Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | NC_000003.11:g.(?_69158226)_(69171557_?)del | 56203 | LMOD3 | Pathogenic | -1 | RCV000546526; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69158226 | 69171557 | | | | - | C4015360 616165 Nemaline myopathy 10; | |
NM_198271.5(LMOD3):c.1681dup (p.Ter561LeuextTer?) | 56203 | LMOD3 | Uncertain significance | 1575869958 | RCV000812418; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69158247 | 69158248 | | | 3:g.69158247_69158248insA | - | | |
NM_198271.5(LMOD3):c.1681T>C (p.Ter561Gln) | 56203 | LMOD3 | Uncertain significance | 749851437 | RCV001864624; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69158248 | 69158248 | | | 69158248 | - | | |
NM_198271.5(LMOD3):c.1680G>A (p.Ala560=) | 56203 | LMOD3 | Likely benign | 377046368 | RCV002142743; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69158249 | 69158249 | | | 69158249 | - | | |
NM_198271.5(LMOD3):c.1680G>T (p.Ala560=) | 56203 | LMOD3 | Likely benign | -1 | RCV002953552; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69158249 | 69158249 | | | | - | | |
NM_198271.5(LMOD3):c.1679C>T (p.Ala560Val) | 56203 | LMOD3 | Benign/Likely benign | 17005363 | RCV000554863|RCV001584341; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165|MedGen:C3661900 | 3 | 69158250 | 69158250 | | | 3:g.69158250G>A | ClinGen:CA2488685 | C4015360 616165 Nemaline myopathy 10; | |
NM_198271.5(LMOD3):c.1676_1677del (p.Leu559fs) | 56203 | LMOD3 | Uncertain significance | 2092336582 | RCV001209890; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69158252 | 69158253 | | | 3:g.69158252_69158253del | - | | |
NM_198271.5(LMOD3):c.1673A>C (p.Glu558Ala) | 56203 | LMOD3 | Uncertain significance | 562551827 | RCV001935424; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69158256 | 69158256 | | | 69158256 | - | | |
NM_198271.5(LMOD3):c.1670A>C (p.Lys557Thr) | 56203 | LMOD3 | Uncertain significance | 2092336619 | RCV001323513; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69158259 | 69158259 | | | 69158259 | - | | |
NM_198271.5(LMOD3):c.1667C>A (p.Pro556Gln) | 56203 | LMOD3 | Conflicting interpretations of pathogenicity | 201205115 | RCV000202913|RCV000540110|RCV003437005; | N | MedGen:CN169374|MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165|MedGen:C3661900 | 3 | 69158262 | 69158262 | | | 3:g.69158262G>T | ClinGen:CA249110 | C4015360 616165 Nemaline myopathy 10; | |
NM_198271.5(LMOD3):c.1667C>G (p.Pro556Arg) | 56203 | LMOD3 | Uncertain significance | -1 | RCV002834043; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69158262 | 69158262 | | | NC_000003.11:g.69158262G>C | - | | |
NM_198271.5(LMOD3):c.1664T>A (p.Leu555Gln) | 56203 | LMOD3 | Uncertain significance | 377612351 | RCV000652462|RCV003278974; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165|MeSH:D030342,MedGen:C0950123 | 3 | 69158265 | 69158265 | | | NC_000003.11:g.69158265A>T | ClinGen:CA2488689 | C4015360 616165 Nemaline myopathy 10; | |
NM_198271.5(LMOD3):c.1661A>G (p.Gln554Arg) | 56203 | LMOD3 | Uncertain significance | 2092336742 | RCV001216137; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69158268 | 69158268 | | | 3:g.69158268T>C | - | | |
NM_198271.5(LMOD3):c.1659G>T (p.Val553=) | 56203 | LMOD3 | Likely benign | 947092258 | RCV000529666; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69158270 | 69158270 | | | 3:g.69158270C>A | ClinGen:CA76441116 | C4015360 616165 Nemaline myopathy 10; | |
NM_198271.5(LMOD3):c.1657G>A (p.Val553Met) | 56203 | LMOD3 | Uncertain significance | 762946989 | RCV001061619; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69158272 | 69158272 | | | 3:g.69158272C>T | - | | |
NM_198271.5(LMOD3):c.1657-14T>C | 56203 | LMOD3 | Benign | 200984574 | RCV002213369; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69158286 | 69158286 | | | 69158286 | - | | |
NM_198271.5(LMOD3):c.1656+12G>T | 56203 | LMOD3 | Uncertain significance | -1 | RCV003025548; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69167838 | 69167838 | | | NC_000003.11:g.69167838C>A | - | | |
NM_198271.5(LMOD3):c.1656+1G>C | 56203 | LMOD3 | Uncertain significance | 1306800094 | RCV001969289; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69167849 | 69167849 | | | 69167849 | - | | |
NM_198271.5(LMOD3):c.1655C>A (p.Pro552His) | 56203 | LMOD3 | Benign | 145387235 | RCV000555899|RCV001653921; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165|MedGen:C3661900 | 3 | 69167851 | 69167851 | | | 3:g.69167851G>T | ClinGen:CA2488710 | C4015360 616165 Nemaline myopathy 10; | |
NM_198271.5(LMOD3):c.1648C>T (p.Leu550Phe) | 56203 | LMOD3 | Pathogenic | 1057519128 | RCV000415924|RCV000754092; | N | MedGen:C3661900|MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69167858 | 69167858 | | | 3:g.69167858G>A | ClinGen:CA16043765,OMIM:616112.0006 | CN517202 not provided; | |
NM_198271.5(LMOD3):c.1645T>C (p.Tyr549His) | 56203 | LMOD3 | Uncertain significance | 200045981 | RCV000652459|RCV001584505; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165|MedGen:C3661900 | 3 | 69167861 | 69167861 | | | NC_000003.11:g.69167861A>G | ClinGen:CA2488711 | C4015360 616165 Nemaline myopathy 10; | |
NM_198271.5(LMOD3):c.1642G>A (p.Ala548Thr) | 56203 | LMOD3 | Uncertain significance | 376653017 | RCV002000443; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69167864 | 69167864 | | | 69167864 | - | | |
NM_198271.5(LMOD3):c.1641C>G (p.Val547=) | 56203 | LMOD3 | Likely benign | 369854516 | RCV001403220; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69167865 | 69167865 | | | 3:g.69167865G>C | - | | |
NM_198271.5(LMOD3):c.1628G>T (p.Arg543Leu) | 56203 | LMOD3 | Pathogenic | 199655993 | RCV000986099; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69167878 | 69167878 | | | 3:g.69167878C>A | - | | |
NM_198271.5(LMOD3):c.1628G>A (p.Arg543His) | 56203 | LMOD3 | Uncertain significance | 199655993 | RCV001969383|RCV002571345; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165|MeSH:D030342,MedGen:C0950123 | 3 | 69167878 | 69167878 | | | 69167878 | - | | |
NM_198271.5(LMOD3):c.1621G>A (p.Asp541Asn) | 56203 | LMOD3 | Uncertain significance | -1 | RCV002644360; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69167885 | 69167885 | | | NC_000003.11:g.69167885C>T | - | | |
NM_198271.5(LMOD3):c.1617A>G (p.Leu539=) | 56203 | LMOD3 | Benign | 374084990 | RCV000872435; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69167889 | 69167889 | | | 3:g.69167889T>C | - | | |
NM_198271.5(LMOD3):c.1607A>T (p.Asp536Val) | 56203 | LMOD3 | Uncertain significance | -1 | RCV003020990; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69167899 | 69167899 | | | NC_000003.11:g.69167899T>A | - | | |
NM_198271.5(LMOD3):c.1606G>C (p.Asp536His) | 56203 | LMOD3 | Uncertain significance | 536143048 | RCV001056591; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69167900 | 69167900 | | | 3:g.69167900C>G | - | | |
NM_198271.5(LMOD3):c.1600C>G (p.Pro534Ala) | 56203 | LMOD3 | Uncertain significance | 2092389107 | RCV001050187; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69167906 | 69167906 | | | 3:g.69167906G>C | - | | |
NM_198271.5(LMOD3):c.1598C>T (p.Thr533Ile) | 56203 | LMOD3 | Uncertain significance | 2092389118 | RCV001322137; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69167908 | 69167908 | | | 69167908 | - | | |
NM_198271.5(LMOD3):c.1593A>C (p.Glu531Asp) | 56203 | LMOD3 | Uncertain significance | 749113549 | RCV002008476|RCV002579645; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165|MeSH:D030342,MedGen:C0950123 | 3 | 69167913 | 69167913 | | | 69167913 | - | | |
NM_198271.5(LMOD3):c.1585T>C (p.Leu529=) | 56203 | LMOD3 | Likely benign | 368819551 | RCV001500941; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69167921 | 69167921 | | | NC_000003.11:g.69167921A>G | ClinGen:CA2488727 | C4015360 616165 Nemaline myopathy 10; | |
NM_198271.5(LMOD3):c.1579C>T (p.Pro527Ser) | 56203 | LMOD3 | Likely benign | 373480967 | RCV000952100; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69167927 | 69167927 | | | 3:g.69167927G>A | - | | |
NM_198271.5(LMOD3):c.1579C>A (p.Pro527Thr) | 56203 | LMOD3 | Uncertain significance | 373480967 | RCV001215866; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69167927 | 69167927 | | | 3:g.69167927G>T | - | | |
NM_198271.5(LMOD3):c.1576C>T (p.Pro526Ser) | 56203 | LMOD3 | Uncertain significance | 201771939 | RCV000694912; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69167930 | 69167930 | | | 3:g.69167930G>A | - | C4015360 616165 Nemaline myopathy 10; | |
NM_198271.5(LMOD3):c.1566G>A (p.Pro522=) | 56203 | LMOD3 | Likely benign | -1 | RCV003052579; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69167940 | 69167940 | | | | - | | |
NM_198271.5(LMOD3):c.1558C>G (p.Pro520Ala) | 56203 | LMOD3 | Uncertain significance | 764451589 | RCV001212041; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69167948 | 69167948 | | | 3:g.69167948G>C | - | | |
NM_198271.5(LMOD3):c.1551G>T (p.Thr517=) | 56203 | LMOD3 | Likely benign | -1 | RCV002765731; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69167955 | 69167955 | | | | - | | |
NM_198271.5(LMOD3):c.1550C>T (p.Thr517Met) | 56203 | LMOD3 | Uncertain significance | 778825271 | RCV000824596; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69167956 | 69167956 | | | 3:g.69167956G>A | - | | |
NM_198271.5(LMOD3):c.1544T>A (p.Ile515Asn) | 56203 | LMOD3 | Uncertain significance | 747837263 | RCV000652461; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69167962 | 69167962 | | | NC_000003.11:g.69167962A>T | ClinGen:CA2488746 | C4015360 616165 Nemaline myopathy 10; | |
NM_198271.5(LMOD3):c.1540G>A (p.Val514Ile) | 56203 | LMOD3 | Uncertain significance | 2107525731 | RCV001995266; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69167966 | 69167966 | | | 69167966 | - | | |
