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Items: 1 to 100 of 120

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr2:233405425
GRCh38:
Chr2:232540715
CHRNGAutosomal recessive multiple pterygium syndromeUncertain significance
(Apr 19, 2022)		criteria provided, single submitter
2.
GRCh37:
Chr2:233406082
GRCh38:
Chr2:232541372
CHRNGAutosomal recessive multiple pterygium syndromeLikely pathogenic
(Sep 16, 2021)		criteria provided, single submitter
3.
GRCh37:
Chr2:233405359-233405360
GRCh38:
Chr2:232540649-232540650
CHRNGAutosomal recessive multiple pterygium syndromeLikely pathogenic
(Sep 16, 2021)		criteria provided, single submitter
4.
GRCh37:
Chr2:233407992
GRCh38:
Chr2:232543282
CHRNGQ272fsAutosomal recessive multiple pterygium syndromePathogenic
(Aug 1, 2021)		criteria provided, single submitter
5.
GRCh37:
Chr2:233407600
GRCh38:
Chr2:232542890
CHRNGE205*Autosomal recessive multiple pterygium syndromeLikely pathogenic
(Aug 1, 2021)		criteria provided, single submitter
6.
GRCh37:
Chr2:233410293
GRCh38:
Chr2:232545583
CHRNG, TIGD1R474Hnot specified, Autosomal recessive multiple pterygium syndrome, Lethal multiple pterygium syndrome
Uncertain significance
(Jan 11, 2022)		criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr2:233406075
GRCh38:
Chr2:232541365
CHRNGAutosomal recessive multiple pterygium syndrome, not providedLikely pathogenic
(Oct 13, 2022)		criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr2:233408074
GRCh38:
Chr2:232543364
CHRNGS299TAutosomal recessive multiple pterygium syndromeLikely pathogenic
(Oct 1, 2021)		criteria provided, single submitter
9.
GRCh37:
Chr2:233408386
GRCh38:
Chr2:232543676
CHRNGS338PAutosomal recessive multiple pterygium syndrome, Lethal multiple pterygium syndrome, Inborn genetic diseases
Uncertain significance
(Nov 30, 2022)		criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr2:233404783
GRCh38:
Chr2:232540073
CHRNGR46QAutosomal recessive multiple pterygium syndromeUncertain significance
(Mar 22, 2018)		criteria provided, single submitter
11.
GRCh37:
Chr2:233409184
GRCh38:
Chr2:232544474
CHRNG, TIGD1W381*Autosomal recessive multiple pterygium syndromePathogenic
(Aug 6, 2019)		criteria provided, single submitter
12.
GRCh37:
Chr2:233410620
GRCh38:
Chr2:232545910
TIGD1, CHRNGLethal multiple pterygium syndrome, Autosomal recessive multiple pterygium syndromeUncertain significance
(Jan 13, 2018)		criteria provided, single submitter
13.
GRCh37:
Chr2:233410607
GRCh38:
Chr2:232545897
TIGD1, CHRNGLethal multiple pterygium syndrome, Autosomal recessive multiple pterygium syndromeUncertain significance
(Mar 30, 2018)		criteria provided, single submitter
14.
GRCh37:
Chr2:233409219
GRCh38:
Chr2:232544509
CHRNG, TIGD1L393PLethal multiple pterygium syndrome, Autosomal recessive multiple pterygium syndromeUncertain significance
(Jan 12, 2018)		criteria provided, single submitter
15.
GRCh37:
Chr2:233409186
GRCh38:
Chr2:232544476
TIGD1, CHRNGS382LLethal multiple pterygium syndrome, Autosomal recessive multiple pterygium syndrome, Lethal multiple pterygium syndrome,
Autosomal recessive multiple pterygium syndrome, Inborn genetic diseases, not provided
Uncertain significance
(Jul 12, 2022)		criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr2:233407695
GRCh38:
Chr2:232542985
CHRNGLethal multiple pterygium syndrome, Autosomal recessive multiple pterygium syndromeUncertain significance
(Jan 12, 2018)		criteria provided, single submitter
17.
