| - GRCh37:
- Chr1:955596
- GRCh38:
- Chr1:1020216
| AGRN | P15R | not provided | Uncertain significance (Feb 3, 2017) | criteria provided, single submitter | VCV000377270 |
| - GRCh37:
- Chr1:977059-977105
- GRCh38:
- Chr1:1041679-1041725
| AGRN | | Myasthenic syndrome, congenital, 8 | Likely pathogenic (Oct 24, 2018) | criteria provided, single submitter | VCV000930633 |
| - GRCh37:
- Chr1:978741
- GRCh38:
- Chr1:1043361
| AGRN | G503S, G398S | not provided | Uncertain significance (Jun 1, 2018) | criteria provided, single submitter | VCV000623664 |
| - GRCh37:
- Chr1:980948
- GRCh38:
- Chr1:1045568
| AGRN | | not specified | Likely benign | criteria provided, single submitter | VCV000263171 |
| - GRCh37:
- Chr1:981165
- GRCh38:
- Chr1:1045785
| AGRN | | not specified | Likely benign | criteria provided, single submitter | VCV000263174 |
| - GRCh37:
- Chr1:981166
- GRCh38:
- Chr1:1045786
| AGRN | G864R, G759R | not provided | Uncertain significance (Jun 1, 2020) | criteria provided, single submitter | VCV000932316 |
| - GRCh37:
- Chr1:981328
- GRCh38:
- Chr1:1045948
| AGRN | | not specified | Likely benign | criteria provided, single submitter | VCV000263175 |
| - GRCh37:
- Chr1:982059
- GRCh38:
- Chr1:1046679
| AGRN | G1065E, G960E | not provided | Uncertain significance (May 1, 2016) | criteria provided, single submitter | VCV000806027 |
| - GRCh37:
- Chr1:982356
- GRCh38:
- Chr1:1046976
| AGRN | | not specified | Likely benign | criteria provided, single submitter | VCV000263180 |
| - GRCh37:
- Chr1:983004
- GRCh38:
- Chr1:1047624
| AGRN | R1190S, R1085S | not provided | Uncertain significance (Jul 1, 2019) | criteria provided, single submitter | VCV000872688 |
| - GRCh37:
- Chr1:985036
- GRCh38:
- Chr1:1049656
| AGRN | | not provided | Likely benign (Jun 1, 2020) | criteria provided, single submitter | VCV000932317 |
| - GRCh37:
- Chr1:985076
- GRCh38:
- Chr1:1049696
| AGRN | G1444R, G1549R | not provided | Uncertain significance (Sep 1, 2018) | criteria provided, single submitter | VCV000806028 |
| - GRCh37:
- Chr1:985434
- GRCh38:
- Chr1:1050054
| AGRN | | not specified | Likely benign | criteria provided, single submitter | VCV000263190 |
| - GRCh37:
- Chr1:985446
- GRCh38:
- Chr1:1050066
| AGRN | | not specified | Benign | criteria provided, single submitter | VCV000263191 |
| - GRCh37:
- Chr1:985449
- GRCh38:
- Chr1:1050069
| AGRN | | not specified | Benign | criteria provided, single submitter | VCV000263192 |
| - GRCh37:
- Chr1:986716
- GRCh38:
- Chr1:1051336
| AGRN | | not specified | Likely benign | criteria provided, single submitter | VCV000263196 |
| - GRCh37:
- Chr1:990277
- GRCh38:
- Chr1:1054897
| AGRN | | not specified | Likely benign | criteria provided, single submitter | VCV000263201 |
| - GRCh37:
- Chr1:1167996
- GRCh38:
- Chr1:1232616
| B3GALT6 | Q113R | not provided | Uncertain significance (Mar 1, 2017) | criteria provided, single submitter | VCV000424885 |
| - GRCh37:
- Chr1:1168334-1168335
- GRCh38:
- Chr1:1232954-1232955
| B3GALT6 | | not provided | Uncertain significance (Oct 1, 2020) | criteria provided, single submitter | VCV001012718 |
| - GRCh37:
- Chr1:1168334
- GRCh38:
- Chr1:1232954
| B3GALT6 | H226Y | not provided | Uncertain significance (Oct 1, 2017) | criteria provided, single submitter | VCV000806029 |
| - GRCh37:
- Chr1:1168339
- GRCh38:
- Chr1:1232959
| B3GALT6 | Y227* | not provided | Likely pathogenic (Jul 1, 2019) | criteria provided, single submitter | VCV000806030 |
| - GRCh37:
- Chr1:1168351
- GRCh38:
- Chr1:1232971
| B3GALT6 | S231R | not provided | Uncertain significance (Jul 1, 2019) | criteria provided, single submitter | VCV000806031 |
