C0796089[trait identifier] AND "Labcorp Genetics (formerly Invitae), L - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2924803	NM_005045.4(RELN):c.10381T>C (p.Ter3461Arg)	RELN, SLC26A5-AS1	Single nucleotide variant (stop lost)	Familial temporal lobe epilepsy 7 +1 more	GUncertain significance
Select item 1014284	NM_005045.4(RELN):c.10373G>A (p.Arg3458Gln)	RELN, SLC26A5-AS1 (R3456Q +1 more)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +1 more	GUncertain significance
Select item 843393	NM_005045.4(RELN):c.10372C>T (p.Arg3458Ter)	RELN, SLC26A5-AS1 (R3456* +1 more)	Single nucleotide variant (nonsense)	Norman-Roberts syndrome +1 more	GUncertain significance
Select item 1156070	NM_005045.4(RELN):c.10368T>C (p.Leu3456=)	RELN, SLC26A5-AS1	Single nucleotide variant (synonymous variant)	Norman-Roberts syndrome +1 more	GLikely benign
Select item 838111	NM_005045.4(RELN):c.10358G>A (p.Arg3453Gln)	RELN, SLC26A5-AS1 (R3453Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 574190	NM_005045.4(RELN):c.10357C>T (p.Arg3453Ter)	RELN, SLC26A5-AS1 (R3453* +1 more)	Single nucleotide variant (nonsense)	Norman-Roberts syndrome +2 more	GConflicting classifications of pathogenicity
Select item 432578	NM_005045.4(RELN):c.10355G>A (p.Arg3452Lys)	RELN, SLC26A5-AS1 (R3452K +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1467018	NM_005045.4(RELN):c.10352G>T (p.Arg3451Ile)	RELN, SLC26A5-AS1 (R3451I +1 more)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +1 more	GUncertain significance
Select item 2682990	NM_005045.4(RELN):c.10340A>G (p.His3447Arg)	SLC26A5-AS1, RELN (H3445R +1 more)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +2 more	GUncertain significance
Select item 2932717	NM_005045.4(RELN):c.10332G>A (p.Gly3444=)	RELN, SLC26A5-AS1	Single nucleotide variant (synonymous variant)	Familial temporal lobe epilepsy 7 +1 more	GLikely benign
Select item 838832	NM_005045.4(RELN):c.10322_10324del (p.Arg3441del)	RELN, SLC26A5-AS1 (R3439del +1 more)	Deletion (inframe_deletion)	Norman-Roberts syndrome +1 more	GUncertain significance
Select item 358375	NM_005045.4(RELN):c.10322G>A (p.Arg3441Gln)	SLC26A5-AS1, RELN (R3441Q +1 more)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +2 more	GConflicting classifications of pathogenicity
Select item 475948	NM_005045.4(RELN):c.10307TGA[1] (p.Met3437del)	SLC26A5-AS1, RELN (M3437del +1 more)	Microsatellite (inframe_deletion)	Norman-Roberts syndrome +1 more	GUncertain significance
Select item 198354	NM_005045.4(RELN):c.10310T>C (p.Met3437Thr)	RELN, SLC26A5-AS1 (M3437T +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 981443	NM_005045.4(RELN):c.10306A>G (p.Met3436Val)	RELN, SLC26A5-AS1 (M3434V +1 more)	Single nucleotide variant (missense variant)	Intellectual disability +2 more	GUncertain significance
Select item 1395482	NM_005045.4(RELN):c.10303T>C (p.Tyr3435His)	SLC26A5-AS1, RELN (Y3435H +1 more)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7 +1 more	GUncertain significance
Select item 1507711	NM_005045.4(RELN):c.10292G>A (p.Arg3431His)	RELN, SLC26A5-AS1 (R3429H +1 more)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +1 more	GUncertain significance
Select item 1414828	NM_005045.4(RELN):c.10288A>C (p.Thr3430Pro)	RELN, SLC26A5-AS1 (T3430P +1 more)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7 +1 more	GUncertain significance