NM_198271.5(LMOD3):c.1529A>C (p.Asn510Thr) | 56203 | LMOD3 | Uncertain significance | 538402410 | RCV000539757; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69167977 | 69167977 | | | 3:g.69167977T>G | ClinGen:CA2488747 | C4015360 616165 Nemaline myopathy 10; | |
NM_198271.5(LMOD3):c.1529A>G (p.Asn510Ser) | 56203 | LMOD3 | Uncertain significance | -1 | RCV002628793; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69167977 | 69167977 | | | NC_000003.11:g.69167977T>C | - | | |
NM_198271.5(LMOD3):c.1527C>T (p.Thr509=) | 56203 | LMOD3 | Likely benign | 746548821 | RCV002131785; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69167979 | 69167979 | | | 69167979 | - | | |
NM_198271.5(LMOD3):c.1519G>A (p.Glu507Lys) | 56203 | LMOD3 | Conflicting interpretations of pathogenicity | 149196259 | RCV000525027|RCV001576061|RCV002526712; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165|MedGen:C3661900|MeSH:D030342,MedGen:C0950123 | 3 | 69167987 | 69167987 | | | 3:g.69167987C>T | ClinGen:CA2488750 | C4015360 616165 Nemaline myopathy 10; | |
NM_198271.5(LMOD3):c.1518C>A (p.Pro506=) | 56203 | LMOD3 | Likely benign | 377380955 | RCV000652466; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69167988 | 69167988 | | | NC_000003.11:g.69167988G>T | ClinGen:CA2488751 | C4015360 616165 Nemaline myopathy 10; | |
NM_198271.5(LMOD3):c.1507A>G (p.Arg503Gly) | 56203 | LMOD3 | Uncertain significance | 764972614 | RCV000697023; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69167999 | 69167999 | | | 3:g.69167999T>C | - | C4015360 616165 Nemaline myopathy 10; | |
NM_198271.5(LMOD3):c.1505C>G (p.Ala502Gly) | 56203 | LMOD3 | Uncertain significance | 775938178 | RCV001298869|RCV002473256; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165|MedGen:CN517202 | 3 | 69168001 | 69168001 | | | 69168001 | - | | |
NM_198271.5(LMOD3):c.1500G>A (p.Pro500=) | 56203 | LMOD3 | Likely benign | 764693298 | RCV001392390; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168006 | 69168006 | | | 69168006 | - | | |
NM_198271.5(LMOD3):c.1493G>A (p.Arg498Gln) | 56203 | LMOD3 | Benign/Likely benign | 116440123 | RCV000555540|RCV001547724; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165|MedGen:C3661900 | 3 | 69168013 | 69168013 | | | 3:g.69168013C>T | ClinGen:CA2488759 | C4015360 616165 Nemaline myopathy 10; | |
NM_198271.5(LMOD3):c.1492C>A (p.Arg498=) | 56203 | LMOD3 | Likely benign | 750486518 | RCV002065467; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168014 | 69168014 | | | 3:g.69168014G>T | - | | |
NM_198271.5(LMOD3):c.1492C>T (p.Arg498Trp) | 56203 | LMOD3 | Uncertain significance | -1 | RCV002794914; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168014 | 69168014 | | | NC_000003.11:g.69168014G>A | - | | |
NM_198271.5(LMOD3):c.1488A>G (p.Lys496=) | 56203 | LMOD3 | Likely benign | 756341632 | RCV001501059; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168018 | 69168018 | | | 69168018 | - | | |
NM_198271.5(LMOD3):c.1484G>T (p.Arg495Leu) | 56203 | LMOD3 | Uncertain significance | 780071005 | RCV000810047; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168022 | 69168022 | | | 3:g.69168022C>A | - | | |
NM_198271.5(LMOD3):c.1484G>A (p.Arg495His) | 56203 | LMOD3 | Uncertain significance | 780071005 | RCV001912757; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168022 | 69168022 | | | 69168022 | - | | |
NM_198271.5(LMOD3):c.1483C>A (p.Arg495Ser) | 56203 | LMOD3 | Uncertain significance | 749726841 | RCV001344495; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168023 | 69168023 | | | 69168023 | - | | |
NM_198271.5(LMOD3):c.1483C>T (p.Arg495Cys) | 56203 | LMOD3 | Uncertain significance | 749726841 | RCV001864632; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168023 | 69168023 | | | 69168023 | - | | |
NM_198271.5(LMOD3):c.1473_1475del (p.Arg492del) | 56203 | LMOD3 | Uncertain significance | 752216316 | RCV002009715; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168031 | 69168033 | | | 69168030 | - | | |
NM_198271.5(LMOD3):c.1472dup (p.Arg492fs) | 56203 | LMOD3 | Pathogenic | 2107525795 | RCV001891509; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168033 | 69168034 | | | 69168033 | - | | |
NM_198271.5(LMOD3):c.1468C>A (p.Leu490Met) | 56203 | LMOD3 | Uncertain significance | 375665119 | RCV000810799; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168038 | 69168038 | | | 3:g.69168038G>T | - | | |
NM_198271.5(LMOD3):c.1464G>A (p.Val488=) | 56203 | LMOD3 | Likely benign | 532434736 | RCV001465856; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168042 | 69168042 | | | 69168042 | - | | |
NM_198271.5(LMOD3):c.1460T>C (p.Val487Ala) | 56203 | LMOD3 | Uncertain significance | 745318870 | RCV000540816|RCV002512114; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165|MedGen:C3661900 | 3 | 69168046 | 69168046 | | | 3:g.69168046A>G | ClinGen:CA2488770 | C4015360 616165 Nemaline myopathy 10; | |
NM_198271.5(LMOD3):c.1456C>T (p.Arg486Trp) | 56203 | LMOD3 | Uncertain significance | 769492984 | RCV001359326; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168050 | 69168050 | | | 69168050 | - | | |
NM_198271.5(LMOD3):c.1456C>G (p.Arg486Gly) | 56203 | LMOD3 | Uncertain significance | 769492984 | RCV001931759; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168050 | 69168050 | | | 69168050 | - | | |
NM_198271.5(LMOD3):c.1455C>T (p.Phe485=) | 56203 | LMOD3 | Likely benign | 774967350 | RCV002545901; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168051 | 69168051 | | | 3:g.69168051G>A | - | | |
NM_198271.5(LMOD3):c.1449C>A (p.Asp483Glu) | 56203 | LMOD3 | Uncertain significance | 2092390552 | RCV002018853; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168057 | 69168057 | | | 69168057 | - | | |
NM_198271.5(LMOD3):c.1449C>T (p.Asp483=) | 56203 | LMOD3 | Likely benign | 2092390552 | RCV002210829; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168057 | 69168057 | | | 69168057 | - | | |
NM_198271.5(LMOD3):c.1441G>A (p.Asp481Asn) | 56203 | LMOD3 | Uncertain significance | 750502860 | RCV000652460|RCV002530548; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165|MeSH:D030342,MedGen:C0950123 | 3 | 69168065 | 69168065 | | | NC_000003.11:g.69168065C>T | ClinGen:CA2488778 | C4015360 616165 Nemaline myopathy 10; | |
NM_198271.5(LMOD3):c.1428G>A (p.Pro476=) | 56203 | LMOD3 | Likely benign | 367573665 | RCV000525817; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168078 | 69168078 | | | 3:g.69168078C>T | ClinGen:CA2488783 | C4015360 616165 Nemaline myopathy 10; | |
NM_198271.5(LMOD3):c.1427C>T (p.Pro476Leu) | 56203 | LMOD3 | Uncertain significance | 751389222 | RCV001063897|RCV003353142; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165|MeSH:D030342,MedGen:C0950123 | 3 | 69168079 | 69168079 | | | 3:g.69168079G>A | - | | |
NM_198271.5(LMOD3):c.1423G>A (p.Ala475Thr) | 56203 | LMOD3 | Uncertain significance | 200273352 | RCV001206839|RCV003294006; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165|MeSH:D030342,MedGen:C0950123 | 3 | 69168083 | 69168083 | | | 3:g.69168083C>T | - | | |
NM_198271.5(LMOD3):c.1419G>A (p.Ser473=) | 56203 | LMOD3 | Likely benign | 373942606 | RCV001478344; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168087 | 69168087 | | | 69168087 | - | | |
NM_198271.5(LMOD3):c.1419G>T (p.Ser473=) | 56203 | LMOD3 | Likely benign | 373942606 | RCV001478810; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168087 | 69168087 | | | 69168087 | - | | |
NM_198271.5(LMOD3):c.1418C>A (p.Ser473Ter) | 56203 | LMOD3 | Likely pathogenic | -1 | RCV003147027; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168088 | 69168088 | | | NC_000003.11:g.69168088G>T | - | | |
NM_198271.5(LMOD3):c.1416A>G (p.Pro472=) | 56203 | LMOD3 | Likely benign | 563513367 | RCV000547367; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168090 | 69168090 | | | 3:g.69168090T>C | ClinGen:CA2488788 | C4015360 616165 Nemaline myopathy 10; | |
NM_198271.5(LMOD3):c.1416A>T (p.Pro472=) | 56203 | LMOD3 | Likely benign | 563513367 | RCV002085132; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168090 | 69168090 | | | 69168090 | - | | |
NM_198271.5(LMOD3):c.1415C>A (p.Pro472Gln) | 56203 | LMOD3 | Uncertain significance | 771791740 | RCV001337617; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168091 | 69168091 | | | 69168091 | - | | |
NM_198271.5(LMOD3):c.1403T>A (p.Met468Lys) | 56203 | LMOD3 | Uncertain significance | 2107525869 | RCV001365356; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168103 | 69168103 | | | 69168103 | - | | |
NM_198271.5(LMOD3):c.1397G>A (p.Ser466Asn) | 56203 | LMOD3 | Uncertain significance | 768340380 | RCV001924656; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168109 | 69168109 | | | 69168109 | - | | |
NM_198271.5(LMOD3):c.1384T>G (p.Phe462Val) | 56203 | LMOD3 | Uncertain significance | 368084636 | RCV000817185; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168122 | 69168122 | | | 3:g.69168122A>C | - | | |
NM_198271.5(LMOD3):c.1381C>T (p.Pro461Ser) | 56203 | LMOD3 | Uncertain significance | -1 | RCV002899956; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168125 | 69168125 | | | NC_000003.11:g.69168125G>A | - | | |
NM_198271.5(LMOD3):c.1379T>C (p.Val460Ala) | 56203 | LMOD3 | Uncertain significance | 1310959515 | RCV001300290; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168127 | 69168127 | | | 69168127 | - | | |
NM_198271.5(LMOD3):c.1377T>C (p.Asn459=) | 56203 | LMOD3 | Likely benign | 371736714 | RCV000652464; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168129 | 69168129 | | | NC_000003.11:g.69168129A>G | ClinGen:CA2488797 | C4015360 616165 Nemaline myopathy 10; | |
NM_198271.5(LMOD3):c.1370C>T (p.Pro457Leu) | 56203 | LMOD3 | Uncertain significance | 1323958359 | RCV001929936; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168136 | 69168136 | | | 69168136 | - | | |
