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Links from MedGen

Items: 1 to 100 of 684

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr11:71148910
GRCh38:
Chr11:71437864
DHCR7W304*Smith-Lemli-Opitz syndromePathogenic
(May 7, 2021)
criteria provided, single submitter
2.
GRCh37:
Chr11:71155261
GRCh38:
Chr11:71444215
DHCR7W33*Smith-Lemli-Opitz syndromeLikely pathogenic
(Mar 17, 2022)
criteria provided, single submitter
3.
GRCh37:
Chr11:71152249-71153318
DHCR7Smith-Lemli-Opitz syndromePathogenic
(Jan 3, 2022)
criteria provided, single submitter
4.
GRCh37:
Chr11:71146674-71155299
DHCR7Smith-Lemli-Opitz syndromePathogenic
(Aug 13, 2022)
criteria provided, single submitter
5.
GRCh37:
Chr11:71148848-71148999
DHCR7Smith-Lemli-Opitz syndromePathogenic
(Mar 17, 2022)
criteria provided, single submitter
6.
GRCh37:
Chr11:71153391
GRCh38:
Chr11:71442345
DHCR7Smith-Lemli-Opitz syndromeLikely benign
(Jan 6, 2022)
criteria provided, single submitter
7.
GRCh37:
Chr11:71152411
GRCh38:
Chr11:71441365
DHCR7H163RSmith-Lemli-Opitz syndromeUncertain significance
(Dec 15, 2021)
criteria provided, single submitter
8.
GRCh37:
Chr11:71152270
GRCh38:
Chr11:71441224
DHCR7Smith-Lemli-Opitz syndromeUncertain significance
(Aug 31, 2022)
criteria provided, single submitter
9.
GRCh37:
Chr11:71149952
GRCh38:
Chr11:71438906
DHCR7Smith-Lemli-Opitz syndromeLikely benign
(May 22, 2022)
criteria provided, single submitter
10.
GRCh37:
Chr11:71150080
GRCh38:
Chr11:71439034
DHCR7N226DSmith-Lemli-Opitz syndromeUncertain significance
(Apr 10, 2022)
criteria provided, single submitter
11.
GRCh37:
Chr11:71155130
GRCh38:
Chr11:71444084
DHCR7T77ISmith-Lemli-Opitz syndromeUncertain significance
(Aug 19, 2022)
criteria provided, single submitter
12.
GRCh37:
Chr11:71146853
GRCh38:
Chr11:71435807
DHCR7Smith-Lemli-Opitz syndromeLikely benign
(Jul 27, 2022)
criteria provided, single submitter
13.
GRCh37:
Chr11:71146677
GRCh38:
Chr11:71435631
DHCR7H391PSmith-Lemli-Opitz syndromeUncertain significance
(Apr 29, 2022)
criteria provided, single submitter
14.
GRCh37:
Chr11:71146613
GRCh38:
Chr11:71435567
DHCR7Smith-Lemli-Opitz syndromeLikely benign
(Aug 20, 2022)
criteria provided, single submitter
15.
GRCh37:
Chr11:71155212
GRCh38:
Chr11:71444166
DHCR7A50TSmith-Lemli-Opitz syndromeUncertain significance
(Aug 16, 2022)
criteria provided, single submitter
16.
GRCh37:
Chr11:71152424
GRCh38:
Chr11:71441378
DHCR7F159LSmith-Lemli-Opitz syndromeUncertain significance
(Jun 10, 2022)
criteria provided, single submitter
17.
GRCh37:
Chr11:71146501
GRCh38:
Chr11:71435455
DHCR7R450CSmith-Lemli-Opitz syndromeLikely pathogenic
(Aug 21, 2022)
criteria provided, single submitter
18.
GRCh37:
Chr11:71146892
GRCh38:
Chr11:71435846
DHCR7Smith-Lemli-Opitz syndromeLikely benign
(Aug 9, 2022)
criteria provided, single submitter
19.
GRCh37:
Chr11:71152494
GRCh38:
Chr11:71441448
DHCR7Smith-Lemli-Opitz syndromeLikely benign
(Jun 29, 2022)
criteria provided, single submitter
20.
GRCh37:
Chr11:71146808
GRCh38:
Chr11:71435762
DHCR7Smith-Lemli-Opitz syndromeLikely benign
(Oct 7, 2022)
criteria provided, single submitter
21.
