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Links from MedGen

Items: 49

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr18:10760907
GRCh38:
Chr18:10760909
PIEZO2Arthrogryposis- oculomotor limitation-electroretinal anomalies syndromeLikely pathogenic
(Oct 30, 2023)
no assertion criteria provided
2.
GRCh37:
Chr18:10784914
GRCh38:
Chr18:10784916
PIEZO2L787RArthrogryposis- oculomotor limitation-electroretinal anomalies syndromeUncertain significance
(May 4, 2023)
criteria provided, single submitter
3.
GRCh37:
Chr18:11066215
GRCh38:
Chr18:11066216
PIEZO2A24VArthrogryposis- oculomotor limitation-electroretinal anomalies syndrome, Gordon syndrome, Arthrogryposis, distal, with impaired proprioception and touch
Uncertain significance
(Aug 13, 2021)
criteria provided, single submitter
4.
GRCh37:
Chr18:10784902
GRCh38:
Chr18:10784904
PIEZO2I791KArthrogryposis- oculomotor limitation-electroretinal anomalies syndromePathogenic
(May 4, 2022)
criteria provided, single submitter
5.
GRCh37:
Chr18:10773461-10773471
GRCh38:
Chr18:10773463-10773473
PIEZO2S883fs, S908fsArthrogryposis- oculomotor limitation-electroretinal anomalies syndromePathogenic
(May 4, 2022)
criteria provided, single submitter
6.
GRCh37:
Chr18:10718207-10718208
GRCh38:
Chr18:10718209-10718210
PIEZO2D1636fs, D1694fsArthrogryposis- oculomotor limitation-electroretinal anomalies syndromePathogenic
(May 4, 2022)
criteria provided, single submitter
7.
GRCh37:
Chr18:10744108
GRCh38:
Chr18:10744110
PIEZO2Arthrogryposis, distal, with impaired proprioception and touch, Marden-Walker syndrome, Gordon syndrome,
Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome, not provided
Benign
(Sep 5, 2021)
criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr18:10680163
GRCh38:
Chr18:10680166
PIEZO2Arthrogryposis, distal, with impaired proprioception and touch, Gordon syndrome, Marden-Walker syndrome,
Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome, not provided
Benign
(Sep 5, 2021)
criteria provided, multiple submitters, no conflicts
9.
GRCh37:
Chr18:10797567
GRCh38:
Chr18:10797569
PIEZO2Arthrogryposis, distal, with impaired proprioception and touch, Gordon syndrome, Marden-Walker syndrome,
Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome, not provided
Benign
(Sep 5, 2021)
criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr18:10787200-10787201
GRCh38:
Chr18:10787202-10787203
PIEZO2Gordon syndrome, Marden-Walker syndrome, Arthrogryposis, distal, with impaired proprioception and touch,
Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome, not provided
Benign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr18:10677881
GRCh38:
Chr18:10677884
PIEZO2Gordon syndrome, Marden-Walker syndrome, not provided,
Arthrogryposis, distal, with impaired proprioception and touch, Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome, not specified
Benign
(Oct 30, 2022)
criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr18:10795041
GRCh38:
Chr18:10795043
PIEZO2Arthrogryposis, distal, with impaired proprioception and touch, not provided, Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome,
Gordon syndrome, Marden-Walker syndrome
Benign
(Sep 5, 2021)
criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr18:10763132
GRCh38:
Chr18:10763134
PIEZO2Gordon syndrome, Marden-Walker syndrome, Arthrogryposis, distal, with impaired proprioception and touch,
not provided, Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome
Benign
(Sep 5, 2021)
criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr18:10787200
GRCh38:
Chr18:10787202
PIEZO2Arthrogryposis, distal, with impaired proprioception and touch, Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome, Gordon syndrome,
Marden-Walker syndrome, not provided
Benign/Likely benign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr18:10691192
GRCh38:
Chr18:10691194
PIEZO2Marden-Walker syndrome, Arthrogryposis, distal, with impaired proprioception and touch, not provided,
Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome, Gordon syndrome
Benign
(Sep 5, 2021)
criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr18:10784734
GRCh38:
Chr18:10784736
PIEZO2not provided, Arthrogryposis, distal, with impaired proprioception and touch, Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome,
Gordon syndrome, Marden-Walker syndrome
Benign
(Sep 5, 2021)
criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr18:10696333
GRCh38:
Chr18:10696335
PIEZO2not provided, Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome, Gordon syndrome,
Marden-Walker syndrome, Arthrogryposis, distal, with impaired proprioception and touch
Benign
(Sep 5, 2021)
criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr18:10759935
GRCh38:
Chr18:10759937
PIEZO2Gordon syndrome, Marden-Walker syndrome, Arthrogryposis, distal, with impaired proprioception and touch,
not provided, Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome
Benign
(Sep 5, 2021)
criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr18:10759467
GRCh38:
Chr18:10759469
PIEZO2not provided, Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome, Marden-Walker syndrome,
Gordon syndrome, Arthrogryposis, distal, with impaired proprioception and touch
Benign/Likely benign
(Aug 22, 2022)
criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr18:10696043
GRCh38:
Chr18:10696045
PIEZO2Arthrogryposis, distal, with impaired proprioception and touch, not provided, Gordon syndrome,
Marden-Walker syndrome, Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome
Benign
(Sep 5, 2021)
criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr18:10671567
GRCh38:
Chr18:10671570
PIEZO2S2739L, S2852LArthrogryposis- oculomotor limitation-electroretinal anomalies syndromeLikely pathogeniccriteria provided, single submitter
22.
