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

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: 158

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HGVS	dbSNP	gnomAD frequency
NM_001008212.2(OPTN):c.*1063C>A	rs530046832	0.00131
NM_001008212.2(OPTN):c.489A>G (p.Glu163=)	rs113811959	0.00108
NM_001008212.2(OPTN):c.*461G>A	rs541250740	0.00081
NM_001008212.2(OPTN):c.*1285T>C	rs560947786	0.00057
NM_001008212.2(OPTN):c.1396G>T (p.Ala466Ser)	rs144466778	0.00034
NM_001008212.2(OPTN):c.*1385T>C	rs546352206	0.00017
NM_001008212.2(OPTN):c.*413G>A	rs886046825	0.00017
NM_001008212.2(OPTN):c.403G>A (p.Glu135Lys)	rs140599944	0.00014
NM_001008212.2(OPTN):c.1401+4A>G	rs371470839	0.00009
NM_001008212.2(OPTN):c.941A>T (p.Gln314Leu)	rs142812715	0.00007
NM_001008212.2(OPTN):c.*218G>C	rs886046824	0.00006
NM_001008212.2(OPTN):c.573A>G (p.Ser191=)	rs773095721	0.00006
NM_001008212.2(OPTN):c.619A>G (p.Thr207Ala)	rs750995656	0.00006
NM_001008212.2(OPTN):c.*1089G>A	rs758812707	0.00005
NM_001008212.2(OPTN):c.*1251C>G	rs542617940	0.00004
NM_001008212.2(OPTN):c.1442C>T (p.Ala481Val)	rs377219791	0.00004
NM_001008212.2(OPTN):c.1588C>A (p.Gln530Lys)	rs759605171	0.00004
NM_001008212.2(OPTN):c.1618G>C (p.Glu540Gln)	rs577097767	0.00004
NM_001008212.2(OPTN):c.425A>C (p.Gln142Pro)	rs757411888	0.00004
NM_001008212.2(OPTN):c.1533-3C>T	rs373981784	0.00003
NM_001008212.2(OPTN):c.1569G>A (p.Ala523=)	rs771316696	0.00003
NM_001008212.2(OPTN):c.1643G>A (p.Arg548Gln)	rs550042475	0.00003
NM_001008212.2(OPTN):c.799A>G (p.Lys267Glu)	rs780122817	0.00003
NM_001008212.2(OPTN):c.811C>T (p.Arg271Cys)	rs540943401	0.00003
NM_001008212.2(OPTN):c.812G>A (p.Arg271His)	rs201896586	0.00003
NM_001008212.2(OPTN):c.1312G>A (p.Ala438Thr)	rs768591421	0.00002
NM_001008212.2(OPTN):c.1330A>G (p.Met444Val)	rs900961302	0.00002
NM_001008212.2(OPTN):c.1546G>C (p.Glu516Gln)	rs757107215	0.00002
NM_001008212.2(OPTN):c.407C>T (p.Ala136Val)	rs764364218	0.00002
NM_001008212.2(OPTN):c.626+5del	rs776938424	0.00002
NM_001008212.2(OPTN):c.882+3G>A	rs761196996	0.00002
NM_001008212.2(OPTN):c.*1111A>C	rs962236225	0.00001
NM_001008212.2(OPTN):c.*222G>C	rs1451563043	0.00001
NM_001008212.2(OPTN):c.*306G>A	rs538280633	0.00001
NM_001008212.2(OPTN):c.*335C>T	rs1251482519	0.00001
NM_001008212.2(OPTN):c.1174A>G (p.Thr392Ala)	rs751226367	0.00001
NM_001008212.2(OPTN):c.1403T>G (p.Met468Arg)	rs747481280	0.00001
NM_001008212.2(OPTN):c.1490C>G (p.Ala497Gly)	rs956159636	0.00001
NM_001008212.2(OPTN):c.1633C>T (p.Arg545Trp)	rs774245711	0.00001
NM_001008212.2(OPTN):c.398G>A (p.Arg133Lys)	rs1269604352	0.00001
NM_001008212.2(OPTN):c.444G>A (p.Val148=)	rs780011442	0.00001
NM_001008212.2(OPTN):c.481G>A (p.Val161Met)	rs776058639	0.00001
NM_001008212.2(OPTN):c.605C>T (p.Thr202Met)	rs199700857	0.00001
