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Links from MedGen

Items: 13

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr12:133198101
GRCh38:
Chr12:132621515
P2RX2A254G, A274G, A312G, A322G, A346GAutosomal dominant nonsyndromic hearing loss 41Uncertain significance
(Jun 23, 2022)
criteria provided, single submitter
2.
GRCh37:
Chr12:133196618
GRCh38:
Chr12:132620032
P2RX2Q140*, Q164*, Q72*, Q92*Autosomal dominant nonsyndromic hearing loss 41Uncertain significance
(Oct 8, 2018)
criteria provided, single submitter
3.
GRCh37:
Chr12:133198021
GRCh38:
Chr12:132621435
P2RX2not provided, Autosomal dominant nonsyndromic hearing loss 41Benign
(Sep 5, 2021)
criteria provided, multiple submitters, no conflicts
4.
GRCh37:
Chr12:133198119
GRCh38:
Chr12:132621533
P2RX2V260G, V280G, V318G, V328G, V352GAutosomal dominant nonsyndromic hearing loss 41Uncertain significanceno assertion criteria provided
5.
GRCh37:
Chr12:133196582-133196583
GRCh38:
Chr12:132619996-132619997
P2RX2Autosomal dominant nonsyndromic hearing loss 41Uncertain significance
(Jul 1, 2021)
no assertion criteria provided
6.
GRCh37:
Chr12:133197717
GRCh38:
Chr12:132621131
P2RX2R268T, R302T, R210T, R278T, R230TAutosomal dominant nonsyndromic hearing loss 41Uncertain significance
(Oct 1, 2019)
criteria provided, single submitter
7.
GRCh37:
Chr12:133195580-133195593
GRCh38:
Chr12:132618994-132619007
P2RX2not provided, Autosomal dominant nonsyndromic hearing loss 41Benign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr12:133196338
GRCh38:
Chr12:132619752
P2RX2not provided, not specified, Autosomal dominant nonsyndromic hearing loss 41
Conflicting interpretations of pathogenicity
(Nov 1, 2022)
criteria provided, conflicting interpretations
9.
GRCh37:
Chr12:133197018
GRCh38:
Chr12:132620432
P2RX2Autosomal dominant nonsyndromic hearing loss 41, not specified, not provided
Benign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr12:133196596
GRCh38:
Chr12:132620010
P2RX2not specified, Autosomal dominant nonsyndromic hearing loss 41, not provided
Benign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr12:133198467-133198477
GRCh38:
Chr12:132621878-132621888
P2RX2not provided, not specified, Autosomal dominant nonsyndromic hearing loss 41
Benign/Likely benign
(Oct 23, 2022)
criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr12:133198121
GRCh38:
Chr12:132621535
P2RX2G353R, G281R, G261R, G319R, G329Rnot providedPathogenic
(Jul 19, 2022)
criteria provided, single submitter
13.
GRCh37:
Chr12:133196029
GRCh38:
Chr12:132619443
P2RX2V60L, R37LAutosomal dominant nonsyndromic hearing loss 41Pathogenic
(Feb 5, 2013)
no assertion criteria provided
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