GRCh37:
Chr2:233407199
GRCh38:
Chr2:232542489
CHRNGLethal multiple pterygium syndrome, Autosomal recessive multiple pterygium syndromeUncertain significance
(Jan 12, 2018)		criteria provided, single submitter
18.
GRCh37:
Chr2:233405134
GRCh38:
Chr2:232540424
CHRNGM80TLethal multiple pterygium syndrome, Autosomal recessive multiple pterygium syndromeUncertain significance
(Jan 12, 2018)		criteria provided, single submitter
19.
GRCh37:
Chr2:233405129
GRCh38:
Chr2:232540419
CHRNGLethal multiple pterygium syndrome, Autosomal recessive multiple pterygium syndromeUncertain significance
(Jan 12, 2018)		criteria provided, single submitter
20.
GRCh37:
Chr2:233411019
GRCh38:
Chr2:232546309
TIGD1, CHRNGLethal multiple pterygium syndrome, Autosomal recessive multiple pterygium syndromeUncertain significance
(Jan 13, 2018)		criteria provided, single submitter
21.
GRCh37:
Chr2:233411018
GRCh38:
Chr2:232546308
TIGD1, CHRNGLethal multiple pterygium syndrome, Autosomal recessive multiple pterygium syndromeUncertain significance
(Jan 13, 2018)		criteria provided, single submitter
22.
GRCh37:
Chr2:233410495
GRCh38:
Chr2:232545785
CHRNG, TIGD1Autosomal recessive multiple pterygium syndrome, Lethal multiple pterygium syndromeUncertain significance
(Jan 13, 2018)		criteria provided, single submitter
23.
GRCh37:
Chr2:233410433
GRCh38:
Chr2:232545723
TIGD1, CHRNGLethal multiple pterygium syndrome, Autosomal recessive multiple pterygium syndromeUncertain significance
(Jan 13, 2018)		criteria provided, single submitter
24.
GRCh37:
Chr2:233409159
GRCh38:
Chr2:232544449
CHRNG, TIGD1R373QAutosomal recessive multiple pterygium syndrome, Lethal multiple pterygium syndrome, not provided
Uncertain significance
(Mar 7, 2022)		criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr2:233409146
GRCh38:
Chr2:232544436
TIGD1, CHRNGD369NLethal multiple pterygium syndrome, Autosomal recessive multiple pterygium syndromeUncertain significance
(Jan 12, 2018)		criteria provided, single submitter
26.
GRCh37:
Chr2:233409116
GRCh38:
Chr2:232544406
CHRNG, TIGD1V359ILethal multiple pterygium syndrome, Autosomal recessive multiple pterygium syndrome, Inborn genetic diseases
Uncertain significance
(Oct 29, 2021)		criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr2:233407121
GRCh38:
Chr2:232542411
CHRNGLethal multiple pterygium syndrome, Autosomal recessive multiple pterygium syndrome, not provided
Uncertain significance
(Apr 9, 2021)		criteria provided, multiple submitters, no conflicts
28.
GRCh37:
Chr2:233404855
GRCh38:
Chr2:232540145
CHRNGLethal multiple pterygium syndrome, Autosomal recessive multiple pterygium syndromeConflicting interpretations of pathogenicity
(Jan 13, 2018)		criteria provided, conflicting interpretations
29.
GRCh37:
Chr2:233404813
GRCh38:
Chr2:232540103
CHRNGK56TLethal multiple pterygium syndrome, Autosomal recessive multiple pterygium syndromeUncertain significance
(Apr 27, 2017)		criteria provided, single submitter
30.
GRCh37:
Chr2:233404778
GRCh38:
Chr2:232540068
CHRNGnot provided, Lethal multiple pterygium syndrome, Autosomal recessive multiple pterygium syndrome
Conflicting interpretations of pathogenicity
(Jun 8, 2022)		criteria provided, conflicting interpretations
31.
GRCh37:
Chr2:233400387
GRCh38:
Chr2:232535677
CHRND, CHRNGAutosomal recessive multiple pterygium syndrome, Congenital myasthenic syndromeConflicting interpretations of pathogenicity
(Jan 13, 2018)		criteria provided, conflicting interpretations
32.
