"Centre for Mendelian Genomics, University Medical Centre Ljubljana"[s - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 932041	NM_005045.4(RELN):c.10280+7A>G	RELN, SLC26A5-AS1	Single nucleotide variant (intron variant)	Familial temporal lobe epilepsy 7 +1 more	GConflicting classifications of pathogenicity
Select item 197969	NM_005045.4(RELN):c.8843+3A>C	RELN, SLC26A5-AS1	Single nucleotide variant (intron variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 475991	NM_005045.4(RELN):c.8195G>T (p.Cys2732Phe)	RELN, SLC26A5-AS1 (C2732F)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7 +1 more	GUncertain significance
Select item 932028	NM_005045.4(RELN):c.7267C>T (p.Arg2423Cys)	RELN (R2423C)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7 +1 more	GUncertain significance
Select item 852456	NM_005045.4(RELN):c.6146C>T (p.Ala2049Val)	RELN (A2049V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 931030	NM_005045.4(RELN):c.5662G>A (p.Gly1888Arg)	RELN (G1888R)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7	GUncertain significance
Select item 852234	NM_005045.4(RELN):c.5480A>G (p.Asn1827Ser)	RELN (N1827S)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +1 more	GUncertain significance
Select item 930436	NM_005045.4(RELN):c.3463dup (p.Leu1155fs)	RELN (L1155fs)	Duplication (frameshift variant)	Familial temporal lobe epilepsy 7	GLikely pathogenic
Select item 931042	NM_005045.4(RELN):c.3147-9C>G	RELN	Single nucleotide variant (intron variant)	Familial temporal lobe epilepsy 7	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 931089	NM_005045.4(RELN):c.2002+10T>C	RELN	Single nucleotide variant (intron variant)	Familial temporal lobe epilepsy 7 +1 more	GConflicting classifications of pathogenicity