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Items: 53

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RET
(C151F +14 more)
Indel
(missense variant)
Multiple endocrine neoplasia, type 2
GPathogenic
LOC107303340, VHL
(R120P +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
GPathogenic
LOC107303340, VHL
Deletion
(inframe_deletion +1 more)
Hereditary cancer-predisposing syndrome
GLikely pathogenic
LOC107303340, VHL
(F119L)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
GLikely pathogenic
RET
Inversion
(missense variant)
Multiple endocrine neoplasia, type 2
GPathogenic
LOC107303340, VHL
(L157Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Von Hippel-Lindau syndrome
+1 more
GLikely pathogenic
RET
(C380L +14 more)
Indel
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GConflicting classifications of pathogenicity
LOC107303340, VHL
(F119L)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GPathogenic
VHL
(S68L)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
LOC107303340, VHL
(R161G +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GPathogenic
VHL
(E94*)
Single nucleotide variant
(nonsense)
Hereditary cancer-predisposing syndrome
+2 more
GPathogenic
VHL
(G93V)
Indel
(missense variant)
Chuvash polycythemia
+2 more
GLikely pathogenic
LOC107303340, VHL
(F136C)
Single nucleotide variant
(missense variant +1 more)
Von Hippel-Lindau syndrome
+1 more
GConflicting classifications of pathogenicity
LOC107303340, VHL
(F119L)
Single nucleotide variant
(missense variant +1 more)
Von Hippel-Lindau syndrome
+2 more
GPathogenic
VHL
(G93D)
Single nucleotide variant
(missense variant)
Chuvash polycythemia
+1 more
GPathogenic
SDHD
(W105* +1 more)
Single nucleotide variant
(nonsense +2 more)
Hereditary cancer-predisposing syndrome
+5 more
GPathogenic
LOC107303340, VHL
(Q195* +1 more)
Single nucleotide variant
(nonsense +1 more)
Von Hippel-Lindau syndrome
+1 more
GPathogenic
SDHD
(Q121* +1 more)
Single nucleotide variant
(synonymous variant +3 more)
Pheochromocytoma
+3 more
GPathogenic/Likely pathogenic
SDHB
(C196Y)
Single nucleotide variant
(missense variant)
not provided
+4 more
GPathogenic
LOC107303340, VHL
(V155M)
Single nucleotide variant
(missense variant +1 more)
Von Hippel-Lindau syndrome
+1 more
GPathogenic
VHL
(R107H)
Single nucleotide variant
(missense variant)
VHL-related condition
+3 more
GPathogenic
VHL
(G93R)
Single nucleotide variant
(missense variant)
Chuvash polycythemia
+2 more
GLikely pathogenic
SDHB
(R242C)
Single nucleotide variant
(missense variant)
not provided
+5 more
GPathogenic/Likely pathogenic
SDHB
(C192R)
Single nucleotide variant
(missense variant)
not provided
+4 more
GPathogenic
LOC107303340, VHL
(R161Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Von Hippel-Lindau syndrome
+3 more
GPathogenic
SDHB
(C192Y)
Single nucleotide variant
(missense variant)
Gastrointestinal stromal tumor
+3 more
GPathogenic
SDHB
(W200*)
Single nucleotide variant
(nonsense)
Paragangliomas 4
+4 more
GPathogenic/Likely pathogenic
SDHB
(C192S)
Single nucleotide variant
(missense variant)
Paragangliomas 4
+2 more
GConflicting classifications of pathogenicity
LOC107303340, VHL
(Y156C +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GPathogenic
VHL
(R107G)
Single nucleotide variant
(missense variant)
Von Hippel-Lindau syndrome
+4 more
GPathogenic/Likely pathogenic
RET
(Y791F +17 more)
Single nucleotide variant
(missense variant)
not specified
+9 more
GBenign/Likely benign
RET
(C634W +14 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic
RET
(C634R +14 more)
Single nucleotide variant
(missense variant)
Thyroid gland carcinoma
+5 more
GPathogenic/Likely pathogenic
RET
(C634F +14 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GPathogenic
RET
(C634S +14 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic
RET
(C634Y +14 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GPathogenic
RET
(C634G +14 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GPathogenic
RET
(C634R +44 more)
Single nucleotide variant
(missense variant)
MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA
GPathogenic
SDHB
(C101Y)
Single nucleotide variant
(missense variant)
Paragangliomas 4
GPathogenic
SDHB
(R46G)
Single nucleotide variant
(missense variant)
Gastrointestinal stromal tumor
+3 more
GPathogenic
SDHB
(R27*)
Single nucleotide variant
(nonsense)
Gastrointestinal stromal tumor
+5 more
GPathogenic
SDHB
(S239fs)
Microsatellite
(frameshift variant)
Hereditary pheochromocytoma-paraganglioma
+4 more
GPathogenic
SDHB
(R242H)
Single nucleotide variant
(missense variant)
not provided
+6 more
GPathogenic/Likely pathogenic
LOC126861339, SDHD
(W5*)
Single nucleotide variant
(nonsense +1 more)
Carney-Stratakis syndrome
+4 more
GPathogenic
LOC126861339, SDHD
(C11*)
Single nucleotide variant
(nonsense +1 more)
Hereditary cancer-predisposing syndrome
+5 more
GPathogenic
SDHD
(D92Y +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+6 more
GPathogenic/Likely pathogenic
SDHD
(R38*)
Single nucleotide variant
(nonsense +2 more)
Carney-Stratakis syndrome
+6 more
GPathogenic
VHL
(G93S)
Single nucleotide variant
(missense variant)
Chuvash polycythemia
+2 more
GPathogenic
LOC107303340, VHL
(L188V +1 more)
Single nucleotide variant
(missense variant +1 more)
Chuvash polycythemia
+4 more
GPathogenic/Likely pathogenic
VHL
(Y98H)
Single nucleotide variant
(missense variant)
not provided
+4 more
GPathogenic
LOC107303340, VHL
(R167W +1 more)
Single nucleotide variant
(missense variant +1 more)
Chuvash polycythemia
+5 more
GPathogenic/Likely pathogenic
LOC107303340, VHL
(R161* +1 more)
Single nucleotide variant
(nonsense +1 more)
Von Hippel-Lindau syndrome
+3 more
GPathogenic
LOC107303340, VHL
(R167Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Von Hippel-Lindau syndrome
+5 more
GConflicting classifications of pathogenicity
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