GRCh37:
Chr2:233406173
GRCh38:
Chr2:232541463
CHRNGR147LLethal multiple pterygium syndrome, Autosomal recessive multiple pterygium syndromeUncertain significance
(Jan 12, 2018)		criteria provided, single submitter
33.
GRCh37:
Chr2:233406159
GRCh38:
Chr2:232541449
CHRNGLethal multiple pterygium syndrome, Autosomal recessive multiple pterygium syndromeUncertain significance
(Jan 13, 2018)		criteria provided, single submitter
34.
GRCh37:
Chr2:233404728
GRCh38:
Chr2:232540018
CHRNGR28CLethal multiple pterygium syndrome, Autosomal recessive multiple pterygium syndrome, not provided
Conflicting interpretations of pathogenicity
(Jan 6, 2022)		criteria provided, conflicting interpretations
35.
GRCh37:
Chr2:233410814
GRCh38:
Chr2:232546104
TIGD1, CHRNGLethal multiple pterygium syndrome, Autosomal recessive multiple pterygium syndromeUncertain significance
(Jan 12, 2018)		criteria provided, single submitter
36.
GRCh37:
Chr2:233410777
GRCh38:
Chr2:232546067
CHRNG, TIGD1Lethal multiple pterygium syndrome, Autosomal recessive multiple pterygium syndromeUncertain significance
(Jan 12, 2018)		criteria provided, single submitter
37.
GRCh37:
Chr2:233410717
GRCh38:
Chr2:232546007
CHRNG, TIGD1Lethal multiple pterygium syndrome, Autosomal recessive multiple pterygium syndromeUncertain significance
(Jan 13, 2018)		criteria provided, single submitter
38.
GRCh37:
Chr2:233410633
GRCh38:
Chr2:232545923
TIGD1, CHRNGLethal multiple pterygium syndrome, Autosomal recessive multiple pterygium syndromeUncertain significance
(Jan 13, 2018)		criteria provided, single submitter
39.
GRCh37:
Chr2:233410627
GRCh38:
Chr2:232545917
CHRNG, TIGD1Lethal multiple pterygium syndrome, Autosomal recessive multiple pterygium syndromeUncertain significance
(Jan 13, 2018)		criteria provided, single submitter
40.
GRCh37:
Chr2:233409268
GRCh38:
Chr2:232544558
TIGD1, CHRNGLethal multiple pterygium syndrome, Autosomal recessive multiple pterygium syndromeUncertain significance
(Jan 13, 2018)		criteria provided, single submitter
41.
GRCh37:
Chr2:233406127
GRCh38:
Chr2:232541417
CHRNGV132MAutosomal recessive multiple pterygium syndrome, Lethal multiple pterygium syndromeUncertain significance
(Jan 15, 2018)		criteria provided, single submitter
42.
GRCh37:
Chr2:233404462
GRCh38:
Chr2:232539752
CHRNGH2LLethal multiple pterygium syndrome, Autosomal recessive multiple pterygium syndromeUncertain significance
(Jan 13, 2018)		criteria provided, single submitter
43.
GRCh37:
Chr2:233405312
GRCh38:
Chr2:232540602
CHRNGQ81*Autosomal recessive multiple pterygium syndromePathogenic
(Aug 6, 2019)		criteria provided, single submitter
44.
GRCh37:
Chr2:233408221
GRCh38:
Chr2:232543511
CHRNGnot provided, Autosomal recessive multiple pterygium syndromeBenign
(Nov 2, 2020)		criteria provided, multiple submitters, no conflicts
45.
GRCh37:
Chr2:233409596-233409597
GRCh38:
Chr2:232544886-232544887
TIGD1, CHRNGH457fsAutosomal recessive multiple pterygium syndromeLikely pathogenic
(Jan 29, 2019)		no assertion criteria provided
46.
GRCh37:
Chr2:233405345
GRCh38:
Chr2:232540635
CHRNGR92*not provided, Autosomal recessive multiple pterygium syndrome, Lethal multiple pterygium syndrome
Pathogenic/Likely pathogenic
(Sep 24, 2021)		criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr2:233405097
GRCh38:
Chr2:232540387
CHRNGR68*Autosomal recessive multiple pterygium syndrome, Lethal multiple pterygium syndrome, Arthrogryposis-like hand anomaly,
Ankle flexion contracture, Scoliosis, not provided
Pathogenic/Likely pathogenic
(Aug 28, 2021)		criteria provided, multiple submitters, no conflicts
48.
