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Links from MedGen

Items: 1 to 100 of 393

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RET
(G169W +8 more)
Single nucleotide variant
(missense variant +1 more)
Multiple endocrine neoplasia type 2A
+1 more
GUncertain significance
RET
(E285D +17 more)
Indel
(missense variant)
Multiple endocrine neoplasia type 2A
+1 more
GPathogenic/Likely pathogenic
RET
(A516G +17 more)
Single nucleotide variant
(missense variant)
Multiple endocrine neoplasia type 2A
+1 more
GUncertain significance
RET
(A324G +17 more)
Single nucleotide variant
(missense variant)
Multiple endocrine neoplasia type 2A
+1 more
GUncertain significance
RET
Indel
(inframe_indel)
Multiple endocrine neoplasia type 2A
+1 more
GLikely pathogenic
RET
(A102V +8 more)
Single nucleotide variant
(missense variant)
Multiple endocrine neoplasia, type 2
+3 more
GUncertain significance
RET
(L150del +14 more)
Deletion
(inframe_indel +1 more)
Multiple endocrine neoplasia type 2A
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
KIF1B
(Y881C +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+2 more
GConflicting classifications of pathogenicity
RET
(K806R +17 more)
Single nucleotide variant
(missense variant)
Multiple endocrine neoplasia, type 2
+6 more
GUncertain significance
RET
(C609S +12 more)
Single nucleotide variant
(missense variant)
Multiple endocrine neoplasia, type 2
+2 more
GPathogenic
RET
Single nucleotide variant
(intron variant)
Multiple endocrine neoplasia type 2A
+1 more
GBenign
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
(N356H +12 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 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
(V1075fs)
Duplication
(frameshift variant)
Multiple endocrine neoplasia, type 2
+2 more
GConflicting classifications of pathogenicity
RET
(K757E +17 more)
Single nucleotide variant
(missense variant)
Pheochromocytoma
+6 more
GUncertain significance
RET
(Y761C +17 more)
Single nucleotide variant
(missense variant)
Pheochromocytoma
+7 more
GUncertain significance
RET
(R226P +2 more)
Single nucleotide variant
(missense variant)
Pheochromocytoma
+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)
Familial medullary thyroid carcinoma
+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)
RET-related disorder
+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)
Pheochromocytoma
+6 more
GUncertain significance
RET
(A350V +12 more)
Single nucleotide variant
(missense variant)
RET-related disorder
+6 more
GUncertain significance
RET
(S148F)
Single nucleotide variant
(missense variant)
Pheochromocytoma
+6 more
GUncertain significance
RET
(M1064I)
Single nucleotide variant
(missense variant)
Hirschsprung disease, susceptibility to, 1
+7 more
GConflicting classifications of pathogenicity
RET
(S158N +1 more)
Single nucleotide variant
(missense variant)
Multiple endocrine neoplasia type 2A
+2 more
GUncertain significance
RET
Single nucleotide variant
(intron variant)
Multiple endocrine neoplasia type 2B
+5 more
GUncertain significance
RET
(Y1062H +17 more)
Single nucleotide variant
(missense variant)
RET-related disorder
+7 more
GUncertain significance
RET
(R43H +3 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+6 more
GUncertain significance
RET
(M1009T +17 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GUncertain significance
RET
(F381L +6 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
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
(T48M)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
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)
Multiple endocrine neoplasia type 2A
+1 more
GLikely benign
RET
Single nucleotide variant
(intron variant)
Multiple endocrine neoplasia type 2A
GBenign
RET
Single nucleotide variant
(synonymous variant +1 more)
Hereditary cancer-predisposing syndrome
+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)
Hirschsprung disease, susceptibility to, 1
+6 more
GLikely benign
ALK
(L1033H)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 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 2
+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)
RET-related disorder
+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
(V945A +17 more)
Single nucleotide variant
(missense variant)
Multiple endocrine neoplasia type 2A
+1 more
GUncertain significance
RET
(D489V +8 more)
Single nucleotide variant
(missense variant)
Multiple endocrine neoplasia type 2A
GUncertain significance
RET
(E459D +8 more)
Single nucleotide variant
(missense variant)
Multiple endocrine neoplasia type 2A
+1 more
GUncertain significance
RET
(V395L +6 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
RET
(P218S +2 more)
Single nucleotide variant
(missense variant)
Multiple endocrine neoplasia type 2A
+6 more
GUncertain significance
RET
(A143V)
Single nucleotide variant
(missense variant)
Multiple endocrine neoplasia, type 2
+2 more
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)
Hirschsprung disease, susceptibility to, 1
+7 more
GUncertain significance
RET
(K710R +17 more)
Single nucleotide variant
(missense variant)
Renal hypodysplasia/aplasia 1
+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)
Pheochromocytoma
+7 more
GConflicting classifications of pathogenicity
RET
(Q626K +12 more)
Single nucleotide variant
(missense variant)
Multiple endocrine neoplasia type 2A
+2 more
GUncertain significance
RET
(N1059S +17 more)
Single nucleotide variant
(missense variant)
Hirschsprung disease, susceptibility to, 1
+6 more
GUncertain significance
RET
Single nucleotide variant
(3 prime UTR variant +2 more)
Multiple endocrine neoplasia type 2A
GUncertain significance
RET
Deletion
(intron variant)
Multiple endocrine neoplasia, type 2
+1 more
GLikely benign
RET
Single nucleotide variant
(intron variant)
Pheochromocytoma
+7 more
GConflicting classifications of pathogenicity
RET
Single nucleotide variant
(intron variant)
Multiple endocrine neoplasia type 2A
+2 more
GConflicting classifications of pathogenicity
RET
(S339L +3 more)
Single nucleotide variant
(missense variant)
Multiple endocrine neoplasia type 2A
+6 more
GConflicting classifications of pathogenicity
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