ClinVar for MedGen (Select 163213) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362595	NM_005045.4(RELN):c.3136_3140del (p.Gly1046fs)	RELN (G1046fs)	Deletion (frameshift variant)	Norman-Roberts syndrome	GLikely pathogenic
Select item 3362557	NM_005045.4(RELN):c.217G>C (p.Glu73Gln)	RELN (E73Q)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome	GUncertain significance
Select item 3245826	NC_000007.13:g.(?_103196019)_(103206706_?)del	RELN	Deletion	Norman-Roberts syndrome +1 more	GLikely pathogenic
Select item 3245825	NC_000007.13:g.(?_103629558)_(103629803_?)del	RELN	Deletion	Norman-Roberts syndrome +1 more	GPathogenic
Select item 3238848	NM_005045.4(RELN):c.10297C>T (p.Gln3433Ter)	RELN, SLC26A5-AS1 (Q3431* +1 more)	Single nucleotide variant (nonsense)	Norman-Roberts syndrome	GLikely pathogenic
Select item 3238807	NM_005045.4(RELN):c.10166_10167del (p.Ser3389fs)	RELN, SLC26A5-AS1 (S3389fs)	Deletion (frameshift variant)	Norman-Roberts syndrome	GLikely pathogenic
Select item 3065514	NM_005045.4(RELN):c.8654C>T (p.Thr2885Ile)	RELN, SLC26A5-AS1 (T2885I)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome	GUncertain significance
Select item 3064188	NM_005045.4(RELN):c.3711+2T>C	RELN	Single nucleotide variant (splice donor variant)	Norman-Roberts syndrome	GPathogenic
Select item 2954534	NM_005045.4(RELN):c.2207T>G (p.Phe736Cys)	RELN (F736C)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +1 more	GUncertain significance
Select item 2954516	NM_005045.4(RELN):c.6301G>A (p.Gly2101Arg)	RELN (G2101R)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +1 more	GUncertain significance
Select item 2954482	NM_005045.4(RELN):c.4904T>C (p.Met1635Thr)	RELN (M1635T)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +1 more	GUncertain significance
Select item 2954466	NM_005045.4(RELN):c.5614+8T>C	RELN	Single nucleotide variant (intron variant)	Norman-Roberts syndrome +1 more	GLikely benign
Select item 2954335	NM_005045.4(RELN):c.6017A>T (p.His2006Leu)	RELN (H2006L)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +1 more	GUncertain significance
Select item 2954247	NM_005045.4(RELN):c.8490-24_8490-20dup	RELN, SLC26A5-AS1	Duplication (intron variant)	Norman-Roberts syndrome +1 more	GLikely benign
Select item 2954003	NM_005045.4(RELN):c.8664G>C (p.Leu2888=)	RELN, SLC26A5-AS1	Single nucleotide variant (synonymous variant)	Norman-Roberts syndrome +1 more	GLikely benign
Select item 2954001	NM_005045.4(RELN):c.7669-31_7669-20del	RELN	Deletion (intron variant)	Norman-Roberts syndrome +1 more	GLikely benign
Select item 2953994	NM_005045.4(RELN):c.4868T>C (p.Ile1623Thr)	RELN (I1623T)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +1 more	GUncertain significance
Select item 2953756	NM_005045.4(RELN):c.805+1G>T	RELN	Single nucleotide variant (splice donor variant)	Norman-Roberts syndrome +1 more	GLikely pathogenic
Select item 2953606	NM_005045.4(RELN):c.765C>T (p.Gly255=)	RELN	Single nucleotide variant (synonymous variant)	Familial temporal lobe epilepsy 7 +1 more	GLikely benign
Select item 2953599	NM_005045.4(RELN):c.3018T>C (p.Ala1006=)	RELN	Single nucleotide variant (synonymous variant)	Familial temporal lobe epilepsy 7 +1 more	GLikely benign
Select item 2953558	NM_005045.4(RELN):c.7491-6A>G	RELN	Single nucleotide variant (intron variant)	Familial temporal lobe epilepsy 7 +1 more	GLikely benign
Select item 2953495	NM_005045.4(RELN):c.4601A>G (p.Gln1534Arg)	RELN (Q1534R)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7 +1 more	GUncertain significance
Select item 2953484	NM_005045.4(RELN):c.5579T>C (p.Met1860Thr)	RELN (M1860T)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7 +1 more	GUncertain significance
Select item 2953441	NM_005045.4(RELN):c.6787G>T (p.Glu2263Ter)	RELN (E2263*)	Single nucleotide variant (nonsense)	Familial temporal lobe epilepsy 7 +1 more	GPathogenic
Select item 2953328	NM_005045.4(RELN):c.8951-4A>G	RELN, SLC26A5-AS1	Single nucleotide variant (intron variant)	Familial temporal lobe epilepsy 7 +1 more	GLikely benign
