| - GRCh37:
- Chr19:18897069-18897070
- GRCh38:
- Chr19:18786259-18786260
| COMP | C430fs | Multiple epiphyseal dysplasia type 1 | Uncertain significance
(Nov 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18899268
- GRCh38:
- Chr19:18788459
| COMP | D273G | Multiple epiphyseal dysplasia type 1 | Likely pathogenic
(Nov 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18896486
- GRCh38:
- Chr19:18785676
| COMP | N555K | not provided, Multiple epiphyseal dysplasia type 1 | Pathogenic/Likely pathogenic
(Mar 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:18895040
- GRCh38:
- Chr19:18784230
| COMP | R683H | Multiple epiphyseal dysplasia type 1 | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr19:18899047
- GRCh38:
- Chr19:18788238
| COMP | D317Y | Multiple epiphyseal dysplasia type 1 | Likely pathogenic
(May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18896897
- GRCh38:
- Chr19:18786087
| COMP | Q456P | Multiple epiphyseal dysplasia type 1 | Likely pathogenic
(Apr 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18899110
- GRCh38:
- Chr19:18788301
| COMP | P296S | Multiple epiphyseal dysplasia type 1 | Pathogenic
(Apr 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18893920-18893921
- GRCh38:
- Chr19:18783110-18783111
| COMP | V724fs | Multiple epiphyseal dysplasia type 1 | Likely pathogenic
(Apr 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18898309
- GRCh38:
- Chr19:18787500
| COMP | D376N | Multiple epiphyseal dysplasia type 1 | Likely pathogenic
(Apr 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18893999
- GRCh38:
- Chr19:18783189
| COMP | R698* | not provided, Multiple epiphyseal dysplasia type 1 | Uncertain significance
(Sep 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:18898313-18898315
- GRCh38:
- Chr19:18787504-18787506
| COMP | D374del | Multiple epiphyseal dysplasia type 1, not provided | Pathogenic/Likely pathogenic
(Nov 22, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:18897395
- GRCh38:
- Chr19:18786585
| COMP | D401Y | Multiple epiphyseal dysplasia type 1 | Likely pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr19:18900827
- GRCh38:
- Chr19:18790018
| COMP | T105M | Multiple epiphyseal dysplasia type 1 | Uncertain significance
(Apr 29, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18898459
- GRCh38:
- Chr19:18787650
| COMP | D326N | Multiple epiphyseal dysplasia type 1, not provided | Pathogenic/Likely pathogenic
(Jun 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:48269248
- GRCh38:
- Chr17:50191887
| COL1A1 | | Multiple epiphyseal dysplasia type 1, Osteogenesis imperfecta, recessive perinatal lethal | Pathogenic
(May 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18896650
- GRCh38:
- Chr19:18785840
| COMP | G501S | Multiple epiphyseal dysplasia type 1 | Likely pathogenic
(Apr 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18897368
- GRCh38:
- Chr19:18786558
| COMP | C410G | Multiple epiphyseal dysplasia type 1 | Likely pathogenic
(Oct 5, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18899656
- GRCh38:
- Chr19:18788847
| COMP | N199D | Multiple epiphyseal dysplasia type 1 | Uncertain significance
(Mar 8, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18896947
- GRCh38:
- Chr19:18786137
| COMP | D439E | not provided, Multiple epiphyseal dysplasia type 1 | Likely pathogenic
(Jun 2, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:18899028
- GRCh38:
- Chr19:18788219
| COMP | N323S | not provided | Uncertain significance
(Dec 23, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18896810
- GRCh38:
- Chr19:18786000
| COMP | R485H | Multiple epiphyseal dysplasia type 1 | Uncertain significance
(Jun 17, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr19:18896861
- GRCh38:
- Chr19:18786051
| COMP | C468S | Multiple epiphyseal dysplasia type 1 | Likely pathogenic
(Apr 26, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18897443
- GRCh38:
- Chr19:18786633
| COMP | D385N | Multiple epiphyseal dysplasia type 1, Carpal tunnel syndrome 2, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome,
not provided, Multiple epiphyseal dysplasia type 1 | Pathogenic/Likely pathogenic
(Oct 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:18901356
- GRCh38:
- Chr19:18790547
| COMP | | Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, Multiple epiphyseal dysplasia type 1 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18900760
- GRCh38:
- Chr19:18789951
| COMP | | Multiple epiphyseal dysplasia type 1, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18899072
- GRCh38:
- Chr19:18788263
| COMP | | Multiple epiphyseal dysplasia type 1, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome | Benign/Likely benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18893878
- GRCh38:
- Chr19:18783068
| COMP | R738H | not provided, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, Multiple epiphyseal dysplasia type 1
| Conflicting interpretations of pathogenicity
(Oct 4, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:18900937
- GRCh38:
- Chr19:18790128
| COMP | | Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, Multiple epiphyseal dysplasia type 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18900936
- GRCh38:
- Chr19:18790127
| COMP | | Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, Multiple epiphyseal dysplasia type 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18899669
- GRCh38:
- Chr19:18788860
| COMP | N194K | Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, Multiple epiphyseal dysplasia type 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18897396
- GRCh38:
- Chr19:18786586
| COMP | | not provided, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, Multiple epiphyseal dysplasia type 1
| Conflicting interpretations of pathogenicity
(Oct 24, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:18896858
- GRCh38:
- Chr19:18786048
| COMP | D469V | Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, Multiple epiphyseal dysplasia type 1 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18896530
- GRCh38:
- Chr19:18785720
| COMP | P541A | Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, Multiple epiphyseal dysplasia type 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18902093
- GRCh38:
- Chr19:18791284
| COMP | | Multiple epiphyseal dysplasia type 1, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome | Uncertain significance
(Jan 17, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18900929
- GRCh38:
- Chr19:18790120
| COMP | | not provided, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, Multiple epiphyseal dysplasia type 1
| Benign/Likely benign
(Oct 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:18900906
- GRCh38:
- Chr19:18790097
| COMP | R79S | Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, Multiple epiphyseal dysplasia type 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18899520
- GRCh38:
- Chr19:18788711
| COMP | G215R | not provided, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, Multiple epiphyseal dysplasia type 1
| Uncertain significance
(Sep 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:18899463
- GRCh38:
- Chr19:18788654
| COMP | P234S | not provided, not specified, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome,
Multiple epiphyseal dysplasia type 1 | Conflicting interpretations of pathogenicity
(Oct 25, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:18895817
- GRCh38:
- Chr19:18785007
| COMP | | not provided, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, Multiple epiphyseal dysplasia type 1
| Conflicting interpretations of pathogenicity
(Aug 1, 2020) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:18900827
- GRCh38:
- Chr19:18790018
| COMP | T105K | Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, Multiple epiphyseal dysplasia type 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18900814
- GRCh38:
- Chr19:18790005
| COMP | | Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, Multiple epiphyseal dysplasia type 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18900796
- GRCh38:
- Chr19:18789987
| COMP | | Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, Multiple epiphyseal dysplasia type 1 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18899236
- GRCh38:
- Chr19:18788427
| COMP | E284K | not provided, Multiple epiphyseal dysplasia type 1, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
| Uncertain significance
(Oct 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:18899224
- GRCh38:
- Chr19:18788415
| COMP | R288S | Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, Multiple epiphyseal dysplasia type 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18895726
- GRCh38:
- Chr19:18784916
| COMP | E632K | Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, not provided, Multiple epiphyseal dysplasia type 1
| Uncertain significance
(Sep 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:18902068
- GRCh38:
- Chr19:18791259
| COMP | D4A | not provided, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, Multiple epiphyseal dysplasia type 1,
Connective tissue disorder, Inborn genetic diseases | Conflicting interpretations of pathogenicity
(Sep 7, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:18899122
- GRCh38:
- Chr19:18788313
| COMP | C292R | not provided, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, Multiple epiphyseal dysplasia type 1
| Pathogenic/Likely pathogenic
(Aug 28, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:18896955
- GRCh38:
- Chr19:18786145
| COMP | D437N | not provided, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, Multiple epiphyseal dysplasia type 1
| Conflicting interpretations of pathogenicity
(Aug 2, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:18897443
- GRCh38:
- Chr19:18786633
| COMP | D385Y | Multiple epiphyseal dysplasia type 1 | Pathogenic
(Nov 7, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18895132
- GRCh38:
- Chr19:18784322
| COMP | | Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, Multiple epiphyseal dysplasia type 1, Connective tissue disorder,
not provided | Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:18893939
- GRCh38:
- Chr19:18783129
| COMP | | not provided, Connective tissue disorder, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome,
Multiple epiphyseal dysplasia type 1 | Benign/Likely benign
(Oct 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:18900781
- GRCh38:
- Chr19:18789972
