U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 42

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
VHL
(A5fs)
Duplication
(frameshift variant +1 more)
Hereditary cancer-predisposing syndrome
+5 more
GUncertain significance
VHL
(E10K)
Single nucleotide variant
(missense variant)
Von Hippel-Lindau syndrome
+5 more
GConflicting classifications of pathogenicity
VHL
(G24C)
Single nucleotide variant
(missense variant)
Chuvash polycythemia
+4 more
GUncertain significance
VHL
(E42A)
Single nucleotide variant
(missense variant)
Chuvash polycythemia
+5 more
GUncertain significance
VHL
(E52*)
Single nucleotide variant
(nonsense)
Von Hippel-Lindau syndrome
+7 more
GUncertain significance
VHL
(A56G)
Single nucleotide variant
(missense variant)
Von Hippel-Lindau syndrome
+5 more
GUncertain significance
VHL
(R69G)
Single nucleotide variant
(missense variant)
Chuvash polycythemia
+5 more
GUncertain significance
VHL
(D92V)
Single nucleotide variant
(missense variant)
Von Hippel-Lindau syndrome
+6 more
GUncertain significance
LOC107303340, VHL
(N141S)
Single nucleotide variant
(missense variant +1 more)
not provided
+5 more
GUncertain significance
LOC107303340, VHL
(I147V)
Single nucleotide variant
(missense variant +1 more)
Von Hippel-Lindau syndrome
+6 more
GUncertain significance
LOC107303340, VHL
(R167W +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+5 more
GPathogenic/Likely pathogenic
LOC107303340, VHL
(V170I +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+5 more
GUncertain significance
LOC107303340, VHL
(Y185C +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+6 more
GConflicting classifications of pathogenicity
LOC107303340, VHL
(P192S +1 more)
Single nucleotide variant
(missense variant +1 more)
Von Hippel-Lindau syndrome
+5 more
GConflicting classifications of pathogenicity
LOC107303340, VHL
(G212* +1 more)
Single nucleotide variant
(nonsense +1 more)
Von Hippel-Lindau syndrome
GUncertain significance
HNF1A
(P291Q)
Single nucleotide variant
(missense variant)
Monogenic diabetes
GLikely benign
HNF1A
(M493T)
Single nucleotide variant
(missense variant)
Nonpapillary renal cell carcinoma
+2 more
GUncertain significance/Uncertain risk allele
FLCN
(R588L +1 more)
Single nucleotide variant
(missense variant)
Colorectal cancer
+6 more
GConflicting classifications of pathogenicity
FLCN
(N546S +1 more)
Single nucleotide variant
(missense variant)
not specified
+7 more
GConflicting classifications of pathogenicity
FLCN
(K534R +1 more)
Single nucleotide variant
(missense variant)
Colorectal cancer
+6 more
GUncertain significance
FLCN
(Q458R +1 more)
Single nucleotide variant
(missense variant)
not provided
+6 more
GConflicting classifications of pathogenicity
FLCN
(E455K +1 more)
Single nucleotide variant
(missense variant)
Nonpapillary renal cell carcinoma
+7 more
GConflicting classifications of pathogenicity
FLCN
(V457M +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+7 more
GUncertain significance
FLCN
(H447fs +1 more)
Duplication
(frameshift variant)
Hereditary cancer-predisposing syndrome
+7 more
GPathogenic
FLCN
(H429D +1 more)
Single nucleotide variant
(missense variant)
Birt-Hogg-Dube syndrome 1
+7 more
GUncertain significance
FLCN
(H447fs +1 more)
Deletion
(frameshift variant)
Hereditary cancer-predisposing syndrome
+7 more
GPathogenic
FLCN
(P428H +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+7 more
GConflicting classifications of pathogenicity
FLCN
(G398A +1 more)
Single nucleotide variant
(missense variant)
Birt-Hogg-Dube syndrome 1
+6 more
GConflicting classifications of pathogenicity
FLCN
(R362C +1 more)
Single nucleotide variant
(missense variant)
FLCN-related disorder
+8 more
GConflicting classifications of pathogenicity
FLCN
(P278L +1 more)
Single nucleotide variant
(missense variant)
Birt-Hogg-Dube syndrome
+6 more
GUncertain significance
FLCN
(T263K +1 more)
Single nucleotide variant
(missense variant)
not provided
+7 more
GConflicting classifications of pathogenicity
FLCN
(N236S +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+6 more
GConflicting classifications of pathogenicity
FLCN
(Q212K +1 more)
Single nucleotide variant
(missense variant)
not provided
+7 more
GConflicting classifications of pathogenicity
FLCN
(G202S +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+6 more
GConflicting classifications of pathogenicity
FLCN
(F166L +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+6 more
GConflicting classifications of pathogenicity
FLCN
(F157del +1 more)
Microsatellite
(inframe_deletion)
Birt-Hogg-Dube syndrome
+7 more
GPathogenic/Likely pathogenic
FLCN
(V151M +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+6 more
GConflicting classifications of pathogenicity
FLCN
Single nucleotide variant
(splice acceptor variant)
Hereditary cancer-predisposing syndrome
+7 more
GPathogenic/Likely pathogenic
FLCN
(S68R)
Single nucleotide variant
(missense variant)
Birt-Hogg-Dube syndrome
+5 more
GUncertain significance
FLCN
(E47Q)
Single nucleotide variant
(missense variant)
Birt-Hogg-Dube syndrome
+6 more
GConflicting classifications of pathogenicity
FLCN
(A45V)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+7 more
GConflicting classifications of pathogenicity
FLCN
(P28S)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+6 more
GConflicting classifications of pathogenicity
Format
Items per page
Sort by
Choose Destination