GRCh37:
Chr11:71155237
GRCh38:
Chr11:71444191
DHCR7Smith-Lemli-Opitz syndromeLikely benign
(Jan 15, 2022)
criteria provided, single submitter
22.
GRCh37:
Chr11:71155273
GRCh38:
Chr11:71444227
DHCR7Smith-Lemli-Opitz syndromeLikely benign
(Oct 13, 2022)
criteria provided, single submitter
23.
GRCh37:
Chr11:71148894
GRCh38:
Chr11:71437848
DHCR7Smith-Lemli-Opitz syndromeLikely benign
(Nov 2, 2022)
criteria provided, single submitter
24.
GRCh37:
Chr11:71155280
GRCh38:
Chr11:71444234
DHCR7Smith-Lemli-Opitz syndromeLikely benign
(May 16, 2022)
criteria provided, single submitter
25.
GRCh37:
Chr11:71146892
GRCh38:
Chr11:71435846
DHCR7Smith-Lemli-Opitz syndromeLikely benign
(Aug 24, 2022)
criteria provided, single submitter
26.
GRCh37:
Chr11:71150098
GRCh38:
Chr11:71439052
DHCR7M220VSmith-Lemli-Opitz syndromeUncertain significance
(May 24, 2022)
criteria provided, single submitter
27.
GRCh37:
Chr11:71152460-71152461
GRCh38:
Chr11:71441414-71441415
DHCR7G147SSmith-Lemli-Opitz syndromeUncertain significance
(May 3, 2022)
criteria provided, single submitter
28.
GRCh37:
Chr11:71152403
GRCh38:
Chr11:71441357
DHCR7S166ASmith-Lemli-Opitz syndromeUncertain significance
(Aug 16, 2022)
criteria provided, single submitter
29.
GRCh37:
Chr11:71146619
GRCh38:
Chr11:71435573
DHCR7Smith-Lemli-Opitz syndromeLikely benign
(Sep 8, 2022)
criteria provided, single submitter
30.
GRCh37:
Chr11:71155111
GRCh38:
Chr11:71444065
DHCR7Smith-Lemli-Opitz syndromeLikely benign
(Aug 22, 2022)
criteria provided, single submitter
31.
GRCh37:
Chr11:71153368
GRCh38:
Chr11:71442322
DHCR7C118YSmith-Lemli-Opitz syndromeUncertain significance
(Apr 9, 2022)
criteria provided, single submitter
32.
GRCh37:
Chr11:71155239
GRCh38:
Chr11:71444193
DHCR7A41PSmith-Lemli-Opitz syndromeUncertain significance
(Feb 4, 2022)
criteria provided, single submitter
33.
GRCh37:
Chr11:71152256
GRCh38:
Chr11:71441210
DHCR7Smith-Lemli-Opitz syndromeLikely benign
(May 5, 2022)
criteria provided, single submitter
34.
GRCh37:
Chr11:71148869
GRCh38:
Chr11:71437823
DHCR7Y318HSmith-Lemli-Opitz syndromeLikely pathogenic
(Aug 15, 2022)
criteria provided, single submitter
35.
GRCh37:
Chr11:71150069
GRCh38:
Chr11:71439023
DHCR7Smith-Lemli-Opitz syndromeLikely benign
(Jul 18, 2022)
criteria provided, single submitter
36.
GRCh37:
Chr11:71146848
GRCh38:
Chr11:71435802
DHCR7T334ISmith-Lemli-Opitz syndromeUncertain significance
(Oct 17, 2022)
criteria provided, single submitter
37.
GRCh37:
Chr11:71155985
GRCh38:
Chr11:71444939
DHCR7S5WSmith-Lemli-Opitz syndromeUncertain significance
(Feb 28, 2022)
criteria provided, single submitter
38.
GRCh37:
Chr11:71152366
GRCh38:
Chr11:71441320
DHCR7I178NSmith-Lemli-Opitz syndromeLikely pathogenic
(Feb 6, 2022)
criteria provided, single submitter
39.
GRCh37:
Chr11:71150073
GRCh38:
Chr11:71439027
DHCR7R228QSmith-Lemli-Opitz syndromeLikely pathogenic
(Apr 21, 2022)
criteria provided, single submitter
40.
GRCh37:
Chr11:71150021-71150036
GRCh38:
Chr11:71438975-71438990
DHCR7N240fsSmith-Lemli-Opitz syndromePathogenic
(Jul 14, 2022)
criteria provided, single submitter
41.
