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Links from MedGen

Items: 24

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr8:72109661
GRCh38:
Chr8:71197426
EYA1Branchiootorenal Spectrum Disorders, Otofaciocervical syndrome 1Likely benign
(Jun 14, 2016)
criteria provided, single submitter
2.
GRCh37:
Chr14:61116162
GRCh38:
Chr14:60649444
SIX1Nonsyndromic Hearing Loss, Dominant, Branchiootorenal Spectrum DisordersLikely benign
(Jun 14, 2016)
criteria provided, single submitter
3.
GRCh37:
Chr8:72274417
GRCh38:
Chr8:71362182
EYA1Otofaciocervical syndrome 1, Branchiootorenal Spectrum DisordersUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
4.
GRCh37:
Chr8:72274416
GRCh38:
Chr8:71362181
EYA1Otofaciocervical syndrome 1, Branchiootorenal Spectrum DisordersUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
5.
GRCh37:
Chr8:72274390-72274391
GRCh38:
Chr8:71362155-71362156
EYA1Otofaciocervical syndrome 1, Branchiootorenal Spectrum DisordersUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
6.
GRCh37:
Chr8:72274391-72274392
GRCh38:
Chr8:71362156-71362157
EYA1Otofaciocervical syndrome 1, Branchiootorenal Spectrum DisordersUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
7.
GRCh37:
Chr8:72274389-72274390
GRCh38:
Chr8:71362154-71362155
EYA1Otofaciocervical syndrome 1, Branchiootorenal Spectrum DisordersUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
8.
GRCh37:
Chr8:72274335
GRCh38:
Chr8:71362100
EYA1Otofaciocervical syndrome 1, Branchiootorenal Spectrum DisordersUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
9.
GRCh37:
Chr8:72111063-72111066
GRCh38:
Chr8:71198828-71198831
EYA1Branchiootorenal Spectrum Disorders, Otofaciocervical syndrome 1Benign
(Jun 14, 2016)
criteria provided, single submitter
10.
GRCh37:
Chr8:72110801-72110802
GRCh38:
Chr8:71198566-71198567
EYA1Branchiootorenal Spectrum Disorders, Otofaciocervical syndrome 1Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
11.
GRCh37:
Chr8:72110673-72110674
GRCh38:
Chr8:71198438-71198439
EYA1Branchiootorenal Spectrum Disorders, Otofaciocervical syndrome 1Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
12.
GRCh37:
Chr8:72110436-72110437
GRCh38:
Chr8:71198201-71198202
EYA1Branchiootorenal Spectrum Disorders, Otofaciocervical syndrome 1Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
13.
GRCh37:
Chr8:72110353-72110355
GRCh38:
Chr8:71198118-71198120
EYA1Branchiootorenal Spectrum Disorders, Otofaciocervical syndrome 1Likely benign
(Jun 14, 2016)
criteria provided, single submitter
14.
GRCh37:
Chr8:72110199-72110200
GRCh38:
Chr8:71197964-71197965
EYA1Branchiootorenal Spectrum Disorders, Otofaciocervical syndrome 1Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
15.
GRCh37:
Chr8:72110006-72110007
GRCh38:
Chr8:71197771-71197772
EYA1Branchiootorenal Spectrum Disorders, Otofaciocervical syndrome 1Likely benign
(Jun 14, 2016)
criteria provided, single submitter
16.
GRCh37:
Chr14:61112736
GRCh38:
Chr14:60646018
SIX1Nonsyndromic Hearing Loss, Dominant, Branchiootorenal Spectrum Disorders, not provided
Benign
(Aug 10, 2019)
criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr14:61112722-61112725
GRCh38:
Chr14:60646004-60646007
SIX1Nonsyndromic Hearing Loss, Dominant, Branchiootorenal Spectrum DisordersUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
18.
GRCh37:
Chr14:61112420-61112423
GRCh38:
Chr14:60645702-60645705
SIX1Nonsyndromic Hearing Loss, Dominant, Branchiootorenal Spectrum DisordersLikely benign
(Jun 14, 2016)
criteria provided, single submitter
19.
GRCh37:
Chr14:61112235-61112236
GRCh38:
Chr14:60645517-60645518
SIX1Nonsyndromic Hearing Loss, Dominant, Branchiootorenal Spectrum DisordersUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
20.
GRCh37:
Chr14:61112235
GRCh38:
Chr14:60645517
SIX1Nonsyndromic Hearing Loss, Dominant, Branchiootorenal Spectrum DisordersBenign
(Jun 14, 2016)
criteria provided, single submitter
21.
GRCh37:
Chr14:61112105-61112111
GRCh38:
Chr14:60645387-60645393
SIX1Nonsyndromic Hearing Loss, Dominant, Branchiootorenal Spectrum DisordersLikely benign
(Jun 14, 2016)
criteria provided, single submitter
22.
GRCh37:
Chr14:61111993
GRCh38:
Chr14:60645275
SIX1Nonsyndromic Hearing Loss, Dominant, Branchiootorenal Spectrum DisordersLikely benign
(Jun 14, 2016)
criteria provided, single submitter
23.
GRCh37:
Chr14:61111730-61111731
GRCh38:
Chr14:60645012-60645013
SIX1Nonsyndromic Hearing Loss, Dominant, Branchiootorenal Spectrum DisordersUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
24.
GRCh37:
Chr14:61111430
GRCh38:
Chr14:60644712
SIX1Nonsyndromic Hearing Loss, Dominant, Branchiootorenal Spectrum DisordersUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
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