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Items: 1 to 100 of 214

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130001767, LOC130001768
+1006 more
Copy number gain
See cases
GPathogenic
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
LOC130001680, LOC130001681
+1062 more
Copy number gain
See cases
GPathogenic
LOC124210611, LOC124210612
+1120 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
LOC130001484, LOC130001485
+883 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
LOC130001517, LOC130001518
+484 more
Copy number gain
See cases
GPathogenic
ABCA1, ABCA2
+3786 more
Copy number gain
See cases
GPathogenic
ACER2, ADAMTSL1
+458 more
Copy number gain
See cases
GPathogenic
LOC130001585, LOC130001586
+984 more
Copy number gain
See cases
GPathogenic
LOC130001507, LOC130001508
+899 more
Copy number gain
See cases
GPathogenic
ACER2, ACO1
+582 more
Copy number gain
See cases
GPathogenic
LOC130001746, LOC130001747
+980 more
Copy number gain
See cases
GPathogenic
ACER2, ACO1
+899 more
Copy number gain
See cases
GPathogenic
LOC130002189, LOC130002190
+3786 more
Copy number gain
See cases
GPathogenic
ACER2, ACO1
+539 more
Copy number gain
See cases
GPathogenic
LOC130001520, LOC130001521
+410 more
Copy number gain
See cases
GPathogenic
SPATA31F3, SPATA31G1
+898 more
Copy number gain
See cases
GPathogenic
ANKRD18B, APTX
+899 more
Copy number gain
See cases
GPathogenic
ACER2, ACO1
+894 more
Copy number gain
See cases
GPathogenic
SLC1A1, SLC24A2
+461 more
Copy number gain
See cases
GPathogenic
CDKN2B, CDKN2B-AS1
+412 more
Copy number gain
See cases
GPathogenic
LOC126860594, LOC126860595
+355 more
Copy number gain
See cases
GPathogenic
ACER2, ACO1
+586 more
Copy number gain
See cases
GPathogenic
ACER2, ADAMTSL1
+243 more
Copy number gain
See cases
GPathogenic
ACER2, ACO1
+691 more
Copy number gain
See cases
GPathogenic
DENND4C
(I5V +1 more)
Single nucleotide variant
(missense variant +3 more)
not specified
GUncertain significance
DENND4C
(C243G +1 more)
Single nucleotide variant
(missense variant +3 more)
not specified
GUncertain significance
DENND4C
(W244C +1 more)
Single nucleotide variant
(missense variant +3 more)
not specified
GUncertain significance
DENND4C
(P15L +1 more)
Single nucleotide variant
(missense variant +3 more)
not specified
GUncertain significance
DENND4C
(Q274R +1 more)
Single nucleotide variant
(missense variant +3 more)
not specified
GUncertain significance
DENND4C
(P61H +1 more)
Single nucleotide variant
(missense variant +3 more)
not specified
GUncertain significance
DENND4C
(H318R +1 more)
Single nucleotide variant
(missense variant +3 more)
not specified
GUncertain significance
DENND4C
(M94R +1 more)
Single nucleotide variant
(missense variant +3 more)
not specified
GUncertain significance
DENND4C
(S100C +1 more)
Single nucleotide variant
(missense variant +3 more)
not specified
GUncertain significance
DENND4C
(P128L +2 more)
Single nucleotide variant
(missense variant +3 more)
not specified
GUncertain significance
DENND4C
(D374V +2 more)
Single nucleotide variant
(missense variant +3 more)
not specified
GUncertain significance
DENND4C
(G165V +2 more)
Single nucleotide variant
(missense variant +3 more)
not specified
GUncertain significance
DENND4C
(A170S +2 more)
Single nucleotide variant
(missense variant +3 more)
not specified
GUncertain significance
ACER2, DENND4C
+7 more
Copy number gain
See cases
GLikely benign
DENND4C
(I231V +3 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
DENND4C
(D127E +3 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
DENND4C
(D488E +3 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
DENND4C
(Y143H +3 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
DENND4C
(D262G +4 more)
Single nucleotide variant
(missense variant +3 more)
not specified
GUncertain significance
DENND4C
(K149N +4 more)
Single nucleotide variant
(missense variant +3 more)
not specified
GUncertain significance
DENND4C
(M58I +5 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
DENND4C
(E170Q +5 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
DENND4C
(E170G +5 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
DENND4C
(S336C +5 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
DENND4C
(R216H +5 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
DENND4C
(L224R +5 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
DENND4C
(D665E +5 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
DENND4C
(D304N +5 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
DENND4C
(K473R +5 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
DENND4C
(P486L +5 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
DENND4C
(K374E +5 more)
Single nucleotide variant
(intron variant +2 more)
not specified
GUncertain significance
DENND4C
(T232I +5 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
DENND4C
(M710V +5 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
DENND4C
(K511R +5 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
DENND4C
(T190R +6 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
DENND4C
(L272Q +6 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
DENND4C
(V445G +6 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
DENND4C
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
DENND4C
(M591T +7 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DENND4C
(V830D +7 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DENND4C
(S876R +7 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DENND4C
(R387H +7 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
DENND4C
(I408T +7 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DENND4C
(P451T +9 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DENND4C
(S546R +9 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DENND4C
(S1000N +9 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DENND4C
(F1005S +9 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DENND4C
(P1021H +9 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DENND4C
(M885V +9 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DENND4C
(K572E +9 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DENND4C
(A1138S +9 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DENND4C
(S1142N +9 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DENND4C
(P1141S +9 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DENND4C
(T1198S +9 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DENND4C
(T1155A +9 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DENND4C
(S1143I +9 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DENND4C
(R1134G +9 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DENND4C
(L1171M +9 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DENND4C
(V1191M +9 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DENND4C
(D1239G +9 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DENND4C
(A1188V +9 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DENND4C
(D1186N +9 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DENND4C
(P1225L +9 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DENND4C
(S1065R +9 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DENND4C
(H818R +9 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DENND4C
(E989G +9 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DENND4C
(E1259G +9 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
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