| - GRCh37:
- Chr11:71148910
- GRCh38:
- Chr11:71437864
| DHCR7 | W304* | Smith-Lemli-Opitz syndrome | Pathogenic (May 7, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:71155261
- GRCh38:
- Chr11:71444215
| DHCR7 | W33* | Smith-Lemli-Opitz syndrome | Likely pathogenic (Mar 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:71152249-71153318
| DHCR7 | | Smith-Lemli-Opitz syndrome | Pathogenic (Jan 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:71146674-71155299
| DHCR7 | | Smith-Lemli-Opitz syndrome | Pathogenic (Aug 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:71148848-71148999
| DHCR7 | | Smith-Lemli-Opitz syndrome | Pathogenic (Mar 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:71153391
- GRCh38:
- Chr11:71442345
| DHCR7 | | Smith-Lemli-Opitz syndrome | Likely benign (Jan 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:71152411
- GRCh38:
- Chr11:71441365
| DHCR7 | H163R | Smith-Lemli-Opitz syndrome | Uncertain significance (Dec 15, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:71152270
- GRCh38:
- Chr11:71441224
| DHCR7 | | Smith-Lemli-Opitz syndrome | Uncertain significance (Aug 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:71149952
- GRCh38:
- Chr11:71438906
| DHCR7 | | Smith-Lemli-Opitz syndrome | Likely benign (May 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:71150080
- GRCh38:
- Chr11:71439034
| DHCR7 | N226D | Smith-Lemli-Opitz syndrome | Uncertain significance (Apr 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:71155130
- GRCh38:
- Chr11:71444084
| DHCR7 | T77I | Smith-Lemli-Opitz syndrome | Uncertain significance (Aug 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:71146853
- GRCh38:
- Chr11:71435807
| DHCR7 | | Smith-Lemli-Opitz syndrome | Likely benign (Jul 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:71146677
- GRCh38:
- Chr11:71435631
| DHCR7 | H391P | Smith-Lemli-Opitz syndrome | Uncertain significance (Apr 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:71146613
- GRCh38:
- Chr11:71435567
| DHCR7 | | Smith-Lemli-Opitz syndrome | Likely benign (Aug 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:71155212
- GRCh38:
- Chr11:71444166
| DHCR7 | A50T | Smith-Lemli-Opitz syndrome | Uncertain significance (Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:71152424
- GRCh38:
- Chr11:71441378
| DHCR7 | F159L | Smith-Lemli-Opitz syndrome | Uncertain significance (Jun 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:71146501
- GRCh38:
- Chr11:71435455
| DHCR7 | R450C | Smith-Lemli-Opitz syndrome | Likely pathogenic (Aug 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:71146892
- GRCh38:
- Chr11:71435846
| DHCR7 | | Smith-Lemli-Opitz syndrome | Likely benign (Aug 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:71152494
- GRCh38:
- Chr11:71441448
| DHCR7 | | Smith-Lemli-Opitz syndrome | Likely benign (Jun 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:71146808
- GRCh38:
- Chr11:71435762
| DHCR7 | | Smith-Lemli-Opitz syndrome | Likely benign (Oct 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:71155237
- GRCh38:
- Chr11:71444191
| DHCR7 | | Smith-Lemli-Opitz syndrome | Likely benign (Jan 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:71155273
- GRCh38:
- Chr11:71444227
| DHCR7 | | Smith-Lemli-Opitz syndrome | Likely benign (Oct 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:71148894
- GRCh38:
- Chr11:71437848
| DHCR7 | | Smith-Lemli-Opitz syndrome | Likely benign (Nov 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:71155280
- GRCh38:
- Chr11:71444234
| DHCR7 | | Smith-Lemli-Opitz syndrome | Likely benign (May 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:71146892
- GRCh38:
- Chr11:71435846
| DHCR7 | | Smith-Lemli-Opitz syndrome | Likely benign (Aug 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:71150098
- GRCh38:
- Chr11:71439052
