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Items: 1 to 100 of 130

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
ARHGDIG, AXIN1
+59 more
Copy number loss
See cases
GUncertain significance
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
ARHGDIG, AXIN1
+34 more
Copy number gain
See cases
GPathogenic
ANTKMT, CAPN15
+76 more
Copy number gain
See cases
GUncertain significance
CAPN15, LINC00235
+4 more
Copy number gain
See cases
GBenign/Likely benign
ANTKMT, CAPN15
+47 more
Copy number gain
See cases
GBenign
ANTKMT, CAPN15
+45 more
Copy number gain
See cases
GLikely benign
PRR35
(R3W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRR35
(E4K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRR35
(R17W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRR35
(R19Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRR35
(P21S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRR35
(C76R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRR35
(R77C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRR35
(T82R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRR35
(T82M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRR35
(R92H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRR35
(P98S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRR35
(G99S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRR35
(R106Q)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
PRR35
(P107S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRR35
(A113T)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
PRR35
(A113V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRR35
(G128R)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
PRR35
(P130L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRR35
(R149W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRR35
(G151D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRR35
(V173M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRR35
(A194V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRR35
(G196E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRR35
(P214L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRR35
(Y222C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRR35
(A229T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRR35
(P245L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRR35
(R263C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRR35
(T273I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRR35
(K285E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRR35
(P297L)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
PRR35
(P299L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRR35
(P305A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRR35
(P305L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRR35
(G310E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRR35
(R318K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRR35
(Q322E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRR35
(E327Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRR35
(R335K)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
PRR35
(P347L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRR35
(R355S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRR35
(L362P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRR35
(G375R)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
PRR35
(L391V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRR35
(A416T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRR35
(A428V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRR35
(R437Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRR35
(G441C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRR35
(G441D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRR35
(I450N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRR35
(V458L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRR35
(R471C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRR35
(R471H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRR35
(A483V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRR35
(E488K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRR35
(P491L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRR35
(P506S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRR35
(Q510H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRR35
(S513F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRR35
(P531L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRR35
(L532P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRR35
(A550P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRR35
(A550V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRR35
(T551M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRR35
(T551R)
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
ARHGDIG, AXIN1
+13 more
Deletion
Epilepsy
GPathogenic
ARHGDIG, AXIN1
+12 more
Duplication
Epilepsy
GUncertain significance
ANTKMT, ARHGDIG
+53 more
Copy number loss
not provided
GPathogenic
ABCA3, ADCY9
+187 more
Copy number gain
See cases
GPathogenic
ANTKMT, MRPL28
+58 more
Copy number loss
not specified
GPathogenic
WDR90, WFIKKN1
+34 more
Copy number loss
not specified
GPathogenic
JPT2, KCTD5
+188 more
Copy number gain
not provided
GPathogenic
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