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Items: 70

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
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
NPW
(L21R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NPW
(L66R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NPW
(R67S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NPW
(P72S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NPW
(S79F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NPW
(E81K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NPW
(P82T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NPW
(Q107H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC125146377, NPW
(R145G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC125146377, NPW
(V148A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC125146377, NPW
(R154C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC125146377, NPW
(P158H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC125146377, NPW
(G163V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
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
MIR1225, NHERF2
+7 more
Deletion
Tuberous sclerosis 2
GPathogenic
ABCA3, AMDHD2
+35 more
Copy number gain
not provided
GUncertain significance
GFER, MIR1225
+9 more
Copy number loss
not provided
GPathogenic
BRICD5, CASKIN1
+15 more
Copy number loss
not provided
GPathogenic
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
GFER, NHERF2
+5 more
Deletion
not provided
GPathogenic
SYNGR3, GFER
+5 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, 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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