Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | NC_000004.12:g.(?_183663858)_(183712654_?)del | 60684 | TRAPPC11 | Pathogenic | -1 | RCV001032900; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184585011 | 184633807 | na | na | -1 | - | | |
NC_000004.11:g.(?_184585021)_(184633797_?)dup | 60684 | TRAPPC11 | Uncertain significance | -1 | RCV001982655; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184585021 | 184633797 | na | na | -1 | - | | |
NC_000004.11:g.(?_184585021)_(184633797_?)del | 60684 | TRAPPC11 | Pathogenic | -1 | RCV001953408; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184585021 | 184633797 | na | na | -1 | - | | |
NM_021942.6(TRAPPC11):c.16T>C (p.Trp6Arg) | 60684 | TRAPPC11 | Uncertain significance | -1 | RCV001985450; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184585036 | 184585036 | T | C | 184585036 | - | | |
NM_021942.6(TRAPPC11):c.43C>T (p.Arg15Trp) | 60684 | TRAPPC11 | Uncertain significance | rs532605756 | RCV001345609; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184585063 | 184585063 | C | T | 184585063 | - | | |
NM_021942.6(TRAPPC11):c.44G>A (p.Arg15Gln) | 60684 | TRAPPC11 | Uncertain significance | rs368097747 | RCV001215616; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184585064 | 184585064 | G | A | 4:g.184585064G>A | - | | |
NM_021942.6(TRAPPC11):c.49A>C (p.Met17Leu) | 60684 | TRAPPC11 | Uncertain significance | -1 | RCV002029079; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184585069 | 184585069 | A | C | 184585069 | - | | |
NM_021942.6(TRAPPC11):c.66A>G (p.Leu22=) | 60684 | TRAPPC11 | Likely benign | rs776826270 | RCV000525088; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184585086 | 184585086 | A | G | 4:g.184585086A>G | ClinGen:CA3151472 | C3809236 615356 Limb-girdle muscular dystrophy, type 2S; | |
NM_021942.6(TRAPPC11):c.75G>A (p.Leu25=) | 60684 | TRAPPC11 | Uncertain significance | rs1444239174 | RCV001051722; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184585095 | 184585095 | G | A | 4:g.184585095G>A | - | | |
NM_021942.6(TRAPPC11):c.86A>G (p.Tyr29Cys) | 60684 | TRAPPC11 | Uncertain significance | rs1734703097 | RCV001054396; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184585106 | 184585106 | A | G | 4:g.184585106A>G | - | | |
NM_021942.6(TRAPPC11):c.96C>G (p.Val32=) | 60684 | TRAPPC11 | Likely benign | rs774010916 | RCV000973829|RCV001497106; | N | MedGen:CN517202|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184585116 | 184585116 | C | G | 4:g.184585116C>G | - | | |
NM_021942.6(TRAPPC11):c.100C>A (p.Arg34=) | 60684 | TRAPPC11 | Likely benign | -1 | RCV001470361; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184585120 | 184585120 | C | A | 184585120 | - | | |
NM_021942.6(TRAPPC11):c.106G>A (p.Val36Ile) | 60684 | TRAPPC11 | Uncertain significance | -1 | RCV001884868; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184585126 | 184585126 | G | A | 184585126 | - | | |
NM_021942.6(TRAPPC11):c.106G>C (p.Val36Leu) | 60684 | TRAPPC11 | Uncertain significance | -1 | RCV001872971; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184585126 | 184585126 | G | C | 184585126 | - | | |
NM_021942.6(TRAPPC11):c.114C>T (p.Asp38=) | 60684 | TRAPPC11 | Likely benign | -1 | RCV001467100; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184585134 | 184585134 | C | T | 184585134 | - | | |
NM_021942.6(TRAPPC11):c.117C>G (p.Ala39=) | 60684 | TRAPPC11 | Benign/Likely benign | rs145842147 | RCV000249846|RCV000651618|RCV001081295; | N | MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184585137 | 184585137 | C | G | NC_000004.11:g.184585137C>G | ClinGen:CA3151483 | C3809236 615356 Limb-girdle muscular dystrophy, type 2S; | |
NM_021942.6(TRAPPC11):c.130C>T (p.Arg44Trp) | 60684 | TRAPPC11 | Uncertain significance | -1 | RCV001757892|RCV001882827; | N | MedGen:CN517202|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184585150 | 184585150 | C | T | 184585150 | - | | |
NM_021942.6(TRAPPC11):c.142C>T (p.Arg48Ter) | 60684 | TRAPPC11 | Pathogenic | rs150331292 | RCV000416446; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184585162 | 184585162 | C | T | 4:g.184585162C>T | ClinGen:CA16044220 | C3809236 615356 Limb-girdle muscular dystrophy, type 2S; | |
NM_021942.6(TRAPPC11):c.142C>G (p.Arg48Gly) | 60684 | TRAPPC11 | Uncertain significance | rs150331292 | RCV001241969; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184585162 | 184585162 | C | G | 4:g.184585162C>G | - | | |
NM_021942.6(TRAPPC11):c.143G>A (p.Arg48Gln) | 60684 | TRAPPC11 | Uncertain significance | rs1473309875 | RCV000696131; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184585163 | 184585163 | G | A | 4:g.184585163G>A | - | C3809236 615356 Limb-girdle muscular dystrophy, type 2S; | |
NM_021942.6(TRAPPC11):c.145G>C (p.Val49Leu) | 60684 | TRAPPC11 | Benign | rs141909783 | RCV000242200|RCV000530759|RCV000993344; | N | MedGen:CN169374|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840|MedGen:CN517202 | 4 | 184585165 | 184585165 | G | C | 4:g.184585165G>C | ClinGen:CA3151491 | C3809236 615356 Limb-girdle muscular dystrophy, type 2S; | |
NM_021942.6(TRAPPC11):c.150A>G (p.Pro50=) | 60684 | TRAPPC11 | Likely benign | -1 | RCV002076776; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184585170 | 184585170 | A | G | 184585170 | - | | |
NM_021942.6(TRAPPC11):c.151A>G (p.Ile51Val) | 60684 | TRAPPC11 | Uncertain significance | rs141053214 | RCV001056164; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184585171 | 184585171 | A | G | 4:g.184585171A>G | - | | |
NM_021942.6(TRAPPC11):c.161A>G (p.Lys54Arg) | 60684 | TRAPPC11 | Uncertain significance | -1 | RCV001733715; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184585181 | 184585181 | A | G | 184585181 | - | | |
NM_021942.6(TRAPPC11):c.183G>A (p.Glu61=) | 60684 | TRAPPC11 | Likely benign | rs144878889 | RCV000966650|RCV002066400; | N | MedGen:CN517202|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184585203 | 184585203 | G | A | 4:g.184585203G>A | - | | |
NM_021942.6(TRAPPC11):c.190A>G (p.Lys64Glu) | 60684 | TRAPPC11 | Uncertain significance | rs1734713616 | RCV001337449; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184585210 | 184585210 | A | G | 184585210 | - | | |
NM_021942.6(TRAPPC11):c.204+1G>C | 60684 | TRAPPC11 | Likely pathogenic | rs1734714805 | RCV001223573; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184585225 | 184585225 | G | C | 4:g.184585225G>C | - | | |
NM_021942.6(TRAPPC11):c.204+7G>T | 60684 | TRAPPC11 | Likely benign | -1 | RCV002149646; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184585231 | 184585231 | G | T | 184585231 | - | | |
NM_021942.6(TRAPPC11):c.204+17G>A | 60684 | TRAPPC11 | Benign/Likely benign | rs200658266 | RCV000251755|RCV002058314; | N | MedGen:CN169374|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184585241 | 184585241 | G | A | 4:g.184585241G>A | ClinGen:CA3151502 | CN169374 not specified; | |
NM_021942.6(TRAPPC11):c.205-10A>G | 60684 | TRAPPC11 | Uncertain significance | rs746348297 | RCV000596084|RCV001854059; | N | MedGen:CN517202|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184587400 | 184587400 | A | G | 4:g.184587400A>G | ClinGen:CA3151530 | CN169374 not specified; | |
NM_021942.6(TRAPPC11):c.205-10A>T | 60684 | TRAPPC11 | Likely benign | -1 | RCV001501574; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184587400 | 184587400 | A | T | 184587400 | - | | |
NM_021942.6(TRAPPC11):c.211T>C (p.Ser71Pro) | 60684 | TRAPPC11 | Uncertain significance | rs1734877199 | RCV001217323; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184587416 | 184587416 | T | C | 4:g.184587416T>C | - | | |
NM_021942.6(TRAPPC11):c.212C>T (p.Ser71Leu) | 60684 | TRAPPC11 | Uncertain significance | -1 | RCV001912774; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184587417 | 184587417 | C | T | 184587417 | - | | |
NM_021942.6(TRAPPC11):c.219G>C (p.Glu73Asp) | 60684 | TRAPPC11 | Benign/Likely benign | rs138760818 | RCV000242095|RCV000543943|RCV001558527; | N | MedGen:CN169374|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840|MedGen:CN517202 | 4 | 184587424 | 184587424 | G | C | NC_000004.11:g.184587424G>C | ClinGen:CA3151533 | C3809236 615356 Limb-girdle muscular dystrophy, type 2S; | |
NM_021942.6(TRAPPC11):c.219G>T (p.Glu73Asp) | 60684 | TRAPPC11 | Uncertain significance | -1 | RCV001942483; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184587424 | 184587424 | G | T | 184587424 | - | | |
NM_021942.6(TRAPPC11):c.222G>T (p.Trp74Cys) | 60684 | TRAPPC11 | Uncertain significance | -1 | RCV001941419; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184587427 | 184587427 | G | T | 184587427 | - | | |
NM_021942.6(TRAPPC11):c.225C>T (p.Tyr75=) | 60684 | TRAPPC11 | Likely benign | -1 | RCV002168127; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184587430 | 184587430 | C | T | 184587430 | - | | |
NM_021942.6(TRAPPC11):c.226A>G (p.Ile76Val) | 60684 | TRAPPC11 | Uncertain significance | -1 | RCV002025597; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184587431 | 184587431 | A | G | 184587431 | - | | |
NM_021942.6(TRAPPC11):c.248C>G (p.Thr83Ser) | 60684 | TRAPPC11 | Uncertain significance | rs1024182354 | RCV000518291|RCV001364831; | N | MedGen:CN169374|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184587453 | 184587453 | C | G | 4:g.184587453C>G | ClinGen:CA111834994 | CN169374 not specified; | |
NM_021942.6(TRAPPC11):c.270G>C (p.Leu90=) | 60684 | TRAPPC11 | Benign/Likely benign | rs60142264 | RCV000540618|RCV001546278|RCV001662591; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840|MedGen:CN517202|MedGen:CN169374 | 4 | 184587475 | 184587475 | G | C | 4:g.184587475G>C | ClinGen:CA3151540 | C3809236 615356 Limb-girdle muscular dystrophy, type 2S; | |
NM_021942.6(TRAPPC11):c.270G>A (p.Leu90=) | 60684 | TRAPPC11 | Likely benign | -1 | RCV001432889; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184587475 | 184587475 | G | A | 184587475 | - | | |
NM_021942.6(TRAPPC11):c.276G>A (p.Leu92=) | 60684 | TRAPPC11 | Likely benign | -1 | RCV001493444; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184587481 | 184587481 | G | A | 184587481 | - | | |
NM_021942.6(TRAPPC11):c.282A>C (p.Pro94=) | 60684 | TRAPPC11 | Likely benign | rs148105529 | RCV000249257|RCV000529135|RCV001552666; | N | MedGen:CN169374|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840|MedGen:CN517202 | 4 | 184587487 | 184587487 | A | C | 4:g.184587487A>C | ClinGen:CA3151542 | C3809236 615356 Limb-girdle muscular dystrophy, type 2S; | |
NM_021942.6(TRAPPC11):c.284C>T (p.Ala95Val) | 60684 | TRAPPC11 | Uncertain significance | rs868075355 | RCV001214164; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184587489 | 184587489 | C | T | 4:g.184587489C>T | - | | |
NM_021942.6(TRAPPC11):c.297G>A (p.Val99=) | 60684 | TRAPPC11 | Likely benign | rs756264295 | RCV000906981; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184587502 | 184587502 | G | A | 4:g.184587502G>A | - | | |
NM_021942.6(TRAPPC11):c.349T>C (p.Cys117Arg) | 60684 | TRAPPC11 | Uncertain significance | -1 | RCV002005520; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184587554 | 184587554 | T | C | 184587554 | - | | |
NM_021942.6(TRAPPC11):c.351C>T (p.Cys117=) | 60684 | TRAPPC11 | Likely benign | rs372764730 | RCV000993348|RCV001454148; | N | MedGen:CN517202|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184587556 | 184587556 | C | T | 4:g.184587556C>T | - | | |
NM_021942.6(TRAPPC11):c.352G>A (p.Ala118Thr) | 60684 | TRAPPC11 | Uncertain significance | rs577423330 | RCV001068491; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184587557 | 184587557 | G | A | 4:g.184587557G>A | - | | |
NM_021942.6(TRAPPC11):c.359G>A (p.Arg120Lys) | 60684 | TRAPPC11 | Uncertain significance | rs367769488 | RCV000809333; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184587564 | 184587564 | G | A | 4:g.184587564G>A | - | | |
NM_021942.6(TRAPPC11):c.374+12T>A | 60684 | TRAPPC11 | Likely benign | -1 | RCV002182207; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184587591 | 184587591 | T | A | 184587591 | - | | |
NM_021942.6(TRAPPC11):c.375-8C>T | 60684 | TRAPPC11 | Likely benign | rs750824619 | RCV000651614; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184588205 | 184588205 | C | T | 4:g.184588205C>T | ClinGen:CA3151567 | C3809236 615356 Limb-girdle muscular dystrophy, type 2S; | |
NM_021942.6(TRAPPC11):c.375-3C>T | 60684 | TRAPPC11 | Uncertain significance | -1 | RCV001370006; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184588210 | 184588210 | C | T | 184588210 | - | | |
NM_021942.6(TRAPPC11):c.386A>G (p.Gln129Arg) | 60684 | TRAPPC11 | Uncertain significance | rs1734920268 | RCV001066393; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184588224 | 184588224 | A | G | 4:g.184588224A>G | - | | |
NM_021942.6(TRAPPC11):c.399A>G (p.Thr133=) | 60684 | TRAPPC11 | Likely benign | rs774078744 | RCV000876904; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184588237 | 184588237 | A | G | 4:g.184588237A>G | - | | |
NM_021942.6(TRAPPC11):c.404T>A (p.Val135Asp) | 60684 | TRAPPC11 | Conflicting interpretations of pathogenicity | -1 | RCV001559467|RCV002032634; | N | MedGen:CN517202|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184588242 | 184588242 | T | A | 184588242 | - | | |
NM_021942.6(TRAPPC11):c.405T>G (p.Val135=) | 60684 | TRAPPC11 | Likely benign | rs375901783 | RCV000908553; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184588243 | 184588243 | T | G | 4:g.184588243T>G | - | | |
NM_021942.6(TRAPPC11):c.407C>T (p.Ala136Val) | 60684 | TRAPPC11 | Uncertain significance | rs1472931579 | RCV000814423; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184588245 | 184588245 | C | T | 4:g.184588245C>T | - | | |
NM_021942.6(TRAPPC11):c.408A>G (p.Ala136=) | 60684 | TRAPPC11 | Likely benign | -1 | RCV001493754; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184588246 | 184588246 | A | G | 184588246 | - | | |
NM_021942.6(TRAPPC11):c.421C>A (p.Gln141Lys) | 60684 | TRAPPC11 | Uncertain significance | rs1734921670 | RCV001067221; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184588259 | 184588259 | C | A | 4:g.184588259C>A | - | | |
NM_021942.6(TRAPPC11):c.432C>T (p.Thr144=) | 60684 | TRAPPC11 | Likely benign | rs1579160317 | RCV000975722; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184588270 | 184588270 | C | T | 4:g.184588270C>T | - | | |
NM_021942.6(TRAPPC11):c.433C>G (p.Pro145Ala) | 60684 | TRAPPC11 | Uncertain significance | rs747596215 | RCV000812530; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184588271 | 184588271 | C | G | 4:g.184588271C>G | - | | |
NM_021942.6(TRAPPC11):c.445+8A>C | 60684 | TRAPPC11 | Likely benign | -1 | RCV002122312; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184588291 | 184588291 | A | C | 184588291 | - | | |
NM_021942.6(TRAPPC11):c.445+10G>A | 60684 | TRAPPC11 | Likely benign | rs371903617 | RCV000873753; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184588293 | 184588293 | G | A | 4:g.184588293G>A | - | | |
NM_021942.6(TRAPPC11):c.445+19A>G | 60684 | TRAPPC11 | Likely benign | -1 | RCV002210522; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184588302 | 184588302 | A | G | 184588302 | - | | |
NM_021942.6(TRAPPC11):c.446-6C>T | 60684 | TRAPPC11 | Uncertain significance | rs201044687 | RCV001221456; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184589150 | 184589150 | C | T | 4:g.184589150C>T | - | | |
