| NM_003680.4(YARS1):c.1291A>T (p.Met431Leu) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV001079016]|Inborn genetic diseases [RCV002461300]|YARS1-related disorder [RCV003915550]|not provided [RCV000597583] |
Chr1:32780128 [GRCh38]
Chr1:33245729 [GRCh37]
Chr1:1p35.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003680.4(YARS1):c.458_469del (p.Val153_Val156del) |
deletion |
Charcot-Marie-Tooth disease dominant intermediate C [RCV000006567] |
Chr1:32806523..32806534 [GRCh38]
Chr1:33272124..33272135 [GRCh37]
Chr1:1p35.1 |
pathogenic |
| NM_003680.4(YARS1):c.41T>C (p.Ile14Thr) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV000640568] |
Chr1:32817204 [GRCh38]
Chr1:33282805 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.1549A>G (p.Ile517Val) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV000640572] |
Chr1:32776019 [GRCh38]
Chr1:33241620 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.1476+2T>C |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV000640576] |
Chr1:32779380 [GRCh38]
Chr1:33244981 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.260G>A (p.Trp87Ter) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV001242803]|not provided [RCV000520767] |
Chr1:32810711 [GRCh38]
Chr1:33276312 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.746T>G (p.Phe249Cys) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV000543963] |
Chr1:32787014 [GRCh38]
Chr1:33252615 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.1487A>G (p.Lys496Arg) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV000526485] |
Chr1:32776081 [GRCh38]
Chr1:33241682 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.638C>T (p.Pro213Leu) |
single nucleotide variant |
Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2 [RCV000515957] |
Chr1:32791208 [GRCh38]
Chr1:33256809 [GRCh37]
Chr1:1p35.1 |
pathogenic|uncertain significance |
| NM_003680.4(YARS1):c.1138A>C (p.Lys380Gln) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV000549593] |
Chr1:32781050 [GRCh38]
Chr1:33246651 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.430G>A (p.Asp144Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002461272]|not specified [RCV000518832] |
Chr1:32806562 [GRCh38]
Chr1:33272163 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.121G>A (p.Gly41Arg) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789620]|Charcot-Marie-Tooth disease dominant intermediate C [RCV000006565] |
Chr1:32810994 [GRCh38]
Chr1:33276595 [GRCh37]
Chr1:1p35.1 |
pathogenic|uncertain significance |
| NM_003680.4(YARS1):c.586G>A (p.Glu196Lys) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789621]|Charcot-Marie-Tooth disease dominant intermediate C [RCV000006566]|Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2 [RCV003328123] |
Chr1:32797768 [GRCh38]
Chr1:33263369 [GRCh37]
Chr1:1p35.1 |
pathogenic|uncertain significance |
| NM_003680.4(YARS1):c.322A>G (p.Ile108Val) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV001211958]|Charcot-Marie-Tooth disease dominant intermediate C [RCV002484156] |
Chr1:32810649 [GRCh38]
Chr1:33276250 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| GRCh38/hg38 1p35.2-35.1(chr1:30766758-33359428)x1 |
copy number loss |
See cases [RCV000053802] |
Chr1:30766758..33359428 [GRCh38]
Chr1:31239605..33825029 [GRCh37]
Chr1:31012192..33597616 [NCBI36]
Chr1:1p35.2-35.1 |
pathogenic |
| NM_003680.4(YARS1):c.1471T>C (p.Leu491=) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002586394] |
Chr1:32779387 [GRCh38]
Chr1:33244988 [GRCh37]
Chr1:33017575 [NCBI36]
Chr1:1p35.1 |
likely benign|not provided |
| NM_003680.3(YARS):c.755C>T (p.Pro252Leu) |
single nucleotide variant |
Malignant melanoma [RCV000060176] |
Chr1:32787005 [GRCh38]
Chr1:33252606 [GRCh37]
Chr1:33025193 [NCBI36]
Chr1:1p35.1 |
not provided |
| NM_003680.4(YARS1):c.789C>A (p.Phe263Leu) |
single nucleotide variant |
not provided [RCV000171150] |
Chr1:32786971 [GRCh38]
Chr1:33252572 [GRCh37]
Chr1:1p35.1 |
likely pathogenic |
| NM_003680.4(YARS1):c.1199G>A (p.Arg400Gln) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV001332308] |
Chr1:32780220 [GRCh38]
Chr1:33245821 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.130A>G (p.Thr44Ala) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV001332309] |
Chr1:32810985 [GRCh38]
Chr1:33276586 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.241G>C (p.Asp81His) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV003507254]|not provided [RCV000143806] |
Chr1:32810730 [GRCh38]
Chr1:33276331 [GRCh37]
Chr1:1p35.1 |
benign|uncertain significance |
| NM_003680.4(YARS1):c.1464C>T (p.Phe488=) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV001496566]|Inborn genetic diseases [RCV002460951]|not provided [RCV000174316] |
Chr1:32779394 [GRCh38]
Chr1:33244995 [GRCh37]
Chr1:1p35.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| GRCh38/hg38 1p35.3-35.1(chr1:28424867-33122854)x1 |
copy number loss |
See cases [RCV000135447] |
Chr1:28424867..33122854 [GRCh38]
Chr1:28751378..33588455 [GRCh37]
Chr1:28623965..33361042 [NCBI36]
Chr1:1p35.3-35.1 |
pathogenic |
| GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3 |
copy number gain |
See cases [RCV000138891] |
Chr1:24381206..41401517 [GRCh38]
Chr1:24707696..41886350 [GRCh37]
Chr1:24580283..41658937 [NCBI36]
Chr1:1p36.11-34.2 |
pathogenic |
| NM_003680.4(YARS1):c.241_242delinsAT (p.Asp81Ile) |
indel |
Charcot-Marie-Tooth disease dominant intermediate C [RCV000167583] |
Chr1:32810729..32810730 [GRCh38]
Chr1:33276330..33276331 [GRCh37]
Chr1:1p35.1 |
pathogenic|not provided |
| NM_003680.4(YARS1):c.391C>T (p.Leu131=) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV000392105]|Inborn genetic diseases [RCV002461063] |
Chr1:32806601 [GRCh38]
Chr1:33272202 [GRCh37]
Chr1:1p35.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003680.4(YARS1):c.1180G>A (p.Val394Met) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV000195932] |
Chr1:32780239 [GRCh38]
Chr1:33245840 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.546A>G (p.Gln182=) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV000197135]|Inborn genetic diseases [RCV002460983]|YARS1-related disorder [RCV003927858] |
Chr1:32797808 [GRCh38]
Chr1:33263409 [GRCh37]
Chr1:1p35.1 |
likely pathogenic|likely benign|uncertain significance |
| NM_003680.4(YARS1):c.1015G>A (p.Ala339Thr) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV000199640]|not provided [RCV003736635]|not specified [RCV000434553] |
Chr1:32782431 [GRCh38]
Chr1:33248032 [GRCh37]
Chr1:1p35.1 |
benign|likely benign |
| NM_003680.4(YARS1):c.60G>A (p.Glu20=) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV001002526]|not provided [RCV001705444] |
Chr1:32811055 [GRCh38]
Chr1:33276656 [GRCh37]
Chr1:1p35.1 |
benign|likely benign |
| NM_003680.4(YARS1):c.415G>A (p.Val139Met) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV000283198] |
Chr1:32806577 [GRCh38]
Chr1:33272178 [GRCh37]
Chr1:1p35.1 |
benign|uncertain significance |
| NM_003680.4(YARS1):c.1141-9C>G |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV000525587] |
Chr1:32780287 [GRCh38]
Chr1:33245888 [GRCh37]
Chr1:1p35.1 |
benign|likely benign|uncertain significance |
| NM_003680.4(YARS1):c.946G>A (p.Ala316Thr) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV000276182]|Inborn genetic diseases [RCV002520486]|Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2 [RCV003992265]|not provided [RCV004725152] |
Chr1:32782500 [GRCh38]
Chr1:33248101 [GRCh37]
Chr1:1p35.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003680.4(YARS1):c.684+3A>G |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV000291523] |
Chr1:32791159 [GRCh38]
Chr1:33256760 [GRCh37]
Chr1:1p35.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003680.4(YARS1):c.1374G>A (p.Pro458=) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV001083470]|Inborn genetic diseases [RCV002461060]|YARS1-related disorder [RCV003949992]|not provided [RCV000843800] |
Chr1:32779484 [GRCh38]
Chr1:33245085 [GRCh37]
Chr1:1p35.1 |
benign|likely benign |
| NM_003680.4(YARS1):c.510+10G>C |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV001080452]|Charcot-Marie-Tooth, Intermediate [RCV000377682]|not provided [RCV000725523]|not specified [RCV000361009] |
Chr1:32806472 [GRCh38]
Chr1:33272073 [GRCh37]
Chr1:1p35.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003680.4(YARS1):c.685-11A>G |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV000381240] |
Chr1:32787086 [GRCh38]
Chr1:33252687 [GRCh37]
Chr1:1p35.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_003680.4(YARS1):c.1179C>T (p.Asp393=) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV000205784]|Inborn genetic diseases [RCV002460990] |
Chr1:32780240 [GRCh38]
Chr1:33245841 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.1571G>C (p.Gly524Ala) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV000203886]|Inborn genetic diseases [RCV003165493]|not provided [RCV000523644] |
Chr1:32775997 [GRCh38]
Chr1:33241598 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.1573G>A (p.Gly525Arg) |
single nucleotide variant |
Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2 [RCV000516098] |
Chr1:32775995 [GRCh38]
Chr1:33241596 [GRCh37]
Chr1:1p35.1 |
pathogenic|uncertain significance |
| GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3 |
copy number loss |
not provided [RCV000762767] |
Chr1:20608823..120546301 [GRCh37]
Chr1:1p36.12-12 |
likely benign |
| NM_003680.4(YARS1):c.497A>G (p.Tyr166Cys) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002241189]|not provided [RCV001507948] |
Chr1:32806495 [GRCh38]
Chr1:33272096 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.586G>C (p.Glu196Gln) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV000235060] |
Chr1:32797768 [GRCh38]
Chr1:33263369 [GRCh37]
Chr1:1p35.1 |
pathogenic|likely pathogenic |
| NM_003680.4(YARS1):c.63T>C (p.Val21=) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV001483217]|Inborn genetic diseases [RCV002461000]|not specified [RCV000605919] |
Chr1:32811052 [GRCh38]
Chr1:33276653 [GRCh37]
Chr1:1p35.1 |
benign|likely benign |
| NM_003680.4(YARS1):c.874T>G (p.Tyr292Asp) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV000792475]|Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2 [RCV004725153]|not provided [RCV000993560] |
Chr1:32786394 [GRCh38]
Chr1:33251995 [GRCh37]
Chr1:1p35.1 |
likely benign|uncertain significance |
| NM_003680.4(YARS1):c.298G>A (p.Val100Met) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV000756940] |
Chr1:32810673 [GRCh38]
Chr1:33276274 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.1543G>A (p.Gly515Ser) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002229374]|not provided [RCV000235789] |
Chr1:32776025 [GRCh38]
Chr1:33241626 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.57+14G>T |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV000334966]|not provided [RCV004713669]|not specified [RCV000428328] |
Chr1:32817174 [GRCh38]
Chr1:33282775 [GRCh37]
Chr1:1p35.1 |
benign |
| NM_003680.4(YARS1):c.414C>T (p.Ser138=) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV001504450]|Charcot-Marie-Tooth, Intermediate [RCV000343052]|Inborn genetic diseases [RCV002461062]|not specified [RCV000602252] |
Chr1:32806578 [GRCh38]
Chr1:33272179 [GRCh37]
Chr1:1p35.1 |
likely benign|uncertain significance |
| NM_003680.4(YARS1):c.1507G>A (p.Ala503Thr) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV000354265] |
Chr1:32776061 [GRCh38]
Chr1:33241662 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.1218G>C (p.Leu406=) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV000576549]|not provided [RCV004714774]|not specified [RCV000438988] |
Chr1:32780201 [GRCh38]
Chr1:33245802 [GRCh37]
Chr1:1p35.1 |
benign |
| NM_003680.4(YARS1):c.*680A>G |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV000282699] |
Chr1:32775301 [GRCh38]
Chr1:33240902 [GRCh37]
Chr1:1p35.1 |
benign|uncertain significance |
| NM_003680.4(YARS1):c.410C>G (p.Ser137Cys) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV001563638]|not provided [RCV000521125] |
Chr1:32806582 [GRCh38]
Chr1:33272183 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.3(YARS1):c.-283G>A |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV000274803] |
Chr1:32817527 [GRCh38]
Chr1:33283128 [GRCh37]
Chr1:1p35.1 |
benign|uncertain significance |
| NM_003680.3(YARS1):c.-442C>T |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV000268821] |
Chr1:32817686 [GRCh38]
Chr1:33283287 [GRCh37]
Chr1:1p35.1 |
benign|likely benign |
| NM_003680.4(YARS1):c.*439T>C |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV000352414] |
Chr1:32775542 [GRCh38]
Chr1:33241143 [GRCh37]
Chr1:1p35.1 |
benign|uncertain significance |
| NM_003680.3(YARS1):c.-741C>T |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV000335351] |
Chr1:32817985 [GRCh38]
Chr1:33283586 [GRCh37]
Chr1:1p35.1 |
benign|uncertain significance |
| NM_003680.3(YARS1):c.-683C>T |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV000377277]|not provided [RCV000839583] |
Chr1:32817927 [GRCh38]
Chr1:33283528 [GRCh37]
Chr1:1p35.1 |
benign |
| NM_003680.4(YARS1):c.*138G>A |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV000403104]|not provided [RCV004713668] |
Chr1:32775843 [GRCh38]
Chr1:33241444 [GRCh37]
Chr1:1p35.1 |
benign|likely benign |
| NM_003680.3(YARS1):c.-738C>G |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV000287263]|not provided [RCV000839582] |
Chr1:32817982 [GRCh38]
Chr1:33283583 [GRCh37]
Chr1:1p35.1 |
benign |
| NM_003680.4(YARS1):c.*386G>T |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV000289253] |
Chr1:32775595 [GRCh38]
Chr1:33241196 [GRCh37]
Chr1:1p35.1 |
benign|likely benign |
