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Links from MedGen

Items: 1 to 100 of 2711

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KIF1B
(M1025V)
Single nucleotide variant
(missense variant +1 more)
Pheochromocytoma
GUncertain significance
KIF1B
(S293G)
Single nucleotide variant
(missense variant +1 more)
Pheochromocytoma
GUncertain significance
KIF1B
(D1711E +1 more)
Single nucleotide variant
(missense variant)
Pheochromocytoma
GUncertain significance
KIF1B
(K1123E)
Single nucleotide variant
(missense variant +1 more)
Pheochromocytoma
GUncertain significance
RET
(Y620N +17 more)
Single nucleotide variant
(missense variant)
Multiple endocrine neoplasia type 2B
+4 more
GUncertain significance
RET
(L641P +17 more)
Single nucleotide variant
(missense variant)
Multiple endocrine neoplasia type 2B
+4 more
GUncertain significance
RET
(S456L +17 more)
Single nucleotide variant
(missense variant)
Multiple endocrine neoplasia type 2B
+4 more
GLikely pathogenic
RET
(S565I +16 more)
Single nucleotide variant
(missense variant)
Multiple endocrine neoplasia type 2B
+4 more
GUncertain significance
RET
(V352I +17 more)
Single nucleotide variant
(missense variant)
Multiple endocrine neoplasia type 2B
+4 more
GUncertain significance
RET
(F432L +17 more)
Single nucleotide variant
(missense variant)
Multiple endocrine neoplasia type 2B
+4 more
GUncertain significance
RET
(D312A +17 more)
Single nucleotide variant
(missense variant)
Multiple endocrine neoplasia type 2B
+4 more
GUncertain significance
RET
(A181D +14 more)
Single nucleotide variant
(missense variant +1 more)
Multiple endocrine neoplasia type 2B
+4 more
GUncertain significance
RET
(K134R +12 more)
Single nucleotide variant
(missense variant +1 more)
Multiple endocrine neoplasia type 2B
+4 more
GUncertain significance
RET
(P209S +3 more)
Single nucleotide variant
(missense variant +1 more)
Multiple endocrine neoplasia type 2B
+4 more
GUncertain significance
RET
(F176L +3 more)
Single nucleotide variant
(missense variant +1 more)
Multiple endocrine neoplasia type 2B
+4 more
GUncertain significance
RET
(R119G +2 more)
Single nucleotide variant
(5 prime UTR variant +2 more)
Multiple endocrine neoplasia type 2B
+4 more
GUncertain significance
RET
(S201N +1 more)
Single nucleotide variant
(missense variant +1 more)
Multiple endocrine neoplasia type 2B
+4 more
GUncertain significance
RET
(K118R +1 more)
Single nucleotide variant
(missense variant +1 more)
Multiple endocrine neoplasia type 2B
+4 more
GUncertain significance
RET
(Q138R)
Single nucleotide variant
(missense variant +1 more)
Multiple endocrine neoplasia type 2B
+4 more
GUncertain significance
LOC107303340, VHL
(Y185S +1 more)
Single nucleotide variant
(missense variant +2 more)
Pheochromocytoma
+3 more
GUncertain significance
LOC107303340, VHL
(R141S +1 more)
Single nucleotide variant
(missense variant +2 more)
Pheochromocytoma
+3 more
GUncertain significance
VHL
(G104R)
Single nucleotide variant
(missense variant +1 more)
Pheochromocytoma
+3 more
GUncertain significance
VHL
(A11G)
Single nucleotide variant
(missense variant +1 more)
Pheochromocytoma
+3 more
GUncertain significance
LOC129934333, TMEM127
(G20V)
Single nucleotide variant
(missense variant +1 more)
Pheochromocytoma
GUncertain significance
TMEM127
(Y178* +1 more)
Single nucleotide variant
(nonsense)
Pheochromocytoma
GLikely pathogenic
MAX
(S69fs +2 more)
Deletion
(frameshift variant +2 more)
Pheochromocytoma
+1 more
GUncertain significance
VHL
(T105fs)
Deletion
(frameshift variant +1 more)
Nonpapillary renal cell carcinoma
+3 more
GPathogenic
TMEM127
(E65fs)
Deletion