NM_021942.6(TRAPPC11):c.450A>G (p.Glu150=) | 60684 | TRAPPC11 | Likely benign | -1 | RCV001473778; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184589160 | 184589160 | A | G | 184589160 | - | | |
NM_021942.6(TRAPPC11):c.451G>A (p.Asp151Asn) | 60684 | TRAPPC11 | Uncertain significance | -1 | RCV001930389; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184589161 | 184589161 | G | A | 184589161 | - | | |
NM_021942.6(TRAPPC11):c.464C>T (p.Ser155Leu) | 60684 | TRAPPC11 | Likely pathogenic | rs868721699 | RCV000985111; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184589174 | 184589174 | C | T | 4:g.184589174C>T | - | | |
NM_021942.6(TRAPPC11):c.465A>C (p.Ser155=) | 60684 | TRAPPC11 | Likely benign | -1 | RCV001428873; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184589175 | 184589175 | A | C | 184589175 | - | | |
NM_021942.6(TRAPPC11):c.468A>G (p.Glu156=) | 60684 | TRAPPC11 | Likely benign | rs745593996 | RCV000877631; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184589178 | 184589178 | A | G | 4:g.184589178A>G | - | | |
NM_021942.6(TRAPPC11):c.487A>G (p.Asn163Asp) | 60684 | TRAPPC11 | Uncertain significance | rs775567168 | RCV001339848; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184589197 | 184589197 | A | G | 184589197 | - | | |
NM_021942.6(TRAPPC11):c.503C>T (p.Ser168Leu) | 60684 | TRAPPC11 | Uncertain significance | -1 | RCV002024685; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184589213 | 184589213 | C | T | 184589213 | - | | |
NM_021942.6(TRAPPC11):c.512_515del (p.Ser171fs) | 60684 | TRAPPC11 | Pathogenic | -1 | RCV001783900; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184589221 | 184589224 | GTCTT | G | 184589220 | - | | |
NM_021942.6(TRAPPC11):c.512C>A (p.Ser171Tyr) | 60684 | TRAPPC11 | Uncertain significance | rs1328868472 | RCV001055750; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184589222 | 184589222 | C | A | 4:g.184589222C>A | - | | |
NM_021942.6(TRAPPC11):c.518_521del (p.Phe173fs) | 60684 | TRAPPC11 | Pathogenic | rs771717941 | RCV001336555; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184589223 | 184589226 | CTTTG | C | 184589222 | - | | |
NM_021942.6(TRAPPC11):c.525G>A (p.Leu175=) | 60684 | TRAPPC11 | Likely benign | -1 | RCV001441046; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184589235 | 184589235 | G | A | 184589235 | - | | |
NM_021942.6(TRAPPC11):c.528G>C (p.Pro176=) | 60684 | TRAPPC11 | Likely benign | rs766450086 | RCV000979897|RCV001448441; | N | MedGen:CN517202|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184589238 | 184589238 | G | C | 4:g.184589238G>C | - | | |
NM_021942.6(TRAPPC11):c.528G>A (p.Pro176=) | 60684 | TRAPPC11 | Likely benign | -1 | RCV002103591; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184589238 | 184589238 | G | A | 184589238 | - | | |
NM_021942.6(TRAPPC11):c.552T>C (p.Tyr184=) | 60684 | TRAPPC11 | Likely benign | -1 | RCV001402035; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184589262 | 184589262 | T | C | 184589262 | - | | |
NM_021942.6(TRAPPC11):c.560+7A>G | 60684 | TRAPPC11 | Likely benign | -1 | RCV002099847; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184589277 | 184589277 | A | G | 184589277 | - | | |
NM_021942.6(TRAPPC11):c.561-11G>A | 60684 | TRAPPC11 | Benign | -1 | RCV002132204; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184595855 | 184595855 | G | A | 184595855 | - | | |
NM_021942.6(TRAPPC11):c.561-10T>C | 60684 | TRAPPC11 | Likely benign | -1 | RCV001497401; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184595856 | 184595856 | T | C | 184595856 | - | | |
NM_021942.6(TRAPPC11):c.562T>C (p.Leu188=) | 60684 | TRAPPC11 | Likely benign | rs767836308 | RCV000874276; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184595867 | 184595867 | T | C | 4:g.184595867T>C | - | | |
NM_021942.6(TRAPPC11):c.581A>G (p.Glu194Gly) | 60684 | TRAPPC11 | Uncertain significance | rs1554007320 | RCV000662049; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184595886 | 184595886 | A | G | 4:g.184595886A>G | - | C4517996 Autosomal recessive limb girdle muscular dystrophy type 2S; | |
NM_021942.6(TRAPPC11):c.585T>G (p.His195Gln) | 60684 | TRAPPC11 | Uncertain significance | rs1411666786 | RCV000688244; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184595890 | 184595890 | T | G | 4:g.184595890T>G | - | C3809236 615356 Limb-girdle muscular dystrophy, type 2S; | |
NM_021942.6(TRAPPC11):c.619G>A (p.Val207Met) | 60684 | TRAPPC11 | Uncertain significance | rs201181808 | RCV000697544; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184595924 | 184595924 | G | A | 4:g.184595924G>A | - | C3809236 615356 Limb-girdle muscular dystrophy, type 2S; | |
NM_021942.6(TRAPPC11):c.630_631del (p.His210fs) | 60684 | TRAPPC11 | Pathogenic | -1 | RCV001927055; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184595934 | 184595935 | CAT | C | 184595933 | - | | |
NM_021942.6(TRAPPC11):c.642G>T (p.Leu214Phe) | 60684 | TRAPPC11 | Uncertain significance | rs1579173461 | RCV001040924; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184595947 | 184595947 | G | T | 4:g.184595947G>T | - | | |
NM_021942.6(TRAPPC11):c.659A>T (p.Gln220Leu) | 60684 | TRAPPC11 | Uncertain significance | rs1561035054 | RCV000698646; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184595964 | 184595964 | A | T | 4:g.184595964A>T | - | C3809236 615356 Limb-girdle muscular dystrophy, type 2S; | |
NM_021942.6(TRAPPC11):c.660+3G>A | 60684 | TRAPPC11 | Conflicting interpretations of pathogenicity | rs377549138 | RCV000705918|RCV001546854; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840|MedGen:CN517202 | 4 | 184595968 | 184595968 | G | A | 4:g.184595968G>A | - | C3809236 615356 Limb-girdle muscular dystrophy, type 2S; | |
NM_021942.6(TRAPPC11):c.660+4C>T | 60684 | TRAPPC11 | Uncertain significance | rs559118514 | RCV000651601; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184595969 | 184595969 | C | T | 4:g.184595969C>T | ClinGen:CA3151644 | C3809236 615356 Limb-girdle muscular dystrophy, type 2S; | |
NM_021942.6(TRAPPC11):c.660+5G>T | 60684 | TRAPPC11 | Uncertain significance | rs770891745 | RCV001068260; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184595970 | 184595970 | G | T | 4:g.184595970G>T | - | | |
NM_021942.6(TRAPPC11):c.660+5G>A | 60684 | TRAPPC11 | Uncertain significance | rs770891745 | RCV001047323; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184595970 | 184595970 | G | A | 4:g.184595970G>A | - | | |
NM_021942.6(TRAPPC11):c.660+9T>C | 60684 | TRAPPC11 | Likely benign | -1 | RCV001442128; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184595974 | 184595974 | T | C | 184595974 | - | | |
NM_021942.6(TRAPPC11):c.660+18A>G | 60684 | TRAPPC11 | Benign/Likely benign | -1 | RCV001512034|RCV001581165; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840|MedGen:CN517202 | 4 | 184595983 | 184595983 | A | G | 184595983 | - | | |
NM_021942.6(TRAPPC11):c.661-20A>T | 60684 | TRAPPC11 | Likely benign | -1 | RCV002128833; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184596297 | 184596297 | A | T | 184596297 | - | | |
NM_021942.6(TRAPPC11):c.661-13del | 60684 | TRAPPC11 | Benign | -1 | RCV002110197; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184596298 | 184596298 | AT | A | 184596297 | - | | |
NM_021942.6(TRAPPC11):c.661-8C>T | 60684 | TRAPPC11 | Likely benign | -1 | RCV001428426; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184596309 | 184596309 | C | T | 184596309 | - | | |
NM_021942.6(TRAPPC11):c.661-3del | 60684 | TRAPPC11 | Benign | rs140871779 | RCV000243406|RCV001510409|RCV001660347; | N | MedGen:CN169374|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840|MedGen:CN517202 | 4 | 184596310 | 184596310 | CT | C | NC_000004.11:g.184596314del | ClinGen:CA3151671 | CN169374 not specified; | |
NM_021942.6(TRAPPC11):c.661-1G>T | 60684 | TRAPPC11 | Pathogenic | rs886041052 | RCV000258796; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184596316 | 184596316 | G | T | NC_000004.11:g.184596316G>T | ClinGen:CA10602644,OMIM:614138.0003 | C3809236 615356 Limb-girdle muscular dystrophy, type 2S; | |
NM_021942.6(TRAPPC11):c.675G>A (p.Arg225=) | 60684 | TRAPPC11 | Benign | rs73872657 | RCV000537391|RCV001662592|RCV001675927; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840|MedGen:CN169374|MedGen:CN517202 | 4 | 184596331 | 184596331 | G | A | NC_000004.11:g.184596331G>A | ClinGen:CA3151674 | C3809236 615356 Limb-girdle muscular dystrophy, type 2S; | |
NM_021942.6(TRAPPC11):c.701G>A (p.Ser234Asn) | 60684 | TRAPPC11 | Uncertain significance | rs1735354186 | RCV001345019; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184596357 | 184596357 | G | A | 184596357 | - | | |
NM_021942.6(TRAPPC11):c.702T>C (p.Ser234=) | 60684 | TRAPPC11 | Likely benign | -1 | RCV001431296; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184596358 | 184596358 | T | C | 184596358 | - | | |
NM_021942.6(TRAPPC11):c.706T>A (p.Leu236Met) | 60684 | TRAPPC11 | Uncertain significance | -1 | RCV001893988; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184596362 | 184596362 | T | A | 184596362 | - | | |
NM_021942.6(TRAPPC11):c.706T>C (p.Leu236=) | 60684 | TRAPPC11 | Likely benign | -1 | RCV001975375; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184596362 | 184596362 | T | C | 184596362 | - | | |
NM_021942.6(TRAPPC11):c.713A>C (p.Gln238Pro) | 60684 | TRAPPC11 | Uncertain significance | -1 | RCV001872307; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184596369 | 184596369 | A | C | 184596369 | - | | |
NM_021942.6(TRAPPC11):c.723A>G (p.Gln241=) | 60684 | TRAPPC11 | Likely benign | -1 | RCV001436482; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184596379 | 184596379 | A | G | 184596379 | - | | |
NM_021942.6(TRAPPC11):c.729G>A (p.Ala243=) | 60684 | TRAPPC11 | Likely benign | -1 | RCV002081898; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184596385 | 184596385 | G | A | 184596385 | - | | |
NM_021942.6(TRAPPC11):c.734+13T>G | 60684 | TRAPPC11 | Likely benign | -1 | RCV002120021; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184596403 | 184596403 | T | G | 184596403 | - | | |
NM_021942.6(TRAPPC11):c.734+15C>T | 60684 | TRAPPC11 | Likely benign | -1 | RCV002168497; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184596405 | 184596405 | C | T | 184596405 | - | | |
NM_021942.6(TRAPPC11):c.734+17A>G | 60684 | TRAPPC11 | Benign | -1 | RCV002118820; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184596407 | 184596407 | A | G | 184596407 | - | | |
NM_021942.6(TRAPPC11):c.735-12C>T | 60684 | TRAPPC11 | Likely benign | -1 | RCV002187126; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184598599 | 184598599 | C | T | 184598599 | - | | |
NM_021942.6(TRAPPC11):c.735-2A>G | 60684 | TRAPPC11 | Uncertain significance | rs1554007706 | RCV000651606; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184598609 | 184598609 | A | G | 4:g.184598609A>G | ClinGen:CA358861774 | C3809236 615356 Limb-girdle muscular dystrophy, type 2S; | |
NM_021942.6(TRAPPC11):c.737A>G (p.Asn246Ser) | 60684 | TRAPPC11 | Uncertain significance | rs1414459418 | RCV001309317; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184598613 | 184598613 | A | G | 184598613 | - | | |
NM_021942.6(TRAPPC11):c.743G>C (p.Arg248Thr) | 60684 | TRAPPC11 | Uncertain significance | rs1441893342 | RCV000651610; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184598619 | 184598619 | G | C | 4:g.184598619G>C | ClinGen:CA358861799 | C3809236 615356 Limb-girdle muscular dystrophy, type 2S; | |
NM_021942.6(TRAPPC11):c.747C>T (p.Thr249=) | 60684 | TRAPPC11 | Likely benign | rs540347620 | RCV000879473|RCV001471939; | N | MedGen:CN517202|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184598623 | 184598623 | C | T | 4:g.184598623C>T | - | | |
NM_021942.6(TRAPPC11):c.748G>A (p.Ala250Thr) | 60684 | TRAPPC11 | Uncertain significance | rs368397954 | RCV001344008; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184598624 | 184598624 | G | A | 184598624 | - | | |
NM_021942.6(TRAPPC11):c.760G>A (p.Val254Ile) | 60684 | TRAPPC11 | Uncertain significance | rs759142358 | RCV001325785; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184598636 | 184598636 | G | A | 184598636 | - | | |
NM_021942.6(TRAPPC11):c.763C>T (p.His255Tyr) | 60684 | TRAPPC11 | Uncertain significance | rs1237348034 | RCV001239141; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184598639 | 184598639 | C | T | 4:g.184598639C>T | - | | |
NM_021942.6(TRAPPC11):c.765C>T (p.His255=) | 60684 | TRAPPC11 | Likely benign | rs767131430 | RCV000910336; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184598641 | 184598641 | C | T | 4:g.184598641C>T | - | | |
NM_021942.6(TRAPPC11):c.770T>G (p.Leu257Trp) | 60684 | TRAPPC11 | Uncertain significance | -1 | RCV001948315; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184598646 | 184598646 | T | G | 184598646 | - | | |
NM_021942.6(TRAPPC11):c.778C>G (p.His260Asp) | 60684 | TRAPPC11 | Uncertain significance | -1 | RCV001942702; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184598654 | 184598654 | C | G | 184598654 | - | | |
NM_021942.6(TRAPPC11):c.779A>G (p.His260Arg) | 60684 | TRAPPC11 | Uncertain significance | rs764083534 | RCV000651600; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184598655 | 184598655 | A | G | 4:g.184598655A>G | ClinGen:CA3151705 | C3809236 615356 Limb-girdle muscular dystrophy, type 2S; | |
NM_021942.6(TRAPPC11):c.784A>G (p.Thr262Ala) | 60684 | TRAPPC11 | Uncertain significance | -1 | RCV001922296; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184598660 | 184598660 | A | G | 184598660 | - | | |
NM_021942.6(TRAPPC11):c.829A>G (p.Lys277Glu) | 60684 | TRAPPC11 | Uncertain significance | rs368689327 | RCV001036881; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184598705 | 184598705 | A | G | 4:g.184598705A>G | - | | |
NM_021942.6(TRAPPC11):c.832-16A>G | 60684 | TRAPPC11 | Uncertain significance | -1 | RCV001952340; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184600490 | 184600490 | A | G | 184600490 | - | | |
NM_021942.6(TRAPPC11):c.832-9A>G | 60684 | TRAPPC11 | Benign/Likely benign | rs114748616 | RCV000517840|RCV000525876|RCV001591174; | N | MedGen:CN169374|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840|MedGen:CN517202 | 4 | 184600497 | 184600497 | A | G | 4:g.184600497A>G | ClinGen:CA3151723 | C3809236 615356 Limb-girdle muscular dystrophy, type 2S; | |
NM_021942.6(TRAPPC11):c.832-3C>A | 60684 | TRAPPC11 | Uncertain significance | rs368922437 | RCV000550013; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184600503 | 184600503 | C | A | NC_000004.11:g.184600503C>A | ClinGen:CA3151724 | C3809236 615356 Limb-girdle muscular dystrophy, type 2S; | |
NM_021942.6(TRAPPC11):c.855C>T (p.His285=) | 60684 | TRAPPC11 | Likely benign | rs139419771 | RCV000922731; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184600529 | 184600529 | C | T | 4:g.184600529C>T | - | | |
NM_021942.6(TRAPPC11):c.855C>A (p.His285Gln) | 60684 | TRAPPC11 | Uncertain significance | rs139419771 | RCV001339399; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184600529 | 184600529 | C | A | 184600529 | - | | |
NM_021942.6(TRAPPC11):c.861C>T (p.Thr287=) | 60684 | TRAPPC11 | Likely benign | -1 | RCV002090323; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184600535 | 184600535 | C | T | 184600535 | - | | |