GRCh37:
Chr11:71149938
GRCh38:
Chr11:71438892
DHCR7V273Gnot specified, Smith-Lemli-Opitz syndromeConflicting interpretations of pathogenicity
(May 30, 2023)
criteria provided, conflicting interpretations
42.
GRCh37:
Chr11:71148965-71148967
GRCh38:
Chr11:71437919-71437921
DHCR7F285delSmith-Lemli-Opitz syndromeUncertain significance
(Apr 19, 2022)
criteria provided, single submitter
43.
GRCh37:
Chr11:71146810
GRCh38:
Chr11:71435764
DHCR7G347SSmith-Lemli-Opitz syndromePathogenic
(Jun 17, 2022)
criteria provided, single submitter
44.
GRCh37:
Chr11:71146452
GRCh38:
Chr11:71435406
DHCR7V466ASmith-Lemli-Opitz syndromeLikely pathogenic
(Aug 10, 2022)
criteria provided, single submitter
45.
GRCh37:
Chr11:71146736
GRCh38:
Chr11:71435690
DHCR7W371*Smith-Lemli-Opitz syndromePathogenic
(May 13, 2022)
criteria provided, single submitter
46.
GRCh37:
Chr11:71148879
GRCh38:
Chr11:71437833
DHCR7Smith-Lemli-Opitz syndromeLikely benign
(Apr 23, 2022)
criteria provided, single submitter
47.
GRCh37:
Chr11:71146490
GRCh38:
Chr11:71435444
DHCR7Smith-Lemli-Opitz syndromeUncertain significance
(Apr 18, 2022)
criteria provided, single submitter
48.
GRCh37:
Chr11:71155252
GRCh38:
Chr11:71444206
DHCR7Smith-Lemli-Opitz syndromeLikely benign
(Apr 10, 2022)
criteria provided, single submitter
49.
GRCh37:
Chr11:71146673
GRCh38:
Chr11:71435627
DHCR7Smith-Lemli-Opitz syndromeLikely benign
(Aug 16, 2022)
criteria provided, single submitter
50.
GRCh37:
Chr11:71152484
GRCh38:
Chr11:71441438
DHCR7V139LSmith-Lemli-Opitz syndromeUncertain significance
(Aug 20, 2022)
criteria provided, single submitter
51.
GRCh37:
Chr11:71146464
GRCh38:
Chr11:71435418
DHCR7Y462CSmith-Lemli-Opitz syndromeLikely pathogenic
(Mar 29, 2022)
criteria provided, single submitter
52.
GRCh37:
Chr11:71155063
GRCh38:
Chr11:71444017
DHCR7Smith-Lemli-Opitz syndromeLikely benign
(Mar 26, 2022)
criteria provided, single submitter
53.
GRCh37:
Chr11:71155255
GRCh38:
Chr11:71444209
DHCR7Smith-Lemli-Opitz syndromeLikely benign
(Jun 21, 2022)
criteria provided, single submitter
54.
GRCh37:
Chr11:71149931
GRCh38:
Chr11:71438885
DHCR7Smith-Lemli-Opitz syndromeLikely benign
(Aug 22, 2022)
criteria provided, single submitter
55.
GRCh37:
Chr11:71153307
GRCh38:
Chr11:71442261
DHCR7Smith-Lemli-Opitz syndromeLikely pathogenic
(Mar 18, 2022)
criteria provided, single submitter
56.
GRCh37:
Chr11:71150039
GRCh38:
Chr11:71438993
DHCR7Smith-Lemli-Opitz syndromeLikely benign
(Mar 11, 2022)
criteria provided, single submitter
57.
GRCh37:
Chr11:71146837
GRCh38:
Chr11:71435791
DHCR7V338fsSmith-Lemli-Opitz syndromePathogenic
(Mar 9, 2022)
criteria provided, single submitter
58.
GRCh37:
Chr11:71155061
GRCh38:
Chr11:71444015
DHCR7Y100CSmith-Lemli-Opitz syndromeUncertain significance
(Sep 7, 2022)
criteria provided, single submitter
59.
GRCh37:
Chr11:71150120
GRCh38:
Chr11:71439074
DHCR7Smith-Lemli-Opitz syndromeLikely benign
(Sep 10, 2022)
criteria provided, single submitter
60.
GRCh37:
Chr11:71150110
GRCh38:
Chr11:71439064
DHCR7F216VSmith-Lemli-Opitz syndromeUncertain significance
(Jul 27, 2022)
criteria provided, single submitter
61.
