ClinVar for MedGen (Select 324897) - ClinVar

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Items: 78

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 11745381.	NM_001379180.1(ESRRB):c.562G>A (p.Gly188Arg) GRCh37: Chr14:76928989 GRCh38: Chr14:76462646	ESRRB	G167R, G188R	Autosomal recessive nonsyndromic hearing loss 35	Pathogenic	no assertion criteria provided
Select item 10282472.	NM_001379180.1(ESRRB):c.*1451C>G GRCh37: Chr14:76966252 GRCh38: Chr14:76499909	ESRRB	S448*	Autosomal recessive nonsyndromic hearing loss 35	Likely pathogenic (Jun 3, 2020)	criteria provided, single submitter
Select item 8877453.	NM_001379180.1(ESRRB):c.*3347A>T GRCh37: Chr14:76968148 GRCh38: Chr14:76501805	ESRRB		Autosomal recessive nonsyndromic hearing loss 35	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 8877444.	NM_001379180.1(ESRRB):c.*3338C>T GRCh37: Chr14:76968139 GRCh38: Chr14:76501796	ESRRB		Autosomal recessive nonsyndromic hearing loss 35	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 8877435.	NM_001379180.1(ESRRB):c.*3220T>C GRCh37: Chr14:76968021 GRCh38: Chr14:76501678	ESRRB		Autosomal recessive nonsyndromic hearing loss 35	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 8876916.	NM_001379180.1(ESRRB):c.*1398C>T GRCh37: Chr14:76966199 GRCh38: Chr14:76499856	ESRRB		Autosomal recessive nonsyndromic hearing loss 35	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 8876907.	NM_001379180.1(ESRRB):c.1236G>A (p.Lys412=) GRCh37: Chr14:76964672 GRCh38: Chr14:76498329	ESRRB		Autosomal recessive nonsyndromic hearing loss 35	Uncertain significance (Mar 2, 2018)	criteria provided, single submitter
Select item 8876898.	NM_001379180.1(ESRRB):c.1119C>T (p.Ser373=) GRCh37: Chr14:76958058 GRCh38: Chr14:76491715	ESRRB		Autosomal recessive nonsyndromic hearing loss 35	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 8865019.	NM_001379180.1(ESRRB):c.*2859T>A GRCh37: Chr14:76967660 GRCh38: Chr14:76501317	ESRRB		Autosomal recessive nonsyndromic hearing loss 35	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88650010.	NM_001379180.1(ESRRB):c.*2765A>G GRCh37: Chr14:76967566 GRCh38: Chr14:76501223	ESRRB		Autosomal recessive nonsyndromic hearing loss 35	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88649911.	NM_001379180.1(ESRRB):c.*2751C>T GRCh37: Chr14:76967552 GRCh38: Chr14:76501209	ESRRB		Autosomal recessive nonsyndromic hearing loss 35	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88649812.	NM_001379180.1(ESRRB):c.*2721A>G GRCh37: Chr14:76967522 GRCh38: Chr14:76501179	ESRRB		Autosomal recessive nonsyndromic hearing loss 35	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88649713.	NM_001379180.1(ESRRB):c.*2702A>C GRCh37: Chr14:76967503 GRCh38: Chr14:76501160	ESRRB		Autosomal recessive nonsyndromic hearing loss 35	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88547814.	NM_001379180.1(ESRRB):c.*2373G>A GRCh37: Chr14:76967174 GRCh38: Chr14:76500831	ESRRB		Autosomal recessive nonsyndromic hearing loss 35	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88542115.	NM_001379180.1(ESRRB):c.292G>A (p.Glu98Lys) GRCh37: Chr14:76905925 GRCh38: Chr14:76439582	ESRRB	E77K, E98K	Autosomal recessive nonsyndromic hearing loss 35	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88542016.	NM_001379180.1(ESRRB):c.260G>A (p.Gly87Glu) GRCh37: Chr14:76905893 GRCh38: Chr14:76439550	ESRRB	G66E, G87E	Autosomal recessive nonsyndromic hearing loss 35, Inborn genetic diseases	Uncertain significance (Apr 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 88541917.	NM_001379180.1(ESRRB):c.226G>A (p.Gly76Ser) GRCh37: Chr14:76905859 GRCh38: Chr14:76439516	ESRRB	G55S, G76S	Autosomal recessive nonsyndromic hearing loss 35	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88454318.	NM_001379180.1(ESRRB):c.*1556T>C GRCh37: Chr14:76966357 GRCh38: Chr14:76500014	ESRRB	L483P	not provided, Autosomal recessive nonsyndromic hearing loss 35	Conflicting interpretations of pathogenicity (May 28, 2021)	criteria provided, conflicting interpretations