NM_021942.6(TRAPPC11):c.885C>T (p.Phe295=) | 60684 | TRAPPC11 | Likely benign | rs371401679 | RCV000944705|RCV001414043; | N | MedGen:CN517202|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184600559 | 184600559 | C | T | 4:g.184600559C>T | - | | |
NM_021942.6(TRAPPC11):c.897C>A (p.Ile299=) | 60684 | TRAPPC11 | Benign | rs62357990 | RCV000248348|RCV001517374|RCV001722341; | N | MedGen:CN169374|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840|MedGen:CN517202 | 4 | 184600571 | 184600571 | C | A | 4:g.184600571C>A | ClinGen:CA3151737 | CN169374 not specified; | |
NM_021942.6(TRAPPC11):c.897C>T (p.Ile299=) | 60684 | TRAPPC11 | Likely benign | -1 | RCV002150746; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184600571 | 184600571 | C | T | 184600571 | - | | |
NM_021942.6(TRAPPC11):c.898G>A (p.Asp300Asn) | 60684 | TRAPPC11 | Uncertain significance | -1 | RCV001971314; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184600572 | 184600572 | G | A | 184600572 | - | | |
NM_021942.6(TRAPPC11):c.899A>T (p.Asp300Val) | 60684 | TRAPPC11 | Uncertain significance | rs768253464 | RCV000651611|RCV001756096; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840|MedGen:CN517202 | 4 | 184600573 | 184600573 | A | T | NC_000004.11:g.184600573A>T | ClinGen:CA3151739 | C3809236 615356 Limb-girdle muscular dystrophy, type 2S; | |
NM_021942.6(TRAPPC11):c.902T>G (p.Leu301Trp) | 60684 | TRAPPC11 | Uncertain significance | rs1554007926 | RCV000626270; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184600576 | 184600576 | T | G | 4:g.184600576T>G | ClinGen:CA358862288 | C3809236 615356 Limb-girdle muscular dystrophy, type 2S; | |
NM_021942.6(TRAPPC11):c.918T>C (p.Ile306=) | 60684 | TRAPPC11 | Likely benign | -1 | RCV001423224; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184600592 | 184600592 | T | C | 184600592 | - | | |
NM_021942.6(TRAPPC11):c.918T>G (p.Ile306Met) | 60684 | TRAPPC11 | Uncertain significance | -1 | RCV001878357; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184600592 | 184600592 | T | G | 184600592 | - | | |
NM_021942.6(TRAPPC11):c.927A>G (p.Ala309=) | 60684 | TRAPPC11 | Benign | rs4241779 | RCV000252950|RCV000829968|RCV001510410; | N | MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184600601 | 184600601 | A | G | NC_000004.11:g.184600601A>G | ClinGen:CA3151745 | CN169374 not specified; | |
NM_021942.6(TRAPPC11):c.931C>G (p.Leu311Val) | 60684 | TRAPPC11 | Conflicting interpretations of pathogenicity | rs148833310 | RCV000518737|RCV000538180|RCV001084206; | N | MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184600605 | 184600605 | C | G | NC_000004.11:g.184600605C>G | ClinGen:CA3151746 | C3809236 615356 Limb-girdle muscular dystrophy, type 2S; | |
NM_021942.6(TRAPPC11):c.942G>A (p.Glu314=) | 60684 | TRAPPC11 | Likely benign | -1 | RCV002142272; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184600616 | 184600616 | G | A | 184600616 | - | | |
NM_021942.6(TRAPPC11):c.944A>G (p.His315Arg) | 60684 | TRAPPC11 | Likely benign | rs533000838 | RCV000952134; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184600618 | 184600618 | A | G | 4:g.184600618A>G | - | | |
NM_021942.6(TRAPPC11):c.948T>G (p.Asp316Glu) | 60684 | TRAPPC11 | Uncertain significance | rs1327422485 | RCV001301729; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184600622 | 184600622 | T | G | 184600622 | - | | |
NM_021942.6(TRAPPC11):c.960T>C (p.Ser320=) | 60684 | TRAPPC11 | Likely benign | -1 | RCV002134151; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184600634 | 184600634 | T | C | 184600634 | - | | |
NM_021942.6(TRAPPC11):c.964C>T (p.Gln322Ter) | 60684 | TRAPPC11 | Likely pathogenic | rs1483190866 | RCV000760888|RCV001784373; | N | MedGen:CN517202|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184600638 | 184600638 | C | T | NC_000004.11:g.184600638C>T | - | | |
NM_021942.6(TRAPPC11):c.965+5G>T | 60684 | TRAPPC11 | Uncertain significance | rs758780741 | RCV000555334; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184600644 | 184600644 | G | T | 4:g.184600644G>T | ClinGen:CA3151753 | C3809236 615356 Limb-girdle muscular dystrophy, type 2S; | |
NM_021942.6(TRAPPC11):c.966-10T>C | 60684 | TRAPPC11 | Likely benign | -1 | RCV001447504; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184601263 | 184601263 | T | C | 184601263 | - | | |
NM_021942.6(TRAPPC11):c.974C>A (p.Ala325Asp) | 60684 | TRAPPC11 | Uncertain significance | rs775652273 | RCV000527797; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184601281 | 184601281 | C | A | NC_000004.11:g.184601281C>A | ClinGen:CA3151765 | C3809236 615356 Limb-girdle muscular dystrophy, type 2S; | |
NM_021942.6(TRAPPC11):c.989T>C (p.Phe330Ser) | 60684 | TRAPPC11 | Uncertain significance | rs1424040999 | RCV001209520; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184601296 | 184601296 | T | C | 4:g.184601296T>C | - | | |
NM_021942.6(TRAPPC11):c.1005G>A (p.Lys335=) | 60684 | TRAPPC11 | Likely benign | -1 | RCV002220503; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184601312 | 184601312 | G | A | 184601312 | - | | |
NM_021942.6(TRAPPC11):c.1043T>G (p.Phe348Cys) | 60684 | TRAPPC11 | Uncertain significance | rs1735605499 | RCV001244115; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184601350 | 184601350 | T | G | 4:g.184601350T>G | - | | |
NM_021942.6(TRAPPC11):c.1046A>G (p.Tyr349Cys) | 60684 | TRAPPC11 | Uncertain significance | -1 | RCV002042172; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184601353 | 184601353 | A | G | 184601353 | - | | |
NM_021942.6(TRAPPC11):c.1051C>T (p.Gln351Ter) | 60684 | TRAPPC11 | Pathogenic | -1 | RCV001942047; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184601358 | 184601358 | C | T | 184601358 | - | | |
NM_021942.6(TRAPPC11):c.1055A>G (p.Gln352Arg) | 60684 | TRAPPC11 | Uncertain significance | rs780363437 | RCV000815468|RCV000998325; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840|MedGen:CN517202 | 4 | 184601362 | 184601362 | A | G | 4:g.184601362A>G | - | | |
NM_021942.6(TRAPPC11):c.1058C>G (p.Ala353Gly) | 60684 | TRAPPC11 | Uncertain significance | rs200078740 | RCV001306714|RCV001760365; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840|MedGen:CN517202 | 4 | 184601365 | 184601365 | C | G | 184601365 | - | | |
NM_021942.6(TRAPPC11):c.1074G>T (p.Gln358His) | 60684 | TRAPPC11 | Uncertain significance | rs1735607583 | RCV001233159; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184601381 | 184601381 | G | T | 4:g.184601381G>T | - | | |
NM_021942.6(TRAPPC11):c.1077G>A (p.Glu359=) | 60684 | TRAPPC11 | Likely benign | -1 | RCV001496617; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184601384 | 184601384 | G | A | 184601384 | - | | |
NM_021942.6(TRAPPC11):c.1085A>T (p.Gln362Leu) | 60684 | TRAPPC11 | Uncertain significance | -1 | RCV002003174; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184601392 | 184601392 | A | T | 184601392 | - | | |
NM_021942.6(TRAPPC11):c.1110C>T (p.His370=) | 60684 | TRAPPC11 | Likely benign | -1 | RCV001466738; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184601417 | 184601417 | C | T | 184601417 | - | | |
NM_021942.6(TRAPPC11):c.1113+2T>G | 60684 | TRAPPC11 | Likely pathogenic | -1 | RCV001783901; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184601422 | 184601422 | T | G | 184601422 | - | | |
NM_021942.6(TRAPPC11):c.1113+16C>T | 60684 | TRAPPC11 | Likely benign | -1 | RCV002110495; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184601436 | 184601436 | C | T | 184601436 | - | | |
NM_021942.6(TRAPPC11):c.1113+17G>A | 60684 | TRAPPC11 | Likely benign | -1 | RCV002117449; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184601437 | 184601437 | G | A | 184601437 | - | | |
NM_021942.6(TRAPPC11):c.1113+19A>G | 60684 | TRAPPC11 | Likely benign | -1 | RCV002106166; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184601439 | 184601439 | A | G | 184601439 | - | | |
NM_021942.6(TRAPPC11):c.1114-3C>T | 60684 | TRAPPC11 | Uncertain significance | rs1579187262 | RCV000814421; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184603882 | 184603882 | C | T | 4:g.184603882C>T | - | | |
NM_021942.6(TRAPPC11):c.1133A>G (p.Asn378Ser) | 60684 | TRAPPC11 | Uncertain significance | rs780991425 | RCV000542350; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184603904 | 184603904 | A | G | 4:g.184603904A>G | ClinGen:CA3151807 | C3809236 615356 Limb-girdle muscular dystrophy, type 2S; | |
NM_021942.6(TRAPPC11):c.1162G>A (p.Val388Ile) | 60684 | TRAPPC11 | Uncertain significance | rs925965846 | RCV000808656; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184603933 | 184603933 | G | A | 4:g.184603933G>A | - | | |
NM_021942.6(TRAPPC11):c.1170C>G (p.Asp390Glu) | 60684 | TRAPPC11 | Uncertain significance | rs1328121937 | RCV001056789; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184603941 | 184603941 | C | G | 4:g.184603941C>G | - | | |
NM_021942.6(TRAPPC11):c.1173T>C (p.Phe391=) | 60684 | TRAPPC11 | Likely benign | -1 | RCV002124140; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184603944 | 184603944 | T | C | 184603944 | - | | |
NM_021942.6(TRAPPC11):c.1176T>C (p.Tyr392=) | 60684 | TRAPPC11 | Likely benign | -1 | RCV001394942; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184603947 | 184603947 | T | C | 184603947 | - | | |
NM_021942.6(TRAPPC11):c.1192C>T (p.Arg398Ter) | 60684 | TRAPPC11 | Pathogenic/Likely pathogenic | rs140403642 | RCV000554957|RCV000825637; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840|Human Phenotype Ontology:HP:0006785,Human Phenotype Ontology:HP:0009066,MONDO:MONDO:0016971,MedGen:C0686353, Orphanet:263 | 4 | 184603963 | 184603963 | C | T | NC_000004.11:g.184603963C>T | ClinGen:CA3151816 | C3809236 615356 Limb-girdle muscular dystrophy, type 2S; | |
NM_021942.6(TRAPPC11):c.1193G>A (p.Arg398Gln) | 60684 | TRAPPC11 | Uncertain significance | rs745588857 | RCV000822559; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184603964 | 184603964 | G | A | 4:g.184603964G>A | - | | |
NM_021942.6(TRAPPC11):c.1198G>A (p.Gly400Arg) | 60684 | TRAPPC11 | Uncertain significance | rs947836057 | RCV001218824; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184603969 | 184603969 | G | A | 4:g.184603969G>A | - | | |
NM_021942.6(TRAPPC11):c.1204C>T (p.Leu402=) | 60684 | TRAPPC11 | Likely benign | -1 | RCV002092364; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184603975 | 184603975 | C | T | 184603975 | - | | |
NM_021942.6(TRAPPC11):c.1207+1G>C | 60684 | TRAPPC11 | Likely pathogenic | rs1735767573 | RCV001233161; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184603979 | 184603979 | G | C | 4:g.184603979G>C | - | | |
NM_021942.6(TRAPPC11):c.1207+15C>T | 60684 | TRAPPC11 | Likely benign | -1 | RCV002137572; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184603993 | 184603993 | C | T | 184603993 | - | | |
NM_021942.6(TRAPPC11):c.1208-5C>T | 60684 | TRAPPC11 | Likely benign | rs185570336 | RCV000874418|RCV001310501; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840|MedGen:CN517202 | 4 | 184605123 | 184605123 | C | T | 4:g.184605123C>T | - | | |
NM_021942.6(TRAPPC11):c.1208-5C>G | 60684 | TRAPPC11 | Uncertain significance | rs185570336 | RCV000985235; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184605123 | 184605123 | C | G | 4:g.184605123C>G | - | | |
NM_021942.6(TRAPPC11):c.1208-4G>A | 60684 | TRAPPC11 | Likely benign | rs200618360 | RCV000952474; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184605124 | 184605124 | G | A | 4:g.184605124G>A | - | | |
NM_021942.6(TRAPPC11):c.1220C>A (p.Ser407Tyr) | 60684 | TRAPPC11 | Uncertain significance | rs375379302 | RCV000538855; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184605140 | 184605140 | C | A | 4:g.184605140C>A | ClinGen:CA3151851 | C3809236 615356 Limb-girdle muscular dystrophy, type 2S; | |
NM_021942.6(TRAPPC11):c.1224T>C (p.Asp408=) | 60684 | TRAPPC11 | Likely benign | rs1023182753 | RCV000898174; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184605144 | 184605144 | T | C | 4:g.184605144T>C | - | | |
NM_021942.6(TRAPPC11):c.1244G>A (p.Gly415Glu) | 60684 | TRAPPC11 | Uncertain significance | rs150383310 | RCV001231058; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184605164 | 184605164 | G | A | 4:g.184605164G>A | - | | |
NM_021942.6(TRAPPC11):c.1277T>C (p.Val426Ala) | 60684 | TRAPPC11 | Uncertain significance | rs201263451 | RCV000696431|RCV001552223; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840|MedGen:CN517202 | 4 | 184605197 | 184605197 | T | C | NC_000004.11:g.184605197T>C | - | C3809236 615356 Limb-girdle muscular dystrophy, type 2S; | |
NM_021942.6(TRAPPC11):c.1287+5G>A | 60684 | TRAPPC11 | Pathogenic/Likely pathogenic | rs397509418 | RCV000054409|RCV000414573|RCV001254697; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840|MedGen:CN517202|MONDO:MONDO:0029136,MedGen:C4748327,OMIM:618138, Orphanet:565837 | 4 | 184605212 | 184605212 | G | A | 4:g.184605212G>A | ClinGen:CA144540,OMIM:614138.0002 | C3809236 615356 Limb-girdle muscular dystrophy, type 2S; | |
NM_021942.6(TRAPPC11):c.1287+10G>A | 60684 | TRAPPC11 | Benign | rs190478555 | RCV000554600; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184605217 | 184605217 | G | A | NC_000004.11:g.184605217G>A | ClinGen:CA3151860 | C3809236 615356 Limb-girdle muscular dystrophy, type 2S; | |
NM_021942.6(TRAPPC11):c.1287+17A>G | 60684 | TRAPPC11 | Likely benign | -1 | RCV002187035; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184605224 | 184605224 | A | G | 184605224 | - | | |
NM_021942.6(TRAPPC11):c.1288-15T>C | 60684 | TRAPPC11 | Likely benign | -1 | RCV002089798; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184605283 | 184605283 | T | C | 184605283 | - | | |
NM_021942.6(TRAPPC11):c.1288-5A>G | 60684 | TRAPPC11 | Likely benign | rs774073046 | RCV000651616|RCV001729673; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840|MedGen:CN517202 | 4 | 184605293 | 184605293 | A | G | NC_000004.11:g.184605293A>G | ClinGen:CA3151874 | C3809236 615356 Limb-girdle muscular dystrophy, type 2S; | |
NM_021942.6(TRAPPC11):c.1291_1297del (p.Glu430_Ile431insTer) | 60684 | TRAPPC11 | Pathogenic | -1 | RCV001953797; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184605301 | 184605307 | GATAATCA | G | 184605300 | - | | |
NM_021942.6(TRAPPC11):c.1296C>T (p.Ile432=) | 60684 | TRAPPC11 | Likely benign | -1 | RCV002146760; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184605306 | 184605306 | C | T | 184605306 | - | | |
NM_021942.6(TRAPPC11):c.1305T>A (p.Leu435=) | 60684 | TRAPPC11 | Likely benign | rs373944670 | RCV000887532; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184605315 | 184605315 | T | A | 4:g.184605315T>A | - | | |
NM_021942.6(TRAPPC11):c.1305T>G (p.Leu435=) | 60684 | TRAPPC11 | Likely benign | rs373944670 | RCV000882132|RCV001474617; | N | MedGen:CN517202|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184605315 | 184605315 | T | G | 4:g.184605315T>G | - | | |
NM_021942.6(TRAPPC11):c.1306C>T (p.Leu436=) | 60684 | TRAPPC11 | Likely benign | -1 | RCV002207577; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184605316 | 184605316 | C | T | 184605316 | - | | |
NM_021942.6(TRAPPC11):c.1337A>G (p.Tyr446Cys) | 60684 | TRAPPC11 | Uncertain significance | rs149572534 | RCV001246227; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184605347 | 184605347 | A | G | 4:g.184605347A>G | - | | |
