| - GRCh37:
- Chr8:116631448
- GRCh38:
- Chr8:115619221
| TRPS1 | Q280*, Q284*, Q286*, Q293* | Trichorhinophalangeal dysplasia type I | Pathogenic
(Jul 12, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr8:116616823
- GRCh38:
- Chr8:115604596
| TRPS1 | S445*, S449*, S451*, S458* | Trichorhinophalangeal dysplasia type I | Pathogenic
(Jul 17, 2023) | no assertion criteria provided |
| - GRCh37:
- Chr8:116599208-116635864
| TRPS1 | | Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I | Pathogenic
(Oct 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:116616412
- GRCh38:
- Chr8:115604185
| TRPS1 | T582I, T586I, T588I, T595I | Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I | Likely benign
(Oct 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:116426552
- GRCh38:
- Chr8:115414324
| TRPS1 | K1182R, K1186R, K1188R, K1195R | Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I | Uncertain significance
(Sep 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:116616165
- GRCh38:
- Chr8:115603938
| TRPS1-AS1, TRPS1 | K668N, K677N, K664N, K670N | Trichorhinophalangeal dysplasia type I | Uncertain significance
(Dec 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:116616109
- GRCh38:
- Chr8:115603882
| TRPS1 | R683Q, R689Q, R687Q, R696Q | Trichorhinophalangeal dysplasia type I, Trichorhinophalangeal syndrome, type III | Likely benign
(Feb 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:116427217
- GRCh38:
- Chr8:115414989
| TRPS1 | | Trichorhinophalangeal dysplasia type I, Trichorhinophalangeal syndrome, type III | Likely benign
(May 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:116599627
- GRCh38:
- Chr8:115587400
| TRPS1 | | Trichorhinophalangeal dysplasia type I, Trichorhinophalangeal syndrome, type III | Benign
(Feb 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:116616612
- GRCh38:
- Chr8:115604385
| TRPS1 | | Trichorhinophalangeal dysplasia type I, Trichorhinophalangeal syndrome, type III | Likely benign
(Sep 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:116616546
- GRCh38:
- Chr8:115604319
| TRPS1 | | Trichorhinophalangeal dysplasia type I, Trichorhinophalangeal syndrome, type III | Likely benign
(Jun 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:116430700
- GRCh38:
- Chr8:115418472
| TRPS1, LOC110120802 | | Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I | Likely benign
(Feb 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:116427206
- GRCh38:
- Chr8:115414978
| TRPS1 | N968S, N970S, N964S, N977S | Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I | Uncertain significance
(Dec 23, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr8:116635848
- GRCh38:
- Chr8:115623621
| TRPS1 | M4V, N6S | Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I | Uncertain significance
(Jan 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:116617112
- GRCh38:
- Chr8:115604885
| TRPS1 | E353K, E362K, E349K, E355K | Trichorhinophalangeal dysplasia type I, Trichorhinophalangeal syndrome, type III | Uncertain significance
(Feb 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:116616857
- GRCh38:
- Chr8:115604630
| TRPS1 | Y438H, Y440H, Y447H, Y434H | Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I | Uncertain significance
(Dec 16, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr8:116631739
- GRCh38:
- Chr8:115619512
| TRPS1 | A183T, A187T, A196T, A189T | Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I | Uncertain significance
(Sep 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:116616633-116616635
- GRCh38:
- Chr8:115604406-115604408
| TRPS1 | K508del, K512del, K514del, K521del | Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I | Uncertain significance
(May 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:116427330
- GRCh38:
- Chr8:115415102
| TRPS1 | | Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I | Likely benign
(Jun 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:116616090
- GRCh38:
- Chr8:115603863
| TRPS1 | | Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I | Likely benign
(Aug 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:116616609
- GRCh38:
- Chr8:115604382
| TRPS1 | | Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I | Benign
(Sep 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:116427241
- GRCh38:
- Chr8:115415013
| TRPS1 | | Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I | Likely benign
(May 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:116616232
- GRCh38:
- Chr8:115604005
| TRPS1 | S646L, S648L, S655L, S642L | Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I | Likely benign
(Aug 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:116616930
- GRCh38:
- Chr8:115604703
| TRPS1 | | Trichorhinophalangeal dysplasia type I, Trichorhinophalangeal syndrome, type III | Likely benign
(Mar 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:116599301
- GRCh38:
- Chr8:115587074
| TRPS1 | S863Y, S867Y, S876Y, S869Y | Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I | Uncertain significance
(Jun 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:116631590
- GRCh38:
- Chr8:115619363
