ClinVar for MedGen (Select 370208) - ClinVar

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Items: 97

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24286361.	NM_002906.4(RDX):c.1501T>C (p.Ser501Pro) GRCh37: Chr11:110104048 GRCh38: Chr11:110233323	RDX	S154P, S365P, S501P	Autosomal recessive nonsyndromic hearing loss 24	Uncertain significance (Jul 15, 2022)	criteria provided, single submitter
Select item 16987042.	NM_002906.4(RDX):c.1346del (p.Ala449fs) GRCh37: Chr11:110104203 GRCh38: Chr11:110233478	RDX	A102fs, A313fs, A449fs	Autosomal recessive nonsyndromic hearing loss 24	Pathogenic (Aug 14, 2021)	criteria provided, single submitter
Select item 13341173.	NM_002906.4(RDX):c.513_514del (p.Arg171fs) GRCh37: Chr11:110128868-110128869 GRCh38: Chr11:110258143-110258144	RDX	R171fs, R35fs	Autosomal recessive nonsyndromic hearing loss 24	Likely pathogenic (Aug 1, 2020)	criteria provided, single submitter
Select item 13332824.	NM_002906.4(RDX):c.1135C>T (p.Arg379Ter) GRCh37: Chr11:110108333 GRCh38: Chr11:110237608	RDX	R243, R32, R379*	Autosomal recessive nonsyndromic hearing loss 24	Likely pathogenic (Jan 3, 2022)	criteria provided, single submitter
Select item 13250005.	NM_002906.4(RDX):c.1141C>T (p.Arg381Ter) GRCh37: Chr11:110108327 GRCh38: Chr11:110237602	RDX	R245, R34, R381*	Autosomal recessive nonsyndromic hearing loss 24	Likely pathogenic (Feb 18, 2021)	criteria provided, single submitter
Select item 12708836.	NM_002906.4(RDX):c.1587+38T>G GRCh37: Chr11:110103924 GRCh38: Chr11:110233199	RDX		not provided, Autosomal recessive nonsyndromic hearing loss 24	Benign (Nov 7, 2021)	criteria provided, multiple submitters, no conflicts
Select item 9835257.	NM_002906.4(RDX):c.129G>A (p.Trp43Ter) GRCh37: Chr11:110135567 GRCh38: Chr11:110264842	RDX	W43*	Autosomal recessive nonsyndromic hearing loss 24	Pathogenic (Sep 10, 2019)	criteria provided, single submitter
Select item 9835248.	NM_002906.4(RDX):c.-64-1215_12+348del GRCh37: Chr11:110150058-110151696 GRCh38: Chr11:110279333-110280971	RDX		Autosomal recessive nonsyndromic hearing loss 24	Likely pathogenic (Sep 10, 2019)	criteria provided, single submitter
Select item 9824419.	NM_002906.4(RDX):c.1108C>T (p.Arg370Ter) GRCh37: Chr11:110108360 GRCh38: Chr11:110237635	RDX	R23, R234, R370*	Autosomal recessive nonsyndromic hearing loss 24	Pathogenic (Oct 26, 2020)	criteria provided, single submitter
Select item 88002910.	NM_002906.4(RDX):c.698+14T>C GRCh37: Chr11:110128478 GRCh38: Chr11:110257753	RDX		Autosomal recessive nonsyndromic hearing loss 24	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87996911.	NM_002906.4(RDX):c.*1201A>G GRCh37: Chr11:110101393 GRCh38: Chr11:110230668	RDX		Autosomal recessive nonsyndromic hearing loss 24	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87996812.	NM_002906.4(RDX):c.*1215G>A GRCh37: Chr11:110101379 GRCh38: Chr11:110230654	RDX		Autosomal recessive nonsyndromic hearing loss 24	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87996713.	NM_002906.4(RDX):c.*1264G>C GRCh37: Chr11:110101330 GRCh38: Chr11:110230605	RDX		Autosomal recessive nonsyndromic hearing loss 24	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87966314.	NM_002906.4(RDX):c.1251+14T>G GRCh37: Chr11:110108203 GRCh38: Chr11:110237478	RDX		Autosomal recessive nonsyndromic hearing loss 24	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87966215.	NM_002906.4(RDX):c.1495G>C (p.Glu499Gln) GRCh37: Chr11:110104054 GRCh38: Chr11:110233329	RDX	E499Q, E363Q, E152Q	Autosomal recessive nonsyndromic hearing loss 24	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87966116.	