GRCh37:
Chr11:71146635
GRCh38:
Chr11:71435589
DHCR7H405fsSmith-Lemli-Opitz syndromePathogenic
(Sep 7, 2022)
criteria provided, single submitter
62.
GRCh37:
Chr11:71146634
GRCh38:
Chr11:71435588
DHCR7H405QSmith-Lemli-Opitz syndromeUncertain significance
(Aug 16, 2022)
criteria provided, single submitter
63.
GRCh37:
Chr11:71149009
GRCh38:
Chr11:71437963
DHCR7Smith-Lemli-Opitz syndromeLikely benign
(Aug 28, 2022)
criteria provided, single submitter
64.
GRCh37:
Chr11:71146845
GRCh38:
Chr11:71435799
DHCR7P335LSmith-Lemli-Opitz syndromeUncertain significance
(Oct 7, 2022)
criteria provided, single submitter
65.
GRCh37:
Chr11:71148986
GRCh38:
Chr11:71437940
DHCR7I279VSmith-Lemli-Opitz syndromeUncertain significance
(Oct 3, 2022)
criteria provided, single submitter
66.
GRCh37:
Chr11:71148893
GRCh38:
Chr11:71437847
DHCR7D310NSmith-Lemli-Opitz syndromeUncertain significance
(Oct 17, 2022)
criteria provided, single submitter
67.
GRCh37:
Chr11:71146645
GRCh38:
Chr11:71435599
DHCR7V402MSmith-Lemli-Opitz syndromeLikely benign
(Aug 30, 2022)
criteria provided, single submitter
68.
GRCh37:
Chr11:71155882
GRCh38:
Chr11:71444836
DHCR7Smith-Lemli-Opitz syndromeLikely benign
(Nov 1, 2022)
criteria provided, single submitter
69.
GRCh37:
Chr11:71146637
GRCh38:
Chr11:71435591
DHCR7Smith-Lemli-Opitz syndromeLikely benign
(Dec 23, 2021)
criteria provided, single submitter
70.
GRCh37:
Chr11:71149977
GRCh38:
Chr11:71438931
DHCR7R260QSmith-Lemli-Opitz syndromeUncertain significance
(Jun 20, 2022)
criteria provided, single submitter
71.
GRCh37:
Chr11:71148972
GRCh38:
Chr11:71437926
DHCR7Smith-Lemli-Opitz syndromeLikely benign
(Dec 22, 2021)
criteria provided, single submitter
72.
GRCh37:
Chr11:71153394
GRCh38:
Chr11:71442348
DHCR7Smith-Lemli-Opitz syndromeLikely benign
(Dec 22, 2021)
criteria provided, single submitter
73.
GRCh37:
Chr11:71146693
GRCh38:
Chr11:71435647
DHCR7D386HSmith-Lemli-Opitz syndromeUncertain significance
(Jan 26, 2022)
criteria provided, single submitter
74.
GRCh37:
Chr11:71146470
GRCh38:
Chr11:71435424
DHCR7E460GSmith-Lemli-Opitz syndrome, Inborn genetic diseasesUncertain significance
(Apr 5, 2023)
criteria provided, multiple submitters, no conflicts
75.
GRCh37:
Chr11:71155140
GRCh38:
Chr11:71444094
DHCR7D74NSmith-Lemli-Opitz syndromeUncertain significance
(Aug 17, 2022)
criteria provided, single submitter
76.
GRCh37:
Chr11:71150031
GRCh38:
Chr11:71438985
DHCR7R242PSmith-Lemli-Opitz syndromeLikely pathogenic
(Oct 19, 2022)
criteria provided, single submitter
77.
GRCh37:
Chr11:71146742
GRCh38:
Chr11:71435696
DHCR7Smith-Lemli-Opitz syndromeLikely benign
(Oct 14, 2022)
criteria provided, single submitter
78.
GRCh37:
Chr11:71146655
GRCh38:
Chr11:71435609
DHCR7Smith-Lemli-Opitz syndromeLikely benign
(Oct 10, 2022)
criteria provided, single submitter
79.
GRCh37:
Chr11:71152353
GRCh38:
Chr11:71441307
DHCR7W182CSmith-Lemli-Opitz syndromeLikely pathogenic
(Oct 5, 2022)
criteria provided, single submitter
80.
GRCh37:
Chr11:71152425
GRCh38:
Chr11:71441379
DHCR7W158*Smith-Lemli-Opitz syndromePathogenic
(Sep 20, 2022)
criteria provided, single submitter
81.
