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Items: 55

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABAT, ABCA3
+822 more
Copy number gain
See cases
GPathogenic
ABCA3, AMDHD2
+356 more
Copy number gain
See cases
GPathogenic
EEF2KMT, ELOB
+917 more
Copy number gain
See cases
GPathogenic
LOC125146383, LOC125146384
+556 more
Copy number gain
See cases
GPathogenic
ABAT, ABCA3
+843 more
Copy number gain
See cases
GPathogenic
ANTKMT, ARHGDIG
+253 more
Copy number loss
See cases
GPathogenic
ARHGDIG, ATP6V0C
+482 more
Copy number gain
See cases
GPathogenic
ABAT, ABCA3
+926 more
Copy number gain
See cases
GPathogenic
BAIAP3, BRICD5
+162 more
Copy number gain
See cases
GPathogenic
FAHD1, GFER
+40 more
Copy number gain
See cases
GPathogenic
GFER, HS3ST6
+44 more
Copy number gain
See cases
GUncertain significance
GFER, HS3ST6
+43 more
Deletion
Tuberous sclerosis 2
GPathogenic
GFER, HS3ST6
+40 more
Deletion
Tuberous sclerosis 2
GPathogenic
ABCA3, BRICD5
+39 more
Duplication
Caused by mutation in the TBC1 domain family, member 24
+2 more
GUncertain significance
CRAMP1, EME2
+27 more
Duplication
Tuberous sclerosis 2
GUncertain significance
ABCA3, AMDHD2
+142 more
Duplication
Idiopathic generalized epilepsy
+2 more
GUncertain significance
ABCA3, AMDHD2
+66 more
Copy number gain
not provided
GLikely pathogenic
BAIAP3, C1QTNF8
+52 more
Copy number loss
not provided
GPathogenic
TIGD7, TMEM204
+170 more
Duplication
Idiopathic generalized epilepsy
+3 more
GUncertain significance
ABCA3, AMDHD2
+35 more
Copy number gain
not provided
GUncertain significance
BAIAP3, C1QTNF8
+36 more
Copy number gain
not provided
GUncertain significance
ABCA3, ADCY9
+187 more
Copy number gain
See cases
GPathogenic
ABCA3, AMDHD2
+38 more
Copy number gain
not specified
GUncertain significance
GFER, NDUFB10
+12 more
Deletion
Tuberous sclerosis 2
GPathogenic
ABCA3, AMDHD2
+41 more
Copy number gain
not provided
GUncertain significance
JPT2, KCTD5
+188 more
Copy number gain
not provided
GPathogenic
CCDC78, ANTKMT
+71 more
Duplication
Epilepsy
+2 more
GUncertain significance
GFER, MIR1225
+13 more
Copy number gain
not provided
GUncertain significance
ABCA3, ADCY9
+188 more
Copy number gain
not provided
GPathogenic
EME2, FAHD1
+45 more
Deletion
Tuberous sclerosis 2
GPathogenic
IGFALS, MRPS34
+86 more
Duplication
Idiopathic generalized epilepsy
+1 more
GUncertain significance
CCDC78, CHTF18
+71 more
Deletion
Tuberous sclerosis 2
GPathogenic
MAPK8IP3, MEIOB
+28 more
Deletion
Tuberous sclerosis 2
GPathogenic
CRAMP1, EME2
+28 more
Inversion
Hereditary cancer-predisposing syndrome
GUncertain significance
ANTKMT, ARHGDIG
+89 more
Copy number loss
not provided
GPathogenic
ANTKMT, BAIAP3
+69 more
Deletion
Tuberous sclerosis 2
GPathogenic
ABCA3, ADCY9
+159 more
Copy number gain
Chromosome 16p13.3 duplication syndrome
GPathogenic
BRICD5, CASKIN1
+34 more
Copy number loss
not provided
GPathogenic
ABCA3, ADCY9
+103 more
Copy number gain
not provided
GPathogenic
ABAT, ABCA3
+206 more
Copy number gain
not provided
GPathogenic
ABCA3, AMDHD2
+139 more
Copy number gain
not provided
GPathogenic
ABAT, ABCA3
+198 more
Copy number gain
See cases
GPathogenic
ABAT, ABCA3
+295 more
Copy number gain
See cases
GPathogenic
AARS1, ABAT
+811 more
Copy number gain
See cases
GPathogenic
CCL22, CCNF
+811 more
Copy number gain
See cases
GPathogenic
PRSS27, PRSS33
+263 more
Copy number gain
See cases
GPathogenic
ABCA3, AMDHD2
+111 more
Copy number gain
See cases
GUncertain significance
CLDN6, CLDN9
+196 more
Copy number gain
See cases
GPathogenic
ABCC6, BCL7C
+811 more
Copy number gain
See cases
GPathogenic
ABCA3, ADCY9
+187 more
Copy number gain
See cases
GPathogenic
ALG1, BICDL2
+388 more
Complex
Hemimegalencephaly
GPathogenic
MEIOB, FAHD1
+14 more
Copy number gain
See cases
GUncertain significance
AMDHD2, ANKS3
+202 more
Copy number gain
Breast ductal adenocarcinoma
GUncertain significance
ABAT, ABCA3
+384 more
Copy number gain
Breast ductal adenocarcinoma
GUncertain significance
ABAT, ABCA3
+330 more
Copy number gain
See cases
GPathogenic
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