NM_002906.4(RDX):c.1547C>T (p.Thr516Ile) GRCh37: Chr11:110104002 GRCh38: Chr11:110233277	RDX	T169I, T380I, T516I	Autosomal recessive nonsyndromic hearing loss 24	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87961217.	NM_002906.4(RDX):c.*1358C>T GRCh37: Chr11:110101236 GRCh38: Chr11:110230511	RDX		Autosomal recessive nonsyndromic hearing loss 24	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87961118.	NM_002906.4(RDX):c.*1375G>A GRCh37: Chr11:110101219 GRCh38: Chr11:110230494	RDX		Autosomal recessive nonsyndromic hearing loss 24	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 87961019.	NM_002906.4(RDX):c.*1383G>A GRCh37: Chr11:110101211 GRCh38: Chr11:110230486	RDX		Autosomal recessive nonsyndromic hearing loss 24	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87960920.	NM_002906.4(RDX):c.*1536T>C GRCh37: Chr11:110101058 GRCh38: Chr11:110230333	RDX		Autosomal recessive nonsyndromic hearing loss 24	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87960821.	NM_002906.4(RDX):c.*1632A>G GRCh37: Chr11:110100962 GRCh38: Chr11:110230237	RDX		Autosomal recessive nonsyndromic hearing loss 24	Uncertain significance (Apr 20, 2018)	criteria provided, single submitter
Select item 87960722.	NM_002906.4(RDX):c.*1898A>G GRCh37: Chr11:110100696 GRCh38: Chr11:110229971	RDX		Autosomal recessive nonsyndromic hearing loss 24	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87887223.	NM_002906.3(RDX):c.-291G>A GRCh37: Chr11:110167418 GRCh38: Chr11:110296693	RDX		Autosomal recessive nonsyndromic hearing loss 24	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87887124.	NM_002906.3(RDX):c.-285A>G GRCh37: Chr11:110167412 GRCh38: Chr11:110296687	RDX		Autosomal recessive nonsyndromic hearing loss 24	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87887025.	NM_002906.3(RDX):c.-272A>T GRCh37: Chr11:110167399 GRCh38: Chr11:110296674	RDX		Autosomal recessive nonsyndromic hearing loss 24	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87827426.	NM_002906.3(RDX):c.-270G>C GRCh37: Chr11:110167397 GRCh38: Chr11:110296672	RDX		Autosomal recessive nonsyndromic hearing loss 24	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87827327.	NM_002906.3(RDX):c.-240C>G GRCh37: Chr11:110167367 GRCh38: Chr11:110296642	RDX		Autosomal recessive nonsyndromic hearing loss 24	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87827228.	NM_002906.4(RDX):c.-133C>T GRCh37: Chr11:110167260 GRCh38: Chr11:110296535	RDX		Autosomal recessive nonsyndromic hearing loss 24	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87821629.	NM_002906.4(RDX):c.1577A>G (p.Lys526Arg) GRCh37: Chr11:110103972 GRCh38: Chr11:110233247	RDX	K390R, K526R, K179R	Autosomal recessive nonsyndromic hearing loss 24	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87821530.	NM_002906.4(RDX):c.*302C>T GRCh37: Chr11:110102292 GRCh38: Chr11:110231567	RDX		Autosomal recessive nonsyndromic hearing loss 24	Uncertain significance (Apr 20, 2018)	criteria provided, single submitter
Select item 87821431.	NM_002906.4(RDX):c.*414A>T GRCh37: Chr11:110102180 GRCh38: Chr11:110231455	RDX		Autosomal recessive nonsyndromic hearing loss 24	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87821332.	NM_002906.4(RDX):c.*474A>G GRCh37: Chr11:110102120 GRCh38: Chr11:110231395	RDX		Autosomal recessive nonsyndromic hearing loss 24	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87814933.	NM_002906.4(RDX):c.*2070A>G GRCh37: Chr11:110100524 GRCh38: Chr11:110229799	RDX		Autosomal recessive nonsyndromic hearing loss 24	Uncertain significance (Mar 23, 2018)	criteria provided, single submitter