NM_001008212.2(OPTN):c.626+4T>C	rs1564360523	0.00001
NM_001008212.2(OPTN):c.676T>C (p.Phe226Leu)	rs1189662370	0.00001
NM_001008212.2(OPTN):c.682C>T (p.His228Tyr)	rs775448931	0.00001
NM_001008212.2(OPTN):c.867G>C (p.Glu289Asp)	rs143727251	0.00001
NM_001008212.2(OPTN):c.882+5G>C	rs766398912	0.00001
NM_001008212.2(OPTN):c.910C>T (p.Leu304Phe)	rs1833407652	0.00001
NM_001008212.2(OPTN):c.950A>G (p.His317Arg)	rs747365111	0.00001
NC_000010.10:g.(?_13151123)_(13154655_?)dup
NC_000010.10:g.(?_13158247)_(13169923_?)dup
NC_000010.10:g.(?_13160868)_(13161060_?)del
NC_000010.10:g.(?_13160868)_(13161060_?)dup
NC_000010.10:g.(?_13169725)_(13175601_?)del
NC_000010.11:g.(?_13118878)_(13119050_?)del
NM_001008212.2(OPTN):c.*1042T>G	rs886046827
NM_001008212.2(OPTN):c.*386C>A	rs745564491
NM_001008212.2(OPTN):c.*631A>G	rs1833724733
NM_001008212.2(OPTN):c.*938C>G	rs886046826
NM_001008212.2(OPTN):c.1006G>T (p.Ala336Ser)	rs1248850820
NM_001008212.2(OPTN):c.1022A>T (p.Asn341Ile)
NM_001008212.2(OPTN):c.1088T>C (p.Leu363Pro)
NM_001008212.2(OPTN):c.1132A>G (p.Lys378Glu)
NM_001008212.2(OPTN):c.1169A>G (p.Gln390Arg)
NM_001008212.2(OPTN):c.1192C>G (p.Gln398Glu)
NM_001008212.2(OPTN):c.1197_1198inv (p.His400Tyr)
NM_001008212.2(OPTN):c.1220T>C (p.Ile407Thr)
NM_001008212.2(OPTN):c.1229T>C (p.Leu410Pro)
NM_001008212.2(OPTN):c.1242+6C>T	rs906152658
NM_001008212.2(OPTN):c.1243-9C>A	rs1833497674
NM_001008212.2(OPTN):c.1243T>G (p.Ser415Ala)
NM_001008212.2(OPTN):c.1250A>C (p.Lys417Thr)
NM_001008212.2(OPTN):c.1253T>C (p.Val418Ala)
NM_001008212.2(OPTN):c.1298C>T (p.Ala433Val)
NM_001008212.2(OPTN):c.1319A>G (p.Lys440Arg)
NM_001008212.2(OPTN):c.1333G>C (p.Asp445His)
NM_001008212.2(OPTN):c.1339A>G (p.Met447Val)
NM_001008212.2(OPTN):c.1340T>G (p.Met447Arg)	rs1045159479
NM_001008212.2(OPTN):c.1342A>G (p.Lys448Glu)
NM_001008212.2(OPTN):c.1352T>C (p.Ile451Thr)
NM_001008212.2(OPTN):c.1402-3C>G	rs1588452749
NM_001008212.2(OPTN):c.1427A>G (p.His476Arg)	rs886046821
NM_001008212.2(OPTN):c.1447G>C (p.Glu483Gln)	rs2131528196
NM_001008212.2(OPTN):c.1456C>T (p.His486Tyr)
NM_001008212.2(OPTN):c.1457A>G (p.His486Arg)
NM_001008212.2(OPTN):c.1465A>G (p.Lys489Glu)	rs1363384405
NM_001008212.2(OPTN):c.1468G>A (p.Glu490Lys)
NM_001008212.2(OPTN):c.1508A>G (p.Asn503Ser)
NM_001008212.2(OPTN):c.1509T>G (p.Asn503Lys)
NM_001008212.2(OPTN):c.1510G>T (p.Asp504Tyr)
NM_001008212.2(OPTN):c.1556G>A (p.Ser519Asn)
NM_001008212.2(OPTN):c.1558C>T (p.Arg520Cys)
NM_001008212.2(OPTN):c.1558dup (p.Arg520fs)
NM_001008212.2(OPTN):c.1562A>G (p.His521Arg)
NM_001008212.2(OPTN):c.1568C>A (p.Ala523Glu)
NM_001008212.2(OPTN):c.1568C>T (p.Ala523Val)
NM_001008212.2(OPTN):c.1583_1584del (p.Asp527_Ser528insTer)	rs1446908199
NM_001008212.2(OPTN):c.1603G>C (p.Val535Leu)
NM_001008212.2(OPTN):c.1613-1G>A
NM_001008212.2(OPTN):c.1613-3C>T	rs2131534998
