U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 1 to 100 of 2616

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
STK11
Translocation
Adrenal cortex carcinoma
GUncertain significance
LOC116276498, LOC121627842
+687 more
Copy number gain
See cases
GPathogenic
ABCA7, ABHD17A
+903 more
Copy number gain
See cases
GPathogenic
LOC130062818, LOC130062819
+332 more
Copy number gain
See cases
GPathogenic
ABCA7, ABHD17A
+321 more
Copy number gain
See cases
GPathogenic
ABCA7, ABHD17A
+429 more
Copy number gain
See cases
GPathogenic
ABCA7, ABHD17A
+301 more
Copy number gain
See cases
GPathogenic
ABCA7, ABHD17A
+453 more
Copy number gain
See cases
GLikely pathogenic
ABCA7, ARHGAP45
+168 more
Copy number gain
See cases
GPathogenic
ABCA7, ARHGAP45
+136 more
Copy number loss
See cases
GPathogenic
LOC130062906, LOC130062907
+222 more
Copy number loss
See cases
GPathogenic
LOC108254692, LOC110006317
+17 more
Copy number gain
See cases
GUncertain significance
LOC108254692, LOC112543439
+14 more
Copy number gain
See cases
GUncertain significance
CBARP, LOC108254692
+21 more
Copy number loss
See cases
GPathogenic
STK11
Single nucleotide variant
not provided
GLikely benign
LOC130062893, STK11
Single nucleotide variant
not provided
GLikely benign
LOC112543439, STK11
Single nucleotide variant
not provided
GLikely benign
LOC112543439, STK11
Single nucleotide variant
not provided
GBenign
LOC130062894, STK11
Duplication
(splice donor variant +1 more)
not provided
GUncertain significance
LOC130062894, LOC130062895
+1 more
Deletion
(splice donor variant +1 more)
Peutz-Jeghers syndrome
GPathogenic
LOC130062895, LOC130062896
+9 more
Deletion
Peutz-Jeghers syndrome
GPathogenic
STK11
Single nucleotide variant
(5 prime UTR variant)
Peutz-Jeghers syndrome
GUncertain significance
STK11
Single nucleotide variant
(5 prime UTR variant)
Peutz-Jeghers syndrome
GUncertain significance
STK11
Duplication
(splice donor variant +1 more)
Hereditary cancer-predisposing syndrome
GLikely benign
LOC130062895, STK11
Single nucleotide variant
(5 prime UTR variant)
Peutz-Jeghers syndrome
GUncertain significance
LOC130062895, STK11
Single nucleotide variant
(5 prime UTR variant)
Peutz-Jeghers syndrome
+1 more
GBenign
STK11
Single nucleotide variant
(5 prime UTR variant)
Peutz-Jeghers syndrome
GUncertain significance
STK11
Single nucleotide variant
(5 prime UTR variant)
Peutz-Jeghers syndrome
GUncertain significance
STK11
Single nucleotide variant
(5 prime UTR variant)
Peutz-Jeghers syndrome
GUncertain significance
STK11
Single nucleotide variant
(5 prime UTR variant)
Peutz-Jeghers syndrome
GUncertain significance
STK11
Single nucleotide variant
(5 prime UTR variant)
Peutz-Jeghers syndrome
GUncertain significance
STK11
Single nucleotide variant
(5 prime UTR variant)
Peutz-Jeghers syndrome
GUncertain significance
STK11
Single nucleotide variant
(5 prime UTR variant)
Peutz-Jeghers syndrome
GUncertain significance
STK11
Single nucleotide variant
(5 prime UTR variant)
Peutz-Jeghers syndrome
GUncertain significance
STK11
Deletion
(5 prime UTR variant)
Peutz-Jeghers syndrome
GUncertain significance
STK11
Single nucleotide variant
(5 prime UTR variant)
Peutz-Jeghers syndrome
GUncertain significance
STK11
Single nucleotide variant
(5 prime UTR variant)
Peutz-Jeghers syndrome
GUncertain significance
STK11
Single nucleotide variant
(5 prime UTR variant)
Peutz-Jeghers syndrome
GBenign
STK11
Single nucleotide variant
(5 prime UTR variant)
Peutz-Jeghers syndrome
GBenign
STK11
Single nucleotide variant
(5 prime UTR variant)
Peutz-Jeghers syndrome
GBenign
STK11
Single nucleotide variant
(5 prime UTR variant)
Peutz-Jeghers syndrome
GLikely benign
STK11
Single nucleotide variant
(5 prime UTR variant)
Peutz-Jeghers syndrome
GUncertain significance
STK11
Single nucleotide variant
(5 prime UTR variant)
Peutz-Jeghers syndrome
GUncertain significance
STK11
Single nucleotide variant
(5 prime UTR variant)
Peutz-Jeghers syndrome
GUncertain significance
STK11
Single nucleotide variant
(5 prime UTR variant)
Peutz-Jeghers syndrome
GConflicting classifications of pathogenicity
STK11
Single nucleotide variant
(5 prime UTR variant)
Peutz-Jeghers syndrome
GUncertain significance
STK11
Single nucleotide variant
(5 prime UTR variant)
Peutz-Jeghers syndrome
+1 more
GBenign/Likely benign
STK11
Single nucleotide variant
(5 prime UTR variant)
Peutz-Jeghers syndrome
GUncertain significance
STK11
Single nucleotide variant
(5 prime UTR variant)
Peutz-Jeghers syndrome
GUncertain significance
STK11
Single nucleotide variant
(5 prime UTR variant)
Peutz-Jeghers syndrome
GUncertain significance
STK11
Single nucleotide variant
(5 prime UTR variant)
not provided
+1 more
