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Links from Gene

Items: 95

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MRPL28
(M165L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRPL28
(Y70C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRPL28
(T207M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRPL28
(R171W)
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
MRPL28
(E209A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRPL28
(E179K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRPL28
(R168Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRPL28
(R163Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRPL28
(M129T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRPL28
(Q108R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRPL28
(V8L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRPL28
(Q76H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRPL28
(E63K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGDIG, AXIN1
+18 more
Copy number loss
not provided
GUncertain significance
PRR35, ANTKMT
+65 more
Copy number loss
not provided
GPathogenic
MRPL28
(R168W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRPL28
(N53T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRPL28
(P38S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRPL28
(I229M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRPL28
(W9R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRPL28
(N94H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
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
MRPL28
(N53K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRPL28
(G88S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRPL28
(K156Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRPL28
(R183W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRPL28
(F227L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRPL28
(P72S)
Single nucleotide variant
(missense variant)
not specified
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
MRPL28, FAM234A
+9 more
Copy number gain
not provided
GUncertain significance
ABCA3, ADCY9
+188 more
Copy number gain
not provided
GPathogenic
PRR25, LMF1
+33 more
Copy number gain
not provided
GUncertain significance
NME4, CAPN15
+14 more
Copy number gain
not provided
GUncertain significance
PRR35, AXIN1
+32 more
Copy number gain
not provided
GUncertain significance
SNRNP25, C1QTNF8
+48 more
Copy number loss
not provided
GPathogenic
MRPL28
Single nucleotide variant
(synonymous variant)
not provided
GBenign
AXIN1, DECR2
+4 more
Copy number loss
not provided
GUncertain significance
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
ABCA3, ADCY9
+159 more
Copy number gain
Chromosome 16p13.3 duplication syndrome
GPathogenic
PGAP6, PDIA2
+10 more
Copy number loss
not provided
GUncertain significance
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
ARHGDIG, AXIN1
+19 more
Copy number gain
See cases
GUncertain significance
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
ARHGDIG, AXIN1
+32 more
Copy number gain
See cases
GUncertain significance
HBA1, HBA2
+24 more
Copy number loss
See cases
GPathogenic
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
MRPL28
(R59P)
Single nucleotide variant
(missense variant)
Oromandibular-limb hypogenesis spectrum
GLikely benign
MRPL28
(V204M)
Single nucleotide variant
(missense variant)
Oromandibular-limb hypogenesis spectrum
GLikely benign
STUB1, CIAO3
+32 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
PRR35, AXIN1
+16 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
ARHGDIG, AXIN1
+59 more
Copy number loss
See cases
GUncertain significance
ANTKMT, ARHGDIG
+130 more
Copy number loss
See cases
GPathogenic
EEF2KMT, ELOB
+917 more
Copy number gain
See cases
GPathogenic
NHLRC4, NME4
+119 more
Copy number loss
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
AXIN1, LOC100134368
+11 more
Copy number gain
See cases
GBenign
AXIN1, LOC100134368
+11 more
Copy number gain
See cases
GBenign
ABAT, ABCA3
+843 more
Copy number gain
See cases
GPathogenic
ANTKMT, ARHGDIG
+164 more
Copy number loss
See cases
GPathogenic
ANTKMT, ARHGDIG
+253 more
Copy number loss
See cases
GPathogenic
ANTKMT, ARHGDIG
+194 more
Copy number loss
See cases
GPathogenic
ANTKMT, ARHGDIG
+210 more
Copy number loss
See cases
GPathogenic
ARHGDIG, AXIN1
+34 more
Copy number gain
See cases
GPathogenic
ARHGDIG, ATP6V0C
+482 more
Copy number gain
See cases
GPathogenic
ABCA3, AMDHD2
+356 more
Copy number gain
See cases
GPathogenic
ABAT, ABCA3
+822 more
Copy number gain
See cases
GPathogenic
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