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Items: 71

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC124210612, LOC124210613
+3786 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
LOC110121197, LOC110121234
+3786 more
Copy number gain
See cases
GPathogenic
LOC121331342, LOC121331343
+3786 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
LOC130002189, LOC130002190
+3786 more
Copy number gain
See cases
GPathogenic
ABCA2, ABL1
+1272 more
Copy number gain
See cases
GPathogenic
ABCA2, ABL1
+1268 more
Copy number gain
See cases
GPathogenic
LOC130003132, LOC130003133
+1210 more
Copy number gain
See cases
GPathogenic
AK1, ANGPTL2
+250 more
Copy number loss
See cases
GPathogenic
AK1, ANGPTL2
+309 more
Copy number loss
See cases
GPathogenic
LOC108281127, LOC113839508
+93 more
Duplication
Congenital muscular dystrophy with intellectual disability and severe epilepsy
GUncertain significance
LOC130002704, LOC130002705
+130 more
Deletion
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
+1 more
GPathogenic
AK1, ASB6
+264 more
Copy number loss
See cases
GPathogenic
ASB6, BBLN
+239 more
Copy number gain
See cases
GPathogenic
PIP5KL1
(A188V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PIP5KL1
(R341C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PIP5KL1
(N127S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PIP5KL1
(E113K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PIP5KL1
(S110C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PIP5KL1
(R100C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PIP5KL1
(E291K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PIP5KL1
(S78G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PIP5KL1
(R273W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PIP5KL1
(L69F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PIP5KL1
(G46V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PIP5KL1
(P34L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PIP5KL1
(A232T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PIP5KL1
(F150L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PIP5KL1
(G127S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PIP5KL1
(Y119H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PIP5KL1
(E117D)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
PIP5KL1
(E116D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PIP5KL1
(R110C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PIP5KL1
(L108M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PIP5KL1
(A106V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PIP5KL1
(L100P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PIP5KL1
(P48L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PIP5KL1
(E45D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PIP5KL1
(Q38H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PIP5KL1
(R33H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PIP5KL1
(R33S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PIP5KL1
(R28Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PIP5KL1
(A18T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC130002674, PIP5KL1
(P4S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AK1, BBLN
+32 more
Deletion
Developmental and epileptic encephalopathy, 31A
+1 more
GPathogenic
ASS1, AK1
+70 more
Duplication
Dystonic disorder
GUncertain significance
DMAC1, DMRT1
+769 more
Copy number gain
not specified
GPathogenic
ADAMTSL1, CEP78
+596 more
Copy number gain
See cases
GPathogenic
AK1, ASB6
+62 more
Copy number loss
not specified
GPathogenic
AK1, ANGPTL2
+29 more
Copy number loss
not specified
GPathogenic
ADGRD2, AK1
+141 more
Copy number gain
not specified
GPathogenic
ANKRD18A, ANKRD18B
+768 more
Copy number gain
not specified
GPathogenic
AK1, BBLN
+22 more
Deletion
Congenital muscular dystrophy with intellectual disability and severe epilepsy
GPathogenic
AK1, ANGPTL2
+75 more
Copy number gain
not provided
GPathogenic
AK1, DPM2
+4 more
Deletion
Hereditary hemorrhagic telangiectasia
GPathogenic
AK1, ANGPTL2
+33 more
Deletion
Early infantile epileptic encephalopathy with suppression bursts
GPathogenic
COQ4, DNM1
+33 more
Copy number loss
Infantile epilepsy syndrome
GPathogenic
AK1, ANGPTL2
+27 more
Copy number loss
Developmental and epileptic encephalopathy, 4
+1 more
GPathogenic
AK1, BBLN
+22 more
Deletion
not provided
GPathogenic
AMBP, ANAPC2
+552 more
Copy number gain
not provided
GPathogenic
MSMP, OR13D1
+769 more
Copy number gain
not provided
GPathogenic
ANGPTL2, ANKS6
+555 more
Copy number gain
Seizure
+2 more
GLikely pathogenic
ODF2, OGN
+769 more
Copy number gain
See cases
GPathogenic
ABCA1, ABCA2
+771 more
Copy number gain
See cases
GPathogenic
ABCA2, ABL1
+228 more
Copy number gain
See cases
GPathogenic
ABCA2, ABL1
+279 more
Copy number gain
See cases
GPathogenic
ABCA1, ABCA2
+771 more
Copy number gain
See cases
GPathogenic
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