GRCh37:
Chr2:233405401
GRCh38:
Chr2:232540691
CHRNGnot provided, Autosomal recessive multiple pterygium syndrome, Lethal multiple pterygium syndrome
Uncertain significance
(Jan 13, 2018)		criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr2:233406191-233406192
GRCh38:
Chr2:232541481-232541482
CHRNGV154fsnot provided, CHRNG-Related Disorders, Autosomal recessive multiple pterygium syndrome,
Lethal multiple pterygium syndrome		Pathogenic
(Sep 9, 2022)		criteria provided, multiple submitters, no conflicts
50.
GRCh37:
Chr2:233405321
GRCh38:
Chr2:232540611
CHRNGD84NAutosomal recessive multiple pterygium syndrome, Lethal multiple pterygium syndromeUncertain significance
(Oct 28, 2019)		criteria provided, multiple submitters, no conflicts
51.
GRCh37:
Chr2:233406130
GRCh38:
Chr2:232541420
CHRNGS133fsnot provided, Autosomal recessive multiple pterygium syndrome, Lethal multiple pterygium syndrome
Pathogenic
(Sep 9, 2022)		criteria provided, multiple submitters, no conflicts
52.
GRCh37:
Chr2:233404776
GRCh38:
Chr2:232540066
CHRNGA44TAutosomal recessive multiple pterygium syndrome, Lethal multiple pterygium syndrome, not provided
Uncertain significance
(Jan 13, 2018)		criteria provided, multiple submitters, no conflicts
53.
GRCh37:
Chr2:233406134-233406135
GRCh38:
Chr2:232541424-232541425
CHRNGP134fsnot provided, Inborn genetic diseases, Autosomal recessive multiple pterygium syndrome,
Lethal multiple pterygium syndrome, Autosomal recessive multiple pterygium syndrome		Pathogenic
(Oct 29, 2021)		criteria provided, multiple submitters, no conflicts
54.
GRCh37:
Chr2:233405327
GRCh38:
Chr2:232540617
CHRNGR86Cnot provided, Peripheral neuropathyPathogenic/Likely pathogenic
(Feb 8, 2023)		criteria provided, multiple submitters, no conflicts
55.
GRCh37:
Chr2:233404771
GRCh38:
Chr2:232540061
CHRNGR42Qnot specified, Autosomal recessive multiple pterygium syndrome, Lethal multiple pterygium syndrome,
not provided		Conflicting interpretations of pathogenicity
(Sep 1, 2022)		criteria provided, conflicting interpretations
56.
GRCh37:
Chr2:233411018-233411019
GRCh38:
Chr2:232546308-232546309
CHRNG, TIGD1Autosomal recessive multiple pterygium syndromeUncertain significance
(Jun 14, 2016)		criteria provided, single submitter
57.
GRCh37:
Chr2:233411018-233411019
GRCh38:
Chr2:232546308-232546309
TIGD1, CHRNGAutosomal recessive multiple pterygium syndromeUncertain significance
(Jun 14, 2016)		criteria provided, single submitter
58.
GRCh37:
Chr2:233411017-233411023
GRCh38:
Chr2:232546307-232546313
TIGD1, CHRNGAutosomal recessive multiple pterygium syndromeLikely benign
(Jun 14, 2016)		criteria provided, single submitter
59.
GRCh37:
Chr2:233411016-233411017
GRCh38:
Chr2:232546306-232546307
TIGD1, CHRNGAutosomal recessive multiple pterygium syndromeUncertain significance
(Jun 14, 2016)		criteria provided, single submitter
60.
GRCh37:
Chr2:233411014-233411015
GRCh38:
Chr2:232546304-232546305
CHRNG, TIGD1Autosomal recessive multiple pterygium syndromeUncertain significance
(Jun 14, 2016)		criteria provided, single submitter
61.