GRCh37:
Chr18:10671727
GRCh38:
Chr18:10671730
PIEZO2R2686G, R2799Gnot provided, Arthrogryposis- oculomotor limitation-electroretinal anomalies syndromeConflicting interpretations of pathogenicity
(Oct 13, 2022)
criteria provided, conflicting interpretations
23.
GRCh37:
Chr18:10699142
GRCh38:
Chr18:10699144
PIEZO2E2046Q, E2159QArthrogryposis- oculomotor limitation-electroretinal anomalies syndrome, Arthrogryposis, distal, with impaired proprioception and touch, Gordon syndrome,
Marden-Walker syndrome, not specified
Uncertain significance
(Oct 31, 2018)
criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr18:10691216
GRCh38:
Chr18:10691218
PIEZO2Marden-Walker syndrome, Gordon syndrome, not specified,
Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome, Arthrogryposis, distal, with impaired proprioception and touch, not provided
Benign
(Oct 30, 2022)
criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr18:10691357
GRCh38:
Chr18:10691359
PIEZO2Marden-Walker syndrome, Gordon syndrome, Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome,
not provided, Arthrogryposis, distal, with impaired proprioception and touch, not specified
Benign
(Oct 30, 2022)
criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr18:10696227
GRCh38:
Chr18:10696229
PIEZO2Marden-Walker syndrome, Gordon syndrome, Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome,
not specified, Arthrogryposis, distal, with impaired proprioception and touch, not provided
Benign
(Oct 30, 2022)
criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr18:10704619
GRCh38:
Chr18:10704621
PIEZO2E1898Q, E2011QMarden-Walker syndrome, Gordon syndrome, Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome,
not specified, Arthrogryposis, distal, with impaired proprioception and touch, not provided
Benign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
28.
GRCh37:
Chr18:10704638
GRCh38:
Chr18:10704640
PIEZO2Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome, Gordon syndrome, Arthrogryposis, distal, with impaired proprioception and touch,
Marden-Walker syndrome, not specified, not provided
Benign/Likely benign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
29.
GRCh37:
Chr18:10705744
GRCh38:
Chr18:10705746
PIEZO2Marden-Walker syndrome, Gordon syndrome, Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome,
not provided, Arthrogryposis, distal, with impaired proprioception and touch, not specified
Benign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr18:10741011
GRCh38:
Chr18:10741013
PIEZO2Arthrogryposis, distal, with impaired proprioception and touch, Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome, not specified,
Gordon syndrome, Marden-Walker syndrome, not provided
Benign
(Oct 30, 2022)
criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr18:10748603
GRCh38:
Chr18:10748605
PIEZO2Marden-Walker syndrome, Gordon syndrome, not provided,
Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome, Arthrogryposis, distal, with impaired proprioception and touch, not specified
Benign
(Oct 30, 2022)
criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr18:10752666
GRCh38:
Chr18:10752668
PIEZO2V1354I, V1379IMarden-Walker syndrome, Gordon syndrome, Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome,
not specified, Arthrogryposis, distal, with impaired proprioception and touch, not provided
Benign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
33.
GRCh37:
Chr18:10758023
GRCh38:
Chr18:10758025
PIEZO2Marden-Walker syndrome, Gordon syndrome, Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome,
not specified, Arthrogryposis, distal, with impaired proprioception and touch, not provided
Benign
(Oct 30, 2022)
criteria provided, multiple submitters, no conflicts
34.
