U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 53

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC124210612, LOC124210613
+3786 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
LOC110121197, LOC110121234
+3786 more
Copy number gain
See cases
GPathogenic
LOC121331342, LOC121331343
+3786 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
ABCA1, ABHD17B
+1188 more
Copy number gain
See cases
GPathogenic
LOC130002218, LOC130002219
+994 more
Copy number gain
See cases
GPathogenic
LOC126860732, LOC126860733
+514 more
Copy number loss
See cases
GPathogenic
ABCA1, ABITRAM
+514 more
Copy number loss
See cases
GPathogenic
CT70, CTNNAL1
+509 more
Copy number loss
See cases
GPathogenic
ABCA1, ABITRAM
+310 more
Copy number loss
See cases
GPathogenic
PALM2AKAP2, PAPPA
+377 more
Copy number loss
See cases
GPathogenic
LPAR1
(S326L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LPAR1
(G318S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LPAR1
(A287V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LPAR1
(V282A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LPAR1
(V243I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LPAR1
(S226F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LPAR1
(S226T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LPAR1
(M156V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LPAR1
(V152A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LPAR1
(R134C +1 more)
Single nucleotide variant
(missense variant)
EBV-positive nodal T- and NK-cell lymphoma
GLikely benign
LPAR1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
LPAR1
(M88T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LPAR1
(H63Y +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LPAR1
(R78C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LPAR1
(I43V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LPAR1
(E10K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LPAR1
(N2S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LPAR1
(S5P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LPAR1
Copy number loss
not specified
GUncertain significance
DMAC1, DMRT1
+769 more
Copy number gain
not specified
GPathogenic
ADAMTSL1, CEP78
+596 more
Copy number gain
See cases
GPathogenic
DNAJC25, DNAJC25-GNG10
+19 more
Copy number loss
See cases
GUncertain significance
ATOSB, ATP6V1G1
+417 more
Copy number loss
Distal tetrasomy 15q
GUncertain significance
ABITRAM, ACTL7A
+61 more
Copy number loss
not specified
GLikely pathogenic
ABCA1, ABITRAM
+130 more
Copy number loss
not specified
GPathogenic
ABCA1, ABHD17B
+261 more
Copy number gain
not specified
GLikely pathogenic
ANKRD18A, ANKRD18B
+768 more
Copy number gain
not specified
GPathogenic
AMBP, ANAPC2
+552 more
Copy number gain
not provided
GPathogenic
MSMP, OR13D1
+769 more
Copy number gain
not provided
GPathogenic
TXN, FKTN
+44 more
Copy number loss
not provided
GPathogenic
LPAR1, EPB41L4B
+32 more
Copy number gain
not provided
GLikely pathogenic
ANGPTL2, ANKS6
+555 more
Copy number gain
Seizure
+2 more
GLikely pathogenic
ODF2, OGN
+769 more
Copy number gain
See cases
GPathogenic
ABCA1, ABCA2
+771 more
Copy number gain
See cases
GPathogenic
ABITRAM, ACTL7A
+61 more
Copy number loss
See cases
GPathogenic
ABCA1, ABITRAM
+48 more
Copy number loss
See cases
GPathogenic
ABCA1, ABCA2
+771 more
Copy number gain
See cases
GPathogenic
Format
Items per page
Sort by
Choose Destination