List of variants in gene PSMB8 reported as uncertain significance for autosomal recessive disease

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: 103

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HGVS	dbSNP	gnomAD frequency
NM_148919.4(PSMB8):c.*8G>A	rs376750959	0.00074
NM_148919.4(PSMB8):c.701A>G (p.Tyr234Cys)	rs55853041	0.00071
NM_148919.4(PSMB8):c.*6G>C	rs371747700	0.00029
NM_148919.4(PSMB8):c.662C>T (p.Pro221Leu)	rs141273371	0.00015
NM_148919.4(PSMB8):c.804G>A (p.Leu268=)	rs371969268	0.00015
NM_148919.4(PSMB8):c.670G>T (p.Ala224Ser)	rs114636648	0.00014
NM_148919.4(PSMB8):c.386G>A (p.Arg129His)	rs369078226	0.00007
NM_148919.4(PSMB8):c.575G>A (p.Arg192Gln)	rs764672057	0.00007
NM_148919.4(PSMB8):c.731G>A (p.Gly244Asp)	rs200995701	0.00007
NM_148919.4(PSMB8):c.240C>G (p.Phe80Leu)	rs529946385	0.00006
NM_148919.4(PSMB8):c.666A>C (p.Glu222Asp)	rs754578419	0.00006
NM_148919.4(PSMB8):c.633G>A (p.Met211Ile)	rs137937891	0.00005
NM_148919.4(PSMB8):c.229G>A (p.Ala77Thr)	rs774341327	0.00004
NM_148919.4(PSMB8):c.487C>T (p.Arg163Trp)	rs55835906	0.00004
NM_148919.4(PSMB8):c.574C>T (p.Arg192Trp)	rs752232985	0.00004
NM_148919.4(PSMB8):c.814C>T (p.Arg272Trp)	rs371006338	0.00004
NM_148919.4(PSMB8):c.*231C>T	rs539015992	0.00003
NM_148919.4(PSMB8):c.272G>A (p.Arg91Gln)	rs780859553	0.00003
NM_148919.4(PSMB8):c.100A>G (p.Ser34Gly)	rs558277593	0.00002
NM_148919.4(PSMB8):c.137G>A (p.Arg46Gln)	rs758313787	0.00002
NM_148919.4(PSMB8):c.154G>A (p.Glu52Lys)	rs779815259	0.00002
NM_148919.4(PSMB8):c.193G>A (p.Val65Ile)	rs940695600	0.00002
NM_148919.4(PSMB8):c.304C>T (p.Arg102Trp)	rs1402857650	0.00002
NM_148919.4(PSMB8):c.556G>A (p.Val186Met)	rs78945358	0.00002
NM_148919.4(PSMB8):c.600G>A (p.Thr200=)	rs777265725	0.00002
NM_148919.4(PSMB8):c.733G>A (p.Val245Ile)	rs746897143	0.00002
NM_148919.4(PSMB8):c.*178G>A	rs886061309	0.00001
NM_148919.4(PSMB8):c.*57C>T	rs1371496516	0.00001
NM_148919.4(PSMB8):c.180C>T (p.Asp60=)	rs757858465	0.00001
NM_148919.4(PSMB8):c.181G>A (p.Gly61Arg)	rs1007524117	0.00001
NM_148919.4(PSMB8):c.191A>T (p.Asn64Ile)	rs140150936	0.00001
NM_148919.4(PSMB8):c.271C>T (p.Arg91Trp)	rs201142158	0.00001
NM_148919.4(PSMB8):c.316G>A (p.Val106Met)	rs1254158106	0.00001
NM_148919.4(PSMB8):c.351G>A (p.Met117Ile)	rs754243092	0.00001
NM_148919.4(PSMB8):c.371G>C (p.Cys124Ser)	rs767636318	0.00001
NM_148919.4(PSMB8):c.385C>T (p.Arg129Cys)	rs757343575	0.00001
NM_148919.4(PSMB8):c.422G>A (p.Arg141Gln)	rs1181818643	0.00001
NM_148919.4(PSMB8):c.451G>A (p.Ala151Thr)	rs749800130	0.00001
NM_148919.4(PSMB8):c.470A>G (p.Asn157Ser)	rs372030309	0.00001
NM_148919.4(PSMB8):c.492C>T (p.Gly164=)	rs369474146	0.00001
NM_148919.4(PSMB8):c.493A>G (p.Met165Val)	rs747199589	0.00001
NM_148919.4(PSMB8):c.686G>A (p.Arg229His)	rs547653681	0.00001
NM_148919.4(PSMB8):c.695T>C (p.Ile232Thr)	rs767937121	0.00001
NM_148919.4(PSMB8):c.710A>G (p.His237Arg)	rs1361855322	0.00001
NM_148919.4(PSMB8):c.755A>C (p.Lys252Thr)	rs1582602825	0.00001