Select item 87814834.	NM_002906.4(RDX):c.*2085A>C GRCh37: Chr11:110100509 GRCh38: Chr11:110229784	RDX		Autosomal recessive nonsyndromic hearing loss 24	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87814735.	NM_002906.4(RDX):c.*2112A>G GRCh37: Chr11:110100482 GRCh38: Chr11:110229757	RDX		Autosomal recessive nonsyndromic hearing loss 24	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87814636.	NM_002906.4(RDX):c.*2253C>T GRCh37: Chr11:110100341 GRCh38: Chr11:110229616	RDX		Autosomal recessive nonsyndromic hearing loss 24	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87723337.	NM_002906.4(RDX):c.-91G>A GRCh37: Chr11:110167218 GRCh38: Chr11:110296493	RDX		Autosomal recessive nonsyndromic hearing loss 24	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 87723238.	NM_002906.4(RDX):c.6G>A (p.Pro2=) GRCh37: Chr11:110150412 GRCh38: Chr11:110279687	RDX		Autosomal recessive nonsyndromic hearing loss 24, not provided	Conflicting interpretations of pathogenicity (Mar 4, 2022)	criteria provided, conflicting interpretations
Select item 87723139.	NM_002906.4(RDX):c.301C>T (p.Leu101Phe) GRCh37: Chr11:110134851 GRCh38: Chr11:110264126	RDX	L69F, L101F	Autosomal recessive nonsyndromic hearing loss 24	Uncertain significance (Feb 2, 2018)	criteria provided, single submitter
Select item 87717840.	NM_002906.4(RDX):c.*740C>T GRCh37: Chr11:110101854 GRCh38: Chr11:110231129	RDX		Autosomal recessive nonsyndromic hearing loss 24	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87717741.	NM_002906.4(RDX):c.*762C>A GRCh37: Chr11:110101832 GRCh38: Chr11:110231107	RDX		Autosomal recessive nonsyndromic hearing loss 24	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87717642.	NM_002906.4(RDX):c.*855T>C GRCh37: Chr11:110101739 GRCh38: Chr11:110231014	RDX		Autosomal recessive nonsyndromic hearing loss 24	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87717543.	NM_002906.4(RDX):c.*1143G>A GRCh37: Chr11:110101451 GRCh38: Chr11:110230726	RDX		Autosomal recessive nonsyndromic hearing loss 24	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 63804744.	NM_002906.4(RDX):c.551+2T>C GRCh37: Chr11:110128829 GRCh38: Chr11:110258104	RDX		Autosomal recessive nonsyndromic hearing loss 24	Pathogenic	criteria provided, single submitter
Select item 63164945.	NM_002906.4(RDX):c.573C>A (p.Tyr191Ter) GRCh37: Chr11:110128617 GRCh38: Chr11:110257892	RDX	Y191, Y55	Autosomal recessive nonsyndromic hearing loss 24	Uncertain significance (Dec 25, 2018)	criteria provided, single submitter
Select item 63164846.	NM_002906.4(RDX):c.910C>T (p.Gln304Ter) GRCh37: Chr11:110124720 GRCh38: Chr11:110253995	RDX	Q304, Q168	Autosomal recessive nonsyndromic hearing loss 24, not provided	Conflicting interpretations of pathogenicity (Oct 27, 2021)	criteria provided, conflicting interpretations
Select item 50159247.	NM_002906.4(RDX):c.1345-7T>C GRCh37: Chr11:110104211 GRCh38: Chr11:110233486	RDX		not provided, Autosomal recessive nonsyndromic hearing loss 24	Conflicting interpretations of pathogenicity (Mar 17, 2021)	criteria provided, conflicting interpretations
