ClinVar for MedGen (Select 322088) - ClinVar

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Items: 46

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 13423101.	NM_001370524.1(TMIE):c.-507_-66-2329del GRCh37: Chr3:46735666-46744949 GRCh38: Chr3:46694176-46703459	TMIE		Autosomal recessive nonsyndromic hearing loss 6	Pathogenic (Feb 24, 2022)	criteria provided, single submitter
Select item 11856762.	NM_147196.3(TMIE):c.144_145del (p.Val49fs) GRCh37: Chr3:46747330-46747331 GRCh38: Chr3:46705840-46705841	TMIE	V49fs	Autosomal recessive nonsyndromic hearing loss 6	Pathogenic	no assertion criteria provided
Select item 11755463.	NM_147196.3(TMIE):c.148G>T (p.Val50Leu) GRCh37: Chr3:46747334 GRCh38: Chr3:46705844	TMIE	V50L	not provided, Autosomal recessive nonsyndromic hearing loss 6	Conflicting interpretations of pathogenicity (Mar 26, 2020)	criteria provided, conflicting interpretations
Select item 9029604.	NM_147196.3(TMIE):c.*803C>T GRCh37: Chr3:46751981 GRCh38: Chr3:46710491	TMIE		Autosomal recessive nonsyndromic hearing loss 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 9029595.	NM_147196.3(TMIE):c.*719G>A GRCh37: Chr3:46751897 GRCh38: Chr3:46710407	TMIE		Autosomal recessive nonsyndromic hearing loss 6	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 9029586.	NM_147196.3(TMIE):c.*671G>A GRCh37: Chr3:46751849 GRCh38: Chr3:46710359	TMIE		Autosomal recessive nonsyndromic hearing loss 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 9029577.	NM_147196.3(TMIE):c.*642C>T GRCh37: Chr3:46751820 GRCh38: Chr3:46710330	TMIE		Autosomal recessive nonsyndromic hearing loss 6	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 9020818.	NM_147196.3(TMIE):c.*260C>A GRCh37: Chr3:46751438 GRCh38: Chr3:46709948	TMIE		not provided, Autosomal recessive nonsyndromic hearing loss 6	Conflicting interpretations of pathogenicity (Dec 22, 2018)	criteria provided, conflicting interpretations
Select item 9020809.	NM_147196.3(TMIE):c.*253G>A GRCh37: Chr3:46751431 GRCh38: Chr3:46709941	TMIE		Autosomal recessive nonsyndromic hearing loss 6	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90207910.	NM_147196.3(TMIE):c.*148A>G GRCh37: Chr3:46751326 GRCh38: Chr3:46709836	TMIE		Autosomal recessive nonsyndromic hearing loss 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90207811.	NM_147196.3(TMIE):c.*94A>C GRCh37: Chr3:46751272 GRCh38: Chr3:46709782	TMIE		Autosomal recessive nonsyndromic hearing loss 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90207712.	NM_147196.3(TMIE):c.*47T>A GRCh37: Chr3:46751225 GRCh38: Chr3:46709735	TMIE		Autosomal recessive nonsyndromic hearing loss 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90150613.	NM_147196.3(TMIE):c.413C>T (p.Ala138Val) GRCh37: Chr3:46751120 GRCh38: Chr3:46709630	TMIE	A138V, A85V	Autosomal recessive nonsyndromic hearing loss 6	Uncertain significance (Apr 28, 2017)	criteria provided, single submitter
Select item 90150514.	NM_147196.3(TMIE):c.192G>A (p.Ser64=) GRCh37: Chr3:46747378 GRCh38: Chr3:46705888	TMIE		not provided, Autosomal recessive nonsyndromic hearing loss 6	Conflicting interpretations of pathogenicity (Jun 2, 2021)	criteria provided, conflicting interpretations
