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Links from MedGen

Items: 34

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr4:43022411
GRCh38:
Chr4:43020394
GRXCR1L223QAutosomal recessive nonsyndromic hearing loss 25Likely pathogenic
(Feb 28, 2023)
criteria provided, single submitter
2.
GRCh37:
Chr4:42964981
GRCh38:
Chr4:42962964
GRXCR1F153VAutosomal recessive nonsyndromic hearing loss 25Pathogenic
(Jan 1, 2023)
no assertion criteria provided
3.
GRCh37:
Chr4:42965074
GRCh38:
Chr4:42963057
GRXCR1E184*Autosomal recessive nonsyndromic hearing loss 25Pathogenic
(Feb 2, 2022)
criteria provided, single submitter
4.
GRCh37:
Chr4:42964993
GRCh38:
Chr4:42962976
GRXCR1E157*not provided, Autosomal recessive nonsyndromic hearing loss 25Pathogenic/Likely pathogenic
(Aug 24, 2022)
criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr4:43032622
GRCh38:
Chr4:43030605
GRXCR1Autosomal recessive nonsyndromic hearing loss 25Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
6.
GRCh37:
Chr4:43032563
GRCh38:
Chr4:43030546
GRXCR1Autosomal recessive nonsyndromic hearing loss 25Uncertain significance
(Feb 2, 2018)
criteria provided, single submitter
7.
GRCh37:
Chr4:42895608
GRCh38:
Chr4:42893591
GRXCR1V109Inot provided, Autosomal recessive nonsyndromic hearing loss 25Uncertain significance
(Oct 25, 2022)
criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr4:42895362
GRCh38:
Chr4:42893345
GRXCR1R27*Autosomal recessive nonsyndromic hearing loss 25, not providedPathogenic/Likely pathogenic
(Jul 15, 2021)
criteria provided, multiple submitters, no conflicts
9.
GRCh37:
Chr4:42964963
GRCh38:
Chr4:42962946
GRXCR1R147CAutosomal recessive nonsyndromic hearing loss 25, Hearing impairmentConflicting interpretations of pathogenicity
(Apr 12, 2021)
criteria provided, conflicting interpretations
10.
GRCh37:
Chr4:42964907
GRCh38:
Chr4:42962890
GRXCR1Autosomal recessive nonsyndromic hearing loss 25Pathogenic
(Sep 18, 2017)
no assertion criteria provided
11.
GRCh37:
Chr4:43032646
GRCh38:
Chr4:43030629
GRXCR1Autosomal recessive nonsyndromic hearing loss 25Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
12.
GRCh37:
Chr4:43032626
GRCh38:
Chr4:43030609
GRXCR1Autosomal recessive nonsyndromic hearing loss 25Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
13.
GRCh37:
Chr4:43032612
GRCh38:
Chr4:43030595
GRXCR1not provided, Autosomal recessive nonsyndromic hearing loss 25Benign
(Jun 24, 2018)
criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr4:43032542
GRCh38:
Chr4:43030525
GRXCR1K286NAutosomal recessive nonsyndromic hearing loss 25Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
15.
GRCh37:
Chr4:43032429
GRCh38:
Chr4:43030412
GRXCR1P249AAutosomal recessive nonsyndromic hearing loss 25Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
16.
GRCh37:
Chr4:42965128
GRCh38:
Chr4:42963111
GRXCR1F202LAutosomal recessive nonsyndromic hearing loss 25Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
17.
GRCh37:
Chr4:42965075
GRCh38:
Chr4:42963058
GRXCR1E184Vnot provided, Autosomal recessive nonsyndromic hearing loss 25Uncertain significance
(Sep 6, 2022)
criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr4:42964902
GRCh38:
Chr4:42962885
GRXCR1Autosomal recessive nonsyndromic hearing loss 25Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
19.
GRCh37:
Chr4:42895641
GRCh38:
Chr4:42893624
GRXCR1F120LAutosomal recessive nonsyndromic hearing loss 25, not specifiedUncertain significance
(Jan 13, 2018)
criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr4:42895614
GRCh38:
Chr4:42893597
GRXCR1Y111HAutosomal recessive nonsyndromic hearing loss 25, not specified, not provided
Uncertain significance
(Aug 19, 2022)
criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr4:42895572
GRCh38:
Chr4:42893555
GRXCR1V97IAutosomal recessive nonsyndromic hearing loss 25Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
22.
GRCh37:
Chr4:42895567
GRCh38:
Chr4:42893550
GRXCR1R95TAutosomal recessive nonsyndromic hearing loss 25Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
23.
GRCh37:
Chr4:42895519
GRCh38:
Chr4:42893502
GRXCR1S79NAutosomal recessive nonsyndromic hearing loss 25Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
24.
GRCh37:
Chr4:42895332
GRCh38:
Chr4:42893315
GRXCR1R17WAutosomal recessive nonsyndromic hearing loss 25, Inborn genetic diseases, not provided
Uncertain significance
(Jun 13, 2022)
criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr4:43032469
GRCh38:
Chr4:43030452
GRXCR1R262Qnot provided, Autosomal recessive nonsyndromic hearing loss 25, not specified
Conflicting interpretations of pathogenicity
(Aug 22, 2022)
criteria provided, conflicting interpretations
26.
GRCh37:
Chr4:42895555
GRCh38:
Chr4:42893538
GRXCR1G91VAutosomal recessive nonsyndromic hearing loss 25, not specified, not provided
Benign/Likely benign
(Jul 1, 2023)
criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr4:43032461
GRCh38:
Chr4:43030444
GRXCR1not specified, not provided, Autosomal recessive nonsyndromic hearing loss 25
Benign/Likely benign
(Oct 27, 2022)
criteria provided, multiple submitters, no conflicts
28.
GRCh37:
Chr4:42965159
GRCh38:
Chr4:42963142
GRXCR1not specified, not provided, Autosomal recessive nonsyndromic hearing loss 25
Benign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
29.
GRCh37:
Chr4:42895308
GRCh38:
Chr4:42893291
GRXCR1E9Knot specified, not provided, Autosomal recessive nonsyndromic hearing loss 25
Benign
(Oct 23, 2022)
criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr4:42895423
GRCh38:
Chr4:42893406
GRXCR1A47Vnot specified, not provided, Autosomal recessive nonsyndromic hearing loss 25
Benign
(Nov 2, 2022)
criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr4:42964936
GRCh38:
Chr4:42962919
GRXCR1R138Cnot providedUncertain significance
(Aug 3, 2022)
criteria provided, single submitter
32.
GRCh37:
Chr4:42895512
GRCh38:
Chr4:42893495
GRXCR1Q77*Hearing loss, autosomal recessive, Autosomal recessive nonsyndromic hearing loss 25Pathogenic/Likely pathogenic
(Jul 5, 2018)
no assertion criteria provided
33.
GRCh37:
Chr4:42965170
GRCh38:
Chr4:42963153
GRXCR1not providedUncertain significance
(Dec 2, 2022)
criteria provided, single submitter
34.
GRCh37:
Chr4:43022362
GRCh38:
Chr4:43020345
GRXCR1not providedPathogenic
(Aug 3, 2022)
criteria provided, single submitter
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