Select item 2139122	NM_005045.4(RELN):c.10287-6T>C	RELN, SLC26A5-AS1	Single nucleotide variant (intron variant)	Familial temporal lobe epilepsy 7 +1 more	GLikely benign
Select item 1118554	NM_005045.4(RELN):c.10286+10_10286+12del	RELN, SLC26A5-AS1	Microsatellite (intron variant)	Norman-Roberts syndrome +1 more	GLikely benign
Select item 2165494	NM_005045.4(RELN):c.10286+8C>A	RELN, SLC26A5-AS1	Single nucleotide variant (intron variant)	Norman-Roberts syndrome +1 more	GLikely benign
Select item 1651376	NM_005045.4(RELN):c.10281-10T>C	RELN, SLC26A5-AS1	Single nucleotide variant (intron variant)	Familial temporal lobe epilepsy 7 +1 more	GLikely benign
Select item 1535314	NM_005045.4(RELN):c.10281-15T>C	RELN, SLC26A5-AS1	Single nucleotide variant (intron variant)	Norman-Roberts syndrome +1 more	GLikely benign
Select item 2938679	NM_005045.4(RELN):c.10280+19G>A	RELN, SLC26A5-AS1	Single nucleotide variant (intron variant)	Familial temporal lobe epilepsy 7 +1 more	GLikely benign
Select item 1654527	NM_005045.4(RELN):c.10280+12T>C	RELN, SLC26A5-AS1	Single nucleotide variant (intron variant)	Norman-Roberts syndrome +1 more	GLikely benign
Select item 1590813	NM_005045.4(RELN):c.10280+11A>G	RELN, SLC26A5-AS1	Single nucleotide variant (intron variant)	Norman-Roberts syndrome +1 more	GLikely benign
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 1438362	NM_005045.4(RELN):c.10273GTC[1] (p.Val3426del)	RELN, SLC26A5-AS1 (V3426del)	Microsatellite (inframe_deletion)	Familial temporal lobe epilepsy 7 +1 more	GUncertain significance
Select item 475947	NM_005045.4(RELN):c.10276G>A (p.Val3426Ile)	RELN, SLC26A5-AS1 (V3426I)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +1 more	GLikely benign
Select item 798063	NM_005045.4(RELN):c.10275C>T (p.Val3425=)	RELN, SLC26A5-AS1	Single nucleotide variant (synonymous variant)	Norman-Roberts syndrome +1 more	GLikely benign
Select item 1464839	NM_005045.4(RELN):c.10273G>A (p.Val3425Ile)	RELN, SLC26A5-AS1 (V3425I)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +1 more	GUncertain significance
Select item 1023132	NM_005045.4(RELN):c.10267G>A (p.Val3423Met)	RELN, SLC26A5-AS1 (V3423M)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2936342	NM_005045.4(RELN):c.10266T>C (p.His3422=)	SLC26A5-AS1, RELN	Single nucleotide variant (synonymous variant)	Familial temporal lobe epilepsy 7 +1 more	GBenign
Select item 1485514	NM_005045.4(RELN):c.10255G>T (p.Ala3419Ser)	RELN, SLC26A5-AS1 (A3419S)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +1 more	GUncertain significance
Select item 2952467	NM_005045.4(RELN):c.10252T>C (p.Trp3418Arg)	RELN, SLC26A5-AS1 (W3418R)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7 +1 more	GUncertain significance
Select item 2927681	NM_005045.4(RELN):c.10251A>C (p.Gln3417His)	RELN, SLC26A5-AS1 (Q3417H)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7 +2 more	GConflicting classifications of pathogenicity
Select item 1042752	NM_005045.4(RELN):c.10248T>A (p.Asp3416Glu)	RELN, SLC26A5-AS1 (D3416E)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7 +1 more	GUncertain significance
Select item 1139491	NM_005045.4(RELN):c.10233T>C (p.Asn3411=)	RELN, SLC26A5-AS1	Single nucleotide variant (synonymous variant)	Familial temporal lobe epilepsy 7 +1 more	GLikely benign
Select item 968994	NM_005045.4(RELN):c.10232A>G (p.Asn3411Ser)	RELN, SLC26A5-AS1 (N3411S)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7 +1 more	GUncertain significance
