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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RELN, SLC26A5-AS1
(Q3431* +1 more)
Single nucleotide variant
(nonsense)
Norman-Roberts syndrome
GLikely pathogenic
RELN, SLC26A5-AS1
(S3389fs)
Deletion
(frameshift variant)
Norman-Roberts syndrome
GLikely pathogenic
LOC126860130, RELN
+1 more
(G3212R)
Single nucleotide variant
(missense variant)
Familial temporal lobe epilepsy 7
GUncertain significance
RELN, SLC26A5-AS1
(C2860G)
Single nucleotide variant
(missense variant)
Familial temporal lobe epilepsy 7
+1 more
GUncertain significance
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