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Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NME4
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
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
ANTKMT, ARHGDIG
+64 more
Deletion
Hyperaldosteronism, familial, type IV
+1 more
GUncertain significance
C1QTNF8, CACNA1H
+67 more
Deletion
not provided
GUncertain significance
MRPL28, MSLN
+55 more
Deletion
not provided
GPathogenic
ABCA3, ADCY9
+170 more
Duplication
Hyperaldosteronism, familial, type IV
+3 more
GUncertain significance
ARHGDIG, AXIN1
+13 more
Deletion
Epilepsy
GPathogenic
ARHGDIG, AXIN1
+12 more
Duplication
Epilepsy
GUncertain significance
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