List of variants in gene RELN reported as uncertain significance by GeneDx

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 98

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HGVS	dbSNP	gnomAD frequency
NM_005045.4(RELN):c.5961G>T (p.Lys1987Asn)	rs143948239	0.00057
NM_005045.4(RELN):c.139G>A (p.Glu47Lys)	rs139648092	0.00047
NM_005045.4(RELN):c.6520G>A (p.Glu2174Lys)	rs146877597	0.00043
NM_005045.4(RELN):c.6166C>T (p.Pro2056Ser)	rs200409290	0.00038
NM_005045.4(RELN):c.1483A>G (p.Ile495Val)	rs150850005	0.00034
NM_005045.4(RELN):c.5095G>A (p.Glu1699Lys)	rs147657490	0.00032
NM_005045.4(RELN):c.2954C>G (p.Ala985Gly)	rs138598422	0.00025
NM_005045.4(RELN):c.1108G>C (p.Gly370Arg)	rs143050366	0.00024
NM_005045.4(RELN):c.4872A>G (p.Gln1624=)	rs149121159	0.00024
NM_005045.4(RELN):c.59C>T (p.Thr20Met)	rs145135688	0.00024
NM_005045.4(RELN):c.6278A>C (p.His2093Pro)	rs149152189	0.00024
NM_005045.4(RELN):c.6458G>A (p.Gly2153Asp)	rs144387303	0.00022
NM_005045.4(RELN):c.6647G>A (p.Arg2216Gln)	rs200010849	0.00017
NM_005045.4(RELN):c.2015C>T (p.Pro672Leu)	rs201044262	0.00016
NM_005045.4(RELN):c.4893C>G (p.Asp1631Glu)	rs201296719	0.00014
NM_005045.4(RELN):c.7634C>T (p.Ala2545Val)	rs116634494	0.00014
NM_005045.4(RELN):c.5969C>T (p.Pro1990Leu)	rs149473868	0.00013
NM_005045.4(RELN):c.5019C>A (p.Ser1673Arg)	rs370258062	0.00012
NM_005045.4(RELN):c.1655T>C (p.Val552Ala)	rs144116037	0.00010
NM_005045.4(RELN):c.4495G>C (p.Asp1499His)	rs200428576	0.00009
NM_005045.4(RELN):c.8005G>A (p.Val2669Ile)	rs375985673	0.00009
NM_005045.4(RELN):c.5194C>T (p.Leu1732Phe)	rs755485060	0.00006
NM_005045.4(RELN):c.6031C>T (p.Arg2011Cys)	rs374628146	0.00006
NM_005045.4(RELN):c.7036G>A (p.Val2346Met)	rs201788015	0.00006
NM_005045.4(RELN):c.718G>A (p.Val240Ile)	rs375141725	0.00006
NM_005045.4(RELN):c.3086T>C (p.Ile1029Thr)	rs757915171	0.00005
NM_005045.4(RELN):c.185C>T (p.Ala62Val)	rs756018749	0.00004
NM_005045.4(RELN):c.65G>T (p.Arg22Met)	rs139532757	0.00004
NM_005045.4(RELN):c.7757C>T (p.Thr2586Ile)	rs202172902	0.00004
NM_005045.4(RELN):c.2252A>C (p.Lys751Thr)	rs116504075	0.00003
NM_005045.4(RELN):c.2789T>C (p.Phe930Ser)	rs747512816	0.00003
NM_005045.4(RELN):c.5023C>G (p.Pro1675Ala)	rs770657475	0.00003
NM_005045.4(RELN):c.7568A>G (p.Asn2523Ser)	rs561828305	0.00003
NM_005045.4(RELN):c.914A>G (p.Asn305Ser)	rs150372878	0.00003
NM_005045.4(RELN):c.1880A>G (p.Glu627Gly)	rs779007436	0.00002
NM_005045.4(RELN):c.2440T>C (p.Ser814Pro)	rs764681189	0.00002
NM_005045.4(RELN):c.4649A>T (p.Asp1550Val)	rs781465325	0.00002
NM_005045.4(RELN):c.6072+3A>G	rs762092040	0.00002
NM_005045.4(RELN):c.1189G>A (p.Glu397Lys)	rs1554402135	0.00001
NM_005045.4(RELN):c.1517A>T (p.His506Leu)	rs375542264	0.00001
NM_005045.4(RELN):c.1846C>T (p.Pro616Ser)	rs1460850066	0.00001
NM_005045.4(RELN):c.188G>A (p.Gly63Asp)	rs1085307660	0.00001
NM_005045.4(RELN):c.1975C>A (p.Leu659Ile)	rs199851352	0.00001
NM_005045.4(RELN):c.2332A>G (p.Ser778Gly)	rs765589329	0.00001