GRCh37:
Chr11:71146456
GRCh38:
Chr11:71435410
DHCR7A465SSmith-Lemli-Opitz syndromeUncertain significance
(Jun 15, 2022)
criteria provided, single submitter
82.
GRCh37:
Chr11:71152271
GRCh38:
Chr11:71441225
DHCR7Smith-Lemli-Opitz syndromeLikely pathogenic
(Sep 14, 2022)
criteria provided, single submitter
83.
GRCh37:
Chr11:71146802
GRCh38:
Chr11:71435756
DHCR7Smith-Lemli-Opitz syndromeLikely benign
(Jul 13, 2022)
criteria provided, single submitter
84.
GRCh37:
Chr11:71155269
GRCh38:
Chr11:71444223
DHCR7Smith-Lemli-Opitz syndromeLikely benign
(Jul 10, 2022)
criteria provided, single submitter
85.
GRCh37:
Chr11:71146890
GRCh38:
Chr11:71435844
DHCR7Smith-Lemli-Opitz syndromeLikely benign
(Jun 13, 2022)
criteria provided, single submitter
86.
GRCh37:
Chr11:71148996
GRCh38:
Chr11:71437950
DHCR7Smith-Lemli-Opitz syndromeLikely benign
(Jun 8, 2022)
criteria provided, single submitter
87.
GRCh37:
Chr11:71146445
GRCh38:
Chr11:71435399
DHCR7Y468*Smith-Lemli-Opitz syndromePathogenic
(May 27, 2022)
criteria provided, single submitter
88.
GRCh37:
Chr11:71155966
GRCh38:
Chr11:71444920
DHCR7Smith-Lemli-Opitz syndromeLikely benign
(May 24, 2022)
criteria provided, single submitter
89.
GRCh37:
Chr11:71155889
GRCh38:
Chr11:71444843
DHCR7Smith-Lemli-Opitz syndromeLikely benign
(Apr 12, 2022)
criteria provided, single submitter
90.
GRCh37:
Chr11:71155265
GRCh38:
Chr11:71444219
DHCR7Smith-Lemli-Opitz syndromeLikely benign
(Aug 10, 2022)
criteria provided, single submitter
91.
GRCh37:
Chr11:71152290
GRCh38:
Chr11:71441244
DHCR7Smith-Lemli-Opitz syndromeLikely benign
(May 18, 2022)
criteria provided, single submitter
92.
GRCh37:
Chr11:71146809
GRCh38:
Chr11:71435763
DHCR7G347VSmith-Lemli-Opitz syndromeLikely pathogenic
(Sep 6, 2022)
criteria provided, single submitter
93.
GRCh37:
Chr11:71150045
GRCh38:
Chr11:71438999
DHCR7Smith-Lemli-Opitz syndromeLikely benign
(Sep 9, 2022)
criteria provided, single submitter
94.
GRCh37:
Chr11:71152287
GRCh38:
Chr11:71441241
DHCR7Smith-Lemli-Opitz syndromeLikely benign
(Jul 19, 2022)
criteria provided, single submitter
95.
GRCh37:
Chr11:71146476
GRCh38:
Chr11:71435430
DHCR7D458GSmith-Lemli-Opitz syndromeUncertain significance
(Aug 23, 2022)
criteria provided, single submitter
96.
GRCh37:
Chr11:71153417
GRCh38:
Chr11:71442371
DHCR7Smith-Lemli-Opitz syndromeLikely benign
(Dec 6, 2021)
criteria provided, single submitter
97.
GRCh37:
Chr11:71153301
GRCh38:
Chr11:71442255
DHCR7Smith-Lemli-Opitz syndromeLikely benign
(Apr 5, 2022)
criteria provided, single submitter
98.
GRCh37:
Chr11:71155921-71155951
GRCh38:
Chr11:71444875-71444905
DHCR7D16fsSmith-Lemli-Opitz syndromePathogenic
(Jul 28, 2022)
criteria provided, single submitter
99.
GRCh37:
Chr11:71153343
GRCh38:
Chr11:71442297
DHCR7Smith-Lemli-Opitz syndromeLikely benign
(Mar 19, 2022)
criteria provided, single submitter
100.
GRCh37:
Chr11:71155168
GRCh38:
Chr11:71444122
DHCR7Smith-Lemli-Opitz syndromeLikely benign
(Jan 11, 2022)
criteria provided, single submitter
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