ClinVar for MedGen (Select 481290) - ClinVar

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Items: 67

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 16762531.	NM_001146079.2(CLDN14):c.664del (p.Ala222fs) GRCh37: Chr21:37833330 GRCh38: Chr21:36461032	CLDN14, CLDN14-AS1	A222fs	Autosomal recessive nonsyndromic hearing loss 29	Uncertain significance (Jun 4, 2021)	criteria provided, single submitter
Select item 13018062.	NM_001146079.2(CLDN14):c.523C>T (p.Leu175Phe) GRCh37: Chr21:37833471 GRCh38: Chr21:36461173	CLDN14, CLDN14-AS1	L175F	not provided	Uncertain significance (Dec 17, 2022)	criteria provided, single submitter
Select item 10650763.	NM_001146079.2(CLDN14):c.364G>A (p.Gly122Ser) GRCh37: Chr21:37833630 GRCh38: Chr21:36461332	CLDN14, CLDN14-AS1	G122S	not provided, Hearing impairment, Autosomal recessive nonsyndromic hearing loss 29	Uncertain significance (Aug 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9943984.	NM_001146079.2(CLDN14):c.430G>A (p.Val144Met) GRCh37: Chr21:37833564 GRCh38: Chr21:36461266	CLDN14, CLDN14-AS1	V144M	Autosomal recessive nonsyndromic hearing loss 29	Uncertain significance (Sep 25, 2019)	criteria provided, single submitter
Select item 8989975.	NM_001146079.2(CLDN14):c.-5G>A GRCh37: Chr21:37833998 GRCh38: Chr21:36461700	CLDN14, CLDN14-AS1		not provided, Autosomal recessive nonsyndromic hearing loss 29	Conflicting interpretations of pathogenicity (Feb 6, 2020)	criteria provided, conflicting interpretations
Select item 8989966.	NM_001146079.2(CLDN14):c.129C>T (p.Ala43=) GRCh37: Chr21:37833865 GRCh38: Chr21:36461567	CLDN14, CLDN14-AS1		not provided, Autosomal recessive nonsyndromic hearing loss 29	Conflicting interpretations of pathogenicity (Nov 16, 2021)	criteria provided, conflicting interpretations
Select item 8989957.	NM_001146079.2(CLDN14):c.262T>C (p.Cys88Arg) GRCh37: Chr21:37833732 GRCh38: Chr21:36461434	CLDN14, CLDN14-AS1	C88R	Autosomal recessive nonsyndromic hearing loss 29	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 8979278.	NM_001146079.2(CLDN14):c.-531G>A GRCh37: Chr21:37852242 GRCh38: Chr21:36479944	CLDN14-AS1, CLDN14		Autosomal recessive nonsyndromic hearing loss 29	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 8979269.	NM_001146079.2(CLDN14):c.-445G>A GRCh37: Chr21:37852156 GRCh38: Chr21:36479858	CLDN14, CLDN14-AS1		Autosomal recessive nonsyndromic hearing loss 29	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89792510.	NM_001146079.2(CLDN14):c.-436G>A GRCh37: Chr21:37852147 GRCh38: Chr21:36479849	CLDN14, CLDN14-AS1		Autosomal recessive nonsyndromic hearing loss 29	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89792411.	NM_001146079.2(CLDN14):c.-426C>T GRCh37: Chr21:37852137 GRCh38: Chr21:36479839	CLDN14, CLDN14-AS1		Autosomal recessive nonsyndromic hearing loss 29	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 89784512.	NM_001146079.2(CLDN14):c.513G>C (p.Ser171=) GRCh37: Chr21:37833481 GRCh38: Chr21:36461183	CLDN14, CLDN14-AS1		Autosomal recessive nonsyndromic hearing loss 29	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 89623813.	NM_001146079.2(CLDN14):c.578C>T (p.Pro193Leu) GRCh37: Chr21:37833416 GRCh38: Chr21:36461118	CLDN14, CLDN14-AS1	P193L	Autosomal recessive nonsyndromic hearing loss 29	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89623714.	NM_001146079.2(CLDN14):c.681G>A (p.Ser227=) GRCh37: Chr21:37833313 GRCh38: Chr21:36461015	CLDN14, CLDN14-AS1		not provided, Autosomal recessive nonsyndromic hearing loss 29	Conflicting interpretations of pathogenicity (Feb 1, 2023)	criteria provided, conflicting interpretations
