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Links from MedGen

Items: 93

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr2:223158963
GRCh38:
Chr2:222294244
PAX3A170D, A169DWaardenburg syndrome type 1Uncertain significancecriteria provided, single submitter
2.
GRCh37:
Chr2:223096987
GRCh38:
Chr2:222232268
PAX3S200*, S201*Waardenburg syndrome type 1Likely pathogenic
(Jul 1, 2023)		criteria provided, single submitter
3.
GRCh37:
Chr2:223096901
GRCh38:
Chr2:222232182
PAX3Q229K, Q230KWaardenburg syndrome type 1Likely pathogenic
(Mar 22, 2022)		criteria provided, single submitter
4.
GRCh37:
Chr2:222902251-226084516
ACSL3, AP1S3, CCDC140, CUL3, DOCK10, FAM124B, FARSB, KCNE4, MOGAT1, MRPL44, PAX3, SCG2, SERPINE2, SGPP2, WDFY1
Waardenburg syndrome type 1Pathogenicno assertion criteria provided
5.
GRCh37:
Chr2:223096906
GRCh38:
Chr2:222232187
PAX3A227V, A228VCraniofacial-deafness-hand syndrome, Waardenburg syndrome type 1, Waardenburg syndrome type 3
Uncertain significance
(Jun 23, 2021)		criteria provided, single submitter
6.
GRCh37:
Chr2:223096821
GRCh38:
Chr2:222232102
PAX3K256fs, K257fsWaardenburg syndrome type 1Likely pathogenic
(May 22, 2022)		criteria provided, single submitter
7.
GRCh37:
Chr2:223096876
GRCh38:
Chr2:222232157
PAX3F237S, F238SWaardenburg syndrome type 1Pathogenic
(May 20, 2022)		no assertion criteria provided
8.
GRCh37:
Chr2:223086090
GRCh38:
Chr2:222221371
PAX3R269P, R270PWaardenburg syndrome type 1Likely pathogenic
(Aug 12, 2021)		no assertion criteria provided
9.
GRCh37:
Chr2:223084996
GRCh38:
Chr2:222220277
LOC126806529, PAX3S345P, S346Pnot provided, Alveolar rhabdomyosarcoma, Waardenburg syndrome type 3,
Waardenburg syndrome type 1, Craniofacial-deafness-hand syndrome		Uncertain significance
(Dec 9, 2021)		criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr2:223161816
GRCh38:
Chr2:222297097
PAX3R68WWaardenburg syndrome type 1Likely pathogenic
(Aug 1, 2020)		criteria provided, single submitter
11.
GRCh37:
Chr2:223158884
GRCh38:
Chr2:222294165
PAX3Waardenburg syndrome type 1Pathogeniccriteria provided, single submitter
12.
GRCh37:
Chr2:223161737
GRCh38:
Chr2:222297018
PAX3G94VWaardenburg syndrome type 1Likely pathogeniccriteria provided, single submitter
13.
GRCh37:
Chr2:223160325-223160326
GRCh38:
Chr2:222295606-222295607
PAX3N124fs, N125fsWaardenburg syndrome type 1Pathogenic
(Jul 1, 2021)		no assertion criteria provided
14.
GRCh37:
Chr22:38379525
GRCh38:
Chr22:37983518
POLR2F, SOX10M90fsPCWH syndrome, Waardenburg syndrome type 1Pathogenic
(Apr 26, 2021)		no assertion criteria provided
15.
GRCh37:
Chr22:38379492-38379493
GRCh38:
Chr22:37983485-37983486
POLR2F, SOX10S100fsWaardenburg syndrome type 1Pathogenic
(Apr 26, 2021)		no assertion criteria provided
16.
GRCh37:
Chr22:38379370
GRCh38:
Chr22:37983363
POLR2F, SOX10L141PWaardenburg syndrome type 1Likely pathogenic
(Apr 26, 2021)		no assertion criteria provided
17.
GRCh37:
Chr22:38379456
GRCh38:
Chr22:37983449
POLR2F, SOX10M112IWaardenburg syndrome type 1Pathogenic
(Apr 26, 2021)		no assertion criteria provided
18.
GRCh37:
Chr22:38379416-38379426
GRCh38:
Chr22:37983409-37983419
POLR2F, SOX10A123fsWaardenburg syndrome type 1Pathogenic
(Apr 26, 2021)		no assertion criteria provided
19.
GRCh37:
Chr22:38379457
GRCh38:
Chr22:37983450
POLR2F, SOX10M112TWaardenburg syndrome type 1Likely pathogenic
(Apr 26, 2021)		no assertion criteria provided
20.
