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Items: 1 to 100 of 1000

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
VHL
Deletion
Chuvash polycythemia
+1 more
GPathogenic
VHL
Duplication
Chuvash polycythemia
+1 more
GUncertain significance
VHL
Duplication
Chuvash polycythemia
+1 more
GUncertain significance
VHL
Deletion
Chuvash polycythemia
+1 more
GPathogenic
VHL
Deletion
Chuvash polycythemia
+1 more
GPathogenic
IRAK2, VHL
Deletion
Chuvash polycythemia
+1 more
GPathogenic
LOC107303340, VHL
(T124fs)
Deletion
(frameshift variant +2 more)
Von Hippel-Lindau syndrome
GPathogenic
VHL
(R60fs)
Deletion
(frameshift variant +1 more)
Von Hippel-Lindau syndrome
GPathogenic
VHL
(S80R)
Single nucleotide variant
(missense variant +1 more)
Von Hippel-Lindau syndrome
+1 more
GLikely pathogenic
VHL
(A56D)
Single nucleotide variant
(missense variant +1 more)
Von Hippel-Lindau syndrome
GUncertain significance
VHL
Duplication
(5 prime UTR variant +1 more)
Von Hippel-Lindau syndrome
GUncertain significance
VHL
Single nucleotide variant
(5 prime UTR variant +1 more)
Von Hippel-Lindau syndrome
GUncertain significance
VHL
Single nucleotide variant
(5 prime UTR variant +1 more)
Von Hippel-Lindau syndrome
GLikely benign
VHL
Duplication
(5 prime UTR variant +1 more)
Von Hippel-Lindau syndrome
GUncertain significance
VHL
(G29V)
Single nucleotide variant
(missense variant +1 more)
Von Hippel-Lindau syndrome
GUncertain significance
VHL
(V13fs)
Duplication
(frameshift variant +1 more)
Von Hippel-Lindau syndrome
GUncertain significance
VHL
(E12V)
Single nucleotide variant
(missense variant +1 more)
Von Hippel-Lindau syndrome
GUncertain significance
VHL
(P2fs)
Insertion
(frameshift variant +1 more)
Von Hippel-Lindau syndrome
GUncertain significance
VHL
(P2fs)
Insertion
(frameshift variant +1 more)
Von Hippel-Lindau syndrome
GUncertain significance
VHL
(E27A)
Single nucleotide variant
(missense variant +1 more)
Von Hippel-Lindau syndrome
+1 more
GUncertain significance
VHL
Deletion
(5 prime UTR variant +1 more)
Von Hippel-Lindau syndrome
GUncertain significance
LOC107303340, VHL
Single nucleotide variant
(intron variant)
Von Hippel-Lindau syndrome
GLikely benign
VHL
(V74F)
Single nucleotide variant
(missense variant +1 more)
Von Hippel-Lindau syndrome
+1 more
GLikely pathogenic
VHL
(E6D)
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
Deletion
Von Hippel-Lindau syndrome
+1 more
GUncertain significance
VHL
Single nucleotide variant
(synonymous variant +1 more)
Von Hippel-Lindau syndrome
+1 more
GLikely benign
LOC107303340, VHL
Single nucleotide variant
(synonymous variant +2 more)
Von Hippel-Lindau syndrome
+1 more
GLikely benign
LOC107303340, VHL
(L128V +1 more)
Single nucleotide variant
(missense variant +2 more)
Von Hippel-Lindau syndrome
+2 more
GUncertain significance
LOC107303340, VHL
Single nucleotide variant
(intron variant)
Von Hippel-Lindau syndrome
+1 more
GLikely benign
LOC107303340, VHL
Single nucleotide variant
(intron variant)
Von Hippel-Lindau syndrome
+1 more
GLikely benign
LOC107303340, VHL
(V137fs)
Duplication
(frameshift variant +2 more)
Von Hippel-Lindau syndrome
+1 more
GPathogenic
LOC107303340, VHL
(H115N)
Single nucleotide variant
(missense variant +2 more)
Von Hippel-Lindau syndrome
+1 more
GUncertain significance
LOC107303340, VHL
Single nucleotide variant