Select item 88454219.	NM_001379180.1(ESRRB):c.*1519G>A GRCh37: Chr14:76966320 GRCh38: Chr14:76499977	ESRRB	G471R	Autosomal recessive nonsyndromic hearing loss 35	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88448020.	NM_001379180.1(ESRRB):c.50+28005T>C GRCh37: Chr14:76870799 GRCh38: Chr14:76404456	ESRRB		Autosomal recessive nonsyndromic hearing loss 35	Uncertain significance (Mar 2, 2018)	criteria provided, single submitter
Select item 88447921.	NM_001379180.1(ESRRB):c.50+27968G>A GRCh37: Chr14:76870762 GRCh38: Chr14:76404419	ESRRB		Autosomal recessive nonsyndromic hearing loss 35	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 87257322.	NM_001379180.1(ESRRB):c.*1502A>T GRCh37: Chr14:76966303 GRCh38: Chr14:76499960	ESRRB	D465V	Autosomal recessive nonsyndromic hearing loss 35, not provided	Uncertain significance (Sep 1, 2019)	criteria provided, multiple submitters, no conflicts
Select item 86946323.	NM_001379180.1(ESRRB):c.583C>T (p.Arg195Cys) GRCh37: Chr14:76948364 GRCh38: Chr14:76482021	ESRRB	R174C, R195C	Autosomal recessive nonsyndromic hearing loss 35	Likely pathogenic (Oct 19, 2020)	criteria provided, single submitter
Select item 63805024.	NM_001379180.1(ESRRB):c.796G>C (p.Asp266His) GRCh37: Chr14:76949048 GRCh38: Chr14:76482705	ESRRB	D245H, D266H	Autosomal recessive nonsyndromic hearing loss 35	Uncertain significance	criteria provided, single submitter
Select item 40225525.	NM_001379180.1(ESRRB):c.850G>A (p.Gly284Ser) GRCh37: Chr14:76949102 GRCh38: Chr14:76482759	ESRRB	G263S, G284S	Autosomal recessive nonsyndromic hearing loss 35	Pathogenic (Jun 4, 2016)	no assertion criteria provided
Select item 40225426.	NM_001379180.1(ESRRB):c.608G>A (p.Arg203His) GRCh37: Chr14:76948389 GRCh38: Chr14:76482046	ESRRB	R182H, R203H	Autosomal recessive nonsyndromic hearing loss 35	Pathogenic (Jun 4, 2016)	no assertion criteria provided
Select item 31450527.	NM_001379180.1(ESRRB):c.*3372G>C GRCh37: Chr14:76968173 GRCh38: Chr14:76501830	ESRRB		Autosomal recessive nonsyndromic hearing loss 35	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31450428.	NM_001379180.1(ESRRB):c.*3331C>T GRCh37: Chr14:76968132 GRCh38: Chr14:76501789	ESRRB		Autosomal recessive nonsyndromic hearing loss 35	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31450229.	NM_001379180.1(ESRRB):c.*3018G>C GRCh37: Chr14:76967819 GRCh38: Chr14:76501476	ESRRB		Autosomal recessive nonsyndromic hearing loss 35	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 31450030.	NM_001379180.1(ESRRB):c.*2953C>T GRCh37: Chr14:76967754 GRCh38: Chr14:76501411	ESRRB		Autosomal recessive nonsyndromic hearing loss 35	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31449931.	NM_001379180.1(ESRRB):c.*2945C>A GRCh37: Chr14:76967746 GRCh38: Chr14:76501403	ESRRB		Autosomal recessive nonsyndromic hearing loss 35	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31449832.	NM_001379180.1(ESRRB):c.*2926G>A GRCh37: Chr14:76967727 GRCh38: Chr14:76501384	ESRRB		Autosomal recessive nonsyndromic hearing loss 35	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31449733.	NM_001379180.1(ESRRB):c.*2912G>A GRCh37: Chr14:76967713 GRCh38: Chr14:76501370	ESRRB		Autosomal recessive nonsyndromic hearing loss 35	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 31449634.	NM_001379180.1(ESRRB):c.