| NM_003680.4(YARS1):c.*599A>C |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV000318988] |
Chr1:32775382 [GRCh38]
Chr1:33240983 [GRCh37]
Chr1:1p35.1 |
likely benign|uncertain significance |
| NM_003680.4(YARS1):c.*305CA[1] |
microsatellite |
Charcot-Marie-Tooth, Intermediate [RCV000405036] |
Chr1:32775673..32775674 [GRCh38]
Chr1:33241274..33241275 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.*21C>A |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV000304126] |
Chr1:32775960 [GRCh38]
Chr1:33241561 [GRCh37]
Chr1:1p35.1 |
benign|likely benign |
| NM_003680.3(YARS1):c.-662G>A |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV000320383] |
Chr1:32817906 [GRCh38]
Chr1:33283507 [GRCh37]
Chr1:1p35.1 |
benign|uncertain significance |
| NM_003680.3(YARS1):c.-539G>T |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV000383080]|not provided [RCV004713670] |
Chr1:32817783 [GRCh38]
Chr1:33283384 [GRCh37]
Chr1:1p35.1 |
benign|likely benign |
| NM_003680.4(YARS1):c.-110G>A |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV000404578] |
Chr1:32817354 [GRCh38]
Chr1:33282955 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.*284A>G |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV000340891]|not provided [RCV001557093] |
Chr1:32775697 [GRCh38]
Chr1:33241298 [GRCh37]
Chr1:1p35.1 |
benign|likely benign |
| NM_003680.4(YARS1):c.*442AAAGG[1] |
microsatellite |
Charcot-Marie-Tooth, Intermediate [RCV000292800] |
Chr1:32775530..32775534 [GRCh38]
Chr1:33241131..33241135 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.*369G>A |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV000344360] |
Chr1:32775612 [GRCh38]
Chr1:33241213 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.*539A>G |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV000387451]|not provided [RCV004691212] |
Chr1:32775442 [GRCh38]
Chr1:33241043 [GRCh37]
Chr1:1p35.1 |
likely benign|uncertain significance |
| NM_003680.4(YARS1):c.*293A>G |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV000309367]|not provided [RCV001538542] |
Chr1:32775688 [GRCh38]
Chr1:33241289 [GRCh37]
Chr1:1p35.1 |
benign |
| NM_003680.3(YARS1):c.-464C>T |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV000326260]|not provided [RCV004714775] |
Chr1:32817708 [GRCh38]
Chr1:33283309 [GRCh37]
Chr1:1p35.1 |
benign|likely benign |
| NM_003680.3(YARS1):c.-269C>T |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV000368735] |
Chr1:32817513 [GRCh38]
Chr1:33283114 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.3(YARS1):c.-437G>A |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV000370475] |
Chr1:32817681 [GRCh38]
Chr1:33283282 [GRCh37]
Chr1:1p35.1 |
benign|likely benign |
| NM_003680.4(YARS1):c.*681T>G |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV000372308] |
Chr1:32775300 [GRCh38]
Chr1:33240901 [GRCh37]
Chr1:1p35.1 |
benign|likely benign |
| NM_003680.4(YARS1):c.1275C>T (p.Asn425=) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV000864086]|Inborn genetic diseases [RCV002461061] |
Chr1:32780144 [GRCh38]
Chr1:33245745 [GRCh37]
Chr1:1p35.1 |
benign|likely benign |
| NM_003680.3(YARS1):c.-620A>C |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV000272204] |
Chr1:32817864 [GRCh38]
Chr1:33283465 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.52C>T (p.Leu18=) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV000464446]|Inborn genetic diseases [RCV002461059]|not provided [RCV001590908]|not specified [RCV000406525] |
Chr1:32817193 [GRCh38]
Chr1:33282794 [GRCh37]
Chr1:1p35.1 |
benign|likely benign |
| NM_003680.4(YARS1):c.909T>C (p.Val303=) |
single nucleotide variant |
not provided [RCV003312120] |
Chr1:32782537 [GRCh38]
Chr1:33248138 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.592-269G>A |
single nucleotide variant |
not provided [RCV001567143] |
Chr1:32791523 [GRCh38]
Chr1:33257124 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.511-14G>A |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV000346400] |
Chr1:32797857 [GRCh38]
Chr1:33263458 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.*724T>C |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV000317882] |
Chr1:32775257 [GRCh38]
Chr1:33240858 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.*399G>A |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV000407267] |
Chr1:32775582 [GRCh38]
Chr1:33241183 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.982T>C (p.Phe328Leu) |
single nucleotide variant |
Charcot-Marie-Tooth, Intermediate [RCV000389284] |
Chr1:32782464 [GRCh38]
Chr1:33248065 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.3(YARS1):c.-167T>A |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV000299970] |
Chr1:32817411 [GRCh38]
Chr1:33283012 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.483G>C (p.Leu161=) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV001088959]|Inborn genetic diseases [RCV002461302]|not provided [RCV000756939] |
Chr1:32806509 [GRCh38]
Chr1:33272110 [GRCh37]
Chr1:1p35.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003680.3(YARS1):c.-333C>T |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV000313499] |
Chr1:32817577 [GRCh38]
Chr1:33283178 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.1042+3A>C |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV000640571] |
Chr1:32782401 [GRCh38]
Chr1:33248002 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.1048A>G (p.Met350Val) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV000640577] |
Chr1:32781140 [GRCh38]
Chr1:33246741 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.1082A>T (p.Glu361Val) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV000536824]|YARS1-related disorder [RCV003905389]|not specified [RCV000614592] |
Chr1:32781106 [GRCh38]
Chr1:33246707 [GRCh37]
Chr1:1p35.1 |
benign |
| NM_003680.4(YARS1):c.205-17C>A |
single nucleotide variant |
not specified [RCV000423611] |
Chr1:32810783 [GRCh38]
Chr1:33276384 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.1128C>T (p.Ile376=) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV001423770]|Inborn genetic diseases [RCV002461152]|not provided [RCV000876594]|not specified [RCV000431038] |
Chr1:32781060 [GRCh38]
Chr1:33246661 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.57+16T>C |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002230031]|not specified [RCV000418609] |
Chr1:32817172 [GRCh38]
Chr1:33282773 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.-28G>A |
single nucleotide variant |
not specified [RCV000425009] |
Chr1:32817272 [GRCh38]
Chr1:33282873 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.1008G>A (p.Leu336=) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV001002454]|Inborn genetic diseases [RCV002461182]|not provided [RCV000861108] |
Chr1:32782438 [GRCh38]
Chr1:33248039 [GRCh37]
Chr1:1p35.1 |
benign|likely benign |
| NM_003680.4(YARS1):c.1154A>C (p.Asp385Ala) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV001314129]|Inborn genetic diseases [RCV002461183]|not provided [RCV000429196] |
Chr1:32780265 [GRCh38]
Chr1:33245866 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.381-6C>T |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV000869056]|not specified [RCV000422408] |
Chr1:32806617 [GRCh38]
Chr1:33272218 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.685-16G>A |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002230283]|not specified [RCV000444459] |
Chr1:32787091 [GRCh38]
Chr1:33252692 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NC_000001.11:g.(?_32810591)_(32811057_?)del |
deletion |
Charcot-Marie-Tooth disease dominant intermediate C [RCV000474397] |
Chr1:32810591..32811057 [GRCh38]
Chr1:33276192..33276658 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.1228G>A (p.Val410Met) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV000457658]|Inborn genetic diseases [RCV002461223]|not provided [RCV003328588] |
Chr1:32780191 [GRCh38]
Chr1:33245792 [GRCh37]
Chr1:1p35.1 |
benign|likely benign|uncertain significance |
| NM_003680.4(YARS1):c.1016C>T (p.Ala339Val) |
single nucleotide variant |
not provided [RCV000486400] |
Chr1:32782430 [GRCh38]
Chr1:33248031 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.739_740delinsGC (p.Lys247Ala) |
indel |
Charcot-Marie-Tooth disease dominant intermediate C [RCV000531481] |
Chr1:32787020..32787021 [GRCh38]
Chr1:33252621..33252622 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.8dup (p.Asp3fs) |
duplication |
not provided [RCV000478852] |
Chr1:32817236..32817237 [GRCh38]
Chr1:33282837..33282838 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 |
copy number gain |
See cases [RCV000510383] |
Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44 |
pathogenic |
| GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) |
copy number gain |
See cases [RCV000510926] |
Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44 |
pathogenic |
| NM_003680.4(YARS1):c.678A>G (p.Ser226=) |
single nucleotide variant |
Inborn genetic diseases [RCV002461915]|not specified [RCV000601581] |
Chr1:32791168 [GRCh38]
Chr1:33256769 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.523G>T (p.Glu175Ter) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV000538716] |
Chr1:32797831 [GRCh38]
Chr1:33263432 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.820+17del |
deletion |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002232582]|not specified [RCV000601803] |
Chr1:32786923 [GRCh38]
Chr1:33252524 [GRCh37]
Chr1:1p35.1 |
benign|likely benign |
| NM_003680.4(YARS1):c.1117G>A (p.Gly373Arg) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV000640570] |
Chr1:32781071 [GRCh38]
Chr1:33246672 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.695T>G (p.Ile232Ser) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV000555727] |
Chr1:32787065 [GRCh38]
Chr1:33252666 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.1141-15G>A |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV003767470]|not specified [RCV000601889] |
Chr1:32780293 [GRCh38]
Chr1:33245894 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.795G>C (p.Lys265Asn) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV000556540]|Inborn genetic diseases [RCV002461303]|not provided [RCV001597164] |
Chr1:32786965 [GRCh38]
Chr1:33252566 [GRCh37]
Chr1:1p35.1 |
likely benign|uncertain significance |
| NM_003680.4(YARS1):c.380+19A>G |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002529611]|not specified [RCV000608109] |
Chr1:32810572 [GRCh38]
Chr1:33276173 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.211A>G (p.Ile71Val) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV000538917]|Inborn genetic diseases [RCV002461301]|not provided [RCV003441931] |
Chr1:32810760 [GRCh38]
Chr1:33276361 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.591+9C>T |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002531614]|not specified [RCV000616939] |
Chr1:32797754 [GRCh38]
Chr1:33263355 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.1191T>C (p.Ala397=) |
single nucleotide variant |
Inborn genetic diseases [RCV002461928]|not specified [RCV000611254] |
Chr1:32780228 [GRCh38]
Chr1:33245829 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.205-19C>T |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002529436]|not specified [RCV000614400] |
Chr1:32810785 [GRCh38]
Chr1:33276386 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.1514G>A (p.Trp505Ter) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV000640569] |
Chr1:32776054 [GRCh38]
Chr1:33241655 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.221C>T (p.Ala74Val) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV000640573] |
Chr1:32810750 [GRCh38]
Chr1:33276351 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.205-2A>G |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV000640574] |
Chr1:32810768 [GRCh38]
Chr1:33276369 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.1348C>T (p.Arg450Cys) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV000640575]|Inborn genetic diseases [RCV002461945]|not provided [RCV002464277] |
Chr1:32779510 [GRCh38]
Chr1:33245111 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.176T>C (p.Ile59Thr) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV000698802]|Neurodevelopmental delay [RCV002274090]|Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2 [RCV001813550]|recessive ARS-related multisystem disease [RCV000984016] |
Chr1:32810939 [GRCh38]
Chr1:33276540 [GRCh37]
Chr1:1p35.1 |
pathogenic|likely pathogenic|uncertain significance |
| NC_000001.10:g.(?_33241563)_(46663513_?)dup |
duplication |
Charcot-Marie-Tooth disease dominant intermediate C [RCV000708276] |
Chr1:33241563..46663513 [GRCh37]
Chr1:1p35.1-34.1 |
uncertain significance |
| NM_003680.4(YARS1):c.1175T>C (p.Ile392Thr) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV000685408]|Inborn genetic diseases [RCV004026196] |
Chr1:32780244 [GRCh38]
Chr1:33245845 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.913C>T (p.His305Tyr) |
single nucleotide variant |
not provided [RCV000714219] |
Chr1:32782533 [GRCh38]
Chr1:33248134 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.1012A>G (p.Ser338Gly) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV000692908]|Inborn genetic diseases [RCV002462030] |
Chr1:32782434 [GRCh38]
Chr1:33248035 [GRCh37]
Chr1:1p35.1 |
likely benign|uncertain significance |
| NM_003680.4(YARS1):c.1049T>C (p.Met350Thr) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV000690389] |
Chr1:32781139 [GRCh38]
Chr1:33246740 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.1507G>T (p.Ala503Ser) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV000695214]|not provided [RCV003126907] |
Chr1:32776061 [GRCh38]
