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Items: 1 to 100 of 4059

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IL17RA, LINC01640
+2088 more
Copy number gain
See cases
GPathogenic
LOC130067403, LOC130067404
+2088 more
Copy number gain
See cases
GPathogenic
ADORA2A, ADORA2A-AS1
+798 more
Copy number gain
See cases
GPathogenic
ADORA2A, ADORA2A-AS1
+823 more
Copy number gain
See cases
GPathogenic
LOC130067187, LOC130067188
+556 more
Copy number gain
See cases
GPathogenic
AP1B1, ASPHD2
+122 more
Copy number loss
See cases
GPathogenic
AP1B1, ASCC2
+260 more
Copy number loss
See cases
GPathogenic
AP1B1, ASCC2
+307 more
Copy number gain
See cases
GPathogenic
CCDC117, CHEK2
+32 more
Copy number gain
See cases
GUncertain significance
LOC126863115, CHEK2
+13 more
Copy number loss
See cases
GPathogenic
AP1B1, ASCC2
+89 more
Copy number loss
See cases
GPathogenic
CCDC117, CHEK2
+11 more
Copy number gain
See cases
GLikely benign
CHEK2, TTC28
Copy number gain
See cases
GUncertain significance
CHEK2, TTC28
Copy number gain
See cases
GUncertain significance
CHEK2, LOC130067165
Deletion
Familial cancer of breast
GPathogenic
CHEK2
Deletion
Familial cancer of breast
GLikely pathogenic
CHEK2
Deletion
Familial cancer of breast
GPathogenic
CHEK2
Duplication
Familial cancer of breast
GUncertain significance
CHEK2
Duplication
(3 prime UTR variant)
Hereditary breast ovarian cancer syndrome
GUncertain significance
CHEK2
Single nucleotide variant
(3 prime UTR variant)
CHEK2-related cancer predisposition
GUncertain significance
CHEK2
Single nucleotide variant
(3 prime UTR variant)
CHEK2-related cancer predisposition
GUncertain significance
CHEK2
Single nucleotide variant
(3 prime UTR variant)
CHEK2-related cancer predisposition
GUncertain significance
CHEK2
Single nucleotide variant
(3 prime UTR variant)
not specified
GLikely benign
CHEK2
Single nucleotide variant
(3 prime UTR variant)
Breast and/or ovarian cancer
+5 more
GConflicting classifications of pathogenicity
CHEK2
Single nucleotide variant
(3 prime UTR variant)
Hereditary cancer-predisposing syndrome
+1 more
GLikely benign
CHEK2
Single nucleotide variant
(3 prime UTR variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
CHEK2
Deletion
Familial cancer of breast
GPathogenic
CHEK2
Deletion
Familial cancer of breast
GPathogenic
CHEK2
Duplication
Familial cancer of breast
GUncertain significance
CHEK2
Deletion
Familial cancer of breast
GPathogenic
CHEK2
Deletion
Familial cancer of breast
GPathogenic
CHEK2
Deletion
Familial cancer of breast
GLikely pathogenic
CHEK2
Duplication
Familial cancer of breast
GUncertain significance
CHEK2
Duplication
Familial cancer of breast
GUncertain significance
CHEK2
Single nucleotide variant
(3 prime UTR variant)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
CHEK2
Duplication
Familial cancer of breast
GUncertain significance
CHEK2
Deletion
Familial cancer of breast
GPathogenic
CHEK2
Deletion
Familial cancer of breast
GPathogenic
CHEK2
Deletion
Familial cancer of breast
GPathogenic
CHEK2
Deletion
Familial cancer of breast
GLikely pathogenic
CHEK2
Single nucleotide variant
(3 prime UTR variant)
not specified
+1 more
GLikely benign
CHEK2
Single nucleotide variant
(3 prime UTR variant)
Hereditary cancer-predisposing syndrome
+1 more
GConflicting classifications of pathogenicity
CHEK2
Duplication
(3 prime UTR variant)
not provided
+2 more
GConflicting classifications of pathogenicity
CHEK2
Single nucleotide variant
(3 prime UTR variant)
Hereditary cancer-predisposing syndrome
GLikely benign
CHEK2
Single nucleotide variant
(3 prime UTR variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
CHEK2
Duplication
Familial cancer of breast
GUncertain significance
CHEK2
Single nucleotide variant
(stop lost)
Familial cancer of breast
GUncertain significance
CHEK2
Single nucleotide variant
(stop lost)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
CHEK2
Single nucleotide variant
(stop lost)
Familial cancer of breast
GUncertain significance
CHEK2
Single nucleotide variant
(synonymous variant)
Familial cancer of breast
GLikely benign
CHEK2
(L476* +4 more)
Single nucleotide variant
(nonsense)
Familial cancer of breast
GUncertain significance
CHEK2
(L586S +4 more)
Single nucleotide variant
(missense variant)
Familial cancer of breast
GUncertain significance
CHEK2
Duplication
(inframe_insertion)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
CHEK2
