"GeneReviews"[submitter] AND "RELN"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 199435	NM_005045.4(RELN):c.9526G>A (p.Glu3176Lys)	LOC126860130, RELN +1 more (E3176K)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7	GPathogenic
Select item 199433	NM_005045.4(RELN):c.8347G>T (p.Gly2783Cys)	RELN, SLC26A5-AS1 (G2783C)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7	GPathogenic
Select item 208483	NM_005045.4(RELN):c.2531C>T (p.Pro844Leu)	RELN (P844L)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +1 more	GUncertain significance
Select item 199432	NM_005045.4(RELN):c.2392C>A (p.His798Asn)	RELN (H798N)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7	GPathogenic
Select item 199434	NM_005045.4(RELN):c.2288A>G (p.Asp763Gly)	RELN (D763G)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7	GPathogenic
Select item 208482	NM_005045.4(RELN):c.2168A>G (p.Tyr723Cys)	RELN (Y723C)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +1 more	GUncertain significance
Select item 208481	NM_005045.4(RELN):c.2015C>T (p.Pro672Leu)	RELN (P672L)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +3 more	GConflicting classifications of pathogenicity
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic

ClinVar