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Items: 77

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
ADAMTS1, ADAMTS5
+15 more
Copy number loss
See cases
GLikely benign
CYYR1, CYYR1-AS1
(P146T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CYYR1, CYYR1-AS1
(C125S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CYYR1, CYYR1-AS1
(M123T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CYYR1, CYYR1-AS1
(M86T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CYYR1, CYYR1-AS1
(G55R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CYYR1, CYYR1-AS1
(S37T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CYYR1
(V8L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CYYR1
(P4Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CYYR1
(P4S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ABCG1, ADAMTS1
+216 more
Copy number gain
not provided
GPathogenic
ABCG1, ADAMTS1
+216 more
Copy number gain
not specified
GPathogenic
ABCG1, ADAMTS1
+201 more
Copy number gain
not specified
GPathogenic
ADAMTS1, ADAMTS5
+14 more
Copy number gain
not provided
GPathogenic
N6AMT1, NCAM2
+52 more
Copy number gain
not provided
GPathogenic
CLDN14, CLDN17
+170 more
Copy number gain
not provided
GPathogenic
ADAMTS1, MIR125B2
+23 more
Copy number gain
See cases
GPathogenic
ABCG1, ADAMTS1
+217 more
Copy number gain
Down syndrome
GPathogenic
KRTAP20-4, KRTAP21-1
+77 more
Copy number loss
not specified
GUncertain significance
ADAMTS1, ADAMTS5
+216 more
Copy number gain
not specified
GPathogenic
KCNJ15, N6AMT1
+216 more
Copy number gain
not specified
GPathogenic
MRPL39, NCAM2
+23 more
Copy number gain
not specified
GPathogenic
ABCG1, ADAMTS1
+217 more
Copy number gain
not provided
GPathogenic
COL6A2, KRTAP20-3
+220 more
Copy number gain
See cases
GPathogenic
ADAMTS1, ADAMTS5
+7 more
Duplication
Alzheimer disease
GPathogenic
ABCG1, ADAMTS1
+217 more
Copy number gain
See cases
GPathogenic
ADAMTS5, ADAMTS1
+1 more
Copy number gain
not provided
GLikely benign
ADAMTS1, ADAMTS5
+44 more
Copy number loss
not provided
GPathogenic
ADAMTS1, ADAMTS5
+23 more
Copy number loss
not provided
GPathogenic
ATP5PF, IL10RB
+217 more
Copy number gain
not provided
GPathogenic
ADAMTS1, ADAMTS5
+23 more
Duplication
Neurodevelopmental disorder
GLikely pathogenic
CYYR1, APP
Copy number gain
not provided
GUncertain significance
ABCG1, ADAMTS1
+217 more
Copy number gain
See cases
GPathogenic
ADAMTS1, ADAMTS5
+23 more
Copy number loss
See cases
GPathogenic
EVA1C, FAM3B
+217 more
Copy number gain
See cases
GPathogenic
ABCG1, ADAMTS1
+216 more
Copy number loss
See cases
GPathogenic
ABCG1, ADAMTS1
+216 more
Copy number gain
See cases
GPathogenic
APP, CYYR1
Copy number gain
Premature ovarian failure
GUncertain significance
SAMSN1, ADAMTS1
+23 more
Duplication
Alzheimer disease
+1 more
GPathogenic
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