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Links from MedGen

Items: 1 to 100 of 1579

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
POT1
(S186T +1 more)
Single nucleotide variant
(missense variant +1 more)
Tumor predisposition syndrome 3
GUncertain significance
POT1
Single nucleotide variant
(intron variant)
Tumor predisposition syndrome 3
GLikely benign
POT1
Single nucleotide variant
(synonymous variant +1 more)
Tumor predisposition syndrome 3
GLikely benign
POT1
Single nucleotide variant
(intron variant)
Tumor predisposition syndrome 3
GLikely benign
POT1
(G274E +1 more)
Single nucleotide variant
(missense variant +1 more)
Tumor predisposition syndrome 3
GUncertain significance
POT1
Duplication
(intron variant)
Tumor predisposition syndrome 3
GBenign
POT1
Single nucleotide variant
(intron variant)
Tumor predisposition syndrome 3
GLikely benign
POT1
Single nucleotide variant
(intron variant)
Tumor predisposition syndrome 3
GLikely benign
POT1
(N169H +1 more)
Single nucleotide variant
(missense variant +1 more)
Tumor predisposition syndrome 3
GUncertain significance
POT1
Single nucleotide variant
(synonymous variant +1 more)
Tumor predisposition syndrome 3
GLikely benign
POT1
(P406S +1 more)
Single nucleotide variant
(missense variant +1 more)
Tumor predisposition syndrome 3
GUncertain significance
POT1
(V46A)
Single nucleotide variant
(missense variant +2 more)
Tumor predisposition syndrome 3
GUncertain significance
POT1
(Q341P +1 more)
Single nucleotide variant
(missense variant +1 more)
Tumor predisposition syndrome 3
GUncertain significance
POT1
(V285fs +1 more)
Microsatellite
(frameshift variant +1 more)
Tumor predisposition syndrome 3
GPathogenic
POT1
(V2G +1 more)
Single nucleotide variant
(missense variant +1 more)
Tumor predisposition syndrome 3
GUncertain significance
POT1
(Q52*)
Single nucleotide variant
(nonsense +2 more)
Tumor predisposition syndrome 3
GPathogenic
POT1
(K91R)
Single nucleotide variant
(5 prime UTR variant +2 more)
Tumor predisposition syndrome 3
GUncertain significance
POT1
(Q341H +1 more)
Single nucleotide variant
(missense variant +1 more)
Tumor predisposition syndrome 3
GUncertain significance
POT1
(P190fs +1 more)
Microsatellite
(frameshift variant +1 more)
Tumor predisposition syndrome 3
GPathogenic
POT1
(V46I)
Single nucleotide variant
(missense variant +2 more)
Tumor predisposition syndrome 3
GUncertain significance
POT1
Single nucleotide variant
(5 prime UTR variant +2 more)
Tumor predisposition syndrome 3
GLikely benign
POT1
Deletion
(splice donor variant)
Tumor predisposition syndrome 3
GLikely pathogenic
POT1
Single nucleotide variant
(synonymous variant +1 more)
Tumor predisposition syndrome 3
GLikely benign
POT1
Single nucleotide variant
(intron variant)
Tumor predisposition syndrome 3
GLikely benign
POT1
(E204K +1 more)
Single nucleotide variant
(missense variant +1 more)
Tumor predisposition syndrome 3
GUncertain significance
POT1
(T34N +1 more)
Single nucleotide variant
(missense variant +1 more)
Tumor predisposition syndrome 3
GUncertain significance
POT1
(W63* +1 more)
Single nucleotide variant
(nonsense +1 more)
Tumor predisposition syndrome 3
GPathogenic
POT1
(K30R)
Single nucleotide variant
(5 prime UTR variant +2 more)
Tumor predisposition syndrome 3
GUncertain significance
POT1
(P148A +1 more)
Single nucleotide variant
(missense variant +1 more)
Tumor predisposition syndrome 3
GUncertain significance
POT1
(P113R)
Single nucleotide variant
(5 prime UTR variant +2 more)
Tumor predisposition syndrome 3
GUncertain significance
POT1
(S2F)
Single nucleotide variant
(5 prime UTR variant +2 more)
Tumor predisposition syndrome 3
GUncertain significance
POT1
(Y479D +1 more)
Single nucleotide variant
(missense variant +1 more)
Tumor predisposition syndrome 3
GUncertain significance
POT1
(D153G +1 more)
Single nucleotide variant
(missense variant +1 more)
Tumor predisposition syndrome 3
GUncertain significance
POT1
(K433N +1 more)
Single nucleotide variant
(missense variant +1 more)
Tumor predisposition syndrome 3
GUncertain significance
POT1
Single nucleotide variant
(intron variant)
Tumor predisposition syndrome 3
GLikely benign
POT1
(Q376P +1 more)
Single nucleotide variant
(missense variant +1 more)
Tumor predisposition syndrome 3
GUncertain significance
POT1
Single nucleotide variant
(intron variant)
Tumor predisposition syndrome 3
GLikely benign
POT1
(C176* +1 more)
Single nucleotide variant
(nonsense +1 more)
Tumor predisposition syndrome 3
GPathogenic
POT1
(K281N +1 more)
Single nucleotide variant
(missense variant +1 more)
Tumor predisposition syndrome 3