Select item 30236648.	NM_002906.3(RDX):c.-309T>G GRCh37: Chr11:110167436 GRCh38: Chr11:110296711	RDX		Autosomal recessive nonsyndromic hearing loss 24	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30236549.	NM_002906.3(RDX):c.-305G>T GRCh37: Chr11:110167432 GRCh38: Chr11:110296707	RDX		Autosomal recessive nonsyndromic hearing loss 24	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30236450.	NM_002906.3(RDX):c.-297C>T GRCh37: Chr11:110167424 GRCh38: Chr11:110296699	RDX		Autosomal recessive nonsyndromic hearing loss 24	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30236351.	NM_002906.3(RDX):c.-290C>A GRCh37: Chr11:110167417 GRCh38: Chr11:110296692	RDX		Autosomal recessive nonsyndromic hearing loss 24	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30236252.	NM_002906.3(RDX):c.-221C>A GRCh37: Chr11:110167348 GRCh38: Chr11:110296623	RDX		Autosomal recessive nonsyndromic hearing loss 24	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 30236153.	NM_002906.4(RDX):c.-179C>T GRCh37: Chr11:110167306 GRCh38: Chr11:110296581	RDX		Autosomal recessive nonsyndromic hearing loss 24	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 30236054.	NM_002906.4(RDX):c.-169C>T GRCh37: Chr11:110167296 GRCh38: Chr11:110296571	RDX		Autosomal recessive nonsyndromic hearing loss 24	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 30235955.	NM_002906.4(RDX):c.-149C>T GRCh37: Chr11:110167276 GRCh38: Chr11:110296551	RDX		Autosomal recessive nonsyndromic hearing loss 24	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30235856.	NM_002906.4(RDX):c.-105C>T GRCh37: Chr11:110167232 GRCh38: Chr11:110296507	RDX		Autosomal recessive nonsyndromic hearing loss 24	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 30235757.	NM_002906.4(RDX):c.-76C>T GRCh37: Chr11:110167203 GRCh38: Chr11:110296478	RDX		Autosomal recessive nonsyndromic hearing loss 24	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30235658.	NM_002906.4(RDX):c.-65+12C>T GRCh37: Chr11:110167180 GRCh38: Chr11:110296455	RDX		Autosomal recessive nonsyndromic hearing loss 24	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30235459.	NM_002906.4(RDX):c.-64-6del GRCh37: Chr11:110150487 GRCh38: Chr11:110279762	RDX		Nonsyndromic Hearing Loss, Recessive, not provided, Autosomal recessive nonsyndromic hearing loss 24	Benign/Likely benign (Nov 7, 2021)	criteria provided, multiple submitters, no conflicts
Select item 30235160.	NM_002906.4(RDX):c.507A>G (p.Glu169=) GRCh37: Chr11:110128875 GRCh38: Chr11:110258150	RDX		Autosomal recessive nonsyndromic hearing loss 24	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 30235061.	NM_002906.4(RDX):c.602A>G (p.Tyr201Cys) GRCh37: Chr11:110128588 GRCh38: Chr11:110257863	RDX	Y201C, Y65C	Autosomal recessive nonsyndromic hearing loss 24, not provided	Uncertain significance (Aug 4, 2020)	criteria provided, multiple submitters, no conflicts
Select item 30234962.	NM_002906.4(RDX):c.836G>T (p.Arg279Leu) GRCh37: Chr11:110124794 GRCh38: Chr11:110254069	RDX	R279L, R143L	Autosomal recessive nonsyndromic hearing loss 24	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30234863.	NM_002906.4(RDX):c.1049G>A (p.Arg350His) GRCh37: Chr11:110118469 GRCh38: Chr11:110247744	RDX	R350H, R214H, R3H	Autosomal recessive nonsyndromic hearing loss 24, not provided	Uncertain significance (Jun 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 30234764.	NM_002906.4(RDX):c.1162C>A (p.Arg388=) GRCh37: Chr11:110108306 GRCh38: Chr11:110237581	RDX		Autosomal recessive nonsyndromic hearing loss 24	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30234665.	NM_002906.4(RDX):c.1188T>C (p.Ala396=) GRCh37: Chr11:110108280 GRCh38: Chr11:110237555	RDX		Autosomal recessive nonsyndromic hearing loss 24	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30234566.	