GRCh37:
Chr2:233410994
GRCh38:
Chr2:232546284
TIGD1, CHRNGLethal multiple pterygium syndrome, Autosomal recessive multiple pterygium syndromeBenign
(Jan 13, 2018)		criteria provided, single submitter
62.
GRCh37:
Chr2:233410934
GRCh38:
Chr2:232546224
TIGD1, CHRNGLethal multiple pterygium syndrome, Autosomal recessive multiple pterygium syndromeUncertain significance
(Jan 13, 2018)		criteria provided, single submitter
63.
GRCh37:
Chr2:233410922
GRCh38:
Chr2:232546212
CHRNG, TIGD1Lethal multiple pterygium syndrome, Autosomal recessive multiple pterygium syndromeBenign
(Jan 13, 2018)		criteria provided, single submitter
64.
GRCh37:
Chr2:233410903
GRCh38:
Chr2:232546193
CHRNG, TIGD1Lethal multiple pterygium syndrome, Autosomal recessive multiple pterygium syndromeBenign/Likely benign
(Jan 13, 2018)		criteria provided, single submitter
65.
GRCh37:
Chr2:233410557
GRCh38:
Chr2:232545847
TIGD1, CHRNGAutosomal recessive multiple pterygium syndrome, Lethal multiple pterygium syndromeUncertain significance
(Jan 12, 2018)		criteria provided, single submitter
66.
GRCh37:
Chr2:233410552
GRCh38:
Chr2:232545842
CHRNG, TIGD1Lethal multiple pterygium syndrome, Autosomal recessive multiple pterygium syndromeUncertain significance
(Jan 12, 2018)		criteria provided, single submitter
67.
GRCh37:
Chr2:233410503
GRCh38:
Chr2:232545793
CHRNG, TIGD1Lethal multiple pterygium syndrome, Autosomal recessive multiple pterygium syndromeBenign/Likely benign
(Jan 12, 2018)		criteria provided, single submitter
68.
GRCh37:
Chr2:233410400
GRCh38:
Chr2:232545690
TIGD1, CHRNGR510CLethal multiple pterygium syndrome, Autosomal recessive multiple pterygium syndromeUncertain significance
(Jan 13, 2018)		criteria provided, single submitter
69.
GRCh37:
Chr2:233410295
GRCh38:
Chr2:232545585
CHRNG, TIGD1V475ILethal multiple pterygium syndrome, Autosomal recessive multiple pterygium syndromeUncertain significance
(Jan 12, 2018)		criteria provided, single submitter
70.
GRCh37:
Chr2:233409610
GRCh38:
Chr2:232544900
CHRNG, TIGD1N460DLethal multiple pterygium syndrome, Autosomal recessive multiple pterygium syndromeUncertain significance
(Jan 12, 2018)		criteria provided, single submitter
71.
GRCh37:
Chr2:233409491
GRCh38:
Chr2:232544781
CHRNG, TIGD1P420LLethal multiple pterygium syndrome, Autosomal recessive multiple pterygium syndromeUncertain significance
(Jan 12, 2018)		criteria provided, single submitter
72.
GRCh37:
Chr2:233409271
GRCh38:
Chr2:232544561
TIGD1, CHRNGLethal multiple pterygium syndrome, Autosomal recessive multiple pterygium syndromeUncertain significance
(Jan 13, 2018)		criteria provided, single submitter
73.
GRCh37:
Chr2:233409254
GRCh38:
Chr2:232544544
TIGD1, CHRNGR405WLethal multiple pterygium syndrome, Autosomal recessive multiple pterygium syndromeUncertain significance
(Jan 13, 2018)		criteria provided, single submitter
74.
GRCh37:
Chr2:233409115
GRCh38:
Chr2:232544405
CHRNG, TIGD1not provided, Lethal multiple pterygium syndrome, Autosomal recessive multiple pterygium syndrome
Conflicting interpretations of pathogenicity
(May 31, 2018)		criteria provided, conflicting interpretations
75.
GRCh37:
Chr2:233409069-233409070
GRCh38:
Chr2:232544359-232544360
TIGD1, CHRNGAutosomal recessive multiple pterygium syndromeUncertain significance
(Jun 14, 2016)		criteria provided, single submitter
76.
