ClinVar Miner

List of variants in gene combination LOC101927870, RELN reported as uncertain significance for Norman-Roberts syndrome; Epilepsy, familial temporal lobe, 7

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Total variants: 91
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HGVS dbSNP
NM_005045.4(RELN):c.10016T>C (p.Met3339Thr) rs150638029
NM_005045.4(RELN):c.10022A>G (p.Gln3341Arg)
NM_005045.4(RELN):c.10025C>T (p.Thr3342Met) rs201703640
NM_005045.4(RELN):c.10097A>G (p.Asn3366Ser) rs148140675
NM_005045.4(RELN):c.10102G>A (p.Gly3368Arg) rs753769576
NM_005045.4(RELN):c.10120A>G (p.Ile3374Val) rs752768228
NM_005045.4(RELN):c.10123G>A (p.Ala3375Thr)
NM_005045.4(RELN):c.10131C>G (p.His3377Gln)
NM_005045.4(RELN):c.10135C>T (p.Pro3379Ser) rs1288993333
NM_005045.4(RELN):c.10177C>T (p.Pro3393Ser) rs771869485
NM_005045.4(RELN):c.10181+7G>A rs1554360619
NM_005045.4(RELN):c.10210C>T (p.Arg3404Cys)
NM_005045.4(RELN):c.10232A>G (p.Asn3411Ser)
NM_005045.4(RELN):c.10307_10309TGA[1] (p.Met3437del) rs1406481652
NM_005045.4(RELN):c.10310T>C (p.Met3437Thr) rs377638585
NM_005045.4(RELN):c.10322G>A (p.Arg3441Gln) rs116463039
NM_005045.4(RELN):c.10322_10324del (p.Arg3441del)
NM_005045.4(RELN):c.10357C>T (p.Arg3453Ter) rs139326865
NM_005045.4(RELN):c.10358G>A (p.Arg3453Gln)
NM_005045.4(RELN):c.10372C>T (p.Arg3458Ter)
NM_005045.4(RELN):c.8123A>C (p.Asn2708Thr)
NM_005045.4(RELN):c.8141A>G (p.His2714Arg) rs746594396
NM_005045.4(RELN):c.8146G>A (p.Asp2716Asn) rs771804551
NM_005045.4(RELN):c.8181T>G (p.Asp2727Glu) rs778861276
NM_005045.4(RELN):c.8182G>A (p.Gly2728Ser) rs1463489255
NM_005045.4(RELN):c.8195G>T (p.Cys2732Phe) rs777843062
NM_005045.4(RELN):c.8212C>T (p.Arg2738Trp) rs202166176
NM_005045.4(RELN):c.8213G>A (p.Arg2738Gln)
NM_005045.4(RELN):c.8217G>C (p.Glu2739Asp)
NM_005045.4(RELN):c.8239C>A (p.Leu2747Met) rs775082646
NM_005045.4(RELN):c.8261T>G (p.Ile2754Ser) rs771681966
NM_005045.4(RELN):c.8306T>C (p.Ile2769Thr)
NM_005045.4(RELN):c.8378G>A (p.Cys2793Tyr) rs774015567
NM_005045.4(RELN):c.8389G>A (p.Asp2797Asn)
NM_005045.4(RELN):c.8411T>C (p.Val2804Ala) rs192835206
NM_005045.4(RELN):c.8446T>C (p.Trp2816Arg)
NM_005045.4(RELN):c.8470C>T (p.Pro2824Ser)
NM_005045.4(RELN):c.8490-3T>C rs373564931
NM_005045.4(RELN):c.8614A>G (p.Ile2872Val) rs765151646
NM_005045.4(RELN):c.8624C>T (p.Pro2875Leu)
NM_005045.4(RELN):c.8651T>C (p.Leu2884Ser)
NM_005045.4(RELN):c.8656C>T (p.His2886Tyr)
