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Items: 1 to 100 of 280

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130006930, LOC130006931
+1199 more
Copy number gain
See cases
GPathogenic
LOC130007012, LOC130007013
+769 more
Copy number gain
See cases
GPathogenic
LOC126861364, LOC126861365
+764 more
Copy number gain
See cases
GPathogenic
ABCG4, ACAD8
+764 more
Copy number gain
See cases
GPathogenic
ABCG4, ACAD8
+764 more
Copy number gain
See cases
GPathogenic
FRA11B, FXYD2
+763 more
Copy number gain
See cases
GPathogenic
ABCG4, ACAD8
+635 more
Copy number gain
See cases
GPathogenic
LOC130007028, LOC130007029
+608 more
Duplication
Schizophrenia
GLikely pathogenic
LOC130006995, LOC130006996
+551 more
Copy number loss
See cases
GPathogenic
LOC121832824, LOC124625855
+549 more
Copy number loss
See cases
GPathogenic
OR8G5, PANX3
+519 more
Copy number gain
See cases
GPathogenic
ACAD8, ACRV1
+488 more
Copy number loss
See cases
GPathogenic
ACAD8, ACRV1
+497 more
Copy number loss
See cases
GPathogenic
LOC126861375, LOC126861376
+444 more
Copy number loss
See cases
GPathogenic
ACAD8, ACRV1
+442 more
Copy number loss
See cases
GPathogenic
ACAD8, ACRV1
+440 more
Copy number loss
See cases
GPathogenic
ACAD8, ACRV1
+439 more
Copy number loss
See cases
GPathogenic
ACAD8, ACRV1
+368 more
Copy number loss
See cases
GPathogenic
ACAD8, ACRV1
+363 more
Copy number loss
See cases
GPathogenic
ACAD8, ACRV1
+353 more
Copy number loss
See cases
GPathogenic
ACAD8, ACRV1
+352 more
Copy number loss
See cases
GPathogenic
ACAD8, ACRV1
+343 more
Copy number loss
See cases
GPathogenic
LOC121392954, LOC121832822
+312 more
Copy number loss
See cases
GPathogenic
ACAD8, ACRV1
+299 more
Copy number loss
See cases
GPathogenic
ACAD8, ADAMTS15
+266 more
Copy number loss
See cases
GPathogenic
ACAD8, ADAMTS15
+265 more
Copy number loss
See cases
GPathogenic
LOC130007027, LOC130007028
+261 more
Copy number loss
See cases
GPathogenic
ACAD8, ADAMTS15
+239 more
Copy number loss
See cases
GPathogenic
ACAD8, ADAMTS15
+239 more
Copy number gain
See cases
GPathogenic
LOC130007109, LOC130007110
+222 more
Copy number loss
See cases
GPathogenic
ACAD8, ADAMTS15
+221 more
Copy number loss
See cases
GPathogenic
ACAD8, ADAMTS15
+220 more
Copy number loss
See cases
GPathogenic
LOC130007100, LOC130007101
+145 more
Copy number loss
See cases
GPathogenic
ACAD8, ADAMTS15
+123 more
Copy number loss
See cases
GPathogenic
ACAD8, B3GAT1
+99 more
Copy number loss
See cases
GPathogenic
ACAD8, B3GAT1
+88 more
Copy number loss
See cases
GPathogenic
ACAD8, B3GAT1
+75 more
Copy number loss
See cases
GPathogenic
ACAD8, B3GAT1
+65 more
Copy number loss
See cases
GUncertain significance
LOC130007119, LOC130007120
+62 more
Copy number loss
See cases
GPathogenic
ACAD8, B3GAT1
+60 more
Copy number loss
See cases
GLikely pathogenic
NCAPD3
Single nucleotide variant
(synonymous variant +1 more)
NCAPD3-related disorder
GLikely benign
NCAPD3
(K1357* +2 more)
Single nucleotide variant
(nonsense +1 more)
not specified
GUncertain significance
NCAPD3
(R1352Q +2 more)
Single nucleotide variant
(missense variant +1 more)
NCAPD3-related disorder
GBenign
NCAPD3
(K1341E +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NCAPD3
(R1477T +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
NCAPD3
(A1338T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NCAPD3
(R1335L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NCAPD3
Single nucleotide variant
(splice donor variant +1 more)
Microcephaly 22, primary, autosomal recessive
GLikely pathogenic
NCAPD3
(N1314S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NCAPD3
(G1313R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NCAPD3
(K1306N +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NCAPD3
Single nucleotide variant
(intron variant)
NCAPD3-related disorder
GLikely benign
NCAPD3
(R1298W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCAPD3
(I1294V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCAPD3
Single nucleotide variant
(intron variant)
NCAPD3-related disorder
GLikely benign
NCAPD3
Single nucleotide variant
(synonymous variant)
NCAPD3-related disorder
GLikely benign
NCAPD3
(I1275V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCAPD3
(V1408M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCAPD3
(H1407Q +1 more)
Single nucleotide variant
(missense variant)
NCAPD3-related disorder
+1 more
GBenign
NCAPD3
(E1404K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCAPD3
(T1250M +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
NCAPD3
(P1239S +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
NCAPD3
(R1233Q +1 more)
Single nucleotide variant
(missense variant)
NCAPD3-related disorder
GLikely benign
NCAPD3
(S1370R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCAPD3
(V1224M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCAPD3
Single nucleotide variant
(synonymous variant)
NCAPD3-related disorder
GBenign
NCAPD3
(K1221Q +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
NCAPD3
(L1211P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCAPD3
(A1344V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCAPD3
(V1312M +1 more)
Single nucleotide variant
(missense variant)
NCAPD3-related disorder
+1 more
GBenign
NCAPD3
(P1168A +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
NCAPD3
(P1160L +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
NCAPD3
Single nucleotide variant
(intron variant)
not specified
GUncertain significance
NCAPD3
Single nucleotide variant
(synonymous variant)
NCAPD3-related disorder
+1 more
GBenign
NCAPD3
(T1140M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCAPD3
(E1222K +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NCAPD3
(V1073L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCAPD3
Single nucleotide variant
(synonymous variant)
NCAPD3-related disorder
GLikely benign
NCAPD3
(I1066V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCAPD3
Single nucleotide variant
(intron variant)
NCAPD3-related disorder
GLikely benign
NCAPD3
Single nucleotide variant
(synonymous variant)
NCAPD3-related disorder
+1 more
GBenign/Likely benign
NCAPD3
(A1177V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCAPD3
(A1175V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCAPD3
(M1036V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCAPD3
(E1033del +1 more)
Microsatellite
(inframe_deletion)
Intellectual disability
GLikely benign
NCAPD3
(E1171D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCAPD3
(E1033K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCAPD3
(D1166N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCAPD3
(P1025A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCAPD3
(M1021V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCAPD3
(E1153A +1 more)
Single nucleotide variant
(missense variant)
Microcephaly 22, primary, autosomal recessive
GPathogenic
NCAPD3
Single nucleotide variant
(synonymous variant)
NCAPD3-related disorder
GLikely benign
NCAPD3
(T1145M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCAPD3
Single nucleotide variant
(synonymous variant)
NCAPD3-related disorder
GLikely benign
NCAPD3
Single nucleotide variant
(synonymous variant)
NCAPD3-related disorder
GLikely benign
NCAPD3
(A1125G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCAPD3
(N1114S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCAPD3
(N976D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCAPD3
(F975Y +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCAPD3
Single nucleotide variant
(synonymous variant)
NCAPD3-related disorder
GLikely benign
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