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Links from Gene

Items: 67

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
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
NHLRC4
(V27M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NHLRC4
(L119F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRR35, ANTKMT
+65 more
Copy number loss
not provided
GPathogenic
NHLRC4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NHLRC4
(R77Q)
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
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
ABCA3, ADCY9
+188 more
Copy number gain
not provided
GPathogenic
PRR25, LMF1
+33 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
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
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
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
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
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
ANTKMT, CAPN15
+47 more
Copy number gain
See cases
GBenign
ANTKMT, CAPN15
+76 more
Copy number gain
See cases
GUncertain significance
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, CAPN15
+45 more
Copy number gain
See cases
GLikely benign
ANTKMT, ARHGDIG
+179 more
Copy number loss
See cases
GPathogenic
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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