| DHCR7 | M220V | Smith-Lemli-Opitz syndrome | Uncertain significance (May 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:71152460-71152461
- GRCh38:
- Chr11:71441414-71441415
| DHCR7 | G147S | Smith-Lemli-Opitz syndrome | Uncertain significance (May 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:71152403
- GRCh38:
- Chr11:71441357
| DHCR7 | S166A | Smith-Lemli-Opitz syndrome | Uncertain significance (Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:71146619
- GRCh38:
- Chr11:71435573
| DHCR7 | | Smith-Lemli-Opitz syndrome | Likely benign (Sep 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:71155111
- GRCh38:
- Chr11:71444065
| DHCR7 | | Smith-Lemli-Opitz syndrome | Likely benign (Aug 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:71153368
- GRCh38:
- Chr11:71442322
| DHCR7 | C118Y | Smith-Lemli-Opitz syndrome | Uncertain significance (Apr 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:71155239
- GRCh38:
- Chr11:71444193
| DHCR7 | A41P | Smith-Lemli-Opitz syndrome | Uncertain significance (Feb 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:71152256
- GRCh38:
- Chr11:71441210
| DHCR7 | | Smith-Lemli-Opitz syndrome | Likely benign (May 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:71148869
- GRCh38:
- Chr11:71437823
| DHCR7 | Y318H | Smith-Lemli-Opitz syndrome | Likely pathogenic (Aug 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:71150069
- GRCh38:
- Chr11:71439023
| DHCR7 | | Smith-Lemli-Opitz syndrome | Likely benign (Jul 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:71146848
- GRCh38:
- Chr11:71435802
| DHCR7 | T334I | Smith-Lemli-Opitz syndrome | Uncertain significance (Oct 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:71155985
- GRCh38:
- Chr11:71444939
| DHCR7 | S5W | Smith-Lemli-Opitz syndrome | Uncertain significance (Feb 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:71152366
- GRCh38:
- Chr11:71441320
| DHCR7 | I178N | Smith-Lemli-Opitz syndrome | Likely pathogenic (Feb 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:71150073
- GRCh38:
- Chr11:71439027
| DHCR7 | R228Q | Smith-Lemli-Opitz syndrome | Likely pathogenic (Apr 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:71150021-71150036
- GRCh38:
- Chr11:71438975-71438990
| DHCR7 | N240fs | Smith-Lemli-Opitz syndrome | Pathogenic (Jul 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:71149938
- GRCh38:
- Chr11:71438892
| DHCR7 | V273G | not specified, Smith-Lemli-Opitz syndrome | Conflicting interpretations of pathogenicity (May 30, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:71148965-71148967
- GRCh38:
- Chr11:71437919-71437921
| DHCR7 | F285del | Smith-Lemli-Opitz syndrome | Uncertain significance (Apr 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:71146810
- GRCh38:
- Chr11:71435764
| DHCR7 | G347S | Smith-Lemli-Opitz syndrome | Pathogenic (Jun 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:71146452
- GRCh38:
- Chr11:71435406
| DHCR7 | V466A | Smith-Lemli-Opitz syndrome | Likely pathogenic (Aug 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:71146736
- GRCh38:
- Chr11:71435690
| DHCR7 | W371* | Smith-Lemli-Opitz syndrome | Pathogenic (May 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:71148879
- GRCh38:
- Chr11:71437833
| DHCR7 | | Smith-Lemli-Opitz syndrome | Likely benign (Apr 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:71146490
- GRCh38:
- Chr11:71435444
| DHCR7 | | Smith-Lemli-Opitz syndrome | Uncertain significance (Apr 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:71155252
- GRCh38:
- Chr11:71444206
| DHCR7 | | Smith-Lemli-Opitz syndrome | Likely benign (Apr 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:71146673
- GRCh38:
- Chr11:71435627
| DHCR7 | | Smith-Lemli-Opitz syndrome | Likely benign (Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:71152484
- GRCh38:
- Chr11:71441438
| DHCR7 | V139L | Smith-Lemli-Opitz syndrome | Uncertain significance (Aug 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:71146464