Select item 1978096	NM_005045.4(RELN):c.10231A>G (p.Asn3411Asp)	RELN, SLC26A5-AS1 (N3411D)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7 +1 more	GUncertain significance
Select item 2182202	NM_005045.4(RELN):c.10226G>A (p.Arg3409His)	RELN, SLC26A5-AS1 (R3409H)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +1 more	GLikely benign
Select item 2928371	NM_005045.4(RELN):c.10225C>T (p.Arg3409Cys)	RELN, SLC26A5-AS1 (R3409C)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7 +1 more	GLikely benign
Select item 1496328	NM_005045.4(RELN):c.10211G>A (p.Arg3404His)	RELN, SLC26A5-AS1 (R3404H)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7 +1 more	GUncertain significance
Select item 841644	NM_005045.4(RELN):c.10210C>T (p.Arg3404Cys)	RELN, SLC26A5-AS1 (R3404C)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +1 more	GUncertain significance
Select item 1381153	NM_005045.4(RELN):c.10207C>G (p.Leu3403Val)	RELN, SLC26A5-AS1 (L3403V)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7 +1 more	GUncertain significance
Select item 1604953	NM_005045.4(RELN):c.10191G>A (p.Arg3397=)	RELN, SLC26A5-AS1	Single nucleotide variant (synonymous variant)	Familial temporal lobe epilepsy 7 +1 more	GLikely benign
Select item 999253	NM_005045.4(RELN):c.10190G>A (p.Arg3397Gln)	RELN, SLC26A5-AS1 (R3397Q)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2934356	NM_005045.4(RELN):c.10189C>T (p.Arg3397Trp)	RELN, SLC26A5-AS1 (R3397W)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7 +1 more	GUncertain significance
Select item 511943	NM_005045.4(RELN):c.10182-9G>A	SLC26A5-AS1, RELN	Single nucleotide variant (intron variant)	Norman-Roberts syndrome +2 more	GLikely benign
Select item 358377	NM_005045.4(RELN):c.10182-11G>A	RELN, SLC26A5-AS1	Single nucleotide variant (intron variant)	Norman-Roberts syndrome +2 more	GBenign
Select item 2933126	NM_005045.4(RELN):c.10182-18C>T	RELN, SLC26A5-AS1	Single nucleotide variant (intron variant)	Familial temporal lobe epilepsy 7 +1 more	GLikely benign
Select item 2941832	NM_005045.4(RELN):c.10181+15T>C	RELN, SLC26A5-AS1	Single nucleotide variant (intron variant)	Familial temporal lobe epilepsy 7 +1 more	GLikely benign
Select item 475946	NM_005045.4(RELN):c.10181+7G>A	RELN, SLC26A5-AS1	Single nucleotide variant (intron variant)	Norman-Roberts syndrome +1 more	GUncertain significance
Select item 660465	NM_005045.4(RELN):c.10177C>T (p.Pro3393Ser)	RELN, SLC26A5-AS1 (P3393S)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7 +1 more	GUncertain significance
Select item 1113847	NM_005045.4(RELN):c.10176C>T (p.Val3392=)	RELN, SLC26A5-AS1	Single nucleotide variant (synonymous variant)	Familial temporal lobe epilepsy 7 +1 more	GLikely benign
Select item 2946598	NM_005045.4(RELN):c.10164G>A (p.Val3388=)	RELN, SLC26A5-AS1	Single nucleotide variant (synonymous variant)	Familial temporal lobe epilepsy 7 +1 more	GLikely benign
Select item 1040633	NM_005045.4(RELN):c.10157A>G (p.Gln3386Arg)	RELN, SLC26A5-AS1 (Q3386R)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +1 more	GUncertain significance
Select item 1656549	NM_005045.4(RELN):c.10152A>G (p.Gln3384=)	RELN, SLC26A5-AS1	Single nucleotide variant (synonymous variant)	Norman-Roberts syndrome +1 more	GLikely benign
Select item 644535	NM_005045.4(RELN):c.10135C>T (p.Pro3379Ser)	RELN, SLC26A5-AS1 (P3379S)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +1 more	GUncertain significance