NM_002906.4(RDX):c.1195G>A (p.Ala399Thr) GRCh37: Chr11:110108273 GRCh38: Chr11:110237548	RDX	A399T, A263T, A52T	Autosomal recessive nonsyndromic hearing loss 24	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30234467.	NM_002906.4(RDX):c.1411C>G (p.Pro471Ala) GRCh37: Chr11:110104138 GRCh38: Chr11:110233413	RDX	P471A, P335A, P124A	Autosomal recessive nonsyndromic hearing loss 24, not provided	Uncertain significance (Aug 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 30234368.	NM_002906.4(RDX):c.1504A>G (p.Asn502Asp) GRCh37: Chr11:110104045 GRCh38: Chr11:110233320	RDX	N502D, N366D, N155D	Autosomal recessive nonsyndromic hearing loss 24, Inborn genetic diseases	Uncertain significance (Apr 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 30234269.	NM_002906.4(RDX):c.1530C>T (p.Ser510=) GRCh37: Chr11:110104019 GRCh38: Chr11:110233294	RDX		Autosomal recessive nonsyndromic hearing loss 24, not provided	Conflicting interpretations of pathogenicity (Nov 10, 2021)	criteria provided, conflicting interpretations
Select item 30234170.	NM_002906.4(RDX):c.*79A>C GRCh37: Chr11:110102515 GRCh38: Chr11:110231790	RDX		Autosomal recessive nonsyndromic hearing loss 24	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 30234071.	NM_002906.4(RDX):c.*156A>G GRCh37: Chr11:110102438 GRCh38: Chr11:110231713	RDX		Autosomal recessive nonsyndromic hearing loss 24	Uncertain significance (Sep 22, 2021)	criteria provided, multiple submitters, no conflicts
Select item 30233972.	NM_002906.4(RDX):c.*429G>A GRCh37: Chr11:110102165 GRCh38: Chr11:110231440	RDX		Autosomal recessive nonsyndromic hearing loss 24	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30233873.	NM_002906.4(RDX):c.*463A>G GRCh37: Chr11:110102131 GRCh38: Chr11:110231406	RDX		Autosomal recessive nonsyndromic hearing loss 24	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30233574.	NM_002906.4(RDX):c.*800C>T GRCh37: Chr11:110101794 GRCh38: Chr11:110231069	RDX		Autosomal recessive nonsyndromic hearing loss 24	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30233475.	NM_002906.4(RDX):c.*885G>A GRCh37: Chr11:110101709 GRCh38: Chr11:110230984	RDX		Autosomal recessive nonsyndromic hearing loss 24	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 30233276.	NM_002906.4(RDX):c.*1058G>A GRCh37: Chr11:110101536 GRCh38: Chr11:110230811	RDX		Autosomal recessive nonsyndromic hearing loss 24	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30233177.	NM_002906.4(RDX):c.*1083G>A GRCh37: Chr11:110101511 GRCh38: Chr11:110230786	RDX		Autosomal recessive nonsyndromic hearing loss 24	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 30233078.	NM_002906.4(RDX):c.*1173A>G GRCh37: Chr11:110101421 GRCh38: Chr11:110230696	RDX		Autosomal recessive nonsyndromic hearing loss 24	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 30232779.	NM_002906.4(RDX):c.*1251A>C GRCh37: Chr11:110101343 GRCh38: Chr11:110230618	RDX		Autosomal recessive nonsyndromic hearing loss 24	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 30232480.	NM_002906.4(RDX):c.*1284G>A GRCh37: Chr11:110101310 GRCh38: Chr11:110230585	RDX		Autosomal recessive nonsyndromic hearing loss 24	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30231581.	NM_002906.4(RDX):c.*1290A>G GRCh37: Chr11:110101304 GRCh38: Chr11:110230579	RDX		Autosomal recessive nonsyndromic hearing loss 24	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 30230882.	NM_002906.4(RDX):c.*1313G>C GRCh37: Chr11:110101281 GRCh38: Chr11:110230556	RDX		Autosomal recessive nonsyndromic hearing loss 24	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30230683.	