NM_198271.5(LMOD3):c.1368C>G (p.Asn456Lys) | 56203 | LMOD3 | Uncertain significance | -1 | RCV003134085; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168138 | 69168138 | | | NC_000003.11:g.69168138G>C | - | | |
NM_198271.5(LMOD3):c.1367A>T (p.Asn456Ile) | 56203 | LMOD3 | Uncertain significance | 751407704 | RCV002050779; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168139 | 69168139 | | | 69168139 | - | | |
NM_198271.5(LMOD3):c.1355C>T (p.Pro452Leu) | 56203 | LMOD3 | Uncertain significance | 750436069 | RCV002001772; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168151 | 69168151 | | | 69168151 | - | | |
NM_198271.5(LMOD3):c.1355C>G (p.Pro452Arg) | 56203 | LMOD3 | Uncertain significance | -1 | RCV003024686; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168151 | 69168151 | | | NC_000003.11:g.69168151G>C | - | | |
NM_198271.5(LMOD3):c.1353A>G (p.Pro451=) | 56203 | LMOD3 | Likely benign | 756048205 | RCV000976320|RCV001473358; | N | MedGen:CN517202|MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168153 | 69168153 | | | 3:g.69168153T>C | - | | |
NM_198271.5(LMOD3):c.1353A>C (p.Pro451=) | 56203 | LMOD3 | Likely benign | 756048205 | RCV002144333; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168153 | 69168153 | | | 69168153 | - | | |
NM_198271.5(LMOD3):c.1350G>A (p.Pro450=) | 56203 | LMOD3 | Likely benign | 748774777 | RCV001392267; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168156 | 69168156 | | | 69168156 | - | | |
NM_198271.5(LMOD3):c.1348C>T (p.Pro450Ser) | 56203 | LMOD3 | Uncertain significance | 748532243 | RCV001063069|RCV002555818; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165|MeSH:D030342,MedGen:C0950123 | 3 | 69168158 | 69168158 | | | 3:g.69168158G>A | - | | |
NM_198271.5(LMOD3):c.1342C>T (p.Gln448Ter) | 56203 | LMOD3 | Pathogenic | 2092391598 | RCV001783605; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168164 | 69168164 | | | 69168164 | - | | |
NM_198271.5(LMOD3):c.1341C>T (p.Phe447=) | 56203 | LMOD3 | Likely benign | 747539477 | RCV000981590; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168165 | 69168165 | | | 3:g.69168165G>A | - | | |
NM_198271.5(LMOD3):c.1338C>T (p.Phe446=) | 56203 | LMOD3 | Likely benign | 771460251 | RCV002172970; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168168 | 69168168 | | | 69168168 | - | | |
NM_198271.5(LMOD3):c.1336T>C (p.Phe446Leu) | 56203 | LMOD3 | Uncertain significance | -1 | RCV002616273|RCV002623704; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165|MeSH:D030342,MedGen:C0950123 | 3 | 69168170 | 69168170 | | | NC_000003.11:g.69168170A>G | - | | |
NM_198271.5(LMOD3):c.1335A>G (p.Glu445=) | 56203 | LMOD3 | Likely benign | 759597732 | RCV000904462; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168171 | 69168171 | | | 3:g.69168171T>C | - | | |
NM_198271.5(LMOD3):c.1332G>T (p.Gln444His) | 56203 | LMOD3 | Uncertain significance | 765589286 | RCV000797418; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168174 | 69168174 | | | 3:g.69168174C>A | - | | |
NM_198271.5(LMOD3):c.1330C>T (p.Gln444Ter) | 56203 | LMOD3 | Pathogenic | -1 | RCV003083227; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168176 | 69168176 | | | NC_000003.11:g.69168176G>A | - | | |
NM_198271.5(LMOD3):c.1318G>A (p.Asp440Asn) | 56203 | LMOD3 | Uncertain significance | -1 | RCV002999421; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168188 | 69168188 | | | NC_000003.11:g.69168188C>T | - | | |
NM_198271.5(LMOD3):c.1313A>T (p.Lys438Met) | 56203 | LMOD3 | Benign/Likely benign | 6810145 | RCV000527843|RCV001591288; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165|MedGen:C3661900 | 3 | 69168193 | 69168193 | | | 3:g.69168193T>A | ClinGen:CA2488820 | C4015360 616165 Nemaline myopathy 10; | |
NM_198271.5(LMOD3):c.1312A>G (p.Lys438Glu) | 56203 | LMOD3 | Uncertain significance | -1 | RCV002604503; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168194 | 69168194 | | | NC_000003.11:g.69168194T>C | - | | |
NM_198271.5(LMOD3):c.1298T>A (p.Leu433Gln) | 56203 | LMOD3 | Uncertain significance | 371262604 | RCV001221338; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168208 | 69168208 | | | 3:g.69168208A>T | - | | |
NM_198271.5(LMOD3):c.1296G>A (p.Glu432=) | 56203 | LMOD3 | Likely benign | -1 | RCV002893879; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168210 | 69168210 | | | | - | | |
NM_198271.5(LMOD3):c.1294G>A (p.Glu432Lys) | 56203 | LMOD3 | Uncertain significance | 1239339268 | RCV001893480; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168212 | 69168212 | | | 69168212 | - | | |
NM_198271.5(LMOD3):c.1281C>G (p.Pro427=) | 56203 | LMOD3 | Likely benign | 1575879433 | RCV001456011; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168225 | 69168225 | | | 3:g.69168225G>C | - | | |
NM_198271.5(LMOD3):c.1280C>T (p.Pro427Leu) | 56203 | LMOD3 | Uncertain significance | 766271038 | RCV000796301; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168226 | 69168226 | | | 3:g.69168226G>A | - | | |
NM_198271.5(LMOD3):c.1270T>C (p.Leu424=) | 56203 | LMOD3 | Benign | 72924884 | RCV000534545|RCV001644662; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165|MedGen:C3661900 | 3 | 69168236 | 69168236 | | | 3:g.69168236A>G | ClinGen:CA2488826 | C4015360 616165 Nemaline myopathy 10; | |
NM_198271.5(LMOD3):c.1268G>C (p.Gly423Ala) | 56203 | LMOD3 | Uncertain significance | -1 | RCV002795475; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168238 | 69168238 | | | NC_000003.11:g.69168238C>G | - | | |
NM_198271.5(LMOD3):c.1259T>C (p.Leu420Ser) | 56203 | LMOD3 | Uncertain significance | 1553687786 | RCV000560759; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168247 | 69168247 | | | 3:g.69168247A>G | ClinGen:CA353471884 | C4015360 616165 Nemaline myopathy 10; | |
NM_198271.5(LMOD3):c.1257G>C (p.Met419Ile) | 56203 | LMOD3 | Benign/Likely benign | 75713718 | RCV000545829|RCV001574282; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165|MedGen:C3661900 | 3 | 69168249 | 69168249 | | | 3:g.69168249C>G | ClinGen:CA2488831 | C4015360 616165 Nemaline myopathy 10; | |
NM_198271.5(LMOD3):c.1256T>C (p.Met419Thr) | 56203 | LMOD3 | Uncertain significance | 2092392431 | RCV001961951; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168250 | 69168250 | | | 69168250 | - | | |
NM_198271.5(LMOD3):c.1252G>A (p.Ala418Thr) | 56203 | LMOD3 | Uncertain significance | -1 | RCV002947498; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168254 | 69168254 | | | NC_000003.11:g.69168254C>T | - | | |
NM_198271.5(LMOD3):c.1249A>T (p.Ile417Leu) | 56203 | LMOD3 | Uncertain significance | 745957045 | RCV000704011; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168257 | 69168257 | | | 3:g.69168257T>A | - | C4015360 616165 Nemaline myopathy 10; | |
NM_198271.5(LMOD3):c.1246C>T (p.Leu416=) | 56203 | LMOD3 | Likely benign | 1440827868 | RCV002216689; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168260 | 69168260 | | | 69168260 | - | | |
NM_198271.5(LMOD3):c.1235A>G (p.Glu412Gly) | 56203 | LMOD3 | Uncertain significance | 962387541 | RCV001338621; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168271 | 69168271 | | | 69168271 | - | | |
NM_198271.5(LMOD3):c.1234G>A (p.Glu412Lys) | 56203 | LMOD3 | Uncertain significance | 2107526085 | RCV001970917; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168272 | 69168272 | | | 69168272 | - | | |
NM_198271.5(LMOD3):c.1226A>G (p.Gln409Arg) | 56203 | LMOD3 | Benign/Likely benign | 116257053 | RCV000535607|RCV001560469; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165|MedGen:C3661900 | 3 | 69168280 | 69168280 | | | 3:g.69168280T>C | ClinGen:CA2488838 | C4015360 616165 Nemaline myopathy 10; | |
NM_198271.5(LMOD3):c.1219C>T (p.Gln407Ter) | 56203 | LMOD3 | Pathogenic | 2107526111 | RCV002035343; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168287 | 69168287 | | | 69168287 | - | | |
NM_198271.5(LMOD3):c.1213C>G (p.Gln405Glu) | 56203 | LMOD3 | Uncertain significance | 920889036 | RCV001334735; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168293 | 69168293 | | | 69168293 | - | | |
NM_198271.5(LMOD3):c.1201C>T (p.Arg401Ter) | 56203 | LMOD3 | Pathogenic | 724159964 | RCV000149597; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168305 | 69168305 | | | NC_000003.11:g.69168305G>A | OMIM:616112.0003,ClinGen:CA214788 | C4015360 616165 Nemaline myopathy 10; | |
NM_198271.5(LMOD3):c.1200A>G (p.Lys400=) | 56203 | LMOD3 | Likely benign | 2107526132 | RCV001400418; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168306 | 69168306 | | | 69168306 | - | | |
NM_198271.5(LMOD3):c.1196A>G (p.Gln399Arg) | 56203 | LMOD3 | Uncertain significance | 2092392939 | RCV001220182; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168310 | 69168310 | | | 3:g.69168310T>C | - | | |
NM_198271.5(LMOD3):c.1194G>C (p.Arg398Ser) | 56203 | LMOD3 | Uncertain significance | 1291539118 | RCV001962000; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168312 | 69168312 | | | 69168312 | - | | |
NM_198271.5(LMOD3):c.1192del (p.Arg398fs) | 56203 | LMOD3 | Pathogenic | 2107526137 | RCV001874108; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168314 | 69168314 | | | 69168313 | - | | |
NM_198271.5(LMOD3):c.1190A>G (p.Gln397Arg) | 56203 | LMOD3 | Conflicting interpretations of pathogenicity | 199592188 | RCV000552436|RCV002525319|RCV001531576; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165|MeSH:D030342,MedGen:C0950123|MedGen:C3661900 | 3 | 69168316 | 69168316 | | | 3:g.69168316T>C | ClinGen:CA2488842 | C4015360 616165 Nemaline myopathy 10; | |
NM_198271.5(LMOD3):c.1189C>G (p.Gln397Glu) | 56203 | LMOD3 | Uncertain significance | 1286766855 | RCV002044569; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168317 | 69168317 | | | 69168317 | - | | |
