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Items: 1 to 100 of 121

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
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
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
LINC01424, LINC01436
+643 more
Copy number loss
See cases
GPathogenic
AATBC, ABCG1
+598 more
Copy number gain
See cases
GPathogenic
LOC130066759, LOC130066760
+586 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+568 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+516 more
Copy number loss
See cases
GPathogenic
AATBC, ABCG1
+482 more
Copy number loss
See cases
GPathogenic
AATBC, ABCG1
+268 more
Copy number loss
See cases
GPathogenic
AATBC, ABCG1
+429 more
Copy number loss
See cases
GPathogenic
BNAT1, C21orf58
+416 more
Copy number loss
See cases
GPathogenic
AATBC, ABCG1
+376 more
Copy number loss
See cases
GPathogenic
LOC130066735, LOC130066736
+340 more
Copy number loss
See cases
GPathogenic
LOC130066806, LOC130066807
+334 more
Copy number loss
See cases
GPathogenic
AATBC, ADARB1
+276 more
Copy number loss
See cases
GPathogenic
AATBC, ADARB1
+268 more
Copy number loss
See cases
GPathogenic
KRTAP10-12, KRTAP10-2
+245 more
Duplication
Autism
GLikely pathogenic
AATBC, AGPAT3
+30 more
Copy number gain
See cases
GUncertain significance
AGPAT3
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
AGPAT3
(V12M)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
AGPAT3
(L45V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
AGPAT3
(R52C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
AGPAT3
(G113R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AGPAT3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
AGPAT3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AGPAT3
(T73M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AGPAT3
(R152Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AGPAT3
(R99C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AGPAT3
(R161H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AGPAT3
(E105K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AGPAT3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AGPAT3
(A161T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AGPAT3
(K174Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AGPAT3
(Y187* +1 more)
Single nucleotide variant
(nonsense)
Intellectual disability
GPathogenic
AGPAT3
(E269K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AGPAT3
(P243A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AGPAT3
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
ADARB1, AGPAT3
+60 more
Deletion
not provided
GPathogenic
AGPAT3, CBS
+11 more
Deletion
Progressive myoclonic epilepsy
+1 more
GConflicting classifications of pathogenicity
ABCG1, ADAMTS1
+216 more
Copy number gain
not provided
GPathogenic
ABCG1, ADAMTS1
+216 more
Copy number gain
not specified
GPathogenic
KRTAP10-7, KRTAP10-8
+58 more
Copy number loss
not specified
GPathogenic
CBR1, CBR3
+139 more
Copy number gain
not specified
GPathogenic
KCNJ15, KCNJ6
+118 more
Copy number loss
not specified
GPathogenic
DNMT3L, SLX9
+55 more
Copy number loss
not specified
GPathogenic
DNMT3L, PRMT2
+75 more
Copy number loss
not specified
GPathogenic
ABCG1, ADAMTS1
+201 more
Copy number gain
not specified
GPathogenic
COL18A1, S100B
+72 more
Copy number loss
not specified
GPathogenic
ABCG1, ADARB1
+186 more
Copy number gain
not specified
GPathogenic
ABCG1, ADARB1
+92 more
Copy number loss
not provided
GPathogenic
AGPAT3, AIRE
+10 more
Copy number gain
not provided
GUncertain significance
ABCG1, ADARB1
+72 more
Copy number gain
not provided
GLikely pathogenic
ABCG1, ADARB1
+148 more
Copy number gain
not provided
GPathogenic
CLDN14, CLDN17
+170 more
Copy number gain
not provided
GPathogenic
ABCG1, ADARB1
+74 more
Deletion
Progressive myoclonic epilepsy
+1 more
GConflicting classifications of pathogenicity
ABCG1, ADAMTS1
+217 more
Copy number gain
Down syndrome
GPathogenic
ABCG1, ADARB1
+81 more
Copy number loss
Delayed speech and language development
GPathogenic
ADARB1, AGPAT3
+38 more
Copy number loss
not specified
GPathogenic
AGPAT3, CSTB
+9 more
Copy number gain
not specified
GUncertain significance
ABCG1, ADARB1
+83 more
Copy number loss
not specified
GPathogenic
ADAMTS1, ADAMTS5
+216 more
Copy number gain
not specified
GPathogenic
KCNJ15, N6AMT1
+216 more
Copy number gain
not specified
GPathogenic
ABCG1, ADARB1
+74 more
Deletion
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
GPathogenic
ADARB1, AGPAT3
+57 more
Duplication
not provided
GUncertain significance
ABCG1, ADARB1
+74 more
Duplication
Developmental and epileptic encephalopathy, 30
+2 more
GUncertain significance
ABCG1, ADAMTS1
+217 more
Copy number gain
not provided
GPathogenic
COL6A2, KRTAP20-3
+220 more
Copy number gain
See cases
GPathogenic
ABCG1, ADAMTS1
+217 more
Copy number gain
See cases
GPathogenic
AGPAT3, CSTB
+8 more
Duplication
Progressive myoclonic epilepsy
+1 more
GUncertain significance
KRTAP10-2, KRTAP10-3
+47 more
Duplication
not provided
GUncertain significance
AGPAT3, CSTB
+8 more
Deletion
Progressive myoclonic epilepsy
GPathogenic
AGPAT3, CSTB
+8 more
Deletion
Developmental and epileptic encephalopathy, 30
GPathogenic
ABCG1, ADARB1
+84 more
Copy number gain
See cases
GPathogenic
ADARB1, AGPAT3
+54 more
Copy number loss
not provided
GUncertain significance
ABCG1, ADARB1
+73 more
Copy number loss
not provided
GPathogenic
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