(stop lost +2 more)
Von Hippel-Lindau syndrome
+1 more
GLikely pathogenic
VHL
(Y23N)
Single nucleotide variant
(missense variant +1 more)
Von Hippel-Lindau syndrome
+1 more
GUncertain significance
VHL
(E46D)
Single nucleotide variant
(missense variant +1 more)
Von Hippel-Lindau syndrome
+1 more
GUncertain significance
LOC107303340, VHL
(C121F +1 more)
Indel
(missense variant +2 more)
Von Hippel-Lindau syndrome
+1 more
GPathogenic
LOC107303340, VHL
Insertion
(inframe_insertion +2 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
(P154T)
Single nucleotide variant
(missense variant +2 more)
Von Hippel-Lindau syndrome
+1 more
GLikely pathogenic
LOC107303340, VHL
(L129fs)
Deletion
(frameshift variant +2 more)
Von Hippel-Lindau syndrome
+1 more
GPathogenic
LOC107303340, VHL
(R205P +1 more)
Single nucleotide variant
(missense variant +2 more)
Von Hippel-Lindau syndrome
+1 more
GUncertain significance
LOC107303340, VHL
Single nucleotide variant
(intron variant)
Chuvash polycythemia
+1 more
GUncertain significance
VHL
(E41G)
Single nucleotide variant
(missense variant +1 more)
Chuvash polycythemia
+1 more
GUncertain significance
VHL
(M54I)
Single nucleotide variant
(missense variant +1 more)
Chuvash polycythemia
+1 more
GLikely pathogenic
VHL
Single nucleotide variant
(synonymous variant +1 more)
Chuvash polycythemia
+1 more
GLikely benign
VHL
(P40T)
Single nucleotide variant
(missense variant +1 more)
Chuvash polycythemia
+1 more
GUncertain significance
LOC107303340, VHL
Indel
(intron variant)
Chuvash polycythemia
+1 more
GUncertain significance
VHL
Single nucleotide variant
(synonymous variant +1 more)
Chuvash polycythemia
+1 more
GLikely benign
VHL
(G104fs)
Insertion
(frameshift variant +1 more)
Chuvash polycythemia
+1 more
GPathogenic
LOC107303340, VHL
Single nucleotide variant
(splice donor variant +1 more)
Von Hippel-Lindau syndrome
+1 more
GUncertain significance
LOC107303340, VHL
Single nucleotide variant
(3 prime UTR variant +2 more)
Von Hippel-Lindau syndrome
+1 more
GUncertain significance
LOC107303340, VHL
Single nucleotide variant
(3 prime UTR variant +2 more)
Von Hippel-Lindau syndrome
+1 more
GUncertain significance
LOC107303340, VHL
Single nucleotide variant
(stop lost +2 more)
Von Hippel-Lindau syndrome
+1 more
GUncertain significance
LOC107303340, VHL
(E189D)
Single nucleotide variant
(missense variant +2 more)
Von Hippel-Lindau syndrome
+1 more
GLikely benign
LOC107303340, VHL
(V124E)
Single nucleotide variant
(intron variant +2 more)
Von Hippel-Lindau syndrome
+1 more
GUncertain significance
LOC107303340, VHL
(F122I)
Single nucleotide variant
(missense variant +2 more)
Von Hippel-Lindau syndrome
+1 more
GUncertain significance
VHL
Single nucleotide variant
(synonymous variant +1 more)
Von Hippel-Lindau syndrome
+1 more
GLikely benign
LOC107303340, VHL
(T117S)
Single nucleotide variant
(missense variant +2 more)
Von Hippel-Lindau syndrome
+1 more
GUncertain significance
LOC107303340, VHL
(R191S)
Single nucleotide variant
(missense variant +2 more)
Von Hippel-Lindau syndrome
+1 more
GLikely benign
LOC107303340, VHL
(V114G)
Single nucleotide variant
(missense variant +2 more)
Von Hippel-Lindau syndrome
+1 more
GUncertain significance
VHL
(E36fs)
Deletion
(frameshift 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
(synonymous variant +2 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
