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Items: 65

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC124210612, LOC124210613
+3786 more
Copy number gain
See cases
GPathogenic
CDKN2B, CDKN2B-AS1
+1214 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
ABHD17B, ALDH1A1
+148 more
Copy number loss
See cases
GPathogenic
LOC130001938, LOC130001939
+263 more
Copy number loss
See cases
GPathogenic
ABCA1, ABHD17B
+1188 more
Copy number gain
See cases
GPathogenic
ALDH1A1, ANXA1
+90 more
Copy number loss
See cases
GPathogenic
C9orf40, CARNMT1
+102 more
Copy number loss
See cases
GPathogenic
C9orf40, CARNMT1
+24 more
Copy number gain
See cases
GUncertain significance
C9orf40, CARNMT1
+11 more
Copy number loss
See cases
GUncertain significance
CARNMT1, CARNMT1-AS1
(T385I +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CARNMT1, CARNMT1-AS1
(K295N +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CARNMT1, CARNMT1-AS1
(E354K +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CARNMT1, CARNMT1-AS1
(N274S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CARNMT1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
CARNMT1
(G207V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CARNMT1
(K171Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CARNMT1
(I248V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CARNMT1
(E116G +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CARNMT1
(E195Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CARNMT1
(I122M +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CARNMT1
(I43V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CARNMT1
(H29Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CARNMT1
(H29Y +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CARNMT1
(R4Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CARNMT1, LOC130001900
(G77D)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability
GLikely pathogenic
CARNMT1, LOC130001900
(R63H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CARNMT1, LOC130001900
(E62D)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CARNMT1, LOC130001900
(E62Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CARNMT1, LOC130001900
(V30M)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CARNMT1, LOC130001900
(E27K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CARNMT1, LOC130001900
(E26K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CARNMT1, LOC130001900
(G22D)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CARNMT1, LOC130001900
(G21A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
C9orf40, CARNMT1
+6 more
Copy number gain
not specified
GUncertain significance
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
SPATA31A5, SPATA31A6
+257 more
Copy number gain
not specified
GPathogenic
ANKS6, ANP32B
+326 more
Inversion
Abnormal chromosome morphology
+1 more
GLikely pathogenic
AMBP, ANAPC2
+552 more
Copy number gain
not provided
GPathogenic
ABHD17B, ALDH1A1
+42 more
Copy number loss
not provided
GPathogenic
MSMP, OR13D1
+769 more
Copy number gain
not provided
GPathogenic
APBA1, APTX
+185 more
Complex
Glioma
GLikely pathogenic
ABHD17B, ALDH1A1
+54 more
Copy number loss
not provided
GPathogenic
ALDH1A1, ANXA1
+24 more
Copy number loss
not provided
GPathogenic
PCSK5, CARNMT1
+5 more
Copy number loss
not provided
GUncertain significance
ANGPTL2, ANKS6
+555 more
Copy number gain
Seizure
+2 more
GLikely pathogenic
ODF2, OGN
+769 more
Copy number gain
See cases
GPathogenic
ABHD17B, ALDH1A1
+50 more
Copy number gain
See cases
GPathogenic
ABHD17B, ACER2
+274 more
Copy number gain
See cases
GPathogenic
ABHD17B, AGTPBP1
+74 more
Copy number gain
See cases
GPathogenic
ABCA1, ABCA2
+771 more
Copy number gain
See cases
GPathogenic
ABCA1, ABCA2
+771 more
Copy number gain
See cases
GPathogenic
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