| - GRCh37:
- Chr1:231406726
- GRCh38:
- Chr1:231270980
| GNPAT | M440K, M501K | Rhizomelic chondrodysplasia punctata type 2 | Uncertain significance
(Aug 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:231411033
- GRCh38:
- Chr1:231275287
| GNPAT | V543I, V604I | not provided, Rhizomelic chondrodysplasia punctata type 2 | Uncertain significance
(Jul 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:231401904
- GRCh38:
- Chr1:231266158
| GNPAT | S245C, S306C | Rhizomelic chondrodysplasia punctata type 2, not provided | Uncertain significance
(Jul 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:231396289
- GRCh38:
- Chr1:231260543
| GNPAT | R100*, R39* | Rhizomelic chondrodysplasia punctata type 2 | Likely pathogenic
(Oct 30, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr1:231401036
- GRCh38:
- Chr1:231265290
| GNPAT | | Rhizomelic chondrodysplasia punctata type 2 | Conflicting interpretations of pathogenicity
(Apr 1, 2023) | no assertion criteria provided |
| - GRCh37:
- Chr1:231413266
- GRCh38:
- Chr1:231277520
| GNPAT | K613I, K674I | not provided, Rhizomelic chondrodysplasia punctata type 2 | Uncertain significance
(Aug 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:231406652
- GRCh38:
- Chr1:231270906
| GNPAT | | Rhizomelic chondrodysplasia punctata type 2 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:231406577
- GRCh38:
- Chr1:231270831
| GNPAT | D390E, D451E | Rhizomelic chondrodysplasia punctata type 2 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:231377043
- GRCh38:
- Chr1:231241297
| GNPAT | | Rhizomelic chondrodysplasia punctata type 2 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:231413687
- GRCh38:
- Chr1:231277941
| GNPAT | | Rhizomelic chondrodysplasia punctata type 2 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:231413626
- GRCh38:
- Chr1:231277880
| GNPAT | | Rhizomelic chondrodysplasia punctata type 2 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:231403465
- GRCh38:
- Chr1:231267719
| GNPAT | | Rhizomelic chondrodysplasia punctata type 2, not provided | Conflicting interpretations of pathogenicity
(Jul 6, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:231402086
- GRCh38:
- Chr1:231266340
| GNPAT | D330Y, D269Y | Rhizomelic chondrodysplasia punctata type 2, not provided | Uncertain significance
(Jun 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:231376972
- GRCh38:
- Chr1:231241226
| GNPAT, LOC129932767 | | Rhizomelic chondrodysplasia punctata type 2 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:231413417
- GRCh38:
- Chr1:231277671
| GNPAT | | Rhizomelic chondrodysplasia punctata type 2 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:231413333
- GRCh38:
- Chr1:231277587
| GNPAT | | Rhizomelic chondrodysplasia punctata type 2 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:231413306
- GRCh38:
- Chr1:231277560
| GNPAT | | not provided, Rhizomelic chondrodysplasia punctata type 2 | Benign/Likely benign
(Oct 25, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:231402028
- GRCh38:
- Chr1:231266282
| GNPAT | | Rhizomelic chondrodysplasia punctata type 2 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:231401915
- GRCh38:
- Chr1:231266169
| GNPAT | | Rhizomelic chondrodysplasia punctata type 2 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:231409778
- GRCh38:
- Chr1:231274032
| GNPAT | | not provided, Rhizomelic chondrodysplasia punctata type 2 | Conflicting interpretations of pathogenicity
(Oct 24, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:231409743
- GRCh38:
- Chr1:231273997
| GNPAT | E499K, E560K | not provided, Rhizomelic chondrodysplasia punctata type 2 | Uncertain significance
(Jul 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:231409733
- GRCh38:
- Chr1:231273987
| GNPAT | | Rhizomelic chondrodysplasia punctata type 2 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:231401508
- GRCh38:
- Chr1:231265762
| GNPAT | | not provided, Rhizomelic chondrodysplasia punctata type 2 | Conflicting interpretations of pathogenicity
(Sep 27, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:231377189
- GRCh38:
- Chr1:231241443
| GNPAT | V22A | not provided, Rhizomelic chondrodysplasia punctata type 2 | Conflicting interpretations of pathogenicity
(Oct 25, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:231401503
- GRCh38:
- Chr1:231265757
| GNPAT | R187C, R248C | not specified | Uncertain significance
(Nov 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:231403406
- GRCh38:
- Chr1:231267660
| GNPAT | | not provided, Rhizomelic chondrodysplasia punctata type 2 | Benign/Likely benign
(Jul 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:231398472
- GRCh38:
- Chr1:231262726
| GNPAT | Q87*, Q148* | Rhizomelic chondrodysplasia punctata type 2 | Likely pathogenic
(Aug 23, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:231396280
- GRCh38:
- Chr1:231260534
| GNPAT | D97N, D36N | Rhizomelic chondrodysplasia punctata type 2 | Uncertain significance
(Aug 7, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:231402007
- GRCh38:
- Chr1:231266261
| GNPAT | | not specified, Rhizomelic chondrodysplasia punctata type 2, not provided