Select item 90040615.	NM_147196.3(TMIE):c.*974C>T GRCh37: Chr3:46752152 GRCh38: Chr3:46710662	TMIE		Autosomal recessive nonsyndromic hearing loss 6	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90035316.	NM_147196.3(TMIE):c.64C>T (p.Leu22Phe) GRCh37: Chr3:46743041 GRCh38: Chr3:46701551	TMIE	L22F	Autosomal recessive nonsyndromic hearing loss 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90035217.	NM_147196.3(TMIE):c.-8G>T GRCh37: Chr3:46742970 GRCh38: Chr3:46701480	TMIE		Autosomal recessive nonsyndromic hearing loss 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90035118.	NM_147196.3(TMIE):c.-73C>T GRCh37: Chr3:46742905 GRCh38: Chr3:46701415	TMIE		Autosomal recessive nonsyndromic hearing loss 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 37253819.	NM_147196.3(TMIE):c.92A>G (p.Glu31Gly) GRCh37: Chr3:46743069 GRCh38: Chr3:46701579	TMIE	E31G	not provided, Autosomal recessive nonsyndromic hearing loss 6	Pathogenic/Likely pathogenic (Mar 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 34555920.	NM_147196.3(TMIE):c.*975G>A GRCh37: Chr3:46752153 GRCh38: Chr3:46710663	TMIE		Autosomal recessive nonsyndromic hearing loss 6	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 34555821.	NM_147196.3(TMIE):c.*905G>A GRCh37: Chr3:46752083 GRCh38: Chr3:46710593	TMIE		Autosomal recessive nonsyndromic hearing loss 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34555722.	NM_147196.3(TMIE):c.*829G>T GRCh37: Chr3:46752007 GRCh38: Chr3:46710517	TMIE		Autosomal recessive nonsyndromic hearing loss 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34555623.	NM_147196.3(TMIE):c.*767G>A GRCh37: Chr3:46751945 GRCh38: Chr3:46710455	TMIE		Autosomal recessive nonsyndromic hearing loss 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34555524.	NM_147196.3(TMIE):c.*695G>A GRCh37: Chr3:46751873 GRCh38: Chr3:46710383	TMIE		Autosomal recessive nonsyndromic hearing loss 6	Likely benign (Apr 27, 2017)	criteria provided, single submitter
Select item 34555425.	NM_147196.3(TMIE):c.*691G>A GRCh37: Chr3:46751869 GRCh38: Chr3:46710379	TMIE		Autosomal recessive nonsyndromic hearing loss 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34555326.	NM_147196.3(TMIE):c.*687C>T GRCh37: Chr3:46751865 GRCh38: Chr3:46710375	TMIE		Autosomal recessive nonsyndromic hearing loss 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34555227.	NM_147196.3(TMIE):c.*612C>T GRCh37: Chr3:46751790 GRCh38: Chr3:46710300	TMIE		Autosomal recessive nonsyndromic hearing loss 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34555128.	NM_147196.3(TMIE):c.*313C>T GRCh37: Chr3:46751491 GRCh38: Chr3:46710001	TMIE		Autosomal recessive nonsyndromic hearing loss 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34555029.	NM_147196.3(TMIE):c.*51C>T GRCh37: Chr3:46751229 GRCh38: Chr3:46709739	TMIE		Autosomal recessive nonsyndromic hearing loss 6, not provided	Benign/Likely benign (Jun 16, 2018)	criteria provided, multiple submitters, no conflicts
Select item 34554830.	NM_147196.3(TMIE):c.144A>G (p.Thr48=) GRCh37: Chr3:46747330 GRCh38: Chr3:46705840	TMIE		Autosomal recessive nonsyndromic hearing loss 6	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 34554731.	NM_147196.3(TMIE):c.-37C>A GRCh37: Chr3:46742941 GRCh38: Chr3:46701451	TMIE		not specified, Autosomal recessive nonsyndromic hearing loss 6	Benign/Likely benign (Jan 13, 2018)	criteria provided, multiple submitters, no conflicts
Select item 34554632.	NM_147196.2(TMIE):c.-154G>A GRCh37: Chr3:46742824 GRCh38: Chr3:46701334	TMIE		Autosomal recessive nonsyndromic hearing loss 6	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 28764233.	NM_147196.3(TMIE):c.206C>T (p.Ser69Phe) GRCh37: Chr3:46747392 GRCh38: Chr3:46705902	TMIE	S69F, S16F	not provided, Autosomal recessive nonsyndromic hearing loss 6	Conflicting interpretations of pathogenicity (Dec 24, 2020)	criteria provided, conflicting interpretations
