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Links from MedGen

Items: 1 to 100 of 157

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
ChrX:128674417-129299630
OCRL, ZDHHC9, XPNPEP2, ELF4, SASH3, BCORL1, UTP14A, APLN, AIFM1Syndromic X-linked intellectual disability Raymond typePathogenic
(Aug 28, 2022)
criteria provided, single submitter
2.
GRCh37:
ChrX:128940357
GRCh38:
ChrX:129806381
ZDHHC9A362PSyndromic X-linked intellectual disability Raymond typeUncertain significance
(Aug 1, 2022)
criteria provided, single submitter
3.
GRCh37:
ChrX:128948764
GRCh38:
ChrX:129814788
ZDHHC9Syndromic X-linked intellectual disability Raymond typeLikely benign
(Sep 6, 2022)
criteria provided, single submitter
4.
GRCh37:
ChrX:128940462
GRCh38:
ChrX:129806486
ZDHHC9A327TSyndromic X-linked intellectual disability Raymond type, Inborn genetic diseasesUncertain significance
(May 9, 2022)
criteria provided, multiple submitters, no conflicts
5.
GRCh37:
ChrX:128944967
GRCh38:
ChrX:129810991
ZDHHC9R298*Syndromic X-linked intellectual disability Raymond type, Inborn genetic diseasesPathogenic/Likely pathogenic
(Feb 15, 2023)
criteria provided, multiple submitters, no conflicts
6.
GRCh37:
ChrX:128946773
GRCh38:
ChrX:129812797
ZDHHC9F233SSyndromic X-linked intellectual disability Raymond typeUncertain significance
(Jun 28, 2022)
criteria provided, single submitter
7.
GRCh37:
ChrX:128957636
GRCh38:
ChrX:129823660
ZDHHC9Syndromic X-linked intellectual disability Raymond typeLikely benign
(Sep 22, 2022)
criteria provided, single submitter
8.
GRCh37:
ChrX:128940411
GRCh38:
ChrX:129806435
ZDHHC9P344SSyndromic X-linked intellectual disability Raymond typeLikely benign
(Oct 14, 2022)
criteria provided, single submitter
9.
GRCh37:
ChrX:128957797
GRCh38:
ChrX:129823821
ZDHHC9Syndromic X-linked intellectual disability Raymond typeLikely benign
(Jun 23, 2022)
criteria provided, single submitter
10.
GRCh37:
ChrX:128963063
GRCh38:
ChrX:129829087
ZDHHC9M74ISyndromic X-linked intellectual disability Raymond typeUncertain significance
(Apr 21, 2022)
criteria provided, single submitter
11.
GRCh37:
ChrX:128957781
GRCh38:
ChrX:129823805
ZDHHC9R121*Syndromic X-linked intellectual disability Raymond typePathogenic
(Apr 16, 2022)
criteria provided, single submitter
12.
GRCh37:
ChrX:128963019
GRCh38:
ChrX:129829043
ZDHHC9S89TSyndromic X-linked intellectual disability Raymond typeUncertain significance
(Apr 16, 2022)
criteria provided, single submitter
13.
GRCh37:
ChrX:128940420
GRCh38:
ChrX:129806444
ZDHHC9S341GSyndromic X-linked intellectual disability Raymond typeUncertain significance
(May 21, 2022)
criteria provided, single submitter
14.
GRCh37:
ChrX:128963105
GRCh38:
ChrX:129829129
ZDHHC9Syndromic X-linked intellectual disability Raymond typeUncertain significance
(Jan 17, 2022)
criteria provided, single submitter
15.
GRCh37:
ChrX:128945456
GRCh38:
ChrX:129811480
ZDHHC9Syndromic X-linked intellectual disability Raymond typeLikely benign
(Apr 1, 2022)
criteria provided, single submitter
16.
GRCh37:
ChrX:128945500
GRCh38:
ChrX:129811524
ZDHHC9Syndromic X-linked intellectual disability Raymond typeLikely benign
(Jun 23, 2022)
criteria provided, single submitter
17.
