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Items: 1 to 100 of 1169

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABCA7, ABHD17A
+687 more
Copy number gain
See cases
GPathogenic
ABCA7, ABHD17A
+903 more
Copy number gain
See cases
GPathogenic
ABCA7, ABHD17A
+429 more
Copy number gain
See cases
GPathogenic
ABCA7, ABHD17A
+453 more
Copy number gain
See cases
GLikely pathogenic
ABHD17A, ADAMTSL5
+219 more
Copy number gain
See cases
GUncertain significance
ABHD17A, ADAT3
+387 more
Copy number loss
See cases
GPathogenic
ABHD17A, ADAT3
+362 more
Copy number gain
See cases
GPathogenic
ABHD17A, ADAT3
+108 more
Copy number loss
See cases
GPathogenic
LOC130063246, LOC130063247
+810 more
Copy number gain
See cases
GPathogenic
AP3D1
(K1202E +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
AP3D1
(A1201T +2 more)
Single nucleotide variant
(missense variant)
Hermansky-Pudlak syndrome 10
+1 more
GUncertain significance
AP3D1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AP3D1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AP3D1
(T1149M +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AP3D1
(A1198V +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AP3D1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AP3D1
(M1146V +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AP3D1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AP3D1
(E1144K +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AP3D1
Single nucleotide variant
(synonymous variant)
AP3D1-related condition
+1 more
GLikely benign
AP3D1
(S1202T +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AP3D1
Single nucleotide variant
(synonymous variant)
AP3D1-related condition
+1 more
GLikely benign
AP3D1
(T1137M +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
AP3D1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AP3D1
(D1180N +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AP3D1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AP3D1
(V1127fs +1 more)
Deletion
(frameshift variant)
Hermansky-Pudlak syndrome 10
GPathogenic
AP3D1
(S1176C +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AP3D1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
AP3D1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
AP3D1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
AP3D1
Single nucleotide variant
(intron variant)
not provided
GBenign
AP3D1
Single nucleotide variant
(intron variant)
not provided
GBenign
AP3D1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
AP3D1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AP3D1
(C1167Y +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AP3D1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AP3D1
(V1116I +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AP3D1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AP3D1
(G1163R +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AP3D1
(Q1112R +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
AP3D1
(R1109C +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AP3D1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AP3D1
(M1156I +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AP3D1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AP3D1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AP3D1
(C1103G +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
AP3D1
(S1164P +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AP3D1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AP3D1
(R1099Q +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AP3D1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
AP3D1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
AP3D1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
AP3D1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
AP3D1
Single nucleotide variant
(intron variant)
not provided
GBenign
AP3D1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
AP3D1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
AP3D1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
AP3D1
Single nucleotide variant
(intron variant)
not provided
GBenign
AP3D1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
AP3D1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
AP3D1
(V1146L +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AP3D1
(V1096I +2 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
AP3D1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
AP3D1
Single nucleotide variant
(synonymous variant)
AP3D1-related condition
GLikely benign
AP3D1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AP3D1
(I1088M +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AP3D1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AP3D1
(A1148V +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AP3D1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AP3D1
(L1084F +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AP3D1
(N1145K +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely benign
AP3D1
(Q1144E +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
AP3D1
(R1140Q +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AP3D1
(D1075N +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AP3D1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AP3D1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AP3D1
(K1073T +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
AP3D1
(I1122M +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AP3D1
(I1072V +2 more)
Single nucleotide variant
(missense variant)
AP3D1-related condition
+1 more
GBenign
AP3D1
(I1072L +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
AP3D1
(L1117F +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AP3D1
(L1129S +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AP3D1
(D1066E +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AP3D1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AP3D1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AP3D1
(A1057G +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AP3D1
(A1107T +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AP3D1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AP3D1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
AP3D1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
AP3D1
Single nucleotide variant
(intron variant)
not provided
GBenign
AP3D1
Single nucleotide variant
(intron variant)
not provided
GBenign
AP3D1
Single nucleotide variant
(intron variant)
not provided
GBenign
AP3D1
Single nucleotide variant
(intron variant)
not provided
GBenign
AP3D1
Single nucleotide variant
(intron variant)
not provided
GBenign
AP3D1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
AP3D1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
AP3D1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
AP3D1
(Y1054H +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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