List of variants in gene RELN reported as uncertain significance for Inborn genetic diseases

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: 102

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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.5822T>C (p.Val1941Ala)	rs149837553	0.00041
NM_005045.4(RELN):c.6166C>T (p.Pro2056Ser)	rs200409290	0.00038
NM_005045.4(RELN):c.877G>A (p.Asp293Asn)	rs200289289	0.00033
NM_005045.4(RELN):c.5225G>A (p.Arg1742Gln)	rs199553777	0.00031
NM_005045.4(RELN):c.5668A>G (p.Ile1890Val)	rs147026512	0.00031
NM_005045.4(RELN):c.1231C>A (p.Leu411Ile)	rs144978163	0.00021
NM_005045.4(RELN):c.2125A>G (p.Met709Val)	rs114577182	0.00018
NM_005045.4(RELN):c.1013T>G (p.Val338Gly)	rs200513558	0.00014
NM_005045.4(RELN):c.7634C>T (p.Ala2545Val)	rs116634494	0.00014
NM_005045.4(RELN):c.1708C>G (p.His570Asp)	rs374546580	0.00013
NM_005045.4(RELN):c.5969C>T (p.Pro1990Leu)	rs149473868	0.00013
NM_005045.4(RELN):c.113T>A (p.Phe38Tyr)	rs149715692	0.00012
NM_005045.4(RELN):c.7268G>A (p.Arg2423His)	rs140660860	0.00012
NM_005045.4(RELN):c.4843G>C (p.Asp1615His)	rs375040526	0.00009
NM_005045.4(RELN):c.5935G>A (p.Gly1979Ser)	rs139892362	0.00008
NM_005045.4(RELN):c.1669T>G (p.Phe557Val)	rs757726526	0.00006
NM_005045.4(RELN):c.3191C>G (p.Ala1064Gly)	rs565236668	0.00006
NM_005045.4(RELN):c.6031C>T (p.Arg2011Cys)	rs374628146	0.00006
NM_005045.4(RELN):c.6170T>G (p.Leu2057Arg)	rs138909076	0.00006
NM_005045.4(RELN):c.6169C>G (p.Leu2057Val)	rs764185528	0.00004
NM_005045.4(RELN):c.7339C>G (p.Pro2447Ala)	rs371476408	0.00004
NM_005045.4(RELN):c.7757C>T (p.Thr2586Ile)	rs202172902	0.00004
NM_005045.4(RELN):c.6079G>A (p.Val2027Ile)	rs753782715	0.00003
NM_005045.4(RELN):c.850G>A (p.Val284Met)	rs149397714	0.00003
NM_005045.4(RELN):c.1936C>T (p.Arg646Trp)	rs115831287	0.00002
NM_005045.4(RELN):c.2260C>T (p.Arg754Trp)	rs759711654	0.00002
NM_005045.4(RELN):c.2566A>G (p.Ile856Val)	rs371309082	0.00002
NM_005045.4(RELN):c.3287A>G (p.Gln1096Arg)	rs780325204	0.00002
NM_005045.4(RELN):c.3952C>G (p.Pro1318Ala)	rs140090640	0.00002
NM_005045.4(RELN):c.4649A>T (p.Asp1550Val)	rs781465325	0.00002
NM_005045.4(RELN):c.5005A>C (p.Ser1669Arg)	rs1481028795	0.00002
NM_005045.4(RELN):c.6106G>A (p.Ala2036Thr)	rs371614773	0.00002
NM_005045.4(RELN):c.1532C>T (p.Thr511Ile)	rs372928932	0.00001
NM_005045.4(RELN):c.1588G>A (p.Glu530Lys)	rs745368912	0.00001
NM_005045.4(RELN):c.1796G>A (p.Arg599His)	rs201371180	0.00001
NM_005045.4(RELN):c.2053A>G (p.Thr685Ala)	rs779358126	0.00001
NM_005045.4(RELN):c.2332A>G (p.Ser778Gly)	rs765589329	0.00001
NM_005045.4(RELN):c.293T>C (p.Val98Ala)	rs1471699014	0.00001
NM_005045.4(RELN):c.340A>G (p.Ile114Val)	rs886061863	0.00001
NM_005045.4(RELN):c.4441A>G (p.Lys1481Glu)	rs896069835	0.00001
NM_005045.4(RELN):c.4907A>G (p.Asp1636Gly)	rs587780439	0.00001