NM_198271.5(LMOD3):c.1167_1169del (p.Leu390del) | 56203 | LMOD3 | Uncertain significance | 777461365 | RCV002002224; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168337 | 69168339 | | | 69168336 | - | | |
NM_198271.5(LMOD3):c.1160C>T (p.Thr387Ile) | 56203 | LMOD3 | Uncertain significance | 758062503 | RCV002003306; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168346 | 69168346 | | | 69168346 | - | | |
NM_198271.5(LMOD3):c.1158C>T (p.Val386=) | 56203 | LMOD3 | Likely benign | -1 | RCV002834344; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168348 | 69168348 | | | | - | | |
NM_198271.5(LMOD3):c.1157T>C (p.Val386Ala) | 56203 | LMOD3 | Uncertain significance | 2107526166 | RCV001888946; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168349 | 69168349 | | | 69168349 | - | | |
NM_198271.5(LMOD3):c.1152G>A (p.Met384Ile) | 56203 | LMOD3 | Uncertain significance | 1424776785 | RCV000697582; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168354 | 69168354 | | | 3:g.69168354C>T | - | C4015360 616165 Nemaline myopathy 10; | |
NM_198271.5(LMOD3):c.1144C>T (p.Pro382Ser) | 56203 | LMOD3 | Benign | 74350755 | RCV000556994|RCV001672865; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165|MedGen:C3661900 | 3 | 69168362 | 69168362 | | | 3:g.69168362G>A | ClinGen:CA2488851 | C4015360 616165 Nemaline myopathy 10; | |
NM_198271.5(LMOD3):c.1140G>A (p.Pro380=) | 56203 | LMOD3 | Likely benign | -1 | RCV003069387; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168366 | 69168366 | | | | - | | |
NM_198271.5(LMOD3):c.1139C>T (p.Pro380Leu) | 56203 | LMOD3 | Uncertain significance | 765223466 | RCV000546840; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168367 | 69168367 | | | 3:g.69168367G>A | ClinGen:CA2488854 | C4015360 616165 Nemaline myopathy 10; | |
NM_198271.5(LMOD3):c.1130T>G (p.Phe377Cys) | 56203 | LMOD3 | Uncertain significance | 373483102 | RCV001808137; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168376 | 69168376 | | | 69168376 | - | | |
NM_198271.5(LMOD3):c.1130T>C (p.Phe377Ser) | 56203 | LMOD3 | Uncertain significance | 373483102 | RCV002025326|RCV002579585; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165|MeSH:D030342,MedGen:C0950123 | 3 | 69168376 | 69168376 | | | 69168376 | - | | |
NM_198271.5(LMOD3):c.1123T>C (p.Tyr375His) | 56203 | LMOD3 | Likely benign | 201506296 | RCV001481284; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168383 | 69168383 | | | 3:g.69168383A>G | - | | |
NM_198271.5(LMOD3):c.1111C>A (p.Leu371Met) | 56203 | LMOD3 | Uncertain significance | 546583536 | RCV001295975; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168395 | 69168395 | | | 69168395 | - | | |
NM_198271.5(LMOD3):c.1111C>G (p.Leu371Val) | 56203 | LMOD3 | Uncertain significance | 546583536 | RCV001921447; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168395 | 69168395 | | | 69168395 | - | | |
NM_198271.5(LMOD3):c.1100ACA[1] (p.Asn368del) | 56203 | LMOD3 | Uncertain significance | 727502798 | RCV000149596; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168401 | 69168403 | | | 3:g.69168401_69168403del | ClinGen:CA214786,OMIM:616112.0002 | C4015360 616165 Nemaline myopathy 10; | |
NM_198271.5(LMOD3):c.1099_1100del (p.Asn367fs) | 56203 | LMOD3 | Pathogenic/Likely pathogenic | 727502799 | RCV000149598|RCV000522872; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165|MedGen:C3661900 | 3 | 69168406 | 69168407 | | | 3:g.69168406_69168407del | ClinGen:CA214790,OMIM:616112.0004 | C4015360 616165 Nemaline myopathy 10; | |
NM_198271.5(LMOD3):c.1095G>A (p.Lys365=) | 56203 | LMOD3 | Likely benign | 185537696 | RCV002108527; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168411 | 69168411 | | | 69168411 | - | | |
NM_198271.5(LMOD3):c.1088T>G (p.Leu363Arg) | 56203 | LMOD3 | Uncertain significance | -1 | RCV002839541; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168418 | 69168418 | | | NC_000003.11:g.69168418A>C | - | | |
NM_198271.5(LMOD3):c.1081G>A (p.Ala361Thr) | 56203 | LMOD3 | Uncertain significance | 2092394013 | RCV001237303; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168425 | 69168425 | | | 3:g.69168425C>T | - | | |
NM_198271.5(LMOD3):c.1079T>C (p.Ile360Thr) | 56203 | LMOD3 | Uncertain significance | 1559661751 | RCV000687285; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168427 | 69168427 | | | 3:g.69168427A>G | - | C4015360 616165 Nemaline myopathy 10; | |
NM_198271.5(LMOD3):c.1069G>T (p.Glu357Ter) | 56203 | LMOD3 | Pathogenic | 724159965 | RCV000149599; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168437 | 69168437 | | | 3:g.69168437C>A | ClinGen:CA214791,OMIM:616112.0005 | C4015360 616165 Nemaline myopathy 10; | |
NM_198271.5(LMOD3):c.1061A>G (p.His354Arg) | 56203 | LMOD3 | Uncertain significance | 1217215656 | RCV001909644; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168445 | 69168445 | | | 69168445 | - | | |
NM_198271.5(LMOD3):c.1056G>A (p.Leu352=) | 56203 | LMOD3 | Likely benign | -1 | RCV002807145; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168450 | 69168450 | | | | - | | |
NM_198271.5(LMOD3):c.1052T>C (p.Met351Thr) | 56203 | LMOD3 | Uncertain significance | -1 | RCV002932369; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168454 | 69168454 | | | NC_000003.11:g.69168454A>G | - | | |
NM_198271.5(LMOD3):c.1031G>A (p.Arg344Gln) | 56203 | LMOD3 | Uncertain significance | 558303713 | RCV001243425; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168475 | 69168475 | | | 3:g.69168475C>T | - | | |
NM_198271.5(LMOD3):c.1030C>T (p.Arg344Trp) | 56203 | LMOD3 | Uncertain significance | 778824655 | RCV000530701; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168476 | 69168476 | | | 3:g.69168476G>A | ClinGen:CA2488874 | C4015360 616165 Nemaline myopathy 10; | |
NM_198271.5(LMOD3):c.1020_1023del (p.Thr341fs) | 56203 | LMOD3 | Pathogenic | 778840325 | RCV001783607; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168483 | 69168486 | | | 69168482 | - | | |
NM_198271.5(LMOD3):c.1015A>G (p.Thr339Ala) | 56203 | LMOD3 | Uncertain significance | 1273623485 | RCV001240109; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168491 | 69168491 | | | 3:g.69168491T>C | - | | |
NM_198271.5(LMOD3):c.1004A>G (p.Gln335Arg) | 56203 | LMOD3 | Pathogenic | 1057519129 | RCV000416034|RCV000754093; | N | MedGen:C3661900|MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168502 | 69168502 | | | 3:g.69168502T>C | ClinGen:CA16043766,OMIM:616112.0007 | CN517202 not provided; | |
NM_198271.5(LMOD3):c.990C>G (p.Ile330Met) | 56203 | LMOD3 | Uncertain significance | -1 | RCV003063243; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168516 | 69168516 | | | NC_000003.11:g.69168516G>C | - | | |
NM_198271.5(LMOD3):c.990C>A (p.Ile330=) | 56203 | LMOD3 | Likely benign | -1 | RCV003045241; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168516 | 69168516 | | | | - | | |
NM_198271.5(LMOD3):c.987C>A (p.Ala329=) | 56203 | LMOD3 | Likely benign | 1367220865 | RCV001416984; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168519 | 69168519 | | | 3:g.69168519G>T | ClinGen:CA434426521 | C4015360 616165 Nemaline myopathy 10; | |
NM_198271.5(LMOD3):c.985G>A (p.Ala329Thr) | 56203 | LMOD3 | Uncertain significance | -1 | RCV002586447; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168521 | 69168521 | | | NC_000003.11:g.69168521C>T | - | | |
NM_198271.5(LMOD3):c.980T>C (p.Ile327Thr) | 56203 | LMOD3 | Uncertain significance | -1 | RCV003017676; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168526 | 69168526 | | | NC_000003.11:g.69168526A>G | - | | |
NM_198271.5(LMOD3):c.976G>C (p.Gly326Arg) | 56203 | LMOD3 | Uncertain significance | 2107526347 | RCV001364566; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168530 | 69168530 | | | 69168530 | - | | |
NM_198271.5(LMOD3):c.971del (p.Gly324fs) | 56203 | LMOD3 | Pathogenic | 2107526351 | RCV001938248; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168535 | 69168535 | | | 69168534 | - | | |
NM_198271.5(LMOD3):c.961T>C (p.Phe321Leu) | 56203 | LMOD3 | Uncertain significance | 2092395041 | RCV001942786; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168545 | 69168545 | | | 69168545 | - | | |
NM_198271.5(LMOD3):c.951C>G (p.Ile317Met) | 56203 | LMOD3 | Uncertain significance | 761586160 | RCV001314775; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168555 | 69168555 | | | 69168555 | - | | |
NM_198271.5(LMOD3):c.944_945del (p.Leu315fs) | 56203 | LMOD3 | Pathogenic | -1 | RCV003228190; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168561 | 69168562 | | | | - | | |
NM_198271.5(LMOD3):c.927T>C (p.Asn309=) | 56203 | LMOD3 | Likely benign | 181434087 | RCV000532830; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168579 | 69168579 | | | 3:g.69168579A>G | ClinGen:CA2488889 | C4015360 616165 Nemaline myopathy 10; | |
NM_198271.5(LMOD3):c.920G>A (p.Arg307His) | 56203 | LMOD3 | Uncertain significance | 756497709 | RCV001372216; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168586 | 69168586 | | | 69168586 | - | | |
NM_198271.5(LMOD3):c.906G>A (p.Leu302=) | 56203 | LMOD3 | Likely benign | 370070559 | RCV001451123; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168600 | 69168600 | | | 69168600 | - | | |
NM_198271.5(LMOD3):c.895G>A (p.Ala299Thr) | 56203 | LMOD3 | Uncertain significance | 758653889 | RCV001245941; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168611 | 69168611 | | | 3:g.69168611C>T | - | | |
NM_198271.5(LMOD3):c.882dup (p.Asp295fs) | 56203 | LMOD3 | Pathogenic | -1 | RCV003100635; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168623 | 69168624 | | | NC_000003.11:g.69168624dup | - | | |
NM_198271.5(LMOD3):c.878G>A (p.Gly293Asp) | 56203 | LMOD3 | Benign | 111797345 | RCV000558808|RCV001662599; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165|MedGen:C3661900 | 3 | 69168628 | 69168628 | | | 3:g.69168628C>T | ClinGen:CA2488899 | C4015360 616165 Nemaline myopathy 10; | |