*2906T>C GRCh37: Chr14:76967707 GRCh38: Chr14:76501364	ESRRB		Autosomal recessive nonsyndromic hearing loss 35	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 31449535.	NM_001379180.1(ESRRB):c.*2867C>T GRCh37: Chr14:76967668 GRCh38: Chr14:76501325	ESRRB		Autosomal recessive nonsyndromic hearing loss 35	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31449436.	NM_001379180.1(ESRRB):c.*2639C>G GRCh37: Chr14:76967440 GRCh38: Chr14:76501097	ESRRB		Autosomal recessive nonsyndromic hearing loss 35	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31449337.	NM_001379180.1(ESRRB):c.*2574C>A GRCh37: Chr14:76967375 GRCh38: Chr14:76501032	ESRRB		not provided, Autosomal recessive nonsyndromic hearing loss 35	Benign (Dec 10, 2018)	criteria provided, multiple submitters, no conflicts
Select item 31449238.	NM_001379180.1(ESRRB):c.*2504T>C GRCh37: Chr14:76967305 GRCh38: Chr14:76500962	ESRRB		not provided, Autosomal recessive nonsyndromic hearing loss 35	Benign (Nov 29, 2018)	criteria provided, multiple submitters, no conflicts
Select item 31449139.	NM_001379180.1(ESRRB):c.*2382G>A GRCh37: Chr14:76967183 GRCh38: Chr14:76500840	ESRRB		Autosomal recessive nonsyndromic hearing loss 35	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31449040.	NM_001379180.1(ESRRB):c.*2334G>A GRCh37: Chr14:76967135 GRCh38: Chr14:76500792	ESRRB		Autosomal recessive nonsyndromic hearing loss 35	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31448941.	NM_001379180.1(ESRRB):c.*2287G>A GRCh37: Chr14:76967088 GRCh38: Chr14:76500745	ESRRB		not provided, Autosomal recessive nonsyndromic hearing loss 35	Conflicting interpretations of pathogenicity (Jan 25, 2019)	criteria provided, conflicting interpretations
Select item 31448842.	NM_001379180.1(ESRRB):c.*1527C>T GRCh37: Chr14:76966328 GRCh38: Chr14:76499985	ESRRB		not provided, Autosomal recessive nonsyndromic hearing loss 35	Conflicting interpretations of pathogenicity (Feb 5, 2022)	criteria provided, conflicting interpretations
Select item 31448743.	NM_001379180.1(ESRRB):c.659T>C (p.Leu220Ser) GRCh37: Chr14:76948440 GRCh38: Chr14:76482097	ESRRB	L199S, L220S	not specified, Autosomal recessive nonsyndromic hearing loss 35	Uncertain significance (Jan 12, 2018)	criteria provided, multiple submitters, no conflicts
Select item 31448644.	NM_001379180.1(ESRRB):c.578-4A>G GRCh37: Chr14:76948355 GRCh38: Chr14:76482012	ESRRB		Autosomal recessive nonsyndromic hearing loss 35	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 31448545.	NM_001379180.1(ESRRB):c.577+15C>T GRCh37: Chr14:76929019 GRCh38: Chr14:76462676	ESRRB		Autosomal recessive nonsyndromic hearing loss 35	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31448446.	NM_001379180.1(ESRRB):c.480C>T (p.Cys160=) GRCh37: Chr14:76928907 GRCh38: Chr14:76462564	ESRRB		Autosomal recessive nonsyndromic hearing loss 35	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 31448347.	NM_001379180.1(ESRRB):c.302C>T (p.Ala101Val) GRCh37: Chr14:76905935 GRCh38: Chr14:76439592	ESRRB	A80V, A101V	not specified, Autosomal recessive nonsyndromic hearing loss 35	Uncertain significance (Jan 12, 2018)	criteria provided, multiple submitters, no conflicts
Select item 31448248.	NM_001379180.1(ESRRB):c.190G>A (p.Gly64Ser) GRCh37: Chr14:76905823 GRCh38: Chr14:76439480	ESRRB	G43S, G64S	not provided, Autosomal recessive nonsyndromic hearing loss 35	Uncertain significance (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 31448149.	NM_001379180.1(ESRRB):c.177G>A (p.Ser59=) GRCh37: Chr14:76905810 GRCh38: Chr14:76439467	ESRRB		not specified, not provided, Autosomal recessive nonsyndromic hearing loss 35	Conflicting interpretations of pathogenicity (Jul 6, 2022)	criteria provided, conflicting interpretations