GBenign/Likely benign
STK11
Single nucleotide variant
(5 prime UTR variant)
Peutz-Jeghers syndrome
GUncertain significance
STK11
Single nucleotide variant
(5 prime UTR variant)
Peutz-Jeghers syndrome
GLikely benign
STK11
Single nucleotide variant
(5 prime UTR variant)
Peutz-Jeghers syndrome
GBenign
STK11
Single nucleotide variant
(5 prime UTR variant)
Peutz-Jeghers syndrome
GUncertain significance
STK11
Single nucleotide variant
(5 prime UTR variant)
Peutz-Jeghers syndrome
GUncertain significance
STK11
Single nucleotide variant
(5 prime UTR variant)
Peutz-Jeghers syndrome
GUncertain significance
STK11
Single nucleotide variant
(5 prime UTR variant)
Peutz-Jeghers syndrome
GLikely benign
STK11
Single nucleotide variant
(5 prime UTR variant)
Peutz-Jeghers syndrome
GUncertain significance
STK11
Single nucleotide variant
(5 prime UTR variant)
Peutz-Jeghers syndrome
GBenign/Likely benign
STK11
Single nucleotide variant
(5 prime UTR variant)
Peutz-Jeghers syndrome
GUncertain significance
STK11
Single nucleotide variant
(5 prime UTR variant)
Peutz-Jeghers syndrome
GUncertain significance
STK11
Single nucleotide variant
(5 prime UTR variant)
not provided
+1 more
GBenign/Likely benign
STK11
Duplication
(5 prime UTR variant)
Peutz-Jeghers syndrome
GConflicting classifications of pathogenicity
STK11
Single nucleotide variant
(5 prime UTR variant)
Peutz-Jeghers syndrome
GUncertain significance
STK11
Single nucleotide variant
(5 prime UTR variant)
Peutz-Jeghers syndrome
GLikely benign
STK11
Single nucleotide variant
(5 prime UTR variant)
Peutz-Jeghers syndrome
GLikely benign
STK11
Single nucleotide variant
(5 prime UTR variant)
Peutz-Jeghers syndrome
GUncertain significance
STK11
Single nucleotide variant
(5 prime UTR variant)
Peutz-Jeghers syndrome
GUncertain significance
STK11
Deletion
(5 prime UTR variant)
not specified
GLikely benign
STK11
Single nucleotide variant
(5 prime UTR variant)
not specified
GBenign
STK11
Single nucleotide variant
(5 prime UTR variant)
not provided
GBenign
STK11
Single nucleotide variant
(5 prime UTR variant)
not specified
GLikely benign
STK11
Single nucleotide variant
(5 prime UTR variant)
not specified
GLikely benign
STK11
Single nucleotide variant
(5 prime UTR variant)
not specified
GLikely benign
STK11
Single nucleotide variant
(5 prime UTR variant)
Hereditary cancer-predisposing syndrome
GLikely benign
STK11
Deletion
(5 prime UTR variant)
Peutz-Jeghers syndrome
+1 more
GConflicting classifications of pathogenicity
STK11
Single nucleotide variant
(5 prime UTR variant)
Hereditary cancer-predisposing syndrome
GLikely benign
STK11
Single nucleotide variant
(5 prime UTR variant)
Hereditary cancer-predisposing syndrome
+2 more
GLikely benign
LOC121627843, LOC125371447
+7 more
Duplication
Peutz-Jeghers syndrome
GUncertain significance
LOC125371447, LOC130062896
+6 more
Duplication
Peutz-Jeghers syndrome
GUncertain significance
LOC110006317, LOC121627843
+5 more
Deletion
Peutz-Jeghers syndrome
GPathogenic
LOC130062898, LOC130062899
+7 more
Duplication
Peutz-Jeghers syndrome
GUncertain significance
STK11
Duplication
Peutz-Jeghers syndrome
GUncertain significance
LOC130062899, LOC110006317
+7 more
Deletion
Peutz-Jeghers syndrome
GPathogenic
STK11
Single nucleotide variant
(5 prime UTR variant)
not specified
GLikely benign
STK11
Single nucleotide variant
(5 prime UTR variant)
not specified
+2 more
GConflicting classifications of pathogenicity
STK11
Deletion
(5 prime UTR variant)
not specified
+2 more
GConflicting classifications of pathogenicity
STK11
Single nucleotide variant
(5 prime UTR variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
LOC130062896, LOC130062897
+6 more
Deletion
Peutz-Jeghers syndrome
GPathogenic
STK11
Duplication
Peutz-Jeghers syndrome
GUncertain significance
LOC130062898, STK11
+6 more
Duplication
Peutz-Jeghers syndrome
GUncertain significance
LOC130062898, LOC130062899
+7 more
Deletion
Peutz-Jeghers syndrome
GPathogenic
STK11
Single nucleotide variant
(5 prime UTR variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
STK11
Single nucleotide variant
(5 prime UTR variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
LOC125371447, LOC130062896
+1 more
Deletion
(splice donor variant +1 more)
Generalized juvenile polyposis/juvenile polyposis coli
GPathogenic
STK11
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
LOC110006318, LOC121627843
+6 more
Deletion
Hereditary cancer-predisposing syndrome
GPathogenic
STK11
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+4 more
GConflicting classifications of pathogenicity
STK11
(M1V)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
Format
Items per page
Sort by
Choose Destination