Select item 2953177	NM_005045.4(RELN):c.3515A>G (p.Tyr1172Cys)	RELN (Y1172C)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7 +1 more	GLikely benign
Select item 2953117	NM_005045.4(RELN):c.3429C>T (p.Cys1143=)	RELN	Single nucleotide variant (synonymous variant)	Familial temporal lobe epilepsy 7 +1 more	GLikely benign
Select item 2953068	NM_005045.4(RELN):c.4547C>G (p.Thr1516Ser)	RELN (T1516S)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7 +1 more	GUncertain significance
Select item 2953032	NM_005045.4(RELN):c.8068G>C (p.Gly2690Arg)	RELN (G2690R)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7 +1 more	GUncertain significance
Select item 2952937	NM_005045.4(RELN):c.6651C>T (p.Asp2217=)	RELN	Single nucleotide variant (synonymous variant)	Familial temporal lobe epilepsy 7 +1 more	GLikely benign
Select item 2952933	NM_005045.4(RELN):c.6850G>A (p.Ala2284Thr)	RELN (A2284T)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7 +1 more	GUncertain significance
Select item 2952785	NM_005045.4(RELN):c.4582A>G (p.Asn1528Asp)	RELN (N1528D)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7 +1 more	GUncertain significance
Select item 2952718	NM_005045.4(RELN):c.6271G>T (p.Val2091Phe)	RELN (V2091F)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7 +1 more	GUncertain significance
Select item 2952717	NM_005045.4(RELN):c.6270G>A (p.Glu2090=)	RELN	Single nucleotide variant (synonymous variant)	Familial temporal lobe epilepsy 7 +1 more	GLikely benign
Select item 2952674	NM_005045.4(RELN):c.7117A>C (p.Asn2373His)	RELN (N2373H)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7 +1 more	GUncertain significance
Select item 2952672	NM_005045.4(RELN):c.8534G>T (p.Trp2845Leu)	RELN, SLC26A5-AS1 (W2845L)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7 +1 more	GUncertain significance
Select item 2952643	NM_005045.4(RELN):c.9480T>G (p.Leu3160=)	LOC126860130, RELN +1 more	Single nucleotide variant (synonymous variant)	Familial temporal lobe epilepsy 7 +1 more	GLikely benign
Select item 2952551	NM_005045.4(RELN):c.3772T>G (p.Leu1258Val)	RELN (L1258V)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7 +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 2952365	NM_005045.4(RELN):c.5606T>G (p.Ile1869Arg)	RELN (I1869R)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7 +1 more	GUncertain significance
Select item 2952248	NM_005045.4(RELN):c.6185G>A (p.Ser2062Asn)	RELN (S2062N)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7 +1 more	GUncertain significance
Select item 2952246	NM_005045.4(RELN):c.859G>A (p.Ala287Thr)	RELN (A287T)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7 +1 more	GUncertain significance
Select item 2952191	NM_005045.4(RELN):c.4146-7C>T	RELN	Single nucleotide variant (intron variant)	Familial temporal lobe epilepsy 7 +1 more	GLikely benign
Select item 2952178	NM_005045.4(RELN):c.4936+1G>T	RELN	Single nucleotide variant (splice donor variant)	Familial temporal lobe epilepsy 7 +1 more	GLikely pathogenic
Select item 2952156	NM_005045.4(RELN):c.1623G>A (p.Arg541=)	RELN	Single nucleotide variant (synonymous variant)	Familial temporal lobe epilepsy 7 +1 more	GLikely benign
Select item 2952138	NM_005045.4(RELN):c.3845C>T (p.Ser1282Leu)	RELN (S1282L)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7 +1 more	GUncertain significance
Select item 2952099	NM_005045.4(RELN):c.675_676del (p.Cys225_Glu226delinsTer)	RELN	Microsatellite (nonsense)	Familial temporal lobe epilepsy 7 +1 more	GPathogenic
Select item 2952052	NM_005045.4(RELN):c.843C>A (p.Ser281Arg)	RELN (S281R)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7 +1 more	GUncertain significance
Select item 2952022	NM_005045.4(RELN):c.1941C>T (p.Asn647=)	RELN	Single nucleotide variant (synonymous variant)	Familial temporal lobe epilepsy 7 +1 more	GLikely benign
Select item 2951928	NM_005045.4(RELN):c.4972G>A (p.Val1658Met)	RELN (V1658M)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7 +1 more	GUncertain significance
Select item 2951863	NM_005045.4(RELN):c.292G>A (p.Val98Ile)	RELN (V98I)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7 +1 more	GUncertain significance