NM_198271.5(LMOD3):c.875T>C (p.Val292Ala) | 56203 | LMOD3 | Uncertain significance | 1575880432 | RCV000816214; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168631 | 69168631 | | | 3:g.69168631A>G | - | | |
NM_198271.5(LMOD3):c.872A>G (p.Asn291Ser) | 56203 | LMOD3 | Uncertain significance | 768467240 | RCV001054729; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168634 | 69168634 | | | 3:g.69168634T>C | - | | |
NM_198271.5(LMOD3):c.872A>C (p.Asn291Thr) | 56203 | LMOD3 | Uncertain significance | -1 | RCV002796382; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168634 | 69168634 | | | NC_000003.11:g.69168634T>G | - | | |
NM_198271.5(LMOD3):c.862A>C (p.Ser288Arg) | 56203 | LMOD3 | Uncertain significance | 2092395759 | RCV001305280; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168644 | 69168644 | | | 69168644 | - | | |
NM_198271.5(LMOD3):c.843C>T (p.Asn281=) | 56203 | LMOD3 | Likely benign | 1268359340 | RCV001487163; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168663 | 69168663 | | | 69168663 | - | | |
NM_198271.5(LMOD3):c.839A>G (p.Lys280Arg) | 56203 | LMOD3 | Uncertain significance | 1435079305 | RCV001325029; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168667 | 69168667 | | | 69168667 | - | | |
NM_198271.5(LMOD3):c.838A>G (p.Lys280Glu) | 56203 | LMOD3 | Uncertain significance | 934465837 | RCV001229012; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168668 | 69168668 | | | 3:g.69168668T>C | - | | |
NM_198271.5(LMOD3):c.837G>A (p.Lys279=) | 56203 | LMOD3 | Benign/Likely benign | 185967498 | RCV000865175|RCV001563020; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165|MedGen:C3661900 | 3 | 69168669 | 69168669 | | | 3:g.69168669C>T | - | | |
NM_198271.5(LMOD3):c.832A>G (p.Met278Val) | 56203 | LMOD3 | Uncertain significance | 755520605 | RCV002028092; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168674 | 69168674 | | | 69168674 | - | | |
NM_198271.5(LMOD3):c.823G>A (p.Val275Ile) | 56203 | LMOD3 | Uncertain significance | 777811622 | RCV001995754; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168683 | 69168683 | | | 69168683 | - | | |
NM_198271.5(LMOD3):c.819C>T (p.Asp273=) | 56203 | LMOD3 | Likely benign | 375767322 | RCV000652465; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168687 | 69168687 | | | NC_000003.11:g.69168687G>A | ClinGen:CA2488916 | C4015360 616165 Nemaline myopathy 10; | |
NM_198271.5(LMOD3):c.817G>T (p.Asp273Tyr) | 56203 | LMOD3 | Uncertain significance | 757466929 | RCV001960067; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168689 | 69168689 | | | 69168689 | - | | |
NM_198271.5(LMOD3):c.806A>G (p.Glu269Gly) | 56203 | LMOD3 | Uncertain significance | 2107526495 | RCV001962230; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168700 | 69168700 | | | 69168700 | - | | |
NM_198271.5(LMOD3):c.797T>C (p.Ile266Thr) | 56203 | LMOD3 | Uncertain significance | 545644080 | RCV001872584; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168709 | 69168709 | | | 69168709 | - | | |
NM_198271.5(LMOD3):c.788T>C (p.Ile263Thr) | 56203 | LMOD3 | Conflicting interpretations of pathogenicity | 9835034 | RCV000544001|RCV001562953; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165|MedGen:C3661900 | 3 | 69168718 | 69168718 | | | 3:g.69168718A>G | ClinGen:CA2488922 | C4015360 616165 Nemaline myopathy 10; | |
NM_198271.5(LMOD3):c.779T>C (p.Leu260Pro) | 56203 | LMOD3 | Conflicting interpretations of pathogenicity | 1553687898 | RCV000498177|RCV000529092; | N | MedGen:CN517202|MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168727 | 69168727 | | | 3:g.69168727A>G | ClinGen:CA353474761 | C4015360 616165 Nemaline myopathy 10; | |
NM_198271.5(LMOD3):c.778C>T (p.Leu260=) | 56203 | LMOD3 | Likely benign | 760458494 | RCV000951975; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168728 | 69168728 | | | 3:g.69168728G>A | - | | |
NM_198271.5(LMOD3):c.777C>A (p.Asn259Lys) | 56203 | LMOD3 | Uncertain significance | 2107526531 | RCV001966623; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168729 | 69168729 | | | 69168729 | - | | |
NM_198271.5(LMOD3):c.761A>G (p.Asp254Gly) | 56203 | LMOD3 | Uncertain significance | 905218627 | RCV001062550; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168745 | 69168745 | | | 3:g.69168745T>C | - | | |
NM_198271.5(LMOD3):c.759T>C (p.Pro253=) | 56203 | LMOD3 | Benign | 115972674 | RCV000556318|RCV001619790; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165|MedGen:C3661900 | 3 | 69168747 | 69168747 | | | 3:g.69168747A>G | ClinGen:CA2488929 | C4015360 616165 Nemaline myopathy 10; | |
NM_198271.5(LMOD3):c.744T>A (p.Val248=) | 56203 | LMOD3 | Likely benign | 1047754733 | RCV001398956; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168762 | 69168762 | | | 69168762 | - | | |
NM_198271.5(LMOD3):c.723_733del (p.Asp242fs) | 56203 | LMOD3 | Pathogenic/Likely pathogenic | 769824247 | RCV001008818|RCV001784553; | N | MedGen:C3661900|MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168773 | 69168783 | | | 3:g.69168773_69168783del | - | | |
NM_198271.5(LMOD3):c.704C>G (p.Ser235Ter) | 56203 | LMOD3 | Pathogenic | 2092396963 | RCV001993220; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168802 | 69168802 | | | 69168802 | - | | |
NM_198271.5(LMOD3):c.695C>T (p.Thr232Ile) | 56203 | LMOD3 | Uncertain significance | 2107526596 | RCV002046035; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168811 | 69168811 | | | 69168811 | - | | |
NM_198271.5(LMOD3):c.685A>G (p.Lys229Glu) | 56203 | LMOD3 | Uncertain significance | 2107526606 | RCV001893698; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168821 | 69168821 | | | 69168821 | - | | |
NM_198271.5(LMOD3):c.675C>G (p.Thr225=) | 56203 | LMOD3 | Likely benign | 1006337657 | RCV001503833; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168831 | 69168831 | | | 69168831 | - | | |
NM_198271.5(LMOD3):c.671A>G (p.Asp224Gly) | 56203 | LMOD3 | Uncertain significance | 898638017 | RCV000541468; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168835 | 69168835 | | | 3:g.69168835T>C | ClinGen:CA76453508 | C4015360 616165 Nemaline myopathy 10; | |
NM_198271.5(LMOD3):c.667C>G (p.Leu223Val) | 56203 | LMOD3 | Uncertain significance | 2092397307 | RCV001037360; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168839 | 69168839 | | | 3:g.69168839G>C | - | | |
NM_198271.5(LMOD3):c.660G>C (p.Lys220Asn) | 56203 | LMOD3 | Uncertain significance | 778737371 | RCV001889705; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168846 | 69168846 | | | 69168846 | - | | |
NM_198271.5(LMOD3):c.656A>G (p.Lys219Arg) | 56203 | LMOD3 | Uncertain significance | 190038977 | RCV000702960; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168850 | 69168850 | | | 3:g.69168850T>C | - | C4015360 616165 Nemaline myopathy 10; | |
NM_198271.5(LMOD3):c.642G>A (p.Ser214=) | 56203 | LMOD3 | Benign | 9815992 | RCV000531146|RCV001683586; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165|MedGen:C3661900 | 3 | 69168864 | 69168864 | | | NC_000003.11:g.69168864C>T | ClinGen:CA2488941 | C4015360 616165 Nemaline myopathy 10; | |
NM_198271.5(LMOD3):c.641C>T (p.Ser214Leu) | 56203 | LMOD3 | Uncertain significance | -1 | RCV002727001; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168865 | 69168865 | | | NC_000003.11:g.69168865G>A | - | | |
NM_198271.5(LMOD3):c.633A>C (p.Lys211Asn) | 56203 | LMOD3 | Uncertain significance | -1 | RCV002590966; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168873 | 69168873 | | | NC_000003.11:g.69168873T>G | - | | |
NM_198271.5(LMOD3):c.611A>T (p.Glu204Val) | 56203 | LMOD3 | Uncertain significance | 2107526679 | RCV001922417; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168895 | 69168895 | | | 69168895 | - | | |
NM_198271.5(LMOD3):c.608C>G (p.Pro203Arg) | 56203 | LMOD3 | Conflicting interpretations of pathogenicity | 775919681 | RCV000596439|RCV001078491; | N | MedGen:CN517202|MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168898 | 69168898 | | | 3:g.69168898G>C | ClinGen:CA2488951 | C4015360 616165 Nemaline myopathy 10; | |
NM_198271.5(LMOD3):c.575C>T (p.Thr192Ile) | 56203 | LMOD3 | Uncertain significance | 1408867451 | RCV001923334; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168931 | 69168931 | | | 69168931 | - | | |
NM_198271.5(LMOD3):c.563G>A (p.Cys188Tyr) | 56203 | LMOD3 | Uncertain significance | -1 | RCV003022914; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168943 | 69168943 | | | NC_000003.11:g.69168943C>T | - | | |
NM_198271.5(LMOD3):c.547A>G (p.Asn183Asp) | 56203 | LMOD3 | Uncertain significance | -1 | RCV002966253; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168959 | 69168959 | | | NC_000003.11:g.69168959T>C | - | | |
NM_198271.5(LMOD3):c.545G>T (p.Arg182Ile) | 56203 | LMOD3 | Uncertain significance | 2107526736 | RCV001867418; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168961 | 69168961 | | | 69168961 | - | | |
NM_198271.5(LMOD3):c.523G>A (p.Gly175Ser) | 56203 | LMOD3 | Uncertain significance | 2092398483 | RCV001314094; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168983 | 69168983 | | | 69168983 | - | | |
NM_198271.5(LMOD3):c.522A>G (p.Glu174=) | 56203 | LMOD3 | Likely benign | 777811015 | RCV002097812; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168984 | 69168984 | | | 69168984 | - | | |
NM_198271.5(LMOD3):c.521A>T (p.Glu174Val) | 56203 | LMOD3 | Uncertain significance | 1559662229 | RCV000693383; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168985 | 69168985 | | | 3:g.69168985T>A | - | C4015360 616165 Nemaline myopathy 10; | |
NM_198271.5(LMOD3):c.511A>G (p.Arg171Gly) | 56203 | LMOD3 | Uncertain significance | 376560960 | RCV001352295|RCV003169752; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165|MeSH:D030342,MedGen:C0950123 | 3 | 69168995 | 69168995 | | | 69168995 | - | | |
