"Ambry Genetics"[submitter] AND "RELN"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 195

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 432578	NM_005045.4(RELN):c.10355G>A (p.Arg3452Lys)	RELN, SLC26A5-AS1 (R3452K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 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 2308677	NM_005045.4(RELN):c.10151A>G (p.Gln3384Arg)	RELN, SLC26A5-AS1 (Q3384R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 624297	NM_005045.4(RELN):c.10025C>T (p.Thr3342Met)	RELN, SLC26A5-AS1 (T3342M)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 835843	NM_005045.4(RELN):c.9832G>C (p.Val3278Leu)	RELN, SLC26A5-AS1 (V3278L)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7 +2 more	GUncertain significance
Select item 568369	NM_005045.4(RELN):c.9753G>C (p.Glu3251Asp)	LOC126860130, RELN +1 more (E3251D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 958771	NM_005045.4(RELN):c.9730G>C (p.Gly3244Arg)	LOC126860130, RELN +1 more (G3244R)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +2 more	GConflicting classifications of pathogenicity
Select item 844081	NM_005045.4(RELN):c.9643A>G (p.Thr3215Ala)	LOC126860130, RELN +1 more (T3215A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2541161	NM_005045.4(RELN):c.9628C>G (p.Gln3210Glu)	LOC126860130, RELN +1 more (Q3210E)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +2 more	GConflicting classifications of pathogenicity
Select item 580355	NM_005045.4(RELN):c.9478C>G (p.Leu3160Val)	LOC126860130, RELN +1 more (L3160V)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 2231475	NM_005045.4(RELN):c.9328C>G (p.Arg3110Gly)	RELN, SLC26A5-AS1 (R3110G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 198005	NM_005045.4(RELN):c.9295AAG[1] (p.Lys3100del)	RELN, SLC26A5-AS1 (K3100del)	Microsatellite (inframe_deletion)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 1285576	NM_005045.4(RELN):c.9281A>G (p.Tyr3094Cys)	RELN, SLC26A5-AS1 (Y3094C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 3313587	NM_005045.4(RELN):c.9109G>A (p.Glu3037Lys)	RELN, SLC26A5-AS1 (E3037K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 908255	NM_005045.4(RELN):c.9095T>C (p.Val3032Ala)	RELN, SLC26A5-AS1 (V3032A)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +2 more	GUncertain significance
Select item 2338439	NM_005045.4(RELN):c.9087T>A (p.Asn3029Lys)	RELN, SLC26A5-AS1 (N3029K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2231644	NM_005045.4(RELN):c.9075T>G (p.Phe3025Leu)	RELN, SLC26A5-AS1 (F3025L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1434834	NM_005045.4(RELN):c.9016A>C (p.Ile3006Leu)	RELN, SLC26A5-AS1 (I3006L)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +2 more	GConflicting classifications of pathogenicity
Select item 843400	NM_005045.4(RELN):c.8809G>A (p.Ala2937Thr)	RELN, SLC26A5-AS1 (A2937T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 862295	NM_005045.4(RELN):c.8795C>A (p.Ser2932Tyr)	RELN, SLC26A5-AS1 (S2932Y)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 2615908	NM_005045.4(RELN):c.8725T>G (p.Leu2909Val)	RELN, SLC26A5-AS1 (L2909V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2542899	NM_005045.4(RELN):c.8561C>T (p.Pro2854Leu)	RELN, SLC26A5-AS1 (P2854L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2286605	NM_005045.4(RELN):c.8481A>C (p.Leu2827Phe)	RELN, SLC26A5-AS1 (L2827F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 942671	NM_005045.4(RELN):c.8389G>A (p.Asp2797Asn)	RELN, SLC26A5-AS1 (D2797N)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +2 more	GUncertain significance
Select item 2317410	NM_005045.4(RELN):c.8308G>T (p.Ala2770Ser)	RELN, SLC26A5-AS1 (A2770S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3313581	NM_005045.4(RELN):c.8268A>T (p.Gln2756His)	RELN, SLC26A5-AS1 (Q2756H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 498237	NM_005045.4(RELN):c.8212C>T (p.Arg2738Trp)	RELN, SLC26A5-AS1 (R2738W)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 2417884	NM_005045.4(RELN):c.8181T>A (p.Asp2727Glu)	RELN, SLC26A5-AS1 (D2727E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 572620	NM_005045.4(RELN):c.8181T>G (p.Asp2727Glu)	RELN, SLC26A5-AS1 (D2727E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 2229121	NM_005045.4(RELN):c.8083A>T (p.Ile2695Phe)	RELN (I2695F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1981758	NM_005045.4(RELN):c.8077G>A (p.Gly2693Arg)	RELN (G2693R)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +2 more	GConflicting classifications of pathogenicity