NM_005045.4(RELN):c.5227T>C (p.Phe1743Leu)	rs773427684	0.00001
NM_005045.4(RELN):c.5300G>A (p.Gly1767Glu)	rs766384576	0.00001
NM_005045.4(RELN):c.5377T>G (p.Tyr1793Asp)	rs760957004	0.00001
NM_005045.4(RELN):c.589A>G (p.Ser197Gly)	rs756193988	0.00001
NM_005045.4(RELN):c.6164T>C (p.Leu2055Pro)	rs1190177632	0.00001
NM_005045.4(RELN):c.6512A>G (p.Asp2171Gly)	rs754745320	0.00001
NM_005045.4(RELN):c.103C>T (p.Pro35Ser)
NM_005045.4(RELN):c.1141A>C (p.Lys381Gln)
NM_005045.4(RELN):c.164T>C (p.Val55Ala)
NM_005045.4(RELN):c.1948A>G (p.Ile650Val)
NM_005045.4(RELN):c.1985T>C (p.Met662Thr)
NM_005045.4(RELN):c.2125A>T (p.Met709Leu)	rs114577182
NM_005045.4(RELN):c.2156G>C (p.Arg719Thr)
NM_005045.4(RELN):c.2249A>G (p.Asn750Ser)
NM_005045.4(RELN):c.2268G>C (p.Gln756His)
NM_005045.4(RELN):c.2359G>T (p.Ala787Ser)	rs1254113534
NM_005045.4(RELN):c.2368C>G (p.Gln790Glu)	rs1554395167
NM_005045.4(RELN):c.2461C>T (p.Pro821Ser)	rs988934092
NM_005045.4(RELN):c.2534A>G (p.Tyr845Cys)
NM_005045.4(RELN):c.2557G>A (p.Val853Ile)	rs1832418242
NM_005045.4(RELN):c.2734A>G (p.Met912Val)
NM_005045.4(RELN):c.2777A>G (p.Tyr926Cys)
NM_005045.4(RELN):c.2834A>G (p.Asp945Gly)
NM_005045.4(RELN):c.3104A>G (p.Asn1035Ser)
NM_005045.4(RELN):c.3164A>C (p.Gln1055Pro)
NM_005045.4(RELN):c.3272T>C (p.Ile1091Thr)
NM_005045.4(RELN):c.3500T>C (p.Leu1167Pro)
NM_005045.4(RELN):c.3541T>C (p.Phe1181Leu)
NM_005045.4(RELN):c.3541T>G (p.Phe1181Val)	rs773320636
NM_005045.4(RELN):c.3581G>T (p.Cys1194Phe)
NM_005045.4(RELN):c.3745A>G (p.Met1249Val)	rs148751867
NM_005045.4(RELN):c.3815C>T (p.Ala1272Val)	rs375784624
NM_005045.4(RELN):c.3955_3957dup (p.Val1319dup)	rs1831367827
NM_005045.4(RELN):c.4340A>G (p.His1447Arg)
NM_005045.4(RELN):c.4630C>G (p.His1544Asp)
NM_005045.4(RELN):c.4681T>C (p.Ser1561Pro)
NM_005045.4(RELN):c.4838C>T (p.Ser1613Phe)	rs201945386
NM_005045.4(RELN):c.4924A>G (p.Thr1642Ala)
NM_005045.4(RELN):c.5038C>A (p.His1680Asn)	rs773182967
NM_005045.4(RELN):c.5089G>A (p.Val1697Ile)
NM_005045.4(RELN):c.5239C>G (p.Gln1747Glu)
NM_005045.4(RELN):c.5247C>A (p.Asn1749Lys)
NM_005045.4(RELN):c.5360G>A (p.Arg1787Gln)	rs372887562
NM_005045.4(RELN):c.545-3C>T
NM_005045.4(RELN):c.5656A>G (p.Ile1886Val)
NM_005045.4(RELN):c.5995G>A (p.Val1999Ile)	rs1830457350
NM_005045.4(RELN):c.6058A>G (p.Ile2020Val)
NM_005045.4(RELN):c.6190C>G (p.His2064Asp)	rs767258528
NM_005045.4(RELN):c.653T>C (p.Ile218Thr)
NM_005045.4(RELN):c.6775A>G (p.Ser2259Gly)
NM_005045.4(RELN):c.712A>G (p.Asn238Asp)
NM_005045.4(RELN):c.7366T>C (p.Phe2456Leu)
NM_005045.4(RELN):c.7369C>T (p.Arg2457Cys)
NM_005045.4(RELN):c.7605C>A (p.Asn2535Lys)	rs750764421
NM_005045.4(RELN):c.8077G>A (p.Gly2693Arg)
NM_005045.4(RELN):c.8083A>T (p.Ile2695Phe)
NM_005045.4(RELN):c.820C>T (p.Arg274Cys)
NM_005045.4(RELN):c.844A>T (p.Ile282Phe)

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