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Items: 1 to 100 of 150

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
LOC132089736, LOC132089737
+313 more
Copy number gain
See cases
GPathogenic
ANP32B, AOPEP
+197 more
Copy number loss
See cases
GPathogenic
LOC130002205, LOC130002206
+417 more
Copy number loss
See cases
GPathogenic
CCDC180, LOC121331337
+1 more
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GLikely benign
CCDC180, LOC121331337
+1 more
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
CCDC180, LOC121331337
+1 more
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
CCDC180, SUGT1P4-STRA6LP-CCDC180
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CCDC180, SUGT1P4-STRA6LP-CCDC180
(Y16N)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC180, SUGT1P4-STRA6LP-CCDC180
(Q18H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC180, SUGT1P4-STRA6LP-CCDC180
(E39G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC180, SUGT1P4-STRA6LP-CCDC180
(R40P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC180, SUGT1P4-STRA6LP-CCDC180
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CCDC180, SUGT1P4-STRA6LP-CCDC180
(R66Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC180, SUGT1P4-STRA6LP-CCDC180
(M71L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC180, SUGT1P4-STRA6LP-CCDC180
(S73G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC180, SUGT1P4-STRA6LP-CCDC180
(S100N)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC180, SUGT1P4-STRA6LP-CCDC180
(A106T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC180, SUGT1P4-STRA6LP-CCDC180
(T115S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC180, SUGT1P4-STRA6LP-CCDC180
(P118S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC180, SUGT1P4-STRA6LP-CCDC180
(I121T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC180, SUGT1P4-STRA6LP-CCDC180
(Q129R)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
CCDC180, SUGT1P4-STRA6LP-CCDC180
(E138K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC180, SUGT1P4-STRA6LP-CCDC180
(L190V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC180, SUGT1P4-STRA6LP-CCDC180
(D189N +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC180, SUGT1P4-STRA6LP-CCDC180
(W202L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC180, SUGT1P4-STRA6LP-CCDC180
(H221Y +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC180, SUGT1P4-STRA6LP-CCDC180
(K239R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC180, SUGT1P4-STRA6LP-CCDC180
(E243A +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC180, SUGT1P4-STRA6LP-CCDC180
(R250W +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC180, SUGT1P4-STRA6LP-CCDC180
(A261D +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC180, SUGT1P4-STRA6LP-CCDC180
(V263I +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
CCDC180, SUGT1P4-STRA6LP-CCDC180
(F279S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC180, SUGT1P4-STRA6LP-CCDC180
(R294C +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC180, SUGT1P4-STRA6LP-CCDC180
(R294H +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
CCDC180, SUGT1P4-STRA6LP-CCDC180
(M320V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC180, SUGT1P4-STRA6LP-CCDC180
(S327N +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC180, SUGT1P4-STRA6LP-CCDC180
(N343K +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
CCDC180, SUGT1P4-STRA6LP-CCDC180
(H352L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC180, SUGT1P4-STRA6LP-CCDC180
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CCDC180, SUGT1P4-STRA6LP-CCDC180
(H390Y +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC180, SUGT1P4-STRA6LP-CCDC180
(V391M +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
CCDC180, SUGT1P4-STRA6LP-CCDC180
(R396W +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC180, SUGT1P4-STRA6LP-CCDC180
(R393Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC180, SUGT1P4-STRA6LP-CCDC180
(R398C +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC180, SUGT1P4-STRA6LP-CCDC180
(A444P +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC180, SUGT1P4-STRA6LP-CCDC180
(T464A +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC180, SUGT1P4-STRA6LP-CCDC180
(E491K +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
CCDC180, SUGT1P4-STRA6LP-CCDC180
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CCDC180, SUGT1P4-STRA6LP-CCDC180
(S582C +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC180, SUGT1P4-STRA6LP-CCDC180
(Y584C +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC180, SUGT1P4-STRA6LP-CCDC180
(P612A +1 more)
Single nucleotide variant
(missense variant +1 more)
Breast ductal adenocarcinoma
GUncertain significance
CCDC180, SUGT1P4-STRA6LP-CCDC180
(E651G +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC180, SUGT1P4-STRA6LP-CCDC180
(H679L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC180, SUGT1P4-STRA6LP-CCDC180
(M679T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC180, SUGT1P4-STRA6LP-CCDC180
(E691K +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC180, SUGT1P4-STRA6LP-CCDC180
(E701K +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC180, SUGT1P4-STRA6LP-CCDC180
(A744P +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC180, SUGT1P4-STRA6LP-CCDC180
(Q748E +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
CCDC180, SUGT1P4-STRA6LP-CCDC180
(Q745P +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC180, SUGT1P4-STRA6LP-CCDC180
(Y767S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
CCDC180, SUGT1P4-STRA6LP-CCDC180
(S809C +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
CCDC180, SUGT1P4-STRA6LP-CCDC180
(P820S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC180, SUGT1P4-STRA6LP-CCDC180
(A836S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC180, SUGT1P4-STRA6LP-CCDC180
(E893K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC180, SUGT1P4-STRA6LP-CCDC180
(Q921E)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC180, SUGT1P4-STRA6LP-CCDC180
(V928M)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC180, SUGT1P4-STRA6LP-CCDC180
(R976C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC180, SUGT1P4-STRA6LP-CCDC180
(R976H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SUGT1P4-STRA6LP-CCDC180, CCDC180
(R979W)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
CCDC180, SUGT1P4-STRA6LP-CCDC180
(G1006R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC180, SUGT1P4-STRA6LP-CCDC180
(S1010P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC180, SUGT1P4-STRA6LP-CCDC180
(K1023R)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
CCDC180, SUGT1P4-STRA6LP-CCDC180
(E1040K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC180, SUGT1P4-STRA6LP-CCDC180
(T1079M)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC180, SUGT1P4-STRA6LP-CCDC180
(Q1082P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC180, SUGT1P4-STRA6LP-CCDC180
(S1094L)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
CCDC180, SUGT1P4-STRA6LP-CCDC180
(S1102C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC180, SUGT1P4-STRA6LP-CCDC180
(K1120R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC180, SUGT1P4-STRA6LP-CCDC180
(K1138E)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC180, SUGT1P4-STRA6LP-CCDC180
(N1162T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC180, SUGT1P4-STRA6LP-CCDC180
(V1189L)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
CCDC180, SUGT1P4-STRA6LP-CCDC180
(V1189M)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC180, SUGT1P4-STRA6LP-CCDC180
(V1189A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC180, SUGT1P4-STRA6LP-CCDC180
(P1204H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC180, SUGT1P4-STRA6LP-CCDC180
(D1212G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC180, SUGT1P4-STRA6LP-CCDC180
(P1221L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC180, SUGT1P4-STRA6LP-CCDC180
(P1234L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC180, SUGT1P4-STRA6LP-CCDC180
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
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