U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from Orgtrack

Items: 17

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MECOM
(C433S +8 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
GPathogenic
BRCA2
(N1405fs)
Deletion
(frameshift variant +2 more)
Hereditary cancer-predisposing syndrome
GPathogenic
BARD1
(N299fs +1 more)
Deletion
(frameshift variant +2 more)
Hereditary cancer-predisposing syndrome
GPathogenic
WRAP53
(V302F)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
GPathogenic
POT1
(Q199* +1 more)
Single nucleotide variant
(nonsense +1 more)
Hereditary cancer-predisposing syndrome
GPathogenic
BRCA2
(H2090fs)
Deletion
(frameshift variant)
Familial cancer of breast
+1 more
GPathogenic
RAD21
(P298A)
Single nucleotide variant
(missense variant)
Cornelia de Lange syndrome 4
+1 more
GUncertain significance
TP53
(Q167* +3 more)
Single nucleotide variant
(nonsense)
Adrenocortical carcinoma, hereditary
+4 more
GPathogenic/Likely pathogenic
NF1
Single nucleotide variant
(splice acceptor variant)
Juvenile myelomonocytic leukemia
+4 more
GPathogenic
ATM
(T1029fs)
Duplication
(frameshift variant)
Familial cancer of breast
+4 more
GPathogenic
PALB2
(A1079S)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
BARD1
Deletion
(frameshift variant +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GPathogenic/Likely pathogenic
CHEK2
(T146fs +4 more)
Deletion
(frameshift variant)
NICE approved PARP inhibitor treatment
+21 more
GPathogenic
ERCC6L2
(R644*)
Single nucleotide variant
(nonsense +1 more)
Pancytopenia-developmental delay syndrome
+2 more
GPathogenic
BRCA2
(M1I)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
TSC1
(Q655* +3 more)
Single nucleotide variant
(nonsense)
Hereditary cancer-predisposing syndrome
+2 more
GPathogenic
WRAP53
(R398W)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GConflicting classifications of pathogenicity
Format
Items per page
Sort by
Choose Destination