ClinVar Miner

List of variants in gene FIG4 reported as uncertain significance for Charcot-Marie-Tooth disease type 4

Included ClinVar conditions (25):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 73
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HGVS dbSNP
NM_014845.5(FIG4):c.*150_*151delAT rs886060986
NM_014845.5(FIG4):c.-112G>A rs757848529
NM_014845.5(FIG4):c.-124A>G rs544958043
NM_014845.5(FIG4):c.-132A>G rs548471516
NM_014845.5(FIG4):c.-134C>G rs560811735
NM_014845.5(FIG4):c.-138T>C rs550585093
NM_014845.5(FIG4):c.-84A>G rs764845399
NM_014845.5(FIG4):c.101C>T (p.Thr34Met) rs375691683
NM_014845.5(FIG4):c.1064A>G (p.His355Arg) rs772356514
NM_014845.5(FIG4):c.109C>T (p.Arg37Cys) rs368625871
NM_014845.5(FIG4):c.110G>A (p.Arg37His)
NM_014845.5(FIG4):c.1199A>G (p.Tyr400Cys)
NM_014845.5(FIG4):c.120G>T (p.Lys40Asn)
NM_014845.5(FIG4):c.1272-10C>G rs201293291
NM_014845.5(FIG4):c.1313A>G (p.Glu438Gly)
NM_014845.5(FIG4):c.1338C>G (p.Phe446Leu)
NM_014845.5(FIG4):c.1348C>T (p.Arg450Cys) rs201072058
NM_014845.5(FIG4):c.137C>G (p.Pro46Arg)
NM_014845.5(FIG4):c.1427G>A (p.Arg476His) rs192823053
NM_014845.5(FIG4):c.14C>T (p.Ala5Val) rs915749340
NM_014845.5(FIG4):c.1544T>C (p.Ile515Thr) rs370249754
NM_014845.5(FIG4):c.1752T>A (p.Asp584Glu) rs1060501402
NM_014845.5(FIG4):c.1793T>A (p.Phe598Tyr) rs751399063
NM_014845.5(FIG4):c.1863C>A (p.Thr621=) rs201744761
NM_014845.5(FIG4):c.1877C>T (p.Pro626Leu)
NM_014845.5(FIG4):c.1879A>G (p.Thr627Ala) rs762859144
NM_014845.5(FIG4):c.1940A>G (p.Tyr647Cys) rs150301327
NM_014845.5(FIG4):c.2011A>G (p.Ile671Val) rs1554307877
NM_014845.5(FIG4):c.2036G>A (p.Arg679Gln)
NM_014845.5(FIG4):c.2042A>G (p.Tyr681Cys)
NM_014845.5(FIG4):c.2095C>T (p.Arg699Cys) rs764799053
NM_014845.5(FIG4):c.2096G>A (p.Arg699His) rs750091928
NM_014845.5(FIG4):c.2098G>T (p.Asp700Tyr) rs1554308483
NM_014845.5(FIG4):c.2113A>G (p.Thr705Ala) rs766031746
NM_014845.5(FIG4):c.2146C>T (p.Arg716Cys) rs139235893
NM_014845.5(FIG4):c.2192A>G (p.Asn731Ser) rs1467094847
NM_014845.5(FIG4):c.2200G>A (p.Glu734Lys) rs372846619
NM_014845.5(FIG4):c.2339A>G (p.Lys780Arg) rs373590484
NM_014845.5(FIG4):c.235G>A (p.Gly79Arg) rs886060982
NM_014845.5(FIG4):c.2376+5G>C rs528952794
NM_014845.5(FIG4):c.2377-10T>A rs9481005
NM_014845.5(FIG4):c.243A>G (p.Lys81=) rs200257799
NM_014845.5(FIG4):c.2460-8A>G rs201965891
NM_014845.5(FIG4):c.2460A>C (p.Arg820Ser) rs886060984
NM_014845.5(FIG4):c.2464G>C (p.Val822Leu) rs1208125100
NM_014845.5(FIG4):c.2546+5G>A rs1060501401
NM_014845.5(FIG4):c.2547-11A>G rs745613994
NM_014845.5(FIG4):c.2547-3T>A rs537171532
NM_014845.5(FIG4):c.2547-4A>G rs886060985
NM_014845.5(FIG4):c.2547-5T>G rs200267243
NM_014845.5(FIG4):c.2567C>T (p.Ser856Leu) rs200970494
NM_014845.5(FIG4):c.2568G>T (p.Ser856=) rs140055056
NM_014845.5(FIG4):c.2695C>T (p.Arg899Ter) rs750069994
NM_014845.5(FIG4):c.2704A>G (p.Ile902Val) rs143685038
NM_014845.5(FIG4):c.301T>C (p.Phe101Leu)
NM_014845.5(FIG4):c.328A>G (p.Ile110Val) rs140331779
NM_014845.5(FIG4):c.350C>T (p.Ala117Val) rs551339249
NM_014845.5(FIG4):c.374A>G (p.Tyr125Cys)
NM_014845.5(FIG4):c.3_23dup (p.Pro7_Ile8insMetProThrAlaAlaAlaPro)
NM_014845.5(FIG4):c.414T>A (p.Asp138Glu)
NM_014845.5(FIG4):c.446+3A>G rs201642753
NM_014845.5(FIG4):c.449A>G (p.Tyr150Cys) rs1233666827
NM_014845.5(FIG4):c.50T>C (p.Leu17Pro) rs587777713
NM_014845.5(FIG4):c.535C>G (p.Leu179Val) rs141116831
NM_014845.5(FIG4):c.584A>T (p.Gln195Leu) rs749696803
NM_014845.5(FIG4):c.589C>T (p.Arg197Cys) rs770528195
NM_014845.5(FIG4):c.590G>T (p.Arg197Leu)
NM_014845.5(FIG4):c.805G>T (p.Val269Phe)
NM_014845.5(FIG4):c.80T>C (p.Val27Ala) rs769687105
NM_014845.5(FIG4):c.815T>C (p.Ile272Thr) rs765737780
NM_014845.5(FIG4):c.834A>T (p.Lys278Asn) rs138048706
NM_014845.5(FIG4):c.848G>A (p.Arg283His)
NM_014845.5(FIG4):c.974G>C (p.Arg325Thr) rs1060501400

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