ClinVar Miner

List of variants in gene OPTN reported as uncertain significance for amyotrophic lateral sclerosis type 12

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 48
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HGVS dbSNP
NC_000010.11:g.(?_13118878)_(13119050_?)del
NM_001008211.1(OPTN):c.-408G>T
NM_001008211.1(OPTN):c.-453G>T rs886046816
NM_001008212.2(OPTN):c.*1042T>G rs886046827
NM_001008212.2(OPTN):c.*1063C>A rs530046832
NM_001008212.2(OPTN):c.*1089G>A rs758812707
NM_001008212.2(OPTN):c.*1111A>C
NM_001008212.2(OPTN):c.*1251C>G rs542617940
NM_001008212.2(OPTN):c.*1285T>C rs560947786
NM_001008212.2(OPTN):c.*1385T>C rs546352206
NM_001008212.2(OPTN):c.*218G>C rs886046824
NM_001008212.2(OPTN):c.*222G>C
NM_001008212.2(OPTN):c.*306G>A rs538280633
NM_001008212.2(OPTN):c.*335C>T
NM_001008212.2(OPTN):c.*386C>A rs745564491
NM_001008212.2(OPTN):c.*413G>A rs886046825
NM_001008212.2(OPTN):c.*461G>A rs541250740
NM_001008212.2(OPTN):c.*631A>G
NM_001008212.2(OPTN):c.*938C>G rs886046826
NM_001008212.2(OPTN):c.-172G>A
NM_001008212.2(OPTN):c.-184C>G
NM_001008212.2(OPTN):c.-250C>A rs886046818
NM_001008212.2(OPTN):c.-272G>T rs886046817
NM_001008212.2(OPTN):c.1243-9C>A
NM_001008212.2(OPTN):c.1402-3C>G rs1588452749
NM_001008212.2(OPTN):c.1427A>G (p.His476Arg) rs886046821
NM_001008212.2(OPTN):c.1442C>T (p.Ala481Val) rs377219791
NM_001008212.2(OPTN):c.1533-3C>T
NM_001008212.2(OPTN):c.1569G>A (p.Ala523=) rs771316696
NM_001008212.2(OPTN):c.1613G>A (p.Gly538Glu)
NM_001008212.2(OPTN):c.1633C>T (p.Arg545Trp)
NM_001008212.2(OPTN):c.398G>A (p.Arg133Lys)
NM_001008212.2(OPTN):c.403G>A (p.Glu135Lys) rs140599944
NM_001008212.2(OPTN):c.403G>T (p.Glu135Ter) rs140599944
NM_001008212.2(OPTN):c.425A>C (p.Gln142Pro) rs757411888
NM_001008212.2(OPTN):c.441G>A (p.Val147=) rs886046819
NM_001008212.2(OPTN):c.444G>A (p.Val148=) rs780011442
NM_001008212.2(OPTN):c.489A>G (p.Glu163=) rs113811959
NM_001008212.2(OPTN):c.573A>G (p.Ser191=) rs773095721
NM_001008212.2(OPTN):c.605C>T (p.Thr202Met)
NM_001008212.2(OPTN):c.626+4T>C
NM_001008212.2(OPTN):c.682C>T (p.His228Tyr)
NM_001008212.2(OPTN):c.754G>C (p.Val252Leu)
NM_001008212.2(OPTN):c.812G>A (p.Arg271His)
NM_001008212.2(OPTN):c.867G>C (p.Glu289Asp)
NM_001008212.2(OPTN):c.941A>T (p.Gln314Leu) rs142812715
NM_001008212.2(OPTN):c.961A>T (p.Ser321Cys) rs886046820
NM_001008212.2(OPTN):c.963C>T (p.Ser321=) rs150381274

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