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Links from MedGen

Items: 1 to 100 of 1532

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC107303340, VHL
Deletion
(nonsense +2 more)
Von Hippel-Lindau syndrome
GPathogenic
VHL
(G57fs)
Deletion
(frameshift variant +1 more)
Von Hippel-Lindau syndrome
GPathogenic
LOC107303340, VHL
Single nucleotide variant
(intron variant +1 more)
Von Hippel-Lindau syndrome
GPathogenic
VHL
(V87fs)
Deletion
(frameshift variant +1 more)
Von Hippel-Lindau syndrome
GPathogenic
VHL
(S111R)
Single nucleotide variant
(missense variant +1 more)
Von Hippel-Lindau syndrome
GPathogenic
VHL
(Y98N)
Single nucleotide variant
(missense variant +1 more)
Von Hippel-Lindau syndrome
GPathogenic
LOC107303339, LOC107303340
+1 more
Deletion
Von Hippel-Lindau syndrome
GPathogenic
VHL
(S72fs)
Deletion
(non-coding transcript variant +1 more)
Von Hippel-Lindau syndrome
GPathogenic
LOC107303340, VHL
(E158fs +1 more)
Deletion
(frameshift variant +2 more)
Von Hippel-Lindau syndrome
GPathogenic
VHL
Duplication
Von Hippel-Lindau syndrome
+1 more
GUncertain significance
VHL
(V87I)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
LOC107303340, VHL
(P131S +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
LOC107303340, VHL
(V114G +1 more)
Single nucleotide variant
(missense variant +1 more)
Von Hippel-Lindau syndrome
+1 more
GLikely pathogenic
LOC107303340, VHL
(D121N)
Single nucleotide variant
(missense variant +1 more)
Von Hippel-Lindau syndrome
+1 more
GPathogenic
VHL
(S111C)
Indel
(missense variant)
Von Hippel-Lindau syndrome
+1 more
GPathogenic
LOC107303340, VHL
Single nucleotide variant
(intron variant)
Von Hippel-Lindau syndrome
+1 more
GLikely benign
LOC107303340, VHL
(M211I +1 more)
Single nucleotide variant
(missense variant +1 more)
Von Hippel-Lindau syndrome
+1 more
GUncertain significance
VHL
(E26G)
Single nucleotide variant
(missense variant)
Von Hippel-Lindau syndrome
+1 more
GUncertain significance
LOC107303340, VHL
(S146R)
Single nucleotide variant
(missense variant +1 more)
Von Hippel-Lindau syndrome
+1 more
GUncertain significance
VHL
(E6Q)
Single nucleotide variant
(missense variant)
Von Hippel-Lindau syndrome
+1 more
GUncertain significance
VHL
(P59L)
Single nucleotide variant
(missense variant)
Chuvash polycythemia
+1 more
GUncertain significance
VHL
Single nucleotide variant
(intron variant)
Chuvash polycythemia
+1 more
GLikely benign
LOC107303340, VHL
Single nucleotide variant
(intron variant)
Chuvash polycythemia
+1 more
GLikely benign
LOC107303340, VHL
Duplication
(intron variant)
Chuvash polycythemia
+1 more
GBenign
LOC107303340, VHL
Single nucleotide variant
(intron variant)
Chuvash polycythemia
+1 more
GLikely benign
LOC107303340, VHL
(I165V +1 more)
Single nucleotide variant
(missense variant +1 more)
Chuvash polycythemia
+1 more
GUncertain significance
VHL
(E55V)
Single nucleotide variant
(missense variant)
Chuvash polycythemia
+1 more
GUncertain significance
VHL
Single nucleotide variant
(intron variant)
Chuvash polycythemia
+1 more
GLikely benign
LOC107303340, VHL
(K130E +1 more)
Single nucleotide variant
(missense variant +1 more)
Chuvash polycythemia
+1 more
GUncertain significance
LOC107303340, VHL
(R170S)
Single nucleotide variant
(missense variant +1 more)
Chuvash polycythemia
+1 more
GUncertain significance
VHL
(S65fs)
Duplication
(frameshift variant)
Chuvash polycythemia
+1 more
GPathogenic
LOC107303340, VHL
Single nucleotide variant
(synonymous variant +2 more)
Chuvash polycythemia
+1 more
GLikely benign
LOC107303340, VHL
Single nucleotide variant
(synonymous variant +2 more)
Chuvash polycythemia
+1 more
GUncertain significance
VHL
Single nucleotide variant
(synonymous variant +1 more)
Chuvash polycythemia
+1 more
GLikely benign
VHL
Duplication
(inframe_insertion)
Chuvash polycythemia
+1 more
