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 103

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
+1072 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
AOPEP, ASPN
+268 more
Copy number loss
See cases
GPathogenic
LOC132089736, LOC132089737
+313 more
Copy number gain
See cases
GPathogenic
AOPEP, BARX1
+76 more
Copy number gain
See cases
GUncertain significance
NUTM2F
(H753Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUTM2F
(R752W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUTM2F
(P707L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUTM2F
(S687I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUTM2F
(G669R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUTM2F
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NUTM2F
(R650K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUTM2F
(V643M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUTM2F
(T634M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUTM2F
(S594F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUTM2F
(R591W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUTM2F
(M569V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUTM2F
(V565A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUTM2F
(A556V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUTM2F
(T554I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUTM2F
(V547M)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
NUTM2F
(R515P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUTM2F
(L501P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUTM2F
(Q475H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUTM2F
(D473G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUTM2F
(R464P)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
NUTM2F
(I444T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUTM2F
(G433R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUTM2F
(E426A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUTM2F
(R420Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUTM2F
(R420W)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
NUTM2F
(P410S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUTM2F
(G407W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUTM2F
(L405P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUTM2F
(E404K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUTM2F
(E403K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUTM2F
(V386D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUTM2F
(P381L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUTM2F
(R377S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUTM2F
(P374S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUTM2F
(A356D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUTM2F
(A352V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUTM2F
(P321S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUTM2F
(P318T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUTM2F
(R316Q)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
NUTM2F
(S296L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUTM2F
(E280A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUTM2F
(A279V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUTM2F
(R272W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUTM2F
(T267K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUTM2F
(T267R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUTM2F
(M261V)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
NUTM2F
(G256R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUTM2F
(E254A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUTM2F
(T252M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUTM2F
(M251V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUTM2F
(R246Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUTM2F
(R246W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUTM2F
(I238M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUTM2F
(R196Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUTM2F
(L155F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUTM2F
(S152Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUTM2F
(P95S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUTM2F
(P94L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUTM2F
(P91T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUTM2F
(A78T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUTM2F
(P53R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUTM2F
(P49R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUTM2F
(T26M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUTM2F
(V14M)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
NUTM2F
(G13D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUTM2F
(G11E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AOPEP, BARX1
+14 more
Copy number loss
not specified
GPathogenic
DMAC1, DMRT1
+769 more
Copy number gain
not specified
GPathogenic
NUTM2F, ZNF169
Copy number loss
not provided
GUncertain significance
CARD19, MIR24-1
+106 more
Deletion
not provided
GPathogenic
AOPEP, BARX1
+22 more
Copy number loss
not provided
GPathogenic
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
ALDOB, ALG2
+87 more
Copy number loss
Gorlin syndrome
GPathogenic
TSTD2, XPA
+84 more
Copy number loss
See cases
GPathogenic
BARX1, FAM120A
+11 more
Duplication
Delayed gross motor development
+5 more
GLikely pathogenic
ANKS6, ANP32B
+326 more
Inversion
Abnormal chromosome morphology
+1 more
GLikely pathogenic
AMBP, ANAPC2
+552 more
Copy number gain
not provided
GPathogenic
MSMP, OR13D1
+769 more
Copy number gain
not provided
GPathogenic
AGTPBP1, ASPN
+79 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
Format
Items per page
Sort by
Choose Destination