Select item 89596215.	NM_001146079.2(CLDN14):c.*48G>A GRCh37: Chr21:37833226 GRCh38: Chr21:36460928	CLDN14, CLDN14-AS1		not provided, Autosomal recessive nonsyndromic hearing loss 29	Conflicting interpretations of pathogenicity (Jun 29, 2020)	criteria provided, conflicting interpretations
Select item 89596116.	NM_001146079.2(CLDN14):c.*66G>A GRCh37: Chr21:37833208 GRCh38: Chr21:36460910	CLDN14, CLDN14-AS1		Autosomal recessive nonsyndromic hearing loss 29	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89596017.	NM_001146079.2(CLDN14):c.*222T>C GRCh37: Chr21:37833052 GRCh38: Chr21:36460754	CLDN14, CLDN14-AS1		Autosomal recessive nonsyndromic hearing loss 29	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89595918.	NR_183532.1(CLDN14-AS1):n.799A>G GRCh37: Chr21:37832918 GRCh38: Chr21:36460620	CLDN14, CLDN14-AS1		Autosomal recessive nonsyndromic hearing loss 29	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89486119.	NM_001146079.2(CLDN14):c.-130G>A GRCh37: Chr21:37851841 GRCh38: Chr21:36479543	CLDN14, CLDN14-AS1		Autosomal recessive nonsyndromic hearing loss 29	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89486020.	NM_001146079.2(CLDN14):c.-82+2044A>C GRCh37: Chr21:37849749 GRCh38: Chr21:36477451	CLDN14, CLDN14-AS1		Autosomal recessive nonsyndromic hearing loss 29	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89485921.	NM_001146079.2(CLDN14):c.-76C>T GRCh37: Chr21:37834069 GRCh38: Chr21:36461771	CLDN14, CLDN14-AS1		Autosomal recessive nonsyndromic hearing loss 29	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 59916822.	NM_001146079.2(CLDN14):c.191G>A (p.Cys64Tyr) GRCh37: Chr21:37833803 GRCh38: Chr21:36461505	CLDN14, CLDN14-AS1	C64Y	Autosomal recessive nonsyndromic hearing loss 29	Likely pathogenic (Sep 7, 2018)	no assertion criteria provided
Select item 37567323.	NM_152524.5:c.1453_1454delGA,NM_012130.3:c.254T>A GRCh37: Chr21:37833740 Chr2:201436519-201436520 GRCh38: Chr21:36461442 Chr2:200571796-200571797	CLDN14, CLDN14-AS1, SGO2	V85D, E485fs	Perrault syndrome	Pathogenic (Aug 30, 2016)	no assertion criteria provided
Select item 33990824.	NM_001146079.2(CLDN14):c.-645G>T GRCh37: Chr21:37852356 GRCh38: Chr21:36480058	CLDN14, CLDN14-AS1		Autosomal recessive nonsyndromic hearing loss 29	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33990725.	NM_001146079.2(CLDN14):c.-634G>A GRCh37: Chr21:37852345 GRCh38: Chr21:36480047	CLDN14, CLDN14-AS1		Autosomal recessive nonsyndromic hearing loss 29	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33990626.	NM_001146079.2(CLDN14):c.-492C>T GRCh37: Chr21:37852203 GRCh38: Chr21:36479905	CLDN14, CLDN14-AS1		Autosomal recessive nonsyndromic hearing loss 29	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33990527.	NM_001146079.2(CLDN14):c.-390G>A GRCh37: Chr21:37852101 GRCh38: Chr21:36479803	CLDN14, CLDN14-AS1		Autosomal recessive nonsyndromic hearing loss 29	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 33990428.	NM_001146079.2(CLDN14):c.-337C>G GRCh37: Chr21:37852048 GRCh38: Chr21:36479750	CLDN14, CLDN14-AS1		Autosomal recessive nonsyndromic hearing loss 29	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 33990329.	