GRCh37:
Chr2:233408404
GRCh38:
Chr2:232543694
CHRNGR344CLethal multiple pterygium syndrome, Autosomal recessive multiple pterygium syndrome, Inborn genetic diseases
Uncertain significance
(May 27, 2022)		criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr2:233408302
GRCh38:
Chr2:232543592
CHRNGT310SLethal multiple pterygium syndrome, Inborn genetic diseases, Autosomal recessive multiple pterygium syndrome
Uncertain significance
(Aug 10, 2021)		criteria provided, multiple submitters, no conflicts
78.
GRCh37:
Chr2:233407972
GRCh38:
Chr2:232543262
CHRNGLethal multiple pterygium syndrome, Autosomal recessive multiple pterygium syndromeUncertain significance
(Jan 13, 2018)		criteria provided, single submitter
79.
GRCh37:
Chr2:233407724
GRCh38:
Chr2:232543014
CHRNGI246NLethal multiple pterygium syndrome, Inborn genetic diseases, Autosomal recessive multiple pterygium syndrome
Uncertain significance
(Nov 10, 2022)		criteria provided, multiple submitters, no conflicts
80.
GRCh37:
Chr2:233406207
GRCh38:
Chr2:232541497
CHRNGLethal multiple pterygium syndrome, Autosomal recessive multiple pterygium syndromeUncertain significance
(Jan 13, 2018)		criteria provided, single submitter
81.
GRCh37:
Chr2:233406193
GRCh38:
Chr2:232541483
CHRNGV154ILethal multiple pterygium syndrome, Autosomal recessive multiple pterygium syndrome, Inborn genetic diseases
Uncertain significance
(Oct 3, 2022)		criteria provided, multiple submitters, no conflicts
82.
GRCh37:
Chr2:233406100
GRCh38:
Chr2:232541390
CHRNGE123KLethal multiple pterygium syndrome, Autosomal recessive multiple pterygium syndromeUncertain significance
(Jan 12, 2018)		criteria provided, single submitter
83.
GRCh37:
Chr2:233406090
GRCh38:
Chr2:232541380
CHRNGLethal multiple pterygium syndrome, Autosomal recessive multiple pterygium syndromeUncertain significance
(Jan 13, 2018)		criteria provided, single submitter
84.
GRCh37:
Chr2:233405082
GRCh38:
Chr2:232540372
CHRNGLethal multiple pterygium syndrome, Autosomal recessive multiple pterygium syndromeUncertain significance
(Jan 13, 2018)		criteria provided, single submitter
85.
GRCh37:
Chr2:233404775
GRCh38:
Chr2:232540065
CHRNGnot provided, Lethal multiple pterygium syndrome, Autosomal recessive multiple pterygium syndrome
Conflicting interpretations of pathogenicity
(Jun 23, 2018)		criteria provided, conflicting interpretations
86.
GRCh37:
Chr2:233404703
GRCh38:
Chr2:232539993
CHRNGLethal multiple pterygium syndrome, Autosomal recessive multiple pterygium syndromeUncertain significance
(Jan 12, 2018)		criteria provided, single submitter
87.
GRCh37:
Chr2:233401047
GRCh38:
Chr2:232536337
CHRNDCongenital Myasthenic Syndrome, Dominant/Recessive, not provided, Congenital myasthenic syndrome,
Lethal multiple pterygium syndrome, Autosomal recessive multiple pterygium syndrome		Benign/Likely benign
(May 10, 2021)		criteria provided, multiple submitters, no conflicts
88.
GRCh37:
Chr2:233400907
GRCh38:
Chr2:232536197
CHRNG, CHRNDCongenital myasthenic syndrome, not provided, Lethal multiple pterygium syndrome,
Congenital Myasthenic Syndrome, Dominant/Recessive, Autosomal recessive multiple pterygium syndrome		Benign/Likely benign
(May 10, 2021)		criteria provided, multiple submitters, no conflicts
89.