| - GRCh37:
- Chr1:1271515-1271532
- GRCh38:
- Chr1:1336135-1336152
| DVL1 | | Robinow syndrome, autosomal dominant 1 | Uncertain significance (Sep 23, 2019) | criteria provided, single submitter | VCV000931592 |
| - GRCh37:
- Chr1:1271833
- GRCh38:
- Chr1:1336453
| DVL1 | R568W, R593W | not provided | Uncertain significance (Aug 28, 2017) | criteria provided, single submitter | VCV000445443 |
| - GRCh37:
- Chr1:1273387-1273388
- GRCh38:
- Chr1:1338007-1338008
| DVL1 | S537fs, S562fs | Robinow syndrome, autosomal dominant 1 | Likely pathogenic (Aug 9, 2019) | criteria provided, single submitter | VCV000931630 |
| - GRCh37:
- Chr1:1273564-1273648
- GRCh38:
- Chr1:1338184-1338268
| DVL1 | | not provided | not provided | no assertion provided | VCV000208189 |
| - GRCh37:
- Chr1:1371178-1371179
- GRCh38:
- Chr1:1435798-1435799
| VWA1 | G25fs | NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES, Neuromyopathy | Pathogenic/Likely pathogenic (Mar 5, 2021) | no assertion criteria provided | VCV000830327 |
| - GRCh37:
- Chr1:1372416-1372439
- GRCh38:
- Chr1:1437036-1437059
| VWA1 | | Neuromyopathy | Likely pathogenic (Jan 1, 2020) | no assertion criteria provided | VCV000830329 |
| - GRCh37:
- Chr1:1452768
- GRCh38:
- Chr1:1517388
| ATAD3A | | not provided | Likely benign (Nov 1, 2020) | criteria provided, single submitter | VCV001012719 |
| - GRCh37:
- Chr1:1452793
- GRCh38:
- Chr1:1517413
| ATAD3A | | not provided | Likely pathogenic (Oct 23, 2020) | criteria provided, single submitter | VCV000986833 |
| - GRCh37:
- Chr1:1453130
- GRCh38:
- Chr1:1517750
| ATAD3A | R61H, R188H, R140H | not provided | Uncertain significance (Oct 1, 2018) | criteria provided, single submitter | VCV000806032 |
| - GRCh37:
- Chr1:1455577
- GRCh38:
- Chr1:1520197
| ATAD3A | A191T, A112T, A239T | not provided | Uncertain significance (Oct 1, 2018) | criteria provided, single submitter | VCV000806033 |
| - GRCh37:
- Chr1:1469416
- GRCh38:
- Chr1:1534036
| ATAD3A | | not provided | Likely benign (Dec 1, 2018) | criteria provided, single submitter | VCV000806034 |
| - GRCh37:
- Chr1:1470853
- GRCh38:
- Chr1:1535473
| TMEM240 | S136R | not provided | Uncertain significance (Jun 1, 2019) | criteria provided, single submitter | VCV000806035 |
| - GRCh37:
- Chr1:1471078
- GRCh38:
- Chr1:1535698
| TMEM240 | | not provided | Uncertain significance (Oct 1, 2017) | criteria provided, single submitter | VCV000806036 |
| - GRCh37:
- Chr1:1475085
- GRCh38:
- Chr1:1539705
| TMEM240 | V48G | not provided | Uncertain significance (Oct 1, 2020) | criteria provided, single submitter | VCV001012720 |
| - GRCh37:
- Chr1:1586931
- GRCh38:
- Chr1:1655477
| CDK11B | D40G, D6G | Seizures | Uncertain significance (Jan 1, 2017) | criteria provided, single submitter | VCV000523444 |
| - GRCh37:
- Chr1:1720541
- GRCh38:
- Chr1:1789102
| GNB1 | | not provided | Uncertain significance (May 1, 2017) | criteria provided, single submitter | VCV000444148 |
| - GRCh37:
- Chr1:1720681
- GRCh38:
- Chr1:1789242
| GNB1 | T143A, T243A | Mental retardation, autosomal dominant 42 | Pathogenic (Feb 26, 2020) | no assertion criteria provided | VCV000995963 |
| - GRCh37:
- Chr1:1721951
- GRCh38:
- Chr1:1790512
| GNB1 | | not provided | Likely benign (Apr 1, 2018) | criteria provided, single submitter | VCV000806037 |
| - GRCh37:
- Chr1:1735941
- GRCh38:
- Chr1:1804502
| GNB1 | G116D, G16D | not provided | Likely pathogenic (Feb 1, 2021) | criteria provided, single submitter | VCV000996797 |
| - GRCh37:
- Chr1:1736001
- GRCh38:
- Chr1:1804562
