"Athena Diagnostics"[submitter] AND "RELN"[gene] - ClinVar

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Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 433104	NM_005045.4(RELN):c.10093G>A (p.Val3365Ile)	RELN, SLC26A5-AS1 (V3365I)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 167574	NM_005045.4(RELN):c.10016T>C (p.Met3339Thr)	RELN, SLC26A5-AS1 (M3339T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 130146	NM_005045.4(RELN):c.9730G>A (p.Gly3244Ser)	LOC126860130, RELN +1 more (G3244S)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +4 more	GBenign/Likely benign
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 95234	NM_005045.4(RELN):c.8843+7G>C	RELN, SLC26A5-AS1	Single nucleotide variant (intron variant)	Familial temporal lobe epilepsy 7 +3 more	GBenign
Select item 95233	NM_005045.4(RELN):c.8508C>T (p.Phe2836=)	RELN, SLC26A5-AS1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 448167	NM_005045.4(RELN):c.8158G>A (p.Glu2720Lys)	RELN, SLC26A5-AS1 (E2720K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 448166	NM_005045.4(RELN):c.8154A>T (p.Thr2718=)	RELN, SLC26A5-AS1	Single nucleotide variant (synonymous variant)	Norman-Roberts syndrome +2 more	GConflicting classifications of pathogenicity
Select item 95230	NM_005045.4(RELN):c.8046T>C (p.His2682=)	RELN	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 582153	NM_005045.4(RELN):c.7897G>A (p.Glu2633Lys)	RELN (E2633K)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 130142	NM_005045.4(RELN):c.7887T>C (p.Pro2629=)	RELN	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
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 212046	NM_005045.4(RELN):c.7538C>G (p.Ser2513Cys)	RELN (S2513C)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 95229	NM_005045.4(RELN):c.7438G>A (p.Gly2480Ser)	RELN (G2480S)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 95228	NM_005045.4(RELN):c.7110T>C (p.Val2370=)	RELN	Single nucleotide variant (synonymous variant)	Familial temporal lobe epilepsy 7 +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 448165	NM_005045.4(RELN):c.6854G>T (p.Arg2285Leu)	RELN (R2285L)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +2 more	GUncertain significance
Select item 130135	NM_005045.4(RELN):c.6726G>C (p.Arg2242Ser)	RELN (R2242S)	Single nucleotide variant (missense 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)	not specified +3 more	GBenign
Select item 130134	NM_005045.4(RELN):c.6671+8T>C	RELN	Single nucleotide variant (intron variant)	Norman-Roberts syndrome +2 more	GBenign/Likely benign
Select item 586404	NM_005045.4(RELN):c.6632G>A (p.Arg2211His)	RELN (R2211H)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 586403	NM_005045.4(RELN):c.6385G>A (p.Gly2129Ser)	RELN (G2129S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 130133	NM_005045.4(RELN):c.6343G>A (p.Gly2115Ser)	RELN (G2115S)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 197439	NM_005045.4(RELN):c.6141C>T (p.Phe2047=)	RELN	Single nucleotide variant (synonymous variant)	Familial temporal lobe epilepsy 7 +3 more	GConflicting classifications of pathogenicity
Select item 95225	NM_005045.4(RELN):c.6084C>T (p.Gly2028=)	RELN	Single nucleotide variant (synonymous variant)	Epilepsy, familial temporal lobe, 1 +4 more	GBenign/Likely benign
Select item 212043	NM_005045.4(RELN):c.6078C>T (p.Asn2026=)	RELN	Single nucleotide variant (synonymous variant)	Norman-Roberts syndrome +3 more	GBenign
Select item 287985	NM_005045.4(RELN):c.5961G>T (p.Lys1987Asn)	RELN (K1987N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 448164	NM_005045.4(RELN):c.5880A>G (p.Thr1960=)	RELN	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 281632	NM_005045.4(RELN):c.5822T>C (p.Val1941Ala)	RELN (V1941A)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 130129	NM_005045.4(RELN):c.5775A>G (p.Arg1925=)	RELN	Single nucleotide variant (synonymous variant)	Norman-Roberts syndrome +3 more	GBenign
Select item 95222	NM_005045.4(RELN):c.5643G>A (p.Leu1881=)	RELN	Single nucleotide variant (synonymous variant)	Norman-Roberts syndrome +2 more	GConflicting classifications of pathogenicity
Select item 167582	NM_005045.4(RELN):c.5618C>T (p.Thr1873Ile)	RELN (T1873I)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 130127	NM_005045.4(RELN):c.5284G>A (p.Val1762Ile)	RELN (V1762I)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7 +4 more	GBenign/Likely benign