GRCh37:
ChrX:128948620
GRCh38:
ChrX:129814644
ZDHHC9Syndromic X-linked intellectual disability Raymond typeLikely benign
(Sep 24, 2022)
criteria provided, single submitter
18.
GRCh37:
ChrX:128944875
GRCh38:
ChrX:129810899
ZDHHC9Syndromic X-linked intellectual disability Raymond typeUncertain significance
(Oct 13, 2022)
criteria provided, single submitter
19.
GRCh37:
ChrX:128962957
GRCh38:
ChrX:129828981
ZDHHC9E110KSyndromic X-linked intellectual disability Raymond typeUncertain significance
(Jul 19, 2022)
criteria provided, single submitter
20.
GRCh37:
ChrX:128948743
GRCh38:
ChrX:129814767
ZDHHC9Syndromic X-linked intellectual disability Raymond typeUncertain significance
(Nov 27, 2021)
criteria provided, single submitter
21.
GRCh37:
ChrX:128946753
GRCh38:
ChrX:129812777
ZDHHC9V240MSyndromic X-linked intellectual disability Raymond typeUncertain significance
(Jul 10, 2022)
criteria provided, single submitter
22.
GRCh37:
ChrX:128940409
GRCh38:
ChrX:129806433
ZDHHC9Syndromic X-linked intellectual disability Raymond typeLikely benign
(Feb 22, 2022)
criteria provided, single submitter
23.
GRCh37:
ChrX:128948786
GRCh38:
ChrX:129814810
ZDHHC9Syndromic X-linked intellectual disability Raymond typeBenign
(Jan 11, 2022)
criteria provided, single submitter
24.
GRCh37:
ChrX:128948788
GRCh38:
ChrX:129814812
ZDHHC9Syndromic X-linked intellectual disability Raymond typeLikely benign
(Jan 11, 2022)
criteria provided, single submitter
25.
GRCh37:
ChrX:128957806
GRCh38:
ChrX:129823830
ZDHHC9Syndromic X-linked intellectual disability Raymond typeLikely benign
(Jul 30, 2022)
criteria provided, single submitter
26.
GRCh37:
ChrX:128947643
GRCh38:
ChrX:129813667
ZDHHC9Syndromic X-linked intellectual disability Raymond typeBenign
(Aug 31, 2022)
criteria provided, single submitter
27.
GRCh37:
ChrX:128944874
GRCh38:
ChrX:129810898
ZDHHC9Syndromic X-linked intellectual disability Raymond typeLikely benign
(Aug 25, 2022)
criteria provided, single submitter
28.
GRCh37:
ChrX:128945365
GRCh38:
ChrX:129811389
ZDHHC9Syndromic X-linked intellectual disability Raymond typeLikely benign
(Jul 13, 2022)
criteria provided, single submitter
29.
GRCh37:
ChrX:128945456
GRCh38:
ChrX:129811480
ZDHHC9Syndromic X-linked intellectual disability Raymond typeLikely benign
(Sep 9, 2022)
criteria provided, single submitter
30.
GRCh37:
ChrX:128945496
GRCh38:
ChrX:129811520
ZDHHC9Syndromic X-linked intellectual disability Raymond typeLikely benign
(Feb 28, 2022)
criteria provided, single submitter
31.
GRCh37:
ChrX:128963065
GRCh38:
ChrX:129829089
ZDHHC9M74VSyndromic X-linked intellectual disability Raymond typeUncertain significance
(Feb 1, 2022)
criteria provided, single submitter
32.
GRCh37:
ChrX:128940403
GRCh38:
ChrX:129806427
ZDHHC9Syndromic X-linked intellectual disability Raymond typeLikely benign
(Aug 19, 2022)
criteria provided, single submitter
33.
GRCh37:
ChrX:128975846
GRCh38:
ChrX:129841870
ZDHHC9D26Nnot provided, Syndromic X-linked intellectual disability Raymond typeUncertain significance
(Jan 23, 2023)
criteria provided, multiple submitters, no conflicts
34.