GRCh37:
Chr18:10762962
GRCh38:
Chr18:10762964
PIEZO2Marden-Walker syndrome, not specified, Gordon syndrome,
Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome, Arthrogryposis, distal, with impaired proprioception and touch, not provided
Benign
(Oct 30, 2022)
criteria provided, multiple submitters, no conflicts
35.
GRCh37:
Chr18:10763007
GRCh38:
Chr18:10763009
PIEZO2Marden-Walker syndrome, Gordon syndrome, Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome,
not specified, not provided, Arthrogryposis, distal, with impaired proprioception and touch
Benign
(Oct 30, 2022)
criteria provided, multiple submitters, no conflicts
36.
GRCh37:
Chr18:10787047
GRCh38:
Chr18:10787049
PIEZO2Marden-Walker syndrome, not specified, Gordon syndrome,
Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome, not provided, Arthrogryposis, distal, with impaired proprioception and touch
Benign
(Oct 30, 2022)
criteria provided, multiple submitters, no conflicts
37.
GRCh37:
Chr18:10762975
GRCh38:
Chr18:10762977
PIEZO2M998T, M1023TArthrogryposis- oculomotor limitation-electroretinal anomalies syndromePathogenic
(Jun 4, 2014)
no assertion criteria provided
38.
GRCh37:
Chr18:10696261
GRCh38:
Chr18:10696263
PIEZO2T2221I, T2334IArthrogryposis- oculomotor limitation-electroretinal anomalies syndromePathogenic
(Jun 4, 2014)
no assertion criteria provided
39.
GRCh37:
Chr18:10696255
GRCh38:
Chr18:10696257
PIEZO2S2223L, S2336LArthrogryposis- oculomotor limitation-electroretinal anomalies syndromePathogenic
(Jun 4, 2014)
no assertion criteria provided
40.
GRCh37:
Chr18:10689744
GRCh38:
Chr18:10689746
PIEZO2T2356M, T2469MArthrogryposis- oculomotor limitation-electroretinal anomalies syndromePathogenic
(Jun 4, 2014)
no assertion criteria provided
41.
GRCh37:
Chr18:10671600-10671602
GRCh38:
Chr18:10671603-10671605
PIEZO2E2727del, E2840delDistal arthrogryposis, Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome, not provided
Pathogenic
(Oct 28, 2022)
criteria provided, multiple submitters, no conflicts
42.
GRCh37:
Chr18:10671575
GRCh38:
Chr18:10671578
PIEZO2Y2737fs, Y2850fsArthrogryposis- oculomotor limitation-electroretinal anomalies syndromePathogenic
(Jun 4, 2014)
no assertion criteria provided
43.
GRCh37:
Chr18:10752860
GRCh38:
Chr18:10752862
PIEZO2S1289F, S1314FArthrogryposis- oculomotor limitation-electroretinal anomalies syndrome, Marden-Walker syndrome, Arthrogryposis, distal, with impaired proprioception and touch,
Gordon syndrome, not provided
Benign/Likely benign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr18:10671568
GRCh38:
Chr18:10671571
PIEZO2S2739P, S2852PArthrogryposis- oculomotor limitation-electroretinal anomalies syndromePathogenic
(Jun 4, 2014)
no assertion criteria provided
45.
GRCh37:
Chr18:10789112
GRCh38:
Chr18:10789114
PIEZO2M712VInborn genetic diseasesPathogenic
(Dec 14, 2016)
criteria provided, single submitter
46.
GRCh37:
Chr18:10671630
GRCh38:
Chr18:10671633
PIEZO2R2718P, R2831PArthrogryposis- oculomotor limitation-electroretinal anomalies syndromePathogenic
(Jun 4, 2014)
no assertion criteria provided
47.
GRCh37:
Chr18:10671630
GRCh38:
Chr18:10671633
PIEZO2R2718L, R2831LArthrogryposis- oculomotor limitation-electroretinal anomalies syndromePathogenic
(Jun 4, 2014)
no assertion criteria provided
48.
GRCh37:
Chr18:10671726
GRCh38:
Chr18:10671729
PIEZO2R2686H, R2799HArthrogryposis- oculomotor limitation-electroretinal anomalies syndrome, Gordon syndrome, Arthrogryposis, distal, with impaired proprioception and touch,
Inborn genetic diseases, Gordon syndrome, not provided,
Fetal akinesia deformation sequence 1, Arthrogryposis multiplex congenita
Pathogenic
(Nov 7, 2022)
criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr18:10784870
GRCh38:
Chr18:10784872
PIEZO2I802FArthrogryposis- oculomotor limitation-electroretinal anomalies syndromePathogenic
(Mar 19, 2013)
no assertion criteria provided
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