NM_021942.6(TRAPPC11):c.1337A>T (p.Tyr446Phe) | 60684 | TRAPPC11 | Uncertain significance | -1 | RCV001913270; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184605347 | 184605347 | A | T | 184605347 | - | | |
NM_021942.6(TRAPPC11):c.1341G>A (p.Lys447=) | 60684 | TRAPPC11 | Likely benign | -1 | RCV001392170; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184605351 | 184605351 | G | A | 184605351 | - | | |
NM_021942.6(TRAPPC11):c.1344C>T (p.Cys448=) | 60684 | TRAPPC11 | Likely benign | rs147260246 | RCV000651617|RCV001079069; | N | MedGen:CN517202|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184605354 | 184605354 | C | T | 4:g.184605354C>T | ClinGen:CA3151884 | C3809236 615356 Limb-girdle muscular dystrophy, type 2S; | |
NM_021942.6(TRAPPC11):c.1346C>T (p.Pro449Leu) | 60684 | TRAPPC11 | Uncertain significance | -1 | RCV001915363; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184605356 | 184605356 | C | T | 184605356 | - | | |
NM_021942.6(TRAPPC11):c.1347G>A (p.Pro449=) | 60684 | TRAPPC11 | Likely benign | rs141205658 | RCV000651612; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184605357 | 184605357 | G | A | 4:g.184605357G>A | ClinGen:CA3151886 | C3809236 615356 Limb-girdle muscular dystrophy, type 2S; | |
NM_021942.6(TRAPPC11):c.1366+17G>A | 60684 | TRAPPC11 | Benign/Likely benign | -1 | RCV001568204|RCV002072183; | N | MedGen:CN517202|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184605393 | 184605393 | G | A | 184605393 | - | | |
NM_021942.6(TRAPPC11):c.1367-20A>C | 60684 | TRAPPC11 | Likely benign | -1 | RCV002076008; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184605438 | 184605438 | A | C | 184605438 | - | | |
NM_021942.6(TRAPPC11):c.1367-3T>C | 60684 | TRAPPC11 | Uncertain significance | rs1395631451 | RCV000651615; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184605455 | 184605455 | T | C | NC_000004.11:g.184605455T>C | ClinGen:CA556990468 | C3809236 615356 Limb-girdle muscular dystrophy, type 2S; | |
NM_021942.6(TRAPPC11):c.1381G>T (p.Glu461Ter) | 60684 | TRAPPC11 | Pathogenic | -1 | RCV001967137; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184605472 | 184605472 | G | T | 184605472 | - | | |
NM_021942.6(TRAPPC11):c.1391A>G (p.Tyr464Cys) | 60684 | TRAPPC11 | Uncertain significance | rs1258652109 | RCV001245214; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184605482 | 184605482 | A | G | 4:g.184605482A>G | - | | |
NM_021942.6(TRAPPC11):c.1395C>T (p.Tyr465=) | 60684 | TRAPPC11 | Likely benign | -1 | RCV001437157; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184605486 | 184605486 | C | T | 184605486 | - | | |
NM_021942.6(TRAPPC11):c.1396G>A (p.Ala466Thr) | 60684 | TRAPPC11 | Uncertain significance | -1 | RCV002000867; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184605487 | 184605487 | G | A | 184605487 | - | | |
NM_021942.6(TRAPPC11):c.1401G>A (p.Lys467=) | 60684 | TRAPPC11 | Likely benign | -1 | RCV002120069; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184605492 | 184605492 | G | A | 184605492 | - | | |
NM_021942.6(TRAPPC11):c.1422-18C>T | 60684 | TRAPPC11 | Likely benign | -1 | RCV002213546; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184605831 | 184605831 | C | T | 184605831 | - | | |
NM_021942.6(TRAPPC11):c.1422-10_1422-9del | 60684 | TRAPPC11 | Likely benign | -1 | RCV002196456; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184605838 | 184605839 | GTC | G | 184605837 | - | | |
NM_021942.6(TRAPPC11):c.1422-10C>A | 60684 | TRAPPC11 | Uncertain significance | rs1735874596 | RCV001063697; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184605839 | 184605839 | C | A | 4:g.184605839C>A | - | | |
NM_021942.6(TRAPPC11):c.1422-3G>A | 60684 | TRAPPC11 | Benign/Likely benign | rs73872662 | RCV000530834|RCV001591285|RCV001662590; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840|MedGen:CN517202|MedGen:CN169374 | 4 | 184605846 | 184605846 | G | A | 4:g.184605846G>A | ClinGen:CA3151930 | C3809236 615356 Limb-girdle muscular dystrophy, type 2S; | |
NM_021942.6(TRAPPC11):c.1422G>T (p.Lys474Asn) | 60684 | TRAPPC11 | Uncertain significance | -1 | RCV001359861; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184605849 | 184605849 | G | T | 184605849 | - | | |
NM_021942.6(TRAPPC11):c.1463G>T (p.Trp488Leu) | 60684 | TRAPPC11 | Uncertain significance | rs779673117 | RCV000812211; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184605890 | 184605890 | G | T | 4:g.184605890G>T | - | | |
NM_021942.6(TRAPPC11):c.1466G>A (p.Trp489Ter) | 60684 | TRAPPC11 | Pathogenic | -1 | RCV002037649; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184605893 | 184605893 | G | A | 184605893 | - | | |
NM_021942.6(TRAPPC11):c.1492A>G (p.Thr498Ala) | 60684 | TRAPPC11 | Uncertain significance | -1 | RCV001867442; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184605919 | 184605919 | A | G | 184605919 | - | | |
NM_021942.6(TRAPPC11):c.1497T>C (p.Ala499=) | 60684 | TRAPPC11 | Likely benign | -1 | RCV002206576; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184605924 | 184605924 | T | C | 184605924 | - | | |
NM_021942.6(TRAPPC11):c.1503G>A (p.Lys501=) | 60684 | TRAPPC11 | Benign | rs530411873 | RCV000945973; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184605930 | 184605930 | G | A | 4:g.184605930G>A | - | | |
NM_021942.6(TRAPPC11):c.1507T>C (p.Ser503Pro) | 60684 | TRAPPC11 | Uncertain significance | -1 | RCV001913505; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184605934 | 184605934 | T | C | 184605934 | - | | |
NM_021942.6(TRAPPC11):c.1512C>T (p.Tyr504=) | 60684 | TRAPPC11 | Likely benign | -1 | RCV002213754; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184605939 | 184605939 | C | T | 184605939 | - | | |
NM_021942.6(TRAPPC11):c.1527A>G (p.Leu509=) | 60684 | TRAPPC11 | Likely benign | -1 | RCV001493977; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184605954 | 184605954 | A | G | 184605954 | - | | |
NM_021942.6(TRAPPC11):c.1530G>T (p.Lys510Asn) | 60684 | TRAPPC11 | Uncertain significance | rs139154209 | RCV000805528|RCV001263378; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840|Human Phenotype Ontology:HP:0001509,Human Phenotype Ontology:HP:0003501,Human Phenotype Ontology:HP:0003507,Human Phenotype Ontology:HP:0003512,Human Phenotype Ontology:HP:0003518,Human Phe | 4 | 184605957 | 184605957 | G | T | 4:g.184605957G>T | - | | |
NM_021942.6(TRAPPC11):c.1543T>C (p.Tyr515His) | 60684 | TRAPPC11 | Uncertain significance | rs901204498 | RCV000651602|RCV001756095; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840|MedGen:CN517202 | 4 | 184605970 | 184605970 | T | C | NC_000004.11:g.184605970T>C | ClinGen:CA111850000 | C3809236 615356 Limb-girdle muscular dystrophy, type 2S; | |
NM_021942.6(TRAPPC11):c.1549C>T (p.Leu517=) | 60684 | TRAPPC11 | Likely benign | -1 | RCV001440590; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184605976 | 184605976 | C | T | 184605976 | - | | |
NM_021942.6(TRAPPC11):c.1560T>A (p.Leu520=) | 60684 | TRAPPC11 | Uncertain significance | -1 | RCV002013839; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184605987 | 184605987 | T | A | 184605987 | - | | |
NM_021942.6(TRAPPC11):c.1568-1G>A | 60684 | TRAPPC11 | Likely pathogenic | rs1180079162 | RCV000754740; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184606236 | 184606236 | G | A | NC_000004.11:g.184606236G>A | - | | |
NM_021942.6(TRAPPC11):c.1568-1G>T | 60684 | TRAPPC11 | Pathogenic | rs1180079162 | RCV001336033; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184606236 | 184606236 | G | T | 184606236 | - | | |
NM_021942.6(TRAPPC11):c.1585G>A (p.Asp529Asn) | 60684 | TRAPPC11 | Uncertain significance | rs1735897918 | RCV001307763; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184606254 | 184606254 | G | A | 184606254 | - | | |
NM_021942.6(TRAPPC11):c.1597C>T (p.Arg533Trp) | 60684 | TRAPPC11 | Uncertain significance | -1 | RCV001958028; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184606266 | 184606266 | C | T | 184606266 | - | | |
NM_021942.6(TRAPPC11):c.1611C>T (p.Asn537=) | 60684 | TRAPPC11 | Likely benign | -1 | RCV002117666; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184606280 | 184606280 | C | T | 184606280 | - | | |
NM_021942.6(TRAPPC11):c.1612C>T (p.Leu538Phe) | 60684 | TRAPPC11 | Uncertain significance | -1 | RCV001965193; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184606281 | 184606281 | C | T | 184606281 | - | | |
NM_021942.6(TRAPPC11):c.1615A>G (p.Ile539Val) | 60684 | TRAPPC11 | Uncertain significance | rs1389363919 | RCV001344935; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184606284 | 184606284 | A | G | 184606284 | - | | |
NM_021942.6(TRAPPC11):c.1616T>A (p.Ile539Lys) | 60684 | TRAPPC11 | Uncertain significance | rs1554008768 | RCV000651608; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184606285 | 184606285 | T | A | 4:g.184606285T>A | ClinGen:CA358867958 | C3809236 615356 Limb-girdle muscular dystrophy, type 2S; | |
NM_021942.6(TRAPPC11):c.1618A>G (p.Asn540Asp) | 60684 | TRAPPC11 | Uncertain significance | rs1561045163 | RCV000689942; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184606287 | 184606287 | A | G | 4:g.184606287A>G | - | C3809236 615356 Limb-girdle muscular dystrophy, type 2S; | |
NM_021942.6(TRAPPC11):c.1630-16C>T | 60684 | TRAPPC11 | Likely benign | -1 | RCV002094332; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184606408 | 184606408 | C | T | 184606408 | - | | |
NM_021942.6(TRAPPC11):c.1632T>C (p.Asn544=) | 60684 | TRAPPC11 | Likely benign | -1 | RCV002106689; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184606426 | 184606426 | T | C | 184606426 | - | | |
NM_021942.6(TRAPPC11):c.1639C>A (p.Pro547Thr) | 60684 | TRAPPC11 | Uncertain significance | -1 | RCV002004572; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184606433 | 184606433 | C | A | 184606433 | - | | |
NM_021942.6(TRAPPC11):c.1650A>T (p.Glu550Asp) | 60684 | TRAPPC11 | Uncertain significance | -1 | RCV001895353; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184606444 | 184606444 | A | T | 184606444 | - | | |
NM_021942.6(TRAPPC11):c.1654G>A (p.Asp552Asn) | 60684 | TRAPPC11 | Uncertain significance | rs374195797 | RCV000797982; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184606448 | 184606448 | G | A | 4:g.184606448G>A | - | | |
NM_021942.6(TRAPPC11):c.1661A>G (p.Asp554Gly) | 60684 | TRAPPC11 | Uncertain significance | -1 | RCV001914734; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184606455 | 184606455 | A | G | 184606455 | - | | |
NM_021942.6(TRAPPC11):c.1664T>A (p.Ile555Asn) | 60684 | TRAPPC11 | Uncertain significance | rs752315503 | RCV001067627; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184606458 | 184606458 | T | A | 4:g.184606458T>A | - | | |
NM_021942.6(TRAPPC11):c.1670C>T (p.Ala557Val) | 60684 | TRAPPC11 | Uncertain significance | -1 | RCV001954063; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184606464 | 184606464 | C | T | 184606464 | - | | |
NM_021942.6(TRAPPC11):c.1672G>C (p.Val558Leu) | 60684 | TRAPPC11 | Uncertain significance | -1 | RCV001965761; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184606466 | 184606466 | G | C | 184606466 | - | | |
NM_021942.6(TRAPPC11):c.1703G>A (p.Arg568Gln) | 60684 | TRAPPC11 | Uncertain significance | rs147516606 | RCV000796438; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184606497 | 184606497 | G | A | 4:g.184606497G>A | - | | |
NM_021942.6(TRAPPC11):c.1708T>C (p.Ser570Pro) | 60684 | TRAPPC11 | Uncertain significance | -1 | RCV001369308; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184606502 | 184606502 | T | C | 184606502 | - | | |
NM_021942.6(TRAPPC11):c.1735A>G (p.Ile579Val) | 60684 | TRAPPC11 | Uncertain significance | rs368529822 | RCV000543085; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184606529 | 184606529 | A | G | NC_000004.11:g.184606529A>G | ClinGen:CA111850434 | C3809236 615356 Limb-girdle muscular dystrophy, type 2S; | |
NM_021942.6(TRAPPC11):c.1745A>G (p.Gln582Arg) | 60684 | TRAPPC11 | Uncertain significance | -1 | RCV001547162|RCV001882621; | N | MedGen:CN517202|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184606539 | 184606539 | A | G | 184606539 | - | | |
NM_021942.6(TRAPPC11):c.1762+8G>A | 60684 | TRAPPC11 | Likely benign | rs372102247 | RCV000873229|RCV001457249; | N | MedGen:CN517202|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184606564 | 184606564 | G | A | 4:g.184606564G>A | - | | |
NM_021942.6(TRAPPC11):c.1766A>G (p.Gln589Arg) | 60684 | TRAPPC11 | Uncertain significance | rs146053783 | RCV001215623; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184607774 | 184607774 | A | G | 4:g.184607774A>G | - | | |
NM_021942.6(TRAPPC11):c.1767G>T (p.Gln589His) | 60684 | TRAPPC11 | Uncertain significance | -1 | RCV002042430; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184607775 | 184607775 | G | T | 184607775 | - | | |
NM_021942.6(TRAPPC11):c.1769G>A (p.Cys590Tyr) | 60684 | TRAPPC11 | Uncertain significance | -1 | RCV001924436; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184607777 | 184607777 | G | A | 184607777 | - | | |
NM_021942.6(TRAPPC11):c.1784A>T (p.His595Leu) | 60684 | TRAPPC11 | Uncertain significance | -1 | RCV002036421; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184607792 | 184607792 | A | T | 184607792 | - | | |
NM_021942.6(TRAPPC11):c.1793G>A (p.Ser598Asn) | 60684 | TRAPPC11 | Uncertain significance | rs1735985130 | RCV001038412; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184607801 | 184607801 | G | A | 4:g.184607801G>A | - | | |
NM_021942.6(TRAPPC11):c.1803T>C (p.Val601=) | 60684 | TRAPPC11 | Likely benign | -1 | RCV001450244; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184607811 | 184607811 | T | C | 184607811 | - | | |
NM_021942.6(TRAPPC11):c.1812T>C (p.Pro604=) | 60684 | TRAPPC11 | Likely benign | -1 | RCV002122418; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184607820 | 184607820 | T | C | 184607820 | - | | |
NM_021942.6(TRAPPC11):c.1816C>A (p.Gln606Lys) | 60684 | TRAPPC11 | Uncertain significance | -1 | RCV001888327; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184607824 | 184607824 | C | A | 184607824 | - | | |
NM_021942.6(TRAPPC11):c.1823A>G (p.Asp608Gly) | 60684 | TRAPPC11 | Uncertain significance | -1 | RCV001976240; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184607831 | 184607831 | A | G | 184607831 | - | | |
NM_021942.6(TRAPPC11):c.1837G>C (p.Ala613Pro) | 60684 | TRAPPC11 | Uncertain significance | rs769979581 | RCV001203570; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184607845 | 184607845 | G | C | 4:g.184607845G>C | - | | |
NM_021942.6(TRAPPC11):c.1848A>G (p.Pro616=) | 60684 | TRAPPC11 | Likely benign | -1 | RCV001434685; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184607856 | 184607856 | A | G | 184607856 | - | | |
NM_021942.6(TRAPPC11):c.1893+3A>G | 60684 | TRAPPC11 | Pathogenic | rs886041053 | RCV000258806; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184607904 | 184607904 | A | G | NC_000004.11:g.184607904A>G | ClinGen:CA10602645,OMIM:614138.0004 | C3809236 615356 Limb-girdle muscular dystrophy, type 2S; | |
NM_021942.6(TRAPPC11):c.1893+5T>A | 60684 | TRAPPC11 | Uncertain significance | rs1735992541 | RCV001219050; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184607906 | 184607906 | T | A | 4:g.184607906T>A | - | | |