| TRPS1 | | Trichorhinophalangeal dysplasia type I, Trichorhinophalangeal syndrome, type III | Likely benign
(Aug 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:116427318
- GRCh38:
- Chr8:115415090
| TRPS1 | | Trichorhinophalangeal dysplasia type I, Trichorhinophalangeal syndrome, type III | Likely benign
(Apr 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:116426412
- GRCh38:
- Chr8:115414184
| TRPS1 | M1233L, M1229L, M1242L, M1235L | Trichorhinophalangeal dysplasia type I, Trichorhinophalangeal syndrome, type III | Uncertain significance
(Oct 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:116599414
- GRCh38:
- Chr8:115587187
| TRPS1 | | Trichorhinophalangeal dysplasia type I, Trichorhinophalangeal syndrome, type III | Likely benign
(Oct 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:116599294
- GRCh38:
- Chr8:115587067
| TRPS1 | | Trichorhinophalangeal dysplasia type I, Trichorhinophalangeal syndrome, type III | Likely benign
(Apr 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:116426951
- GRCh38:
- Chr8:115414723
| TRPS1 | P1055L, P1062L, P1049L, P1053L | Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I | Uncertain significance
(Apr 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:116427194-116427195
- GRCh38:
- Chr8:115414966-115414967
| TRPS1 | R974fs, R981fs, R968fs, R972fs | Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I | Pathogenic
(May 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:116616533
- GRCh38:
- Chr8:115604306
| TRPS1 | V542L, V548L, V546L, V555L | Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I | Uncertain significance
(Mar 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:116426631
- GRCh38:
- Chr8:115414403
| TRPS1 | V1162F, V1160F, V1169F, V1156F | Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I | Uncertain significance
(Oct 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:116426949
- GRCh38:
- Chr8:115414721
| TRPS1 | G1054R, G1050R, G1063R, G1056R | Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I | Likely benign
(Mar 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:116635821
- GRCh38:
- Chr8:115623594
| TRPS1 | | Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I | Uncertain significance
(Oct 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:116617122
- GRCh38:
- Chr8:115604895
| TRPS1 | | Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I | Likely benign
(Oct 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:116617042
- GRCh38:
- Chr8:115604815
| TRPS1 | A372E, A376E, A378E, A385E | Trichorhinophalangeal dysplasia type I, Trichorhinophalangeal syndrome, type III | Uncertain significance
(Jan 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:116427287
- GRCh38:
- Chr8:115415059
| TRPS1 | K943R, K950R, K941R, K937R | Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I | Uncertain significance
(Jan 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:116616241
- GRCh38:
- Chr8:115604014
| TRPS1 | S652Y, S639Y, S643Y, S645Y | Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I | Uncertain significance
(Oct 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:116430646
- GRCh38:
- Chr8:115418418
| TRPS1 | C912F, C903F, C899F, C905F | Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I | Uncertain significance
(Feb 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:116616651
- GRCh38:
- Chr8:115604424
| TRPS1 | | Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I | Likely benign
(Oct 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:116427178
- GRCh38:
- Chr8:115414950
| TRPS1 | | Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I | Benign
(Aug 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:116617042
- GRCh38:
- Chr8:115604815
| TRPS1 | A372G, A376G, A378G, A385G | Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I | Likely benign
(Oct 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:116631899
- GRCh38:
- Chr8:115619672
| TRPS1 | | Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I | Likely benign
(Apr 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:116616542
- GRCh38:
- Chr8:115604315
| TRPS1 | D539H, D552H, D543H, D545H | Trichorhinophalangeal dysplasia type I, Trichorhinophalangeal syndrome, type III | Uncertain significance
(Jan 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:116426819
- GRCh38:
- Chr8:115414591
| TRPS1 | P1106Q, P1093Q, P1097Q, P1099Q | Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I | Uncertain significance
(Dec 22, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr8:116599396
- GRCh38:
- Chr8:115587169
| TRPS1 | N845fs, N832fs, N836fs, N838fs | Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I | Pathogenic
(Dec 19, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr8:116426433
- GRCh38:
- Chr8:115414205
| TRPS1 | I1222V, I1228V, I1226V, I1235V | Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I, Inborn genetic diseases
| Conflicting interpretations of pathogenicity
(Oct 16, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr8:116426576-116426577
- GRCh38:
- Chr8:115414348-115414349
| TRPS1 | G1174fs, G1180fs, G1178fs, G1187fs | Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I | Pathogenic