GRCh37:
Chr2:233400643-233400644
GRCh38:
Chr2:232535933-232535934
CHRNDCongenital Myasthenic Syndrome, Dominant/Recessive, Autosomal recessive multiple pterygium syndromeUncertain significance
(Jun 14, 2016)		criteria provided, single submitter
90.
GRCh37:
Chr2:233400569
GRCh38:
Chr2:232535859
CHRNG, CHRNDCongenital myasthenic syndrome, not provided, Lethal multiple pterygium syndrome,
Congenital Myasthenic Syndrome, Dominant/Recessive, Autosomal recessive multiple pterygium syndrome		Benign/Likely benign
(May 11, 2021)		criteria provided, multiple submitters, no conflicts
91.
GRCh37:
Chr2:233400446
GRCh38:
Chr2:232535736
CHRNDCongenital myasthenic syndrome, not provided, Lethal multiple pterygium syndrome,
Congenital Myasthenic Syndrome, Dominant/Recessive, Autosomal recessive multiple pterygium syndrome		Benign/Likely benign
(May 10, 2021)		criteria provided, multiple submitters, no conflicts
92.
GRCh37:
Chr2:233400171
GRCh38:
Chr2:232535461
CHRNDCongenital myasthenic syndrome, Lethal multiple pterygium syndrome, Congenital Myasthenic Syndrome, Dominant/Recessive,
Autosomal recessive multiple pterygium syndrome		Conflicting interpretations of pathogenicity
(Jan 12, 2018)		criteria provided, conflicting interpretations
93.
GRCh37:
Chr2:233400165-233400166
GRCh38:
Chr2:232535455-232535456
CHRNDCongenital Myasthenic Syndrome, Dominant/Recessive, Autosomal recessive multiple pterygium syndromeUncertain significance
(Jun 14, 2016)		criteria provided, single submitter
94.
GRCh37:
Chr2:233400074
GRCh38:
Chr2:232535364
CHRND, CHRNGCongenital myasthenic syndrome, not provided, Lethal multiple pterygium syndrome,
Congenital Myasthenic Syndrome, Dominant/Recessive, Autosomal recessive multiple pterygium syndrome		Benign/Likely benign
(Jun 28, 2018)		criteria provided, multiple submitters, no conflicts
95.
GRCh37:
Chr2:175614909-175614910
GRCh38:
Chr2:174750181-174750182
CHRNA1Autosomal recessive multiple pterygium syndrome, Congenital Myasthenic Syndrome, Dominant/Recessive, not provided
Benign
(May 29, 2018)		criteria provided, multiple submitters, no conflicts
96.
GRCh37:
Chr2:175614909
GRCh38:
Chr2:174750181
CHRNA1Congenital Myasthenic Syndrome, Dominant/Recessive, Autosomal recessive multiple pterygium syndrome, not provided
Conflicting interpretations of pathogenicity
(Nov 2, 2019)		criteria provided, conflicting interpretations
97.
GRCh37:
Chr2:175614908-175614909
GRCh38:
Chr2:174750180-174750181
CHRNA1Congenital Myasthenic Syndrome, Dominant/Recessive, Lethal multiple pterygium syndrome, Autosomal recessive multiple pterygium syndrome
Conflicting interpretations of pathogenicity
(Jul 1, 2022)		criteria provided, conflicting interpretations
98.
GRCh37:
Chr2:233410253
GRCh38:
Chr2:232545543
CHRNG, TIGD1G461Rnot specified, not provided, Autosomal recessive multiple pterygium syndrome,
Lethal multiple pterygium syndrome		Conflicting interpretations of pathogenicity
(Sep 17, 2020)		criteria provided, conflicting interpretations
99.
GRCh37:
Chr2:233407650
GRCh38:
Chr2:232542940
CHRNGnot provided, Lethal multiple pterygium syndrome, Autosomal recessive multiple pterygium syndrome
Conflicting interpretations of pathogenicity
(Dec 31, 2019)		criteria provided, conflicting interpretations
100.
GRCh37:
Chr2:233408092
GRCh38:
Chr2:232543382
CHRNGI305VLethal multiple pterygium syndrome, Autosomal recessive multiple pterygium syndrome, not provided
Uncertain significance
(Jan 13, 2018)		criteria provided, multiple submitters, no conflicts
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