- GRCh38:
- Chr11:71435418
| DHCR7 | Y462C | Smith-Lemli-Opitz syndrome | Likely pathogenic (Mar 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:71155063
- GRCh38:
- Chr11:71444017
| DHCR7 | | Smith-Lemli-Opitz syndrome | Likely benign (Mar 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:71155255
- GRCh38:
- Chr11:71444209
| DHCR7 | | Smith-Lemli-Opitz syndrome | Likely benign (Jun 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:71149931
- GRCh38:
- Chr11:71438885
| DHCR7 | | Smith-Lemli-Opitz syndrome | Likely benign (Aug 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:71153307
- GRCh38:
- Chr11:71442261
| DHCR7 | | Smith-Lemli-Opitz syndrome | Likely pathogenic (Mar 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:71150039
- GRCh38:
- Chr11:71438993
| DHCR7 | | Smith-Lemli-Opitz syndrome | Likely benign (Mar 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:71146837
- GRCh38:
- Chr11:71435791
| DHCR7 | V338fs | Smith-Lemli-Opitz syndrome | Pathogenic (Mar 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:71155061
- GRCh38:
- Chr11:71444015
| DHCR7 | Y100C | Smith-Lemli-Opitz syndrome | Uncertain significance (Sep 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:71150120
- GRCh38:
- Chr11:71439074
| DHCR7 | | Smith-Lemli-Opitz syndrome | Likely benign (Sep 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:71150110
- GRCh38:
- Chr11:71439064
| DHCR7 | F216V | Smith-Lemli-Opitz syndrome | Uncertain significance (Jul 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:71146635
- GRCh38:
- Chr11:71435589
| DHCR7 | H405fs | Smith-Lemli-Opitz syndrome | Pathogenic (Sep 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:71146634
- GRCh38:
- Chr11:71435588
| DHCR7 | H405Q | Smith-Lemli-Opitz syndrome | Uncertain significance (Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:71149009
- GRCh38:
- Chr11:71437963
| DHCR7 | | Smith-Lemli-Opitz syndrome | Likely benign (Aug 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:71146845
- GRCh38:
- Chr11:71435799
| DHCR7 | P335L | Smith-Lemli-Opitz syndrome | Uncertain significance (Oct 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:71148986
- GRCh38:
- Chr11:71437940
| DHCR7 | I279V | Smith-Lemli-Opitz syndrome | Uncertain significance (Oct 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:71148893
- GRCh38:
- Chr11:71437847
| DHCR7 | D310N | Smith-Lemli-Opitz syndrome | Uncertain significance (Oct 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:71146645
- GRCh38:
- Chr11:71435599
| DHCR7 | V402M | Smith-Lemli-Opitz syndrome | Likely benign (Aug 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:71155882
- GRCh38:
- Chr11:71444836
| DHCR7 | | Smith-Lemli-Opitz syndrome | Likely benign (Nov 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:71146637
- GRCh38:
- Chr11:71435591
| DHCR7 | | Smith-Lemli-Opitz syndrome | Likely benign (Dec 23, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:71149977
- GRCh38:
- Chr11:71438931
| DHCR7 | R260Q | Smith-Lemli-Opitz syndrome | Uncertain significance (Jun 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:71148972
- GRCh38:
- Chr11:71437926
| DHCR7 | | Smith-Lemli-Opitz syndrome | Likely benign (Dec 22, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:71153394
- GRCh38:
- Chr11:71442348
| DHCR7 | | Smith-Lemli-Opitz syndrome | Likely benign (Dec 22, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:71146693
- GRCh38:
- Chr11:71435647
| DHCR7 | D386H | Smith-Lemli-Opitz syndrome | Uncertain significance (Jan 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:71146470
- GRCh38:
- Chr11:71435424
| DHCR7 | E460G | Smith-Lemli-Opitz syndrome, Inborn genetic diseases | Uncertain significance (Apr 5, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:71155140
- GRCh38:
- Chr11:71444094
