U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from Orgtrack

Items: 20

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NF1
Deletion
(intron variant)
Hereditary cancer-predisposing syndrome
+5 more
GConflicting classifications of pathogenicity
TP53
Deletion
(splice acceptor variant +1 more)
Hereditary cancer-predisposing syndrome
GLikely pathogenic
DICER1
(G1136fs)
Duplication
(frameshift variant)
DICER1-related tumor predisposition
+1 more
GPathogenic/Likely pathogenic
FANCA, LOC130059837
(R880*)
Single nucleotide variant
(nonsense)
Hereditary cancer-predisposing syndrome
+1 more
GConflicting classifications of pathogenicity
TP53
(H140Q +3 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GPathogenic/Likely pathogenic
ATM
Single nucleotide variant
(splice donor variant)
Hereditary cancer-predisposing syndrome
+3 more
GPathogenic/Likely pathogenic
BRIP1
(K998fs)
Deletion
(frameshift variant)
Neoplasm of ovary
+5 more
GConflicting classifications of pathogenicity
CHEK2
(L301fs +3 more)
Deletion
(frameshift variant)
Colorectal cancer
+3 more
GConflicting classifications of pathogenicity
MSH6
(G803fs +2 more)
Duplication
(frameshift variant)
Hereditary nonpolyposis colorectal neoplasms
+4 more
GPathogenic
CHEK2
Single nucleotide variant
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
CHEK2
Single nucleotide variant
(splice donor variant)
Melanoma
+11 more
GPathogenic/Likely pathogenic
CHEK2
(D438Y +4 more)
Single nucleotide variant
(missense variant)
CHEK2-Related Cancer Susceptibility
+11 more
GConflicting classifications of pathogenicity
HOXB13
(G84E)
Single nucleotide variant
(missense variant)
HOXB13-related disorders
+7 more
GConflicting classifications of pathogenicity; association
MSH6
(V507del +1 more)
Deletion
(inframe_deletion)
Hereditary cancer-predisposing syndrome
+1 more
GConflicting classifications of pathogenicity
TP53
(R157* +3 more)
Single nucleotide variant
(nonsense)
Hereditary cancer-predisposing syndrome
+4 more
GPathogenic
PTPN11
(N308D +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome
GPathogenic
TP53
(G245S +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome
GPathogenic
NBN
(I171V +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer
+8 more
GConflicting classifications of pathogenicity
NBN
(K137fs +1 more)
Deletion
(frameshift variant)
NBN-related condition
+7 more
GPathogenic
CHEK2
(I157T +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
+14 more
GConflicting classifications of pathogenicity; risk factor
Format
Items per page
Sort by
Choose Destination