(frameshift variant +1 more)
Pheochromocytoma
GLikely pathogenic
SDHD
(R38fs)
Deletion
(frameshift variant +2 more)
Pheochromocytoma
+3 more
GLikely pathogenic
MAX
(K81R +1 more)
Single nucleotide variant
(missense variant +3 more)
Pheochromocytoma
GUncertain significance
SDHB
Deletion
Gastrointestinal stromal tumor
+2 more
GLikely pathogenic
SDHB
Duplication
Gastrointestinal stromal tumor
+2 more
GUncertain significance
SDHB
Duplication
Gastrointestinal stromal tumor
+2 more
GUncertain significance
SDHB
Duplication
Gastrointestinal stromal tumor
+2 more
GUncertain significance
SDHB
Duplication
Gastrointestinal stromal tumor
+2 more
GLikely pathogenic
SDHB
Deletion
Gastrointestinal stromal tumor
+2 more
GPathogenic
SDHD
Deletion
Carney-Stratakis syndrome
+3 more
GLikely pathogenic
SDHD
Deletion
Carney-Stratakis syndrome
+3 more
GPathogenic
MAX
(L113I +4 more)
Single nucleotide variant
(missense variant +3 more)
Pheochromocytoma
GUncertain significance
TMEM127
(G67A)
Single nucleotide variant
(missense variant +1 more)
Pheochromocytoma
GUncertain significance
TMEM127
(A150G +1 more)
Single nucleotide variant
(missense variant)
Pheochromocytoma
GUncertain significance
TMEM127
(I134V +1 more)
Single nucleotide variant
(missense variant)
Pheochromocytoma
GUncertain significance
RET
(L286F +17 more)
Indel
(missense variant)
Hirschsprung disease, susceptibility to, 1
+4 more
GUncertain significance
RET
(T92S)
Single nucleotide variant
(missense variant +1 more)
Hirschsprung disease, susceptibility to, 1
+5 more
GUncertain significance
VHL
(E27A)
Single nucleotide variant
(missense variant +1 more)
Von Hippel-Lindau syndrome
+3 more
GUncertain significance
ADRA2B, ASTL
+4 more
Deletion
Pheochromocytoma
GUncertain significance
RET
Single nucleotide variant
(intron variant)
Multiple endocrine neoplasia, type 2
+5 more
GConflicting classifications of pathogenicity
SDHB
(D48fs)
Duplication
(frameshift variant)
Pheochromocytoma
+2 more
GPathogenic
SDHB
(R91T)
Single nucleotide variant
(missense variant)
Pheochromocytoma
+2 more
GUncertain significance
SDHD
Single nucleotide variant
(3 prime UTR variant +2 more)
Pheochromocytoma
+3 more
GUncertain significance
SDHB
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
+3 more
GLikely benign
SDHD
(M116T +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
Pheochromocytoma
+3 more
GUncertain significance
SDHD
(R77K)
Single nucleotide variant
(missense variant +3 more)
Pheochromocytoma
+3 more
GLikely benign
SDHD
Duplication
(intron variant)
Pheochromocytoma
+3 more
GLikely benign
SDHB
(A52S)
Single nucleotide variant
(missense variant)
Pheochromocytoma
+2 more
GUncertain significance
SDHD
(L25V +1 more)
Single nucleotide variant
(missense variant +2 more)
Pheochromocytoma
+3 more
GUncertain significance
SDHB
(I248N +1 more)
Single nucleotide variant
(missense variant)
Pheochromocytoma
+2 more
GUncertain significance
SDHD
Single nucleotide variant
(intron variant)
Pheochromocytoma
+3 more
GUncertain significance
SDHD
(A126S +2 more)
Single nucleotide variant
(missense variant +2 more)
Pheochromocytoma
+3 more
GUncertain significance
SDHD
Single nucleotide variant
(intron variant)
Pheochromocytoma
+3 more
GLikely benign
SDHB
(K78M)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
SDHB
(A43V)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GUncertain significance
SDHB
Single nucleotide variant
(synonymous variant)
Pheochromocytoma
+2 more
GLikely benign
SDHD
(L117V +1 more)
Single nucleotide variant
(missense variant +2 more)
Pheochromocytoma
+3 more
GUncertain significance
SDHD
Single nucleotide variant
(intron variant)