Single nucleotide variant
(synonymous variant +1 more)
Von Hippel-Lindau syndrome
+1 more
GLikely benign
LOC107303340, VHL
(I139L +1 more)
Single nucleotide variant
(missense variant +2 more)
Von Hippel-Lindau syndrome
+1 more
GUncertain significance
VHL
(E26Q)
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
VHL
Deletion
(inframe_deletion +1 more)
Chuvash polycythemia
+1 more
GUncertain significance
VHL
Single nucleotide variant
(splice donor variant)
Chuvash polycythemia
+1 more
GPathogenic
VHL
(C77Y)
Single nucleotide variant
(missense variant +1 more)
Chuvash polycythemia
+1 more
GUncertain significance
LOC107303340, VHL
Single nucleotide variant
(synonymous variant +2 more)
Chuvash polycythemia
+1 more
GLikely benign
LOC107303340, VHL
(K162N)
Single nucleotide variant
(missense variant +2 more)
Chuvash polycythemia
+1 more
GLikely benign
VHL
(Y23C)
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
VHL
Single nucleotide variant
(synonymous variant +1 more)
Chuvash polycythemia
+1 more
GLikely benign
VHL
(P103fs)
Duplication
(frameshift variant +1 more)
Von Hippel-Lindau syndrome
+1 more
GPathogenic
LOC107303340, VHL
Single nucleotide variant
(3 prime UTR variant +2 more)
Von Hippel-Lindau syndrome
+1 more
GUncertain significance
LOC107303340, VHL
(E193G)
Single nucleotide variant
(missense variant +2 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
(G175fs)
Duplication
(frameshift variant +2 more)
Von Hippel-Lindau syndrome
+1 more
GUncertain significance
VHL
(P45S)
Single nucleotide variant
(missense variant +1 more)
Von Hippel-Lindau syndrome
+1 more
GUncertain significance
LOC107303340, VHL
(D156fs)
Deletion
(frameshift variant +2 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
(synonymous variant +2 more)
Von Hippel-Lindau syndrome
+1 more
GUncertain significance
LOC107303340, VHL
Single nucleotide variant
(synonymous variant +2 more)
Hereditary cancer-predisposing syndrome
+2 more
GLikely benign
LOC107303340, VHL
(E130Q)
Single nucleotide variant
(missense variant +2 more)
Von Hippel-Lindau syndrome
+1 more
GLikely benign
LOC107303340, VHL
(E188D)
Single nucleotide variant
(missense variant +2 more)
Von Hippel-Lindau syndrome
+1 more
GUncertain significance
VHL
Single nucleotide variant
(synonymous variant +1 more)
Von Hippel-Lindau syndrome
+1 more
GLikely benign
VHL
(R107S)
Single nucleotide variant
(missense variant +1 more)
Von Hippel-Lindau syndrome
+1 more
GPathogenic
LOC107303340, VHL
(R172S)
Single nucleotide variant
(missense variant +2 more)
Chuvash polycythemia
+1 more
GUncertain significance
LOC107303340, VHL
Single nucleotide variant
(synonymous variant +2 more)
Chuvash polycythemia
+1 more
GLikely benign
VHL
(P2T)
Single nucleotide variant
(missense variant +1 more)
Chuvash polycythemia
+1 more
GUncertain significance
VHL
(Y98H)
Indel
(missense variant +1 more)
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
(synonymous variant +2 more)
Von Hippel-Lindau syndrome
+1 more
GLikely benign
LOC107303340, VHL
(P167L)
Single nucleotide variant
(missense variant +2 more)
Von Hippel-Lindau syndrome
+1 more
GUncertain significance
LOC107303340, VHL
(H150Y +1 more)
Single nucleotide variant
(missense variant +2 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
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