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
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
ABCA2, ABL1
+1272 more
Copy number gain
See cases
GPathogenic
ABCA2, ABL1
+1268 more
Copy number gain
See cases
GPathogenic
LOC130003132, LOC130003133
+1210 more
Copy number gain
See cases
GPathogenic
ADGRD2, ARPC5L
+172 more
Copy number loss
See cases
GPathogenic
NEK6
(W8R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NEK6
(E9K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NEK6
(R24Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NEK6
(R24L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NEK6
(R10H +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NEK6
(H10R +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEK6
(S47C +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEK6
(S39P +3 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
NEK6
(N41K +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEK6
(G22W +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEK6
(T53A +3 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
NEK6
(T35M +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEK6
(E82K +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEK6
(E58K +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEK6
Single nucleotide variant
(synonymous variant)
not provided
GBenign
NEK6
(I112M +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEK6
(I152M +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEK6
(P170L +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEK6
(V178M +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEK6
(R200C +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEK6
(S232A +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEK6
(M277I +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEK6
(G296R +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEK6
(E294K +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEK6
(V299M +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEK6
(H341R +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADGRD2, C5
+50 more
Copy number loss
not specified
GPathogenic
DMAC1, DMRT1
+769 more
Copy number gain
not specified
GPathogenic
ADGRD2, ANGPTL2
+59 more
Copy number loss
not provided
GPathogenic
ADAMTSL1, CEP78
+596 more
Copy number gain
See cases
GPathogenic
ADGRD2, NEK6
+3 more
Copy number gain
not specified
GUncertain significance
ADGRD2, AK1
+141 more
Copy number gain
not specified
GPathogenic
ANKRD18A, ANKRD18B
+768 more
Copy number gain
not specified
GPathogenic
ADGRD2, ASTN2
+49 more
Copy number loss
not provided
GPathogenic
AMBP, ANAPC2
+552 more
Copy number gain
not provided
GPathogenic
MSMP, OR13D1
+769 more
Copy number gain
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
ABCA1, ABCA2
+771 more
Copy number gain
See cases
GPathogenic
ABCA2, ABL1
+279 more
Copy number gain
See cases
GPathogenic
ABCA1, ABCA2
+771 more
Copy number gain
See cases
GPathogenic
Format
Items per page
Sort by
Choose Destination