| Benign/Likely benign
(Oct 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:231402006
- GRCh38:
- Chr1:231266260
| GNPAT | | not specified, not provided, Rhizomelic chondrodysplasia punctata type 2
| Benign
(Nov 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:231401099
- GRCh38:
- Chr1:231265353
| GNPAT | R210Q, R149Q | not provided, Inborn genetic diseases, Rhizomelic chondrodysplasia punctata type 2
| Conflicting interpretations of pathogenicity
(Oct 10, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:231413677
- GRCh38:
- Chr1:231277931
| GNPAT | | Rhizomelic chondrodysplasia punctata type 2 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:231413483
- GRCh38:
- Chr1:231277737
| GNPAT | | Rhizomelic chondrodysplasia punctata type 2 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:231413290
- GRCh38:
- Chr1:231277544
| GNPAT | | Rhizomelic chondrodysplasia punctata type 2 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:231413268
- GRCh38:
- Chr1:231277522
| GNPAT | P675S, P614S | Rhizomelic chondrodysplasia punctata type 2 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:231411199
- GRCh38:
- Chr1:231275453
| GNPAT | A631V, A570V | Inborn genetic diseases, not provided, Rhizomelic chondrodysplasia punctata type 2
| Conflicting interpretations of pathogenicity
(Oct 4, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:231411197
- GRCh38:
- Chr1:231275451
| GNPAT | | Rhizomelic chondrodysplasia punctata type 2 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:231410954
- GRCh38:
- Chr1:231275208
| GNPAT | | not provided, Rhizomelic chondrodysplasia punctata type 2 | Conflicting interpretations of pathogenicity
(Jun 23, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:231409745
- GRCh38:
- Chr1:231273999
| GNPAT | | Rhizomelic chondrodysplasia punctata type 2 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:231409713
- GRCh38:
- Chr1:231273967
| GNPAT | Q550E, Q489E | not provided, Rhizomelic chondrodysplasia punctata type 2 | Uncertain significance
(Jul 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:231406712
- GRCh38:
- Chr1:231270966
| GNPAT | | Rhizomelic chondrodysplasia punctata type 2 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:231406707
- GRCh38:
- Chr1:231270961
| GNPAT | V495I, V434I | not specified, not provided, Rhizomelic chondrodysplasia punctata type 2
| Benign/Likely benign
(Nov 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:231406703
- GRCh38:
- Chr1:231270957
| GNPAT | | not provided, Rhizomelic chondrodysplasia punctata type 2, not specified
| Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:231406677
- GRCh38:
- Chr1:231270931
| GNPAT | | not specified, not provided, Rhizomelic chondrodysplasia punctata type 2
| Conflicting interpretations of pathogenicity
(Apr 17, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:231406648
- GRCh38:
- Chr1:231270902
| GNPAT | L475P, L414P | Rhizomelic chondrodysplasia punctata type 2 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:231406532
- GRCh38:
- Chr1:231270786
| GNPAT | | not provided, Rhizomelic chondrodysplasia punctata type 2 | Benign/Likely benign
(Sep 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:231406531
- GRCh38:
- Chr1:231270785
| GNPAT | P436L, P375L | Rhizomelic chondrodysplasia punctata type 2, Inborn genetic diseases, not provided
| Uncertain significance
(Jul 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:231406496
- GRCh38:
- Chr1:231270750
| GNPAT | | Rhizomelic chondrodysplasia punctata type 2 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:231403442
- GRCh38:
- Chr1:231267696
| GNPAT | Q358K, Q297K | not provided, Rhizomelic chondrodysplasia punctata type 2 | Uncertain significance
(Oct 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:231402142
- GRCh38:
- Chr1:231266396
| GNPAT | | Rhizomelic chondrodysplasia punctata type 2 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:231402141
- GRCh38:
- Chr1:231266395
| GNPAT | N348S, N287S | not provided, Rhizomelic chondrodysplasia punctata type 2 | Conflicting interpretations of pathogenicity
(Sep 23, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:231402129
- GRCh38:
- Chr1:231266383
| GNPAT | R344Q, R283Q | not provided, Rhizomelic chondrodysplasia punctata type 2 | Uncertain significance
(Apr 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:231402128
- GRCh38:
- Chr1:231266382
| GNPAT | R344W, R283W | Rhizomelic chondrodysplasia punctata type 2 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:231402105
- GRCh38:
- Chr1:231266359
| GNPAT | S336Y, S275Y | Rhizomelic chondrodysplasia punctata type 2, not provided | Uncertain significance
(Jul 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:231401785
- GRCh38:
- Chr1:231266039
| GNPAT | | Rhizomelic chondrodysplasia punctata type 2 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:231401467
- GRCh38:
- Chr1:231265721
| GNPAT | A236P, A175P | Rhizomelic chondrodysplasia punctata type 2, Inborn genetic diseases | Uncertain significance
(Jun 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:231401078
- GRCh38:
- Chr1:231265332