NM_021942.6(TRAPPC11):c.1893+6G>C | 60684 | TRAPPC11 | Uncertain significance | -1 | RCV001891836; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184607907 | 184607907 | G | C | 184607907 | - | | |
NM_021942.6(TRAPPC11):c.1893+10C>T | 60684 | TRAPPC11 | Likely benign | -1 | RCV002142489; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184607911 | 184607911 | C | T | 184607911 | - | | |
NM_021942.6(TRAPPC11):c.1893+14G>A | 60684 | TRAPPC11 | Likely benign | -1 | RCV002074895; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184607915 | 184607915 | G | A | 184607915 | - | | |
NC_000004.11:g.(?_184612449)_(184633797_?)dup | 60684 | TRAPPC11 | Uncertain significance | -1 | RCV001943163; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184612449 | 184633797 | na | na | -1 | - | | |
NM_021942.6(TRAPPC11):c.1894-18C>T | 60684 | TRAPPC11 | Likely benign | -1 | RCV002138145; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184612451 | 184612451 | C | T | 184612451 | - | | |
NM_021942.6(TRAPPC11):c.1894-16del | 60684 | TRAPPC11 | Likely benign | -1 | RCV002141995; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184612453 | 184612453 | CT | C | 184612452 | - | | |
NM_021942.6(TRAPPC11):c.1894-10C>T | 60684 | TRAPPC11 | Conflicting interpretations of pathogenicity | rs111381550 | RCV000517286|RCV000651620|RCV001496199; | N | MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184612459 | 184612459 | C | T | 4:g.184612459C>T | ClinGen:CA3152047 | C3809236 615356 Limb-girdle muscular dystrophy, type 2S; | |
NM_021942.6(TRAPPC11):c.1894-9C>T | 60684 | TRAPPC11 | Likely benign | -1 | RCV002084872; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184612460 | 184612460 | C | T | 184612460 | - | | |
NM_021942.6(TRAPPC11):c.1894-7T>A | 60684 | TRAPPC11 | Likely benign | -1 | RCV001406931; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184612462 | 184612462 | T | A | 184612462 | - | | |
NM_021942.6(TRAPPC11):c.1895A>G (p.Glu632Gly) | 60684 | TRAPPC11 | Uncertain significance | rs1027270333 | RCV000820200; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184612470 | 184612470 | A | G | 4:g.184612470A>G | - | | |
NM_021942.6(TRAPPC11):c.1901A>G (p.Asn634Ser) | 60684 | TRAPPC11 | Uncertain significance | rs148567547 | RCV000517869|RCV000560192; | N | MedGen:CN517202|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184612476 | 184612476 | A | G | NC_000004.11:g.184612476A>G | ClinGen:CA3152050 | C3809236 615356 Limb-girdle muscular dystrophy, type 2S; | |
NM_021942.6(TRAPPC11):c.1923A>C (p.Glu641Asp) | 60684 | TRAPPC11 | Uncertain significance | rs772936022 | RCV001343740; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184612498 | 184612498 | A | C | 184612498 | - | | |
NM_021942.6(TRAPPC11):c.1934C>T (p.Ala645Val) | 60684 | TRAPPC11 | Uncertain significance | -1 | RCV002008775; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184612509 | 184612509 | C | T | 184612509 | - | | |
NM_021942.6(TRAPPC11):c.1943T>C (p.Val648Ala) | 60684 | TRAPPC11 | Uncertain significance | -1 | RCV001886577; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184612518 | 184612518 | T | C | 184612518 | - | | |
NM_021942.6(TRAPPC11):c.1977A>G (p.Leu659=) | 60684 | TRAPPC11 | Likely benign | -1 | RCV001453542; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184612552 | 184612552 | A | G | 184612552 | - | | |
NM_021942.6(TRAPPC11):c.1978G>C (p.Val660Leu) | 60684 | TRAPPC11 | Benign | rs67383011 | RCV000247199|RCV001521597|RCV001722339; | N | MedGen:CN169374|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840|MedGen:CN517202 | 4 | 184612553 | 184612553 | G | C | NC_000004.11:g.184612553G>C | ClinGen:CA3152060 | CN169374 not specified; | |
NM_021942.6(TRAPPC11):c.1981C>G (p.Pro661Ala) | 60684 | TRAPPC11 | Uncertain significance | rs764163856 | RCV001235710; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184612556 | 184612556 | C | G | 4:g.184612556C>G | - | | |
NM_021942.6(TRAPPC11):c.1999C>T (p.Leu667=) | 60684 | TRAPPC11 | Likely benign | rs185988689 | RCV000904457|RCV001412618; | N | MedGen:CN517202|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184612574 | 184612574 | C | T | 4:g.184612574C>T | - | | |
NM_021942.6(TRAPPC11):c.2014G>C (p.Val672Leu) | 60684 | TRAPPC11 | Uncertain significance | rs1415116624 | RCV000814311; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184612589 | 184612589 | G | C | 4:g.184612589G>C | - | | |
NM_021942.6(TRAPPC11):c.2023del (p.Thr675fs) | 60684 | TRAPPC11 | Likely pathogenic | -1 | RCV001783902; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184612594 | 184612594 | CA | C | 184612593 | - | | |
NM_021942.6(TRAPPC11):c.2050-17dup | 60684 | TRAPPC11 | Likely benign | -1 | RCV002148714; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184614094 | 184614095 | T | TC | 184614094 | - | | |
NM_021942.6(TRAPPC11):c.2050-18C>T | 60684 | TRAPPC11 | Benign | -1 | RCV002139754; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184614095 | 184614095 | C | T | 184614095 | - | | |
NM_021942.6(TRAPPC11):c.2050-16_2050-15insG | 60684 | TRAPPC11 | Likely benign | -1 | RCV002161445; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184614097 | 184614098 | T | TG | 184614097 | - | | |
NM_021942.6(TRAPPC11):c.2050-13T>A | 60684 | TRAPPC11 | Likely benign | -1 | RCV001959807; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184614100 | 184614100 | T | A | 184614100 | - | | |
NM_021942.6(TRAPPC11):c.2050-6T>C | 60684 | TRAPPC11 | Likely benign | -1 | RCV002102214; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184614107 | 184614107 | T | C | 184614107 | - | | |
NM_021942.6(TRAPPC11):c.2050-3T>C | 60684 | TRAPPC11 | Uncertain significance | rs768168477 | RCV001299250; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184614110 | 184614110 | T | C | 184614110 | - | | |
NM_021942.6(TRAPPC11):c.2059_2064del (p.Val687_Asp688del) | 60684 | TRAPPC11 | Uncertain significance | -1 | RCV001964051; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184614122 | 184614127 | AGTGGAT | A | 184614121 | - | | |
NM_021942.6(TRAPPC11):c.2067T>C (p.Leu689=) | 60684 | TRAPPC11 | Likely benign | -1 | RCV001489831; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184614130 | 184614130 | T | C | 184614130 | - | | |
NM_021942.6(TRAPPC11):c.2068G>C (p.Ala690Pro) | 60684 | TRAPPC11 | Uncertain significance | -1 | RCV002048437; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184614131 | 184614131 | G | C | 184614131 | - | | |
NM_021942.6(TRAPPC11):c.2070T>C (p.Ala690=) | 60684 | TRAPPC11 | Likely benign | -1 | RCV001433430; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184614133 | 184614133 | T | C | 184614133 | - | | |
NM_021942.6(TRAPPC11):c.2071C>G (p.Leu691Val) | 60684 | TRAPPC11 | Uncertain significance | rs777107611 | RCV000695259; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184614134 | 184614134 | C | G | NC_000004.11:g.184614134C>G | - | C3809236 615356 Limb-girdle muscular dystrophy, type 2S; | |
NM_021942.6(TRAPPC11):c.2077A>C (p.Asn693His) | 60684 | TRAPPC11 | Uncertain significance | -1 | RCV001983829; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184614140 | 184614140 | A | C | 184614140 | - | | |
NM_021942.6(TRAPPC11):c.2084C>T (p.Thr695Met) | 60684 | TRAPPC11 | Uncertain significance | rs759325090 | RCV000651604; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184614147 | 184614147 | C | T | NC_000004.11:g.184614147C>T | ClinGen:CA3152103 | C3809236 615356 Limb-girdle muscular dystrophy, type 2S; | |
NM_021942.6(TRAPPC11):c.2085G>A (p.Thr695=) | 60684 | TRAPPC11 | Likely benign | -1 | RCV001503630; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184614148 | 184614148 | G | A | 184614148 | - | | |
NM_021942.6(TRAPPC11):c.2087G>A (p.Gly696Glu) | 60684 | TRAPPC11 | Uncertain significance | -1 | RCV002032810|RCV001764870; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840|MedGen:CN517202 | 4 | 184614150 | 184614150 | G | A | 184614150 | - | | |
NM_021942.6(TRAPPC11):c.2095G>A (p.Val699Met) | 60684 | TRAPPC11 | Uncertain significance | -1 | RCV001362479; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184614158 | 184614158 | G | A | 184614158 | - | | |
NM_021942.6(TRAPPC11):c.2113G>A (p.Gly705Arg) | 60684 | TRAPPC11 | Uncertain significance | -1 | RCV001948395; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184614176 | 184614176 | G | A | 184614176 | - | | |
NM_021942.6(TRAPPC11):c.2145A>C (p.Glu715Asp) | 60684 | TRAPPC11 | Uncertain significance | rs139034513 | RCV001347802; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184614208 | 184614208 | A | C | 184614208 | - | | |
NM_021942.6(TRAPPC11):c.2146G>T (p.Ala716Ser) | 60684 | TRAPPC11 | Uncertain significance | -1 | RCV001920300; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184614209 | 184614209 | G | T | 184614209 | - | | |
NM_021942.6(TRAPPC11):c.2147C>G (p.Ala716Gly) | 60684 | TRAPPC11 | Conflicting interpretations of pathogenicity | rs143990563 | RCV000531617|RCV000858939; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840|MedGen:CN517202 | 4 | 184614210 | 184614210 | C | G | 4:g.184614210C>G | ClinGen:CA3152115 | C3809236 615356 Limb-girdle muscular dystrophy, type 2S; | |
NM_021942.6(TRAPPC11):c.2147C>A (p.Ala716Asp) | 60684 | TRAPPC11 | Uncertain significance | -1 | RCV001881287; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184614210 | 184614210 | C | A | 184614210 | - | | |
NM_021942.6(TRAPPC11):c.2162G>A (p.Arg721Gln) | 60684 | TRAPPC11 | Uncertain significance | -1 | RCV001951962; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184614225 | 184614225 | G | A | 184614225 | - | | |
NM_021942.6(TRAPPC11):c.2168dup (p.Lys724fs) | 60684 | TRAPPC11 | Pathogenic | rs1554009901 | RCV000522192|RCV001055785; | N | MedGen:CN517202|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184614228 | 184614229 | C | CT | NC_000004.11:g.184614231dup | ClinGen:CA658657408 | CN517202 not provided; | |
NM_021942.6(TRAPPC11):c.2169C>G (p.Phe723Leu) | 60684 | TRAPPC11 | Conflicting interpretations of pathogenicity | rs146441514 | RCV000864624|RCV001084772; | N | MedGen:CN517202|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184614232 | 184614232 | C | G | 4:g.184614232C>G | - | | |
NM_021942.6(TRAPPC11):c.2177G>T (p.Arg726Leu) | 60684 | TRAPPC11 | Uncertain significance | -1 | RCV001967629; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184614240 | 184614240 | G | T | 184614240 | - | | |
NM_021942.6(TRAPPC11):c.2180C>T (p.Pro727Leu) | 60684 | TRAPPC11 | Uncertain significance | -1 | RCV001952105; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184614243 | 184614243 | C | T | 184614243 | - | | |
NM_021942.6(TRAPPC11):c.2187A>G (p.Leu729=) | 60684 | TRAPPC11 | Likely benign | -1 | RCV002128894; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184614250 | 184614250 | A | G | 184614250 | - | | |
NM_021942.6(TRAPPC11):c.2196T>C (p.Asn732=) | 60684 | TRAPPC11 | Likely benign | rs375844076 | RCV000876303|RCV001593106; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840|MedGen:CN517202 | 4 | 184614259 | 184614259 | T | C | 4:g.184614259T>C | - | | |
NM_021942.6(TRAPPC11):c.2216T>C (p.Ile739Thr) | 60684 | TRAPPC11 | Uncertain significance | -1 | RCV002035580; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184614279 | 184614279 | T | C | 184614279 | - | | |
NM_021942.6(TRAPPC11):c.2218A>G (p.Ile740Val) | 60684 | TRAPPC11 | Uncertain significance | -1 | RCV002041629; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184614281 | 184614281 | A | G | 184614281 | - | | |
NM_021942.6(TRAPPC11):c.2220A>G (p.Ile740Met) | 60684 | TRAPPC11 | Uncertain significance | -1 | RCV001363845; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184614283 | 184614283 | A | G | 184614283 | - | | |
NM_021942.6(TRAPPC11):c.2229A>T (p.Ala743=) | 60684 | TRAPPC11 | Likely benign | -1 | RCV002168550; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184614292 | 184614292 | A | T | 184614292 | - | | |
NM_021942.6(TRAPPC11):c.2231G>A (p.Ser744Asn) | 60684 | TRAPPC11 | Uncertain significance | rs1736342623 | RCV001327558; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184614294 | 184614294 | G | A | 184614294 | - | | |
NM_021942.6(TRAPPC11):c.2234C>A (p.Thr745Lys) | 60684 | TRAPPC11 | Uncertain significance | rs768000138 | RCV000703895|RCV000993345; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840|MedGen:CN517202 | 4 | 184614297 | 184614297 | C | A | 4:g.184614297C>A | - | C3809236 615356 Limb-girdle muscular dystrophy, type 2S; | |
NM_021942.6(TRAPPC11):c.2234C>T (p.Thr745Ile) | 60684 | TRAPPC11 | Uncertain significance | -1 | RCV001733716; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184614297 | 184614297 | C | T | 184614297 | - | | |
NM_021942.6(TRAPPC11):c.2237+8T>G | 60684 | TRAPPC11 | Likely benign | -1 | RCV001492178; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184614308 | 184614308 | T | G | 184614308 | - | | |
NM_021942.6(TRAPPC11):c.2238-4A>G | 60684 | TRAPPC11 | Uncertain significance | rs1736369470 | RCV001344904; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184614738 | 184614738 | A | G | 184614738 | - | | |
NM_021942.6(TRAPPC11):c.2242A>G (p.Ile748Val) | 60684 | TRAPPC11 | Uncertain significance | rs368432060 | RCV000812412; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184614746 | 184614746 | A | G | 4:g.184614746A>G | - | | |
NM_021942.6(TRAPPC11):c.2252T>G (p.Val751Gly) | 60684 | TRAPPC11 | Uncertain significance | rs1381726046 | RCV001342936; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184614756 | 184614756 | T | G | 184614756 | - | | |
NM_021942.6(TRAPPC11):c.2256A>G (p.Pro752=) | 60684 | TRAPPC11 | Likely benign | -1 | RCV002114137; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184614760 | 184614760 | A | G | 184614760 | - | | |
NM_021942.6(TRAPPC11):c.2270A>G (p.His757Arg) | 60684 | TRAPPC11 | Uncertain significance | -1 | RCV001900044; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184614774 | 184614774 | A | G | 184614774 | - | | |
NM_021942.6(TRAPPC11):c.2281dup (p.Glu761fs) | 60684 | TRAPPC11 | Pathogenic | -1 | RCV001999917; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184614784 | 184614785 | T | TG | 184614784 | - | | |
NM_021942.6(TRAPPC11):c.2282A>T (p.Glu761Val) | 60684 | TRAPPC11 | Uncertain significance | rs1554009994 | RCV000556472; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184614786 | 184614786 | A | T | 4:g.184614786A>T | ClinGen:CA358871228 | C3809236 615356 Limb-girdle muscular dystrophy, type 2S; | |
NM_021942.6(TRAPPC11):c.2284C>A (p.Pro762Thr) | 60684 | TRAPPC11 | Uncertain significance | -1 | RCV002010204; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184614788 | 184614788 | C | A | 184614788 | - | | |
NM_021942.6(TRAPPC11):c.2286C>T (p.Pro762=) | 60684 | TRAPPC11 | Likely benign | rs372771070 | RCV000876425|RCV001409466; | N | MedGen:CN517202|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184614790 | 184614790 | C | T | 4:g.184614790C>T | - | | |
NM_021942.6(TRAPPC11):c.2287C>T (p.Pro763Ser) | 60684 | TRAPPC11 | Likely benign | -1 | RCV001434918; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184614791 | 184614791 | C | T | 184614791 | - | | |
NM_021942.6(TRAPPC11):c.2306T>C (p.Met769Thr) | 60684 | TRAPPC11 | Uncertain significance | rs1236250238 | RCV000805662; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184614810 | 184614810 | T | C | 4:g.184614810T>C | - | | |