Select item 547863	NM_005045.4(RELN):c.7757C>T (p.Thr2586Ile)	RELN (T2586I)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +4 more	GUncertain significance
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 846972	NM_005045.4(RELN):c.7605C>A (p.Asn2535Lys)	RELN (N2535K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 969039	NM_005045.4(RELN):c.7489G>A (p.Val2497Ile)	RELN (V2497I)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7 +2 more	GUncertain significance
Select item 2294594	NM_005045.4(RELN):c.7369C>T (p.Arg2457Cys)	RELN (R2457C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2271713	NM_005045.4(RELN):c.7366T>C (p.Phe2456Leu)	RELN (F2456L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1468765	NM_005045.4(RELN):c.7339C>G (p.Pro2447Ala)	RELN (P2447A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 939392	NM_005045.4(RELN):c.7268G>A (p.Arg2423His)	RELN (R2423H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 999706	NM_005045.4(RELN):c.7231G>A (p.Val2411Ile)	RELN (V2411I)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7 +2 more	GUncertain significance
Select item 3313583	NM_005045.4(RELN):c.7029G>T (p.Lys2343Asn)	RELN (K2343N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3152955	NM_005045.4(RELN):c.6958A>C (p.Asn2320His)	RELN (N2320H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3313596	NM_005045.4(RELN):c.6920T>C (p.Val2307Ala)	RELN (V2307A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2228331	NM_005045.4(RELN):c.6775A>G (p.Ser2259Gly)	RELN (S2259G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 197466	NM_005045.4(RELN):c.6520G>A (p.Glu2174Lys)	RELN (E2174K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 542581	NM_005045.4(RELN):c.6512A>G (p.Asp2171Gly)	RELN (D2171G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 542579	NM_005045.4(RELN):c.6401A>G (p.Glu2134Gly)	RELN (E2134G)	Single nucleotide variant (missense variant)	See cases +3 more	GUncertain significance
Select item 3152954	NM_005045.4(RELN):c.6328G>A (p.Gly2110Arg)	RELN (G2110R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 197440	NM_005045.4(RELN):c.6278A>C (p.His2093Pro)	RELN (H2093P)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 655822	NM_005045.4(RELN):c.6190C>G (p.His2064Asp)	RELN (H2064D)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7 +2 more	GUncertain significance
Select item 648956	NM_005045.4(RELN):c.6170T>G (p.Leu2057Arg)	RELN (L2057R)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 937297	NM_005045.4(RELN):c.6169C>G (p.Leu2057Val)	RELN (L2057V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 542578	NM_005045.4(RELN):c.6166C>T (p.Pro2056Ser)	RELN (P2056S)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1510282	NM_005045.4(RELN):c.6164T>C (p.Leu2055Pro)	RELN (L2055P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
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 498311	NM_005045.4(RELN):c.6106G>A (p.Ala2036Thr)	RELN (A2036T)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1006697	NM_005045.4(RELN):c.6079G>A (p.Val2027Ile)	RELN (V2027I)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7 +2 more	GConflicting classifications of pathogenicity
Select item 2558920	NM_005045.4(RELN):c.6058A>G (p.Ile2020Val)	RELN (I2020V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 475975	NM_005045.4(RELN):c.6031C>T (p.Arg2011Cys)	RELN (R2011C)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +3 more	GUncertain significance
Select item 1339024	NM_005045.4(RELN):c.5995G>A (p.Val1999Ile)	RELN (V1999I)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7 +1 more	GUncertain significance
Select item 429549	NM_005045.4(RELN):c.5969C>T (p.Pro1990Leu)	RELN (P1990L)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +3 more	GUncertain significance
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 1043879	NM_005045.4(RELN):c.5935G>A (p.Gly1979Ser)	RELN (G1979S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
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 95223	NM_005045.4(RELN):c.5711C>T (p.Thr1904Met)	RELN (T1904M)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 497204	NM_005045.4(RELN):c.5668A>G (p.Ile1890Val)	RELN (I1890V)	Single nucleotide variant (missense variant)	Epilepsy, familial temporal lobe, 1 +4 more	GConflicting classifications of pathogenicity
