"Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, E - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 358377	NM_005045.4(RELN):c.10182-11G>A	RELN, SLC26A5-AS1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 95209	NM_005045.4(RELN):c.10074A>G (p.Ala3358=)	RELN, SLC26A5-AS1	Single nucleotide variant (synonymous variant)	Familial temporal lobe epilepsy 7 +3 more	GBenign
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 130147	NM_005045.4(RELN):c.9903C>T (p.Tyr3301=)	RELN, SLC26A5-AS1	Single nucleotide variant (synonymous variant)	Norman-Roberts syndrome +3 more	GBenign
Select item 130145	NM_005045.4(RELN):c.9714C>T (p.His3238=)	SLC26A5-AS1, LOC126860130 +1 more	Single nucleotide variant (synonymous variant)	Norman-Roberts syndrome +2 more	GBenign
Select item 358381	NM_005045.4(RELN):c.9524A>C (p.His3175Pro)	LOC126860130, RELN +1 more (H3175P)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +4 more	GBenign/Likely benign
Select item 518380	NM_005045.4(RELN):c.8950+16G>A	RELN, SLC26A5-AS1	Single nucleotide variant (intron variant)	Norman-Roberts syndrome +2 more	GBenign
Select item 130144	NM_005045.4(RELN):c.8798C>T (p.Thr2933Ile)	RELN, SLC26A5-AS1 (T2933I)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +2 more	GConflicting classifications of pathogenicity
Select item 95233	NM_005045.4(RELN):c.8508C>T (p.Phe2836=)	RELN, SLC26A5-AS1	Single nucleotide variant (synonymous variant)	Norman-Roberts syndrome +3 more	GBenign/Likely benign
Select item 1001230	NM_005045.4(RELN):c.8174C>T (p.Ser2725Phe)	RELN, SLC26A5-AS1 (S2725F)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7 +1 more	GLikely benign
Select item 95231	NM_005045.4(RELN):c.8136A>G (p.Leu2712=)	RELN, SLC26A5-AS1	Single nucleotide variant (synonymous variant)	Familial temporal lobe epilepsy 7 +2 more	GBenign
Select item 130142	NM_005045.4(RELN):c.7887T>C (p.Pro2629=)	RELN	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 130141	NM_005045.4(RELN):c.7530C>T (p.Pro2510=)	RELN	Single nucleotide variant (synonymous variant)	Norman-Roberts syndrome +2 more	GBenign
Select item 95228	NM_005045.4(RELN):c.7110T>C (p.Val2370=)	RELN	Single nucleotide variant (synonymous variant)	Norman-Roberts syndrome +3 more	GBenign
Select item 130138	NM_005045.4(RELN):c.7086C>T (p.Thr2362=)	RELN	Single nucleotide variant (synonymous variant)	Norman-Roberts syndrome +2 more	GBenign/Likely benign
Select item 212044	NM_005045.4(RELN):c.6939T>C (p.Ile2313=)	RELN	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 95227	NM_005045.4(RELN):c.6702T>C (p.Cys2234=)	RELN	Single nucleotide variant (synonymous variant)	Norman-Roberts syndrome +3 more	GBenign
Select item 358389	NM_005045.4(RELN):c.6672-15G>A	RELN	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 130134	NM_005045.4(RELN):c.6671+8T>C	RELN	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 95225	NM_005045.4(RELN):c.6084C>T (p.Gly2028=)	RELN	Single nucleotide variant (synonymous variant)	Norman-Roberts syndrome +4 more	GBenign/Likely benign
Select item 130129	NM_005045.4(RELN):c.5775A>G (p.Arg1925=)	RELN	Single nucleotide variant (synonymous variant)	Norman-Roberts syndrome +4 more	GBenign
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 130128	NM_005045.4(RELN):c.5351+3A>G	RELN	Single nucleotide variant (intron variant)	Norman-Roberts syndrome +3 more	GBenign
Select item 167583	NM_005045.4(RELN):c.5274G>T (p.Ala1758=)	RELN	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 358395	NM_005045.4(RELN):c.5211-8_5211-7dup	RELN	Duplication (intron variant)	Lissencephaly, Recessive	GUncertain significance
