1
+5 more
GUncertain significance
RET
(E1058D +17 more)
Single nucleotide variant
(missense variant)
Multiple endocrine neoplasia, type 2
+5 more
GUncertain significance
RET
(N610S +12 more)
Single nucleotide variant
(missense variant)
Multiple endocrine neoplasia, type 2
+6 more
GUncertain significance
RET
(K806R +17 more)
Single nucleotide variant
(missense variant)
Multiple endocrine neoplasia, type 2
+6 more
GUncertain significance
RET
(S157C +6 more)
Single nucleotide variant
(missense variant)
Multiple endocrine neoplasia, type 2
+2 more
GUncertain significance
RET
Single nucleotide variant
(intron variant)
not provided
+7 more
GConflicting classifications of pathogenicity
RET
Single nucleotide variant
(synonymous variant)
Pheochromocytoma
+5 more
GLikely benign
RET
Single nucleotide variant
(synonymous variant +1 more)
Multiple endocrine neoplasia type 2B
+7 more
GBenign/Likely benign
RET
Single nucleotide variant
(synonymous variant)
Multiple endocrine neoplasia type 2B
+6 more
GLikely benign
RET
Single nucleotide variant
(synonymous variant)
Multiple endocrine neoplasia, type 2
+6 more
GLikely benign
RET
Single nucleotide variant
(synonymous variant)
Hirschsprung disease, susceptibility to, 1
+6 more
GLikely benign
RET
(R189C +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+6 more
GUncertain significance
RET
(F150del)
Microsatellite
(inframe_indel +1 more)
Hereditary cancer-predisposing syndrome
+6 more
GUncertain significance
RET
(D1042N +17 more)
Single nucleotide variant
(missense variant)
Multiple endocrine neoplasia, type 2
+5 more
GUncertain significance
RET
(N151I)
Single nucleotide variant
(missense variant)
Multiple endocrine neoplasia, type 2
+6 more
GUncertain significance
RET
(A1046D +17 more)
Single nucleotide variant
(missense variant)
Multiple endocrine neoplasia, type 2
+2 more
GUncertain significance
RET
(V394F +14 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
NTRK1
(E554K +2 more)
Single nucleotide variant
(missense variant)
Hereditary insensitivity to pain with anhidrosis
+1 more
GLikely pathogenic
RET
(K757E +17 more)
Single nucleotide variant
(missense variant)
Pheochromocytoma
+6 more
GUncertain significance
RET
(Y761C +17 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+7 more
GUncertain significance
RET
(R226P +2 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+6 more
GUncertain significance
RET
(R693H +17 more)
Single nucleotide variant
(missense variant)
Pheochromocytoma
+7 more
GUncertain significance
RET
(S462L +8 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+7 more
GConflicting classifications of pathogenicity
RET
(P20Q)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+7 more
GUncertain significance
RET
(P1047L +17 more)
Single nucleotide variant
(missense variant)
Multiple endocrine neoplasia, type 2
+6 more
GUncertain significance
RET
Single nucleotide variant
(synonymous variant +2 more)
Multiple endocrine neoplasia type 2B
+7 more
GConflicting classifications of pathogenicity
RET
Single nucleotide variant
(synonymous variant +1 more)
Hereditary cancer-predisposing syndrome
+6 more
GConflicting classifications of pathogenicity
RET
(P60S)
Single nucleotide variant
(missense variant)
Hirschsprung disease, susceptibility to, 1
+6 more
GUncertain significance
RET
(A350V +12 more)
Single nucleotide variant
(missense variant)
Pheochromocytoma
+6 more
GUncertain significance
RET
(S148F)
Single nucleotide variant
(missense variant)
Familial medullary thyroid carcinoma
+6 more
GUncertain significance
RET
(M1064I)
Single nucleotide variant
(missense variant)
Multiple endocrine neoplasia, type 2
+7 more
GConflicting classifications of pathogenicity
RET
Single nucleotide variant
(intron variant)
Multiple endocrine neoplasia type 2B
+5 more
GUncertain significance
RET
(Y1062H +17 more)
Single nucleotide variant
(missense variant)
Hirschsprung disease, susceptibility to, 1
+7 more
GUncertain significance
RET
(R43H +3 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+6 more
GUncertain significance
RET
(R563H +17 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+6 more
GUncertain significance
RET
(E762D +17 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+6 more
GUncertain significance
RET
(V201I +8 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+6 more
GConflicting classifications of pathogenicity
RET
Single nucleotide variant
(synonymous variant +1 more)
Multiple endocrine neoplasia, type 2
+6 more
GLikely benign
RET
Single nucleotide variant
(synonymous variant +2 more)
Multiple endocrine neoplasia, type 2
+6 more
GLikely benign
RET
Single nucleotide variant
(synonymous variant +1 more)
Pheochromocytoma
+6 more
GLikely benign
RET
Single nucleotide variant
(intron variant)
Multiple endocrine neoplasia type 2A
+5 more
GLikely benign
RET
Single nucleotide variant
(synonymous variant +1 more)
Multiple endocrine neoplasia type 2B
+6 more
GLikely benign
RET
Single nucleotide variant
(synonymous variant)
Multiple endocrine neoplasia type 2A
+6 more
GLikely benign
RET
Single nucleotide variant
(synonymous variant +1 more)
Multiple endocrine neoplasia type 2B
+7 more
GLikely benign
RET
(S650A +17 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+6 more
GUncertain significance
RET
(R234Q +2 more)
Single nucleotide variant