| GNPAT | M203K, M142K | Inborn genetic diseases, Rhizomelic chondrodysplasia punctata type 2 | Uncertain significance
(Mar 2, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:231398506
- GRCh38:
- Chr1:231262760
| GNPAT | L159P, L98P | Rhizomelic chondrodysplasia punctata type 2 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:231396277
- GRCh38:
- Chr1:231260531
| GNPAT | V96L, V35L | Rhizomelic chondrodysplasia punctata type 2, Inborn genetic diseases, not provided
| Uncertain significance
(Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:231396269
- GRCh38:
- Chr1:231260523
| GNPAT | L93R, L32R | Rhizomelic chondrodysplasia punctata type 2 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:231377181
- GRCh38:
- Chr1:231241435
| GNPAT | | Rhizomelic chondrodysplasia punctata type 2, not provided | Conflicting interpretations of pathogenicity
(Jan 21, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:231377119
- GRCh38:
- Chr1:231241373
| GNPAT | | Rhizomelic chondrodysplasia punctata type 2 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:231377081
- GRCh38:
- Chr1:231241335
| GNPAT | | not specified, Rhizomelic chondrodysplasia punctata type 2 | Benign
(Aug 10, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:231377078
- GRCh38:
- Chr1:231241332
| GNPAT | | Rhizomelic chondrodysplasia punctata type 2 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:231377071
- GRCh38:
- Chr1:231241325
| GNPAT | | Rhizomelic chondrodysplasia punctata type 2 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:231377041
- GRCh38:
- Chr1:231241295
| GNPAT | | Rhizomelic chondrodysplasia punctata type 2, not provided | Benign/Likely benign
(Jun 14, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:231377004
- GRCh38:
- Chr1:231241258
| GNPAT | | Rhizomelic chondrodysplasia punctata type 2 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:231376980
- GRCh38:
- Chr1:231241234
| GNPAT, LOC129932767 | | not provided, Rhizomelic chondrodysplasia punctata type 2 | Benign/Likely benign
(Oct 21, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:231376978
- GRCh38:
- Chr1:231241232
| GNPAT, LOC129932767 | | Rhizomelic chondrodysplasia punctata type 2 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:231401902
- GRCh38:
- Chr1:231266156
| GNPAT | | not provided, Rhizomelic chondrodysplasia punctata type 2, not specified
| Benign
(Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:231398555
- GRCh38:
- Chr1:231262809
| GNPAT | | not specified, not provided, Rhizomelic chondrodysplasia punctata type 2
| Benign
(Oct 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:231377150
- GRCh38:
- Chr1:231241404
| GNPAT | S9F | not specified, not provided, Rhizomelic chondrodysplasia punctata type 2
| Benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:231403582
- GRCh38:
- Chr1:231267836
| GNPAT | | Rhizomelic chondrodysplasia punctata type 2, Rhizomelic chondrodysplasia punctata, not specified,
not provided | Conflicting interpretations of pathogenicity
(Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:231401025
- GRCh38:
- Chr1:231265279
| GNPAT | | not provided, not specified, Rhizomelic chondrodysplasia punctata type 2
| Conflicting interpretations of pathogenicity
(May 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:231398585
- GRCh38:
- Chr1:231262839
| GNPAT | | not provided, not specified, Rhizomelic chondrodysplasia punctata type 2
| Conflicting interpretations of pathogenicity
(Sep 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:231411249
- GRCh38:
- Chr1:231275503
| GNPAT | | Rhizomelic chondrodysplasia punctata type 2 | Pathogenic
(Jan 1, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr1:231406653-231406654
- GRCh38:
- Chr1:231270907-231270908
| GNPAT | M416fs, M477fs | Rhizomelic chondrodysplasia punctata type 2 | Pathogenic
(Jan 1, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr1:231406501
- GRCh38:
- Chr1:231270755
| GNPAT | | Rhizomelic chondrodysplasia punctata type 2 | Pathogenic
(Jan 1, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr1:231408091
- GRCh38:
- Chr1:231272345
| GNPAT | D519G, D458G | not specified, not provided, Rhizomelic chondrodysplasia punctata type 2
| Benign/Likely benign
(Oct 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:231408110
- GRCh38:
- Chr1:231272364
| GNPAT | F464fs, F525fs | Rhizomelic chondrodysplasia punctata type 2 | Pathogenic
(May 1, 1998) | no assertion criteria provided |
| - GRCh37:
- Chr1:231401767
- GRCh38:
- Chr1:231266021
| GNPAT | N200fs, N261fs | Rhizomelic chondrodysplasia punctata type 2 | Pathogenic
(May 1, 1998) | no assertion criteria provided |
| - GRCh37:
- Chr1:231401835-231401836
- GRCh38:
- Chr1:231266089-231266090
| GNPAT | Y223fs, Y284fs | Rhizomelic chondrodysplasia punctata type 2 | Pathogenic
(May 1, 1998) | no assertion criteria provided |
| - GRCh37:
- Chr1:231401101
- GRCh38:
- Chr1:231265355
| GNPAT | R211C, R150C | Rhizomelic chondrodysplasia punctata | Likely pathogenic
(May 22, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:231401102
- GRCh38:
- Chr1:231265356
| GNPAT | R211H, R150H | not provided | Pathogenic
(Oct 2, 2017) | criteria provided, single submitter |