Select item 31448050.	NM_001379180.1(ESRRB):c.50+27963T>C GRCh37: Chr14:76870757 GRCh38: Chr14:76404414	ESRRB		Autosomal recessive nonsyndromic hearing loss 35	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 31447951.	NM_004452.4(ESRRB):c.-191T>C GRCh37: Chr14:76837870 GRCh38: Chr14:76371527	ESRRB		Autosomal recessive nonsyndromic hearing loss 35	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31447852.	NM_004452.4(ESRRB):c.-211A>G GRCh37: Chr14:76837850 GRCh38: Chr14:76371507	ESRRB		Autosomal recessive nonsyndromic hearing loss 35	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31447753.	NM_004452.4(ESRRB):c.-236C>T GRCh37: Chr14:76837825 GRCh38: Chr14:76371482	ESRRB		Autosomal recessive nonsyndromic hearing loss 35	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31447654.	NM_004452.4(ESRRB):c.-292C>A GRCh37: Chr14:76837769 GRCh38: Chr14:76371426	ESRRB		Autosomal recessive nonsyndromic hearing loss 35	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31447555.	NM_004452.4(ESRRB):c.-300A>G GRCh37: Chr14:76837761 GRCh38: Chr14:76371418	ESRRB		Autosomal recessive nonsyndromic hearing loss 35	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 31447456.	NM_004452.4(ESRRB):c.-324G>A GRCh37: Chr14:76837737 GRCh38: Chr14:76371394	ESRRB		Autosomal recessive nonsyndromic hearing loss 35	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 31447357.	NM_004452.4(ESRRB):c.-369G>A GRCh37: Chr14:76837692 GRCh38: Chr14:76371349	ESRRB		Autosomal recessive nonsyndromic hearing loss 35	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 22867558.	NM_001379180.1(ESRRB):c.952G>A (p.Asp318Asn) GRCh37: Chr14:76957891 GRCh38: Chr14:76491548	ESRRB	D297N, D318N	not provided, Autosomal recessive nonsyndromic hearing loss 35, not specified	Conflicting interpretations of pathogenicity (Jun 4, 2022)	criteria provided, conflicting interpretations
Select item 22534959.	NM_001379180.1(ESRRB):c.1207C>T (p.Arg403Cys) GRCh37: Chr14:76964643 GRCh38: Chr14:76498300	ESRRB	R382C, R403C	not provided, Autosomal recessive nonsyndromic hearing loss 35	Conflicting interpretations of pathogenicity (Oct 19, 2022)	criteria provided, conflicting interpretations
Select item 19367360.	NM_001379180.1(ESRRB):c.*1604G>A GRCh37: Chr14:76966405 GRCh38: Chr14:76500062	ESRRB	G499D	not provided, Autosomal recessive nonsyndromic hearing loss 35	Uncertain significance (Jun 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 17961561.	NM_001379180.1(ESRRB):c.689-10G>A GRCh37: Chr14:76948931 GRCh38: Chr14:76482588	ESRRB		not specified, Autosomal recessive nonsyndromic hearing loss 35	Uncertain significance (Jan 13, 2018)	criteria provided, multiple submitters, no conflicts
Select item 17834362.	NM_001379180.1(ESRRB):c.1176C>T (p.His392=) GRCh37: Chr14:76964612 GRCh38: Chr14:76498269	ESRRB		not specified, not provided, Autosomal recessive nonsyndromic hearing loss 35	Conflicting interpretations of pathogenicity (Apr 4, 2022)	criteria provided, conflicting interpretations
Select item 17834263.	NM_001379180.1(ESRRB):c.206C>T (p.Ala69Val) GRCh37: Chr14:76905839 GRCh38: Chr14:76439496	ESRRB	A48V, A69V	not specified, not provided, Autosomal recessive nonsyndromic hearing loss 35	Conflicting interpretations of pathogenicity (Sep 27, 2022)	criteria provided, conflicting interpretations
Select item 16342564.	NM_001379180.1(ESRRB):c.*1546C>T GRCh37: Chr14:76966347 GRCh38: Chr14:76500004	ESRRB	P480S	not specified, not provided, Autosomal recessive nonsyndromic hearing loss 35	Conflicting interpretations of pathogenicity (Feb 1, 2023)	criteria provided, conflicting interpretations