NM_001146079.2(CLDN14):c.-297G>A GRCh37: Chr21:37852008 GRCh38: Chr21:36479710	CLDN14, CLDN14-AS1		Autosomal recessive nonsyndromic hearing loss 29	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 33990230.	NM_001146079.2(CLDN14):c.-290A>G GRCh37: Chr21:37852001 GRCh38: Chr21:36479703	CLDN14, CLDN14-AS1		Autosomal recessive nonsyndromic hearing loss 29	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 33990131.	NM_001146079.2(CLDN14):c.-264G>C GRCh37: Chr21:37851975 GRCh38: Chr21:36479677	CLDN14, CLDN14-AS1		Autosomal recessive nonsyndromic hearing loss 29	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 33990032.	NM_001146079.2(CLDN14):c.-242C>T GRCh37: Chr21:37851953 GRCh38: Chr21:36479655	CLDN14, CLDN14-AS1		Autosomal recessive nonsyndromic hearing loss 29	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 33989933.	NM_001146079.2(CLDN14):c.-187C>T GRCh37: Chr21:37851898 GRCh38: Chr21:36479600	CLDN14, CLDN14-AS1		Autosomal recessive nonsyndromic hearing loss 29	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33989834.	NM_001146079.2(CLDN14):c.-136G>A GRCh37: Chr21:37851847 GRCh38: Chr21:36479549	CLDN14, CLDN14-AS1		Autosomal recessive nonsyndromic hearing loss 29	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33989735.	NM_001146079.2(CLDN14):c.-82+9G>C GRCh37: Chr21:37851784 GRCh38: Chr21:36479486	CLDN14, CLDN14-AS1		Autosomal recessive nonsyndromic hearing loss 29	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33989636.	NM_001146079.2(CLDN14):c.-82+2024G>A GRCh37: Chr21:37849769 GRCh38: Chr21:36477471	CLDN14, CLDN14-AS1		Autosomal recessive nonsyndromic hearing loss 29	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 33989537.	NM_001146079.2(CLDN14):c.-75G>T GRCh37: Chr21:37834068 GRCh38: Chr21:36461770	CLDN14, CLDN14-AS1		not provided, Autosomal recessive nonsyndromic hearing loss 29	Conflicting interpretations of pathogenicity (Jul 12, 2018)	criteria provided, conflicting interpretations
Select item 33989438.	NM_001146079.2(CLDN14):c.-54G>A GRCh37: Chr21:37834047 GRCh38: Chr21:36461749	CLDN14, CLDN14-AS1		Autosomal recessive nonsyndromic hearing loss 29	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 33989339.	NM_001146079.2(CLDN14):c.-46G>A GRCh37: Chr21:37834039 GRCh38: Chr21:36461741	CLDN14, CLDN14-AS1		Autosomal recessive nonsyndromic hearing loss 29, not provided	Conflicting interpretations of pathogenicity (May 21, 2018)	criteria provided, conflicting interpretations
Select item 33989240.	NM_001146079.2(CLDN14):c.96G>C (p.Arg32Ser) GRCh37: Chr21:37833898 GRCh38: Chr21:36461600	CLDN14, CLDN14-AS1	R32S	Autosomal recessive nonsyndromic hearing loss 29	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 33989141.	NM_001146079.2(CLDN14):c.295G>A (p.Val99Ile) GRCh37: Chr21:37833699 GRCh38: Chr21:36461401	CLDN14, CLDN14-AS1	V99I	not provided, Autosomal recessive nonsyndromic hearing loss 29	Uncertain significance (Feb 14, 2023)	criteria provided, multiple submitters, no conflicts