| DHCR7 | D74N | Smith-Lemli-Opitz syndrome | Uncertain significance (Aug 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:71150031
- GRCh38:
- Chr11:71438985
| DHCR7 | R242P | Smith-Lemli-Opitz syndrome | Likely pathogenic (Oct 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:71146742
- GRCh38:
- Chr11:71435696
| DHCR7 | | Smith-Lemli-Opitz syndrome | Likely benign (Oct 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:71146655
- GRCh38:
- Chr11:71435609
| DHCR7 | | Smith-Lemli-Opitz syndrome | Likely benign (Oct 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:71152353
- GRCh38:
- Chr11:71441307
| DHCR7 | W182C | Smith-Lemli-Opitz syndrome | Likely pathogenic (Oct 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:71152425
- GRCh38:
- Chr11:71441379
| DHCR7 | W158* | Smith-Lemli-Opitz syndrome | Pathogenic (Sep 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:71146456
- GRCh38:
- Chr11:71435410
| DHCR7 | A465S | Smith-Lemli-Opitz syndrome | Uncertain significance (Jun 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:71152271
- GRCh38:
- Chr11:71441225
| DHCR7 | | Smith-Lemli-Opitz syndrome | Likely pathogenic (Sep 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:71146802
- GRCh38:
- Chr11:71435756
| DHCR7 | | Smith-Lemli-Opitz syndrome | Likely benign (Jul 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:71155269
- GRCh38:
- Chr11:71444223
| DHCR7 | | Smith-Lemli-Opitz syndrome | Likely benign (Jul 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:71146890
- GRCh38:
- Chr11:71435844
| DHCR7 | | Smith-Lemli-Opitz syndrome | Likely benign (Jun 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:71148996
- GRCh38:
- Chr11:71437950
| DHCR7 | | Smith-Lemli-Opitz syndrome | Likely benign (Jun 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:71146445
- GRCh38:
- Chr11:71435399
| DHCR7 | Y468* | Smith-Lemli-Opitz syndrome | Pathogenic (May 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:71155966
- GRCh38:
- Chr11:71444920
| DHCR7 | | Smith-Lemli-Opitz syndrome | Likely benign (May 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:71155889
- GRCh38:
- Chr11:71444843
| DHCR7 | | Smith-Lemli-Opitz syndrome | Likely benign (Apr 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:71155265
- GRCh38:
- Chr11:71444219
| DHCR7 | | Smith-Lemli-Opitz syndrome | Likely benign (Aug 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:71152290
- GRCh38:
- Chr11:71441244
| DHCR7 | | Smith-Lemli-Opitz syndrome | Likely benign (May 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:71146809
- GRCh38:
- Chr11:71435763
| DHCR7 | G347V | Smith-Lemli-Opitz syndrome | Likely pathogenic (Sep 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:71150045
- GRCh38:
- Chr11:71438999
| DHCR7 | | Smith-Lemli-Opitz syndrome | Likely benign (Sep 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:71152287
- GRCh38:
- Chr11:71441241
| DHCR7 | | Smith-Lemli-Opitz syndrome | Likely benign (Jul 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:71146476
- GRCh38:
- Chr11:71435430
| DHCR7 | D458G | Smith-Lemli-Opitz syndrome | Uncertain significance (Aug 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:71153417
- GRCh38:
- Chr11:71442371
| DHCR7 | | Smith-Lemli-Opitz syndrome | Likely benign (Dec 6, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:71153301
- GRCh38:
- Chr11:71442255
| DHCR7 | | Smith-Lemli-Opitz syndrome | Likely benign (Apr 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:71155921-71155951
- GRCh38:
- Chr11:71444875-71444905
| DHCR7 | D16fs | Smith-Lemli-Opitz syndrome | Pathogenic (Jul 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:71153343
- GRCh38:
- Chr11:71442297
| DHCR7 | | Smith-Lemli-Opitz syndrome | Likely benign (Mar 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:71155168
- GRCh38:
- Chr11:71444122
| DHCR7 | | Smith-Lemli-Opitz syndrome | Likely benign (Jan 11, 2022) | criteria provided, single submitter |