Chr1:33241662 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.1099C>T (p.Arg367Trp) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV000687751]|Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2 [RCV002226737]|not provided [RCV001584557]|recessive ARS-related multisystem disease [RCV001264808] |
Chr1:32781089 [GRCh38]
Chr1:33246690 [GRCh37]
Chr1:1p35.1 |
pathogenic|likely pathogenic|likely benign|uncertain significance |
| NM_003680.4(YARS1):c.502G>A (p.Gly168Arg) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV000704879] |
Chr1:32806490 [GRCh38]
Chr1:33272091 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.1094del (p.Pro365fs) |
deletion |
Charcot-Marie-Tooth disease dominant intermediate C [RCV000705047]|not provided [RCV001575980] |
Chr1:32781094 [GRCh38]
Chr1:33246695 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.569A>G (p.Lys190Arg) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV000696571] |
Chr1:32797785 [GRCh38]
Chr1:33263386 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.181G>A (p.Asp61Asn) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV000696929]|Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2 [RCV001813549] |
Chr1:32810934 [GRCh38]
Chr1:33276535 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.440A>C (p.Lys147Thr) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV000694621] |
Chr1:32806552 [GRCh38]
Chr1:33272153 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 |
copy number gain |
not provided [RCV000736295] |
Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44 |
pathogenic |
| GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 |
copy number gain |
not provided [RCV000736305] |
Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44 |
pathogenic |
| GRCh37/hg19 1p35.2-34.3(chr1:31562164-37421958)x3 |
copy number gain |
not provided [RCV000748949] |
Chr1:31562164..37421958 [GRCh37]
Chr1:1p35.2-34.3 |
pathogenic |
| NM_003680.4(YARS1):c.821-74_821-52del |
deletion |
not provided [RCV001530744] |
Chr1:32786499..32786521 [GRCh38]
Chr1:33252100..33252122 [GRCh37]
Chr1:1p35.1 |
benign |
| NM_003680.4(YARS1):c.820+9C>G |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV001402915] |
Chr1:32786931 [GRCh38]
Chr1:33252532 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.1361C>T (p.Pro454Leu) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002549846]|not provided [RCV000993966] |
Chr1:32779497 [GRCh38]
Chr1:33245098 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.819C>T (p.Ser273=) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV001043092] |
Chr1:32786941 [GRCh38]
Chr1:33252542 [GRCh37]
Chr1:1p35.1 |
likely benign|uncertain significance |
| NM_003680.4(YARS1):c.1042+254C>G |
single nucleotide variant |
not provided [RCV001575226] |
Chr1:32782150 [GRCh38]
Chr1:33247751 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.681A>G (p.Glu227=) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV000868262] |
Chr1:32791165 [GRCh38]
Chr1:33256766 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.270A>G (p.Leu90=) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV001437654] |
Chr1:32810701 [GRCh38]
Chr1:33276302 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.1335-8C>G |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV001488464] |
Chr1:32779531 [GRCh38]
Chr1:33245132 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.1014C>T (p.Ser338=) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV001500470] |
Chr1:32782432 [GRCh38]
Chr1:33248033 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.1246C>A (p.Gln416Lys) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV000868595]|Inborn genetic diseases [RCV002539008] |
Chr1:32780173 [GRCh38]
Chr1:33245774 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.237C>G (p.Tyr79Ter) |
single nucleotide variant |
recessive ARS-related multisystem disease [RCV000984017] |
Chr1:32810734 [GRCh38]
Chr1:33276335 [GRCh37]
Chr1:1p35.1 |
pathogenic |
| NM_003680.4(YARS1):c.429C>T (p.His143=) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV003615865] |
Chr1:32806563 [GRCh38]
Chr1:33272164 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.1435G>A (p.Glu479Lys) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV001058979]|Inborn genetic diseases [RCV002462297]|not provided [RCV003153917] |
Chr1:32779423 [GRCh38]
Chr1:33245024 [GRCh37]
Chr1:1p35.1 |
likely benign|uncertain significance |
| NM_003680.4(YARS1):c.1487A>C (p.Lys496Thr) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV001057133] |
Chr1:32776081 [GRCh38]
Chr1:33241682 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.347A>T (p.Lys116Met) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV001036003] |
Chr1:32810624 [GRCh38]
Chr1:33276225 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.1570G>C (p.Gly524Arg) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV001061034] |
Chr1:32775998 [GRCh38]
Chr1:33241599 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| GRCh37/hg19 1p35.1-34.3(chr1:32859415-36454915) |
copy number loss |
not provided [RCV000767772] |
Chr1:32859415..36454915 [GRCh37]
Chr1:1p35.1-34.3 |
pathogenic |
| NM_003680.4(YARS1):c.542C>A (p.Ala181Asp) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV000793195]|Inborn genetic diseases [RCV002462140] |
Chr1:32797812 [GRCh38]
Chr1:33263413 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.471G>A (p.Glu157=) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV000977195] |
Chr1:32806521 [GRCh38]
Chr1:33272122 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.1079C>A (p.Pro360Gln) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV000867567]|Inborn genetic diseases [RCV003169143] |
Chr1:32781109 [GRCh38]
Chr1:33246710 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.1486A>G (p.Lys496Glu) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV000864767] |
Chr1:32776082 [GRCh38]
Chr1:33241683 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.1141-4G>A |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV001462282] |
Chr1:32780282 [GRCh38]
Chr1:33245883 [GRCh37]
Chr1:1p35.1 |
pathogenic|likely benign |
| NM_003680.4(YARS1):c.507G>A (p.Leu169=) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV000872318] |
Chr1:32806485 [GRCh38]
Chr1:33272086 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.1531A>G (p.Met511Val) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV000796864]|Inborn genetic diseases [RCV002462149] |
Chr1:32776037 [GRCh38]
Chr1:33241638 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.205-8T>C |
single nucleotide variant |
not provided [RCV000937807] |
Chr1:32810774 [GRCh38]
Chr1:33276375 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.592-268G>A |
single nucleotide variant |
not provided [RCV000831946] |
Chr1:32791522 [GRCh38]
Chr1:33257123 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.122G>A (p.Gly41Glu) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV000823816]|Inborn genetic diseases [RCV002462190] |
Chr1:32810993 [GRCh38]
Chr1:33276594 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.1405del (p.Phe468_Val469insTer) |
deletion |
Charcot-Marie-Tooth disease dominant intermediate C [RCV000798248] |
Chr1:32779453 [GRCh38]
Chr1:33245054 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.499C>A (p.Pro167Thr) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV000819906]|Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2 [RCV001533215]|not provided [RCV000993967] |
Chr1:32806493 [GRCh38]
Chr1:33272094 [GRCh37]
Chr1:1p35.1 |
pathogenic|likely pathogenic|uncertain significance |
| NM_003680.4(YARS1):c.592-29G>T |
single nucleotide variant |
not provided [RCV000830057] |
Chr1:32791283 [GRCh38]
Chr1:33256884 [GRCh37]
Chr1:1p35.1 |
benign |
| NM_003680.4(YARS1):c.684+118C>G |
single nucleotide variant |
not provided [RCV000830058] |
Chr1:32791044 [GRCh38]
Chr1:33256645 [GRCh37]
Chr1:1p35.1 |
benign |
| NM_003680.4(YARS1):c.685-211A>G |
single nucleotide variant |
not provided [RCV000829486] |
Chr1:32787286 [GRCh38]
Chr1:33252887 [GRCh37]
Chr1:1p35.1 |
benign |
| NM_003680.4(YARS1):c.1140+253A>G |
single nucleotide variant |
not provided [RCV000833183] |
Chr1:32780795 [GRCh38]
Chr1:33246396 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.1349G>C (p.Arg450Pro) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV000803082]|Inborn genetic diseases [RCV002462162] |
Chr1:32779509 [GRCh38]
Chr1:33245110 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.1141-298A>T |
single nucleotide variant |
not provided [RCV000831029] |
Chr1:32780576 [GRCh38]
Chr1:33246177 [GRCh37]
Chr1:1p35.1 |
benign |
| GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3 |
copy number gain |
Global developmental delay [RCV000787285] |
Chr1:103343285..103455144 [GRCh37]
Chr1:1p36.22-21.1 |
uncertain significance |
| NM_003680.4(YARS1):c.906+244C>T |
single nucleotide variant |
not provided [RCV000839259] |
Chr1:32786118 [GRCh38]
Chr1:33251719 [GRCh37]
Chr1:1p35.1 |
benign |
| NM_003680.4(YARS1):c.906+224A>G |
single nucleotide variant |
not provided [RCV000829487] |
Chr1:32786138 [GRCh38]
Chr1:33251739 [GRCh37]
Chr1:1p35.1 |
benign |
| NM_003680.4(YARS1):c.209C>G (p.Thr70Arg) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV000809916] |
Chr1:32810762 [GRCh38]
Chr1:33276363 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.1198C>T (p.Arg400Trp) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV000795806]|not provided [RCV003411749] |
Chr1:32780221 [GRCh38]
Chr1:33245822 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NC_000001.11:g.(?_32810581)_(32811067_?)del |
deletion |
Charcot-Marie-Tooth disease dominant intermediate C [RCV001032213] |
Chr1:33276182..33276668 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.1100G>A (p.Arg367Gln) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV000796265]|Inborn genetic diseases [RCV002462146] |
Chr1:32781088 [GRCh38]
Chr1:33246689 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.821-3T>C |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV000815224]|not specified [RCV003994127] |
Chr1:32786450 [GRCh38]
Chr1:33252051 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.1080A>G (p.Pro360=) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV000864466] |
Chr1:32781108 [GRCh38]
Chr1:33246709 [GRCh37]
Chr1:1p35.1 |
benign|likely benign |
| NM_003680.4(YARS1):c.557T>C (p.Ile186Thr) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV000794420] |
Chr1:32797797 [GRCh38]
Chr1:33263398 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.1212C>T (p.Ser404=) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV001481217] |
Chr1:32780207 [GRCh38]
Chr1:33245808 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.205-57C>T |
single nucleotide variant |
not provided [RCV000829485] |
Chr1:32810823 [GRCh38]
Chr1:33276424 [GRCh37]
Chr1:1p35.1 |
benign |
| NM_003680.4(YARS1):c.592-10A>C |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV001474250] |
Chr1:32791264 [GRCh38]
Chr1:33256865 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.1407G>T (p.Val469=) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV001441678]|not provided [RCV003411861] |
Chr1:32779451 [GRCh38]
Chr1:33245052 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.1042+208C>A |
single nucleotide variant |
not provided [RCV000830060] |
Chr1:32782196 [GRCh38]
Chr1:33247797 [GRCh37]
Chr1:1p35.1 |
benign |
| NM_003680.4(YARS1):c.178G>A (p.Ala60Thr) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV000801299]|not provided [RCV003321743] |
Chr1:32810937 [GRCh38]
Chr1:33276538 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.880G>A (p.Asp294Asn) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV000824093] |
Chr1:32786388 [GRCh38]
Chr1:33251989 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.1149T>C (p.Asp383=) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV001432823] |
Chr1:32780270 [GRCh38]
Chr1:33245871 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.3(YARS1):c.-415C>T |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV001099840] |
Chr1:32817659 [GRCh38]
Chr1:33283260 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.3(YARS1):c.-441G>C |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV001099841] |
Chr1:32817685 [GRCh38]
Chr1:33283286 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.579C>T (p.Thr193=) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV001096318] |
Chr1:32797775 [GRCh38]
Chr1:33263376 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.3(YARS1):c.-260G>A |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV001099839] |
Chr1:32817504 [GRCh38]
Chr1:33283105 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| GRCh37/hg19 1p35.2-35.1(chr1:30819875-34380419)x3 |
copy number gain |
not provided [RCV001005079] |
Chr1:30819875..34380419 [GRCh37]
Chr1:1p35.2-35.1 |
likely pathogenic |
| NM_003680.4(YARS1):c.1574G>A (p.Gly525Glu) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV001067309]|Inborn genetic diseases [RCV002462316] |
Chr1:32775994 [GRCh38]
Chr1:33241595 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.877G>A (p.Val293Met) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV001208778]|not provided [RCV001567235] |
Chr1:32786391 [GRCh38]
Chr1:33251992 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.112del (p.Ile38fs) |
deletion |
Charcot-Marie-Tooth disease dominant intermediate C [RCV001224258]|Inborn genetic diseases [RCV002462844] |
Chr1:32811003 [GRCh38]
Chr1:33276604 [GRCh37]
Chr1:1p35.1 |
pathogenic|uncertain significance |
| NM_003680.4(YARS1):c.166A>G (p.Met56Val) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV001209619]|not provided [RCV003325551] |
Chr1:32810949 [GRCh38]
