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Items: 1 to 100 of 572

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LCA5L, LINC00111
+1159 more
Copy number gain
See cases
GPathogenic
LOC126653353, LOC126653354
+1160 more
Copy number gain
See cases
GPathogenic
KRTAP8-1, LCA5L
+1160 more
Copy number gain
See cases
GPathogenic
RNA5-8SN1, RNA5-8SN2
+1160 more
Copy number gain
See cases
GPathogenic
LOC130066804, LOC130066805
+1160 more
Copy number gain
See cases
GUncertain significance
AATBC, ABCG1
+1160 more
Copy number gain
See cases
GPathogenic
SCAF4, SETD4
+1159 more
Copy number gain
See cases
GPathogenic
LOC126653353, LOC126653354
+1159 more
Copy number gain
See cases
GPathogenic
LOC129388418, LOC129391214
+1160 more
Copy number gain
See cases
GPathogenic
KCNJ6, KCNJ6-AS1
+643 more
Copy number loss
See cases
GPathogenic
AATBC, ABCG1
+1160 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1159 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1157 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1159 more
Copy number gain
See cases
GPathogenic
LINC00515, LINC00649
+1159 more
Copy number gain
See cases
GPathogenic
LOC130066731, LOC130066732
+1159 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1157 more
Copy number gain
See cases
GPathogenic
ETS2-AS1, EVA1C
+1157 more
Copy number gain
See cases
GPathogenic
LOC130066726, LOC130066727
+1159 more
Copy number gain
See cases
GPathogenic
LOC128849172, LOC129388418
+884 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1159 more
Copy number gain
See cases
GPathogenic
SLC5A3, SLX9
+1159 more
Copy number gain
See cases
GPathogenic
LINC01425, LINC01426
+1157 more
Copy number gain
See cases
GPathogenic
LOC130066861, LOC130066862
+1155 more
Copy number gain
See cases
GPathogenic
LOC130066468, LOC130066469
+1155 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1157 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1155 more
Copy number gain
See cases
GPathogenic
LOC112694754, LOC114004360
+1159 more
Copy number gain
See cases
GPathogenic
LOC130066795, LOC130066796
+1156 more
Copy number loss
See cases
GPathogenic
LOC125418053, LOC125418054
+219 more
Copy number loss
Monosomy 21
GPathogenic
ADAMTS1, ADAMTS5
+256 more
Copy number loss
See cases
GPathogenic
ADAMTS1, ADAMTS5
+214 more
Copy number loss
See cases
GPathogenic
HSPA13, JAM2
+209 more
Copy number loss
Monosomy 21
GPathogenic
ADAMTS1, ADAMTS5
+300 more
Copy number loss
See cases
GPathogenic
LOC130066520, LOC130066521
+213 more
Copy number loss
See cases
GPathogenic
BACH1, BACH1-IT2
+215 more
Copy number loss
Monosomy 21
GPathogenic
ADAMTS1, ADAMTS5
+72 more
Copy number loss
See cases
GLikely pathogenic
JAM2, APP
+41 more
Duplication
Alzheimer disease, early-onset, with cerebral amyloid angiopathy
GPathogenic
APP
Copy number gain
See cases
GUncertain significance
APP
Single nucleotide variant
Early-onset autosomal dominant Alzheimer disease
GLikely benign
APP
Single nucleotide variant
(3 prime UTR variant)
Alzheimer disease
GUncertain significance
APP
Single nucleotide variant
(3 prime UTR variant)
Alzheimer disease
GBenign
APP
Single nucleotide variant
(3 prime UTR variant)
Alzheimer disease
GBenign
APP
Single nucleotide variant
(3 prime UTR variant)
Alzheimer disease
+1 more
GBenign
APP
Single nucleotide variant
(3 prime UTR variant)
Alzheimer disease
GUncertain significance
APP
Single nucleotide variant
(3 prime UTR variant)
Alzheimer disease
GLikely benign
APP
Single nucleotide variant
(3 prime UTR variant)
Alzheimer disease
GUncertain significance
APP
Single nucleotide variant
(3 prime UTR variant)
Alzheimer disease
GBenign
APP
Single nucleotide variant
(3 prime UTR variant)
Alzheimer disease
GLikely benign
APP
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GLikely benign
APP
Single nucleotide variant
(3 prime UTR variant)
Alzheimer disease
GLikely benign
APP
Single nucleotide variant
(3 prime UTR variant)
Alzheimer disease
GUncertain significance
APP
Single nucleotide variant
(3 prime UTR variant)
Alzheimer disease
GUncertain significance
APP
Single nucleotide variant