Select item 2951860	NM_005045.4(RELN):c.8041C>T (p.Gln2681Ter)	RELN (Q2681*)	Single nucleotide variant (nonsense)	Familial temporal lobe epilepsy 7 +1 more	GPathogenic
Select item 2951761	NM_005045.4(RELN):c.7863-13C>T	RELN	Single nucleotide variant (intron variant)	Familial temporal lobe epilepsy 7 +1 more	GLikely benign
Select item 2951568	NM_005045.4(RELN):c.9438T>C (p.Asp3146=)	RELN, SLC26A5-AS1	Single nucleotide variant (synonymous variant)	Familial temporal lobe epilepsy 7 +1 more	GLikely benign
Select item 2951537	NM_005045.4(RELN):c.7180G>A (p.Ala2394Thr)	RELN (A2394T)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7 +1 more	GUncertain significance
Select item 2951533	NM_005045.4(RELN):c.2069+16T>C	RELN	Single nucleotide variant (intron variant)	Familial temporal lobe epilepsy 7 +1 more	GLikely benign
Select item 2951532	NM_005045.4(RELN):c.2163C>A (p.Ser721=)	RELN	Single nucleotide variant (synonymous variant)	Familial temporal lobe epilepsy 7 +1 more	GLikely benign
Select item 2951513	NM_005045.4(RELN):c.3041G>A (p.Ser1014Asn)	RELN (S1014N)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7 +1 more	GUncertain significance
Select item 2951455	NM_005045.4(RELN):c.8130C>A (p.His2710Gln)	RELN, SLC26A5-AS1 (H2710Q)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7 +1 more	GUncertain significance
Select item 2951353	NM_005045.4(RELN):c.9887G>A (p.Gly3296Glu)	RELN, SLC26A5-AS1 (G3296E)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7 +1 more	GUncertain significance
Select item 2951304	NM_005045.4(RELN):c.9447G>T (p.Ser3149=)	LOC126860130, RELN +1 more	Single nucleotide variant (synonymous variant)	Familial temporal lobe epilepsy 7 +1 more	GLikely benign
Select item 2951156	NM_005045.4(RELN):c.1763+9_1763+22del	RELN	Deletion (intron variant)	Familial temporal lobe epilepsy 7 +1 more	GUncertain significance
Select item 2951096	NM_005045.4(RELN):c.7815C>T (p.Thr2605=)	RELN	Single nucleotide variant (synonymous variant)	Familial temporal lobe epilepsy 7 +1 more	GLikely benign
Select item 2951079	NM_005045.4(RELN):c.8516A>G (p.Lys2839Arg)	RELN, SLC26A5-AS1 (K2839R)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7 +1 more	GUncertain significance
Select item 2951016	NM_005045.4(RELN):c.2196T>G (p.Ala732=)	RELN	Single nucleotide variant (synonymous variant)	Familial temporal lobe epilepsy 7 +1 more	GLikely benign
Select item 2950943	NM_005045.4(RELN):c.2418T>G (p.Thr806=)	RELN	Single nucleotide variant (synonymous variant)	Familial temporal lobe epilepsy 7 +1 more	GLikely benign
Select item 2950942	NM_005045.4(RELN):c.7886C>T (p.Pro2629Leu)	RELN (P2629L)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7 +1 more	GUncertain significance
Select item 2950926	NM_005045.4(RELN):c.3828A>G (p.Ala1276=)	RELN	Single nucleotide variant (synonymous variant)	Familial temporal lobe epilepsy 7 +1 more	GLikely benign
Select item 2950904	NM_005045.4(RELN):c.3539+15G>C	RELN	Single nucleotide variant (intron variant)	Familial temporal lobe epilepsy 7 +1 more	GLikely benign
Select item 2950790	NM_005045.4(RELN):c.7243C>G (p.Leu2415Val)	RELN (L2415V)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7 +1 more	GUncertain significance
Select item 2950771	NM_005045.4(RELN):c.6767T>C (p.Leu2256Pro)	RELN (L2256P)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7 +1 more	GUncertain significance
Select item 2950770	NM_005045.4(RELN):c.582A>G (p.Glu194=)	RELN	Single nucleotide variant (synonymous variant)	Familial temporal lobe epilepsy 7 +1 more	GLikely benign
Select item 2950611	NM_005045.4(RELN):c.7054G>A (p.Asp2352Asn)	RELN (D2352N)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7 +1 more	GUncertain significance
Select item 2950529	NM_005045.4(RELN):c.7365T>C (p.Arg2455=)	RELN	Single nucleotide variant (synonymous variant)	Familial temporal lobe epilepsy 7 +1 more	GLikely benign
Select item 2950209	NM_005045.4(RELN):c.7290G>A (p.Leu2430=)	RELN	Single nucleotide variant (synonymous variant)	Familial temporal lobe epilepsy 7 +1 more	GLikely benign
