"Genome Diagnostics Laboratory, University Medical Center Utrecht"[sub - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1285141	NM_005045.4(RELN):c.9933C>T (p.Gly3311=)	RELN, SLC26A5-AS1	Single nucleotide variant (synonymous variant)	Norman-Roberts syndrome +1 more	GLikely benign
Select item 167582	NM_005045.4(RELN):c.5618C>T (p.Thr1873Ile)	RELN (T1873I)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 1284273	NM_005045.4(RELN):c.5530-18A>G	RELN	Single nucleotide variant (intron variant)	Epilepsy, familial temporal lobe, 1 +2 more	GLikely benign
Select item 167583	NM_005045.4(RELN):c.5274G>T (p.Ala1758=)	RELN	Single nucleotide variant (synonymous variant)	Norman-Roberts syndrome +2 more	GConflicting classifications of pathogenicity
Select item 281452	NM_005045.4(RELN):c.5211-7dup	RELN	Duplication (intron variant)	Lissencephaly, Recessive +2 more	GConflicting classifications of pathogenicity
Select item 1206365	NM_005045.4(RELN):c.5211-8_5211-7del	RELN	Deletion (intron variant)	not provided	GBenign
Select item 1206020	NM_005045.4(RELN):c.5211-7del	RELN	Deletion (intron variant)	Epilepsy, familial temporal lobe, 1 +3 more	GBenign
Select item 130126	NM_005045.4(RELN):c.5156C>T (p.Ser1719Leu)	RELN (S1719L)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 1299804	NM_005045.4(RELN):c.5100G>A (p.Glu1700=)	RELN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 358400	NM_005045.4(RELN):c.4748-11T>C	RELN	Single nucleotide variant (intron variant)	Familial temporal lobe epilepsy 7 +4 more	GBenign/Likely benign
Select item 167585	NM_005045.4(RELN):c.4408G>A (p.Val1470Ile)	RELN (V1470I)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 358407	NM_005045.4(RELN):c.3424T>A (p.Ser1142Thr)	RELN (S1142T)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7 +2 more	GConflicting classifications of pathogenicity
Select item 195757	NM_005045.4(RELN):c.3123C>T (p.Gly1041=)	RELN	Single nucleotide variant (synonymous variant)	Norman-Roberts syndrome +5 more	GBenign/Likely benign
Select item 130118	NM_005045.4(RELN):c.2932A>G (p.Thr978Ala)	RELN (T978A)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +3 more	GBenign
Select item 95215	NM_005045.4(RELN):c.2376T>C (p.Gly792=)	RELN	Single nucleotide variant (synonymous variant)	Familial temporal lobe epilepsy 7 +3 more	GConflicting classifications of pathogenicity
Select item 193677	NM_005045.4(RELN):c.906C>T (p.Ala302=)	RELN	Single nucleotide variant (synonymous variant)	RELN-related disorder +3 more	GBenign/Likely benign
Select item 95221	NM_005045.4(RELN):c.474-7T>C	RELN	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity