U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 54

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC124210612, LOC124210613
+3786 more
Copy number gain
See cases
GPathogenic
CDKN2B, CDKN2B-AS1
+1214 more
Copy number gain
See cases
GPathogenic
LOC121331326, LOC121331327
+3785 more
Copy number gain
See cases
GPathogenic
LOC126860737, LOC126860738
+3786 more
Copy number gain
See cases
GPathogenic
ABCA1, ABCA2
+3786 more
Copy number gain
See cases
GPathogenic
LOC130001680, LOC130001681
+1062 more
Copy number gain
See cases
GPathogenic
LOC124210611, LOC124210612
+1120 more
Copy number gain
See cases
GPathogenic
LOC110121197, LOC110121234
+3786 more
Copy number gain
See cases
GPathogenic
LOC121331342, LOC121331343
+3786 more
Copy number gain
See cases
GPathogenic
LOC130001854, LOC130001855
+1367 more
Copy number gain
See cases
GPathogenic
LOC113839542, LOC113839543
+3786 more
Copy number gain
See cases
GPathogenic
ABCA1, ABCA2
+3786 more
Copy number gain
See cases
GPathogenic
LOC130002189, LOC130002190
+3786 more
Copy number gain
See cases
GPathogenic
LOC130001865, LOC130001866
+70 more
Copy number loss
See cases
GLikely pathogenic
ABCA1, ABHD17B
+1072 more
Copy number gain
See cases
GPathogenic
APBA1, BANCR
+40 more
Copy number loss
See cases
GPathogenic
ABHD17B, ALDH1A1
+148 more
Copy number loss
See cases
GPathogenic
LOC130001938, LOC130001939
+263 more
Copy number loss
See cases
GPathogenic
ABHD17B, APBA1
+79 more
Copy number gain
See cases
GLikely pathogenic
BANCR, ENTREP1
+23 more
Copy number gain
See cases
GUncertain significance
APBA1, BANCR
+13 more
Copy number gain
See cases
GLikely benign
BANCR, ENTREP1
+3 more
Deletion
not provided
GPathogenic
DMAC1, DMRT1
+769 more
Copy number gain
not specified
GPathogenic
ABHD17B, ALDH1A1
+24 more
Copy number gain
not provided
GUncertain significance
ADAMTSL1, CEP78
+596 more
Copy number gain
See cases
GPathogenic
ATOSB, ATP6V1G1
+417 more
Copy number loss
Distal tetrasomy 15q
GUncertain significance
ABCA1, ABHD17B
+261 more
Copy number gain
not specified
GLikely pathogenic
ANKRD18A, ANKRD18B
+768 more
Copy number gain
not specified
GPathogenic
SPATA31A5, SPATA31A6
+257 more
Copy number gain
not specified
GPathogenic
BANCR, ENTREP1
+1 more
Duplication
not provided
GUncertain significance
APBA1, BANCR
+2 more
Copy number gain
not provided
GUncertain significance
ANKS6, ANP32B
+326 more
Inversion
Abnormal chromosome morphology
+1 more
GLikely pathogenic
BANCR, ENTREP1
+4 more
Copy number gain
not provided
GUncertain significance
AMBP, ANAPC2
+552 more
Copy number gain
not provided
GPathogenic
BANCR, ENTREP1
+4 more
Copy number gain
not provided
GUncertain significance
BANCR, ENTREP1
+4 more
Copy number gain
not provided
GUncertain significance
ABHD17B, ALDH1A1
+42 more
Copy number loss
not provided
GPathogenic
APBA1, BANCR
+1 more
Copy number gain
not provided
GUncertain significance
MSMP, OR13D1
+769 more
Copy number gain
not provided
GPathogenic
APBA1, APTX
+185 more
Complex
Glioma
GLikely pathogenic
ACER2, ACO1
+225 more
Copy number gain
not provided
GPathogenic
ABHD17B, ALDH1A1
+54 more
Copy number loss
not provided
GPathogenic
ANGPTL2, ANKS6
+555 more
Copy number gain
Seizure
+2 more
GLikely pathogenic
ODF2, OGN
+769 more
Copy number gain
See cases
GPathogenic
BANCR, ENTREP1
+4 more
Copy number gain
See cases
GUncertain significance
ABHD17B, ALDH1A1
+24 more
Copy number loss
See cases
GLikely pathogenic
ABHD17B, ALDH1A1
+50 more
Copy number gain
See cases
GPathogenic
ABHD17B, ACER2
+274 more
Copy number gain
See cases
GPathogenic
BANCR, ENTREP1
+5 more
Copy number gain
See cases
GUncertain significance
ABHD17B, AGTPBP1
+74 more
Copy number gain
See cases
GPathogenic
ABCA1, ABCA2
+771 more
Copy number gain
See cases
GPathogenic
APBA1, BANCR
+1 more
Copy number gain
See cases
GLikely benign
TJP2, PABIR1
+5 more
Copy number gain
See cases
GUncertain significance
ABCA1, ABCA2
+771 more
Copy number gain
See cases
GPathogenic
Format
Items per page
Sort by
Choose Destination