NM_002906.4(RDX):c.*1368A>C GRCh37: Chr11:110101226 GRCh38: Chr11:110230501	RDX		Autosomal recessive nonsyndromic hearing loss 24	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 30230584.	NM_002906.4(RDX):c.*1579A>G GRCh37: Chr11:110101015 GRCh38: Chr11:110230290	RDX		Autosomal recessive nonsyndromic hearing loss 24	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30230485.	NM_002906.4(RDX):c.*1955A>G GRCh37: Chr11:110100639 GRCh38: Chr11:110229914	RDX		Autosomal recessive nonsyndromic hearing loss 24	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30230386.	NM_002906.4(RDX):c.*1961G>A GRCh37: Chr11:110100633 GRCh38: Chr11:110229908	RDX		Autosomal recessive nonsyndromic hearing loss 24	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 30230287.	NM_002906.4(RDX):c.*2006A>G GRCh37: Chr11:110100588 GRCh38: Chr11:110229863	RDX		Autosomal recessive nonsyndromic hearing loss 24	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30230188.	NM_002906.4(RDX):c.*2057T>C GRCh37: Chr11:110100537 GRCh38: Chr11:110229812	RDX		Autosomal recessive nonsyndromic hearing loss 24	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30230089.	NM_002906.4(RDX):c.*2423C>T GRCh37: Chr11:110100171 GRCh38: Chr11:110229446	RDX		Autosomal recessive nonsyndromic hearing loss 24	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 22790090.	NM_002906.4(RDX):c.471A>G (p.Val157=) GRCh37: Chr11:110128911 GRCh38: Chr11:110258186	RDX		not specified, not provided, Autosomal recessive nonsyndromic hearing loss 24	Likely benign (Jul 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 16505491.	NM_002906.4(RDX):c.354G>T (p.Pro118=) GRCh37: Chr11:110134798 GRCh38: Chr11:110264073	RDX		not specified, not provided, Autosomal recessive nonsyndromic hearing loss 24	Conflicting interpretations of pathogenicity (Oct 9, 2022)	criteria provided, conflicting interpretations
Select item 4463892.	NM_002906.4(RDX):c.1487C>T (p.Ala496Val) GRCh37: Chr11:110104062 GRCh38: Chr11:110233337	RDX	A496V, A360V, A149V	not provided, not specified, Autosomal recessive nonsyndromic hearing loss 24	Conflicting interpretations of pathogenicity (Oct 5, 2022)	criteria provided, conflicting interpretations
Select item 4463693.	NM_002906.4(RDX):c.1059A>G (p.Gln353=) GRCh37: Chr11:110118459 GRCh38: Chr11:110247734	RDX		not specified, not provided, Autosomal recessive nonsyndromic hearing loss 24	Conflicting interpretations of pathogenicity (Oct 25, 2022)	criteria provided, conflicting interpretations
Select item 1318794.	NM_002906.4(RDX):c.698+1G>A GRCh37: Chr11:110128491 GRCh38: Chr11:110257766	RDX		Autosomal recessive nonsyndromic hearing loss 24	Pathogenic (Mar 1, 2009)	no assertion criteria provided
Select item 1318695.	NM_002906.4(RDX):c.463C>T (p.Gln155Ter) GRCh37: Chr11:110134689 GRCh38: Chr11:110263964	RDX	Q155, Q123	Autosomal recessive nonsyndromic hearing loss 24	Pathogenic (May 1, 2007)	no assertion criteria provided
Select item 1318596.	NM_002906.4(RDX):c.1405dup (p.Ala469fs) GRCh37: Chr11:110104143-110104144 GRCh38: Chr11:110233418-110233419	RDX	A333fs, A122fs, A469fs	Autosomal recessive nonsyndromic hearing loss 24	Pathogenic (May 1, 2007)	no assertion criteria provided
Select item 1318497.	NM_002906.4(RDX):c.1732G>A (p.Asp578Asn) GRCh37: Chr11:110102614 GRCh38: Chr11:110231889	RDX	D578N, D231N, D174N, D442N	Autosomal recessive nonsyndromic hearing loss 24	Pathogenic (May 1, 2007)	no assertion criteria provided

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Items: 97