| GNB1 | R96L | Mental retardation, autosomal dominant 42 | Pathogenic (Feb 26, 2020) | no assertion criteria provided | VCV000995962 |
| - GRCh37:
- Chr1:1756881
- GRCh38:
- Chr1:1825442
| GNB1 | | not provided | Likely benign (Dec 1, 2018) | criteria provided, single submitter | VCV000806038 |
| - GRCh37:
- Chr1:1956362
- GRCh38:
- Chr1:2024923
| GABRD | | not specified | Benign | criteria provided, single submitter | VCV000256824 |
| - GRCh37:
- Chr1:1956479
- GRCh38:
- Chr1:2025040
| GABRD | R56Q | not provided | Uncertain significance (May 1, 2016) | criteria provided, single submitter | VCV000806039 |
| - GRCh37:
- Chr1:1957044
- GRCh38:
- Chr1:2025605
| GABRD | S113G | Epilepsy, idiopathic generalized 10 | Uncertain significance (Aug 12, 2019) | criteria provided, single submitter | VCV000931155 |
| - GRCh37:
- Chr1:1960674
- GRCh38:
- Chr1:2029235
| GABRD | | not specified | Benign | criteria provided, single submitter | VCV000256825 |
| - GRCh37:
- Chr1:1961408
- GRCh38:
- Chr1:2029969
| GABRD | | not specified | Benign | criteria provided, single submitter | VCV000256822 |
| - GRCh37:
- Chr1:2116433
- GRCh38:
- Chr1:2184994
| PRKCZ, FAAP20 | | not provided | Benign (Dec 31, 2019) | criteria provided, single submitter | VCV000723573 |
| - GRCh37:
- Chr1:2160368
- GRCh38:
- Chr1:2228929
| SKI | A55P | not provided | Uncertain significance (Mar 11, 2018) | criteria provided, single submitter | VCV000978540 |
| - GRCh37:
- Chr1:2160700
- GRCh38:
- Chr1:2229261
| SKI | | not specified | Likely benign | criteria provided, single submitter | VCV000258901 |
| - GRCh37:
- Chr1:2234472
- GRCh38:
- Chr1:2303033
| SKI | Q342R | not provided | Uncertain significance (Oct 1, 2017) | criteria provided, single submitter | VCV000493014 |
| - GRCh37:
- Chr1:2234752
- GRCh38:
- Chr1:2303313
| SKI | R375H | not provided | Uncertain significance (Jun 1, 2017) | criteria provided, single submitter | VCV000444150 |
| - GRCh37:
- Chr1:2234756
- GRCh38:
- Chr1:2303317
| SKI | | not provided | Likely benign (Apr 1, 2020) | criteria provided, single submitter | VCV000932318 |
| - GRCh37:
- Chr1:2235384
- GRCh38:
- Chr1:2303945
| SKI | | Shprintzen-Goldberg syndrome | Likely benign (May 23, 2019) | criteria provided, single submitter | VCV000811441 |
| - GRCh37:
- Chr1:2235403
- GRCh38:
- Chr1:2303964
| SKI | L446F | not provided | Uncertain significance (Mar 5, 2019) | criteria provided, single submitter | VCV000636979 |
| - GRCh37:
- Chr1:2235506
- GRCh38:
- Chr1:2304067
| SKI | S480L | Intellectual disability, Joint laxity | Uncertain significance (Jul 19, 2019) | criteria provided, single submitter | VCV000992795 |
| - GRCh37:
- Chr1:2235944
- GRCh38:
- Chr1:2304505
| SKI | | not provided | Uncertain significance (Jun 1, 2020) | criteria provided, single submitter | VCV000932319 |
| - GRCh37:
- Chr1:2237659
- GRCh38:
- Chr1:2306220
| SKI | | not provided | Likely benign (Jul 1, 2017) | criteria provided, single submitter | VCV000493015 |
| - GRCh37:
- Chr1:2237685
- GRCh38:
- Chr1:2306246
| SKI | A665V | not provided | Uncertain significance (Jul 1, 2018) | criteria provided, single submitter | VCV000623666 |
| - GRCh37:
- Chr1:2238074
- GRCh38:
- Chr1:2306635
| SKI | A686V | not provided | Uncertain significance (Apr 1, 2020) | criteria provided, single submitter | VCV000932320 |
| - GRCh37:
- Chr1:2336254
- GRCh38:
- Chr1:2404815
| PEX10, RER1 | | Peroxisome biogenesis disorder 6A | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter | VCV000876385 |
| - GRCh37:
- Chr1:2336300
- GRCh38:
- Chr1:2404861
| PEX10, RER1 | | Peroxisome biogenesis disorder 6A | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter | VCV000876386 |
