ClinVar Miner

List of variants in gene combination GOSR2, LRRC37A2 reported as uncertain significance for Unverricht-Lundborg syndrome

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 58
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HGVS dbSNP
NM_004287.4(GOSR2):c.*1105A>T rs780111337
NM_004287.4(GOSR2):c.*1277C>G rs577505377
NM_004287.4(GOSR2):c.*1377G>A rs180777362
NM_004287.4(GOSR2):c.*1446A>T rs572361575
NM_004287.4(GOSR2):c.*1679A>G rs149765350
NM_004287.4(GOSR2):c.*1703A>G rs144662292
NM_004287.4(GOSR2):c.*18G>T rs778066395
NM_004287.4(GOSR2):c.*2057C>T rs368549324
NM_004287.4(GOSR2):c.*2068C>G rs886053082
NM_004287.4(GOSR2):c.*2190_*2191TC[2] rs553512648
NM_004287.4(GOSR2):c.*2192T>G rs545130658
NM_004287.4(GOSR2):c.*2195C>A rs565638240
NM_004287.4(GOSR2):c.*2213G>T rs886053084
NM_004287.4(GOSR2):c.*2253C>T rs886053085
NM_004287.4(GOSR2):c.*2291C>G rs186093347
NM_004287.4(GOSR2):c.*2336A>T rs569751775
NM_004287.4(GOSR2):c.*2573G>A rs886053086
NM_004287.4(GOSR2):c.*2589T>C rs886053087
NM_004287.4(GOSR2):c.*286G>T rs78693564
NM_004287.4(GOSR2):c.*332A>G rs886053079
NM_004287.4(GOSR2):c.*412C>A rs886053080
NM_004287.4(GOSR2):c.*804A>G rs886053081
NM_004287.4(GOSR2):c.-20T>G rs886053077
NM_004287.4(GOSR2):c.-64G>T rs886053076
NM_004287.4(GOSR2):c.-7C>G rs760018200
NM_004287.4(GOSR2):c.101A>G (p.Glu34Gly)
NM_004287.4(GOSR2):c.128A>G (p.Gln43Arg)
NM_004287.4(GOSR2):c.133T>C (p.Phe45Leu) rs1060500714
NM_004287.4(GOSR2):c.148C>T (p.Arg50Cys) rs143754727
NM_004287.4(GOSR2):c.154G>A (p.Glu52Lys)
NM_004287.4(GOSR2):c.203+3A>G rs201423456
NM_004287.4(GOSR2):c.205C>A (p.Arg69=)
NM_004287.4(GOSR2):c.205C>T (p.Arg69Trp) rs770149230
NM_004287.4(GOSR2):c.22dup (p.Thr8fs) rs746855352
NM_004287.4(GOSR2):c.235C>T (p.His79Tyr) rs1568171907
NM_004287.4(GOSR2):c.246T>C (p.Thr82=) rs141380070
NM_004287.4(GOSR2):c.258C>G (p.Asn86Lys)
NM_004287.4(GOSR2):c.266A>G (p.His89Arg)
NM_004287.4(GOSR2):c.272G>A (p.Arg91His)
NM_004287.4(GOSR2):c.29+13C>T rs747791818
NM_004287.4(GOSR2):c.331A>G (p.Thr111Ala)
NM_004287.4(GOSR2):c.336+9G>A rs200210055
NM_004287.4(GOSR2):c.350C>T (p.Thr117Ile)
NM_004287.4(GOSR2):c.358A>G (p.Met120Val) rs769454681
NM_004287.4(GOSR2):c.363C>T (p.Asp121=) rs886053078
NM_004287.4(GOSR2):c.404A>G (p.Asn135Ser) rs765513191
NM_004287.4(GOSR2):c.40G>A (p.Glu14Lys) rs113817924
NM_004287.4(GOSR2):c.47A>C (p.Gln16Pro)
NM_004287.4(GOSR2):c.509A>G (p.Asn170Ser) rs150907052
NM_004287.4(GOSR2):c.541C>G (p.Leu181Val) rs772342696
NM_004287.4(GOSR2):c.557_584del (p.Ala186fs) rs796052541
NM_004287.4(GOSR2):c.57G>A (p.Met19Ile) rs369247929
NM_004287.4(GOSR2):c.619G>A (p.Val207Met) rs780839289
NM_004287.4(GOSR2):c.636A>G (p.Thr212=) rs990159762
NM_004287.4(GOSR2):c.637T>C (p.Ter213Arg)
NM_004287.4(GOSR2):c.68A>G (p.Glu23Gly) rs200071814
NM_004287.4(GOSR2):c.71C>T (p.Thr24Met)
NM_004287.4(GOSR2):c.77A>G (p.Asp26Gly) rs773543394

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