GRCh37:
ChrX:128946701
GRCh38:
ChrX:129812725
ZDHHC9N257SSyndromic X-linked intellectual disability Raymond typeUncertain significance
(Aug 24, 2022)
criteria provided, single submitter
35.
GRCh37:
ChrX:128944907
GRCh38:
ChrX:129810931
ZDHHC9S318CSyndromic X-linked intellectual disability Raymond typeUncertain significance
(Aug 19, 2022)
criteria provided, single submitter
36.
GRCh37:
ChrX:128948693
GRCh38:
ChrX:129814717
ZDHHC9L189PSyndromic X-linked intellectual disability Raymond typeUncertain significance
(Sep 1, 2022)
criteria provided, single submitter
37.
GRCh37:
ChrX:128963018
GRCh38:
ChrX:129829042
ZDHHC9S89fsSyndromic X-linked intellectual disability Raymond typeLikely pathogenic
(Sep 1, 2022)
criteria provided, single submitter
38.
GRCh37:
ChrX:128948658
GRCh38:
ChrX:129814682
ZDHHC9F201LSyndromic X-linked intellectual disability Raymond typeUncertain significance
(Jun 24, 2022)
criteria provided, single submitter
39.
GRCh37:
ChrX:128948736
GRCh38:
ChrX:129814760
ZDHHC9C175GSyndromic X-linked intellectual disability Raymond typeUncertain significance
(Jun 3, 2022)
criteria provided, single submitter
40.
GRCh37:
ChrX:128940460
GRCh38:
ChrX:129806484
ZDHHC9Syndromic X-linked intellectual disability Raymond typeLikely benign
(Mar 10, 2021)
criteria provided, single submitter
41.
GRCh37:
ChrX:128947712
GRCh38:
ChrX:129813736
ZDHHC9Syndromic X-linked intellectual disability Raymond typeLikely benign
(Dec 23, 2020)
criteria provided, single submitter
42.
GRCh37:
ChrX:128947642
GRCh38:
ChrX:129813666
ZDHHC9Syndromic X-linked intellectual disability Raymond typeBenign
(Oct 21, 2022)
criteria provided, single submitter
43.
GRCh37:
ChrX:128947633
GRCh38:
ChrX:129813657
ZDHHC9Syndromic X-linked intellectual disability Raymond typeBenign
(Aug 1, 2022)
criteria provided, single submitter
44.
GRCh37:
ChrX:128948786
GRCh38:
ChrX:129814810
ZDHHC9Syndromic X-linked intellectual disability Raymond typeLikely benign
(Nov 27, 2021)
criteria provided, single submitter
45.
GRCh37:
ChrX:128963135
GRCh38:
ChrX:129829159
ZDHHC9Syndromic X-linked intellectual disability Raymond typeBenign
(Sep 27, 2022)
criteria provided, single submitter
46.
GRCh37:
ChrX:128944923
GRCh38:
ChrX:129810947
ZDHHC9Syndromic X-linked intellectual disability Raymond typeLikely benign
(Jun 14, 2021)
criteria provided, single submitter
47.
GRCh37:
ChrX:128957638
GRCh38:
ChrX:129823662
ZDHHC9Syndromic X-linked intellectual disability Raymond typeBenign
(Oct 13, 2022)
criteria provided, single submitter
48.
GRCh37:
ChrX:128975763
GRCh38:
ChrX:129841787
ZDHHC9Syndromic X-linked intellectual disability Raymond typeLikely benign
(Aug 31, 2022)
criteria provided, single submitter
49.
GRCh37:
ChrX:128948698
GRCh38:
ChrX:129814722
ZDHHC9Syndromic X-linked intellectual disability Raymond typeLikely benign
(Oct 20, 2022)
criteria provided, single submitter
50.
GRCh37:
ChrX:128975778
GRCh38:
ChrX:129841802
ZDHHC9Syndromic X-linked intellectual disability Raymond typeLikely benign
(Jul 5, 2022)
criteria provided, single submitter
51.
