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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
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
ABCA1, ABHD17B
+1072 more
Copy number gain
See cases
GPathogenic
ABCA1, ABHD17B
+1188 more
Copy number gain
See cases
GPathogenic
AUH, C9orf153
+214 more
Copy number loss
See cases
GPathogenic
CDK20, CTSL
+28 more
Copy number gain
See cases
GUncertain significance
C9orf47, CDK20
+131 more
Copy number loss
See cases
GPathogenic
CDK20, LINC03026
+1 more
Copy number gain
See cases
GLikely benign
CDK20
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
CDK20
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CDK20
Single nucleotide variant
(synonymous variant +1 more)
CDK20-related disorder
GLikely benign
CDK20
(P333S +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CDK20
(R332Q +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CDK20
(S311L +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CDK20
(E310A +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CDK20
(P307R +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CDK20
(R306W +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CDK20
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CDK20
(R297C +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CDK20
(R284G +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDK20
(K260R +3 more)
Single nucleotide variant
(missense variant)
CDK20-related disorder
GBenign
CDK20
(A271T +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CDK20
(A214T +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDK20
(F207C)
Single nucleotide variant
(synonymous variant +1 more)
not specified
GLikely benign
CDK20
(A240E +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDK20
(T194M)
Single nucleotide variant
(synonymous variant +1 more)
CDK20-related disorder
GLikely benign
CDK20
(V245M +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CDK20
(E244V +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDK20
(R189K)
Single nucleotide variant
(synonymous variant +1 more)
not specified
GLikely benign
CDK20
(D215fs +3 more)
Duplication
(frameshift variant)
Hereditary breast ovarian cancer syndrome
GUncertain significance
CDK20
(P214L +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDK20
Single nucleotide variant
(intron variant)
not provided
GBenign
CDK20
(P217S +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CDK20
(R197C +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CDK20
(Y194H +2 more)
Single nucleotide variant
(missense variant +1 more)
CDK20-related disorder
GUncertain significance
CDK20
(I189L +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CDK20
(D201N +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CDK20
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
CDK20
(F204L +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CDK20
(W188*)
Single nucleotide variant
(nonsense +2 more)
not specified
GUncertain significance
CDK20
Single nucleotide variant
(intron variant)
not provided
GBenign
CDK20
(R179C)
Single nucleotide variant
(missense variant +1 more)
CDK20-related disorder
GLikely benign
CDK20
Single nucleotide variant
(intron variant)
not provided
GBenign
CDK20
Deletion
(intron variant)
not provided
GLikely benign
CDK20
(R158C +1 more)
Single nucleotide variant
(missense variant)
CDK20-related disorder
GLikely benign
CDK20
(D155E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDK20
(D168G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDK20
(S166C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDK20
(K142N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDK20
Single nucleotide variant
(intron variant)
not provided
GBenign
CDK20
(R139W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDK20
Single nucleotide variant
(synonymous variant)
CDK20-related disorder
GLikely benign
CDK20
(R106C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDK20
(V104M +1 more)
Single nucleotide variant
(missense variant)
CDK20-related disorder
GUncertain significance
CDK20
Single nucleotide variant
(synonymous variant)
not provided
GBenign
CDK20
Single nucleotide variant
(synonymous variant)
CDK20-related disorder
GLikely benign
CDK20
Single nucleotide variant
(synonymous variant)
not provided
GBenign
CDK20
Single nucleotide variant
(intron variant)
CDK20-related disorder
GLikely benign
CDK20
Single nucleotide variant
(intron variant)
not provided
GBenign
CDK20
(A48T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDK20
(G43S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDK20
Single nucleotide variant
(synonymous variant)
not provided
GBenign
CDK20
(R39P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDK20
(L37V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDK20
(V35A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDK20
(C32F)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
CDK20
Microsatellite
(intron variant)
CDK20-related disorder
GLikely benign
CDK20
Single nucleotide variant
(intron variant)
not provided
GBenign
CDK20
(E25A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDK20
(E25Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDK20
(H15Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDK20
Single nucleotide variant
(5 prime UTR variant)
CDK20-related disorder
GLikely benign
CDK20
Single nucleotide variant
not provided
GBenign
DMAC1, DMRT1
+769 more
Copy number gain
not specified
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
CDK20, CTSL
+2 more
Copy number gain
not provided
GUncertain significance
CDK20, SPATA31C1
Copy number loss
not provided
GUncertain significance
S1PR3, SHC3
+14 more
Copy number loss
See cases
GLikely pathogenic
CDK20, SPATA31C1
Copy number loss
not provided
GUncertain significance
CKS2, DAPK1-IT1
+14 more
Copy number loss
not provided
GLikely pathogenic
SPATA31C2, CDK20
Copy number gain
not provided
GLikely benign
AUH, C9orf47
+19 more
Copy number gain
not provided
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
ABHD17B, AGTPBP1
+74 more
Copy number gain
See cases
GPathogenic
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