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Links from MedGen

Items: 32

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
ChrX:64141780
GRCh38:
ChrX:64921900
ZC4H2Y25N, Y48NWieacker-Wolff syndromeUncertain significancecriteria provided, single submitter
2.
GRCh37:
ChrX:64138932
GRCh38:
ChrX:64919052
ZC4H2P161fs, P184fsWieacker-Wolff syndromeUncertain significance
(May 2, 2023)
criteria provided, single submitter
3.
GRCh37:
ChrX:64141745
GRCh38:
ChrX:64921865
ZC4H2K36N, K59NWieacker-Wolff syndromeUncertain significance
(May 25, 2020)
criteria provided, single submitter
4.
GRCh37:
ChrX:64139077
GRCh38:
ChrX:64919197
ZC4H2E113Q, E136QWieacker-Wolff syndromeUncertain significance
(May 1, 2020)
criteria provided, single submitter
5.
GRCh37:
ChrX:64138956
GRCh38:
ChrX:64919076
ZC4H2T153M, T176MWieacker-Wolff syndrome, not providedUncertain significance
(Aug 20, 2022)
criteria provided, multiple submitters, no conflicts
6.
GRCh37:
ChrX:64141744-64141748
GRCh38:
ChrX:64921864-64921868
ZC4H2E35fs, E58fsWieacker-Wolff syndromeLikely pathogenic
(Feb 1, 2020)
criteria provided, single submitter
7.
GRCh37:
ChrX:64138944-64138945
GRCh38:
ChrX:64919064-64919065
ZC4H2R157fs, R180fsWieacker-Wolff syndromeLikely pathogenic
(Nov 16, 2020)
no assertion criteria provided
8.
GRCh37:
ChrX:64138915
GRCh38:
ChrX:64919035
ZC4H2Wieacker-Wolff syndromeUncertain significance
(May 2, 2023)
criteria provided, multiple submitters, no conflicts
9.
GRCh37:
ChrX:64185692
GRCh38:
ChrX:64965812
ZC4H2Wieacker-Wolff syndromeLikely pathogenic
(Mar 9, 2020)
criteria provided, single submitter
10.
GRCh37:
ChrX:64140113-64140116
GRCh38:
ChrX:64920233-64920236
ZC4H2K58fs, K81fsnot provided, Inborn genetic diseases, Wieacker-Wolff syndrome
Pathogenic
(Jul 5, 2022)
criteria provided, multiple submitters, no conflicts
11.
GRCh37:
ChrX:64141752
GRCh38:
ChrX:64921872
ZC4H2Q34P, Q57PWieacker-Wolff syndromeUncertain significance
(Jan 1, 2016)
criteria provided, single submitter
12.
GRCh37:
ChrX:64137740
GRCh38:
ChrX:64917860
ZC4H2A177T, A200T, M145IWieacker-Wolff syndromePathogenic
(Mar 23, 2020)
criteria provided, single submitter
13.
GRCh37:
ChrX:64138922
GRCh38:
ChrX:64919042
ZC4H2K164N, K187NWieacker-Wolff syndromeUncertain significance
(Jan 1, 2016)
criteria provided, single submitter
14.
GRCh37:
ChrX:64137762
GRCh38:
ChrX:64917882
ZC4H2H193fs, V138fs, H170fsWieacker-Wolff syndromePathogenic
(Jan 28, 2020)
criteria provided, single submitter
15.
GRCh37:
ChrX:64137688
GRCh38:
ChrX:64917808
ZC4H2K217R, K194R, S163GWieacker-Wolff syndromePathogenic
(Apr 9, 2020)
no assertion criteria provided
16.
GRCh37:
ChrX:64139071
GRCh38:
ChrX:64919191
ZC4H2Q115*, Q138*Wieacker-Wolff syndrome, not providedPathogenic
(Apr 4, 2019)
criteria provided, multiple submitters, no conflicts
17.
GRCh37:
ChrX:64171841-64267316
ZC4H2Wieacker-Wolff syndromePathogenic
(Jun 15, 2017)
criteria provided, single submitter
18.