NM_198271.5(LMOD3):c.510C>G (p.Asn170Lys) | 56203 | LMOD3 | Uncertain significance | 1280888308 | RCV001312746; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168996 | 69168996 | | | 69168996 | - | | |
NM_198271.5(LMOD3):c.507G>A (p.Thr169=) | 56203 | LMOD3 | Likely benign | -1 | RCV002998917; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69168999 | 69168999 | | | | - | | |
NM_198271.5(LMOD3):c.506C>T (p.Thr169Met) | 56203 | LMOD3 | Uncertain significance | 181564355 | RCV000812257; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69169000 | 69169000 | | | 3:g.69169000G>A | - | | |
NM_198271.5(LMOD3):c.506C>G (p.Thr169Arg) | 56203 | LMOD3 | Uncertain significance | 181564355 | RCV001218314; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69169000 | 69169000 | | | 3:g.69169000G>C | - | | |
NM_198271.5(LMOD3):c.495G>C (p.Glu165Asp) | 56203 | LMOD3 | Uncertain significance | 1488501537 | RCV002010298|RCV002642071; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165|MeSH:D030342,MedGen:C0950123 | 3 | 69169011 | 69169011 | | | 69169011 | - | | |
NM_198271.5(LMOD3):c.484G>A (p.Asp162Asn) | 56203 | LMOD3 | Uncertain significance | 551988491 | RCV001233825; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69169022 | 69169022 | | | 3:g.69169022C>T | - | | |
NM_198271.5(LMOD3):c.481G>A (p.Asp161Asn) | 56203 | LMOD3 | Uncertain significance | 1019240148 | RCV001308970; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69169025 | 69169025 | | | 69169025 | - | | |
NM_198271.5(LMOD3):c.476del (p.Gly159fs) | 56203 | LMOD3 | Pathogenic | 1426709672 | RCV000542385; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69169030 | 69169030 | | | 3:g.69169030_69169030del | ClinGen:CA544004934 | C4015360 616165 Nemaline myopathy 10; | |
NM_198271.5(LMOD3):c.474A>T (p.Glu158Asp) | 56203 | LMOD3 | Uncertain significance | -1 | RCV002736722; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69169032 | 69169032 | | | NC_000003.11:g.69169032T>A | - | | |
NM_198271.5(LMOD3):c.468CGA[1] (p.Asp157del) | 56203 | LMOD3 | Uncertain significance | 759855873 | RCV001053580|RCV001759991; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165|MedGen:CN517202 | 3 | 69169033 | 69169035 | | | 3:g.69169033_69169035del | - | | |
NM_198271.5(LMOD3):c.472G>A (p.Glu158Lys) | 56203 | LMOD3 | Uncertain significance | 988718606 | RCV001359801; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69169034 | 69169034 | | | 69169034 | - | | |
NM_198271.5(LMOD3):c.471C>T (p.Asp157=) | 56203 | LMOD3 | Likely benign | 568706767 | RCV001398788; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69169035 | 69169035 | | | 3:g.69169035G>A | ClinGen:CA2488973 | C4015360 616165 Nemaline myopathy 10; | |
NM_198271.5(LMOD3):c.469G>A (p.Asp157Asn) | 56203 | LMOD3 | Uncertain significance | 574142691 | RCV001056918; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69169037 | 69169037 | | | 3:g.69169037C>T | - | | |
NM_198271.5(LMOD3):c.456TGA[7] (p.Asp155_Asp157dup) | 56203 | LMOD3 | Uncertain significance | 752238157 | RCV001037591; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69169038 | 69169039 | | | 3:g.69169038_69169039insTCATCATCA | - | | |
NM_198271.5(LMOD3):c.468C>A (p.Asp156Glu) | 56203 | LMOD3 | Uncertain significance | 537602397 | RCV001363698; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69169038 | 69169038 | | | 69169038 | - | | |
NM_198271.5(LMOD3):c.456TGA[5] (p.Asp157_Glu158insAsp) | 56203 | LMOD3 | Uncertain significance | -1 | RCV003112753; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69169038 | 69169039 | | | NC_000003.11:g.69169041ATC[5] | - | | |
NM_198271.5(LMOD3):c.456TGA[3] (p.Asp157del) | 56203 | LMOD3 | Likely benign | 752238157 | RCV001438967|RCV001547049; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165|MedGen:C3661900 | 3 | 69169039 | 69169041 | | | 69169038 | - | | |
NM_198271.5(LMOD3):c.466G>C (p.Asp156His) | 56203 | LMOD3 | Uncertain significance | 371587555 | RCV001062769|RCV003346295; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165|MeSH:D030342,MedGen:C0950123 | 3 | 69169040 | 69169040 | | | 3:g.69169040C>G | - | | |
NM_198271.5(LMOD3):c.465T>C (p.Asp155=) | 56203 | LMOD3 | Likely benign | -1 | RCV002710359; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69169041 | 69169041 | | | | - | | |
NM_198271.5(LMOD3):c.464A>G (p.Asp155Gly) | 56203 | LMOD3 | Uncertain significance | 2092399198 | RCV001219674; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69169042 | 69169042 | | | 3:g.69169042T>C | - | | |
NM_198271.5(LMOD3):c.463G>A (p.Asp155Asn) | 56203 | LMOD3 | Uncertain significance | 767649855 | RCV001295622|RCV002538458; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165|MeSH:D030342,MedGen:C0950123 | 3 | 69169043 | 69169043 | | | 69169043 | - | | |
NM_198271.5(LMOD3):c.461A>G (p.Asp154Gly) | 56203 | LMOD3 | Conflicting interpretations of pathogenicity | 773327736 | RCV001963911|RCV002569257; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165|MeSH:D030342,MedGen:C0950123 | 3 | 69169045 | 69169045 | | | 69169045 | - | | |
NM_198271.5(LMOD3):c.459T>C (p.Asp153=) | 56203 | LMOD3 | Likely benign | 557184030 | RCV002215884; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69169047 | 69169047 | | | 69169047 | - | | |
NM_198271.5(LMOD3):c.453_458del (p.Glu151_Asp152del) | 56203 | LMOD3 | Uncertain significance | 2092399265 | RCV001055239; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69169048 | 69169053 | | | 3:g.69169048_69169053del | - | | |
NM_198271.5(LMOD3):c.456T>A (p.Asp152Glu) | 56203 | LMOD3 | Uncertain significance | 1388186593 | RCV000549137; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69169050 | 69169050 | | | 3:g.69169050A>T | ClinGen:CA353476598 | C4015360 616165 Nemaline myopathy 10; | |
NM_198271.5(LMOD3):c.444AGA[5] (p.Glu151dup) | 56203 | LMOD3 | Likely benign | 753459417 | RCV001496614; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69169050 | 69169051 | | | 69169050 | - | | |
NM_198271.5(LMOD3):c.444AGA[3] (p.Glu151del) | 56203 | LMOD3 | Uncertain significance | 753459417 | RCV000538756|RCV003159133; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165|MedGen:C3661900 | 3 | 69169051 | 69169053 | | | 3:g.69169051_69169053del | ClinGen:CA2488980 | C4015360 616165 Nemaline myopathy 10; | |
NM_198271.5(LMOD3):c.444AGA[2] (p.Glu150_Glu151del) | 56203 | LMOD3 | Uncertain significance | 753459417 | RCV001896928; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69169051 | 69169056 | | | 69169050 | - | | |
NM_198271.5(LMOD3):c.453A>T (p.Glu151Asp) | 56203 | LMOD3 | Uncertain significance | 376142558 | RCV000687402; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69169053 | 69169053 | | | NC_000003.11:g.69169053T>A | - | C4015360 616165 Nemaline myopathy 10; | |
NM_198271.5(LMOD3):c.450A>G (p.Glu150=) | 56203 | LMOD3 | Likely benign | 1575881414 | RCV001447938; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69169056 | 69169056 | | | 3:g.69169056T>C | - | | |
NM_198271.5(LMOD3):c.432TGAAGAAGA[1] (p.144DEE[1]) | 56203 | LMOD3 | Uncertain significance | 1179727503 | RCV001238949; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69169057 | 69169065 | | | 3:g.69169057_69169065del | - | | |
NM_198271.5(LMOD3):c.441_443del (p.Asp147del) | 56203 | LMOD3 | Uncertain significance | 2107526849 | RCV001366872; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69169063 | 69169065 | | | 69169062 | - | | |
NM_198271.5(LMOD3):c.438A>G (p.Glu146=) | 56203 | LMOD3 | Likely benign | 758216222 | RCV000527304; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69169068 | 69169068 | | | 3:g.69169068T>C | ClinGen:CA2488986 | C4015360 616165 Nemaline myopathy 10; | |
NM_198271.5(LMOD3):c.435A>G (p.Glu145=) | 56203 | LMOD3 | Likely benign | 2107526854 | RCV001884507; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69169071 | 69169071 | | | 69169071 | - | | |
NM_198271.5(LMOD3):c.430G>A (p.Asp144Asn) | 56203 | LMOD3 | Uncertain significance | -1 | RCV002983083; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69169076 | 69169076 | | | NC_000003.11:g.69169076C>T | - | | |
NM_198271.5(LMOD3):c.426A>C (p.Glu142Asp) | 56203 | LMOD3 | Benign/Likely benign | 111848977 | RCV000534015|RCV001566848|RCV001821635; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165|MedGen:C3661900|MedGen:CN169374 | 3 | 69169080 | 69169080 | | | 3:g.69169080T>G | ClinGen:CA2488990 | C4015360 616165 Nemaline myopathy 10; | |
NM_198271.5(LMOD3):c.426A>G (p.Glu142=) | 56203 | LMOD3 | Benign/Likely benign | 111848977 | RCV000548929|RCV001577394; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165|MedGen:C3661900 | 3 | 69169080 | 69169080 | | | 3:g.69169080T>C | ClinGen:CA2488989 | C4015360 616165 Nemaline myopathy 10; | |
NM_198271.5(LMOD3):c.417T>C (p.Asn139=) | 56203 | LMOD3 | Likely benign | 2107526866 | RCV002158664; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69169089 | 69169089 | | | 69169089 | - | | |
NM_198271.5(LMOD3):c.416A>G (p.Asn139Ser) | 56203 | LMOD3 | Conflicting interpretations of pathogenicity | 150380359 | RCV000560112|RCV002526713; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165|MeSH:D030342,MedGen:C0950123 | 3 | 69169090 | 69169090 | | | 3:g.69169090T>C | ClinGen:CA2488991 | C4015360 616165 Nemaline myopathy 10; | |
NM_198271.5(LMOD3):c.413G>T (p.Ser138Ile) | 56203 | LMOD3 | Uncertain significance | 2092399518 | RCV001229233; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69169093 | 69169093 | | | 3:g.69169093C>A | - | | |
NM_198271.5(LMOD3):c.413G>A (p.Ser138Asn) | 56203 | LMOD3 | Uncertain significance | 2092399518 | RCV002017373; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69169093 | 69169093 | | | 69169093 | - | | |