NM_021942.6(TRAPPC11):c.2307G>T (p.Met769Ile) | 60684 | TRAPPC11 | Uncertain significance | rs1554010022 | RCV000538046; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184614811 | 184614811 | G | T | 4:g.184614811G>T | ClinGen:CA358871347 | C3809236 615356 Limb-girdle muscular dystrophy, type 2S; | |
NM_021942.6(TRAPPC11):c.2312G>A (p.Cys771Tyr) | 60684 | TRAPPC11 | Uncertain significance | rs1441521643 | RCV001223650; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184614816 | 184614816 | G | A | 4:g.184614816G>A | - | | |
NM_021942.6(TRAPPC11):c.2328T>C (p.Val776=) | 60684 | TRAPPC11 | Likely benign | rs1380950836 | RCV000920635|RCV001439501; | N | MedGen:CN517202|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184614832 | 184614832 | T | C | 4:g.184614832T>C | - | | |
NM_021942.6(TRAPPC11):c.2334C>T (p.Ser778=) | 60684 | TRAPPC11 | Likely benign | -1 | RCV002085055; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184614838 | 184614838 | C | T | 184614838 | - | | |
NM_021942.6(TRAPPC11):c.2336A>G (p.His779Arg) | 60684 | TRAPPC11 | Uncertain significance | -1 | RCV001986428; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184614840 | 184614840 | A | G | 184614840 | - | | |
NM_021942.6(TRAPPC11):c.2346C>A (p.Thr782=) | 60684 | TRAPPC11 | Likely benign | -1 | RCV001447634; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184614850 | 184614850 | C | A | 184614850 | - | | |
NM_021942.6(TRAPPC11):c.2355A>G (p.Arg785=) | 60684 | TRAPPC11 | Likely benign | -1 | RCV002089413; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184614859 | 184614859 | A | G | 184614859 | - | | |
NM_021942.6(TRAPPC11):c.2358T>C (p.Asp786=) | 60684 | TRAPPC11 | Likely benign | -1 | RCV001478800; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184614862 | 184614862 | T | C | 184614862 | - | | |
NM_021942.6(TRAPPC11):c.2364G>A (p.Lys788=) | 60684 | TRAPPC11 | Likely benign | -1 | RCV002122174; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184614868 | 184614868 | G | A | 184614868 | - | | |
NM_021942.6(TRAPPC11):c.2370C>T (p.Thr790=) | 60684 | TRAPPC11 | Benign | rs4862234 | RCV000247514|RCV000829969|RCV001510411; | N | MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184614874 | 184614874 | C | T | NC_000004.11:g.184614874C>T | ClinGen:CA3152163 | CN169374 not specified; | |
NM_021942.6(TRAPPC11):c.2371G>T (p.Ala791Ser) | 60684 | TRAPPC11 | Uncertain significance | rs1302946870 | RCV001064779; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184614875 | 184614875 | G | T | 4:g.184614875G>T | - | | |
NM_021942.6(TRAPPC11):c.2384C>T (p.Pro795Leu) | 60684 | TRAPPC11 | Uncertain significance | -1 | RCV002009534; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184614888 | 184614888 | C | T | 184614888 | - | | |
NM_021942.6(TRAPPC11):c.2387-16A>G | 60684 | TRAPPC11 | Likely benign | -1 | RCV002095758; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184615054 | 184615054 | A | G | 184615054 | - | | |
NM_021942.6(TRAPPC11):c.2387-11A>G | 60684 | TRAPPC11 | Likely benign | -1 | RCV002168217; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184615059 | 184615059 | A | G | 184615059 | - | | |
NM_021942.6(TRAPPC11):c.2387-8T>C | 60684 | TRAPPC11 | Likely benign | -1 | RCV001427764; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184615062 | 184615062 | T | C | 184615062 | - | | |
NM_021942.6(TRAPPC11):c.2387-6T>C | 60684 | TRAPPC11 | Likely benign | -1 | RCV002173943; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184615064 | 184615064 | T | C | 184615064 | - | | |
NM_021942.6(TRAPPC11):c.2388A>C (p.Gly796=) | 60684 | TRAPPC11 | Conflicting interpretations of pathogenicity | rs151021715 | RCV000252478|RCV000550686|RCV001083378; | N | MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184615071 | 184615071 | A | C | 4:g.184615071A>C | ClinGen:CA3152182 | C3809236 615356 Limb-girdle muscular dystrophy, type 2S; | |
NM_021942.6(TRAPPC11):c.2389C>T (p.Gln797Ter) | 60684 | TRAPPC11 | Pathogenic | -1 | RCV001956478; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184615072 | 184615072 | C | T | 184615072 | - | | |
NM_021942.6(TRAPPC11):c.2399A>G (p.Asn800Ser) | 60684 | TRAPPC11 | Uncertain significance | rs140915279 | RCV000701271; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184615082 | 184615082 | A | G | 4:g.184615082A>G | - | C3809236 615356 Limb-girdle muscular dystrophy, type 2S; | |
NM_021942.6(TRAPPC11):c.2418C>T (p.His806=) | 60684 | TRAPPC11 | Likely benign | rs146402163 | RCV000951806; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184615101 | 184615101 | C | T | 4:g.184615101C>T | - | | |
NM_021942.6(TRAPPC11):c.2419G>A (p.Val807Met) | 60684 | TRAPPC11 | Uncertain significance | rs139113789 | RCV000558392|RCV001591286; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840|MedGen:CN517202 | 4 | 184615102 | 184615102 | G | A | 4:g.184615102G>A | ClinGen:CA3152190 | C3809236 615356 Limb-girdle muscular dystrophy, type 2S; | |
NM_021942.6(TRAPPC11):c.2429A>G (p.His810Arg) | 60684 | TRAPPC11 | Uncertain significance | rs1561053683 | RCV001341722; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184615112 | 184615112 | A | G | 184615112 | - | | |
NM_021942.6(TRAPPC11):c.2436_2440del (p.Glu813fs) | 60684 | TRAPPC11 | Likely pathogenic | -1 | RCV001783903; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184615115 | 184615119 | GGAACA | G | 184615114 | - | | |
NM_021942.6(TRAPPC11):c.2434A>C (p.Thr812Pro) | 60684 | TRAPPC11 | Benign | rs62358032 | RCV000244013|RCV001514708|RCV001651245; | N | MedGen:CN169374|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840|MedGen:CN517202 | 4 | 184615117 | 184615117 | A | C | 4:g.184615117A>C | ClinGen:CA3152195 | CN169374 not specified; | |
NM_021942.6(TRAPPC11):c.2449G>A (p.Glu817Lys) | 60684 | TRAPPC11 | Uncertain significance | -1 | RCV001998996; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184615132 | 184615132 | G | A | 184615132 | - | | |
NM_021942.6(TRAPPC11):c.2458C>T (p.Pro820Ser) | 60684 | TRAPPC11 | Uncertain significance | rs767195120 | RCV001208861; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184615141 | 184615141 | C | T | 4:g.184615141C>T | - | | |
NM_021942.6(TRAPPC11):c.2459C>T (p.Pro820Leu) | 60684 | TRAPPC11 | Uncertain significance | rs752479011 | RCV001303313; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184615142 | 184615142 | C | T | 184615142 | - | | |
NM_021942.6(TRAPPC11):c.2460G>A (p.Pro820=) | 60684 | TRAPPC11 | Uncertain significance | -1 | RCV001945144; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184615143 | 184615143 | G | A | 184615143 | - | | |
NM_021942.6(TRAPPC11):c.2461G>A (p.Ala821Thr) | 60684 | TRAPPC11 | Benign/Likely benign | rs114471872 | RCV000247359|RCV000534582|RCV001668577; | N | MedGen:CN169374|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840|MedGen:CN517202 | 4 | 184615144 | 184615144 | G | A | NC_000004.11:g.184615144G>A | ClinGen:CA3152199 | C3809236 615356 Limb-girdle muscular dystrophy, type 2S; | |
NM_021942.6(TRAPPC11):c.2483T>C (p.Val828Ala) | 60684 | TRAPPC11 | Benign | rs75176151 | RCV000252716|RCV000551458|RCV001083928; | N | MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184615166 | 184615166 | T | C | 4:g.184615166T>C | ClinGen:CA3152203 | C3809236 615356 Limb-girdle muscular dystrophy, type 2S; | |
NM_021942.6(TRAPPC11):c.2489A>G (p.Asp830Gly) | 60684 | TRAPPC11 | Uncertain significance | rs200068440 | RCV001063790; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184615172 | 184615172 | A | G | 4:g.184615172A>G | - | | |
NM_021942.6(TRAPPC11):c.2490C>T (p.Asp830=) | 60684 | TRAPPC11 | Likely benign | rs1020680380 | RCV000904591|RCV001402823; | N | MedGen:CN517202|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184615173 | 184615173 | C | T | 4:g.184615173C>T | - | | |
NM_021942.6(TRAPPC11):c.2490C>G (p.Asp830Glu) | 60684 | TRAPPC11 | Uncertain significance | rs1020680380 | RCV001217157; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184615173 | 184615173 | C | G | 4:g.184615173C>G | - | | |
NM_021942.6(TRAPPC11):c.2508G>A (p.Gln836=) | 60684 | TRAPPC11 | Conflicting interpretations of pathogenicity | rs201868142 | RCV000887597|RCV001079068; | N | MedGen:CN517202|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184615191 | 184615191 | G | A | 4:g.184615191G>A | - | | |
NM_021942.6(TRAPPC11):c.2508+5A>G | 60684 | TRAPPC11 | Uncertain significance | rs1736402062 | RCV001057711; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184615196 | 184615196 | A | G | 4:g.184615196A>G | - | | |
NM_021942.6(TRAPPC11):c.2508+15C>T | 60684 | TRAPPC11 | Likely benign | -1 | RCV002110717; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184615206 | 184615206 | C | T | 184615206 | - | | |
NM_021942.6(TRAPPC11):c.2508+20A>T | 60684 | TRAPPC11 | Likely benign | -1 | RCV002194396; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184615211 | 184615211 | A | T | 184615211 | - | | |
NM_021942.6(TRAPPC11):c.2509-20C>T | 60684 | TRAPPC11 | Likely benign | -1 | RCV002138468; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184615737 | 184615737 | C | T | 184615737 | - | | |
NM_021942.6(TRAPPC11):c.2509-11T>C | 60684 | TRAPPC11 | Likely benign | -1 | RCV002100217; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184615746 | 184615746 | T | C | 184615746 | - | | |
NM_021942.6(TRAPPC11):c.2513A>G (p.Glu838Gly) | 60684 | TRAPPC11 | Uncertain significance | rs1554010221 | RCV000527588; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184615761 | 184615761 | A | G | NC_000004.11:g.184615761A>G | ClinGen:CA358872173 | C3809236 615356 Limb-girdle muscular dystrophy, type 2S; | |
NM_021942.6(TRAPPC11):c.2525A>G (p.Tyr842Cys) | 60684 | TRAPPC11 | Uncertain significance | -1 | RCV001978945; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184615773 | 184615773 | A | G | 184615773 | - | | |
NM_021942.6(TRAPPC11):c.2530C>T (p.Arg844Cys) | 60684 | TRAPPC11 | Uncertain significance | rs149626892 | RCV000500950|RCV001211088|RCV001805119; | N | MedGen:CN169374|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840|MedGen:CN517202 | 4 | 184615778 | 184615778 | C | T | 4:g.184615778C>T | ClinGen:CA3152224 | CN169374 not specified; | |
NM_021942.6(TRAPPC11):c.2530C>A (p.Arg844Ser) | 60684 | TRAPPC11 | Uncertain significance | rs149626892 | RCV000693950; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184615778 | 184615778 | C | A | NC_000004.11:g.184615778C>A | - | C3809236 615356 Limb-girdle muscular dystrophy, type 2S; | |
NM_021942.6(TRAPPC11):c.2531G>A (p.Arg844His) | 60684 | TRAPPC11 | Uncertain significance | rs781082721 | RCV000793837; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184615779 | 184615779 | G | A | 4:g.184615779G>A | - | | |
NM_021942.6(TRAPPC11):c.2531G>C (p.Arg844Pro) | 60684 | TRAPPC11 | Uncertain significance | -1 | RCV001996401; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184615779 | 184615779 | G | C | 184615779 | - | | |
NM_021942.6(TRAPPC11):c.2531G>T (p.Arg844Leu) | 60684 | TRAPPC11 | Uncertain significance | -1 | RCV001977746; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184615779 | 184615779 | G | T | 184615779 | - | | |
NM_021942.6(TRAPPC11):c.2540C>T (p.Thr847Ile) | 60684 | TRAPPC11 | Uncertain significance | rs578119880 | RCV000802251; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184615788 | 184615788 | C | T | 4:g.184615788C>T | - | | |
NM_021942.6(TRAPPC11):c.2560C>A (p.Leu854Ile) | 60684 | TRAPPC11 | Uncertain significance | rs771646323 | RCV000692890; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184615808 | 184615808 | C | A | NC_000004.11:g.184615808C>A | - | C3809236 615356 Limb-girdle muscular dystrophy, type 2S; | |
NM_021942.6(TRAPPC11):c.2573C>T (p.Ser858Phe) | 60684 | TRAPPC11 | Uncertain significance | -1 | RCV001897358; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184615821 | 184615821 | C | T | 184615821 | - | | |
NM_021942.6(TRAPPC11):c.2579del (p.Leu860fs) | 60684 | TRAPPC11 | Pathogenic | -1 | RCV001785081; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184615827 | 184615827 | CT | C | 184615826 | - | | |
NM_021942.6(TRAPPC11):c.2592C>T (p.Thr864=) | 60684 | TRAPPC11 | Likely benign | rs760413718 | RCV000651613; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184615840 | 184615840 | C | T | NC_000004.11:g.184615840C>T | ClinGen:CA3152235 | C3809236 615356 Limb-girdle muscular dystrophy, type 2S; | |
NM_021942.6(TRAPPC11):c.2615G>C (p.Cys872Ser) | 60684 | TRAPPC11 | Uncertain significance | -1 | RCV001368491; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184615863 | 184615863 | G | C | 184615863 | - | | |
NM_021942.6(TRAPPC11):c.2619G>T (p.Lys873Asn) | 60684 | TRAPPC11 | Uncertain significance | rs1260523372 | RCV001210097; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184615867 | 184615867 | G | T | 4:g.184615867G>T | - | | |
NM_021942.6(TRAPPC11):c.2625del (p.His875fs) | 60684 | TRAPPC11 | Pathogenic | rs1736442342 | RCV001336034; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184615873 | 184615873 | AC | A | 184615872 | - | | |
NM_021942.6(TRAPPC11):c.2628+10dup | 60684 | TRAPPC11 | Benign | rs150593522 | RCV000547956|RCV001288529; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840|MedGen:CN169374 | 4 | 184615879 | 184615880 | A | AT | NC_000004.11:g.184615886dup | ClinGen:CA3152244 | C3809236 615356 Limb-girdle muscular dystrophy, type 2S; | |
NM_021942.6(TRAPPC11):c.2628+10del | 60684 | TRAPPC11 | Conflicting interpretations of pathogenicity | rs150593522 | RCV000539882|RCV001080996|RCV001701081; | N | MedGen:CN517202|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840|MedGen:CN169374 | 4 | 184615880 | 184615880 | AT | A | 4:g.184615880_184615880del | ClinGen:CA3152243 | C3809236 615356 Limb-girdle muscular dystrophy, type 2S; | |
NM_021942.6(TRAPPC11):c.2629-20C>T | 60684 | TRAPPC11 | Likely benign | -1 | RCV002158303; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184618636 | 184618636 | C | T | 184618636 | - | | |
NM_021942.6(TRAPPC11):c.2629-8T>G | 60684 | TRAPPC11 | Likely benign | -1 | RCV001467954; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184618648 | 184618648 | T | G | 184618648 | - | | |
NM_021942.6(TRAPPC11):c.2637T>G (p.Thr879=) | 60684 | TRAPPC11 | Conflicting interpretations of pathogenicity | rs148799732 | RCV001222749|RCV001538497; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840|MedGen:CN517202 | 4 | 184618664 | 184618664 | T | G | 4:g.184618664T>G | - | | |
NM_021942.6(TRAPPC11):c.2638G>T (p.Val880Leu) | 60684 | TRAPPC11 | Uncertain significance | -1 | RCV001890496; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184618665 | 184618665 | G | T | 184618665 | - | | |
NM_021942.6(TRAPPC11):c.2641A>G (p.Thr881Ala) | 60684 | TRAPPC11 | Uncertain significance | rs772814181 | RCV000651603; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184618668 | 184618668 | A | G | NC_000004.11:g.184618668A>G | ClinGen:CA3152264 | C3809236 615356 Limb-girdle muscular dystrophy, type 2S; | |
NM_021942.6(TRAPPC11):c.2643A>C (p.Thr881=) | 60684 | TRAPPC11 | Likely benign | -1 | RCV002186257; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184618670 | 184618670 | A | C | 184618670 | - | | |
NM_021942.6(TRAPPC11):c.2645T>C (p.Ile882Thr) | 60684 | TRAPPC11 | Uncertain significance | rs763006851 | RCV001213491; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184618672 | 184618672 | T | C | 4:g.184618672T>C | - | | |
