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Items: 1 to 100 of 137

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
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
LOC130001585, LOC130001586
+984 more
Copy number gain
See cases
GPathogenic
LOC130001507, LOC130001508
+899 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
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
ACER2, ACO1
+691 more
Copy number gain
See cases
GPathogenic
ACO1, ALDH1B1
+436 more
Copy number gain
See cases
GLikely pathogenic
ACO1, ALDH1B1
+504 more
Copy number gain
See cases
GPathogenic
ALDH1B1, ANKRD18A
+219 more
Copy number gain
See cases
GPathogenic
ALDH1B1, ANKRD18A
+14 more
Copy number gain
See cases
GUncertain significance
ANKRD18A
(I969V +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
ANKRD18A
(Y1025H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD18A
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ANKRD18A
(T1004I +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
ANKRD18A
(T939A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD18A
(S909P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD18A
(V902M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD18A
(A897G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD18A
(E948D +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ANKRD18A
(C937F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD18A
(K865N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD18A
(Q913P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD18A
(Q851R +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
ANKRD18A
(A846T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD18A
(D889N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD18A
(M809K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD18A
(M797V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD18A
(D794G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD18A
(M843V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD18A
(V835I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD18A
(E756K +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ANKRD18A
(D752E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD18A
(K811R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD18A
(L804V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD18A
(R698H +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ANKRD18A
(K531E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD18A
(M583R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD18A
(M583V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD18A
(D510E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD18A
(S506N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD18A
(V538A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD18A
(W509R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD18A
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ANKRD18A
(K407T +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
ANKRD18A
(A447S +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ANKRD18A
(V384E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD18A
(S434N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD18A
(S423N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD18A
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ANKRD18A
(S348N +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ANKRD18A
(S348G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD18A
(N346I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD18A
(A323T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD18A
(D313N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD18A
(K293E +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ANKRD18A
(R285C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD18A
(P276L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD18A
(P276T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD18A
(E333A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD18A
(M259T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD18A
(R225C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD18A
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ANKRD18A
(S214G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD18A
(H210R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD18A
(V208I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD18A
(M182R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD18A
(R178G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD18A
(L163P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD18A
(K145E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD18A
(D131V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD18A
(H89D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD18A
(V81M)
Single nucleotide variant
(missense variant)
not provided
GBenign
ANKRD18A
(H78Y)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
ANKRD18A
Single nucleotide variant
(intron variant)
not provided
GBenign
ANKRD18A
(D65N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD18A
(K44E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD18A
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ANKRD18A
(Q21P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD18A
(G12C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD18A
(G8A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD18A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ALDH1B1, ANKRD18A
+45 more
Copy number loss
not provided
GPathogenic
ALDH1B1, ANKRD18A
+44 more
Copy number loss
not specified
GLikely pathogenic
DMAC1, DMRT1
+769 more
Copy number gain
not specified
GPathogenic
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