Chr1:33276550 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.232G>A (p.Ala78Thr) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV001240333] |
Chr1:32810739 [GRCh38]
Chr1:33276340 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.763G>A (p.Val255Met) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV001203683] |
Chr1:32786997 [GRCh38]
Chr1:33252598 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.899C>T (p.Ala300Val) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV001214681] |
Chr1:32786369 [GRCh38]
Chr1:33251970 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.209C>T (p.Thr70Ile) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV001235574] |
Chr1:32810762 [GRCh38]
Chr1:33276363 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.566_567del (p.Arg189fs) |
microsatellite |
See cases [RCV001196090] |
Chr1:32797787..32797788 [GRCh38]
Chr1:33263388..33263389 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.1281dup (p.Pro428fs) |
duplication |
Charcot-Marie-Tooth disease dominant intermediate C [RCV001246562] |
Chr1:32780137..32780138 [GRCh38]
Chr1:33245738..33245739 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.347A>G (p.Lys116Arg) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV003615866]|not provided [RCV000993559] |
Chr1:32810624 [GRCh38]
Chr1:33276225 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.1349G>A (p.Arg450His) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV001215490] |
Chr1:32779509 [GRCh38]
Chr1:33245110 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.3(YARS1):c.-782G>A |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV001096407] |
Chr1:32818026 [GRCh38]
Chr1:33283627 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.937G>A (p.Val313Ile) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV001247101]|Inborn genetic diseases [RCV002462878] |
Chr1:32782509 [GRCh38]
Chr1:33248110 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.1141-286G>A |
single nucleotide variant |
not provided [RCV001577939] |
Chr1:32780564 [GRCh38]
Chr1:33246165 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.405A>T (p.Arg135Ser) |
single nucleotide variant |
not provided [RCV003126338] |
Chr1:32806587 [GRCh38]
Chr1:33272188 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.685-278G>A |
single nucleotide variant |
not provided [RCV001590747] |
Chr1:32787353 [GRCh38]
Chr1:33252954 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.381-96dup |
duplication |
not provided [RCV001723045] |
Chr1:32806706..32806707 [GRCh38]
Chr1:33272307..33272308 [GRCh37]
Chr1:1p35.1 |
benign |
| NM_003680.4(YARS1):c.511-44A>G |
single nucleotide variant |
not provided [RCV001561977] |
Chr1:32797887 [GRCh38]
Chr1:33263488 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.1140+209A>G |
single nucleotide variant |
not provided [RCV001650816] |
Chr1:32780839 [GRCh38]
Chr1:33246440 [GRCh37]
Chr1:1p35.1 |
benign |
| NM_003680.4(YARS1):c.1527C>T (p.Asn509=) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002545911] |
Chr1:32776041 [GRCh38]
Chr1:33241642 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.996C>T (p.Ala332=) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV001414035] |
Chr1:32782450 [GRCh38]
Chr1:33248051 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.1227C>T (p.Phe409=) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV001418433] |
Chr1:32780192 [GRCh38]
Chr1:33245793 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.505C>T (p.Leu169=) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV001518632]|YARS1-related disorder [RCV003965661] |
Chr1:32806487 [GRCh38]
Chr1:33272088 [GRCh37]
Chr1:1p35.1 |
benign|likely benign |
| NM_003680.4(YARS1):c.511-10C>T |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV000875561] |
Chr1:32797853 [GRCh38]
Chr1:33263454 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.294G>C (p.Glu98Asp) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV001071350] |
Chr1:32810677 [GRCh38]
Chr1:33276278 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.380+4A>G |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV001245076] |
Chr1:32810587 [GRCh38]
Chr1:33276188 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.619C>T (p.Arg207Trp) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV001225053]|Inborn genetic diseases [RCV004032528] |
Chr1:32791227 [GRCh38]
Chr1:33256828 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.631A>T (p.Met211Leu) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV001228150] |
Chr1:32791215 [GRCh38]
Chr1:33256816 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.684G>C (p.Glu228Asp) |
single nucleotide variant |
not provided [RCV000913711] |
Chr1:32791162 [GRCh38]
Chr1:33256763 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.57+269C>G |
single nucleotide variant |
not provided [RCV001578150] |
Chr1:32816919 [GRCh38]
Chr1:33282520 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.907-31T>A |
single nucleotide variant |
not provided [RCV001574198] |
Chr1:32782570 [GRCh38]
Chr1:33248171 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.510+91G>A |
single nucleotide variant |
not provided [RCV001540696] |
Chr1:32806391 [GRCh38]
Chr1:33271992 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.204+48C>T |
single nucleotide variant |
not provided [RCV001657455] |
Chr1:32810863 [GRCh38]
Chr1:33276464 [GRCh37]
Chr1:1p35.1 |
benign |
| NM_003680.3(YARS1):c.-129C>A |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV001098056] |
Chr1:32817373 [GRCh38]
Chr1:33282974 [GRCh37]
Chr1:1p35.1 |
benign |
| NM_003680.4(YARS1):c.424C>A (p.Gln142Lys) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV001066302] |
Chr1:32806568 [GRCh38]
Chr1:33272169 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.3(YARS1):c.-245T>C |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV001099838] |
Chr1:32817489 [GRCh38]
Chr1:33283090 [GRCh37]
Chr1:1p35.1 |
benign |
| NM_003680.4(YARS1):c.177T>G (p.Ile59Met) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV001045821]|not provided [RCV001507949] |
Chr1:32810938 [GRCh38]
Chr1:33276539 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.1418A>G (p.Glu473Gly) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV001045871]|Inborn genetic diseases [RCV002553131] |
Chr1:32779440 [GRCh38]
Chr1:33245041 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NC_000001.11:g.(?_32775971)_(32797853_?)dup |
duplication |
Charcot-Marie-Tooth disease dominant intermediate C [RCV001031530] |
Chr1:33241572..33263454 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.3(YARS1):c.-623G>A |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV001101831]|not provided [RCV001571832] |
Chr1:32817867 [GRCh38]
Chr1:33283468 [GRCh37]
Chr1:1p35.1 |
benign|likely benign |
| NM_003680.4(YARS1):c.40A>T (p.Ile14Phe) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV001069984]|Inborn genetic diseases [RCV002462320]|not provided [RCV001579564] |
Chr1:32817205 [GRCh38]
Chr1:33282806 [GRCh37]
Chr1:1p35.1 |
likely benign|uncertain significance |
| NM_003680.4(YARS1):c.380+211A>G |
single nucleotide variant |
not provided [RCV001679942] |
Chr1:32810380 [GRCh38]
Chr1:33275981 [GRCh37]
Chr1:1p35.1 |
benign |
| NM_003680.4(YARS1):c.827T>A (p.Val276Glu) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV001050525] |
Chr1:32786441 [GRCh38]
Chr1:33252042 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.*106C>T |
single nucleotide variant |
not provided [RCV001566035] |
Chr1:32775875 [GRCh38]
Chr1:33241476 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.57+174C>T |
single nucleotide variant |
not provided [RCV001681541] |
Chr1:32817014 [GRCh38]
Chr1:33282615 [GRCh37]
Chr1:1p35.1 |
benign |
| NM_003680.4(YARS1):c.466G>T (p.Val156Leu) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV001096319] |
Chr1:32806526 [GRCh38]
Chr1:33272127 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.135G>A (p.Thr45=) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV001096320] |
Chr1:32810980 [GRCh38]
Chr1:33276581 [GRCh37]
Chr1:1p35.1 |
benign |
| NM_003680.3(YARS1):c.-188G>T |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV001098058] |
Chr1:32817432 [GRCh38]
Chr1:33283033 [GRCh37]
Chr1:1p35.1 |
benign |
| NM_003680.4(YARS1):c.425A>G (p.Gln142Arg) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV001206148] |
Chr1:32806567 [GRCh38]
Chr1:33272168 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.1014C>G (p.Ser338Arg) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV001206698] |
Chr1:32782432 [GRCh38]
Chr1:33248033 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.362C>G (p.Thr121Ser) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV001232835] |
Chr1:32810609 [GRCh38]
Chr1:33276210 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.1227C>A (p.Phe409Leu) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV001040685]|not provided [RCV004584847] |
Chr1:32780192 [GRCh38]
Chr1:33245793 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.3(YARS1):c.-157G>A |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV001098057] |
Chr1:32817401 [GRCh38]
Chr1:33283002 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.799G>C (p.Val267Leu) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV001214410] |
Chr1:32786961 [GRCh38]
Chr1:33252562 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.277C>T (p.Arg93Ter) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV001215474]|not provided [RCV003482344] |
Chr1:32810694 [GRCh38]
Chr1:33276295 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.709C>T (p.Arg237Trp) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV003507381]|not provided [RCV001663458] |
Chr1:32787051 [GRCh38]
Chr1:33252652 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.806T>C (p.Phe269Ser) |
single nucleotide variant |
Corpus callosum, agenesis of [RCV001291417]|Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2 [RCV001533214] |
Chr1:32786954 [GRCh38]
Chr1:33252555 [GRCh37]
Chr1:1p35.1 |
pathogenic|likely pathogenic |
| NM_003680.4(YARS1):c.1373C>T (p.Pro458Leu) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV001262280] |
Chr1:32779485 [GRCh38]
Chr1:33245086 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.611A>C (p.Tyr204Ser) |
single nucleotide variant |
Global developmental delay [RCV001267842]|Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2 [RCV001533216] |
Chr1:32791235 [GRCh38]
Chr1:33256836 [GRCh37]
Chr1:1p35.1 |
pathogenic|uncertain significance |
| NM_003680.4(YARS1):c.1140+6C>T |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV001326744] |
Chr1:32781042 [GRCh38]
Chr1:33246643 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.190A>C (p.Lys64Gln) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV001305122]|not provided [RCV001288156] |
Chr1:32810925 [GRCh38]
Chr1:33276526 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.17G>A (p.Ser6Asn) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV001305756] |
Chr1:32817228 [GRCh38]
Chr1:33282829 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NC_000001.10:g.(?_33241563)_(46663513_?)dup |
duplication |
Charcot-Marie-Tooth disease, dominant intermediate C [RCV001308684] |
Chr1:33241563..46663513 [GRCh37]
Chr1:1p35.1-34.1 |
uncertain significance |
| NM_003680.4(YARS1):c.857A>G (p.Asn286Ser) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV001295676] |
Chr1:32786411 [GRCh38]
Chr1:33252012 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.560A>G (p.Asp187Gly) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV001296662] |
Chr1:32797794 [GRCh38]
Chr1:33263395 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.488G>T (p.Gly163Val) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV001342998] |
Chr1:32806504 [GRCh38]
Chr1:33272105 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.1383_1392del (p.Ala462fs) |
deletion |
Charcot-Marie-Tooth disease dominant intermediate C [RCV001313230] |
Chr1:32779466..32779475 [GRCh38]
Chr1:33245067..33245076 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.602C>G (p.Ala201Gly) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV001312709] |
Chr1:32791244 [GRCh38]
Chr1:33256845 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.602C>T (p.Ala201Val) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV001321000] |
Chr1:32791244 [GRCh38]
Chr1:33256845 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.1276del (p.Asn425_Leu426insTer) |
deletion |
Charcot-Marie-Tooth disease dominant intermediate C [RCV001350368]|Inborn genetic diseases [RCV004036621] |
Chr1:32780143 [GRCh38]
Chr1:33245744 [GRCh37]
Chr1:1p35.1 |
pathogenic|uncertain significance |
| NM_003680.4(YARS1):c.1584C>G (p.Ser528Arg) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV001361820] |
Chr1:32775984 [GRCh38]
Chr1:33241585 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.1042+6G>A |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV001316432] |
Chr1:32782398 [GRCh38]
Chr1:33247999 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.662G>A (p.Ser221Asn) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV001307518] |
Chr1:32791184 [GRCh38]
Chr1:33256785 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.700C>G (p.Leu234Val) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV001337315] |
Chr1:32787060 [GRCh38]
Chr1:33252661 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NC_000001.10:g.(?_33241572)_(33263454_?)dup |
duplication |
Charcot-Marie-Tooth disease, dominant intermediate C [RCV001323029] |
Chr1:33241572..33263454 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.1005del (p.Lys335fs) |
deletion |
Charcot-Marie-Tooth disease dominant intermediate C [RCV001322428] |
Chr1:32782441 [GRCh38]