NM_198271.5(LMOD3):c.410G>A (p.Ser137Asn) | 56203 | LMOD3 | Uncertain significance | 1452040409 | RCV001341785; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69169096 | 69169096 | | | 69169096 | - | | |
NM_198271.5(LMOD3):c.406G>A (p.Gly136Ser) | 56203 | LMOD3 | Uncertain significance | 755727319 | RCV001944582; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69169100 | 69169100 | | | 69169100 | - | | |
NM_198271.5(LMOD3):c.400T>C (p.Ser134Pro) | 56203 | LMOD3 | Uncertain significance | 1283065889 | RCV001232914; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69169106 | 69169106 | | | 3:g.69169106A>G | - | | |
NM_198271.5(LMOD3):c.400T>G (p.Ser134Ala) | 56203 | LMOD3 | Uncertain significance | 1283065889 | RCV001364574; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69169106 | 69169106 | | | 69169106 | - | | |
NM_198271.5(LMOD3):c.392A>G (p.Lys131Arg) | 56203 | LMOD3 | Uncertain significance | 779719094 | RCV002020710; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69169114 | 69169114 | | | 69169114 | - | | |
NM_198271.5(LMOD3):c.390T>G (p.Asn130Lys) | 56203 | LMOD3 | Uncertain significance | 190846774 | RCV001937910; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69169116 | 69169116 | | | 69169116 | - | | |
NM_198271.5(LMOD3):c.385G>T (p.Ala129Ser) | 56203 | LMOD3 | Uncertain significance | 1392468825 | RCV001933199; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69169121 | 69169121 | | | 69169121 | - | | |
NM_198271.5(LMOD3):c.375T>C (p.Asn125=) | 56203 | LMOD3 | Likely benign | 375595641 | RCV000652469; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69169131 | 69169131 | | | 3:g.69169131A>G | ClinGen:CA2489001 | C4015360 616165 Nemaline myopathy 10; | |
NM_198271.5(LMOD3):c.370A>G (p.Asn124Asp) | 56203 | LMOD3 | Uncertain significance | -1 | RCV002988777; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69169136 | 69169136 | | | NC_000003.11:g.69169136T>C | - | | |
NM_198271.5(LMOD3):c.369C>T (p.Leu123=) | 56203 | LMOD3 | Likely benign | 2092399816 | RCV001429196; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69169137 | 69169137 | | | 69169137 | - | | |
NM_198271.5(LMOD3):c.362_366del (p.Glu121fs) | 56203 | LMOD3 | Pathogenic | 1274699363 | RCV000534944; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69169140 | 69169144 | | | 3:g.69169140_69169144del | ClinGen:CA544004937 | C4015360 616165 Nemaline myopathy 10; | |
NM_198271.5(LMOD3):c.366del (p.Lys122fs) | 56203 | LMOD3 | Likely pathogenic | 1368453406 | RCV000986098; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69169140 | 69169140 | | | 3:g.69169140_69169140del | - | | |
NM_198271.5(LMOD3):c.366G>T (p.Lys122Asn) | 56203 | LMOD3 | Uncertain significance | 759804680 | RCV002049426; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69169140 | 69169140 | | | 69169140 | - | | |
NM_198271.5(LMOD3):c.332G>A (p.Arg111His) | 56203 | LMOD3 | Uncertain significance | 370401036 | RCV000556478|RCV003343922; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165|MeSH:D030342,MedGen:C0950123 | 3 | 69169174 | 69169174 | | | NC_000003.11:g.69169174C>T | ClinGen:CA2489011 | C4015360 616165 Nemaline myopathy 10; | |
NM_198271.5(LMOD3):c.331C>T (p.Arg111Cys) | 56203 | LMOD3 | Uncertain significance | 373887230 | RCV001221231; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69169175 | 69169175 | | | 3:g.69169175G>A | - | | |
NM_198271.5(LMOD3):c.321A>G (p.Glu107=) | 56203 | LMOD3 | Likely benign | 754611563 | RCV001428246; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69169185 | 69169185 | | | 69169185 | - | | |
NM_198271.5(LMOD3):c.312G>A (p.Glu104=) | 56203 | LMOD3 | Likely benign | -1 | RCV003041810; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69169194 | 69169194 | | | | - | | |
NM_198271.5(LMOD3):c.307G>A (p.Glu103Lys) | 56203 | LMOD3 | Uncertain significance | -1 | RCV002598338; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69169199 | 69169199 | | | NC_000003.11:g.69169199C>T | - | | |
NM_198271.5(LMOD3):c.296A>G (p.Glu99Gly) | 56203 | LMOD3 | Uncertain significance | 1258289949 | RCV000546225; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69169210 | 69169210 | | | 3:g.69169210T>C | ClinGen:CA353477580 | C4015360 616165 Nemaline myopathy 10; | |
NM_198271.5(LMOD3):c.295-3T>C | 56203 | LMOD3 | Uncertain significance | 377200088 | RCV000807742; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69169214 | 69169214 | | | 3:g.69169214A>G | - | | |
NM_198271.5(LMOD3):c.295-4G>A | 56203 | LMOD3 | Likely benign | 778291725 | RCV002079865; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69169215 | 69169215 | | | 69169215 | - | | |
NM_198271.5(LMOD3):c.295-5T>C | 56203 | LMOD3 | Likely benign | 747449404 | RCV002011149; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69169216 | 69169216 | | | 69169216 | - | | |
NM_198271.5(LMOD3):c.295-20C>G | 56203 | LMOD3 | Likely benign | -1 | RCV002899579; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69169231 | 69169231 | | | NC_000003.11:g.69169231G>C | - | | |
NM_198271.5(LMOD3):c.294+20C>T | 56203 | LMOD3 | Likely benign | -1 | RCV002685491; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69171224 | 69171224 | | | NC_000003.11:g.69171224G>A | - | | |
NM_198271.5(LMOD3):c.294+17G>A | 56203 | LMOD3 | Likely benign | 192602600 | RCV002101487; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69171227 | 69171227 | | | 69171227 | - | | |
NM_198271.5(LMOD3):c.294+15G>A | 56203 | LMOD3 | Likely benign | 200811551 | RCV002206966; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69171229 | 69171229 | | | 69171229 | - | | |
NM_198271.5(LMOD3):c.292G>A (p.Glu98Lys) | 56203 | LMOD3 | Uncertain significance | 1467437318 | RCV000690235; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69171246 | 69171246 | | | 3:g.69171246C>T | - | C4015360 616165 Nemaline myopathy 10; | |
NM_198271.5(LMOD3):c.278_288del (p.Thr93fs) | 56203 | LMOD3 | Pathogenic | -1 | RCV002582199; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69171250 | 69171260 | | | NC_000003.11:g.69171251_69171261del | - | | |
NM_198271.5(LMOD3):c.276C>T (p.Val92=) | 56203 | LMOD3 | Likely benign | 1436647116 | RCV002176129; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69171262 | 69171262 | | | 69171262 | - | | |
NM_198271.5(LMOD3):c.272C>T (p.Pro91Leu) | 56203 | LMOD3 | Uncertain significance | -1 | RCV002581524; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69171266 | 69171266 | | | NC_000003.11:g.69171266G>A | - | | |
NM_198271.5(LMOD3):c.266G>A (p.Arg89Gln) | 56203 | LMOD3 | Uncertain significance | 771330798 | RCV000800407; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69171272 | 69171272 | | | 3:g.69171272C>T | - | | |
NM_198271.5(LMOD3):c.263A>T (p.Glu88Val) | 56203 | LMOD3 | Uncertain significance | 1289180080 | RCV002023770; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69171275 | 69171275 | | | 69171275 | - | | |
NM_198271.5(LMOD3):c.253C>A (p.Leu85Met) | 56203 | LMOD3 | Benign/Likely benign | 80113271 | RCV000501024|RCV000962031|RCV001618715; | N | MedGen:CN169374|MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165|MedGen:C3661900 | 3 | 69171285 | 69171285 | | | NC_000003.11:g.69171285G>T | ClinGen:CA2489043 | CN169374 not specified; | |
NM_198271.5(LMOD3):c.252_253delinsAA (p.Met84_Leu85delinsIleMet) | 56203 | LMOD3 | Benign | 1553688177 | RCV000532478; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69171285 | 69171286 | | | NC_000003.11:g.69171285_69171286delinsTT | ClinGen:CA658657321 | C4015360 616165 Nemaline myopathy 10; | |
NM_198271.5(LMOD3):c.252G>A (p.Met84Ile) | 56203 | LMOD3 | Benign/Likely benign | 78574883 | RCV000502166|RCV000962032|RCV001613321; | N | MedGen:CN169374|MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165|MedGen:C3661900 | 3 | 69171286 | 69171286 | | | NC_000003.11:g.69171286C>T | ClinGen:CA2489044 | CN169374 not specified; | |
NM_198271.5(LMOD3):c.248G>A (p.Arg83His) | 56203 | LMOD3 | Benign | 35740823 | RCV000558600|RCV001613369; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165|MedGen:C3661900 | 3 | 69171290 | 69171290 | | | 3:g.69171290C>T | ClinGen:CA2489046 | C4015360 616165 Nemaline myopathy 10; | |
NM_198271.5(LMOD3):c.247C>T (p.Arg83Cys) | 56203 | LMOD3 | Conflicting interpretations of pathogenicity | 200367429 | RCV000875474|RCV001759656; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165|MedGen:C3661900 | 3 | 69171291 | 69171291 | | | 3:g.69171291G>A | - | | |
NM_198271.5(LMOD3):c.230G>T (p.Trp77Leu) | 56203 | LMOD3 | Uncertain significance | 2092410842 | RCV001969579; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69171308 | 69171308 | | | 69171308 | - | | |
NM_198271.5(LMOD3):c.226T>C (p.Tyr76His) | 56203 | LMOD3 | Uncertain significance | -1 | RCV002846286; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69171312 | 69171312 | | | NC_000003.11:g.69171312A>G | - | | |
NM_198271.5(LMOD3):c.214G>A (p.Val72Ile) | 56203 | LMOD3 | Uncertain significance | -1 | RCV003134086; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69171324 | 69171324 | | | NC_000003.11:g.69171324C>T | - | | |
NM_198271.5(LMOD3):c.203A>G (p.His68Arg) | 56203 | LMOD3 | Uncertain significance | 752432695 | RCV000652463; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69171335 | 69171335 | | | NC_000003.11:g.69171335T>C | ClinGen:CA2489053 | C4015360 616165 Nemaline myopathy 10; | |
NM_198271.5(LMOD3):c.200A>G (p.Asn67Ser) | 56203 | LMOD3 | Likely benign | 570247132 | RCV000543646; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69171338 | 69171338 | | | 3:g.69171338T>C | ClinGen:CA2489054 | C4015360 616165 Nemaline myopathy 10; | |
NM_198271.5(LMOD3):c.186G>A (p.Pro62=) | 56203 | LMOD3 | Likely benign | 757791893 | RCV000533448; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69171352 | 69171352 | | | 3:g.69171352C>T | ClinGen:CA2489057 | C4015360 616165 Nemaline myopathy 10; | |