GRCh37:
Chr2:223160331-223160332
GRCh38:
Chr2:222295612-222295613
PAX3N124fs, N125fsWaardenburg syndrome type 1Pathogeniccriteria provided, single submitter
21.
GRCh37:
Chr2:223161852
GRCh38:
Chr2:222297133
PAX3R56CWaardenburg syndrome type 1Likely pathogeniccriteria provided, single submitter
22.
GRCh37:
Chr2:223161895
GRCh38:
Chr2:222297176
PAX3G42fsWaardenburg syndrome type 1Pathogeniccriteria provided, single submitter
23.
GRCh37:
Chr2:223065952
GRCh38:
Chr2:222201233
PAX3Q487*Waardenburg syndrome type 1Pathogeniccriteria provided, single submitter
24.
GRCh37:
Chr2:223161875
GRCh38:
Chr2:222297156
PAX3G48fsWaardenburg syndrome type 1Pathogenic
(Jan 1, 2019)		criteria provided, single submitter
25.
GRCh37:
Chr2:222199886-222298997
EPHA4, PAX3Waardenburg syndrome type 1Pathogenic
(Jan 1, 2019)		criteria provided, single submitter
26.
GRCh37:
Chr2:223085973-223085974
GRCh38:
Chr2:222221254-222221255
PAX3E308fs, E309fsWaardenburg syndrome type 1Pathogenic
(Jan 1, 2019)		criteria provided, single submitter
27.
GRCh37:
Chr2:223096834
GRCh38:
Chr2:222232115
PAX3L251P, L252PWaardenburg syndrome type 1Likely pathogenic
(Jan 1, 2019)		criteria provided, single submitter
28.
GRCh37:
Chr2:223096883
GRCh38:
Chr2:222232164
PAX3R235S, R236SWaardenburg syndrome type 1Pathogenic
(Jan 1, 2019)		criteria provided, single submitter
29.
GRCh37:
Chr2:223096918
GRCh38:
Chr2:222232199
PAX3T223I, T224IWaardenburg syndrome type 1Pathogenic
(Jan 1, 2019)		criteria provided, single submitter
30.
GRCh37:
Chr2:223161754
GRCh38:
Chr2:222297035
PAX3Waardenburg syndrome type 1Pathogenic
(Jan 1, 2019)		criteria provided, single submitter
31.
GRCh37:
Chr2:223161777
GRCh38:
Chr2:222297058
PAX3G81RWaardenburg syndrome type 1Pathogenic
(Jan 1, 2019)		criteria provided, single submitter
32.
GRCh37:
Chr2:223161748
GRCh38:
Chr2:222297029
PAX3Y90*Intellectual disability, not provided, Waardenburg syndrome type 1
Pathogenic/Likely pathogenic
(Jan 23, 2023)		criteria provided, multiple submitters, no conflicts
33.
GRCh37:
Chr2:223161891
GRCh38:
Chr2:222297172
PAX3G43CWaardenburg syndrome type 1Pathogenic
(Feb 26, 2020)		no assertion criteria provided
34.
GRCh37:
Chr22:38369723-38369724
GRCh38:
Chr22:37973716-37973717
POLR2F, SOX10S394fsnot providedLikely pathogenic
(Jul 26, 2018)		criteria provided, single submitter
35.
GRCh37:
Chr2:223161779
GRCh38:
Chr2:222297060
PAX3H80RWaardenburg syndrome type 1Likely pathogenic
(May 28, 2019)		criteria provided, single submitter
36.
GRCh37:
Chr2:223066124
GRCh38:
Chr2:222201405
PAX3Waardenburg syndrome type 1Uncertain significance
(Jan 29, 2019)		no assertion criteria provided
37.
GRCh37:
Chr2:223084955-223084956
GRCh38:
Chr2:222220236-222220237
LOC126806529, PAX3T359fs, T358fsWaardenburg syndrome type 1Pathogenic
(Dec 26, 2019)		no assertion criteria provided
38.
GRCh37:
Chr2:223066707-223066708
GRCh38:
Chr2:222201988-222201989
PAX3S459fs, S458fsWaardenburg syndrome type 1Likely pathogenic
(Nov 1, 2016)		criteria provided, single submitter
39.
GRCh37:
Chr2:223066806
GRCh38:
Chr2:222202087
PAX3S426*, S425*Waardenburg syndrome type 1Likely pathogenic
(Nov 1, 2016)		criteria provided, single submitter
40.