Chr1:33248042 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.689C>A (p.Ser230Tyr) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV001350811] |
Chr1:32787071 [GRCh38]
Chr1:33252672 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.1181T>G (p.Val394Gly) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV001370457] |
Chr1:32780238 [GRCh38]
Chr1:33245839 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.1387C>G (p.Pro463Ala) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV001366859] |
Chr1:32779471 [GRCh38]
Chr1:33245072 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.799G>A (p.Val267Ile) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV001307206] |
Chr1:32786961 [GRCh38]
Chr1:33252562 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.1159C>T (p.Leu387=) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV001494255] |
Chr1:32780260 [GRCh38]
Chr1:33245861 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.1095A>G (p.Pro365=) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV001496342] |
Chr1:32781093 [GRCh38]
Chr1:33246694 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.1335-4C>G |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV001463637] |
Chr1:32779527 [GRCh38]
Chr1:33245128 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.231C>T (p.His77=) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV001493416] |
Chr1:32810740 [GRCh38]
Chr1:33276341 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.821-7C>T |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV001485040]|YARS1-related disorder [RCV003938868] |
Chr1:32786454 [GRCh38]
Chr1:33252055 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.213T>A (p.Ile71=) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV001446068] |
Chr1:32810758 [GRCh38]
Chr1:33276359 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.1506C>T (p.Ile502=) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV001441298]|not provided [RCV004711628] |
Chr1:32776062 [GRCh38]
Chr1:33241663 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.684+10C>T |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV001407683] |
Chr1:32791152 [GRCh38]
Chr1:33256753 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.45C>T (p.Thr15=) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV001426045]|not provided [RCV003320836] |
Chr1:32817200 [GRCh38]
Chr1:33282801 [GRCh37]
Chr1:1p35.1 |
likely benign|uncertain significance |
| NM_003680.4(YARS1):c.432T>C (p.Asp144=) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV001434546] |
Chr1:32806560 [GRCh38]
Chr1:33272161 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.477T>C (p.Pro159=) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV001432208] |
Chr1:32806515 [GRCh38]
Chr1:33272116 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.675T>A (p.Ser225=) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV001402980] |
Chr1:32791171 [GRCh38]
Chr1:33256772 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.363T>C (p.Thr121=) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV001440760] |
Chr1:32810608 [GRCh38]
Chr1:33276209 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.1476+304G>C |
single nucleotide variant |
not provided [RCV001709474] |
Chr1:32779078 [GRCh38]
Chr1:33244679 [GRCh37]
Chr1:1p35.1 |
benign |
| NM_003680.4(YARS1):c.468G>T (p.Val156=) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV001497010] |
Chr1:32806524 [GRCh38]
Chr1:33272125 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.1143C>T (p.His381=) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV001462519] |
Chr1:32780276 [GRCh38]
Chr1:33245877 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.58-7A>T |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV001451057] |
Chr1:32811064 [GRCh38]
Chr1:33276665 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.1494T>C (p.Ser498=) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV001502261] |
Chr1:32776074 [GRCh38]
Chr1:33241675 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.1263G>T (p.Val421=) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV001487490] |
Chr1:32780156 [GRCh38]
Chr1:33245757 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.870A>C (p.Thr290=) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV001476242] |
Chr1:32786398 [GRCh38]
Chr1:33251999 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.381-11_381-7del |
microsatellite |
Charcot-Marie-Tooth disease dominant intermediate C [RCV001455838] |
Chr1:32806618..32806622 [GRCh38]
Chr1:33272219..33272223 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.102G>A (p.Arg34=) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV001443627]|YARS1-related disorder [RCV003973300] |
Chr1:32811013 [GRCh38]
Chr1:33276614 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.807T>C (p.Phe269=) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV001418382] |
Chr1:32786953 [GRCh38]
Chr1:33252554 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.303C>T (p.Ile101=) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV001393989] |
Chr1:32810668 [GRCh38]
Chr1:33276269 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.1575G>A (p.Gly525=) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV001479490] |
Chr1:32775993 [GRCh38]
Chr1:33241594 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NC_000001.10:g.(?_33276172)_(33276678_?)del |
deletion |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002239600] |
Chr1:33276172..33276678 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NC_000001.10:g.(?_33276172)_(33282845_?)dup |
duplication |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002239601] |
Chr1:33276172..33282845 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.1448C>T (p.Pro483Leu) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002239631]|Inborn genetic diseases [RCV002463141] |
Chr1:32779410 [GRCh38]
Chr1:33245011 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.1334+18G>A |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002239634] |
Chr1:32780067 [GRCh38]
Chr1:33245668 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.1141-8C>T |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002239635] |
Chr1:32780286 [GRCh38]
Chr1:33245887 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.1140+18C>T |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002239638] |
Chr1:32781030 [GRCh38]
Chr1:33246631 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.820+19T>G |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002239639] |
Chr1:32786921 [GRCh38]
Chr1:33252522 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.501C>T (p.Pro167=) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002239645] |
Chr1:32806491 [GRCh38]
Chr1:33272092 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.501C>G (p.Pro167=) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002239646] |
Chr1:32806491 [GRCh38]
Chr1:33272092 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.194_202del (p.Ala65_Cys67del) |
deletion |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002239647] |
Chr1:32810913..32810921 [GRCh38]
Chr1:33276514..33276522 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.126G>A (p.Thr42=) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002239648] |
Chr1:32810989 [GRCh38]
Chr1:33276590 [GRCh37]
Chr1:1p35.1 |
likely benign|uncertain significance |
| NM_003680.4(YARS1):c.92T>C (p.Leu31Pro) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002239649] |
Chr1:32811023 [GRCh38]
Chr1:33276624 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.1207G>A (p.Val403Met) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002239051]|not provided [RCV003329436] |
Chr1:32780212 [GRCh38]
Chr1:33245813 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.906+9A>G |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002239062] |
Chr1:32786353 [GRCh38]
Chr1:33251954 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.858C>T (p.Asn286=) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002239063] |
Chr1:32786410 [GRCh38]
Chr1:33252011 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.685-18C>G |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002239070] |
Chr1:32787093 [GRCh38]
Chr1:33252694 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.644T>C (p.Val215Ala) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002239071] |
Chr1:32791202 [GRCh38]
Chr1:33256803 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.620G>A (p.Arg207Gln) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002239074]|Inborn genetic diseases [RCV002463143] |
Chr1:32791226 [GRCh38]
Chr1:33256827 [GRCh37]
Chr1:1p35.1 |
likely pathogenic|uncertain significance |
| NM_003680.4(YARS1):c.492C>T (p.Leu164=) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002239076] |
Chr1:32806500 [GRCh38]
Chr1:33272101 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.451G>A (p.Glu151Lys) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002239077]|Inborn genetic diseases [RCV004686725] |
Chr1:32806541 [GRCh38]
Chr1:33272142 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.395A>T (p.Asp132Val) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002239078] |
Chr1:32806597 [GRCh38]
Chr1:33272198 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.380+13T>C |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002239079] |
Chr1:32810578 [GRCh38]
Chr1:33276179 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.326G>A (p.Gly109Asp) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002239080] |
Chr1:32810645 [GRCh38]
Chr1:33276246 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.265C>T (p.Leu89Phe) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002239081] |
Chr1:32810706 [GRCh38]
Chr1:33276307 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.240G>A (p.Leu80=) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002239082] |
Chr1:32810731 [GRCh38]
Chr1:33276332 [GRCh37]
Chr1:1p35.1 |
likely benign|uncertain significance |
| NM_003680.4(YARS1):c.204+16A>G |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002239083] |
Chr1:32810895 [GRCh38]
Chr1:33276496 [GRCh37]
Chr1:1p35.1 |
likely benign|uncertain significance |
| NM_003680.4(YARS1):c.42C>T (p.Ile14=) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002239089] |
Chr1:32817203 [GRCh38]
Chr1:33282804 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.316G>A (p.Glu106Lys) |
single nucleotide variant |
not provided [RCV001755581] |
Chr1:32810655 [GRCh38]
Chr1:33276256 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.978A>C (p.Glu326Asp) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002271981] |
Chr1:32782468 [GRCh38]
Chr1:33248069 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NC_000001.10:g.(?_33251953)_(33252686_?)del |
deletion |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002238929] |
Chr1:33251953..33252686 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.1577A>T (p.Asn526Ile) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002239036] |
Chr1:32775991 [GRCh38]
Chr1:33241592 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.1571G>T (p.Gly524Val) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002239037] |
Chr1:32775997 [GRCh38]
Chr1:33241598 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.1503C>T (p.Cys501=) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002239038] |
Chr1:32776065 [GRCh38]
Chr1:33241666 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.1480G>A (p.Asp494Asn) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002239039] |
Chr1:32776088 [GRCh38]
Chr1:33241689 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.1334+17A>C |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002239040] |
Chr1:32780068 [GRCh38]
Chr1:33245669 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.1333A>G (p.Ile445Val) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002239041]|Inborn genetic diseases [RCV002463142]|YARS1-related disorder [RCV003973354] |
Chr1:32780086 [GRCh38]
Chr1:33245687 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.1330T>G (p.Ser444Ala) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002239042] |
Chr1:32780089 [GRCh38]
Chr1:33245690 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.1303G>A (p.Glu435Lys) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002239043] |
Chr1:32780116 [GRCh38]
Chr1:33245717 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.1298G>T (p.Gly433Val) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002239044] |
Chr1:32780121 [GRCh38]
Chr1:33245722 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.1266G>T (p.Val422=) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002239045] |
Chr1:32780153 [GRCh38]
Chr1:33245754 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.1257G>A (p.Leu419=) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002239046] |
Chr1:32780162 [GRCh38]
Chr1:33245763 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.1252A>G (p.Arg418Gly) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002239047] |
Chr1:32780167 [GRCh38]
Chr1:33245768 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.1245G>A (p.Leu415=) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002239048] |
Chr1:32780174 [GRCh38]
Chr1:33245775 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.1243C>A (p.Leu415Met) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002239049] |
Chr1:32780176 [GRCh38]
Chr1:33245777 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.1218G>A (p.Leu406=) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002239050] |
Chr1:32780201 [GRCh38]
Chr1:33245802 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.1197A>G (p.Pro399=) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002239052] |
Chr1:32780222 [GRCh38]