NM_198271.5(LMOD3):c.171A>G (p.Gln57=) | 56203 | LMOD3 | Likely benign | 756313861 | RCV001418711; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69171367 | 69171367 | | | 69171367 | - | | |
NM_198271.5(LMOD3):c.169C>A (p.Gln57Lys) | 56203 | LMOD3 | Uncertain significance | 1559663262 | RCV000697981; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69171369 | 69171369 | | | 3:g.69171369G>T | - | C4015360 616165 Nemaline myopathy 10; | |
NM_198271.5(LMOD3):c.166G>A (p.Asp56Asn) | 56203 | LMOD3 | Uncertain significance | 1469953832 | RCV001334738; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69171372 | 69171372 | | | 69171372 | - | | |
NM_198271.5(LMOD3):c.160C>G (p.Gln54Glu) | 56203 | LMOD3 | Uncertain significance | 780274932 | RCV000808728; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69171378 | 69171378 | | | 3:g.69171378G>C | - | | |
NM_198271.5(LMOD3):c.155T>C (p.Met52Thr) | 56203 | LMOD3 | Uncertain significance | 1252489316 | RCV001246108; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69171383 | 69171383 | | | 3:g.69171383A>G | - | | |
NM_198271.5(LMOD3):c.154del (p.Gly51_Met52insTer) | 56203 | LMOD3 | Pathogenic | 1369933918 | RCV002004895; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69171384 | 69171384 | | | 69171383 | - | | |
NM_198271.5(LMOD3):c.150G>A (p.Val50=) | 56203 | LMOD3 | Uncertain significance | 371717342 | RCV001053936; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69171388 | 69171388 | | | 3:g.69171388C>T | - | | |
NM_198271.5(LMOD3):c.149T>A (p.Val50Glu) | 56203 | LMOD3 | Uncertain significance | 2092411499 | RCV001209541; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69171389 | 69171389 | | | 3:g.69171389A>T | - | | |
NM_198271.5(LMOD3):c.148G>A (p.Val50Met) | 56203 | LMOD3 | Uncertain significance | 144761436 | RCV001069320|RCV001799731|RCV003346299; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165|MedGen:C3661900|MeSH:D030342,MedGen:C0950123 | 3 | 69171390 | 69171390 | | | 3:g.69171390C>T | - | | |
NM_198271.5(LMOD3):c.147C>T (p.Pro49=) | 56203 | LMOD3 | Likely benign | 184423475 | RCV000652470; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69171391 | 69171391 | | | 3:g.69171391G>A | ClinGen:CA2489064 | C4015360 616165 Nemaline myopathy 10; | |
NM_198271.5(LMOD3):c.142C>G (p.Leu48Val) | 56203 | LMOD3 | Uncertain significance | 777262094 | RCV001070220; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69171396 | 69171396 | | | 3:g.69171396G>C | - | | |
NM_198271.5(LMOD3):c.138dup (p.Ser47fs) | 56203 | LMOD3 | Pathogenic | 727502797 | RCV000149595; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69171399 | 69171400 | | | 3:g.69171399_69171400insG | ClinGen:CA214785,OMIM:616112.0001 | C4015360 616165 Nemaline myopathy 10; | |
NM_198271.5(LMOD3):c.138C>T (p.Pro46=) | 56203 | LMOD3 | Likely benign | 776597543 | RCV001476243; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69171400 | 69171400 | | | 69171400 | - | | |
NM_198271.5(LMOD3):c.137C>T (p.Pro46Leu) | 56203 | LMOD3 | Uncertain significance | -1 | RCV002923365; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69171401 | 69171401 | | | NC_000003.11:g.69171401G>A | - | | |
NM_198271.5(LMOD3):c.135C>T (p.Asp45=) | 56203 | LMOD3 | Benign/Likely benign | 138906041 | RCV000537176|RCV001550693; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165|MedGen:C3661900 | 3 | 69171403 | 69171403 | | | 3:g.69171403G>A | ClinGen:CA2489069 | C4015360 616165 Nemaline myopathy 10; | |
NM_198271.5(LMOD3):c.132T>C (p.Pro44=) | 56203 | LMOD3 | Benign | 774850879 | RCV000652467; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69171406 | 69171406 | | | NC_000003.11:g.69171406A>G | ClinGen:CA2489070 | C4015360 616165 Nemaline myopathy 10; | |
NM_198271.5(LMOD3):c.129C>T (p.Ala43=) | 56203 | LMOD3 | Likely benign | 201709177 | RCV000549594|RCV001555376; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165|MedGen:CN517202 | 3 | 69171409 | 69171409 | | | 3:g.69171409G>A | ClinGen:CA2489071 | C4015360 616165 Nemaline myopathy 10; | |
NM_198271.5(LMOD3):c.127G>A (p.Ala43Thr) | 56203 | LMOD3 | Uncertain significance | 2092411822 | RCV001334736; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69171411 | 69171411 | | | 69171411 | - | | |
NM_198271.5(LMOD3):c.123C>T (p.Val41=) | 56203 | LMOD3 | Likely benign | 373026196 | RCV000652468; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69171415 | 69171415 | | | NC_000003.11:g.69171415G>A | ClinGen:CA2489074 | C4015360 616165 Nemaline myopathy 10; | |
NM_198271.5(LMOD3):c.117G>C (p.Met39Ile) | 56203 | LMOD3 | Uncertain significance | 2092411983 | RCV001069132; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69171421 | 69171421 | | | 3:g.69171421C>G | - | | |
NM_198271.5(LMOD3):c.116T>C (p.Met39Thr) | 56203 | LMOD3 | Uncertain significance | -1 | RCV002968125; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69171422 | 69171422 | | | NC_000003.11:g.69171422A>G | - | | |
NM_198271.5(LMOD3):c.114A>G (p.Glu38=) | 56203 | LMOD3 | Likely benign | 2107528263 | RCV001937550; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69171424 | 69171424 | | | 69171424 | - | | |
NM_198271.5(LMOD3):c.112G>T (p.Glu38Ter) | 56203 | LMOD3 | Pathogenic | -1 | RCV003054525; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69171426 | 69171426 | | | NC_000003.11:g.69171426C>A | - | | |
NM_198271.5(LMOD3):c.111G>A (p.Ser37=) | 56203 | LMOD3 | Likely benign | 756673570 | RCV001502255; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69171427 | 69171427 | | | 69171427 | - | | |
NM_198271.5(LMOD3):c.110C>G (p.Ser37Trp) | 56203 | LMOD3 | Uncertain significance | 572092252 | RCV001347932; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69171428 | 69171428 | | | 69171428 | - | | |
NM_198271.5(LMOD3):c.110C>T (p.Ser37Leu) | 56203 | LMOD3 | Uncertain significance | 572092252 | RCV001942752; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69171428 | 69171428 | | | 69171428 | - | | |
NM_198271.5(LMOD3):c.102del (p.Glu34fs) | 56203 | LMOD3 | Pathogenic | 2092412254 | RCV001212493; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69171436 | 69171436 | | | 3:g.69171436_69171436del | - | | |
NM_198271.5(LMOD3):c.96G>T (p.Leu32=) | 56203 | LMOD3 | Likely benign | -1 | RCV002913588; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69171442 | 69171442 | | | | - | | |
NM_198271.5(LMOD3):c.80_95del (p.Asn26_Leu27insTer) | 56203 | LMOD3 | Pathogenic | 1212229943 | RCV001953774; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69171443 | 69171458 | | | 69171442 | - | | |
NM_198271.5(LMOD3):c.89A>C (p.Glu30Ala) | 56203 | LMOD3 | Uncertain significance | 1314021691 | RCV000813394; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69171449 | 69171449 | | | 3:g.69171449T>G | - | | |
NM_198271.5(LMOD3):c.76A>G (p.Asn26Asp) | 56203 | LMOD3 | Uncertain significance | 541421744 | RCV001878481; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69171462 | 69171462 | | | 69171462 | - | | |
NM_198271.5(LMOD3):c.56A>G (p.Asn19Ser) | 56203 | LMOD3 | Uncertain significance | 769663073 | RCV001218476; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69171482 | 69171482 | | | 3:g.69171482T>C | - | | |
NM_198271.5(LMOD3):c.54T>C (p.Ile18=) | 56203 | LMOD3 | Likely benign | 1311578143 | RCV001398052; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69171484 | 69171484 | | | 69171484 | - | | |
NM_198271.5(LMOD3):c.52A>G (p.Ile18Val) | 56203 | LMOD3 | Uncertain significance | 1165265351 | RCV001069928; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69171486 | 69171486 | | | 3:g.69171486T>C | - | | |
NM_198271.5(LMOD3):c.46GAG[1] (p.Glu17del) | 56203 | LMOD3 | Uncertain significance | 770015687 | RCV001320005; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69171487 | 69171489 | | | 69171486 | - | | |
NM_198271.5(LMOD3):c.48G>A (p.Glu16=) | 56203 | LMOD3 | Likely benign | -1 | RCV003063193; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69171490 | 69171490 | | | | - | | |
NM_198271.5(LMOD3):c.43G>C (p.Asp15His) | 56203 | LMOD3 | Uncertain significance | 762330680 | RCV002036625; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69171495 | 69171495 | | | 69171495 | - | | |
NM_198271.5(LMOD3):c.43G>A (p.Asp15Asn) | 56203 | LMOD3 | Uncertain significance | -1 | RCV002624246; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69171495 | 69171495 | | | NC_000003.11:g.69171495C>T | - | | |
NM_198271.5(LMOD3):c.42C>T (p.Leu14=) | 56203 | LMOD3 | Likely benign | 555650704 | RCV000874765; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69171496 | 69171496 | | | 3:g.69171496G>A | - | | |
NM_198271.5(LMOD3):c.39_41del (p.Leu14del) | 56203 | LMOD3 | Benign | 139192915 | RCV000549842|RCV001539876; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165|MedGen:CN517202 | 3 | 69171497 | 69171499 | | | 3:g.69171497_69171499del | ClinGen:CA2489093 | C4015360 616165 Nemaline myopathy 10; | |
NM_198271.5(LMOD3):c.26A>G (p.Asp9Gly) | 56203 | LMOD3 | Uncertain significance | -1 | RCV002296495; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69171512 | 69171512 | | | 69171512 | - | | |
NM_198271.5(LMOD3):c.23C>G (p.Ser8Ter) | 56203 | LMOD3 | Likely pathogenic | 2092413018 | RCV001328828; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69171515 | 69171515 | | | 69171515 | - | | |
NM_198271.5(LMOD3):c.17G>C (p.Arg6Thr) | 56203 | LMOD3 | Uncertain significance | 1185485203 | RCV001898508; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69171521 | 69171521 | | | 69171521 | - | | |
NM_198271.5(LMOD3):c.17G>T (p.Arg6Ile) | 56203 | LMOD3 | Uncertain significance | -1 | RCV002607467; | N | MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165 | 3 | 69171521 | 69171521 | | | NC_000003.11:g.69171521C>A | - | | |