(L322V +4 more)
Single nucleotide variant
(missense variant)
Familial cancer of breast
GUncertain significance
CHEK2
Single nucleotide variant
(synonymous variant)
Familial cancer of breast
GLikely benign
CHEK2
(V321A +4 more)
Single nucleotide variant
(missense variant)
Familial cancer of breast
GUncertain significance
CHEK2
(V321M +4 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
CHEK2
Single nucleotide variant
(synonymous variant)
Familial cancer of breast
+2 more
GLikely benign
CHEK2
Single nucleotide variant
(synonymous variant)
Familial cancer of breast
+2 more
GLikely benign
CHEK2
(A512V +4 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
CHEK2
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
GLikely benign
CHEK2
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
+2 more
GLikely benign
CHEK2
(A540V +4 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
CHEK2
(A319S +4 more)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+2 more
GUncertain significance
CHEK2
(A540T +4 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
CHEK2
Single nucleotide variant
(synonymous variant)
Familial cancer of breast
GLikely benign
CHEK2
(C539F +4 more)
Single nucleotide variant
(missense variant)
Familial cancer of breast
GUncertain significance
CHEK2
(C539Y +4 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
CHEK2
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
GLikely benign
CHEK2
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
GLikely benign
CHEK2
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
+1 more
GLikely benign
CHEK2
(V471L +4 more)
Single nucleotide variant
(missense variant)
Familial cancer of breast
GUncertain significance
CHEK2
(V538M +4 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
CHEK2
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GLikely benign
CHEK2
(A470fs +4 more)
Deletion
(frameshift variant)
Familial cancer of breast
GUncertain significance
CHEK2
(A470D +4 more)
Single nucleotide variant
(missense variant)
Familial cancer of breast
GUncertain significance
CHEK2
(A537V +4 more)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+2 more
GUncertain significance
CHEK2
(A537T +4 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
CHEK2
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
GLikely benign
CHEK2
(P507L +4 more)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+1 more
GConflicting classifications of pathogenicity
CHEK2
(P536R +4 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
CHEK2
(P315fs +4 more)
Deletion
(frameshift variant)
Familial cancer of breast
GUncertain significance
CHEK2
(P507S +4 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
CHEK2
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
GLikely benign
CHEK2
(R535H +4 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
CHEK2
(P536fs +4 more)
Duplication
(frameshift variant)
Familial cancer of breast
GUncertain significance
CHEK2
(R535C +4 more)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+3 more
GUncertain significance
CHEK2
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
+1 more
GLikely benign
CHEK2
(K313fs +4 more)
Deletion
(frameshift variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
CHEK2
(K313Q +4 more)
Single nucleotide variant
(missense variant)
Familial cancer of breast
GUncertain significance
CHEK2
(K534E +4 more)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+1 more
GUncertain significance
CHEK2
(T312I +4 more)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+1 more
GUncertain significance
CHEK2
(T466fs +4 more)
Deletion
(frameshift variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
CHEK2
(T533R +4 more)
Single nucleotide variant
(missense variant)
Familial cancer of breast
GUncertain significance
CHEK2
(T533S +4 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
CHEK2
(T533A +4 more)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+4 more
GConflicting classifications of pathogenicity
CHEK2
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
GLikely benign
CHEK2
Single nucleotide variant
(synonymous variant)
Familial cancer of breast
GLikely benign
CHEK2
(T312fs +4 more)
Deletion
(frameshift variant)
Familial cancer of breast
+2 more
GUncertain significance
CHEK2
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GConflicting classifications of pathogenicity
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