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Items: 81

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
ANTKMT, ARHGDIG
+224 more
Copy number loss
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
MAPK8IP3, MAPK8IP3-AS1
+88 more
Copy number gain
See cases
GPathogenic
EME2, HAGH
+19 more
Copy number loss
See cases
GBenign
HAGH
(R259Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
HAGH
(A236T +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
HAGH
(T214A +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
HAGH
(G207R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
HAGH
(Y252N +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FAHD1, GFER
+40 more
Copy number gain
See cases
GPathogenic
HAGH
(R242W +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
HAGH
(M202V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HAGH
(V234M +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
HAGH
(A196T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HAGH
(C171R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
HAGH
(A139V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
HAGH
(P156Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
HAGH
(P108S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
HAGH
(V102I +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
HAGH
(Q96P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HAGH
(I89V +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
HAGH
(G92R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HAGH
(A39T +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
HAGH
(D20H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HAGH
(E46K)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
HAGH
(V44M)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
HAGH
(K40R)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
HAGH
(L30V)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
HAGH, LOC130058193
(A15V)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
HAGH, LOC130058193
(S12R)
Single nucleotide variant
(5 prime UTR variant +1 more)
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
CLCN7, CRAMP1
+15 more
Copy number gain
not provided
GUncertain significance
ABCA3, AMDHD2
+66 more
Copy number gain
not provided
GLikely pathogenic
BAIAP3, C1QTNF8
+52 more
Copy number loss
not provided
GPathogenic
C1QTNF8, CACNA1H
+67 more
Deletion
not provided
GUncertain significance
TIGD7, TMEM204
+170 more
Duplication
Idiopathic generalized epilepsy
+3 more
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
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
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
CRAMP1, EME2
+10 more
Copy number gain
not provided
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
PDIA2, POLR3K
+75 more
Copy number loss
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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