NM_001008212.2(OPTN):c.1613G>A (p.Gly538Glu)	rs967459877
NM_001008212.2(OPTN):c.1627_1628delinsCT (p.Asp543Leu)	rs2131535039
NM_001008212.2(OPTN):c.1636C>T (p.Gln546Ter)
NM_001008212.2(OPTN):c.1642C>T (p.Arg548Trp)	rs767360238
NM_001008212.2(OPTN):c.1666C>T (p.Pro556Ser)
NM_001008212.2(OPTN):c.1670A>G (p.Lys557Arg)
NM_001008212.2(OPTN):c.1688C>T (p.Pro563Leu)
NM_001008212.2(OPTN):c.1691A>G (p.Asp564Gly)
NM_001008212.2(OPTN):c.1704A>C (p.Leu568Phe)
NM_001008212.2(OPTN):c.1705C>T (p.Gln569Ter)	rs1275810602
NM_001008212.2(OPTN):c.1714G>A (p.Val572Met)
NM_001008212.2(OPTN):c.1718T>C (p.Met573Thr)	rs1564370960
NM_001008212.2(OPTN):c.1724G>A (p.Cys575Tyr)
NM_001008212.2(OPTN):c.377C>A (p.Thr126Asn)
NM_001008212.2(OPTN):c.385T>C (p.Ser129Pro)	rs369071606
NM_001008212.2(OPTN):c.398G>C (p.Arg133Thr)	rs1269604352
NM_001008212.2(OPTN):c.403G>T (p.Glu135Ter)	rs140599944
NM_001008212.2(OPTN):c.404A>C (p.Glu135Ala)	rs372714385
NM_001008212.2(OPTN):c.412C>A (p.Gln138Lys)
NM_001008212.2(OPTN):c.433A>G (p.Thr145Ala)
NM_001008212.2(OPTN):c.440T>A (p.Val147Glu)
NM_001008212.2(OPTN):c.441G>A (p.Val147=)	rs886046819
NM_001008212.2(OPTN):c.463G>T (p.Ala155Ser)
NM_001008212.2(OPTN):c.475G>C (p.Gly159Arg)
NM_001008212.2(OPTN):c.489A>T (p.Glu163Asp)	rs113811959
NM_001008212.2(OPTN):c.536T>A (p.Val179Asp)
NM_001008212.2(OPTN):c.553-6_553-5delinsGT
NM_001008212.2(OPTN):c.560A>C (p.Glu187Ala)
NM_001008212.2(OPTN):c.568G>A (p.Gly190Arg)
NM_001008212.2(OPTN):c.589C>A (p.His197Asn)
NM_001008212.2(OPTN):c.591T>G (p.His197Gln)
NM_001008212.2(OPTN):c.598G>A (p.Gly200Arg)
NM_001008212.2(OPTN):c.609A>T (p.Arg203Ser)	rs1833208430
NM_001008212.2(OPTN):c.616T>G (p.Ser206Ala)
NM_001008212.2(OPTN):c.617C>T (p.Ser206Phe)
NM_001008212.2(OPTN):c.626C>T (p.Thr209Met)
NM_001008212.2(OPTN):c.635C>A (p.Ser212Tyr)	rs1450047435
NM_001008212.2(OPTN):c.644G>A (p.Arg215Lys)
NM_001008212.2(OPTN):c.669G>T (p.Lys223Asn)
NM_001008212.2(OPTN):c.679G>A (p.Glu227Lys)
NM_001008212.2(OPTN):c.701G>A (p.Ser234Asn)
NM_001008212.2(OPTN):c.754G>C (p.Val252Leu)	rs760339006
NM_001008212.2(OPTN):c.779+8A>G
NM_001008212.2(OPTN):c.779G>A (p.Arg260Lys)
NM_001008212.2(OPTN):c.780-3C>T
NM_001008212.2(OPTN):c.847G>C (p.Glu283Gln)	rs1833371043
NM_001008212.2(OPTN):c.875C>T (p.Pro292Leu)
NM_001008212.2(OPTN):c.882+5G>A
NM_001008212.2(OPTN):c.892G>A (p.Glu298Lys)	rs1833407271
NM_001008212.2(OPTN):c.898G>C (p.Glu300Gln)
NM_001008212.2(OPTN):c.934G>A (p.Glu312Lys)
NM_001008212.2(OPTN):c.949C>G (p.His317Asp)	rs1387105883
NM_001008212.2(OPTN):c.951T>A (p.His317Gln)
NM_001008212.2(OPTN):c.953C>G (p.Thr318Arg)
NM_001008212.2(OPTN):c.961A>T (p.Ser321Cys)	rs886046820
NM_001008212.2(OPTN):c.980A>G (p.Lys327Arg)
NM_001008212.2(OPTN):c.985A>G (p.Arg329Gly)	rs1564364468

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