GRCh37:
Chr2:223085011
GRCh38:
Chr2:222220292
LOC126806529, PAX3Q341*, Q340*Waardenburg syndrome type 1Likely pathogenic
(Nov 1, 2016)		criteria provided, single submitter
41.
GRCh37:
Chr2:223085978
GRCh38:
Chr2:222221259
PAX3S307fs, S308fsWaardenburg syndrome type 1Likely pathogenic
(Nov 1, 2016)		criteria provided, single submitter
42.
GRCh37:
Chr2:223086081
GRCh38:
Chr2:222221362
PAX3R273K, R272KWaardenburg syndrome type 1Uncertain significance
(Nov 1, 2016)		criteria provided, single submitter
43.
GRCh37:
Chr2:223086088
GRCh38:
Chr2:222221369
PAX3R271C, R270Cnot provided, Waardenburg syndrome type 1Pathogenic
(Aug 31, 2021)		criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr2:223086091
GRCh38:
Chr2:222221372
PAX3R270C, R269Cnot provided, Waardenburg syndrome type 1Pathogenic/Likely pathogenic
(Jan 24, 2023)		criteria provided, multiple submitters, no conflicts
45.
GRCh37:
Chr2:223096798
GRCh38:
Chr2:222232079
PAX3Q264P, Q263PWaardenburg syndrome type 1Likely pathogenic
(Nov 1, 2016)		criteria provided, single submitter
46.
GRCh37:
Chr2:223096859
GRCh38:
Chr2:222232140
PAX3P244S, P243SWaardenburg syndrome type 1Uncertain significance
(Nov 1, 2016)		criteria provided, single submitter
47.
GRCh37:
Chr2:223096897
GRCh38:
Chr2:222232178
PAX3L231P, L230PWaardenburg syndrome type 1Likely pathogenic
(Nov 1, 2016)		criteria provided, single submitter
48.
GRCh37:
Chr2:223158941-223158942
GRCh38:
Chr2:222294222-222294223
PAX3Waardenburg syndrome type 1Likely pathogenic
(Nov 1, 2016)		criteria provided, single submitter
49.
GRCh37:
Chr2:223158947-223158948
GRCh38:
Chr2:222294228-222294229
PAX3E176fs, E175fsWaardenburg syndrome type 1Likely pathogenic
(Nov 1, 2016)		criteria provided, single submitter
50.
GRCh37:
Chr2:223158988-223158990
GRCh38:
Chr2:222294269-222294271
PAX3K161fs, K160fsWaardenburg syndrome type 1Likely pathogenic
(Nov 1, 2016)		criteria provided, single submitter
51.
GRCh37:
Chr2:223159029
GRCh38:
Chr2:222294310
PAX3not provided, Waardenburg syndrome type 1Conflicting interpretations of pathogenicity
(Nov 27, 2022)		criteria provided, conflicting interpretations
52.
GRCh37:
Chr2:223161725
GRCh38:
Chr2:222297006
PAX3P98LWaardenburg syndrome type 1Uncertain significance
(Nov 1, 2016)		criteria provided, single submitter
53.
GRCh37:
Chr2:223161749
GRCh38:
Chr2:222297030
PAX3Y90CWaardenburg syndrome type 1Likely pathogenic
(Nov 1, 2016)		criteria provided, single submitter
54.
GRCh37:
Chr2:223161772
GRCh38:
Chr2:222297053
PAX3C82*Waardenburg syndrome type 1Likely pathogenic
(Nov 1, 2016)		criteria provided, single submitter
55.
GRCh37:
Chr2:223161786
GRCh38:
Chr2:222297067
PAX3V78LWaardenburg syndrome type 1Likely pathogenic
(Nov 1, 2016)		criteria provided, single submitter
56.
GRCh37:
Chr2:223161791
GRCh38:
Chr2:222297072
PAX3L76RWaardenburg syndrome type 1Uncertain significance
(Nov 1, 2016)		criteria provided, single submitter
57.
GRCh37:
Chr2:223161800
GRCh38:
Chr2:222297081
PAX3S73LWaardenburg syndrome type 1Pathogenic
(Nov 1, 2016)		criteria provided, single submitter
58.