NM_148919.4(PSMB8):c.*116C>T	rs56138642
NM_148919.4(PSMB8):c.-35C>T	rs886061311
NM_148919.4(PSMB8):c.103T>G (p.Phe35Val)
NM_148919.4(PSMB8):c.127G>T (p.Ala43Ser)	rs780017925
NM_148919.4(PSMB8):c.133C>A (p.Pro45Thr)	rs776484021
NM_148919.4(PSMB8):c.134C>G (p.Pro45Arg)
NM_148919.4(PSMB8):c.139G>A (p.Gly47Arg)
NM_148919.4(PSMB8):c.144G>A (p.Met48Ile)	rs2127380153
NM_148919.4(PSMB8):c.148-10_148-6del	rs1562352647
NM_148919.4(PSMB8):c.151A>C (p.Thr51Pro)	rs2127378839
NM_148919.4(PSMB8):c.167C>A (p.Ser56Tyr)	rs886061310
NM_148919.4(PSMB8):c.167_168delinsGT (p.Ser56Cys)	rs1562352512
NM_148919.4(PSMB8):c.170T>C (p.Leu57Pro)	rs1770032427
NM_148919.4(PSMB8):c.188G>A (p.Arg63Lys)	rs1770030436
NM_148919.4(PSMB8):c.212A>G (p.His71Arg)
NM_148919.4(PSMB8):c.218C>T (p.Thr73Ile)
NM_148919.4(PSMB8):c.26C>T (p.Ala9Val)	rs1770128124
NM_148919.4(PSMB8):c.274G>C (p.Ala92Pro)
NM_148919.4(PSMB8):c.284G>T (p.Gly95Val)
NM_148919.4(PSMB8):c.287C>A (p.Ser96Tyr)
NM_148919.4(PSMB8):c.293T>G (p.Ile98Ser)	rs753139724
NM_148919.4(PSMB8):c.295A>G (p.Ser99Gly)	rs1381795628
NM_148919.4(PSMB8):c.306_307delinsAA (p.Val103Met)	rs371826956
NM_148919.4(PSMB8):c.331C>A (p.Pro111Thr)	rs1769997640
NM_148919.4(PSMB8):c.350T>C (p.Met117Thr)	rs1769996135
NM_148919.4(PSMB8):c.35G>T (p.Gly12Val)	rs1770125566
NM_148919.4(PSMB8):c.360T>G (p.Cys120Trp)	rs2127378014
NM_148919.4(PSMB8):c.367G>A (p.Asp123Asn)	rs1769994178
NM_148919.4(PSMB8):c.386G>T (p.Arg129Leu)	rs369078226
NM_148919.4(PSMB8):c.408G>A (p.Arg136=)
NM_148919.4(PSMB8):c.430G>A (p.Glu144Lys)	rs1769955269
NM_148919.4(PSMB8):c.467C>T (p.Ser156Phe)
NM_148919.4(PSMB8):c.515T>C (p.Met172Thr)	rs756049842
NM_148919.4(PSMB8):c.517A>G (p.Ile173Val)	rs1582605795
NM_148919.4(PSMB8):c.544G>A (p.Gly182Arg)	rs1769920763
NM_148919.4(PSMB8):c.562G>A (p.Glu188Lys)	rs1012282076
NM_148919.4(PSMB8):c.625G>A (p.Gly209Arg)	rs1202502842
NM_148919.4(PSMB8):c.625G>C (p.Gly209Arg)	rs1202502842
NM_148919.4(PSMB8):c.646C>T (p.Arg216Trp)
NM_148919.4(PSMB8):c.647G>A (p.Arg216Gln)
NM_148919.4(PSMB8):c.685C>T (p.Arg229Cys)
NM_148919.4(PSMB8):c.694A>C (p.Ile232Leu)
NM_148919.4(PSMB8):c.715G>A (p.Asp239Asn)	rs1554238810
NM_148919.4(PSMB8):c.727G>A (p.Gly243Arg)	rs2127376068
NM_148919.4(PSMB8):c.730G>A (p.Gly244Ser)	rs2127376054
NM_148919.4(PSMB8):c.731G>T (p.Gly244Val)	rs200995701
NM_148919.4(PSMB8):c.743-5C>T
NM_148919.4(PSMB8):c.759A>C (p.Glu253Asp)
NM_148919.4(PSMB8):c.778_784dup (p.Thr262fs)
NM_148919.4(PSMB8):c.798C>G (p.Asp266Glu)	rs2127375356
NM_148919.4(PSMB8):c.800T>G (p.Leu267Arg)	rs1554238585
NM_148919.4(PSMB8):c.807C>A (p.His269Gln)
NM_148919.4(PSMB8):c.812A>G (p.Tyr271Cys)
NM_148919.4(PSMB8):c.815G>A (p.Arg272Gln)	rs368551668
NM_148919.4(PSMB8):c.826_*1del (p.Gln276fs)
NM_148919.4(PSMB8):c.829_830del (p.Ter277MetextTer?)
NM_148919.4(PSMB8):c.97T>C (p.Tyr33His)
NM_148919.4(PSMB8):c.9_10delinsCG (p.Leu4Val)	rs2127380594

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