"Baylor Genetics"[submitter] AND "RELN"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3238848	NM_005045.4(RELN):c.10297C>T (p.Gln3433Ter)	RELN, SLC26A5-AS1 (Q3431* +1 more)	Single nucleotide variant (nonsense)	Norman-Roberts syndrome	GLikely pathogenic
Select item 3238807	NM_005045.4(RELN):c.10166_10167del (p.Ser3389fs)	RELN, SLC26A5-AS1 (S3389fs)	Deletion (frameshift variant)	Norman-Roberts syndrome	GLikely pathogenic
Select item 1028331	NM_005045.4(RELN):c.9634G>A (p.Gly3212Arg)	LOC126860130, RELN +1 more (G3212R)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7	GUncertain significance
Select item 1034151	NM_005045.4(RELN):c.8578T>G (p.Cys2860Gly)	RELN, SLC26A5-AS1 (C2860G)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7 +1 more	GUncertain significance
Select item 287125	NM_005045.4(RELN):c.7634C>T (p.Ala2545Val)	RELN (A2545V)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7 +4 more	GConflicting classifications of pathogenicity
Select item 475983	NM_005045.4(RELN):c.7147G>A (p.Ala2383Thr)	RELN (A2383T)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1032971	NM_005045.4(RELN):c.4918A>G (p.Ile1640Val)	RELN (I1640V)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +1 more	GConflicting classifications of pathogenicity
Select item 967859	NM_005045.4(RELN):c.3191C>G (p.Ala1064Gly)	RELN (A1064G)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1032970	NM_005045.4(RELN):c.2728T>C (p.Ser910Pro)	RELN (S910P)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome	GUncertain significance
Select item 1032969	NM_005045.4(RELN):c.2465+5G>T	RELN	Single nucleotide variant (intron variant)	Norman-Roberts syndrome +1 more	GUncertain significance
Select item 1028330	NM_005045.4(RELN):c.1132G>A (p.Ala378Thr)	RELN (A378T)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome	GUncertain significance
Select item 497992	NM_005045.4(RELN):c.577+7G>T	RELN	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1469035	NM_005045.4(RELN):c.445C>T (p.Pro149Ser)	RELN (P149S)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7 +1 more	GUncertain significance
Select item 1034150	NM_005045.4(RELN):c.74C>T (p.Ala25Val)	RELN (A25V)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +1 more	GUncertain significance