GUncertain significance
POT1
(I512K +1 more)
Single nucleotide variant
(missense variant +1 more)
Tumor predisposition syndrome 3
GUncertain significance
POT1
Single nucleotide variant
(5 prime UTR variant +2 more)
Tumor predisposition syndrome 3
GLikely benign
POT1
(P357S +1 more)
Single nucleotide variant
(missense variant +1 more)
Tumor predisposition syndrome 3
GUncertain significance
POT1
(K608T +1 more)
Single nucleotide variant
(missense variant +1 more)
Tumor predisposition syndrome 3
GUncertain significance
POT1
(R188G +1 more)
Single nucleotide variant
(missense variant +1 more)
Tumor predisposition syndrome 3
GUncertain significance
POT1
Deletion
(intron variant)
Tumor predisposition syndrome 3
GLikely benign
POT1
Single nucleotide variant
(synonymous variant +1 more)
Tumor predisposition syndrome 3
GLikely benign
POT1
Single nucleotide variant
(intron variant)
Tumor predisposition syndrome 3
GLikely benign
POT1
Single nucleotide variant
(intron variant)
Tumor predisposition syndrome 3
GLikely benign
POT1
(D173V +1 more)
Single nucleotide variant
(missense variant +1 more)
Tumor predisposition syndrome 3
GUncertain significance
POT1
(A219D +1 more)
Single nucleotide variant
(missense variant +1 more)
Tumor predisposition syndrome 3
GUncertain significance
POT1
Single nucleotide variant
(synonymous variant +1 more)
Tumor predisposition syndrome 3
GLikely benign
POT1
Single nucleotide variant
(synonymous variant +1 more)
Tumor predisposition syndrome 3
GLikely benign
POT1
(E310D +1 more)
Single nucleotide variant
(missense variant +1 more)
Tumor predisposition syndrome 3
GUncertain significance
POT1
(G326V +1 more)
Single nucleotide variant
(missense variant +1 more)
Tumor predisposition syndrome 3
GUncertain significance
POT1
(S517A +1 more)
Single nucleotide variant
(missense variant +1 more)
Tumor predisposition syndrome 3
GUncertain significance
POT1
(Q256* +1 more)
Single nucleotide variant
(nonsense +1 more)
Tumor predisposition syndrome 3
GPathogenic
POT1
Single nucleotide variant
(intron variant)
Tumor predisposition syndrome 3
GUncertain significance
POT1
(K253R +1 more)
Single nucleotide variant
(missense variant +1 more)
Tumor predisposition syndrome 3
GUncertain significance
POT1
(T414fs +1 more)
Duplication
(frameshift variant +1 more)
Tumor predisposition syndrome 3
GPathogenic
POT1
Single nucleotide variant
(intron variant)
Tumor predisposition syndrome 3
GLikely benign
POT1
(G100A)
Single nucleotide variant
(non-coding transcript variant +2 more)
Tumor predisposition syndrome 3
GUncertain significance
POT1
Single nucleotide variant
(splice donor variant)
Tumor predisposition syndrome 3
GLikely pathogenic
POT1
Duplication
(intron variant)
Tumor predisposition syndrome 3
GLikely benign
POT1
(K30T)
Single nucleotide variant
(5 prime UTR variant +2 more)
Tumor predisposition syndrome 3
GUncertain significance
POT1
(Y73H)
Single nucleotide variant
(missense variant +2 more)
Tumor predisposition syndrome 3
GUncertain significance
POT1
(Q376* +1 more)
Single nucleotide variant
(nonsense +1 more)
Tumor predisposition syndrome 3
GPathogenic
POT1
Single nucleotide variant
(synonymous variant +1 more)
Tumor predisposition syndrome 3
GLikely benign
POT1
(K433R +1 more)
Single nucleotide variant
(missense variant +1 more)
Tumor predisposition syndrome 3
GUncertain significance
POT1
(S451T +1 more)
Single nucleotide variant
(missense variant +1 more)
Tumor predisposition syndrome 3
GUncertain significance
POT1
(I381L +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Tumor predisposition syndrome 3
GUncertain significance
POT1
Single nucleotide variant
(intron variant)
Tumor predisposition syndrome 3
GLikely benign
POT1
(W184C +1 more)
Single nucleotide variant
(missense variant +1 more)
Tumor predisposition syndrome 3
GUncertain significance
POT1
(R346S +1 more)
Single nucleotide variant
(missense variant +1 more)
Tumor predisposition syndrome 3
GUncertain significance
POT1
Single nucleotide variant
(intron variant)
Tumor predisposition syndrome 3
GLikely benign
POT1
Single nucleotide variant
(synonymous variant +1 more)
Tumor predisposition syndrome 3
GUncertain significance
POT1
(S461N +1 more)
Single nucleotide variant
(missense variant +1 more)
Tumor predisposition syndrome 3
GUncertain significance
POT1
(S397Y +1 more)
Single nucleotide variant
(missense variant +1 more)
Tumor predisposition syndrome 3
GUncertain significance
POT1
Single nucleotide variant
(synonymous variant +1 more)
Tumor predisposition syndrome 3
GLikely benign
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