GRCh37:
ChrX:128948783-128948784
GRCh38:
ChrX:129814807-129814808
ZDHHC9Syndromic X-linked intellectual disability Raymond typeBenign
(Sep 13, 2022)
criteria provided, single submitter
52.
GRCh37:
ChrX:128946678
GRCh38:
ChrX:129812702
ZDHHC9Syndromic X-linked intellectual disability Raymond typeBenign
(Oct 28, 2022)
criteria provided, single submitter
53.
GRCh37:
ChrX:128962946
GRCh38:
ChrX:129828970
ZDHHC9Syndromic X-linked intellectual disability Raymond typeLikely benign
(Sep 12, 2022)
criteria provided, single submitter
54.
GRCh37:
ChrX:128962940
GRCh38:
ChrX:129828964
ZDHHC9Syndromic X-linked intellectual disability Raymond typeLikely benign
(Jul 15, 2022)
criteria provided, single submitter
55.
GRCh37:
ChrX:128947661
GRCh38:
ChrX:129813685
ZDHHC9Syndromic X-linked intellectual disability Raymond typeLikely benign
(Jan 20, 2022)
criteria provided, single submitter
56.
GRCh37:
ChrX:128975786
GRCh38:
ChrX:129841810
ZDHHC9Syndromic X-linked intellectual disability Raymond type, Inborn genetic diseasesLikely benign
(Feb 5, 2022)
criteria provided, multiple submitters, no conflicts
57.
GRCh37:
ChrX:128948788
GRCh38:
ChrX:129814812
ZDHHC9Syndromic X-linked intellectual disability Raymond typeLikely benign
(Sep 7, 2022)
criteria provided, single submitter
58.
GRCh37:
ChrX:128947646
GRCh38:
ChrX:129813670
ZDHHC9Syndromic X-linked intellectual disability Raymond typeLikely benign
(Mar 19, 2022)
criteria provided, single submitter
59.
GRCh37:
ChrX:128962941
GRCh38:
ChrX:129828965
ZDHHC9Syndromic X-linked intellectual disability Raymond typeLikely benign
(Jul 19, 2021)
criteria provided, single submitter
60.
GRCh37:
ChrX:128944905
GRCh38:
ChrX:129810929
ZDHHC9Syndromic X-linked intellectual disability Raymond typeLikely benign
(Dec 23, 2020)
criteria provided, single submitter
61.
GRCh37:
ChrX:128944866
GRCh38:
ChrX:129810890
ZDHHC9Syndromic X-linked intellectual disability Raymond typeBenign
(Oct 23, 2022)
criteria provided, single submitter
62.
GRCh37:
ChrX:128957640-128957641
GRCh38:
ChrX:129823664-129823665
ZDHHC9Inborn genetic diseases, Syndromic X-linked intellectual disability Raymond typeBenign/Likely benign
(Oct 18, 2022)
criteria provided, multiple submitters, no conflicts
63.
GRCh37:
ChrX:128940480
GRCh38:
ChrX:129806504
ZDHHC9Syndromic X-linked intellectual disability Raymond typeBenign
(Nov 1, 2022)
criteria provided, single submitter
64.
GRCh37:
ChrX:128945468
GRCh38:
ChrX:129811492
ZDHHC9Syndromic X-linked intellectual disability Raymond typeLikely benign
(Aug 17, 2021)
criteria provided, single submitter
65.
GRCh37:
ChrX:128948715
GRCh38:
ChrX:129814739
ZDHHC9R182CSyndromic X-linked intellectual disability Raymond typeUncertain significance
(Jun 8, 2022)
criteria provided, single submitter
66.
GRCh37:
ChrX:128945485
GRCh38:
ChrX:129811509
ZDHHC9I260VSyndromic X-linked intellectual disability Raymond typeUncertain significance
(Sep 1, 2021)
criteria provided, single submitter
67.
GRCh37:
ChrX:128940386
GRCh38:
ChrX:129806410
ZDHHC9P352RSyndromic X-linked intellectual disability Raymond typeUncertain significance
(Aug 26, 2021)
criteria provided, single submitter
68.