| COMP | | Multiple epiphyseal dysplasia type 1, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, not provided
| Benign/Likely benign
(Jul 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:18899323
- GRCh38:
- Chr19:18788514
| COMP | C255R | not provided, Multiple epiphyseal dysplasia type 1 | Conflicting interpretations of pathogenicity
(Nov 30, 2019) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:18899109
- GRCh38:
- Chr19:18788300
| COMP | P296R | Multiple epiphyseal dysplasia type 1 | Likely pathogenic
(Jul 19, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18896949
- GRCh38:
- Chr19:18786139
| COMP | D439N | Multiple epiphyseal dysplasia type 1 | Likely pathogenic
(May 5, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18893941
- GRCh38:
- Chr19:18783131
| COMP | M717R | Multiple epiphyseal dysplasia type 1 | Uncertain significance
(Dec 12, 2018) | no assertion criteria provided |
| - GRCh37:
- Chr19:18897091
- GRCh38:
- Chr19:18786281
| COMP | D422A | Multiple epiphyseal dysplasia type 1 | Likely pathogenic
(Oct 17, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18900938
- GRCh38:
- Chr19:18790129
| COMP | | not provided, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, Multiple epiphyseal dysplasia type 1
| Conflicting interpretations of pathogenicity
(Sep 18, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:18898309
- GRCh38:
- Chr19:18787500
| COMP | D376Y | Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, Multiple epiphyseal dysplasia type 1 | Likely pathogenic
(Aug 3, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18896773
- GRCh38:
- Chr19:18785963
| COMP | | Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, Multiple epiphyseal dysplasia type 1 | Uncertain significance
(Jun 12, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18902087
- GRCh38:
- Chr19:18791278
| COMP | | Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, Multiple epiphyseal dysplasia type 1 | Benign/Likely benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18902010
- GRCh38:
- Chr19:18791201
| COMP | | Multiple epiphyseal dysplasia type 1, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18901737
- GRCh38:
- Chr19:18790928
| COMP | | Multiple epiphyseal dysplasia type 1, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, not provided
| Conflicting interpretations of pathogenicity
(Oct 12, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:18901650
- GRCh38:
- Chr19:18790841
| COMP | | Multiple epiphyseal dysplasia type 1, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18901393
- GRCh38:
- Chr19:18790584
| COMP | | Multiple epiphyseal dysplasia type 1, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, not provided
| Benign
(Oct 29, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:18900937
- GRCh38:
- Chr19:18790128
| COMP | | Multiple epiphyseal dysplasia type 1, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18900930
- GRCh38:
- Chr19:18790121
| COMP | | Multiple epiphyseal dysplasia type 1, not provided, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome,
not specified | Conflicting interpretations of pathogenicity
(Sep 23, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:18900862
- GRCh38:
- Chr19:18790053
| COMP | | Multiple epiphyseal dysplasia type 1, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, not provided
| Benign
(Nov 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:18900764
- GRCh38:
- Chr19:18789955
| COMP | T126I | Multiple epiphyseal dysplasia type 1, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18900087
- GRCh38:
- Chr19:18789278
| COMP | F137S | Multiple epiphyseal dysplasia type 1, Connective tissue disorder, not provided,
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome | Benign/Likely benign
(Oct 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:18900029
- GRCh38:
- Chr19:18789220
| COMP | | Multiple epiphyseal dysplasia type 1, not provided, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
| Benign/Likely benign
(Aug 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:18899685
- GRCh38:
- Chr19:18788876
| COMP | H189R | Multiple epiphyseal dysplasia type 1, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18899663
- GRCh38:
- Chr19:18788854
| COMP | | Multiple epiphyseal dysplasia type 1, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome | Likely benign
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18899543
- GRCh38:
- Chr19:18788734
| COMP | G207D | Multiple epiphyseal dysplasia type 1, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18899329
- GRCh38:
- Chr19:18788520
| COMP | | Multiple epiphyseal dysplasia type 1, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18899208
- GRCh38:
- Chr19:18788399
| COMP | | Multiple epiphyseal dysplasia type 1, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, not provided
| Conflicting interpretations of pathogenicity
(Mar 23, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:18899132
- GRCh38:
- Chr19:18788323
| COMP | | not provided, Multiple epiphyseal dysplasia type 1, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
| Conflicting interpretations of pathogenicity
(Sep 23, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:18896561
- GRCh38:
- Chr19:18785751
| COMP | D530E | Multiple epiphyseal dysplasia type 1, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, not provided
| Conflicting interpretations of pathogenicity
(Sep 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:18896470
- GRCh38:
- Chr19:18785660
| COMP | | not provided, Multiple epiphyseal dysplasia type 1, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
| Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:18896470
- GRCh38:
- Chr19:18785660
| COMP | | Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, Multiple epiphyseal dysplasia type 1, not provided
| Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:18895784
- GRCh38:
- Chr19:18784974
| COMP | | Multiple epiphyseal dysplasia type 1, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18895109
- GRCh38:
- Chr19:18784299
| COMP | T660R | Inborn genetic diseases, Multiple epiphyseal dysplasia type 1, not provided,
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome | Conflicting interpretations of pathogenicity
(Aug 22, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:18895095
- GRCh38:
- Chr19:18784285
| COMP | | Multiple epiphyseal dysplasia type 1, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18893856
- GRCh38:
- Chr19:18783046
| COMP | | Connective tissue disorder, not provided, Multiple epiphyseal dysplasia type 1,
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome | Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:18893710
- GRCh38:
- Chr19:18782900
| COMP | | Multiple epiphyseal dysplasia type 1, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome | Benign
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18893633
- GRCh38:
- Chr19:18782823
| COMP | | Multiple epiphyseal dysplasia type 1, not provided, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
| Benign/Likely benign
(Nov 10, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:18893614
- GRCh38:
- Chr19:18782804
| COMP | | Multiple epiphyseal dysplasia type 1, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18899389
- GRCh38:
- Chr19:18788580
| COMP | | not specified, not provided, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome,
Multiple epiphyseal dysplasia type 1 | Benign/Likely benign
(Oct 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:18893732
- GRCh38:
- Chr19:18782922
| COMP | Q756R | not provided, not specified, Multiple epiphyseal dysplasia type 1,
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome | Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:18900937
- GRCh38:
- Chr19:18790128
| COMP | | not specified, not provided, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome,
Multiple epiphyseal dysplasia type 1 | Benign/Likely benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:18895865
- GRCh38:
- Chr19:18785055
| COMP | | not specified, not provided, Multiple epiphyseal dysplasia type 1,
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, Carpal tunnel syndrome 2, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome,
Multiple epiphyseal dysplasia type 1 | Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:18893724
- GRCh38:
- Chr19:18782914
| COMP | | not provided, not specified, Multiple epiphyseal dysplasia type 1,
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome | Benign
(Aug 20, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:18899986
- GRCh38:
- Chr19:18789177
| COMP | A171T | not specified, not provided, Connective tissue disorder,
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, Multiple epiphyseal dysplasia type 1, Multiple epiphyseal dysplasia type 1,
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, Carpal tunnel syndrome 2 | Benign
(Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:18895866
- GRCh38:
- Chr19:18785056
| COMP | T585R | Multiple epiphyseal dysplasia type 1, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, Carpal tunnel syndrome 2
| Pathogenic
(Oct 22, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18896845-18896847
- GRCh38:
- Chr19:18786035-18786037
| COMP | D473del | not provided, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, Multiple epiphyseal dysplasia type 1
| Pathogenic
(Oct 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:18897440
- GRCh38:
- Chr19:18786630
| COMP | N386D | Connective tissue disorder, not specified, not provided,
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, Multiple epiphyseal dysplasia type 1 | Benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:18893939
- GRCh38:
- Chr19:18783129
| COMP | R718W | not provided | Pathogenic/Likely pathogenic
(May 11, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:18893867-18893868
- GRCh38:
- Chr19:18783057-18783058
| COMP | N742fs | Multiple epiphyseal dysplasia type 1 | Pathogenic
(Jan 1, 2003) | no assertion criteria provided |
| - GRCh37:
- Chr19:18896844-18896845
- GRCh38:
- Chr19:18786034-18786035
| COMP | | not provided, Multiple epiphyseal dysplasia type 1 | Pathogenic/Likely pathogenic
(Sep 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:18896582
- GRCh38:
- Chr19:18785772
| COMP | N523K | not provided, Multiple epiphyseal dysplasia type 1 | Pathogenic/Likely pathogenic
(Apr 23, 2022) | criteria provided, multiple submitters, no conflicts |