Select item 33989042.	NM_001146079.2(CLDN14):c.378C>G (p.Ile126Met) GRCh37: Chr21:37833616 GRCh38: Chr21:36461318	CLDN14, CLDN14-AS1	I126M	Autosomal recessive nonsyndromic hearing loss 29	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 33988943.	NM_001146079.2(CLDN14):c.450G>T (p.Pro150=) GRCh37: Chr21:37833544 GRCh38: Chr21:36461246	CLDN14, CLDN14-AS1		Autosomal recessive nonsyndromic hearing loss 29	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 33988844.	NM_001146079.2(CLDN14):c.522G>A (p.Ser174=) GRCh37: Chr21:37833472 GRCh38: Chr21:36461174	CLDN14, CLDN14-AS1		Autosomal recessive nonsyndromic hearing loss 29, not provided	Conflicting interpretations of pathogenicity (May 7, 2020)	criteria provided, conflicting interpretations
Select item 33988745.	NM_001146079.2(CLDN14):c.535A>G (p.Thr179Ala) GRCh37: Chr21:37833459 GRCh38: Chr21:36461161	CLDN14, CLDN14-AS1	T179A	Autosomal recessive nonsyndromic hearing loss 29	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33988646.	NM_001146079.2(CLDN14):c.587C>T (p.Ala196Val) GRCh37: Chr21:37833407 GRCh38: Chr21:36461109	CLDN14, CLDN14-AS1	A196V	Autosomal recessive nonsyndromic hearing loss 29, not provided	Uncertain significance (Aug 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 33988547.	NM_001146079.2(CLDN14):c.*51G>A GRCh37: Chr21:37833223 GRCh38: Chr21:36460925	CLDN14, CLDN14-AS1		Autosomal recessive nonsyndromic hearing loss 29, not provided	Benign/Likely benign (Jul 17, 2018)	criteria provided, multiple submitters, no conflicts
Select item 33988448.	NM_001146079.2(CLDN14):c.*107G>A GRCh37: Chr21:37833167 GRCh38: Chr21:36460869	CLDN14, CLDN14-AS1		Autosomal recessive nonsyndromic hearing loss 29	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 29006549.	NM_001146079.2(CLDN14):c.321C>T (p.Cys107=) GRCh37: Chr21:37833673 GRCh38: Chr21:36461375	CLDN14, CLDN14-AS1		not provided, Autosomal recessive nonsyndromic hearing loss 29	Conflicting interpretations of pathogenicity (Mar 4, 2022)	criteria provided, conflicting interpretations
Select item 22851950.	NM_001146079.2(CLDN14):c.488C>T (p.Ala163Val) GRCh37: Chr21:37833506 GRCh38: Chr21:36461208	CLDN14, CLDN14-AS1	A163V	not specified, not provided, Autosomal recessive nonsyndromic hearing loss 29	Conflicting interpretations of pathogenicity (Jul 27, 2023)	criteria provided, conflicting interpretations
Select item 19657451.	NM_001146079.2(CLDN14):c.*10G>C GRCh37: Chr21:37833264 GRCh38: Chr21:36460966	CLDN14, CLDN14-AS1		not specified, not provided, Autosomal recessive nonsyndromic hearing loss 29	Conflicting interpretations of pathogenicity (Nov 25, 2019)	criteria provided, conflicting interpretations
Select item 18933352.	NM_001146079.2(CLDN14):c.694G>A (p.Gly232Arg) GRCh37: Chr21:37833300 GRCh38: Chr21:36461002	CLDN14, CLDN14-AS1	G232R	Autosomal recessive nonsyndromic hearing loss 29	Pathogenic/Likely pathogenic (Feb 26, 2019)	no assertion criteria provided
Select item 18933253.	NM_001146079.2(CLDN14):c.167G>A (p.Trp56Ter) GRCh37: Chr21:37833827 GRCh38: Chr21:36461529	CLDN14-AS1, CLDN14	W56*	CLDN14-related condition	Pathogenic (Aug 18, 2022)	criteria provided, single submitter
Select item 18933154.	NM_001146079.2(CLDN14):c.242G>A (p.Arg81His) GRCh37: Chr21:37833752 GRCh38: Chr21:36461454	CLDN14, CLDN14-AS1	R81H	CLDN14-related condition, not provided, Hearing impairment	Pathogenic/Likely pathogenic (Aug 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 17860355.	NM_001146079.2(CLDN14):c.300C>T (p.Ile100=) GRCh37: Chr21:37833694 GRCh38: Chr21:36461396	CLDN14, CLDN14-AS1		not specified, not provided, Autosomal recessive nonsyndromic hearing loss 29	Benign (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 16296756.	NM_001146079.2(CLDN14):c.369C>A (p.Thr123=) GRCh37: Chr21:37833625 GRCh38: Chr21:36461327	CLDN14-AS1, CLDN14		not specified, Autosomal recessive nonsyndromic hearing loss 29	Likely benign (Apr 27, 2017)	criteria provided, multiple submitters, no conflicts