Select item 16342465.	NM_001379180.1(ESRRB):c.*1517C>T GRCh37: Chr14:76966318 GRCh38: Chr14:76499975	ESRRB	P470L	not specified, not provided, Autosomal recessive nonsyndromic hearing loss 35	Conflicting interpretations of pathogenicity (Oct 19, 2022)	criteria provided, conflicting interpretations
Select item 16342166.	NM_001379180.1(ESRRB):c.1120+8C>T GRCh37: Chr14:76958067 GRCh38: Chr14:76491724	ESRRB		not specified, not provided, Autosomal recessive nonsyndromic hearing loss 35	Conflicting interpretations of pathogenicity (Oct 14, 2022)	criteria provided, conflicting interpretations
Select item 16342067.	NM_001379180.1(ESRRB):c.765G>A (p.Glu255=) GRCh37: Chr14:76949017 GRCh38: Chr14:76482674	ESRRB		not provided, not specified, Autosomal recessive nonsyndromic hearing loss 35	Conflicting interpretations of pathogenicity (Oct 17, 2022)	criteria provided, conflicting interpretations
Select item 16341668.	NM_001379180.1(ESRRB):c.79A>G (p.Arg27Gly) GRCh37: Chr14:76905712 GRCh38: Chr14:76439369	ESRRB	R6G, R27G	not specified, not provided, Autosomal recessive nonsyndromic hearing loss 35	Benign (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4500269.	NM_001379180.1(ESRRB):c.948T>C (p.Tyr316=) GRCh37: Chr14:76957887 GRCh38: Chr14:76491544	ESRRB		not specified, not provided, Autosomal recessive nonsyndromic hearing loss 35	Benign (Oct 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4500170.	NM_001379180.1(ESRRB):c.144C>A (p.Ile48=) GRCh37: Chr14:76905777 GRCh38: Chr14:76439434	ESRRB		not specified, not provided, Autosomal recessive nonsyndromic hearing loss 35	Benign (Oct 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4499971.	NM_001379180.1(ESRRB):c.*1535G>A GRCh37: Chr14:76966336 GRCh38: Chr14:76499993	ESRRB	R476H	not specified, not provided, Autosomal recessive nonsyndromic hearing loss 35	Conflicting interpretations of pathogenicity (Jul 19, 2022)	criteria provided, conflicting interpretations
Select item 4499872.	NM_001379180.1(ESRRB):c.204G>C (p.Leu68=) GRCh37: Chr14:76905837 GRCh38: Chr14:76439494	ESRRB		not specified, not provided, Autosomal recessive nonsyndromic hearing loss 35	Benign/Likely benign (Oct 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4499773.	NM_001379180.1(ESRRB):c.*1474T>C GRCh37: Chr14:76966275 GRCh38: Chr14:76499932	ESRRB	F456L	not specified, not provided, Autosomal recessive nonsyndromic hearing loss 35	Conflicting interpretations of pathogenicity (Oct 14, 2022)	criteria provided, conflicting interpretations
Select item 4499674.	NM_001379180.1(ESRRB):c.1300G>A (p.Val434Ile) GRCh37: Chr14:76964736 GRCh38: Chr14:76498393	ESRRB	V413I, V434I	not specified, not provided, Autosomal recessive nonsyndromic hearing loss 35	Benign/Likely benign (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4499575.	NM_001379180.1(ESRRB):c.1219C>T (p.Pro407Ser) GRCh37: Chr14:76964655 GRCh38: Chr14:76498312	ESRRB	P386S, P407S	not specified, not provided, Autosomal recessive nonsyndromic hearing loss 35	Benign/Likely benign (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 750076.	NM_001379180.1(ESRRB):c.1087G>T (p.Val363Leu) GRCh37: Chr14:76958026 GRCh38: Chr14:76491683	ESRRB	V342L, V363L	Autosomal recessive nonsyndromic hearing loss 35	Pathogenic (Jan 1, 2008)	no assertion criteria provided
Select item 749977.	NM_001379180.1(ESRRB):c.392C>T (p.Ala131Val) GRCh37: Chr14:76906025 GRCh38: Chr14:76439682	ESRRB	A110V, A131V	Autosomal recessive nonsyndromic hearing loss 35	Pathogenic (Jan 1, 2008)	no assertion criteria provided
Select item 749878.	NM_001379180.1(ESRRB):c.1081_1087dup (p.Val363fs) GRCh37: Chr14:76958018-76958019 GRCh38: Chr14:76491675-76491676	ESRRB	V342fs, V363fs	Autosomal recessive nonsyndromic hearing loss 35	Pathogenic (Jan 1, 2008)	no assertion criteria provided

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Items: 78