NM_021942.6(TRAPPC11):c.2651C>T (p.Thr884Ile) | 60684 | TRAPPC11 | Uncertain significance | rs373484248 | RCV001063981; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184618678 | 184618678 | C | T | 4:g.184618678C>T | - | | |
NM_021942.6(TRAPPC11):c.2656T>A (p.Phe886Ile) | 60684 | TRAPPC11 | Likely benign | rs376514277 | RCV000873151; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184618683 | 184618683 | T | A | 4:g.184618683T>A | - | | |
NM_021942.6(TRAPPC11):c.2661A>G (p.Pro887=) | 60684 | TRAPPC11 | Likely benign | -1 | RCV002190524; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184618688 | 184618688 | A | G | 184618688 | - | | |
NM_021942.6(TRAPPC11):c.2672C>T (p.Ala891Val) | 60684 | TRAPPC11 | Uncertain significance | -1 | RCV001365297; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184618699 | 184618699 | C | T | 184618699 | - | | |
NM_021942.6(TRAPPC11):c.2672C>G (p.Ala891Gly) | 60684 | TRAPPC11 | Uncertain significance | -1 | RCV002003534; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184618699 | 184618699 | C | G | 184618699 | - | | |
NM_021942.6(TRAPPC11):c.2673G>A (p.Ala891=) | 60684 | TRAPPC11 | Uncertain significance | rs531748969 | RCV000802637; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184618700 | 184618700 | G | A | 4:g.184618700G>A | - | | |
NM_021942.6(TRAPPC11):c.2678A>G (p.Lys893Arg) | 60684 | TRAPPC11 | Uncertain significance | rs759008736 | RCV000702624; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184618705 | 184618705 | A | G | NC_000004.11:g.184618705A>G | - | C3809236 615356 Limb-girdle muscular dystrophy, type 2S; | |
NM_021942.6(TRAPPC11):c.2684T>C (p.Val895Ala) | 60684 | TRAPPC11 | Uncertain significance | rs200931036 | RCV000527219; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184618711 | 184618711 | T | C | 4:g.184618711T>C | ClinGen:CA3152276 | C3809236 615356 Limb-girdle muscular dystrophy, type 2S; | |
NM_021942.6(TRAPPC11):c.2694+1G>T | 60684 | TRAPPC11 | Likely pathogenic | rs1186858080 | RCV000539818; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184618722 | 184618722 | G | T | NC_000004.11:g.184618722G>T | ClinGen:CA358872791 | C3809236 615356 Limb-girdle muscular dystrophy, type 2S; | |
NM_021942.6(TRAPPC11):c.2694+14A>G | 60684 | TRAPPC11 | Likely benign | -1 | RCV002093457; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184618735 | 184618735 | A | G | 184618735 | - | | |
NM_021942.6(TRAPPC11):c.2695-7G>T | 60684 | TRAPPC11 | Likely benign | rs371163271 | RCV000873336|RCV001559528; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840|MedGen:CN517202 | 4 | 184618825 | 184618825 | G | T | 4:g.184618825G>T | - | | |
NM_021942.6(TRAPPC11):c.2696T>C (p.Phe899Ser) | 60684 | TRAPPC11 | Uncertain significance | rs777270916 | RCV000532867; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184618833 | 184618833 | T | C | NC_000004.11:g.184618833T>C | ClinGen:CA3152299 | C3809236 615356 Limb-girdle muscular dystrophy, type 2S; | |
NM_021942.6(TRAPPC11):c.2704C>T (p.Leu902=) | 60684 | TRAPPC11 | Likely benign | -1 | RCV001425015; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184618841 | 184618841 | C | T | 184618841 | - | | |
NM_021942.6(TRAPPC11):c.2708A>G (p.Glu903Gly) | 60684 | TRAPPC11 | Uncertain significance | rs1398795151 | RCV000694435; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184618845 | 184618845 | A | G | 4:g.184618845A>G | - | C3809236 615356 Limb-girdle muscular dystrophy, type 2S; | |
NM_021942.6(TRAPPC11):c.2710A>G (p.Arg904Gly) | 60684 | TRAPPC11 | Uncertain significance | rs770747782 | RCV001232962; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184618847 | 184618847 | A | G | 4:g.184618847A>G | - | | |
NM_021942.6(TRAPPC11):c.2712G>A (p.Arg904=) | 60684 | TRAPPC11 | Likely benign | -1 | RCV001479892; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184618849 | 184618849 | G | A | 184618849 | - | | |
NM_021942.6(TRAPPC11):c.2744C>G (p.Thr915Arg) | 60684 | TRAPPC11 | Uncertain significance | rs200936990 | RCV000553276; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184618881 | 184618881 | C | G | 4:g.184618881C>G | ClinGen:CA358873114 | C3809236 615356 Limb-girdle muscular dystrophy, type 2S; | |
NM_021942.6(TRAPPC11):c.2749C>T (p.Leu917Phe) | 60684 | TRAPPC11 | Uncertain significance | -1 | RCV001947908; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184618886 | 184618886 | C | T | 184618886 | - | | |
NM_021942.6(TRAPPC11):c.2756G>A (p.Ser919Asn) | 60684 | TRAPPC11 | Uncertain significance | rs753388968 | RCV001211925; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184618893 | 184618893 | G | A | 4:g.184618893G>A | - | | |
NM_021942.6(TRAPPC11):c.2761T>G (p.Ser921Ala) | 60684 | TRAPPC11 | Uncertain significance | -1 | RCV001891553; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184618898 | 184618898 | T | G | 184618898 | - | | |
NM_021942.6(TRAPPC11):c.2768G>C (p.Trp923Ser) | 60684 | TRAPPC11 | Uncertain significance | rs1579213399 | RCV000794615; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184618905 | 184618905 | G | C | 4:g.184618905G>C | - | | |
NM_021942.6(TRAPPC11):c.2773C>T (p.Leu925Phe) | 60684 | TRAPPC11 | Uncertain significance | -1 | RCV001370456; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184618910 | 184618910 | C | T | 184618910 | - | | |
NM_021942.6(TRAPPC11):c.2776A>G (p.Thr926Ala) | 60684 | TRAPPC11 | Uncertain significance | rs1219763538 | RCV000651605; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184618913 | 184618913 | A | G | 4:g.184618913A>G | ClinGen:CA358873256 | C3809236 615356 Limb-girdle muscular dystrophy, type 2S; | |
NM_021942.6(TRAPPC11):c.2778T>A (p.Thr926=) | 60684 | TRAPPC11 | Likely benign | -1 | RCV002169612; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184618915 | 184618915 | T | A | 184618915 | - | | |
NM_021942.6(TRAPPC11):c.2782_2784del (p.Val928del) | 60684 | TRAPPC11 | Uncertain significance | -1 | RCV001370420; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184618917 | 184618919 | ATTG | A | 184618916 | - | | |
NM_021942.6(TRAPPC11):c.2786C>G (p.Ser929Cys) | 60684 | TRAPPC11 | Uncertain significance | rs1275717721 | RCV001320457; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184618923 | 184618923 | C | G | 184618923 | - | | |
NM_021942.6(TRAPPC11):c.2788A>G (p.Ser930Gly) | 60684 | TRAPPC11 | Uncertain significance | rs1399140645 | RCV001350095; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184618925 | 184618925 | A | G | 184618925 | - | | |
NM_021942.6(TRAPPC11):c.2799G>C (p.Gln933His) | 60684 | TRAPPC11 | Benign | rs62617790 | RCV000244729|RCV001513869|RCV001722340; | N | MedGen:CN169374|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840|MedGen:CN517202 | 4 | 184618936 | 184618936 | G | C | 4:g.184618936G>C | ClinGen:CA3152315 | CN169374 not specified; | |
NM_021942.6(TRAPPC11):c.2817C>T (p.Thr939=) | 60684 | TRAPPC11 | Conflicting interpretations of pathogenicity | rs778742385 | RCV000912765|RCV001415746; | N | MedGen:CN517202|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184618954 | 184618954 | C | T | 4:g.184618954C>T | - | | |
NM_021942.6(TRAPPC11):c.2823G>A (p.Val941=) | 60684 | TRAPPC11 | Likely benign | -1 | RCV001484723; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184618960 | 184618960 | G | A | 184618960 | - | | |
NM_021942.6(TRAPPC11):c.2829G>A (p.Gln943=) | 60684 | TRAPPC11 | Likely benign | -1 | RCV002144892; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184618966 | 184618966 | G | A | 184618966 | - | | |
NM_021942.6(TRAPPC11):c.2843T>G (p.Val948Gly) | 60684 | TRAPPC11 | Uncertain significance | rs1736618609 | RCV001299315; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184618980 | 184618980 | T | G | 184618980 | - | | |
NM_021942.6(TRAPPC11):c.2844G>A (p.Val948=) | 60684 | TRAPPC11 | Likely benign | rs151179289 | RCV000900518; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184618981 | 184618981 | G | A | 4:g.184618981G>A | - | | |
NM_021942.6(TRAPPC11):c.2849A>G (p.Asn950Ser) | 60684 | TRAPPC11 | Uncertain significance | rs202170132 | RCV001305005; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184618986 | 184618986 | A | G | 184618986 | - | | |
NM_021942.6(TRAPPC11):c.2850T>C (p.Asn950=) | 60684 | TRAPPC11 | Uncertain significance | rs376728526 | RCV001068490; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184618987 | 184618987 | T | C | 4:g.184618987T>C | - | | |
NM_021942.6(TRAPPC11):c.2851+5G>A | 60684 | TRAPPC11 | Uncertain significance | rs373713956 | RCV000546293|RCV001799686; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840|MedGen:CN517202 | 4 | 184618993 | 184618993 | G | A | NC_000004.11:g.184618993G>A | ClinGen:CA3152332 | C3809236 615356 Limb-girdle muscular dystrophy, type 2S; | |
NM_021942.6(TRAPPC11):c.2851+7C>T | 60684 | TRAPPC11 | Likely benign | -1 | RCV002185308; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184618995 | 184618995 | C | T | 184618995 | - | | |
NM_021942.6(TRAPPC11):c.2851+29C>G | 60684 | TRAPPC11 | Benign | -1 | RCV001656071|RCV001838727; | N | MedGen:CN517202|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184619017 | 184619017 | C | G | 184619017 | - | | |
NM_021942.6(TRAPPC11):c.2851+42GC[2] | 60684 | TRAPPC11 | Benign | -1 | RCV001690181|RCV001838789; | N | MedGen:CN517202|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184619030 | 184619031 | TGC | T | 184619029 | - | | |
NM_021942.6(TRAPPC11):c.2851+46G>A | 60684 | TRAPPC11 | Benign | -1 | RCV001668024|RCV001838759; | N | MedGen:CN517202|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184619034 | 184619034 | G | A | 184619034 | - | | |
NC_000004.11:g.(?_184622830)_(184633797_?)del | 60684 | TRAPPC11 | Pathogenic | -1 | RCV001972464; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184622830 | 184633797 | na | na | -1 | - | | |
NM_021942.6(TRAPPC11):c.2862G>A (p.Gln954=) | 60684 | TRAPPC11 | Likely benign | -1 | RCV002181945; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184622860 | 184622860 | G | A | 184622860 | - | | |
NM_021942.6(TRAPPC11):c.2869G>A (p.Glu957Lys) | 60684 | TRAPPC11 | Uncertain significance | rs1736807463 | RCV001063751; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184622867 | 184622867 | G | A | 4:g.184622867G>A | - | | |
NM_021942.6(TRAPPC11):c.2871G>A (p.Glu957=) | 60684 | TRAPPC11 | Likely benign | -1 | RCV001411754; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184622869 | 184622869 | G | A | 184622869 | - | | |
NM_021942.6(TRAPPC11):c.2874T>C (p.Ser958=) | 60684 | TRAPPC11 | Likely benign | -1 | RCV002135992; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184622872 | 184622872 | T | C | 184622872 | - | | |
NM_021942.6(TRAPPC11):c.2895T>G (p.Leu965=) | 60684 | TRAPPC11 | Likely benign | -1 | RCV001482889; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184622893 | 184622893 | T | G | 184622893 | - | | |
NM_021942.6(TRAPPC11):c.2916T>C (p.Asn972=) | 60684 | TRAPPC11 | Likely benign | -1 | RCV001464854; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184622914 | 184622914 | T | C | 184622914 | - | | |
NM_021942.6(TRAPPC11):c.2925T>G (p.Gly975=) | 60684 | TRAPPC11 | Likely benign | -1 | RCV001442579; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184622923 | 184622923 | T | G | 184622923 | - | | |
NM_021942.6(TRAPPC11):c.2926G>A (p.Gly976Arg) | 60684 | TRAPPC11 | Uncertain significance | -1 | RCV001918519; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184622924 | 184622924 | G | A | 184622924 | - | | |
NM_021942.6(TRAPPC11):c.2937C>T (p.Thr979=) | 60684 | TRAPPC11 | Likely benign | rs200546920 | RCV000946182; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184622935 | 184622935 | C | T | 4:g.184622935C>T | - | | |
NM_021942.6(TRAPPC11):c.2938G>A (p.Gly980Arg) | 60684 | TRAPPC11 | Pathogenic | rs397509417 | RCV000054408; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184622936 | 184622936 | G | A | 4:g.184622936G>A | ClinGen:CA144539,UniProtKB:Q7Z392#VAR_070158,OMIM:614138.0001 | C3809236 615356 Limb-girdle muscular dystrophy, type 2S; | |
NM_021942.6(TRAPPC11):c.2941C>A (p.His981Asn) | 60684 | TRAPPC11 | Uncertain significance | -1 | RCV001918892; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184622939 | 184622939 | C | A | 184622939 | - | | |
NM_021942.6(TRAPPC11):c.2942A>G (p.His981Arg) | 60684 | TRAPPC11 | Uncertain significance | rs1554011266 | RCV000559696; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184622940 | 184622940 | A | G | NC_000004.11:g.184622940A>G | ClinGen:CA358873925 | C3809236 615356 Limb-girdle muscular dystrophy, type 2S; | |
NM_021942.6(TRAPPC11):c.2951T>C (p.Ile984Thr) | 60684 | TRAPPC11 | Uncertain significance | rs756061183 | RCV001225049; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184622949 | 184622949 | T | C | 4:g.184622949T>C | - | | |
NM_021942.6(TRAPPC11):c.2962A>G (p.Arg988Gly) | 60684 | TRAPPC11 | Uncertain significance | rs1199947558 | RCV001224490; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184622960 | 184622960 | A | G | 4:g.184622960A>G | - | | |
NM_021942.6(TRAPPC11):c.2963+10A>T | 60684 | TRAPPC11 | Likely benign | -1 | RCV002122091; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184622971 | 184622971 | A | T | 184622971 | - | | |
NM_021942.6(TRAPPC11):c.2963+13T>G | 60684 | TRAPPC11 | Likely benign | -1 | RCV002204800; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184622974 | 184622974 | T | G | 184622974 | - | | |
NM_021942.6(TRAPPC11):c.2963+14C>G | 60684 | TRAPPC11 | Likely benign | -1 | RCV002172142; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184622975 | 184622975 | C | G | 184622975 | - | | |
NM_021942.6(TRAPPC11):c.2964-19A>G | 60684 | TRAPPC11 | Uncertain significance | -1 | RCV001926633; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184626113 | 184626113 | A | G | 184626113 | - | | |
NM_021942.6(TRAPPC11):c.2964-14C>G | 60684 | TRAPPC11 | Likely benign | -1 | RCV002138440; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184626118 | 184626118 | C | G | 184626118 | - | | |
NM_021942.6(TRAPPC11):c.2964G>T (p.Arg988Ser) | 60684 | TRAPPC11 | Uncertain significance | rs1736982388 | RCV001327543; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184626132 | 184626132 | G | T | 184626132 | - | | |
NM_021942.6(TRAPPC11):c.2967C>G (p.Thr989=) | 60684 | TRAPPC11 | Uncertain significance | rs1736982669 | RCV001247698; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184626135 | 184626135 | C | G | 4:g.184626135C>G | - | | |
NM_021942.6(TRAPPC11):c.2995A>C (p.Thr999Pro) | 60684 | TRAPPC11 | Uncertain significance | rs1453357796 | RCV001212168; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184626163 | 184626163 | A | C | 4:g.184626163A>C | - | | |
NM_021942.6(TRAPPC11):c.3001G>A (p.Val1001Ile) | 60684 | TRAPPC11 | Uncertain significance | -1 | RCV001870629; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184626169 | 184626169 | G | A | 184626169 | - | | |
NM_021942.6(TRAPPC11):c.3002T>A (p.Val1001Asp) | 60684 | TRAPPC11 | Uncertain significance | rs200989029 | RCV000651609; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184626170 | 184626170 | T | A | NC_000004.11:g.184626170T>A | ClinGen:CA3152408 | C3809236 615356 Limb-girdle muscular dystrophy, type 2S; | |