GRCh37:
ChrX:128940387
GRCh38:
ChrX:129806411
ZDHHC9P352TSyndromic X-linked intellectual disability Raymond typeUncertain significance
(Aug 31, 2021)
criteria provided, single submitter
69.
GRCh37:
ChrX:128957814-128957815
GRCh38:
ChrX:129823838-129823839
ZDHHC9Syndromic X-linked intellectual disability Raymond typeUncertain significance
(Sep 21, 2022)
criteria provided, multiple submitters, no conflicts
70.
GRCh37:
ChrX:128940413
GRCh38:
ChrX:129806437
ZDHHC9T343ISyndromic X-linked intellectual disability Raymond typeUncertain significance
(Aug 26, 2021)
criteria provided, single submitter
71.
GRCh37:
ChrX:128963041
GRCh38:
ChrX:129829065
ZDHHC9T82Anot provided, Syndromic X-linked intellectual disability Raymond typeUncertain significance
(Jan 30, 2023)
criteria provided, multiple submitters, no conflicts
72.
GRCh37:
ChrX:128957798
GRCh38:
ChrX:129823822
ZDHHC9A115VSyndromic X-linked intellectual disability Raymond typeUncertain significance
(Jul 21, 2022)
criteria provided, single submitter
73.
GRCh37:
ChrX:128948763
GRCh38:
ChrX:129814787
ZDHHC9D166Nnot provided, Syndromic X-linked intellectual disability Raymond typeConflicting interpretations of pathogenicity
(Jul 18, 2022)
criteria provided, conflicting interpretations
74.
GRCh37:
ChrX:128977666
GRCh38:
ChrX:129843690
ZDHHC9Syndromic X-linked intellectual disability Raymond typeBenign
(Feb 2, 2022)
criteria provided, single submitter
75.
GRCh37:
ChrX:128940396
GRCh38:
ChrX:129806420
ZDHHC9P349Snot provided, Syndromic X-linked intellectual disability Raymond typeConflicting interpretations of pathogenicity
(Oct 7, 2022)
criteria provided, conflicting interpretations
76.
GRCh37:
ChrX:128940409
GRCh38:
ChrX:129806433
ZDHHC9Syndromic X-linked intellectual disability Raymond typeBenign
(Aug 16, 2022)
criteria provided, single submitter
77.
GRCh37:
ChrX:128940427
GRCh38:
ChrX:129806451
ZDHHC9Syndromic X-linked intellectual disability Raymond typeBenign
(Aug 10, 2022)
criteria provided, single submitter
78.
GRCh37:
ChrX:128940457
GRCh38:
ChrX:129806481
ZDHHC9Syndromic X-linked intellectual disability Raymond typeBenign
(Mar 3, 2022)
criteria provided, single submitter
79.
GRCh37:
ChrX:128945402
GRCh38:
ChrX:129811426
ZDHHC9Syndromic X-linked intellectual disability Raymond typeLikely benign
(Oct 18, 2022)
criteria provided, single submitter
80.
GRCh37:
ChrX:128957785
GRCh38:
ChrX:129823809
ZDHHC9Syndromic X-linked intellectual disability Raymond typeLikely benign
(Jun 29, 2020)
criteria provided, single submitter
81.
GRCh37:
ChrX:128962961
GRCh38:
ChrX:129828985
ZDHHC9Syndromic X-linked intellectual disability Raymond typeLikely benign
(Mar 19, 2022)
criteria provided, single submitter
82.
GRCh37:
ChrX:128975871
GRCh38:
ChrX:129841895
ZDHHC9Syndromic X-linked intellectual disability Raymond typeLikely benign
(Jan 11, 2020)
criteria provided, single submitter
83.
GRCh37:
ChrX:128957728
GRCh38:
ChrX:129823752
ZDHHC9Syndromic X-linked intellectual disability Raymond typeLikely benign
(Feb 27, 2019)
criteria provided, single submitter
84.