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 282752	NM_005045.4(RELN):c.5211-9_5211-7del	RELN	Deletion (intron variant)	not specified +1 more	GBenign
Select item 580382	NM_005045.4(RELN):c.5194C>T (p.Leu1732Phe)	RELN (L1732F)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7 +2 more	GUncertain significance
Select item 130125	NM_005045.4(RELN):c.5108C>G (p.Pro1703Arg)	RELN (P1703R)	Single nucleotide variant (missense variant)	not specified +3 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 358398	NM_005045.4(RELN):c.4937-4dup	RELN	Duplication (intron variant)	Lissencephaly, Recessive +2 more	GBenign
Select item 358400	NM_005045.4(RELN):c.4748-11T>C	RELN	Single nucleotide variant (intron variant)	Epilepsy, familial temporal lobe, 1 +4 more	GBenign/Likely benign
Select item 138910	NM_005045.4(RELN):c.4588+14T>C	RELN	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 95219	NM_005045.4(RELN):c.3839G>A (p.Gly1280Glu)	RELN (G1280E)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 358407	NM_005045.4(RELN):c.3424T>A (p.Ser1142Thr)	RELN (S1142T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 195757	NM_005045.4(RELN):c.3123C>T (p.Gly1041=)	RELN	Single nucleotide variant (synonymous variant)	Epilepsy, familial temporal lobe, 1 +5 more	GBenign/Likely benign
Select item 130119	NM_005045.4(RELN):c.2989C>G (p.Leu997Val)	RELN (L997V)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +3 more	GBenign
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 130116	NM_005045.4(RELN):c.1888A>C (p.Ser630Arg)	RELN (S630R)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +3 more	GBenign
Select item 381003	NM_005045.4(RELN):c.1824C>T (p.Cys608=)	RELN	Single nucleotide variant (synonymous variant)	Norman-Roberts syndrome +2 more	GBenign
Select item 130115	NM_005045.4(RELN):c.1776A>G (p.Glu592=)	RELN	Single nucleotide variant (synonymous variant)	Norman-Roberts syndrome +2 more	GBenign
Select item 95212	NM_005045.4(RELN):c.1596G>A (p.Gln532=)	RELN	Single nucleotide variant (synonymous variant)	Familial temporal lobe epilepsy 7 +2 more	GBenign
Select item 95210	NM_005045.4(RELN):c.1290-3dup	LOC126860131, RELN	Duplication (intron variant)	Lissencephaly, Recessive +3 more	GBenign/Likely benign
Select item 193677	NM_005045.4(RELN):c.906C>T (p.Ala302=)	RELN	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 393143	NM_005045.4(RELN):c.877G>A (p.Asp293Asn)	RELN (D293N)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +5 more	GConflicting classifications of pathogenicity
Select item 358417	NM_005045.4(RELN):c.621C>T (p.Asp207=)	RELN	Single nucleotide variant (synonymous variant)	Norman-Roberts syndrome +3 more	GBenign
Select item 95224	NM_005045.4(RELN):c.578-3T>C	RELN	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 95221	NM_005045.4(RELN):c.474-7T>C	RELN	Single nucleotide variant (intron variant)	Norman-Roberts syndrome +3 more	GConflicting classifications of pathogenicity
Select item 358425	NM_005045.4(RELN):c.-24GGC[13] (p.Met1_Glu2insGlyGlyGlyGlyGly)	RELN	Microsatellite (inframe_insertion)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 358424	NM_005045.4(RELN):c.-24GGC[12] (p.Met1_Glu2insGlyGlyGlyGly)	RELN	Microsatellite (inframe_insertion)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 193298	NM_005045.4(RELN):c.-24GGC[11] (p.Met1_Glu2insGlyGlyGly)	RELN	Microsatellite (inframe_insertion)	not provided +1 more	GBenign/Likely benign

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Items: 53