(Dec 17, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr8:116599519
- GRCh38:
- Chr8:115587292
| TRPS1 | | Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I | Benign
(Sep 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:116616196
- GRCh38:
- Chr8:115603969
| TRPS1 | S658L, S660L, S667L, S654L | Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I | Likely benign
(Sep 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:116426515
- GRCh38:
- Chr8:115414287
| TRPS1 | | Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I | Likely benign
(May 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:116632148
- GRCh38:
- Chr8:115619921
| TRPS1 | | Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I | Likely benign
(Jul 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:116632253
- GRCh38:
- Chr8:115620026
| TRPS1 | | Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I | Likely benign
(Jan 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:116426419
- GRCh38:
- Chr8:115414191
| TRPS1 | D1226E, D1232E, D1230E, D1239E | Trichorhinophalangeal dysplasia type I, Trichorhinophalangeal syndrome, type III | Uncertain significance
(May 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:116599646
- GRCh38:
- Chr8:115587419
| TRPS1 | N748S, N752S, N754S, N761S | Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I | Benign
(Oct 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:116426623
- GRCh38:
- Chr8:115414395
| TRPS1 | | Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I | Likely benign
(May 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:116631934
- GRCh38:
- Chr8:115619707
| TRPS1 | A118S, A122S, A124S, A131S | Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I, Inborn genetic diseases
| Likely benign
(Nov 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:116430603
- GRCh38:
- Chr8:115418375
| TRPS1 | | Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I | Likely benign
(Oct 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:116426803
- GRCh38:
- Chr8:115414575
| TRPS1 | | Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I | Likely benign
(Aug 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:116426562
- GRCh38:
- Chr8:115414334
| TRPS1 | G1179S, G1192S, G1183S, G1185S | Trichorhinophalangeal dysplasia type I, Trichorhinophalangeal syndrome, type III | Likely benign
(Nov 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:116631935
- GRCh38:
- Chr8:115619708
| TRPS1 | A118fs, A131fs, A122fs, A124fs | Trichorhinophalangeal dysplasia type I, Trichorhinophalangeal syndrome, type III | Pathogenic
(Oct 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:116430695
- GRCh38:
- Chr8:115418467
| TRPS1, LOC110120802 | | Trichorhinophalangeal dysplasia type I, Trichorhinophalangeal syndrome, type III | Likely benign
(Sep 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:116617113
- GRCh38:
- Chr8:115604886
| TRPS1 | | Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I | Likely benign
(Aug 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:116616729
- GRCh38:
- Chr8:115604502
| TRPS1 | | Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I | Likely benign
(Sep 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:116426907
- GRCh38:
- Chr8:115414679
| TRPS1 | R1077*, R1070*, R1068*, R1064* | Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I | Pathogenic
(Sep 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:116426650
- GRCh38:
- Chr8:115414422
| TRPS1 | | Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I | Likely benign
(Sep 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:116427229
- GRCh38:
- Chr8:115415001
| TRPS1 | E956D, E962D, E969D, E960D | Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I | Uncertain significance
(Jul 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:116427270
- GRCh38:
- Chr8:115415042
| TRPS1 | Q943*, Q947*, Q956*, Q949* | Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I | Pathogenic
(Aug 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:116427125-116427126
- GRCh38:
- Chr8:115414897-115414898
| TRPS1 | S991fs, S997fs, S995fs, S1004fs | Trichorhinophalangeal dysplasia type I, Trichorhinophalangeal syndrome, type III | Pathogenic
(Jul 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:116426387
- GRCh38:
- Chr8:115414159
| TRPS1 | H1237R, H1243R, H1250R, H1241R | Trichorhinophalangeal dysplasia type I, Trichorhinophalangeal syndrome, type III | Uncertain significance
(May 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:116616249
- GRCh38:
- Chr8:115604022
| TRPS1 | | Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I | Likely benign
(Jan 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:116631984
- GRCh38:
- Chr8:115619757
| TRPS1 | P101L, P105L, P107L, P114L | Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I | Uncertain significance
(Feb 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:116599783
- GRCh38:
- Chr8:115587556
| TRPS1 | | Trichorhinophalangeal dysplasia type I, Trichorhinophalangeal syndrome, type III | Likely benign
(Mar 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:116616204
- GRCh38:
- Chr8:115603977
| TRPS1 | | Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I | Likely benign
(Jul 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:116426524
- GRCh38:
- Chr8:115414296
| TRPS1 | | Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I | Likely benign
(Jun 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:116599365
- GRCh38:
- Chr8:115587138
| TRPS1 | I846F, I848F, I842F, I855F | Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I | Likely benign
(Jun 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:116616160
- GRCh38:
- Chr8:115603933
| TRPS1 | H672L, H666L, H670L, H679L | Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I | Uncertain significance
(Oct 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:116631937
- GRCh38:
- Chr8:115619710
| TRPS1 | A130P, A117P, A121P, A123P | Trichorhinophalangeal dysplasia type I, Trichorhinophalangeal syndrome, type III | Uncertain significance
(Oct 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:116599491
- GRCh38:
- Chr8:115587264
| TRPS1 | | Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I | Likely benign
(Dec 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr8:116617000
- GRCh38:
- Chr8:115604773
| TRPS1 | L386R, L399R, L392R, L390R | Trichorhinophalangeal dysplasia type I, Trichorhinophalangeal syndrome, type III | Uncertain significance
(Aug 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:116599271
- GRCh38:
- Chr8:115587044
| TRPS1 | S877L, S886L, S873L, S879L | Inborn genetic diseases, Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I
| Likely benign
(Oct 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:116599386
- GRCh38:
- Chr8:115587159
| TRPS1 | A835T, A841T, A848T, A839T | Trichorhinophalangeal dysplasia type I, Trichorhinophalangeal syndrome, type III | Uncertain significance
(Oct 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:116631864
- GRCh38:
- Chr8:115619637
| TRPS1 | C145Y, C147Y, C154Y, C141Y | Trichorhinophalangeal dysplasia type I, Trichorhinophalangeal syndrome, type III | Uncertain significance
(Jun 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:116616319
- GRCh38:
- Chr8:115604092
| TRPS1 | K613R, K617R, K626R, K619R | Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I | Uncertain significance
(Aug 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:116599618
- GRCh38:
- Chr8:115587391
| TRPS1 | | Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I | Likely benign
(Feb 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:116632185
- GRCh38:
- Chr8:115619958
| TRPS1 | N40S, N38S, N47S, N34S | Trichorhinophalangeal dysplasia type I, Trichorhinophalangeal syndrome, type III | Uncertain significance
(Jul 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:116617203
- GRCh38:
- Chr8:115604976
| TRPS1 | | Trichorhinophalangeal dysplasia type I, Trichorhinophalangeal syndrome, type III | Likely benign
(Sep 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:116616170
- GRCh38:
- Chr8:115603943
| TRPS1 | S667R, S676R, S663R, S669R | Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I | Likely benign
(Aug 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:116631911
- GRCh38:
- Chr8:115619684
| TRPS1 | | Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I | Likely benign
(Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:116426618
- GRCh38:
- Chr8:115414390
| TRPS1 | N1166S, N1164S, N1173S, N1160S | Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I | Uncertain significance
(Aug 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:116599290
- GRCh38:
- Chr8:115587063
| TRPS1 | P871S, P867S, P873S, P880S | Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I | Uncertain significance
(Feb 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:116632031
- GRCh38:
- Chr8:115619804
| TRPS1 | | Trichorhinophalangeal dysplasia type I, Trichorhinophalangeal syndrome, type III | Likely benign
(Nov 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:116616222
- GRCh38:
- Chr8:115603995
| TRPS1 | | Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I | Likely benign
(Aug 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:116427069
- GRCh38:
- Chr8:115414841
| TRPS1 | | Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I | Likely benign
(May 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:116599843
- GRCh38:
- Chr8:115587616
| TRPS1 | | Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I | Likely benign
(Sep 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:116616215-116616217
- GRCh38:
- Chr8:115603988-115603990
| TRPS1 | E647del, E651del, E653del, E660del | Trichorhinophalangeal dysplasia type I | Uncertain significance
(May 25, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr8:116631755
- GRCh38:
- Chr8:115619528
| TRPS1 | L177F, L181F, L183F, L190F | Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I | Uncertain significance
(Oct 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:116599319
- GRCh38:
- Chr8:115587092
| TRPS1 | P857L, P861L, P863L, P870L | Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I | Uncertain significance
(Sep 26, 2022) | criteria provided, single submitter |