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Items: 1 to 100 of 1976

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CCDC146, CCDC201
+4735 more
Copy number loss
See cases
GPathogenic
LOC129998995, LOC129998996
+2212 more
Copy number gain
See cases
GPathogenic
AASS, ANKRD7
+248 more
Copy number loss
See cases
GPathogenic
AASS, ANKRD7
+253 more
Copy number loss
See cases
GPathogenic
LOC129999548, LOC129999549
+1547 more
Copy number gain
See cases
GPathogenic
AASS, AHCYL2
+492 more
Copy number loss
See cases
GPathogenic
CADPS2, CALD1
+1380 more
Copy number gain
See cases
GPathogenic
AASS, ARF5
+163 more
Copy number loss
See cases
GPathogenic
LOC129999230, LOC129999231
+60 more
Copy number loss
See cases
GLikely pathogenic
LOC129999315, LOC129999316
+342 more
Copy number loss
See cases
GPathogenic
POT1
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
POT1
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GLikely benign
POT1
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GLikely benign
POT1
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GLikely benign
POT1
Deletion
Tumor predisposition syndrome 3
GPathogenic
POT1
Duplication
Tumor predisposition syndrome 3
GUncertain significance
POT1
(I634M +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
(I634T +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
(V502fs +1 more)
Deletion
(frameshift variant +1 more)
Hereditary cancer-predisposing syndrome
GUncertain significance
POT1
(V502L +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
GLikely benign
POT1
Single nucleotide variant
(synonymous variant +1 more)
Hereditary cancer-predisposing syndrome
GLikely benign
POT1
(D501E +1 more)
Single nucleotide variant
(missense variant +1 more)
Tumor predisposition syndrome 3
GUncertain significance
POT1
(D632G +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
GUncertain significance
POT1
(D501V +1 more)
Single nucleotide variant
(missense variant +1 more)
Tumor predisposition syndrome 3
GUncertain significance
POT1
(E500K +1 more)
Single nucleotide variant
(missense variant +1 more)
Tumor predisposition syndrome 3
+1 more
GUncertain significance
POT1
Single nucleotide variant
(synonymous variant +1 more)
Hereditary cancer-predisposing syndrome
GLikely benign
POT1
(A630G +1 more)
Single nucleotide variant
(missense variant +1 more)
Tumor predisposition syndrome 3
GUncertain significance
POT1
(V498L +1 more)
Single nucleotide variant
(missense variant +1 more)
Tumor predisposition syndrome 3
GUncertain significance
POT1
(V498fs +1 more)
Deletion
(frameshift variant +1 more)
Hereditary cancer-predisposing syndrome
GUncertain significance
POT1
Single nucleotide variant
(synonymous variant +1 more)
Tumor predisposition syndrome 3
+2 more
GBenign
POT1
(T628A +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)
Hereditary cancer-predisposing syndrome
+1 more
GLikely benign
POT1
(T496I +1 more)
Single nucleotide variant
(missense variant +1 more)
Tumor predisposition syndrome 3
GUncertain significance
POT1
(T627N +1 more)
Single nucleotide variant
(missense variant +1 more)
Tumor predisposition syndrome 3
GUncertain significance
POT1
(D626E +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Tumor predisposition syndrome 3
GUncertain significance
POT1
(D495V +1 more)
Single nucleotide variant
(missense variant +1 more)
Tumor predisposition syndrome 3
+1 more
GConflicting classifications of pathogenicity
POT1
(D495G +1 more)
Single nucleotide variant
(missense variant +1 more)
Tumor predisposition syndrome 3
GUncertain significance
POT1
(F625fs +1 more)
Indel
(frameshift variant +1 more)
Hereditary cancer-predisposing syndrome
GUncertain significance
POT1
(F625L +1 more)
Single nucleotide variant
(missense variant +1 more)
Tumor predisposition syndrome 3
+1 more
GUncertain significance
POT1
Single nucleotide variant
(synonymous variant +1 more)
Hereditary cancer-predisposing syndrome
GLikely benign
POT1
(I493M +1 more)
Single nucleotide variant
(missense variant +1 more)
Tumor predisposition syndrome 3
+1 more
GUncertain significance
POT1
(I624T +1 more)
Single nucleotide variant
(missense variant +1 more)
Tumor predisposition syndrome 3
GUncertain significance
POT1
(I624V +1 more)
Single nucleotide variant
(missense variant +1 more)
Tumor predisposition syndrome 3
+2 more
GUncertain significance
POT1
Single nucleotide variant
(synonymous variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GLikely benign
POT1
(Q623H +1 more)
Single nucleotide variant
(missense variant +1 more)
Tumor predisposition syndrome 3
GPathogenic
POT1
(Y622S +1 more)
Single nucleotide variant
(missense variant +1 more)
Tumor predisposition syndrome 3
GUncertain significance
POT1
(Y622C +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
POT1
(Y622H +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
POT1
Single nucleotide variant
(synonymous variant +1 more)
Tumor predisposition syndrome 3
+1 more
GLikely benign
POT1
(C490F +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