Chr1:33245823 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.1059C>T (p.Gly353=) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002239053] |
Chr1:32781129 [GRCh38]
Chr1:33246730 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.1043-17G>A |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002239054] |
Chr1:32781162 [GRCh38]
Chr1:33246763 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.1042A>G (p.Lys348Glu) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002239055] |
Chr1:32782404 [GRCh38]
Chr1:33248005 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.1005_1006insT (p.Leu336fs) |
insertion |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002239056] |
Chr1:32782440..32782441 [GRCh38]
Chr1:33248041..33248042 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.1002A>G (p.Lys334=) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002239057] |
Chr1:32782444 [GRCh38]
Chr1:33248045 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.989C>A (p.Thr330Asn) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002239058] |
Chr1:32782457 [GRCh38]
Chr1:33248058 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.930G>A (p.Lys310=) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002239059] |
Chr1:32782516 [GRCh38]
Chr1:33248117 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.922G>T (p.Asp308Tyr) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002239060] |
Chr1:32782524 [GRCh38]
Chr1:33248125 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.910G>T (p.Val304Leu) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002239061] |
Chr1:32782536 [GRCh38]
Chr1:33248137 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.835C>T (p.Arg279Ter) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002239064]|Inborn genetic diseases [RCV004047354] |
Chr1:32786433 [GRCh38]
Chr1:33252034 [GRCh37]
Chr1:1p35.1 |
pathogenic|uncertain significance |
| NM_003680.4(YARS1):c.830T>G (p.Ile277Ser) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002239065] |
Chr1:32786438 [GRCh38]
Chr1:33252039 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.820G>A (p.Glu274Lys) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002239066] |
Chr1:32786940 [GRCh38]
Chr1:33252541 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.736A>T (p.Lys246Ter) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002239067] |
Chr1:32787024 [GRCh38]
Chr1:33252625 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.692A>C (p.Lys231Thr) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002239068] |
Chr1:32787068 [GRCh38]
Chr1:33252669 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.685-13dup |
duplication |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002239069] |
Chr1:32787087..32787088 [GRCh38]
Chr1:33252688..33252689 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.642G>A (p.Met214Ile) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002239072] |
Chr1:32791204 [GRCh38]
Chr1:33256805 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.621G>C (p.Arg207=) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002239073] |
Chr1:32791225 [GRCh38]
Chr1:33256826 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.592-6T>A |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002239075] |
Chr1:32791260 [GRCh38]
Chr1:33256861 [GRCh37]
Chr1:1p35.1 |
likely benign|uncertain significance |
| NM_003680.4(YARS1):c.58-5A>C |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002239084] |
Chr1:32811062 [GRCh38]
Chr1:33276663 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.57+10G>A |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002239085] |
Chr1:32817178 [GRCh38]
Chr1:33282779 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.57+4A>T |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002239086] |
Chr1:32817184 [GRCh38]
Chr1:33282785 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.57+1G>A |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002239087] |
Chr1:32817187 [GRCh38]
Chr1:33282788 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.44C>A (p.Thr15Asn) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002239088] |
Chr1:32817201 [GRCh38]
Chr1:33282802 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.1415A>G (p.Tyr472Cys) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002239632] |
Chr1:32779443 [GRCh38]
Chr1:33245044 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.1407G>A (p.Val469=) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002239633] |
Chr1:32779451 [GRCh38]
Chr1:33245052 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.1141-13C>T |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002239636] |
Chr1:32780291 [GRCh38]
Chr1:33245892 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.1141-19T>C |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002239637] |
Chr1:32780297 [GRCh38]
Chr1:33245898 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.820+11C>T |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002239640] |
Chr1:32786929 [GRCh38]
Chr1:33252530 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.820+9C>T |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002239641] |
Chr1:32786931 [GRCh38]
Chr1:33252532 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.591+3G>C |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002239642] |
Chr1:32797760 [GRCh38]
Chr1:33263361 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.587A>G (p.Glu196Gly) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002239643]|Inborn genetic diseases [RCV002463144] |
Chr1:32797767 [GRCh38]
Chr1:33263368 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.511-18A>G |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002239644] |
Chr1:32797861 [GRCh38]
Chr1:33263462 [GRCh37]
Chr1:1p35.1 |
likely benign|uncertain significance |
| NM_003680.4(YARS1):c.323T>C (p.Ile108Thr) |
single nucleotide variant |
not provided [RCV001759009] |
Chr1:32810648 [GRCh38]
Chr1:33276249 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.977A>G (p.Glu326Gly) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV003615879]|not provided [RCV001786559] |
Chr1:32782469 [GRCh38]
Chr1:33248070 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.310A>G (p.Met104Val) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV003772128]|not provided [RCV001777072] |
Chr1:32810661 [GRCh38]
Chr1:33276262 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.821-1G>C |
single nucleotide variant |
not provided [RCV001755399] |
Chr1:32786448 [GRCh38]
Chr1:33252049 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.58-2A>G |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV003772125]|not provided [RCV001777019] |
Chr1:32811059 [GRCh38]
Chr1:33276660 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.1190C>G (p.Ala397Gly) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002226936] |
Chr1:32780229 [GRCh38]
Chr1:33245830 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NC_000001.10:g.(?_33247985)_(33248160_?)del |
deletion |
Charcot-Marie-Tooth disease dominant intermediate C [RCV003113303] |
Chr1:33247985..33248160 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NC_000001.10:g.(?_33256743)_(33272232_?)del |
deletion |
Charcot-Marie-Tooth disease dominant intermediate C [RCV003113304] |
Chr1:33256743..33272232 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NC_000001.10:g.(?_33246629)_(33248160_?)del |
deletion |
Charcot-Marie-Tooth disease dominant intermediate C [RCV003113305] |
Chr1:33246629..33248160 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.973C>T (p.Arg325Trp) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV003112629] |
Chr1:32782473 [GRCh38]
Chr1:33248074 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.462G>A (p.Lys154=) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV003118157] |
Chr1:32806530 [GRCh38]
Chr1:33272131 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.511-3C>G |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV003121492] |
Chr1:32797846 [GRCh38]
Chr1:33263447 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.55C>A (p.Gln19Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV003276030] |
Chr1:32817190 [GRCh38]
Chr1:33282791 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.1034C>T (p.Ser345Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002463180]|not specified [RCV002248943] |
Chr1:32782412 [GRCh38]
Chr1:33248013 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.746_748del (p.Phe249del) |
deletion |
not provided [RCV002259518] |
Chr1:32787012..32787014 [GRCh38]
Chr1:33252613..33252615 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.485G>C (p.Ser162Thr) |
single nucleotide variant |
Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset [RCV002274457] |
Chr1:32806507 [GRCh38]
Chr1:33272108 [GRCh37]
Chr1:1p35.1 |
likely pathogenic |
| NM_003680.4(YARS1):c.290A>G (p.Tyr97Cys) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV003096170]|Neurodevelopmental delay [RCV002274437] |
Chr1:32810681 [GRCh38]
Chr1:33276282 [GRCh37]
Chr1:1p35.1 |
likely pathogenic|uncertain significance |
| NM_003680.4(YARS1):c.371A>C (p.Gln124Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV003355842]|not provided [RCV002274618] |
Chr1:32810600 [GRCh38]
Chr1:33276201 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.46C>T (p.Arg16Trp) |
single nucleotide variant |
Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset [RCV002274456] |
Chr1:32817199 [GRCh38]
Chr1:33282800 [GRCh37]
Chr1:1p35.1 |
likely pathogenic |
| NM_003680.4(YARS1):c.1112G>A (p.Arg371His) |
single nucleotide variant |
Inborn genetic diseases [RCV002460806] |
Chr1:32781076 [GRCh38]
Chr1:33246677 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.1318C>T (p.Leu440Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002460807] |
Chr1:32780101 [GRCh38]
Chr1:33245702 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.278G>A (p.Arg93Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002460848] |
Chr1:32810693 [GRCh38]
Chr1:33276294 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.510+2_510+10del |
deletion |
not provided [RCV002474283] |
Chr1:32806472..32806480 [GRCh38]
Chr1:33272073..33272081 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.732dup (p.Leu245fs) |
duplication |
not provided [RCV002474284] |
Chr1:32787027..32787028 [GRCh38]
Chr1:33252628..33252629 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.214C>A (p.Leu72Met) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV003507466]|not provided [RCV002467287] |
Chr1:32810757 [GRCh38]
Chr1:33276358 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.125C>T (p.Thr42Met) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV003103080]|Inborn genetic diseases [RCV002460722] |
Chr1:32810990 [GRCh38]
Chr1:33276591 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.1330_1332del (p.Ser444del) |
deletion |
Inborn genetic diseases [RCV002460730] |
Chr1:32780087..32780089 [GRCh38]
Chr1:33245688..33245690 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.1421A>G (p.Lys474Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002460411] |
Chr1:32779437 [GRCh38]
Chr1:33245038 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.457G>A (p.Val153Ile) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV003507465]|Inborn genetic diseases [RCV002460428] |
Chr1:32806535 [GRCh38]
Chr1:33272136 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.256C>T (p.Pro86Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002460504] |
Chr1:32810715 [GRCh38]
Chr1:33276316 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.58G>C (p.Glu20Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002460565] |
Chr1:32811057 [GRCh38]
Chr1:33276658 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.778G>C (p.Val260Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002463219] |
Chr1:32786982 [GRCh38]
Chr1:33252583 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.1435GAG[1] (p.Glu480del) |
microsatellite |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002972175]|Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2 [RCV004587401] |
Chr1:32779418..32779420 [GRCh38]
Chr1:33245019..33245021 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.1396C>G (p.His466Asp) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV003012591] |
Chr1:32779462 [GRCh38]
Chr1:33245063 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.1150G>A (p.Ala384Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002902420] |
Chr1:32780269 [GRCh38]
Chr1:33245870 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.1385C>G (p.Ala462Gly) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002881878] |
Chr1:32779473 [GRCh38]
Chr1:33245074 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.1400T>G (p.Val467Gly) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002756360] |
Chr1:32779458 [GRCh38]
Chr1:33245059 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.1337A>T (p.Glu446Val) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002881693] |
Chr1:32779521 [GRCh38]
Chr1:33245122 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.511-16G>A |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002820089] |
Chr1:32797859 [GRCh38]
Chr1:33263460 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.1328C>A (p.Ala443Asp) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV003015207] |
Chr1:32780091 [GRCh38]
Chr1:33245692 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.331C>T (p.Pro111Ser) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV003013893] |
Chr1:32810640 [GRCh38]
Chr1:33276241 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.986_988dup (p.Asn329_Thr330insAsn) |
duplication |
