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Items: 91

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ANTKMT, ARHGDIG
+194 more
Copy number loss
See cases
GPathogenic
ANTKMT, ARHGDIG
+210 more
Copy number loss
See cases
GPathogenic
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
ANTKMT, ARHGDIG
+179 more
Copy number loss
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
ANTKMT, ARHGDIG
+164 more
Copy number loss
See cases
GPathogenic
ABAT, ABCA3
+926 more
Copy number gain
See cases
GPathogenic
BAIAP3, BRICD5
+162 more
Copy number gain
See cases
GPathogenic
BAIAP3, CCDC154
+32 more
Copy number loss
See cases
GBenign
MAPK8IP3, MAPK8IP3-AS1
+88 more
Copy number gain
See cases
GPathogenic
TSR3
(R309W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TSR3
(K308T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TSR3
(E301D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TSR3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TSR3
(R292Q)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
TSR3
(R292P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TSR3
(G278E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TSR3
(R276H)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
TSR3
(A266V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TSR3
(V239L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TSR3
(S228R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TSR3
(G209D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TSR3
(A206V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TSR3
(A206P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TSR3
(R199C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TSR3
(R186W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TSR3
(Y160D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TSR3
(P159S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TSR3
(R158W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TSR3
(Y156H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TSR3
(H141Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TSR3
(F134S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TSR3
(D130E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TSR3
(Q116P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TSR3
(Q112P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC130058158, TSR3
(A54T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC130058158, TSR3
(R16C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC130058158, TSR3
(G14S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC130058158, TSR3
(G9A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC130058158, TSR3
(R3S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC130058158, TSR3
+1 more
Single nucleotide variant
(5 prime UTR variant)
not provided
GBenign
GNPTG, TSR3
Deletion
not provided
GPathogenic
BAIAP3, GNPTG
+1 more
Deletion
not provided
GPathogenic
TELO2, STUB1
+53 more
Deletion
not provided
GPathogenic
ABCA3, AMDHD2
+142 more
Duplication
Idiopathic generalized epilepsy
+2 more
GUncertain significance
PRR35, ANTKMT
+65 more
Copy number loss
not provided
GPathogenic
ABCA3, AMDHD2
+66 more
Copy number gain
not provided
GLikely pathogenic
BAIAP3, C1QTNF8
+52 more
Copy number loss
not provided
GPathogenic
ANTKMT, ARHGDIG
+64 more
Deletion
Hyperaldosteronism, familial, type IV
+1 more
GUncertain significance
C1QTNF8, CACNA1H
+67 more
Deletion
not provided
GUncertain significance
ANTKMT, ARHGDIG
+55 more
Deletion
not provided
GPathogenic
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
ANTKMT, MRPL28
+58 more
Copy number loss
not specified
GPathogenic
JPT2, KCTD5
+188 more
Copy number gain
not provided
GPathogenic
CCDC78, ANTKMT
+71 more
Duplication
Epilepsy
+2 more
GUncertain significance
TPSG1, BAIAP3
+11 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
ANTKMT, ARHGDIG
+89 more
Copy number loss
not provided
GPathogenic
ANTKMT, ARHGDIG
+58 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
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
PGAP6, TSR3
+61 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
CCDC154, CCDC78
+61 more
Copy number loss
See cases
GPathogenic
ANTKMT, ARHGDIG
+66 more
Copy number loss
See cases
GPathogenic
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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