GRCh37:
ChrX:128945374
GRCh38:
ChrX:129811398
ZDHHC9Syndromic X-linked intellectual disability Raymond typeLikely benign
(Sep 9, 2019)
criteria provided, single submitter
85.
GRCh37:
ChrX:128945372
GRCh38:
ChrX:129811396
ZDHHC9Syndromic X-linked intellectual disability Raymond typeLikely benign
(Jun 15, 2022)
criteria provided, single submitter
86.
GRCh37:
ChrX:128957713
GRCh38:
ChrX:129823737
ZDHHC9Syndromic X-linked intellectual disability Raymond typeLikely benign
(Mar 18, 2022)
criteria provided, single submitter
87.
GRCh37:
ChrX:128948776
GRCh38:
ChrX:129814800
ZDHHC9Syndromic X-linked intellectual disability Raymond typeLikely benign
(Jul 17, 2022)
criteria provided, single submitter
88.
GRCh37:
ChrX:128957758
GRCh38:
ChrX:129823782
ZDHHC9Syndromic X-linked intellectual disability Raymond typeLikely benign
(Apr 10, 2019)
criteria provided, single submitter
89.
GRCh37:
ChrX:128948780
GRCh38:
ChrX:129814804
ZDHHC9Syndromic X-linked intellectual disability Raymond typeLikely benign
(Jun 30, 2020)
criteria provided, single submitter
90.
GRCh37:
ChrX:128940468
GRCh38:
ChrX:129806492
ZDHHC9Syndromic X-linked intellectual disability Raymond typeLikely benign
(Mar 10, 2020)
criteria provided, single submitter
91.
GRCh37:
ChrX:128948710
GRCh38:
ChrX:129814734
ZDHHC9Syndromic X-linked intellectual disability Raymond typeLikely benign
(Oct 26, 2019)
criteria provided, single submitter
92.
GRCh37:
ChrX:128963011
GRCh38:
ChrX:129829035
ZDHHC9G92Rnot provided, Syndromic X-linked intellectual disability Raymond typeUncertain significance
(Jun 9, 2022)
criteria provided, multiple submitters, no conflicts
93.
GRCh37:
ChrX:128962972
GRCh38:
ChrX:129828996
ZDHHC9I105VSyndromic X-linked intellectual disability Raymond typeUncertain significance
(Sep 2, 2021)
criteria provided, single submitter
94.
GRCh37:
ChrX:128957699
GRCh38:
ChrX:129823723
ZDHHC9R148QSyndromic X-linked intellectual disability Raymond typeUncertain significance
(Aug 24, 2021)
criteria provided, single submitter
95.
GRCh37:
ChrX:128940452
GRCh38:
ChrX:129806476
ZDHHC9E330GSyndromic X-linked intellectual disability Raymond typeUncertain significance
(Aug 27, 2021)
criteria provided, single submitter
96.
GRCh37:
ChrX:128948645
GRCh38:
ChrX:129814669
ZDHHC9Y205CSyndromic X-linked intellectual disability Raymond typeUncertain significance
(Aug 31, 2021)
criteria provided, single submitter
97.
GRCh37:
ChrX:128940416
GRCh38:
ChrX:129806440
ZDHHC9S342NSyndromic X-linked intellectual disability Raymond typeUncertain significance
(Jul 5, 2022)
criteria provided, single submitter
98.
GRCh37:
ChrX:128957811
GRCh38:
ChrX:129823835
ZDHHC9A111SSyndromic X-linked intellectual disability Raymond typeUncertain significance
(Aug 30, 2021)
criteria provided, single submitter
99.
GRCh37:
ChrX:128975902
GRCh38:
ChrX:129841926
ZDHHC9R7TSyndromic X-linked intellectual disability Raymond typeUncertain significance
(Aug 28, 2021)
criteria provided, single submitter
100.
GRCh37:
ChrX:128957721
GRCh38:
ChrX:129823745
ZDHHC9C141RSyndromic X-linked intellectual disability Raymond typeUncertain significance
(Feb 10, 2020)
criteria provided, single submitter
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