Select item 952598	NM_005045.4(RELN):c.10131C>G (p.His3377Gln)	RELN, SLC26A5-AS1 (H3377Q)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +1 more	GUncertain significance
Select item 963705	NM_005045.4(RELN):c.10123G>A (p.Ala3375Thr)	RELN, SLC26A5-AS1 (A3375T)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +1 more	GUncertain significance
Select item 381313	NM_005045.4(RELN):c.10122C>T (p.Ile3374=)	RELN, SLC26A5-AS1	Single nucleotide variant (synonymous variant)	Familial temporal lobe epilepsy 7 +2 more	GLikely benign
Select item 596127	NM_005045.4(RELN):c.10120A>G (p.Ile3374Val)	SLC26A5-AS1, RELN (I3374V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 475944	NM_005045.4(RELN):c.10108A>G (p.Thr3370Ala)	RELN, SLC26A5-AS1 (T3370A)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +2 more	GLikely benign
Select item 1998975	NM_005045.4(RELN):c.10106T>C (p.Ile3369Thr)	RELN, SLC26A5-AS1 (I3369T)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +1 more	GUncertain significance
Select item 1559063	NM_005045.4(RELN):c.10104G>C (p.Gly3368=)	RELN, SLC26A5-AS1	Single nucleotide variant (synonymous variant)	Norman-Roberts syndrome +1 more	GLikely benign
Select item 475945	NM_005045.4(RELN):c.10102G>A (p.Gly3368Arg)	RELN, SLC26A5-AS1 (G3368R)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 390300	NM_005045.4(RELN):c.10101C>T (p.Asn3367=)	RELN, SLC26A5-AS1	Single nucleotide variant (synonymous variant)	Norman-Roberts syndrome +2 more	GLikely benign
Select item 2921772	NM_005045.4(RELN):c.10100A>G (p.Asn3367Ser)	RELN, SLC26A5-AS1 (N3367S)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7 +1 more	GUncertain significance
Select item 639323	NM_005045.4(RELN):c.10097A>G (p.Asn3366Ser)	RELN, SLC26A5-AS1 (N3366S)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +1 more	GUncertain significance
Select item 433104	NM_005045.4(RELN):c.10093G>A (p.Val3365Ile)	RELN, SLC26A5-AS1 (V3365I)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +3 more	GConflicting classifications of pathogenicity
Select item 932405	NM_005045.4(RELN):c.10092C>T (p.Ser3364=)	RELN, SLC26A5-AS1	Single nucleotide variant (synonymous variant)	Familial temporal lobe epilepsy 7 +2 more	GLikely benign
Select item 1125207	NM_005045.4(RELN):c.10086A>G (p.Gln3362=)	RELN, SLC26A5-AS1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1467938	NM_005045.4(RELN):c.10078C>A (p.Leu3360Met)	RELN, SLC26A5-AS1 (L3360M)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +1 more	GLikely benign
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 2023010	NM_005045.4(RELN):c.10065G>A (p.Val3355=)	RELN, SLC26A5-AS1	Single nucleotide variant (synonymous variant)	Familial temporal lobe epilepsy 7 +1 more	GLikely benign
Select item 1061134	NM_005045.4(RELN):c.10060G>A (p.Ala3354Thr)	RELN, SLC26A5-AS1 (A3354T)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +2 more	GLikely benign
Select item 2165840	NM_005045.4(RELN):c.10059C>T (p.His3353=)	RELN, SLC26A5-AS1	Single nucleotide variant (synonymous variant)	Familial temporal lobe epilepsy 7 +2 more	GLikely benign
Select item 1403999	NM_005045.4(RELN):c.10054C>A (p.Pro3352Thr)	SLC26A5-AS1, RELN (P3352T)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +1 more	GUncertain significance
Select item 1411664	NM_005045.4(RELN):c.10052G>T (p.Gly3351Val)	RELN, SLC26A5-AS1 (G3351V)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +1 more	GUncertain significance