Inborn genetic diseases [RCV002461418]|not provided [RCV003443061] |
Chr1:32782457..32782458 [GRCh38]
Chr1:33248058..33248059 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.713A>G (p.Lys238Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002461435] |
Chr1:32787047 [GRCh38]
Chr1:33252648 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.978A>G (p.Glu326=) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002730097] |
Chr1:32782468 [GRCh38]
Chr1:33248069 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.330G>A (p.Val110=) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002991690] |
Chr1:32810641 [GRCh38]
Chr1:33276242 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.815A>G (p.Lys272Arg) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002774925] |
Chr1:32786945 [GRCh38]
Chr1:33252546 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.929A>G (p.Lys310Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002461381] |
Chr1:32782517 [GRCh38]
Chr1:33248118 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.893A>G (p.Asp298Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002461595] |
Chr1:32786375 [GRCh38]
Chr1:33251976 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.737A>G (p.Lys246Arg) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002995944] |
Chr1:32787023 [GRCh38]
Chr1:33252624 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.1042+20G>A |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV003081528]|not provided [RCV003111624] |
Chr1:32782384 [GRCh38]
Chr1:33247985 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.248T>C (p.Met83Thr) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV003035595] |
Chr1:32810723 [GRCh38]
Chr1:33276324 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.990C>A (p.Thr330=) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002705661] |
Chr1:32782456 [GRCh38]
Chr1:33248057 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.416T>C (p.Val139Ala) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV003035414] |
Chr1:32806576 [GRCh38]
Chr1:33272177 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.54G>T (p.Leu18=) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV003021549] |
Chr1:32817191 [GRCh38]
Chr1:33282792 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.1222C>T (p.Gln408Ter) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002592734] |
Chr1:32780197 [GRCh38]
Chr1:33245798 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.437A>G (p.Lys146Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002887090] |
Chr1:32806555 [GRCh38]
Chr1:33272156 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.833T>C (p.Leu278Pro) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002948369] |
Chr1:32786435 [GRCh38]
Chr1:33252036 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.727A>G (p.Lys243Glu) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002821006] |
Chr1:32787033 [GRCh38]
Chr1:33252634 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.591+20T>C |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV003037178] |
Chr1:32797743 [GRCh38]
Chr1:33263344 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.167T>C (p.Met56Thr) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV003507470]|Inborn genetic diseases [RCV002925433] |
Chr1:32810948 [GRCh38]
Chr1:33276549 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.564G>C (p.Gln188His) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV003108188]|Inborn genetic diseases [RCV002868961] |
Chr1:32797790 [GRCh38]
Chr1:33263391 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.386A>G (p.Tyr129Cys) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002867933] |
Chr1:32806606 [GRCh38]
Chr1:33272207 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.715G>A (p.Glu239Lys) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV003077274] |
Chr1:32787045 [GRCh38]
Chr1:33252646 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.58-4A>G |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002766815] |
Chr1:32811061 [GRCh38]
Chr1:33276662 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.1353G>C (p.Gln451His) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV003026112] |
Chr1:32779505 [GRCh38]
Chr1:33245106 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.945C>T (p.Val315=) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002790988] |
Chr1:32782501 [GRCh38]
Chr1:33248102 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.1312G>T (p.Gly438Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002874016] |
Chr1:32780107 [GRCh38]
Chr1:33245708 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.1141-16C>T |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002623374] |
Chr1:32780294 [GRCh38]
Chr1:33245895 [GRCh37]
Chr1:1p35.1 |
benign |
| NM_003680.4(YARS1):c.1333A>T (p.Ile445Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002763407] |
Chr1:32780086 [GRCh38]
Chr1:33245687 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.1579A>G (p.Ile527Val) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV003082293] |
Chr1:32775989 [GRCh38]
Chr1:33241590 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.604C>T (p.Leu202Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002767997] |
Chr1:32791242 [GRCh38]
Chr1:33256843 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.1195C>T (p.Pro399Ser) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002876573] |
Chr1:32780224 [GRCh38]
Chr1:33245825 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.839A>G (p.Asp280Gly) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002766280] |
Chr1:32786429 [GRCh38]
Chr1:33252030 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.205-16C>T |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002700907] |
Chr1:32810782 [GRCh38]
Chr1:33276383 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.718_726del (p.Asp240_Lys242del) |
deletion |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002957838] |
Chr1:32787034..32787042 [GRCh38]
Chr1:33252635..33252643 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.205-18C>T |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002666895] |
Chr1:32810784 [GRCh38]
Chr1:33276385 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.205-17C>T |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV003083233] |
Chr1:32810783 [GRCh38]
Chr1:33276384 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.773A>G (p.Asn258Ser) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV003615926]|Inborn genetic diseases [RCV002709119] |
Chr1:32786987 [GRCh38]
Chr1:33252588 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.1443C>G (p.Leu481=) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002766338] |
Chr1:32779415 [GRCh38]
Chr1:33245016 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.1476+20C>T |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002599967] |
Chr1:32779362 [GRCh38]
Chr1:33244963 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.1140+13C>G |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002833786] |
Chr1:32781035 [GRCh38]
Chr1:33246636 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.1477-22CT[2] |
microsatellite |
Charcot-Marie-Tooth disease dominant intermediate C [RCV003091945] |
Chr1:32776108..32776109 [GRCh38]
Chr1:33241709..33241710 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.622G>A (p.Val208Ile) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002857482] |
Chr1:32791224 [GRCh38]
Chr1:33256825 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.294G>A (p.Glu98=) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV003048892] |
Chr1:32810677 [GRCh38]
Chr1:33276278 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.271G>C (p.Glu91Gln) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002599966] |
Chr1:32810700 [GRCh38]
Chr1:33276301 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.381-11T>A |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002770450] |
Chr1:32806622 [GRCh38]
Chr1:33272223 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.1122A>G (p.Lys374=) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002791689] |
Chr1:32781066 [GRCh38]
Chr1:33246667 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.1563G>A (p.Ser521=) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV003091245] |
Chr1:32776005 [GRCh38]
Chr1:33241606 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.836G>A (p.Arg279Gln) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV003091246] |
Chr1:32786432 [GRCh38]
Chr1:33252033 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.986A>G (p.Asn329Ser) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002577681] |
Chr1:32782460 [GRCh38]
Chr1:33248061 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.57+1G>T |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV003064218] |
Chr1:32817187 [GRCh38]
Chr1:33282788 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.1224G>A (p.Gln408=) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002647086] |
Chr1:32780195 [GRCh38]
Chr1:33245796 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.466G>A (p.Val156Met) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002810880] |
Chr1:32806526 [GRCh38]
Chr1:33272127 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.1349G>T (p.Arg450Leu) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV003090882] |
Chr1:32779509 [GRCh38]
Chr1:33245110 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.205-11C>T |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV003091544] |
Chr1:32810777 [GRCh38]
Chr1:33276378 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.1033T>G (p.Ser345Ala) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002676429] |
Chr1:32782413 [GRCh38]
Chr1:33248014 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.64C>T (p.Leu22=) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002653672] |
Chr1:32811051 [GRCh38]
Chr1:33276652 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.1078C>G (p.Pro360Ala) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV003050886]|Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2 [RCV003988885] |
Chr1:32781110 [GRCh38]
Chr1:33246711 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.204+16A>C |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002654192] |
Chr1:32810895 [GRCh38]
Chr1:33276496 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.670A>G (p.Ser224Gly) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV003068662] |
Chr1:32791176 [GRCh38]
Chr1:33256777 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.1043-19G>A |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV003067313] |
Chr1:32781164 [GRCh38]
Chr1:33246765 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.101G>A (p.Arg34Gln) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002603040] |
Chr1:32811014 [GRCh38]
Chr1:33276615 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.907-7T>G |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV003069664] |
Chr1:32782546 [GRCh38]
Chr1:33248147 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.808C>G (p.Pro270Ala) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV003052130] |
Chr1:32786952 [GRCh38]
Chr1:33252553 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.591+17C>T |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002606288] |
Chr1:32797746 [GRCh38]
Chr1:33263347 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.1439A>G (p.Glu480Gly) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV003050014] |
Chr1:32779419 [GRCh38]
Chr1:33245020 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.1165G>A (p.Val389Ile) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV002654447] |
Chr1:32780254 [GRCh38]
Chr1:33245855 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.766G>A (p.Glu256Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV003186125] |
Chr1:32786994 [GRCh38]
Chr1:33252595 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.767A>G (p.Glu256Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV003186126] |
Chr1:32786993 [GRCh38]
Chr1:33252594 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.1279A>C (p.Lys427Gln) |
single nucleotide variant |
not provided [RCV003139383] |
Chr1:32780140 [GRCh38]
Chr1:33245741 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.971T>C (p.Ile324Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003364463] |
Chr1:32782475 [GRCh38]
Chr1:33248076 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.43A>G (p.Thr15Ala) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV003874703] |
Chr1:32817202 [GRCh38]
Chr1:33282803 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| GRCh37/hg19 1p35.1(chr1:33099109-33528691)x1 |
copy number loss |
not provided [RCV003483127] |
Chr1:33099109..33528691 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.640A>G (p.Met214Val) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV003615962]|Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2 [RCV003494504] |
Chr1:32791206 [GRCh38]
Chr1:33256807 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.1571G>A (p.Gly524Glu) |
single nucleotide variant |
not provided [RCV003482467] |
Chr1:32775997 [GRCh38]
Chr1:33241598 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3 |
copy number gain |
Trisomy 12p [RCV003447845] |
Chr1:99125..34026935 [GRCh38]
Chr1:1p36.33-35.1 |
pathogenic |
| NM_003680.4(YARS1):c.1157G>T (p.Ser386Ile) |
single nucleotide variant |
not provided [RCV003406289] |
Chr1:32780262 [GRCh38]
Chr1:33245863 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.652T>C (p.Leu218=) |
single nucleotide variant |
not provided [RCV003406290] |
Chr1:32791194 [GRCh38]