GRCh37:
Chr2:223161808
GRCh38:
Chr2:222297089
PAX3C70*not provided, Waardenburg syndrome type 1Pathogenic/Likely pathogenic
(Sep 23, 2022)		criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr2:223161881-223161882
GRCh38:
Chr2:222297162-222297163
PAX3I46fsnot provided, Waardenburg syndrome type 1Pathogenic/Likely pathogenic
(Jul 25, 2022)		criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr2:223161934
GRCh38:
Chr2:222297215
PAX3not provided, Waardenburg syndrome type 1Pathogenic/Likely pathogenic
(Sep 2, 2021)		criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr2:223161762
GRCh38:
Chr2:222297043
PAX3I86FWaardenburg syndrome type 1Likely pathogenic
(May 15, 2018)		no assertion criteria provided
62.
GRCh37:
Chr2:223066853
GRCh38:
Chr2:222202134
PAX3Y410*, Y409*Waardenburg syndrome type 1Pathogenic
(May 15, 2018)		no assertion criteria provided
63.
GRCh37:
Chr3:70005682
GRCh38:
Chr3:69956531
MITFnot provided, Waardenburg syndrome type 2APathogenic
(Sep 25, 2023)		criteria provided, multiple submitters, no conflicts
64.
GRCh37:
Chr2:223086019-223086020
GRCh38:
Chr2:222221300-222221301
PAX3F294fs, F293fsnot provided, Rare genetic deafness, Waardenburg syndrome,
Waardenburg syndrome type 1		Pathogenic
(Sep 19, 2022)		criteria provided, multiple submitters, no conflicts
65.
GRCh37:
Chr2:223158932
GRCh38:
Chr2:222294213
PAX3S180R, S179Rnot specified, Waardenburg syndrome type 3, Alveolar rhabdomyosarcoma,
Waardenburg syndrome type 1, Craniofacial-deafness-hand syndrome		Uncertain significance
(Oct 31, 2018)		criteria provided, multiple submitters, no conflicts
66.
GRCh37:
Chr2:223158892
GRCh38:
Chr2:222294173
PAX3E194K, E193Knot provided, Waardenburg syndrome type 1, Craniofacial-deafness-hand syndrome,
Alveolar rhabdomyosarcoma, Waardenburg syndrome type 3, Waardenburg syndrome,
not specified, Craniofacial-deafness-hand syndrome		Conflicting interpretations of pathogenicity
(May 25, 2022)		criteria provided, conflicting interpretations
67.
GRCh37:
Chr2:223096922
GRCh38:
Chr2:222232203
PAX3R223*, R222*Waardenburg syndrome type 1, Waardenburg syndrome type 3, not provided
Pathogenic
(May 26, 2022)		criteria provided, multiple submitters, no conflicts
68.
GRCh37:
Chr2:223066888
GRCh38:
Chr2:222202169
PAX3H399D, H398DWaardenburg syndrome type 1Likely benign
(Mar 1, 2017)		criteria provided, single submitter
69.
GRCh37:
Chr2:223161876
GRCh38:
Chr2:222297157
PAX3G48RWaardenburg syndrome type 1, not providedPathogenic/Likely pathogenic
(Jul 11, 2022)		criteria provided, multiple submitters, no conflicts
70.
GRCh37:
Chr2:223159008
GRCh38:
Chr2:222294289
PAX3S155fs, S154fsWaardenburg syndrome type 1Likely pathogenic
(Mar 1, 2017)		criteria provided, single submitter
71.
GRCh37:
Chr2:223096799
GRCh38:
Chr2:222232080
PAX3Q264*, Q263*Waardenburg syndrome type 1Likely pathogenic
(Mar 1, 2017)		criteria provided, single submitter
72.
GRCh37:
Chr2:223161858-223161869
GRCh38:
Chr2:222297139-222297150
PAX3Waardenburg syndrome type 1Likely pathogenic
(Mar 1, 2017)		criteria provided, single submitter
73.
GRCh37:
Chr2:223161894
GRCh38:
Chr2:222297175
PAX3G42RWaardenburg syndrome type 1, Intellectual disability, not provided
Likely pathogenic
(Oct 13, 2022)		criteria provided, multiple submitters, no conflicts
74.
GRCh37:
Chr2:223096850-223096862
GRCh38:
Chr2:222232131-222232143
PAX3Y242fs, Y243fsWaardenburg syndrome type 1Likely pathogenic
(Mar 1, 2017)		criteria provided, single submitter
75.
GRCh37:
Chr2:223161876
GRCh38:
Chr2:222297157
PAX3G48CWaardenburg syndrome type 1, Waardenburg syndrome type 3Conflicting interpretations of pathogenicity
(Dec 14, 2021)		criteria provided, conflicting interpretations
76.