Select item 2950182	NM_005045.4(RELN):c.89A>G (p.Tyr30Cys)	RELN (Y30C)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7 +1 more	GUncertain significance
Select item 2950083	NM_005045.4(RELN):c.2130T>C (p.Phe710=)	RELN	Single nucleotide variant (synonymous variant)	Familial temporal lobe epilepsy 7 +1 more	GLikely benign
Select item 2949922	NM_005045.4(RELN):c.3856C>T (p.Arg1286Ter)	RELN (R1286*)	Single nucleotide variant (nonsense)	Familial temporal lobe epilepsy 7 +1 more	GPathogenic
Select item 2949911	NM_005045.4(RELN):c.1931T>C (p.Leu644Pro)	RELN (L644P)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7 +1 more	GUncertain significance
Select item 2949849	NM_005045.4(RELN):c.8698G>T (p.Glu2900Ter)	RELN, SLC26A5-AS1 (E2900*)	Single nucleotide variant (nonsense)	Familial temporal lobe epilepsy 7 +1 more	GPathogenic
Select item 2949841	NM_005045.4(RELN):c.1441+15A>G	LOC126860131, RELN	Single nucleotide variant (intron variant)	Familial temporal lobe epilepsy 7 +1 more	GLikely benign
Select item 2949827	NM_005045.4(RELN):c.8392C>T (p.Pro2798Ser)	RELN, SLC26A5-AS1 (P2798S)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7 +1 more	GUncertain significance
Select item 2949796	NM_005045.4(RELN):c.9492T>A (p.Ser3164=)	LOC126860130, RELN +1 more	Single nucleotide variant (synonymous variant)	Familial temporal lobe epilepsy 7 +1 more	GLikely benign
Select item 2949712	NM_005045.4(RELN):c.6843C>T (p.Pro2281=)	RELN	Single nucleotide variant (synonymous variant)	Familial temporal lobe epilepsy 7 +1 more	GLikely benign
Select item 2949615	NM_005045.4(RELN):c.8951-15T>C	RELN, SLC26A5-AS1	Single nucleotide variant (intron variant)	Norman-Roberts syndrome +1 more	GLikely benign
Select item 2949607	NM_005045.4(RELN):c.754-13C>A	RELN	Single nucleotide variant (intron variant)	Norman-Roberts syndrome +1 more	GLikely benign
Select item 2949490	NM_005045.4(RELN):c.8398T>C (p.Cys2800Arg)	RELN, SLC26A5-AS1 (C2800R)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +1 more	GUncertain significance
Select item 2949342	NM_005045.4(RELN):c.2848C>G (p.Leu950Val)	RELN (L950V)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +1 more	GUncertain significance
Select item 2949271	NM_005045.4(RELN):c.7016C>A (p.Pro2339Gln)	RELN (P2339Q)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +1 more	GUncertain significance
Select item 2949264	NM_005045.4(RELN):c.2703-3C>T	RELN	Single nucleotide variant (intron variant)	Norman-Roberts syndrome +1 more	GUncertain significance
Select item 2949238	NM_005045.4(RELN):c.5352-13C>T	RELN	Single nucleotide variant (intron variant)	Norman-Roberts syndrome +1 more	GLikely benign
Select item 2949204	NM_005045.4(RELN):c.6931-8C>G	RELN	Single nucleotide variant (intron variant)	Norman-Roberts syndrome +1 more	GUncertain significance
Select item 2948997	NM_005045.4(RELN):c.917T>C (p.Val306Ala)	RELN (V306A)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +1 more	GUncertain significance
Select item 2948850	NM_005045.4(RELN):c.7882C>A (p.Pro2628Thr)	RELN (P2628T)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +1 more	GUncertain significance
Select item 2948768	NM_005045.4(RELN):c.1555-4A>G	RELN	Single nucleotide variant (intron variant)	Norman-Roberts syndrome +1 more	GUncertain significance
Select item 2948759	NM_005045.4(RELN):c.3271A>C (p.Ile1091Leu)	RELN (I1091L)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +1 more	GUncertain significance
Select item 2948704	NM_005045.4(RELN):c.8537C>T (p.Ala2846Val)	RELN, SLC26A5-AS1 (A2846V)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +1 more	GUncertain significance
Select item 2948570	NM_005045.4(RELN):c.2013C>G (p.Gly671=)	RELN	Single nucleotide variant (synonymous variant)	Norman-Roberts syndrome +1 more	GLikely benign
Select item 2948475	NM_005045.4(RELN):c.656+15C>T	RELN	Single nucleotide variant (intron variant)	Norman-Roberts syndrome +1 more	GLikely benign
Select item 2948356	NM_005045.4(RELN):c.8118A>G (p.Ser2706=)	RELN	Single nucleotide variant (synonymous variant)	Norman-Roberts syndrome +1 more	GUncertain significance

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