(I489M +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
GUncertain significance
POT1
(I620del +1 more)
Deletion
(inframe_deletion +1 more)
Tumor predisposition syndrome 3
+1 more
GUncertain significance
POT1
(D486fs +1 more)
Deletion
(frameshift variant +1 more)
Tumor predisposition syndrome 3
+2 more
GConflicting classifications of pathogenicity
POT1
Single nucleotide variant
(synonymous variant +1 more)
Tumor predisposition syndrome 3
+1 more
GLikely benign
POT1
(D486E +1 more)
Single nucleotide variant
(missense variant +1 more)
Tumor predisposition syndrome 3
+1 more
GConflicting classifications of pathogenicity
POT1
(D486V +1 more)
Single nucleotide variant
(missense variant +1 more)
Tumor predisposition syndrome 3
GUncertain significance
POT1
(D486A +1 more)
Single nucleotide variant
(missense variant +1 more)
Tumor predisposition syndrome 3
+1 more
GUncertain significance
POT1
(T616R +1 more)
Single nucleotide variant
(missense variant +1 more)
Tumor predisposition syndrome 3
GUncertain significance
POT1
(G484A +1 more)
Single nucleotide variant
(missense variant +1 more)
Tumor predisposition syndrome 3
GUncertain significance
POT1
Single nucleotide variant
(synonymous variant +1 more)
Hereditary cancer-predisposing syndrome
GLikely benign
POT1
(N614S +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
POT1
Single nucleotide variant
(non-coding transcript variant +1 more)
Tumor predisposition syndrome 3
GLikely benign
POT1
Single nucleotide variant
(synonymous variant +1 more)
Tumor predisposition syndrome 3
GLikely benign
POT1
(V481L +1 more)
Single nucleotide variant
(missense variant +1 more)
Tumor predisposition syndrome 3
+1 more
GUncertain significance
POT1
(V612I +1 more)
Single nucleotide variant
(missense variant +1 more)
Tumor predisposition syndrome 3
+1 more
GUncertain significance
POT1
(N611S +1 more)
Single nucleotide variant
(missense variant +1 more)
Tumor predisposition syndrome 3
+2 more
GUncertain significance
POT1
(N480D +1 more)
Single nucleotide variant
(missense variant +1 more)
Tumor predisposition syndrome 3
+1 more
GUncertain significance
POT1
Single nucleotide variant
(non-coding transcript variant +1 more)
Tumor predisposition syndrome 3
+1 more
GLikely benign
POT1
(Y610C +1 more)
Single nucleotide variant
(missense variant +1 more)
Tumor predisposition syndrome 3
+1 more
GUncertain significance
POT1
(Y479D +1 more)
Single nucleotide variant
(missense variant +1 more)
Tumor predisposition syndrome 3
GUncertain significance
POT1
(Y610H +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
+1 more
GLikely benign
POT1
(K608T +1 more)
Single nucleotide variant
(missense variant +1 more)
Tumor predisposition syndrome 3
GUncertain significance
POT1
(K608R +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
GUncertain significance
POT1
(I476T +1 more)
Single nucleotide variant
(missense variant +1 more)
Tumor predisposition syndrome 3
GUncertain significance
POT1
(I607V +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Tumor predisposition syndrome 3
GUncertain significance
POT1
(F606S +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
+1 more
GLikely benign
POT1
(C605S +1 more)
Single nucleotide variant
(missense variant +1 more)
Tumor predisposition syndrome 3
+1 more
GLikely benign
POT1
(E604K +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
POT1
Single nucleotide variant
(synonymous variant +1 more)
Tumor predisposition syndrome 3
+1 more
GLikely benign
POT1
Single nucleotide variant
(synonymous variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GLikely benign
POT1
(W471L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
POT1
(W471* +1 more)
Single nucleotide variant
(nonsense +1 more)
Tumor predisposition syndrome 3
GUncertain significance
POT1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GLikely benign
POT1
(P601L +1 more)
Single nucleotide variant
(missense variant +1 more)
Tumor predisposition syndrome 3
+1 more
GUncertain significance
POT1
(P470T +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
POT1
(P470S +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
GUncertain significance
POT1
Single nucleotide variant
(synonymous variant +1 more)
Tumor predisposition syndrome 3
+1 more
GLikely benign
POT1
(Y600C +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
POT1
Single nucleotide variant
(synonymous variant +1 more)
Tumor predisposition syndrome 3
+1 more
GLikely benign
POT1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GLikely benign
POT1
(A599V +1 more)
Single nucleotide variant
(missense variant +1 more)
Tumor predisposition syndrome 3
GUncertain significance
POT1
(A468E +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Hereditary cancer-predisposing syndrome
GUncertain significance
POT1
(A468S +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
POT1
(D598fs +1 more)
Deletion
(frameshift variant +1 more)
Tumor predisposition syndrome 3
GUncertain significance
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