Select item 196901	NM_005045.4(RELN):c.5200C>G (p.Leu1734Val)	RELN (L1734V)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 130126	NM_005045.4(RELN):c.5156C>T (p.Ser1719Leu)	RELN (S1719L)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +3 more	GConflicting classifications of pathogenicity
Select item 130125	NM_005045.4(RELN):c.5108C>G (p.Pro1703Arg)	RELN (P1703R)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2684321	NM_005045.4(RELN):c.5021A>G (p.Lys1674Arg)	RELN (K1674R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 475965	NM_005045.4(RELN):c.4720G>A (p.Ala1574Thr)	RELN (A1574T)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +2 more	GConflicting classifications of pathogenicity
Select item 95219	NM_005045.4(RELN):c.3839G>A (p.Gly1280Glu)	RELN (G1280E)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +3 more	GBenign/Likely benign
Select item 95218	NM_005045.4(RELN):c.3651C>G (p.Ile1217Met)	RELN (I1217M)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +3 more	GConflicting classifications of pathogenicity
Select item 281243	NM_005045.4(RELN):c.3477C>A (p.Asn1159Lys)	RELN (N1159K)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +3 more	GBenign/Likely benign
Select item 287091	NM_005045.4(RELN):c.3411C>T (p.Gly1137=)	RELN	Single nucleotide variant (synonymous variant)	Familial temporal lobe epilepsy 7 +3 more	GConflicting classifications of pathogenicity
Select item 586402	NM_005045.4(RELN):c.3287A>G (p.Gln1096Arg)	RELN (Q1096R)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 498083	NM_005045.4(RELN):c.3147-4A>G	RELN	Single nucleotide variant (intron variant)	Norman-Roberts syndrome +2 more	GConflicting classifications of pathogenicity
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 649418	NM_005045.4(RELN):c.2938G>C (p.Ala980Pro)	RELN (A980P)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 542598	NM_005045.4(RELN):c.2827C>T (p.His943Tyr)	RELN (H943Y)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 448162	NM_005045.4(RELN):c.2532G>A (p.Pro844=)	RELN	Single nucleotide variant (synonymous variant)	Norman-Roberts syndrome +2 more	GLikely benign
Select item 195496	NM_005045.4(RELN):c.2466-7dup	RELN	Duplication (intron variant)	Norman-Roberts syndrome +2 more	GBenign
Select item 586401	NM_005045.4(RELN):c.2466-7del	RELN	Deletion (intron variant)	not provided +2 more	GBenign
Select item 805269	NM_005045.4(RELN):c.2095G>A (p.Ala699Thr)	RELN (A699T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 130116	NM_005045.4(RELN):c.1888A>C (p.Ser630Arg)	RELN (S630R)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 95213	NM_005045.4(RELN):c.1799C>T (p.Ser600Phe)	RELN (S600F)	Single nucleotide variant (missense variant)	Epilepsy, familial temporal lobe, 1 +4 more	GBenign/Likely benign
Select item 130114	NM_005045.4(RELN):c.1377G>A (p.Arg459=)	LOC126860131, RELN	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 995223	NM_005045.4(RELN):c.1361T>C (p.Leu454Pro)	LOC126860131, RELN (L454P)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +2 more	GUncertain significance
Select item 358414	NM_005045.4(RELN):c.1344C>G (p.Gly448=)	LOC126860131, RELN	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 542574	NM_005045.4(RELN):c.1336G>C (p.Glu446Gln)	LOC126860131, RELN (E446Q)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 911553	NM_005045.4(RELN):c.1197C>T (p.Ser399=)	RELN	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 515277	NM_005045.4(RELN):c.1092C>T (p.Leu364=)	RELN	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 212028	NM_005045.4(RELN):c.1075G>A (p.Val359Ile)	RELN (V359I)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 95224	NM_005045.4(RELN):c.578-3T>C	RELN	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 287402	NM_005045.4(RELN):c.565C>T (p.His189Tyr)	RELN (H189Y)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7 +3 more	GBenign
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
Select item 95211	NM_005045.4(RELN):c.139G>A (p.Glu47Lys)	RELN (E47K)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +4 more	GConflicting classifications of pathogenicity
Select item 193299	NM_005045.4(RELN):c.77C>T (p.Ala26Val)	RELN (A26V)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7 +3 more	GConflicting classifications of pathogenicity
Select item 358423	NM_005045.4(RELN):c.-24GGC[9] (p.Met1_Glu2insGly)	RELN	Microsatellite (inframe_insertion)	not provided +1 more	GConflicting classifications of pathogenicity

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Items: 66