GRCh37:
Chr2:223096805
GRCh38:
Chr2:222232086
PAX3R262*, R261*not provided, Waardenburg syndrome type 1Pathogenic
(Jan 1, 2019)		criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr2:223086087
GRCh38:
Chr2:222221368
PAX3R271H, R270HAlveolar rhabdomyosarcoma, Craniofacial-deafness-hand syndrome, Waardenburg syndrome type 1,
Waardenburg syndrome type 3, not provided, Waardenburg syndrome type 1
Pathogenic
(Jun 7, 2023)		criteria provided, multiple submitters, no conflicts
78.
GRCh37:
Chr2:223160283
GRCh38:
Chr2:222295564
PAX3K139*, K138*Waardenburg syndrome type 1Pathogenic
(Mar 10, 2016)		no assertion criteria provided
79.
GRCh37:
Chr2:223158947
GRCh38:
Chr2:222294228
PAX3K175N, K174NWaardenburg syndrome, not specified, Waardenburg syndrome type 1,
Craniofacial-deafness-hand syndrome, not provided		Benign/Likely benign
(Sep 1, 2022)		criteria provided, multiple submitters, no conflicts
80.
GRCh37:
Chr2:223085955
GRCh38:
Chr2:222221236
PAX3T315K, T314KWaardenburg syndrome type 1, Craniofacial-deafness-hand syndrome, Waardenburg syndrome,
not specified, not provided, Congenital diaphragmatic hernia
Conflicting interpretations of pathogenicity
(Nov 3, 2022)		criteria provided, conflicting interpretations
81.
GRCh37:
Chr2:223161889
GRCh38:
Chr2:222297170
PAX3Waardenburg syndrome, not specified, not provided,
Waardenburg syndrome type 1, Waardenburg syndrome type 3, Craniofacial-deafness-hand syndrome
Benign
(Nov 1, 2022)		criteria provided, multiple submitters, no conflicts
82.
GRCh37:
Chr2:223161777
GRCh38:
Chr2:222297058
PAX3G81Cnot provided, Waardenburg syndrome type 1Conflicting interpretations of pathogenicity
(Oct 13, 2022)		criteria provided, conflicting interpretations
83.
GRCh37:
Chr2:223158916
GRCh38:
Chr2:222294197
PAX3H186fs, H185fsWaardenburg syndrome type 1Pathogenic
(Mar 1, 2012)		no assertion criteria provided
84.
GRCh37:
Chr2:223161780
GRCh38:
Chr2:222297061
PAX3H80DWaardenburg syndrome type 1Pathogenic
(Mar 1, 2012)		no assertion criteria provided
85.
GRCh37:
Chr2:223161851
GRCh38:
Chr2:222297132
PAX3R56LWaardenburg syndrome, not providedPathogenic/Likely pathogenic
(Sep 1, 2021)		criteria provided, multiple submitters, no conflicts
86.
GRCh37:
Chr2:223161767
GRCh38:
Chr2:222297048
PAX3S84FWaardenburg syndrome type 1Pathogenic
(Aug 1, 2020)		criteria provided, single submitter
87.
GRCh37:
Chr2:223160329-223160333
GRCh38:
Chr2:222295610-222295614
PAX3K122fs, K121fsWaardenburg syndrome type 1Pathogenic
(Jan 1, 1995)		no assertion criteria provided
88.
GRCh37:
Chr2:223161776
GRCh38:
Chr2:222297057
PAX3G81Anot providedPathogenic
(Aug 9, 2022)		criteria provided, single submitter
89.
GRCh37:
Chr2:223158913-223158914
GRCh38:
Chr2:222294194-222294195
PAX3H185fs, H186fsnot providedPathogenic
(Feb 1, 2022)		criteria provided, multiple submitters, no conflicts
90.
GRCh37:
Chr2:223161730
GRCh38:
Chr2:222297011
PAX3R97fsWaardenburg syndrome type 1Pathogenic
(Jan 1, 1993)		no assertion criteria provided
91.
GRCh37:
Chr2:223161737-223161750
GRCh38:
Chr2:222297018-222297031
PAX3Y90fsWaardenburg syndrome type 1Pathogenic
(Jul 1, 1992)		no assertion criteria provided
92.
GRCh37:
Chr2:223161869
GRCh38:
Chr2:222297150
PAX3P50LWaardenburg syndrome type 1Pathogenic
(Feb 13, 1992)		no assertion criteria provided
93.
GRCh37:
Chr2:223161816-223161833
GRCh38:
Chr2:222297097-222297114
PAX3Waardenburg syndrome type 1Pathogenic
(Feb 13, 1992)		no assertion criteria provided
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