NM_005045.4(RELN):c.8667+6G>C
NM_005045.4(RELN):c.8668-9_8668-5del
NM_005045.4(RELN):c.8710G>T (p.Asp2904Tyr)
NM_005045.4(RELN):c.8729A>G (p.Glu2910Gly)
NM_005045.4(RELN):c.8795C>A (p.Ser2932Tyr)
NM_005045.4(RELN):c.8798C>T (p.Thr2933Ile) rs201656873
NM_005045.4(RELN):c.8809G>A (p.Ala2937Thr)
NM_005045.4(RELN):c.8810C>T (p.Ala2937Val) rs765433534
NM_005045.4(RELN):c.8839G>A (p.Ala2947Thr) rs141307064
NM_005045.4(RELN):c.8911C>T (p.Arg2971Trp)
NM_005045.4(RELN):c.8912G>A (p.Arg2971Gln)
NM_005045.4(RELN):c.9005G>C (p.Arg3002Thr)
NM_005045.4(RELN):c.9009C>G (p.His3003Gln)
NM_005045.4(RELN):c.9030_9032del (p.Glu3010del)
NM_005045.4(RELN):c.9053G>A (p.Arg3018Gln)
NM_005045.4(RELN):c.9053G>T (p.Arg3018Leu)
NM_005045.4(RELN):c.9076G>A (p.Val3026Met)
NM_005045.4(RELN):c.9109G>C (p.Glu3037Gln) rs142059680
NM_005045.4(RELN):c.9172T>A (p.Leu3058Met)
NM_005045.4(RELN):c.9205C>A (p.His3069Asn)
NM_005045.4(RELN):c.9220A>T (p.Ser3074Cys) rs774630932
NM_005045.4(RELN):c.9295_9297AAG[1] (p.Lys3100del) rs762015967
NM_005045.4(RELN):c.9329G>A (p.Arg3110Gln) rs368572382
NM_005045.4(RELN):c.9347C>T (p.Pro3116Leu)
NM_005045.4(RELN):c.9406C>G (p.Leu3136Val) rs767535167
NM_005045.4(RELN):c.9439G>T (p.Ala3147Ser)
NM_005045.4(RELN):c.9446C>T (p.Ser3149Leu) rs773908055
NM_005045.4(RELN):c.9459G>C (p.Gln3153His) rs1554362509
NM_005045.4(RELN):c.9463G>A (p.Val3155Ile) rs769668891
NM_005045.4(RELN):c.9478C>G (p.Leu3160Val) rs185075003
NM_005045.4(RELN):c.9505T>G (p.Cys3169Gly) rs1394617861
NM_005045.4(RELN):c.9605+6T>A rs376881823
NM_005045.4(RELN):c.9606-3C>T rs376550183
NM_005045.4(RELN):c.9643A>G (p.Thr3215Ala)
NM_005045.4(RELN):c.9664A>G (p.Ile3222Val) rs142638365
NM_005045.4(RELN):c.9669C>G (p.Asp3223Glu) rs1442238479
NM_005045.4(RELN):c.9689C>T (p.Ala3230Val)
NM_005045.4(RELN):c.9709G>A (p.Gly3237Arg) rs1584222460
NM_005045.4(RELN):c.9725C>T (p.Thr3242Met) rs763717800
NM_005045.4(RELN):c.9730G>C (p.Gly3244Arg)
NM_005045.4(RELN):c.9751G>A (p.Glu3251Lys) rs376520049
NM_005045.4(RELN):c.9753G>C (p.Glu3251Asp) rs756854888
NM_005045.4(RELN):c.9790G>A (p.Asp3264Asn) rs770064368
NM_005045.4(RELN):c.9796C>T (p.Pro3266Ser) rs544906913
NM_005045.4(RELN):c.9826G>A (p.Ala3276Thr)
NM_005045.4(RELN):c.9832G>C (p.Val3278Leu)
NM_005045.4(RELN):c.9838G>A (p.Glu3280Lys)
NM_005045.4(RELN):c.9962C>G (p.Pro3321Arg)
NM_005045.4(RELN):c.9991A>G (p.Met3331Val) rs1554360669

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