Pheochromocytoma
+3 more
GLikely benign
SDHD
(D118I +2 more)
Indel
(missense variant +2 more)
Pheochromocytoma
+3 more
GUncertain significance
SDHB
(M58I)
Single nucleotide variant
(missense variant)
Pheochromocytoma
+2 more
GUncertain significance
SDHB
(W200C +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
SDHB
Single nucleotide variant
(intron variant)
Pheochromocytoma
+2 more
GLikely benign
SDHD
(G79S +2 more)
Single nucleotide variant
(missense variant +2 more)
Pheochromocytoma
+3 more
GUncertain significance
SDHB
Single nucleotide variant
(intron variant)
Pheochromocytoma
+2 more
GLikely benign
SDHB
(K167R +1 more)
Single nucleotide variant
(missense variant)
Pheochromocytoma
+2 more
GUncertain significance
SDHD
Single nucleotide variant
(splice acceptor variant +1 more)
Hereditary cancer-predisposing syndrome
+4 more
GPathogenic/Likely pathogenic
SDHB
(A244fs +1 more)
Deletion
(frameshift variant)
Pheochromocytoma
+2 more
GPathogenic
SDHB
Single nucleotide variant
(intron variant)
Pheochromocytoma
+2 more
GLikely benign
SDHB
(P129T)
Single nucleotide variant
(missense variant +1 more)
Pheochromocytoma
+2 more
GUncertain significance
SDHB
(P49fs)
Deletion
(frameshift variant)
Pheochromocytoma
+2 more
GPathogenic
SDHD
Single nucleotide variant
(intron variant +2 more)
Pheochromocytoma
+3 more
GLikely benign
SDHD
(D53fs +1 more)
Duplication
(frameshift variant +2 more)
Pheochromocytoma
+3 more
GPathogenic
SDHB
(D224N +1 more)
Single nucleotide variant
(missense variant)
Pheochromocytoma
+2 more
GUncertain significance
SDHB
Single nucleotide variant
(intron variant)
Pheochromocytoma
+2 more
GLikely benign
SDHD
(D60F +2 more)
Indel
(missense variant +2 more)
Pheochromocytoma
+3 more
GUncertain significance
SDHB
(R233fs +1 more)
Deletion
(frameshift variant)
Pheochromocytoma
+2 more
GPathogenic
SDHB
Single nucleotide variant
(intron variant)
Pheochromocytoma
+2 more
GLikely benign
SDHB
Single nucleotide variant
(splice acceptor variant)
Pheochromocytoma
+2 more
GPathogenic
SDHB
Single nucleotide variant
(synonymous variant)
Pheochromocytoma
+2 more
GLikely benign
SDHB
(P49Q)
Single nucleotide variant
(missense variant)
Pheochromocytoma
+2 more
GUncertain significance
SDHD
Single nucleotide variant
(synonymous variant +2 more)
Pheochromocytoma
+3 more
GLikely benign
SDHB
Single nucleotide variant
(synonymous variant)
Pheochromocytoma
+2 more
GLikely benign
SDHD
(D92N +1 more)
Single nucleotide variant
(missense variant +2 more)
Pheochromocytoma
+3 more
GUncertain significance
LOC129929542, SDHB
Single nucleotide variant
(synonymous variant)
Pheochromocytoma
+2 more
GLikely benign
SDHB
(G96R)
Single nucleotide variant
(missense variant)
Pheochromocytoma
+2 more
GUncertain significance
SDHD
(A22P +1 more)
Single nucleotide variant
(missense variant +2 more)
Pheochromocytoma
+3 more
GUncertain significance
SDHB
(K137N)
Single nucleotide variant
(missense variant +1 more)
Pheochromocytoma
+2 more
GUncertain significance
SDHD
Single nucleotide variant
(3 prime UTR variant +2 more)
Pheochromocytoma
+3 more
GLikely benign
SDHB
(P236R +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
SDHD
(C44*)
Single nucleotide variant
(nonsense +2 more)
Pheochromocytoma
+3 more
GPathogenic
SDHB
(I79T)
Single nucleotide variant
(missense variant)
Pheochromocytoma
+2 more
GUncertain significance
SDHB
(K160E +1 more)
Single nucleotide variant
(missense variant)
Pheochromocytoma
+2 more
GUncertain significance
SDHB
(R94I)
Single nucleotide variant
(missense variant)
Pheochromocytoma
+2 more
GUncertain significance
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