| - GRCh37:
- Chr1:2336351
- GRCh38:
- Chr1:2404912
| PEX10, RER1 | | Peroxisome biogenesis disorder 6A | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter | VCV000296252 |
| - GRCh37:
- Chr1:2336367
- GRCh38:
- Chr1:2404928
| PEX10, RER1 | | Peroxisome biogenesis disorder 6A | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter | VCV000296253 |
| - GRCh37:
- Chr1:2336370
- GRCh38:
- Chr1:2404931
| PEX10, RER1 | | Peroxisome biogenesis disorder 6A | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter | VCV000296254 |
| - GRCh37:
- Chr1:2336381
- GRCh38:
- Chr1:2404942
| PEX10, RER1 | | Peroxisome biogenesis disorder 6A | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter | VCV000874434 |
| - GRCh37:
- Chr1:2336407
- GRCh38:
- Chr1:2404968
| RER1, PEX10 | | Peroxisome biogenesis disorder 6A | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter | VCV000296255 |
| - GRCh37:
- Chr1:2336423
- GRCh38:
- Chr1:2404984
| PEX10, RER1 | | Peroxisome biogenesis disorder 6A | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter | VCV000296256 |
| - GRCh37:
- Chr1:2336460-2336461
- GRCh38:
- Chr1:2405021-2405022
| PEX10, RER1 | | Peroxisome biogenesis disorder 1A (Zellweger) | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter | VCV000296257 |
| - GRCh37:
- Chr1:2336473
- GRCh38:
- Chr1:2405034
| PEX10, RER1 | | Peroxisome biogenesis disorder 6A | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter | VCV000296258 |
| - GRCh37:
- Chr1:2336517
- GRCh38:
- Chr1:2405078
| PEX10, RER1 | | Peroxisome biogenesis disorder 6A | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter | VCV000296259 |
| - GRCh37:
- Chr1:2336519
- GRCh38:
- Chr1:2405080
| PEX10, RER1 | | Peroxisome biogenesis disorder 6A | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter | VCV000875341 |
| - GRCh37:
- Chr1:2336529
- GRCh38:
- Chr1:2405090
| RER1, PEX10 | | Peroxisome biogenesis disorder 6A | Likely benign (Jan 13, 2018) | criteria provided, single submitter | VCV000875342 |
| - GRCh37:
- Chr1:2336562
- GRCh38:
- Chr1:2405123
| PEX10, RER1 | | Peroxisome biogenesis disorder 6A | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter | VCV000875343 |
| - GRCh37:
- Chr1:2336578
- GRCh38:
- Chr1:2405139
| PEX10, RER1 | | Peroxisome biogenesis disorder 6A | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter | VCV000296260 |
| - GRCh37:
- Chr1:2336610
- GRCh38:
- Chr1:2405171
| PEX10, RER1 | | Peroxisome biogenesis disorder 6A | Likely benign (Jan 12, 2018) | criteria provided, single submitter | VCV000875344 |
| - GRCh37:
- Chr1:2336611
- GRCh38:
- Chr1:2405172
| PEX10, RER1 | | Peroxisome biogenesis disorder 6A | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter | VCV000296261 |
| - GRCh37:
- Chr1:2336706
- GRCh38:
- Chr1:2405267
| PEX10, RER1 | | Peroxisome biogenesis disorder 6A | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter | VCV000296262 |
| - GRCh37:
- Chr1:2336760
- GRCh38:
- Chr1:2405321
| RER1, PEX10 | | Peroxisome biogenesis disorder 6A | Uncertain significance (Jan 22, 2018) | criteria provided, single submitter | VCV000875345 |
| - GRCh37:
- Chr1:2336785
- GRCh38:
- Chr1:2405346
| RER1, PEX10 | | Peroxisome biogenesis disorder 6A | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter | VCV000296263 |
| - GRCh37:
- Chr1:2336795
- GRCh38:
- Chr1:2405356
| PEX10, RER1 | | Peroxisome biogenesis disorder 6A | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter | VCV000296264 |
| - GRCh37:
- Chr1:2336804
- GRCh38:
- Chr1:2405365
| PEX10, RER1 | | Peroxisome biogenesis disorder 6A | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter | VCV000875398 |