GRCh37:
ChrX:64139051
GRCh38:
ChrX:64919171
ZC4H2Wieacker-Wolff syndrome, female-restricted, Wieacker-Wolff syndrome, not provided,
Inborn genetic diseases
Benign
(Nov 2, 2022)
criteria provided, multiple submitters, no conflicts
19.
GRCh37:
ChrX:64141869
GRCh38:
ChrX:64921989
ZC4H2Wieacker-Wolff syndromenot providedno assertion provided
20.
GRCh37:
ChrX:64139056
GRCh38:
ChrX:64919176
ZC4H2Q143*, Q120*not provided, Wieacker-Wolff syndromePathogenic/Likely pathogenic
(Aug 21, 2019)
criteria provided, multiple submitters, no conflicts
21.
GRCh37:
ChrX:64139979-64139981
GRCh38:
ChrX:64920099-64920101
ZC4H2E105del, E128delWieacker-Wolff syndromeLikely pathogenic
(May 3, 2020)
criteria provided, single submitter
22.
GRCh37:
ChrX:64196235-64196236
GRCh38:
ChrX:64976355-64976356
ZC4H2M8fsWieacker-Wolff syndrome, not providedPathogenic
(Feb 21, 2022)
criteria provided, multiple submitters, no conflicts
23.
GRCh37:
ChrX:64137707
GRCh38:
ChrX:64917827
ZC4H2R211W, R188WWieacker-Wolff syndrome, not providedLikely pathogenic
(Aug 5, 2022)
criteria provided, multiple submitters, no conflicts
24.
GRCh37:
ChrX:64137746
GRCh38:
ChrX:64917866
ZC4H2R198W, R175Wnot provided, Wieacker-Wolff syndrome, Wieacker-Wolff syndrome, female-restricted,
Wieacker-Wolff syndrome
Pathogenic/Likely pathogenic
(Jun 26, 2023)
criteria provided, multiple submitters, no conflicts
25.
GRCh37:
ChrX:64141723
GRCh38:
ChrX:64921843
ZC4H2R67*, R44*Inborn genetic diseases, Wieacker-Wolff syndrome, female-restricted, Wieacker-Wolff syndrome,
not provided
Pathogenic/Likely pathogenic
(Jun 12, 2023)
criteria provided, multiple submitters, no conflicts
26.
GRCh37:
ChrX:64196205
GRCh38:
ChrX:64976325
ZC4H2R18KWieacker-Wolff syndromePathogenic
(Mar 2, 2017)
no assertion criteria provided
27.
GRCh37:
ChrX:64141692
GRCh38:
ChrX:64921812
ZC4H2ZC4H2-related X-linked intellectual disability, not providedPathogenic/Likely pathogenic
(Mar 1, 2023)
criteria provided, multiple submitters, no conflicts
28.
GRCh37:
ChrX:64141725
GRCh38:
ChrX:64921845
ZC4H2L66H, L43HWieacker-Wolff syndromePathogenic
(Mar 2, 2017)
no assertion criteria provided
29.
GRCh37:
ChrX:64137701
GRCh38:
ChrX:64917821
ZC4H2R213W, R190WInborn genetic diseases, not providedPathogenic
(Jan 25, 2022)
criteria provided, multiple submitters, no conflicts
30.
GRCh37:
ChrX:64137737
GRCh38:
ChrX:64917857
ZC4H2P201S, P178SNeurodevelopmental disorderLikely pathogenic
(Jun 24, 2020)
criteria provided, single submitter
31.
GRCh37:
ChrX:64137745
GRCh38:
ChrX:64917865
ZC4H2R198Q, R175Q, G144RWieacker-Wolff syndrome, Wieacker-Wolff syndrome, female-restricted, not provided
Pathogenic
(May 24, 2023)
criteria provided, multiple submitters, no conflicts
32.
GRCh37:
ChrX:64141735
GRCh38:
ChrX:64921855
ZC4H2V63L, V40LWieacker-Wolff syndromePathogenic
(May 2, 2013)
no assertion criteria provided
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