Select item 22801434.	NM_147196.3(TMIE):c.219G>A (p.Thr73=) GRCh37: Chr3:46750623 GRCh38: Chr3:46709133	TMIE		Autosomal recessive nonsyndromic hearing loss 6, not specified, not provided	Conflicting interpretations of pathogenicity (Feb 1, 2023)	criteria provided, conflicting interpretations
Select item 16546035.	NM_147196.3(TMIE):c.191C>T (p.Ser64Leu) GRCh37: Chr3:46747377 GRCh38: Chr3:46705887	TMIE	S64L, S11L	not specified, not provided, Autosomal recessive nonsyndromic hearing loss 6	Conflicting interpretations of pathogenicity (Aug 9, 2022)	criteria provided, conflicting interpretations
Select item 16545936.	NM_147196.3(TMIE):c.174C>T (p.His58=) GRCh37: Chr3:46747360 GRCh38: Chr3:46705870	TMIE		not specified, not provided, Autosomal recessive nonsyndromic hearing loss 6	Conflicting interpretations of pathogenicity (Dec 21, 2021)	criteria provided, conflicting interpretations
Select item 4796237.	NM_147196.3(TMIE):c.367AAG[8] (p.Lys131del) GRCh37: Chr3:46751074-46751076 GRCh38: Chr3:46709584-46709586	TMIE	K131del, K78del	not specified, not provided, Autosomal recessive nonsyndromic hearing loss 6	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4796038.	NM_147196.3(TMIE):c.366T>G (p.Asp122Glu) GRCh37: Chr3:46751073 GRCh38: Chr3:46709583	TMIE	D122E, D69E	Autosomal recessive nonsyndromic hearing loss 6, not specified, not provided	Conflicting interpretations of pathogenicity (Aug 14, 2021)	criteria provided, conflicting interpretations
Select item 4795939.	NM_147196.3(TMIE):c.34G>T (p.Val12Leu) GRCh37: Chr3:46743011 GRCh38: Chr3:46701521	TMIE	V12L	Inborn genetic diseases, Autosomal recessive nonsyndromic hearing loss 6, not provided, not specified	Uncertain significance (Oct 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4795640.	NM_147196.3(TMIE):c.102G>A (p.Thr34=) GRCh37: Chr3:46747288 GRCh38: Chr3:46705798	TMIE		Autosomal recessive nonsyndromic hearing loss 6, not specified, not provided	Conflicting interpretations of pathogenicity (Sep 23, 2022)	criteria provided, conflicting interpretations
Select item 339441.	NM_147196.3(TMIE):c.170G>A (p.Trp57Ter) GRCh37: Chr3:46747356 GRCh38: Chr3:46705866	TMIE	W57, W4	Autosomal recessive nonsyndromic hearing loss 6	Pathogenic (Jun 1, 2009)	no assertion criteria provided
Select item 339342.	NM_147196.3(TMIE):c.94-2_98delinsC GRCh37: Chr3:46747278-46747284 GRCh38: Chr3:46705788-46705794	TMIE		Autosomal recessive nonsyndromic hearing loss 6	Pathogenic (Sep 1, 2002)	no assertion criteria provided
Select item 339243.	NM_147196.3(TMIE):c.274C>T (p.Arg92Trp) GRCh37: Chr3:46750678 GRCh38: Chr3:46709188	TMIE	R92W, R39W	Autosomal recessive nonsyndromic hearing loss 6	Conflicting interpretations of pathogenicity (Feb 7, 2018)	criteria provided, conflicting interpretations
Select item 339144.	NM_147196.3(TMIE):c.250C>T (p.Arg84Trp) GRCh37: Chr3:46750654 GRCh38: Chr3:46709164	TMIE	R84W, R31W	Sensorineural hearing impairment, not provided, Hearing impairment	Pathogenic/Likely pathogenic (Apr 12, 2021)	criteria provided, multiple submitters, no conflicts
Select item 339045.	NM_147196.3(TMIE):c.241C>T (p.Arg81Cys) GRCh37: Chr3:46750645 GRCh38: Chr3:46709155	TMIE	R81C, R28C	not provided	Uncertain significance (Aug 26, 2019)	criteria provided, single submitter
Select item 338946.	NM_147196.3(TMIE):c.122_125del (p.Pro41fs) GRCh37: Chr3:46747307-46747310 GRCh38: Chr3:46705817-46705820	TMIE	P41fs	Autosomal recessive nonsyndromic hearing loss 6	Pathogenic (Sep 1, 2002)	no assertion criteria provided

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Items: 46