| - GRCh37:
- Chr1:2336853
- GRCh38:
- Chr1:2405414
| PEX10, RER1 | | Peroxisome biogenesis disorder 6A | Benign (Jan 13, 2018) | criteria provided, single submitter | VCV000296265 |
| - GRCh37:
- Chr1:2337282
- GRCh38:
- Chr1:2405843
| PEX10 | | Zellweger syndrome | Uncertain significance (Aug 17, 2020) | no assertion criteria provided | VCV000991788 |
| - GRCh37:
- Chr1:2338295
- GRCh38:
- Chr1:2406856
| PEX10 | R234C, R214C | Zellweger syndrome, not provided | Uncertain significance (Sep 5, 2017) | criteria provided, single submitter | VCV000446046 |
| - GRCh37:
- Chr1:2338337
- GRCh38:
- Chr1:2406898
| PEX10 | Q219E, Q220E, Q75E | Zellweger syndrome | Uncertain significance (Aug 13, 2020) | no assertion criteria provided | VCV000991789 |
| - GRCh37:
- Chr1:2339958
- GRCh38:
- Chr1:2408519
| PEX10 | H178R, H34R | Zellweger syndrome | Uncertain significance (Aug 5, 2020) | no assertion criteria provided | VCV000991790 |
| - GRCh37:
- Chr1:2343861
- GRCh38:
- Chr1:2412422
| PEX10 | S27R | Zellweger syndrome | Uncertain significance (Sep 4, 2020) | no assertion criteria provided | VCV000991791 |
| - GRCh37:
- Chr1:2343892
- GRCh38:
- Chr1:2412453
| PEX10 | K17R | Peroxisome biogenesis disorder 6A | Uncertain significance (Apr 25, 2019) | criteria provided, single submitter | VCV000930457 |
| - GRCh37:
- Chr1:2343922
- GRCh38:
- Chr1:2412483
| PEX10, PLCH2 | S7fs | Peroxisome biogenesis disorder 6A, Peroxisome biogenesis disorder 6B | Likely pathogenic (Oct 30, 2017) | criteria provided, single submitter | VCV000554655 |
| - GRCh37:
- Chr1:2343936
- GRCh38:
- Chr1:2412497
| PEX10, PLCH2 | | Peroxisome biogenesis disorder 6A, not provided, not specified
| Benign/Likely benign (Jan 13, 2018) | criteria provided, multiple submitters, no conflicts | VCV000284321 |
| - GRCh37:
- Chr1:2343938
- GRCh38:
- Chr1:2412499
| PEX10, PLCH2 | A2fs | Peroxisome biogenesis disorder 6B, Zellweger syndrome, Peroxisome biogenesis disorders, Zellweger syndrome spectrum, not provided | Pathogenic (Jan 11, 2021) | criteria provided, multiple submitters, no conflicts | VCV000449304 |
| - GRCh37:
- Chr1:2343940
- GRCh38:
- Chr1:2412501
| PEX10, PLCH2 | M1T | Peroxisome biogenesis disorder 6A, Peroxisome biogenesis disorder 6B, Peroxisome biogenesis disorder 6B
| Pathogenic (Feb 24, 2017) | criteria provided, single submitter | VCV000162434 |
| - GRCh37:
- Chr1:2343941
- GRCh38:
- Chr1:2412502
| PEX10, PLCH2 | M1V | Peroxisome biogenesis disorder 6A, Peroxisome biogenesis disorder 6B, not provided
| Pathogenic/Likely pathogenic (Feb 15, 2018) | criteria provided, multiple submitters, no conflicts | VCV000280002 |
| - GRCh37:
- Chr1:2343944
- GRCh38:
- Chr1:2412505
| PEX10, PLCH2 | | not provided | Uncertain significance (Sep 1, 2017) | criteria provided, single submitter | VCV000593899 |
| - GRCh37:
- Chr1:2343950
- GRCh38:
- Chr1:2412511
| PEX10, PLCH2 | | Peroxisome biogenesis disorder 6A | Uncertain significance (Apr 27, 2017) | criteria provided, single submitter | VCV000873587 |
| - GRCh37:
- Chr1:2343959
- GRCh38:
- Chr1:2412520
| PEX10, PLCH2 | | Peroxisome biogenesis disorder 6A | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter | VCV000873588 |
| - GRCh37:
- Chr1:2343992-2343993
- GRCh38:
- Chr1:2412553-2412554
| PEX10, PLCH2 | | Peroxisome biogenesis disorder 1A (Zellweger) | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter | VCV000296284 |
| - GRCh37:
- Chr1:2344018
- GRCh38:
- Chr1:2412579
| PEX10, PLCH2 | | Peroxisome biogenesis disorder 6A | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter | VCV000874591 |