GUncertain significance
LOC107303340, VHL
Single nucleotide variant
(synonymous variant +2 more)
Chuvash polycythemia
+1 more
GUncertain significance
VHL
(M1K)
Single nucleotide variant
(missense variant +1 more)
Von Hippel-Lindau syndrome
+1 more
GUncertain significance
LOC107303340, VHL
(Y134* +1 more)
Duplication
(nonsense +1 more)
Chuvash polycythemia
+1 more
GPathogenic
LOC107303340, VHL
(G175D)
Single nucleotide variant
(missense variant +1 more)
Chuvash polycythemia
+1 more
GUncertain significance
LOC107303340, VHL
(Y144F +1 more)
Single nucleotide variant
(missense variant +1 more)
Chuvash polycythemia
+1 more
GUncertain significance
LOC107303340, VHL
(C176R)
Single nucleotide variant
(missense variant +1 more)
Chuvash polycythemia
+1 more
GUncertain significance
LOC107303340, VHL
(D140G)
Single nucleotide variant
(missense variant +1 more)
Chuvash polycythemia
+1 more
GUncertain significance
VHL
Single nucleotide variant
(intron variant)
Von Hippel-Lindau syndrome
+1 more
GLikely benign
LOC107303340, VHL
Duplication
(frameshift variant +2 more)
Von Hippel-Lindau syndrome
+1 more
GUncertain significance
LOC107303340, VHL
(A152V)
Single nucleotide variant
(missense variant +1 more)
Von Hippel-Lindau syndrome
+1 more
GUncertain significance
LOC107303340, VHL
(W159R)
Single nucleotide variant
(missense variant +1 more)
Von Hippel-Lindau syndrome
+1 more
GUncertain significance
LOC107303340, VHL
Single nucleotide variant
(intron variant)
Von Hippel-Lindau syndrome
+1 more
GLikely benign
LOC107303340, VHL
(V114A)
Single nucleotide variant
(missense variant +1 more)
Von Hippel-Lindau syndrome
+1 more
GUncertain significance
LOC107303340, VHL
Single nucleotide variant
(synonymous variant +2 more)
Von Hippel-Lindau syndrome
+1 more
GLikely benign
VHL
(H110N)
Single nucleotide variant
(missense variant)
Von Hippel-Lindau syndrome
+1 more
GUncertain significance
LOC107303340, VHL
(Q145R)
Single nucleotide variant
(missense variant +1 more)
Von Hippel-Lindau syndrome
+1 more
GUncertain significance
LOC107303340, VHL
Single nucleotide variant
(synonymous variant +2 more)
Chuvash polycythemia
+1 more
GUncertain significance
LOC107303340, VHL
(S127N +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
LOC107303340, VHL
(W117R)
Single nucleotide variant
(missense variant +1 more)
Chuvash polycythemia
+1 more
GPathogenic
VHL
(V62fs)
Deletion
(frameshift variant)
Chuvash polycythemia
+1 more
GPathogenic
LOC107303340, VHL
(T139P)
Single nucleotide variant
(missense variant +1 more)
Chuvash polycythemia
+1 more
GUncertain significance
LOC107303340, VHL
(T132A)
Single nucleotide variant
(missense variant +1 more)
Chuvash polycythemia
+1 more
GUncertain significance
LOC107303340, VHL
Single nucleotide variant
(intron variant)
Chuvash polycythemia
+1 more
GLikely benign
LOC107303340, VHL
(E188A)
Single nucleotide variant
(missense variant +1 more)
Chuvash polycythemia
+1 more
GUncertain significance
VHL
Single nucleotide variant
(synonymous variant +1 more)
Chuvash polycythemia
+1 more
GLikely benign
VHL
Single nucleotide variant
(synonymous variant +1 more)
Chuvash polycythemia
+1 more
GLikely benign
VHL
(R79L)
Single nucleotide variant
(missense variant)
Chuvash polycythemia
+1 more
GUncertain significance
VHL
(G29C)
Single nucleotide variant
(missense variant)
Chuvash polycythemia
+1 more
GUncertain significance
LOC107303340, VHL
(T145fs)
Duplication
(frameshift variant +1 more)
Chuvash polycythemia
+1 more
GUncertain significance
VHL
(E70A)
Single nucleotide variant
(missense variant)
Von Hippel-Lindau syndrome
+1 more
GUncertain significance
VHL
(R108L)
Single nucleotide variant
(missense variant)
Von Hippel-Lindau syndrome
+1 more
GUncertain significance
VHL
(M54R)
Single nucleotide variant
(missense variant)
Chuvash polycythemia
+1 more
GLikely pathogenic
