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Links from MedGen

Items: 13

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr7:103018096
GRCh38:
Chr7:103377649
SLC26A5F614L, F646LAutosomal recessive nonsyndromic hearing loss 61Uncertain significance
(May 23, 2019)
criteria provided, single submitter
2.
GRCh37:
Chr7:103033424
GRCh38:
Chr7:103392977
SLC26A5T354Nnot provided, Autosomal recessive nonsyndromic hearing loss 61Uncertain significance
(Mar 2, 2022)
criteria provided, multiple submitters, no conflicts
3.
GRCh37:
Chr7:103038401
GRCh38:
Chr7:103397954
SLC26A5V317fsAutosomal recessive nonsyndromic hearing loss 61Pathogeniccriteria provided, single submitter
4.
GRCh37:
Chr7:103018016
GRCh38:
Chr7:103377569
SLC26A5Autosomal recessive nonsyndromic hearing loss 61, not providedBenign
(Jul 15, 2021)
criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr7:103061870
GRCh38:
Chr7:103421423
SLC26A5R31TAutosomal recessive nonsyndromic hearing loss 61Uncertain significance
(Jan 1, 2018)
criteria provided, single submitter
6.
GRCh37:
Chr7:103015015
GRCh38:
Chr7:103374568
SLC26A5R689Q, R657Qnot provided, Autosomal recessive nonsyndromic hearing loss 61Uncertain significance
(Jan 12, 2022)
criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr7:103061825
GRCh38:
Chr7:103421378
SLC26A5L46Pnot specified, not provided, Autosomal recessive nonsyndromic hearing loss 61
Benign/Likely benign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr7:103061268
GRCh38:
Chr7:103420821
SLC26A5W70*Autosomal recessive nonsyndromic hearing loss 61Pathogenic
(Oct 28, 2013)
no assertion criteria provided
9.
GRCh37:
Chr7:103053462
GRCh38:
Chr7:103413015
SLC26A5R130SAutosomal recessive nonsyndromic hearing loss 61Pathogenic
(Oct 28, 2013)
no assertion criteria provided
10.
GRCh37:
Chr7:103033496
GRCh38:
Chr7:103393049
SLC26A5N330Snot specified, not provided, Autosomal recessive nonsyndromic hearing loss 61
Benign
(Oct 25, 2022)
criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr7:103053435
GRCh38:
Chr7:103412988
SLC26A5not specified, not provided, Autosomal recessive nonsyndromic hearing loss 61
Benign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr7:103062016
GRCh38:
Chr7:103421569
SLC26A5not specified, Autosomal recessive nonsyndromic hearing loss 61Benign/Likely benign
(Dec 27, 2021)
criteria provided, multiple submitters, no conflicts
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