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Items: 95

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
NHLRC4, NME4
+119 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
+130 more
Copy number loss
See cases
GPathogenic
ANTKMT, ARHGDIG
+164 more
Copy number loss
See cases
GPathogenic
ANTKMT, CAPN15
+76 more
Copy number gain
See cases
GUncertain significance
ANTKMT, CAPN15
+47 more
Copy number gain
See cases
GBenign
ANTKMT, CAPN15
+45 more
Copy number gain
See cases
GLikely benign
ANTKMT, CCDC78
+40 more
Copy number gain
See cases
GBenign
ANTKMT, FBXL16
+26 more
Copy number loss
See cases
GBenign
LOC130058119, LOC130058120
+26 more
Copy number gain
See cases
GBenign
ANTKMT, FBXL16
+18 more
Copy number loss
See cases
GBenign
ABAT, ABCA3
+926 more
Copy number gain
See cases
GPathogenic
ANTKMT
(A9V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANTKMT
(L24V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANTKMT
(R63P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANTKMT
(A93V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANTKMT
(R95S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANTKMT
(P100R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANTKMT
(G125C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANTKMT
(Y129C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANTKMT
(R143C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ANTKMT
(P151S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ANTKMT
(P138R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANTKMT
(G151E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANTKMT
(S173C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANTKMT
(P162S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANTKMT
(G189W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANTKMT
(G189E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANTKMT
(A209S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANTKMT
(R195Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANTKMT
(G203R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANTKMT
(P204S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANTKMT
(P204L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANTKMT
(A207S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANTKMT
(P210R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANTKMT
(G229V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANTKMT
(S215C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANTKMT
(S218N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TELO2, STUB1
+53 more
Deletion
not provided
GPathogenic
ANTKMT, AXIN1
+34 more
Duplication
Idiopathic generalized epilepsy
+1 more
GUncertain significance
ABCA3, AMDHD2
+142 more
Duplication
Idiopathic generalized epilepsy
+2 more
GUncertain significance
PRR35, ANTKMT
+65 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
ANTKMT, ARHGDIG
+53 more
Copy number loss
not provided
GPathogenic
ANTKMT, CCDC78
+15 more
Copy number loss
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
CHTF18, CIAO3
+13 more
Deletion
Hyperaldosteronism, familial, type IV
+1 more
GUncertain significance
CCDC78, ANTKMT
+71 more
Duplication
Epilepsy
+2 more
GUncertain significance
ABCA3, ADCY9
+188 more
Copy number gain
not provided
GPathogenic
IGFALS, MRPS34
+86 more
Duplication
Idiopathic generalized epilepsy
+1 more
GUncertain significance
CCDC78, CHTF18
+71 more
Deletion
Tuberous sclerosis 2
GPathogenic
PRR25, LMF1
+33 more
Copy number gain
not provided
GUncertain significance
SNRNP25, C1QTNF8
+48 more
Copy number loss
not provided
GPathogenic
ANTKMT, ARHGDIG
+89 more
Copy number loss
not provided
GPathogenic
ANTKMT, ARHGDIG
+58 more
Copy number loss
not provided
GPathogenic
ANTKMT, ARHGDIG
+40 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
ANTKMT, FBXL16
+8 more
Copy number loss
See cases
GBenign
ABCC6, BCL7C
+811 more
Copy number gain
See cases
GPathogenic
ABCA3, ADCY9
+187 more
Copy number gain
See cases
GPathogenic
STUB1, CIAO3
+32 more
Copy number gain
See cases
GUncertain significance
MSLN, PRR35
+27 more
Copy number gain
See cases
GUncertain significance
CCDC154, CCDC78
+61 more
Copy number loss
See cases
GPathogenic
ANTKMT, ARHGDIG
+66 more
Copy number loss
See cases
GPathogenic
HAGHL, MSLN
+7 more
Copy number gain
Breast ductal adenocarcinoma
GUncertain significance
FBXL16, JMJD8
+7 more
Copy number gain
Breast ductal adenocarcinoma
GUncertain significance
ANTKMT, ARHGDIG
+49 more
Copy number gain
Breast ductal adenocarcinoma
GUncertain significance
ABAT, ABCA3
+330 more
Copy number gain
See cases
GPathogenic
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