NM_021942.6(TRAPPC11):c.3003C>T (p.Val1001=) | 60684 | TRAPPC11 | Likely benign | -1 | RCV002174349; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184626171 | 184626171 | C | T | 184626171 | - | | |
NM_021942.6(TRAPPC11):c.3003C>A (p.Val1001=) | 60684 | TRAPPC11 | Likely benign | -1 | RCV002123518; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184626171 | 184626171 | C | A | 184626171 | - | | |
NM_021942.6(TRAPPC11):c.3014C>T (p.Pro1005Leu) | 60684 | TRAPPC11 | Uncertain significance | rs764158202 | RCV001336035; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184626182 | 184626182 | C | T | 184626182 | - | | |
NM_021942.6(TRAPPC11):c.3015G>T (p.Pro1005=) | 60684 | TRAPPC11 | Likely benign | rs532244366 | RCV000651619; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184626183 | 184626183 | G | T | NC_000004.11:g.184626183G>T | ClinGen:CA3152412 | C3809236 615356 Limb-girdle muscular dystrophy, type 2S; | |
NM_021942.6(TRAPPC11):c.3015G>A (p.Pro1005=) | 60684 | TRAPPC11 | Likely benign | -1 | RCV001435851; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184626183 | 184626183 | G | A | 184626183 | - | | |
NM_021942.6(TRAPPC11):c.3018C>T (p.His1006=) | 60684 | TRAPPC11 | Likely benign | rs149934183 | RCV000874907|RCV001488833; | N | MedGen:CN517202|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184626186 | 184626186 | C | T | 4:g.184626186C>T | - | | |
NM_021942.6(TRAPPC11):c.3019G>A (p.Val1007Met) | 60684 | TRAPPC11 | Benign/Likely benign | rs79804817 | RCV000254252|RCV000531323|RCV001668578; | N | MedGen:CN169374|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840|MedGen:CN517202 | 4 | 184626187 | 184626187 | G | A | 4:g.184626187G>A | ClinGen:CA3152416 | C3809236 615356 Limb-girdle muscular dystrophy, type 2S; | |
NM_021942.6(TRAPPC11):c.3029A>T (p.Glu1010Val) | 60684 | TRAPPC11 | Uncertain significance | rs773678506 | RCV000543658; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184626197 | 184626197 | A | T | NC_000004.11:g.184626197A>T | ClinGen:CA3152417 | C3809236 615356 Limb-girdle muscular dystrophy, type 2S; | |
NM_021942.6(TRAPPC11):c.3040C>T (p.Leu1014Phe) | 60684 | TRAPPC11 | Uncertain significance | rs79057512 | RCV001053318; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184626208 | 184626208 | C | T | 4:g.184626208C>T | - | | |
NM_021942.6(TRAPPC11):c.3055+5C>T | 60684 | TRAPPC11 | Uncertain significance | rs763743260 | RCV000560736; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184626228 | 184626228 | C | T | 4:g.184626228C>T | ClinGen:CA3152422 | C3809236 615356 Limb-girdle muscular dystrophy, type 2S; | |
NM_021942.6(TRAPPC11):c.3055+6G>A | 60684 | TRAPPC11 | Uncertain significance | rs373854277 | RCV001071704; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184626229 | 184626229 | G | A | 4:g.184626229G>A | - | | |
NM_021942.6(TRAPPC11):c.3055+20A>C | 60684 | TRAPPC11 | Likely benign | -1 | RCV002159834; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184626243 | 184626243 | A | C | 184626243 | - | | |
NM_021942.6(TRAPPC11):c.3058C>G (p.Leu1020Val) | 60684 | TRAPPC11 | Uncertain significance | rs1737096044 | RCV001350897; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184627962 | 184627962 | C | G | 184627962 | - | | |
NM_021942.6(TRAPPC11):c.3062C>T (p.Pro1021Leu) | 60684 | TRAPPC11 | Uncertain significance | rs371103166 | RCV000427782|RCV001240807; | N | MedGen:CN517202|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184627966 | 184627966 | C | T | 4:g.184627966C>T | ClinGen:CA3152431 | CN169374 not specified; | |
NM_021942.6(TRAPPC11):c.3063G>A (p.Pro1021=) | 60684 | TRAPPC11 | Likely benign | -1 | RCV002126763; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184627967 | 184627967 | G | A | 184627967 | - | | |
NM_021942.6(TRAPPC11):c.3067T>C (p.Phe1023Leu) | 60684 | TRAPPC11 | Uncertain significance | -1 | RCV001919270; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184627971 | 184627971 | T | C | 184627971 | - | | |
NM_021942.6(TRAPPC11):c.3074G>T (p.Arg1025Leu) | 60684 | TRAPPC11 | Uncertain significance | rs374203755 | RCV001232205; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184627978 | 184627978 | G | T | 4:g.184627978G>T | - | | |
NM_021942.6(TRAPPC11):c.3074G>A (p.Arg1025His) | 60684 | TRAPPC11 | Uncertain significance | -1 | RCV001763322|RCV001868413; | N | MedGen:CN517202|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184627978 | 184627978 | G | A | 184627978 | - | | |
NM_021942.6(TRAPPC11):c.3086C>T (p.Ser1029Leu) | 60684 | TRAPPC11 | Uncertain significance | rs201494083 | RCV000820066; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184627990 | 184627990 | C | T | 4:g.184627990C>T | - | | |
NM_021942.6(TRAPPC11):c.3087G>A (p.Ser1029=) | 60684 | TRAPPC11 | Likely benign | rs1454005639 | RCV000930804; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184627991 | 184627991 | G | A | 4:g.184627991G>A | - | | |
NM_021942.6(TRAPPC11):c.3092C>G (p.Pro1031Arg) | 60684 | TRAPPC11 | Benign/Likely benign | rs200466260 | RCV000517406|RCV001085538|RCV001644619; | N | MedGen:CN517202|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840|MedGen:CN169374 | 4 | 184627996 | 184627996 | C | G | NC_000004.11:g.184627996C>G | ClinGen:CA3152438 | C3809236 615356 Limb-girdle muscular dystrophy, type 2S; | |
NM_021942.6(TRAPPC11):c.3104A>G (p.His1035Arg) | 60684 | TRAPPC11 | Uncertain significance | rs762555782 | RCV001049676; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184628008 | 184628008 | A | G | 4:g.184628008A>G | - | | |
NM_021942.6(TRAPPC11):c.3104A>T (p.His1035Leu) | 60684 | TRAPPC11 | Uncertain significance | -1 | RCV001864580; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184628008 | 184628008 | A | T | 184628008 | - | | |
NM_021942.6(TRAPPC11):c.3105C>T (p.His1035=) | 60684 | TRAPPC11 | Likely benign | -1 | RCV002094510; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184628009 | 184628009 | C | T | 184628009 | - | | |
NM_021942.6(TRAPPC11):c.3106C>T (p.Leu1036=) | 60684 | TRAPPC11 | Likely benign | -1 | RCV002147969; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184628010 | 184628010 | C | T | 184628010 | - | | |
NM_021942.6(TRAPPC11):c.3121G>A (p.Asp1041Asn) | 60684 | TRAPPC11 | Uncertain significance | rs1353717821 | RCV001243807; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184628025 | 184628025 | G | A | 4:g.184628025G>A | - | | |
NM_021942.6(TRAPPC11):c.3137T>C (p.Val1046Ala) | 60684 | TRAPPC11 | Uncertain significance | -1 | RCV002006686; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184628041 | 184628041 | T | C | 184628041 | - | | |
NM_021942.6(TRAPPC11):c.3151G>A (p.Glu1051Lys) | 60684 | TRAPPC11 | Uncertain significance | -1 | RCV001968271; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184628055 | 184628055 | G | A | 184628055 | - | | |
NM_021942.6(TRAPPC11):c.3173_3180del (p.Phe1058fs) | 60684 | TRAPPC11 | Pathogenic | -1 | RCV001972821; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184628075 | 184628082 | TGTTCTCAG | T | 184628074 | - | | |
NM_021942.6(TRAPPC11):c.3185A>G (p.Lys1062Arg) | 60684 | TRAPPC11 | Uncertain significance | rs551167738 | RCV001239140; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184628089 | 184628089 | A | G | 4:g.184628089A>G | - | | |
NM_021942.6(TRAPPC11):c.3189+1G>A | 60684 | TRAPPC11 | Likely pathogenic | -1 | RCV002034247; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184628094 | 184628094 | G | A | 184628094 | - | | |
NM_021942.6(TRAPPC11):c.3189+4C>T | 60684 | TRAPPC11 | Uncertain significance | rs964098072 | RCV001349378; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184628097 | 184628097 | C | T | 184628097 | - | | |
NM_021942.6(TRAPPC11):c.3190-16del | 60684 | TRAPPC11 | Likely benign | -1 | RCV002146069; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184629544 | 184629544 | GA | G | 184629543 | - | | |
NM_021942.6(TRAPPC11):c.3190-14T>C | 60684 | TRAPPC11 | Likely benign | -1 | RCV002112389; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184629546 | 184629546 | T | C | 184629546 | - | | |
NM_021942.6(TRAPPC11):c.3190-7G>C | 60684 | TRAPPC11 | Likely benign | -1 | RCV001463667; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184629553 | 184629553 | G | C | 184629553 | - | | |
NM_021942.6(TRAPPC11):c.3194G>A (p.Arg1065Gln) | 60684 | TRAPPC11 | Uncertain significance | rs567387885 | RCV000518307|RCV000704222|RCV001823145; | N | MedGen:CN169374|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840|MedGen:CN517202 | 4 | 184629564 | 184629564 | G | A | 4:g.184629564G>A | ClinGen:CA3152472 | C3809236 615356 Limb-girdle muscular dystrophy, type 2S; | |
NM_021942.6(TRAPPC11):c.3199C>T (p.Arg1067Cys) | 60684 | TRAPPC11 | Uncertain significance | rs374734783 | RCV001307251; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184629569 | 184629569 | C | T | 184629569 | - | | |
NM_021942.6(TRAPPC11):c.3207C>A (p.Leu1069=) | 60684 | TRAPPC11 | Likely benign | -1 | RCV002090432; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184629577 | 184629577 | C | A | 184629577 | - | | |
NM_021942.6(TRAPPC11):c.3211G>A (p.Gly1071Ser) | 60684 | TRAPPC11 | Uncertain significance | rs141588557 | RCV000549318|RCV001764612; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840|MedGen:CN517202 | 4 | 184629581 | 184629581 | G | A | NC_000004.11:g.184629581G>A | ClinGen:CA3152479 | C3809236 615356 Limb-girdle muscular dystrophy, type 2S; | |
NM_021942.6(TRAPPC11):c.3215C>T (p.Thr1072Met) | 60684 | TRAPPC11 | Uncertain significance | rs147061560 | RCV000557028|RCV001770473; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840|MedGen:CN517202 | 4 | 184629585 | 184629585 | C | T | NC_000004.11:g.184629585C>T | ClinGen:CA3152480 | C3809236 615356 Limb-girdle muscular dystrophy, type 2S; | |
NM_021942.6(TRAPPC11):c.3215C>A (p.Thr1072Lys) | 60684 | TRAPPC11 | Uncertain significance | -1 | RCV001911430; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184629585 | 184629585 | C | A | 184629585 | - | | |
NM_021942.6(TRAPPC11):c.3216G>A (p.Thr1072=) | 60684 | TRAPPC11 | Uncertain significance | -1 | RCV001940633; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184629586 | 184629586 | G | A | 184629586 | - | | |
NM_021942.6(TRAPPC11):c.3221A>C (p.Gln1074Pro) | 60684 | TRAPPC11 | Uncertain significance | rs368699954 | RCV001059470; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184629591 | 184629591 | A | C | 4:g.184629591A>C | - | | |
NM_021942.6(TRAPPC11):c.3228G>C (p.Met1076Ile) | 60684 | TRAPPC11 | Uncertain significance | -1 | RCV001978244; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184629598 | 184629598 | G | C | 184629598 | - | | |
NM_021942.6(TRAPPC11):c.3231A>G (p.Leu1077=) | 60684 | TRAPPC11 | Likely benign | -1 | RCV002025625; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184629601 | 184629601 | A | G | 184629601 | - | | |
NM_021942.6(TRAPPC11):c.3236A>G (p.Asn1079Ser) | 60684 | TRAPPC11 | Uncertain significance | rs898762603 | RCV000651607; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184629606 | 184629606 | A | G | NC_000004.11:g.184629606A>G | ClinGen:CA111870625 | C3809236 615356 Limb-girdle muscular dystrophy, type 2S; | |
NM_021942.6(TRAPPC11):c.3253G>T (p.Ala1085Ser) | 60684 | TRAPPC11 | Uncertain significance | -1 | RCV001987468; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184629623 | 184629623 | G | T | 184629623 | - | | |
NM_021942.6(TRAPPC11):c.3270G>C (p.Leu1090=) | 60684 | TRAPPC11 | Likely benign | -1 | RCV002151585; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184629640 | 184629640 | G | C | 184629640 | - | | |
NM_021942.6(TRAPPC11):c.3270G>A (p.Leu1090=) | 60684 | TRAPPC11 | Likely benign | -1 | RCV002096125; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184629640 | 184629640 | G | A | 184629640 | - | | |
NM_021942.6(TRAPPC11):c.3273A>G (p.Pro1091=) | 60684 | TRAPPC11 | Benign/Likely benign | rs113269326 | RCV000516567|RCV001082034; | N | MedGen:CN517202|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184629643 | 184629643 | A | G | 4:g.184629643A>G | ClinGen:CA3152490 | C3809236 615356 Limb-girdle muscular dystrophy, type 2S; | |
NM_021942.6(TRAPPC11):c.3276T>C (p.Ser1092=) | 60684 | TRAPPC11 | Likely benign | rs1579231542 | RCV000918035; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184629646 | 184629646 | T | C | 4:g.184629646T>C | - | | |
NM_021942.6(TRAPPC11):c.3310A>G (p.Thr1104Ala) | 60684 | TRAPPC11 | Benign | rs78663235 | RCV000552157|RCV001084522; | N | MedGen:CN517202|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184629680 | 184629680 | A | G | NC_000004.11:g.184629680A>G | ClinGen:CA3152497 | C3809236 615356 Limb-girdle muscular dystrophy, type 2S; | |
NM_021942.6(TRAPPC11):c.3313A>G (p.Asn1105Asp) | 60684 | TRAPPC11 | Uncertain significance | rs770901450 | RCV001042131; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184629683 | 184629683 | A | G | 4:g.184629683A>G | - | | |
NM_021942.6(TRAPPC11):c.3325A>G (p.Arg1109Gly) | 60684 | TRAPPC11 | Uncertain significance | rs1278065030 | RCV000686442; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184629695 | 184629695 | A | G | 4:g.184629695A>G | - | C3809236 615356 Limb-girdle muscular dystrophy, type 2S; | |
NM_021942.6(TRAPPC11):c.3329G>A (p.Arg1110His) | 60684 | TRAPPC11 | Benign/Likely benign | rs369105119 | RCV000548942|RCV001566548; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840|MedGen:CN517202 | 4 | 184629699 | 184629699 | G | A | NC_000004.11:g.184629699G>A | ClinGen:CA3152502 | C3809236 615356 Limb-girdle muscular dystrophy, type 2S; | |
NM_021942.6(TRAPPC11):c.3340A>G (p.Thr1114Ala) | 60684 | TRAPPC11 | Uncertain significance | rs866236252 | RCV000814251; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184629710 | 184629710 | A | G | 4:g.184629710A>G | - | | |
NM_021942.6(TRAPPC11):c.3342C>G (p.Thr1114=) | 60684 | TRAPPC11 | Likely benign | rs368766677 | RCV000882118|RCV001402806; | N | MedGen:CN517202|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184629712 | 184629712 | C | G | 4:g.184629712C>G | - | | |
NM_021942.6(TRAPPC11):c.3357+13A>G | 60684 | TRAPPC11 | Likely benign | -1 | RCV002149124; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184629740 | 184629740 | A | G | 184629740 | - | | |
NM_021942.6(TRAPPC11):c.3358-9A>G | 60684 | TRAPPC11 | Likely benign | -1 | RCV001492740; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184633744 | 184633744 | A | G | 184633744 | - | | |
NM_021942.6(TRAPPC11):c.3374T>C (p.Met1125Thr) | 60684 | TRAPPC11 | Uncertain significance | -1 | RCV001917728; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184633769 | 184633769 | T | C | 184633769 | - | | |
NM_021942.6(TRAPPC11):c.3377A>T (p.Asp1126Val) | 60684 | TRAPPC11 | Uncertain significance | -1 | RCV002005429; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184633772 | 184633772 | A | T | 184633772 | - | | |
NM_021942.6(TRAPPC11):c.3393T>C (p.Ala1131=) | 60684 | TRAPPC11 | Likely benign | rs770191637 | RCV000944921|RCV001468073; | N | MedGen:CN517202|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840 | 4 | 184633788 | 184633788 | T | C | 4:g.184633788T>C | - | | |
NM_021942.6(TRAPPC11):c.3400T>C (p.Ter1134Arg) | 60684 | TRAPPC11 | Uncertain significance | rs142222368 | RCV000699661|RCV000993347; | N | MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840|MedGen:CN517202 | 4 | 184633795 | 184633795 | T | C | 4:g.184633795T>C | - | C3809236 615356 Limb-girdle muscular dystrophy, type 2S; | |