ClinVar for MedGen (Select 330834) - ClinVar - NCBI

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Items: 14

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25791421.	NM_170682.4(P2RX2):c.804_806del (p.Trp268_Asp269delinsCys) GRCh37: Chr12:133197616-133197618 GRCh38: Chr12:132621030-132621032	P2RX2		Autosomal dominant nonsyndromic hearing loss 41	Uncertain significance (Aug 10, 2023)	criteria provided, single submitter
Select item 18954322.	NM_170682.4(P2RX2):c.1037C>G (p.Ala346Gly) GRCh37: Chr12:133198101 GRCh38: Chr12:132621515	P2RX2	A254G, A274G, A312G, A322G, A346G	Autosomal dominant nonsyndromic hearing loss 41	Uncertain significance (Jun 23, 2022)	criteria provided, single submitter
Select item 13340753.	NM_170682.4(P2RX2):c.490C>T (p.Gln164Ter) GRCh37: Chr12:133196618 GRCh38: Chr12:132620032	P2RX2	Q140, Q164, Q72, Q92	Autosomal dominant nonsyndromic hearing loss 41	Uncertain significance (Oct 8, 2018)	criteria provided, single submitter
Select item 12831424.	NM_170682.4(P2RX2):c.997-40C>T GRCh37: Chr12:133198021 GRCh38: Chr12:132621435	P2RX2		not provided, Autosomal dominant nonsyndromic hearing loss 41	Benign (Sep 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 11856345.	NM_170682.4(P2RX2):c.1055T>G (p.Val352Gly) GRCh37: Chr12:133198119 GRCh38: Chr12:132621533	P2RX2	V260G, V280G, V318G, V328G, V352G	Autosomal dominant nonsyndromic hearing loss 41	Uncertain significance	no assertion criteria provided
Select item 11851416.	NM_170682.4(P2RX2):c.459_554+1dup GRCh37: Chr12:133196582-133196583 GRCh38: Chr12:132619996-132619997	P2RX2		Autosomal dominant nonsyndromic hearing loss 41	Uncertain significance (Jul 1, 2021)	no assertion criteria provided
Select item 9312127.	NM_170682.4(P2RX2):c.905G>C (p.Arg302Thr) GRCh37: Chr12:133197717 GRCh38: Chr12:132621131	P2RX2	R268T, R302T, R210T, R278T, R230T	Autosomal dominant nonsyndromic hearing loss 41	Uncertain significance (Oct 1, 2019)	criteria provided, single submitter
Select item 5081048.	NM_170682.4(P2RX2):c.173+28_173+41del GRCh37: Chr12:133195580-133195593 GRCh38: Chr12:132618994-132619007	P2RX2		not provided, Autosomal dominant nonsyndromic hearing loss 41	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 5048529.	NM_170682.4(P2RX2):c.381+2T>C GRCh37: Chr12:133196338 GRCh38: Chr12:132619752	P2RX2		not specified, not provided, Autosomal dominant nonsyndromic hearing loss 41	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 22698610.	NM_170682.4(P2RX2):c.636-13G>A GRCh37: Chr12:133197018 GRCh38: Chr12:132620432	P2RX2		Autosomal dominant nonsyndromic hearing loss 41, not specified, not provided	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 22698411.	NM_170682.4(P2RX2):c.468T>C (p.Thr156=) GRCh37: Chr12:133196596 GRCh38: Chr12:132620010	P2RX2		not specified, Autosomal dominant nonsyndromic hearing loss 41, not provided	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 22698012.	NM_170682.4(P2RX2):c.1325_1335del (p.Ile441_Ser442insTer) GRCh37: Chr12:133198467-133198477 GRCh38: Chr12:132621878-132621888	P2RX2		not provided, not specified, Autosomal dominant nonsyndromic hearing loss 41	Benign/Likely benign (Oct 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 15576313.	NM_170682.4(P2RX2):c.1057G>C (p.Gly353Arg) GRCh37: Chr12:133198121 GRCh38: Chr12:132621535	P2RX2	G353R, G281R, G261R, G319R, G329R	not provided	Pathogenic (Jul 19, 2022)	criteria provided, single submitter
Select item 15576214.	NM_170682.4(P2RX2):c.178G>T (p.Val60Leu) GRCh37: Chr12:133196029 GRCh38: Chr12:132619443	P2RX2	V60L, R37L	Autosomal dominant nonsyndromic hearing loss 41	Pathogenic (Feb 5, 2013)	no assertion criteria provided