NM_005045.4(RELN):c.2737C>T (p.Arg913Cys)	rs771172788	0.00001
NM_005045.4(RELN):c.3412G>A (p.Gly1138Arg)	rs772114071	0.00001
NM_005045.4(RELN):c.4006G>C (p.Glu1336Gln)	rs758828226	0.00001
NM_005045.4(RELN):c.4075A>G (p.Met1359Val)	rs772573526	0.00001
NM_005045.4(RELN):c.4457A>G (p.Asn1486Ser)	rs202161592	0.00001
NM_005045.4(RELN):c.4484C>T (p.Thr1495Met)	rs369404310	0.00001
NM_005045.4(RELN):c.4904T>G (p.Met1635Arg)	rs779701633	0.00001
NM_005045.4(RELN):c.4907A>G (p.Asp1636Gly)	rs587780439	0.00001
NM_005045.4(RELN):c.5067C>A (p.Asn1689Lys)	rs1030981974	0.00001
NM_005045.4(RELN):c.5747C>G (p.Thr1916Ser)	rs1223552734	0.00001
NM_005045.4(RELN):c.6310C>T (p.Arg2104Cys)	rs758883183	0.00001
NM_005045.4(RELN):c.6770C>T (p.Ser2257Leu)	rs773832988	0.00001
NM_005045.4(RELN):c.7070T>C (p.Ile2357Thr)	rs770986138	0.00001
NM_005045.4(RELN):c.7571G>A (p.Arg2524Gln)	rs777611799	0.00001
NM_005045.4(RELN):c.1025G>T (p.Cys342Phe)
NM_005045.4(RELN):c.1237A>G (p.Thr413Ala)	rs1554402130
NM_005045.4(RELN):c.1247T>C (p.Ile416Thr)	rs2115695607
NM_005045.4(RELN):c.2066G>A (p.Cys689Tyr)	rs2117362100
NM_005045.4(RELN):c.2125A>T (p.Met709Leu)	rs114577182
NM_005045.4(RELN):c.2158C>G (p.Leu720Val)	rs1554395337
NM_005045.4(RELN):c.2465G>A (p.Arg822Lys)
NM_005045.4(RELN):c.2722C>A (p.Leu908Ile)	rs767519770
NM_005045.4(RELN):c.2846A>C (p.Lys949Thr)	rs1237046940
NM_005045.4(RELN):c.2975G>A (p.Arg992Lys)	rs1831932455
NM_005045.4(RELN):c.3333+3A>G
NM_005045.4(RELN):c.3541T>G (p.Phe1181Val)	rs773320636
NM_005045.4(RELN):c.3655A>G (p.Ile1219Val)	rs1057524179
NM_005045.4(RELN):c.3806_3808del (p.Phe1269del)	rs1232618042
NM_005045.4(RELN):c.3928G>A (p.Ala1310Thr)	rs1831368591
NM_005045.4(RELN):c.4167C>G (p.Ile1389Met)	rs1554382349
NM_005045.4(RELN):c.4503G>T (p.Arg1501Ser)
NM_005045.4(RELN):c.48G>T (p.Leu16Phe)
NM_005045.4(RELN):c.4921T>C (p.Phe1641Leu)	rs2117188147
NM_005045.4(RELN):c.5086C>G (p.Leu1696Val)
NM_005045.4(RELN):c.5150A>G (p.Tyr1717Cys)
NM_005045.4(RELN):c.5474G>C (p.Arg1825Thr)	rs368478306
NM_005045.4(RELN):c.5678A>C (p.His1893Pro)	rs2117168025
NM_005045.4(RELN):c.5906A>G (p.Asn1969Ser)
NM_005045.4(RELN):c.601A>G (p.Ile201Val)
NM_005045.4(RELN):c.6077A>C (p.Asn2026Thr)	rs1830405923
NM_005045.4(RELN):c.656+3_656+30dup	rs749024958
NM_005045.4(RELN):c.6603C>A (p.Asn2201Lys)	rs1830202355
NM_005045.4(RELN):c.6832C>G (p.Leu2278Val)
NM_005045.4(RELN):c.6842C>G (p.Pro2281Arg)	rs780950214
NM_005045.4(RELN):c.6941G>A (p.Gly2314Glu)	rs2117127104
NM_005045.4(RELN):c.6976G>A (p.Asp2326Asn)	rs768054802
NM_005045.4(RELN):c.7159T>C (p.Ser2387Pro)
NM_005045.4(RELN):c.7205A>G (p.Asp2402Gly)	rs1554373017
NM_005045.4(RELN):c.7336C>G (p.Pro2446Ala)
NM_005045.4(RELN):c.7595T>C (p.Leu2532Pro)	rs1064796697
NM_005045.4(RELN):c.7867G>A (p.Val2623Met)	rs2117076560
NM_005045.4(RELN):c.8024G>A (p.Ser2675Asn)	rs1554368317
NM_005045.4(RELN):c.8053T>C (p.Ser2685Pro)	rs766349515
NM_005045.4(RELN):c.925ATC[1] (p.Ile310del)	rs1554404031

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