Select item 2305567	NM_005045.4(RELN):c.5656A>G (p.Ile1886Val)	RELN (I1886V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3313582	NM_005045.4(RELN):c.5615G>A (p.Ser1872Asn)	RELN (S1872N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3152952	NM_005045.4(RELN):c.5550T>G (p.Ile1850Met)	RELN (I1850M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1025539	NM_005045.4(RELN):c.5377T>G (p.Tyr1793Asp)	RELN (Y1793D)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7 +3 more	GUncertain significance
Select item 1002525	NM_005045.4(RELN):c.5360G>A (p.Arg1787Gln)	RELN (R1787Q)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7 +2 more	GConflicting classifications of pathogenicity
Select item 836600	NM_005045.4(RELN):c.5345G>A (p.Arg1782His)	RELN (R1782H)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7 +2 more	GConflicting classifications of pathogenicity
Select item 521876	NM_005045.4(RELN):c.5300G>A (p.Gly1767Glu)	RELN (G1767E)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +3 more	GConflicting classifications of pathogenicity
Select item 3152951	NM_005045.4(RELN):c.5294C>T (p.Ala1765Val)	RELN (A1765V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2272749	NM_005045.4(RELN):c.5247C>A (p.Asn1749Lys)	RELN (N1749K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1040242	NM_005045.4(RELN):c.5246A>G (p.Asn1749Ser)	RELN (N1749S)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +4 more	GConflicting classifications of pathogenicity
Select item 2276276	NM_005045.4(RELN):c.5239C>G (p.Gln1747Glu)	RELN (Q1747E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1516456	NM_005045.4(RELN):c.5227T>C (p.Phe1743Leu)	RELN (F1743L)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +2 more	GUncertain significance
Select item 475970	NM_005045.4(RELN):c.5225G>A (p.Arg1742Gln)	RELN (R1742Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 2080054	NM_005045.4(RELN):c.5207C>T (p.Thr1736Ile)	RELN (T1736I)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +2 more	GUncertain significance
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 3313591	NM_005045.4(RELN):c.5147T>C (p.Ile1716Thr)	RELN (I1716T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2491637	NM_005045.4(RELN):c.5089G>A (p.Val1697Ile)	RELN (V1697I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 810164	NM_005045.4(RELN):c.5038C>A (p.His1680Asn)	RELN (H1680N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2935452	NM_005045.4(RELN):c.5006G>C (p.Ser1669Thr)	RELN (S1669T)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7 +2 more	GConflicting classifications of pathogenicity
Select item 542571	NM_005045.4(RELN):c.5005A>C (p.Ser1669Arg)	RELN (S1669R)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +2 more	GUncertain significance
Select item 284901	NM_005045.4(RELN):c.5002A>G (p.Met1668Val)	RELN (M1668V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 2930560	NM_005045.4(RELN):c.4933A>T (p.Ile1645Leu)	RELN (I1645L)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7 +2 more	GConflicting classifications of pathogenicity
Select item 2528699	NM_005045.4(RELN):c.4924A>G (p.Thr1642Ala)	RELN (T1642A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 130123	NM_005045.4(RELN):c.4907A>G (p.Asp1636Gly)	RELN (D1636G)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 576903	NM_005045.4(RELN):c.4843G>C (p.Asp1615His)	RELN (D1615H)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +2 more	GUncertain significance
Select item 1485820	NM_005045.4(RELN):c.4838C>T (p.Ser1613Phe)	RELN (S1613F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2338910	NM_005045.4(RELN):c.4681T>C (p.Ser1561Pro)	RELN (S1561P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1392122	NM_005045.4(RELN):c.4649A>T (p.Asp1550Val)	RELN (D1550V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1915285	NM_005045.4(RELN):c.4630C>G (p.His1544Asp)	RELN (H1544D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 854860	NM_005045.4(RELN):c.4564A>T (p.Ile1522Phe)	RELN (I1522F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 196629	NM_005045.4(RELN):c.4457A>G (p.Asn1486Ser)	RELN (N1486S)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 3152950	NM_005045.4(RELN):c.4443A>T (p.Lys1481Asn)	RELN (K1481N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

<< First< Prev

Page of 2