LOC107303340, VHL
Single nucleotide variant
(intron variant)
Chuvash polycythemia
+1 more
GLikely benign
LOC107303340, VHL
Single nucleotide variant
(intron variant +1 more)
Von Hippel-Lindau syndrome
+1 more
GPathogenic
LOC107303340, VHL
(A152S)
Single nucleotide variant
(missense variant +1 more)
Chuvash polycythemia
+1 more
GUncertain significance
LOC107303340, VHL
(G136fs)
Insertion
(frameshift variant +1 more)
Chuvash polycythemia
+1 more
GUncertain significance
LOC107303340, VHL
Single nucleotide variant
(3 prime UTR variant +1 more)
Chuvash polycythemia
+1 more
GUncertain significance
VHL
(C77*)
Single nucleotide variant
(nonsense)
Chuvash polycythemia
+1 more
GPathogenic
VHL
Single nucleotide variant
(synonymous variant +1 more)
Chuvash polycythemia
+1 more
GLikely benign
LOC107303340, VHL
(G153fs)
Deletion
(frameshift variant +1 more)
Chuvash polycythemia
+1 more
GUncertain significance
LOC107303340, VHL
(P167R)
Single nucleotide variant
(missense variant +1 more)
Chuvash polycythemia
+1 more
GUncertain significance
VHL
(P2H)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
LOC107303340, VHL
(P185fs)
Deletion
(frameshift variant +1 more)
Chuvash polycythemia
+1 more
GUncertain significance
LOC107303340, VHL
Single nucleotide variant
(intron variant)
Chuvash polycythemia
+1 more
GLikely benign
LOC107303340, VHL
Single nucleotide variant
(synonymous variant +2 more)
Chuvash polycythemia
+1 more
GUncertain significance
VHL
(R79S)
Single nucleotide variant
(missense variant)
Chuvash polycythemia
+1 more
GUncertain significance
LOC107303340, VHL
(S179L)
Single nucleotide variant
(missense variant +1 more)
Chuvash polycythemia
+1 more
GUncertain significance
VHL
Duplication
(intron variant)
Chuvash polycythemia
+1 more
GLikely benign
LOC107303340, VHL
Single nucleotide variant
(synonymous variant +2 more)
Chuvash polycythemia
+1 more
GUncertain significance
LOC107303340, VHL
(K187fs)
Deletion
(frameshift variant +1 more)
Chuvash polycythemia
+1 more
GUncertain significance
LOC107303340, VHL
(R157S)
Single nucleotide variant
(missense variant +1 more)
Chuvash polycythemia
+1 more
GLikely benign
VHL
(E32K)
Single nucleotide variant
(missense variant)
Chuvash polycythemia
+1 more
GUncertain significance
VHL
(H110fs)
Duplication
(frameshift variant)
Chuvash polycythemia
+1 more
GPathogenic
LOC107303340, VHL
Single nucleotide variant
(synonymous variant +2 more)
Chuvash polycythemia
+1 more
GUncertain significance
LOC107303340, VHL
Single nucleotide variant
(intron variant)
Chuvash polycythemia
+1 more
GUncertain significance
LOC107303340, VHL
Single nucleotide variant
(intron variant)
Von Hippel-Lindau syndrome
+1 more
GLikely benign
VHL
(E41A)
Single nucleotide variant
(missense variant)
Von Hippel-Lindau syndrome
+1 more
GUncertain significance
LOC107303340, VHL
(C123S)
Single nucleotide variant
(missense variant +1 more)
Von Hippel-Lindau syndrome
+1 more
GUncertain significance
LOC107303340, VHL
Single nucleotide variant
(synonymous variant +2 more)
Von Hippel-Lindau syndrome
+1 more
GLikely benign
LOC107303340, VHL
Single nucleotide variant
(intron variant +2 more)
Von Hippel-Lindau syndrome
+1 more
GUncertain significance
VHL
(L48M)
Single nucleotide variant
(missense variant)
Von Hippel-Lindau syndrome
+1 more
GUncertain significance
LOC107303340, VHL
Single nucleotide variant
(synonymous variant +2 more)
Chuvash polycythemia
+1 more
GUncertain significance
VHL
(E94V)
Single nucleotide variant
(missense variant)
Chuvash polycythemia
+1 more
GUncertain significance
LOC107303340, VHL
(C174fs)
Deletion
(frameshift variant +1 more)
Chuvash polycythemia
+1 more
GUncertain significance
VHL
(G39A)
Single nucleotide variant
(missense variant)
Chuvash polycythemia
+1 more
GUncertain significance
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