(3 prime UTR variant)
Alzheimer disease
GUncertain significance
APP
Single nucleotide variant
(3 prime UTR variant)
Alzheimer disease
GLikely benign
APP
Single nucleotide variant
(3 prime UTR variant)
Alzheimer disease
GUncertain significance
APP
Single nucleotide variant
(3 prime UTR variant)
Alzheimer disease
GUncertain significance
APP
Microsatellite
(3 prime UTR variant)
APP-related disorder
GUncertain significance
APP
Single nucleotide variant
(3 prime UTR variant)
Alzheimer disease
GUncertain significance
APP
Single nucleotide variant
(3 prime UTR variant)
Alzheimer disease
GUncertain significance
APP
Single nucleotide variant
(3 prime UTR variant)
Alzheimer disease
GUncertain significance
APP
Single nucleotide variant
(3 prime UTR variant)
not provided
GUncertain significance
APP
Single nucleotide variant
(3 prime UTR variant)
Alzheimer disease
GUncertain significance
APP
Single nucleotide variant
(3 prime UTR variant)
not provided
GUncertain significance
APP
Single nucleotide variant
(3 prime UTR variant)
not provided
GUncertain significance
APP
(Y631F +9 more)
Single nucleotide variant
(missense variant)
Alzheimer disease
GUncertain significance
APP
(T651A +9 more)
Single nucleotide variant
(missense variant)
Alzheimer disease
GUncertain significance
APP
Single nucleotide variant
(synonymous variant)
Alzheimer disease
GLikely benign
APP
(G646D +9 more)
Single nucleotide variant
(missense variant)
Alzheimer disease
GUncertain significance
APP
Single nucleotide variant
(synonymous variant)
Alzheimer disease
GLikely benign
APP
(K620N +9 more)
Single nucleotide variant
(missense variant)
Alzheimer disease
+1 more
GUncertain significance
APP
Single nucleotide variant
(synonymous variant)
Alzheimer disease
GLikely benign
APP
(R729H +9 more)
Single nucleotide variant
(missense variant)
Alzheimer disease
+1 more
GUncertain significance
APP
(V611I +9 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
APP
(A610del +9 more)
Deletion
(inframe_deletion)
not provided
GUncertain significance
APP
Single nucleotide variant
(synonymous variant)
Alzheimer disease
GBenign
APP
(V607I +9 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
APP
Deletion
(intron variant)
Alzheimer disease
+1 more
GConflicting classifications of pathogenicity
APP
Deletion
(intron variant)
Alzheimer disease
+2 more
GConflicting classifications of pathogenicity
APP
Deletion
(intron variant)
Alzheimer disease
GLikely benign
APP
Single nucleotide variant
(intron variant)
Alzheimer disease
GBenign
APP
Single nucleotide variant
(intron variant)
Alzheimer disease
GLikely benign
APP
Single nucleotide variant
(intron variant)
not provided
GLikely benign
APP
Single nucleotide variant
(intron variant)
not provided
GBenign
APP
Single nucleotide variant
(intron variant)
not provided
GBenign
APP
Single nucleotide variant
(intron variant)
not provided
GBenign
APP
Single nucleotide variant
(intron variant)
not provided
GBenign
APP
Single nucleotide variant
(intron variant)
not provided
GBenign
APP
Single nucleotide variant
(intron variant)
Alzheimer disease
GLikely benign
APP
(K594N +9 more)
Single nucleotide variant
(missense variant)
Alzheimer disease
GUncertain significance
APP
(K724N +9 more)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
APP
(L723P +9 more)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
APP
(T588P +9 more)
Single nucleotide variant
(missense variant)
Alzheimer disease type 1
GLikely pathogenic
APP
(V717G +9 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
APP
(V717L +9 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
APP
(V717F +9 more)
Single nucleotide variant
(missense variant)
Alzheimer disease
+2 more
GPathogenic
APP
(V717I +9 more)
Single nucleotide variant
(missense variant)
Alzheimer disease
+3 more
GPathogenic
APP
(I585M +9 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
APP
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+5 more
GLikely benign
APP
Single nucleotide variant
(synonymous variant)
Alzheimer disease
+1 more
GBenign
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