(missense variant)
Familial medullary thyroid carcinoma
+7 more
GConflicting classifications of pathogenicity
RET
(K535E +17 more)
Single nucleotide variant
(missense variant)
Hirschsprung disease, susceptibility to, 1
+6 more
GConflicting classifications of pathogenicity
RET
(K483Q +17 more)
Single nucleotide variant
(missense variant)
Multiple endocrine neoplasia, type 2
+8 more
GUncertain significance
RET
(G28S)
Single nucleotide variant
(missense variant)
Hirschsprung disease, susceptibility to, 1
+7 more
GConflicting classifications of pathogenicity
RET
(V804M +35 more)
Single nucleotide variant
(missense variant)
Medullary thyroid carcinoma
GPathogenic
RET
(P218S +2 more)
Single nucleotide variant
(missense variant)
Multiple endocrine neoplasia type 2A
+6 more
GUncertain significance
NTRK1
(R666H +2 more)
Single nucleotide variant
(missense variant)
Hereditary insensitivity to pain with anhidrosis
+2 more
GUncertain significance
NTRK1
(D503H +2 more)
Single nucleotide variant
(missense variant)
Hereditary insensitivity to pain with anhidrosis
+2 more
GUncertain significance
NTRK1
(G482D +2 more)
Single nucleotide variant
(missense variant)
Familial medullary thyroid carcinoma
+1 more
GUncertain significance
NTRK1
(G425R +2 more)
Single nucleotide variant
(missense variant)
Familial medullary thyroid carcinoma
+1 more
GUncertain significance
NTRK1
(N251S +1 more)
Single nucleotide variant
(missense variant)
Familial medullary thyroid carcinoma
+2 more
GUncertain significance
NTRK1
(Q111P +1 more)
Single nucleotide variant
(missense variant)
Familial medullary thyroid carcinoma
+1 more
GUncertain significance
NTRK1
(R119C +1 more)
Single nucleotide variant
(missense variant)
Familial medullary thyroid carcinoma
+1 more
GUncertain significance
INSRR, NTRK1
(A40E +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
INSRR, NTRK1
(V13fs)
Deletion
(frameshift variant +1 more)
Familial medullary thyroid carcinoma
GUncertain significance
INSRR, NTRK1
(V1180fs)
Duplication
(frameshift variant +1 more)
Familial medullary thyroid carcinoma
GUncertain significance
RET
(R721Q +17 more)
Single nucleotide variant
(missense variant)
Hirschsprung disease, susceptibility to, 1
+7 more
GUncertain significance
RET
(A919P +17 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+7 more
GUncertain significance
RET
(K710R +17 more)
Single nucleotide variant
(missense variant)
Familial medullary thyroid carcinoma
+8 more
GConflicting classifications of pathogenicity
RET
(V145I)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+8 more
GConflicting classifications of pathogenicity
RET
(R475W +8 more)
Single nucleotide variant
(missense variant)
Multiple endocrine neoplasia, type 2
+7 more
GUncertain significance
RET
(K728E +17 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+6 more
GUncertain significance
RET
(P516R +12 more)
Single nucleotide variant
(missense variant)
Hirschsprung disease, susceptibility to, 1
+7 more
GUncertain significance
RET
(R133H)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+7 more
GConflicting classifications of pathogenicity
RET
(S201T +1 more)
Single nucleotide variant
(missense variant)
Hirschsprung disease, susceptibility to, 1
+7 more
GConflicting classifications of pathogenicity
RET
(N1059S +17 more)
Single nucleotide variant
(missense variant)
Hirschsprung disease, susceptibility to, 1
+6 more
GUncertain significance
RET
(S339L +3 more)
Single nucleotide variant
(missense variant)
Multiple endocrine neoplasia type 2A
+6 more
GConflicting classifications of pathogenicity
RET
Single nucleotide variant
(synonymous variant +1 more)
Hirschsprung disease, susceptibility to, 1
+6 more
GLikely benign
RET
Single nucleotide variant
(synonymous variant +1 more)
Hirschsprung disease, susceptibility to, 1
+6 more
GLikely benign
RET
Single nucleotide variant
(synonymous variant)
Hirschsprung disease, susceptibility to, 1
+6 more
GLikely benign
RET
Single nucleotide variant
(synonymous variant)
Hirschsprung disease, susceptibility to, 1
+7 more
GLikely benign
RET
(P1067S)
Single nucleotide variant
(missense variant)
Hirschsprung disease, susceptibility to, 1
+7 more
GConflicting classifications of pathogenicity
RET
(G849D +17 more)
Single nucleotide variant
(missense variant)
Hirschsprung disease, susceptibility to, 1
+5 more
GUncertain significance
RET
(G385V +6 more)
Single nucleotide variant
(missense variant)
Hirschsprung disease, susceptibility to, 1
+6 more
GUncertain significance
RET
(R886Q +17 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+8 more
GConflicting classifications of pathogenicity
RET
(P117H)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+6 more
GUncertain significance
RET
(A999V +17 more)
Single nucleotide variant
(missense variant)
Hirschsprung disease, susceptibility to, 1
+6 more
GUncertain significance
RET
(D380N +6 more)
Single nucleotide variant
(missense variant)
Hirschsprung disease, susceptibility to, 1
+5 more
GUncertain significance
RET
(V193L +1 more)
Single nucleotide variant
(missense variant)
Hirschsprung disease, susceptibility to, 1
+6 more
GUncertain significance
RET
Single nucleotide variant
(intron variant)
Multiple endocrine neoplasia, type 2
+7 more
GConflicting classifications of pathogenicity
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