Select item 1989796	NM_005045.4(RELN):c.10049G>A (p.Ser3350Asn)	RELN, SLC26A5-AS1 (S3350N)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7 +1 more	GUncertain significance
Select item 1670871	NM_005045.4(RELN):c.10047G>A (p.Leu3349=)	RELN, SLC26A5-AS1	Single nucleotide variant (synonymous variant)	Familial temporal lobe epilepsy 7 +1 more	GLikely benign
Select item 998997	NM_005045.4(RELN):c.10040G>A (p.Ser3347Asn)	RELN, SLC26A5-AS1 (S3347N)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +1 more	GUncertain significance
Select item 1009570	NM_005045.4(RELN):c.10039A>C (p.Ser3347Arg)	RELN, SLC26A5-AS1 (S3347R)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +1 more	GUncertain significance
Select item 2073058	NM_005045.4(RELN):c.10038C>A (p.Asn3346Lys)	RELN, SLC26A5-AS1 (N3346K)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1014204	NM_005045.4(RELN):c.10037A>G (p.Asn3346Ser)	RELN, SLC26A5-AS1 (N3346S)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 358378	NM_005045.4(RELN):c.10026G>A (p.Thr3342=)	RELN, SLC26A5-AS1	Single nucleotide variant (synonymous variant)	Norman-Roberts syndrome +2 more	GConflicting classifications of pathogenicity
Select item 624297	NM_005045.4(RELN):c.10025C>T (p.Thr3342Met)	SLC26A5-AS1, RELN (T3342M)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +4 more	GConflicting classifications of pathogenicity
Select item 844784	NM_005045.4(RELN):c.10022A>G (p.Gln3341Arg)	RELN, SLC26A5-AS1 (Q3341R)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +1 more	GUncertain significance
Select item 475943	NM_005045.4(RELN):c.10020G>A (p.Ser3340=)	RELN, SLC26A5-AS1	Single nucleotide variant (synonymous variant)	Norman-Roberts syndrome +1 more	GLikely benign
Select item 1696262	NM_005045.4(RELN):c.10019C>T (p.Ser3340Leu)	RELN, SLC26A5-AS1 (S3340L)	Single nucleotide variant (missense variant)	not specified +2 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 specified +4 more	GConflicting classifications of pathogenicity
Select item 2929087	NM_005045.4(RELN):c.10015A>C (p.Met3339Leu)	RELN, SLC26A5-AS1 (M3339L)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7 +1 more	GLikely benign
Select item 475998	NM_005045.4(RELN):c.9991A>G (p.Met3331Val)	RELN, SLC26A5-AS1 (M3331V)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +1 more	GUncertain significance
Select item 2021194	NM_005045.4(RELN):c.9990C>T (p.Ile3330=)	RELN, SLC26A5-AS1	Single nucleotide variant (synonymous variant)	Norman-Roberts syndrome +1 more	GLikely benign
Select item 1012564	NM_005045.4(RELN):c.9984-4T>G	RELN, SLC26A5-AS1	Single nucleotide variant (intron variant)	Norman-Roberts syndrome +2 more	GLikely benign
Select item 475997	NM_005045.4(RELN):c.9984-9G>A	RELN, SLC26A5-AS1	Single nucleotide variant (intron variant)	Norman-Roberts syndrome +1 more	GLikely benign
Select item 2928819	NM_005045.4(RELN):c.9984-15C>G	RELN, SLC26A5-AS1	Single nucleotide variant (intron variant)	Familial temporal lobe epilepsy 7 +1 more	GLikely benign
Select item 2002920	NM_005045.4(RELN):c.9983+16T>C	RELN, SLC26A5-AS1	Single nucleotide variant (intron variant)	Familial temporal lobe epilepsy 7 +1 more	GLikely benign
Select item 2040006	NM_005045.4(RELN):c.9983+15A>G	RELN, SLC26A5-AS1	Single nucleotide variant (intron variant)	Norman-Roberts syndrome +1 more	GLikely benign

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