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Items: 92

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
JPH2, KAT14
+2522 more
Copy number gain
See cases
GPathogenic
ABHD16B, ACOT8
+1024 more
Copy number gain
See cases
GPathogenic
ABHD16B, ADNP
+635 more
Copy number gain
20q13.13qter duplication
GPathogenic
LOC130066385, LOC130066386
+553 more
Copy number gain
See cases
GLikely pathogenic
LOC130066289, LOC130066290
+491 more
Copy number gain
See cases
GPathogenic
LOC130066383, LOC130066384
+464 more
Copy number gain
See cases
GPathogenic
LOC130066362, LOC130066363
+355 more
Copy number gain
See cases
GPathogenic
ABHD16B, ADRM1
+312 more
Copy number gain
See cases
GPathogenic
ADRM1, ARFGAP1
+198 more
Duplication
not specified
GUncertain significance
LOC130066313, LOC130066314
+183 more
Copy number loss
See cases
GPathogenic
ABHD16B, ARFGAP1
+249 more
Copy number loss
See cases
GPathogenic
ABHD16B, ARFGAP1
+248 more
Copy number loss
See cases
GPathogenic
LOC130066412, LOC130066413
+244 more
Copy number loss
See cases
GPathogenic
ARFGAP1, ARFRP1
+165 more
Copy number loss
Neurodevelopmental disorder
GPathogenic
ABHD16B, ARFGAP1
+230 more
Copy number loss
See cases
GPathogenic
ARFGAP1, BHLHE23
+102 more
Duplication
not provided
GUncertain significance
ARFGAP1, BIRC7
+37 more
Copy number loss
See cases
GPathogenic
RGS19, RTEL1
+181 more
Copy number loss
See cases
GPathogenic
ABHD16B, ARFGAP1
+177 more
Copy number gain
See cases
GPathogenic
ABHD16B, ARFGAP1
+177 more
Copy number loss
See cases
GLikely pathogenic
BIRC7
(D5G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BIRC7
(R12H)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
BIRC7
(G22S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BIRC7
(G57C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BIRC7
(G72R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BIRC7
(L75S)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
BIRC7
(G78R)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
BIRC7
(P79A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BIRC7
(G83S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BIRC7
(F153L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BIRC7
(R160K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BIRC7
(S176C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BIRC7
(P183L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BIRC7
(A187G)
Single nucleotide variant
(missense variant)
not provided
GBenign
BIRC7
(P204S)
Single nucleotide variant
(missense variant)
not provided
GBenign
BIRC7
(P204R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BIRC7
(R244W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BIRC7
(R227W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BIRC7
(R245Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARFGAP1, BIRC7
+15 more
Copy number loss
Breast ductal adenocarcinoma
GUncertain significance
BIRC7
(V260M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BIRC7
(V242L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BIRC7
(I262V +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
BIRC7
(P248S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BIRC7
(V271I +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
BIRC7
(R272C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BIRC7
(R274H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADRM1, ARFGAP1
+27 more
Duplication
Early infantile epileptic encephalopathy with suppression bursts
GUncertain significance
ARFGAP1, ARFRP1
+22 more
Copy number loss
not specified
GPathogenic
ARFGAP1, BHLHE23
+15 more
Copy number loss
not specified
GPathogenic
ARFGAP1, BIRC7
+13 more
Copy number gain
See cases
GUncertain significance
ABHD16B, ADRM1
+113 more
Copy number gain
See cases
GUncertain significance
ARFGAP1, BHLHE23
+13 more
Deletion
Early infantile epileptic encephalopathy with suppression bursts
GPathogenic
ABHD16B, ADRM1
+50 more
Duplication
Early infantile epileptic encephalopathy with suppression bursts
+1 more
GUncertain significance
ABHD16B, ADRM1
+63 more
Copy number gain
not provided
GUncertain significance
ARFGAP1, BIRC7
+14 more
Copy number loss
not specified
GPathogenic
ABHD16B, ARFGAP1
+38 more
Copy number loss
not specified
GPathogenic
ABHD16B, ARFGAP1
+51 more
Copy number loss
not specified
GPathogenic
OGFR, OPRL1
+64 more
Copy number gain
not specified
GUncertain significance
LAMA5, LIME1
+88 more
Copy number gain
not specified
GPathogenic
ARFGAP1, BHLHE23
+14 more
Deletion
Autosomal dominant nocturnal frontal lobe epilepsy
+1 more
GUncertain significance
ARFGAP1, BHLHE23
+7 more
Copy number loss
not provided
GUncertain significance
ABHD16B, ARFGAP1
+35 more
Copy number loss
not provided
GPathogenic
ARFGAP1, BIRC7
+14 more
Copy number gain
not provided
GUncertain significance
ARFGAP1, BIRC7
+14 more
Copy number loss
Developmental and epileptic encephalopathy, 2
GPathogenic
HELZ2, DIDO1
+51 more
Copy number loss
Seizures, benign familial neonatal, 1
+1 more
GLikely pathogenic
PCMTD2, SAMD10
+47 more
Copy number loss
Seizures, benign familial neonatal, 1
+1 more
GLikely pathogenic
NKAIN4, COL20A1
+44 more
Copy number loss
Seizures, benign familial neonatal, 1
+1 more
GLikely pathogenic
UCKL1, ZGPAT
+27 more
Copy number loss
Seizures, benign familial neonatal, 1
+1 more
GLikely pathogenic
GATA5, ZBTB46
+116 more
Copy number gain
not provided
GPathogenic
ARFGAP1, BHLHE23
+20 more
Copy number loss
Epileptic spasm
GPathogenic
ABHD16B, ADRM1
+49 more
Duplication
Early infantile epileptic encephalopathy with suppression bursts
+1 more
GUncertain significance
CHRNA4, STMN3
+20 more
Copy number gain
not provided
GUncertain significance
ABHD16B, ARFGAP1
+49 more
Copy number loss
not provided
GPathogenic
BHLHE23, ZGPAT
+87 more
Copy number gain
not provided
GPathogenic
CDH4, CHRNA4
+68 more
Copy number gain
not provided
GPathogenic
ARFGAP1, BIRC7
+14 more
Copy number gain
not provided
GUncertain significance
ARFGAP1, BHLHE23
+23 more
Copy number gain
not provided
GUncertain significance
ADRM1, ANKRD60
+86 more
Copy number gain
not provided
GPathogenic
COL20A1, NKAIN4
+14 more
Copy number loss
not provided
GPathogenic
NKAIN4, HAR1B
+7 more
Copy number gain
not provided
GUncertain significance
AAR2, ABHD12
+540 more
Copy number gain
See cases
GPathogenic
AAR2, ABHD12
+540 more
Copy number gain
See cases
GPathogenic
ARFGAP1, BHLHE23
+8 more
Copy number loss
See cases
GLikely benign
ARFGAP1, ARFRP1
+23 more
Copy number gain
See cases
GUncertain significance
ABHD16B, ADRM1
+116 more
Copy number gain
See cases
GLikely pathogenic
COL9A3, DIDO1
+46 more
Copy number loss
not provided
GLikely pathogenic
ARFGAP1, ARFRP1
+35 more
Copy number loss
See cases
GPathogenic
COL20A1, BHLHE23
+24 more
Copy number loss
See cases
GPathogenic
PPDPF, OPRL1
+35 more
Copy number loss
See cases
GPathogenic
ADRM1, ARFGAP1
+26 more
Copy number loss
Breast ductal adenocarcinoma
GUncertain significance
ARFGAP1, BHLHE23
+23 more
Complex
Breast ductal adenocarcinoma
GUncertain significance
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