Chr1:33256795 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.1140+4C>G |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV003506885] |
Chr1:32781044 [GRCh38]
Chr1:33246645 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.244A>G (p.Asn82Asp) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV003506937] |
Chr1:32810727 [GRCh38]
Chr1:33276328 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.426G>A (p.Gln142=) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV003507214] |
Chr1:32806566 [GRCh38]
Chr1:33272167 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.820G>C (p.Glu274Gln) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV003508494] |
Chr1:32786940 [GRCh38]
Chr1:33252541 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.1324T>G (p.Cys442Gly) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV003508587] |
Chr1:32780095 [GRCh38]
Chr1:33245696 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.76A>G (p.Lys26Glu) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV003507925] |
Chr1:32811039 [GRCh38]
Chr1:33276640 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.906+12G>T |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV003508753] |
Chr1:32786350 [GRCh38]
Chr1:33251951 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.88A>T (p.Ile30Leu) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV003507993] |
Chr1:32811027 [GRCh38]
Chr1:33276628 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.57+10G>T |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV003507170] |
Chr1:32817178 [GRCh38]
Chr1:33282779 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.870A>G (p.Thr290=) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV003506775] |
Chr1:32786398 [GRCh38]
Chr1:33251999 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.1451A>G (p.Lys484Arg) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV003508509] |
Chr1:32779407 [GRCh38]
Chr1:33245008 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.1010C>G (p.Ala337Gly) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV003506921] |
Chr1:32782436 [GRCh38]
Chr1:33248037 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.140A>G (p.Lys47Arg) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV003877854] |
Chr1:32810975 [GRCh38]
Chr1:33276576 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.424C>T (p.Gln142Ter) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV003507173] |
Chr1:32806568 [GRCh38]
Chr1:33272169 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.233C>G (p.Ala78Gly) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV003825628] |
Chr1:32810738 [GRCh38]
Chr1:33276339 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.1507G>C (p.Ala503Pro) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV003507001] |
Chr1:32776061 [GRCh38]
Chr1:33241662 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.762T>C (p.Asn254=) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV003507561] |
Chr1:32786998 [GRCh38]
Chr1:33252599 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.907-11C>T |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV003876450] |
Chr1:32782550 [GRCh38]
Chr1:33248151 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.684+18A>G |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV003507667] |
Chr1:32791144 [GRCh38]
Chr1:33256745 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.802C>T (p.Leu268Phe) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV003508811] |
Chr1:32786958 [GRCh38]
Chr1:33252559 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.1185G>A (p.Gly395=) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV003508909] |
Chr1:32780234 [GRCh38]
Chr1:33245835 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.1190C>T (p.Ala397Val) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV003615593] |
Chr1:32780229 [GRCh38]
Chr1:33245830 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.1137G>A (p.Glu379=) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV003615604] |
Chr1:32781051 [GRCh38]
Chr1:33246652 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.689C>T (p.Ser230Phe) |
single nucleotide variant |
Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2 [RCV004586495] |
Chr1:32787071 [GRCh38]
Chr1:33252672 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.945C>A (p.Val315=) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV003616287] |
Chr1:32782501 [GRCh38]
Chr1:33248102 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.1124T>A (p.Ile375Asn) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV003616824] |
Chr1:32781064 [GRCh38]
Chr1:33246665 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.779T>C (p.Val260Ala) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV003615660] |
Chr1:32786981 [GRCh38]
Chr1:33252582 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.397G>A (p.Val133Met) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV003616038] |
Chr1:32806595 [GRCh38]
Chr1:33272196 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.592-11dup |
duplication |
Charcot-Marie-Tooth disease dominant intermediate C [RCV003616187] |
Chr1:32791264..32791265 [GRCh38]
Chr1:33256865..33256866 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.1086G>C (p.Glu362Asp) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV003616197] |
Chr1:32781102 [GRCh38]
Chr1:33246703 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.381-9C>T |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV003616224] |
Chr1:32806620 [GRCh38]
Chr1:33272221 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.138C>T (p.Gly46=) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV003615550] |
Chr1:32810977 [GRCh38]
Chr1:33276578 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.206dup (p.Thr70fs) |
duplication |
Charcot-Marie-Tooth disease dominant intermediate C [RCV003617172] |
Chr1:32810764..32810765 [GRCh38]
Chr1:33276365..33276366 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.970A>G (p.Ile324Val) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV003616039] |
Chr1:32782476 [GRCh38]
Chr1:33248077 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.380+13T>G |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV003616759] |
Chr1:32810578 [GRCh38]
Chr1:33276179 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.1182G>T (p.Val394=) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV003816634] |
Chr1:32780237 [GRCh38]
Chr1:33245838 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.414C>G (p.Ser138=) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV003617018] |
Chr1:32806578 [GRCh38]
Chr1:33272179 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.161T>C (p.Val54Ala) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV003616879] |
Chr1:32810954 [GRCh38]
Chr1:33276555 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.591+4_591+7del |
deletion |
Charcot-Marie-Tooth disease dominant intermediate C [RCV003617190] |
Chr1:32797756..32797759 [GRCh38]
Chr1:33263357..33263360 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.695T>C (p.Ile232Thr) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV003616181] |
Chr1:32787065 [GRCh38]
Chr1:33252666 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.749G>A (p.Cys250Tyr) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV003616205] |
Chr1:32787011 [GRCh38]
Chr1:33252612 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.1568A>G (p.Lys523Arg) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV003616332] |
Chr1:32776000 [GRCh38]
Chr1:33241601 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.801C>G (p.Val267=) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV003616385] |
Chr1:32786959 [GRCh38]
Chr1:33252560 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.510+12G>A |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV003616631] |
Chr1:32806470 [GRCh38]
Chr1:33272071 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.1476+17G>T |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV003616692] |
Chr1:32779365 [GRCh38]
Chr1:33244966 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.1523C>A (p.Thr508Asn) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV003616723] |
Chr1:32776045 [GRCh38]
Chr1:33241646 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.1255C>T (p.Leu419=) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV003616728]|YARS1-related disorder [RCV004758284] |
Chr1:32780164 [GRCh38]
Chr1:33245765 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.501del (p.Gly168fs) |
deletion |
Charcot-Marie-Tooth disease dominant intermediate C [RCV003615752] |
Chr1:32806491 [GRCh38]
Chr1:33272092 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.1523C>T (p.Thr508Ile) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV003617121]|not provided [RCV004691593] |
Chr1:32776045 [GRCh38]
Chr1:33241646 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.389C>T (p.Thr130Ile) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV003616517] |
Chr1:32806603 [GRCh38]
Chr1:33272204 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.992C>G (p.Pro331Arg) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV003616523] |
Chr1:32782454 [GRCh38]
Chr1:33248055 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.710G>A (p.Arg237Gln) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV003615627] |
Chr1:32787050 [GRCh38]
Chr1:33252651 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.1335-17G>C |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV003615596] |
Chr1:32779540 [GRCh38]
Chr1:33245141 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.749G>C (p.Cys250Ser) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV003615704] |
Chr1:32787011 [GRCh38]
Chr1:33252612 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.876C>T (p.Tyr292=) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV003617201] |
Chr1:32786392 [GRCh38]
Chr1:33251993 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.1118_1135dup (p.Val378_Glu379insGlyLysIleIleThrVal) |
duplication |
Charcot-Marie-Tooth disease dominant intermediate C [RCV003617232] |
Chr1:32781052..32781053 [GRCh38]
Chr1:33246653..33246654 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.204+12T>C |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV003616065] |
Chr1:32810899 [GRCh38]
Chr1:33276500 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.1249G>A (p.Asp417Asn) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV003845950] |
Chr1:32780170 [GRCh38]
Chr1:33245771 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.1204G>A (p.Val402Met) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV003843616] |
Chr1:32780215 [GRCh38]
Chr1:33245816 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.854del (p.Gly285fs) |
deletion |
Charcot-Marie-Tooth disease dominant intermediate C [RCV003866222] |
Chr1:32786414 [GRCh38]
Chr1:33252015 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.907-19G>A |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV003867470] |
Chr1:32782558 [GRCh38]
Chr1:33248159 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.1261G>A (p.Val421Met) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV003819324] |
Chr1:32780158 [GRCh38]
Chr1:33245759 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.1433A>T (p.Asp478Val) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV003818240] |
Chr1:32779425 [GRCh38]
Chr1:33245026 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.907-4G>A |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV003818610] |
Chr1:32782543 [GRCh38]
Chr1:33248144 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.1285C>T (p.Gln429Ter) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV003842720] |
Chr1:32780134 [GRCh38]
Chr1:33245735 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.642G>C (p.Met214Ile) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV003862208] |
Chr1:32791204 [GRCh38]
Chr1:33256805 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.159del (p.Phe53fs) |
deletion |
Inborn genetic diseases [RCV004485795] |
Chr1:32810956 [GRCh38]
Chr1:33276557 [GRCh37]
Chr1:1p35.1 |
pathogenic |
| NM_003680.4(YARS1):c.823T>C (p.Phe275Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004485796] |
Chr1:32786445 [GRCh38]
Chr1:33252046 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.761del (p.Asn254fs) |
deletion |
YARS1-related disorder [RCV003982574] |
Chr1:32786999 [GRCh38]
Chr1:33252600 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.940G>A (p.Glu314Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV004485797] |
Chr1:32782506 [GRCh38]
Chr1:33248107 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.258A>G (p.Pro86=) |
single nucleotide variant |
YARS1-related disorder [RCV003921493]|not specified [RCV004690496] |
Chr1:32810713 [GRCh38]
Chr1:33276314 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.1026A>G (p.Pro342=) |
single nucleotide variant |
YARS1-related disorder [RCV003934303] |
Chr1:32782420 [GRCh38]
Chr1:33248021 [GRCh37]
Chr1:1p35.1 |
likely benign |
| NM_003680.4(YARS1):c.471G>C (p.Glu157Asp) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate C [RCV004566655] |
Chr1:32806521 [GRCh38]
Chr1:33272122 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NC_000001.10:g.(?_33241582)_(33256875_?)del |
deletion |
Charcot-Marie-Tooth disease dominant intermediate C [RCV004584031] |
Chr1:33241582..33256875 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
| NM_003680.4(YARS1):c.188T>A (p.Leu63Ter) |
single nucleotide variant |
not provided [RCV004763809] |
|
uncertain significance |
| NM_003680.4(YARS1):c.809C>T (p.Pro270Leu) |
single nucleotide variant |
not provided [RCV004769206] |
Chr1:32786951 [GRCh38]
Chr1:33252552 [GRCh37]
Chr1:1p35.1 |
uncertain significance |