Select item 6448757.	NM_001146079.2(CLDN14):c.18G>A (p.Val6=) GRCh37: Chr21:37833976 GRCh38: Chr21:36461678	CLDN14, CLDN14-AS1		not provided, Autosomal recessive nonsyndromic hearing loss 29	Conflicting interpretations of pathogenicity (Feb 5, 2022)	criteria provided, conflicting interpretations
Select item 4408958.	NM_001146079.2(CLDN14):c.690C>T (p.His230=) GRCh37: Chr21:37833304 GRCh38: Chr21:36461006	CLDN14, CLDN14-AS1		not specified, not provided, Autosomal recessive nonsyndromic hearing loss 29	Conflicting interpretations of pathogenicity (Oct 31, 2022)	criteria provided, conflicting interpretations
Select item 4408859.	NM_001146079.2(CLDN14):c.687G>A (p.Thr229=) GRCh37: Chr21:37833307 GRCh38: Chr21:36461009	CLDN14, CLDN14-AS1		not specified, not provided, Autosomal recessive nonsyndromic hearing loss 29	Benign (Oct 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4408760.	NM_001146079.2(CLDN14):c.63G>A (p.Thr21=) GRCh37: Chr21:37833931 GRCh38: Chr21:36461633	CLDN14, CLDN14-AS1		not provided, not specified, Autosomal recessive nonsyndromic hearing loss 29	Benign/Likely benign (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4408661.	NM_001146079.2(CLDN14):c.633C>T (p.Tyr211=) GRCh37: Chr21:37833361 GRCh38: Chr21:36461063	CLDN14, CLDN14-AS1		not specified, not provided, Autosomal recessive nonsyndromic hearing loss 29	Benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4408562.	NM_001146079.2(CLDN14):c.621C>T (p.Thr207=) GRCh37: Chr21:37833373 GRCh38: Chr21:36461075	CLDN14, CLDN14-AS1		not specified, not provided, Autosomal recessive nonsyndromic hearing loss 29	Conflicting interpretations of pathogenicity (Oct 8, 2022)	criteria provided, conflicting interpretations
Select item 4408463.	NM_001146079.2(CLDN14):c.243C>T (p.Arg81=) GRCh37: Chr21:37833751 GRCh38: Chr21:36461453	CLDN14, CLDN14-AS1		not specified, not provided, Autosomal recessive nonsyndromic hearing loss 29	Benign (Oct 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4408364.	NM_001146079.2(CLDN14):c.11C>T (p.Thr4Met) GRCh37: Chr21:37833983 GRCh38: Chr21:36461685	CLDN14, CLDN14-AS1	T4M	not specified, not provided, Autosomal recessive nonsyndromic hearing loss 29	Benign/Likely benign (Oct 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 485265.	NM_001146079.2(CLDN14):c.301G>A (p.Gly101Arg) GRCh37: Chr21:37833693 GRCh38: Chr21:36461395	CLDN14, CLDN14-AS1	G101R	not provided, Autosomal recessive nonsyndromic hearing loss 29	Conflicting interpretations of pathogenicity (Jan 20, 2023)	criteria provided, conflicting interpretations
Select item 485166.	NM_001146079.2(CLDN14):c.254T>A (p.Val85Asp) GRCh37: Chr21:37833740 GRCh38: Chr21:36461442	CLDN14, CLDN14-AS1	V85D	Autosomal recessive nonsyndromic hearing loss 29	Pathogenic (May 22, 2022)	criteria provided, single submitter
Select item 485067.	NM_001146079.2(CLDN14):c.398del (p.Met133fs) GRCh37: Chr21:37833596 GRCh38: Chr21:36461298	CLDN14, CLDN14-AS1	M133fs	Autosomal recessive nonsyndromic hearing loss 29	Pathogenic (Jan 12, 2001)	no assertion criteria provided

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Items: 67