| - GRCh37:
- Chr9:95015639
- GRCh38:
- Chr9:92253357
| IARS1 | | Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy | Uncertain significance
(May 2, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr9:95004608
- GRCh38:
- Chr9:92242326
| IARS1 | N1002S, N1009S, N1023S, N961S, N970S, N974S, N977S | Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy | Uncertain significance
(Jul 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:94984945
- GRCh38:
- Chr9:92222663
| IARS1 | M1140T, M1143T, M1147T, M1156T, M1160T, M1163T, M1168T, M1174T, M1188T, M1195T, M1209T | Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy, not provided | Uncertain significance
(Sep 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:95007339
- GRCh38:
- Chr9:92245057
| IARS1 | E895K, E904K, E908K, E911K, E936K, E943K, E957K | Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy | Uncertain significance
(May 25, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr9:94985637
- GRCh38:
- Chr9:92223355
| IARS1 | K1137E, K1141E, K1150E, K1154E, K1157E, K1162E, K1168E, K1182E, K1189E, K1203E | not provided, Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy | Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:95043108
- GRCh38:
- Chr9:92280826
| IARS1 | A181G, A243G, A222G | not provided, Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy | Uncertain significance
(Oct 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:95048878
- GRCh38:
- Chr9:92286596
| IARS1 | R140Q, R161Q, R99Q | Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy, not provided | Uncertain significance
(Nov 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:94984815
- GRCh38:
- Chr9:92222533
| IARS1 | E1199D, E1206D, E1211D, E1252D, E1231D, E1186D, E1217D, E1238D, E1183D, E1190D, E1203D | Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy | Uncertain significance
(May 21, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:95021222
- GRCh38:
- Chr9:92258940
| IARS1 | G603S, G616S, G644S, G651S, G665S | Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy | Uncertain significance
(May 4, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:95027811
- GRCh38:
- Chr9:92265529
| IARS1 | E507K, E445K, E486K, E493K | Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy | Uncertain significance
(Jun 28, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:94985724
- GRCh38:
- Chr9:92223442
| IARS1 | C1139R, C1125R, C1121R, C1153R, C1160R, C1112R, C1128R, C1174R | Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy, Inborn genetic diseases, not provided
| Uncertain significance
(May 2, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:95050403
- GRCh38:
- Chr9:92288121
| IARS1 | | Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy | Uncertain significance
(Jun 13, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr9:95050471
- GRCh38:
- Chr9:92288189
| IARS1 | Y71* | Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy | Pathogenic
(Apr 21, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr9:95019018
- GRCh38:
- Chr9:92256736
| IARS1 | R653Q, R701Q, R715Q, R694Q, R666Q | Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy | Uncertain significance
(May 5, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr9:95027380
- GRCh38:
- Chr9:92265098
| IARS1 | R470C, R511C, R532C, R518C | Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy | Uncertain significance
(May 25, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:95050173
- GRCh38:
- Chr9:92287891
| IARS1 | T58K, T99K, T120K | Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy | Uncertain significance
(Mar 29, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr9:95027289
- GRCh38:
- Chr9:92265007
| IARS1 | P500L, P541L, P548L, P562L | Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy | Uncertain significance
(Jan 2, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr9:95050458
- GRCh38:
- Chr9:92288176
| IARS1 | G76R | Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy | Uncertain significance
(Jan 2, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr9:95019064
- GRCh38:
- Chr9:92256782
| IARS1 | L679I, L651I | not provided, Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy | Conflicting interpretations of pathogenicity
(May 23, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:95030529
- GRCh38:
- Chr9:92268247
| IARS1 | R453H, R412H, R460H, R474H | Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy, not provided | Conflicting interpretations of pathogenicity
(Jun 3, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:95015658
- GRCh38:
- Chr9:92253376
| IARS1 | R739C, R746C, R698C, R711C, R760C | Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy | Pathogenic
(Aug 20, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr9:95027244
- GRCh38:
- Chr9:92264962
| IARS1 | F556S, F515S, F563S, F577S | Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy | Pathogenic
(Aug 20, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr9:95005524
- GRCh38:
- Chr9:92243242
| IARS1 | N992D, N960D, N999D, N951D, N1013D, N964D, N967D | Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy | Pathogenic
(Aug 20, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr9:95033819
- GRCh38:
- Chr9:92271537
| IARS1 | V370G, V377G, V391G, V329G | Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy | Pathogenic
(Aug 20, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr9:95040554
- GRCh38:
- Chr9:92278272
| IARS1 | R254*, R213*, R275* | Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy | Pathogenic
(Aug 20, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr9:95030577
- GRCh38:
- Chr9:92268295
| IARS1 | P437L, P444L, P396L, P458L | Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy | Pathogenic
(Aug 20, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr9:94985660
- GRCh38:
- Chr9:92223378
| IARS1 | I1174N, I1142N, I1154N, I1129N, I1160N, I1181N, I1195N, I1146N, I1149N, I1133N | Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy | Pathogenic
(Aug 20, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr9:95032219
- GRCh38:
- Chr9:92269937
| IARS1 | R418*, R377*, R425*, R439* | Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy | Pathogenic
(Aug 20, 2019) | no assertion criteria provided |