ClinVar for MedGen (Select 355451) - ClinVar

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Items: 53

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25720221.	NM_002700.3(POU4F3):c.499G>A (p.Val167Met) GRCh37: Chr5:145719489 GRCh38: Chr5:146339926	LOC127814297, POU4F3	V167M	Autosomal dominant nonsyndromic hearing loss 15	not provided	no assertion provided
Select item 25028552.	NM_002700.3(POU4F3):c.879C>G (p.Phe293Leu) GRCh37: Chr5:145719869 GRCh38: Chr5:146340306	LOC127814297, POU4F3	F293L	Autosomal dominant nonsyndromic hearing loss 15	Likely pathogenic (May 24, 2023)	criteria provided, single submitter
Select item 25028543.	NM_002700.3(POU4F3):c.743T>C (p.Leu248Pro) GRCh37: Chr5:145719733 GRCh38: Chr5:146340170	LOC127814297, POU4F3	L248P	Autosomal dominant nonsyndromic hearing loss 15	Likely pathogenic (May 24, 2023)	criteria provided, single submitter
Select item 25028534.	NM_002700.3(POU4F3):c.564dup (p.Ala189fs) GRCh37: Chr5:145719552-145719553 GRCh38: Chr5:146339989-146339990	POU4F3, LOC127814297	A189fs	Autosomal dominant nonsyndromic hearing loss 15	Pathogenic (May 24, 2023)	criteria provided, single submitter
Select item 17123125.	NM_002700.3(POU4F3):c.604G>A (p.Gly202Arg) GRCh37: Chr5:145719594 GRCh38: Chr5:146340031	LOC127814297, POU4F3	G202R	Autosomal dominant nonsyndromic hearing loss 15	Uncertain significance (Jun 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 17102256.	NM_002700.3(POU4F3):c.960del (p.Trp321fs) GRCh37: Chr5:145719950 GRCh38: Chr5:146340387	LOC127814297, POU4F3	W321fs	Autosomal dominant nonsyndromic hearing loss 15	Uncertain significance (Mar 1, 2022)	no assertion criteria provided
Select item 17055487.	NM_002700.3(POU4F3):c.479del (p.Gly160fs) GRCh37: Chr5:145719467 GRCh38: Chr5:146339904	LOC127814297, POU4F3	G160fs	Autosomal dominant nonsyndromic hearing loss 15	Likely pathogenic (Sep 1, 2022)	criteria provided, single submitter
Select item 16999418.	NM_002700.3(POU4F3):c.37del (p.His13fs) GRCh37: Chr5:145718712 GRCh38: Chr5:146339149	LOC127814297, POU4F3	H13fs	Autosomal dominant nonsyndromic hearing loss 15	Pathogenic (Jul 28, 2022)	no assertion criteria provided
Select item 16871779.	NM_002700.3(POU4F3):c.66del (p.Ser23fs) GRCh37: Chr5:145718740 GRCh38: Chr5:146339177	LOC127814297, POU4F3	S23fs	Autosomal dominant nonsyndromic hearing loss 15	Pathogenic (May 22, 2022)	criteria provided, single submitter
Select item 152378210.	NM_002700.3(POU4F3):c.745C>A (p.Gln249Lys) GRCh37: Chr5:145719735 GRCh38: Chr5:146340172	LOC127814297, POU4F3	Q249K	not provided, Autosomal dominant nonsyndromic hearing loss 15	Uncertain significance (Aug 24, 2021)	criteria provided, multiple submitters, no conflicts
Select item 133411011.	NM_002700.3(POU4F3):c.694G>T (p.Glu232Ter) GRCh37: Chr5:145719684 GRCh38: Chr5:146340121	POU4F3, LOC127814297	E232*	Autosomal dominant nonsyndromic hearing loss 15	Pathogenic (Aug 1, 2020)	criteria provided, single submitter
Select item 133410712.	NM_002700.3(POU4F3):c.54del (p.Glu18fs) GRCh37: Chr5:145718728 GRCh38: Chr5:146339165	LOC127814297, POU4F3	E18fs	Autosomal dominant nonsyndromic hearing loss 15	Pathogenic (Aug 1, 2020)	criteria provided, single submitter
Select item 129938313.	NM_002700.3(POU4F3):c.373C>T (p.Pro125Ser) GRCh37: Chr5:145719363 GRCh38: Chr5:146339800	LOC127814297, POU4F3	P125S	Autosomal dominant nonsyndromic hearing loss 15	Uncertain significance (Oct 6, 2021)	criteria provided, single submitter
Select item 129774414.	NM_002700.3(POU4F3):c.952G>A (p.Val318Met) GRCh37: Chr5:145719942 GRCh38: Chr5:146340379	LOC127814297, POU4F3	V318M	Autosomal dominant nonsyndromic hearing loss 15	Likely pathogenic (May 24, 2023)	criteria provided, single submitter
Select item 118560815.	NM_002700.3(POU4F3):c.770C>T (p.Ala257Val) GRCh37: Chr5:145719760 GRCh38: Chr5:146340197	LOC127814297, POU4F3	A257V	Autosomal dominant nonsyndromic hearing loss 15	Uncertain significance	no assertion criteria provided
Select item 116400416.	NM_002700.3(POU4F3):c.886C>T (p.Gln296Ter) GRCh37: Chr5:145719876 GRCh38: Chr5:146340313	LOC127814297, POU4F3	Q296*	not provided	Likely pathogenic (May 8, 2023)	criteria provided, single submitter
Select item 97350017.	NM_002700.3(POU4F3):c.184del (p.Ala62fs) GRCh37: Chr5:145719173 GRCh38: Chr5:146339610	LOC127814297, POU4F3	A62fs	Autosomal dominant nonsyndromic hearing loss 15	Pathogenic (Mar 8, 2020)	criteria provided, single submitter
Select item 97349918.	NM_002700.3(POU4F3):c.635T>C (p.Leu212Pro) GRCh37: Chr5:145719625 GRCh38: Chr5:146340062	LOC127814297, POU4F3	L212P	Autosomal dominant nonsyndromic hearing loss 15	Likely pathogenic (Mar 8, 2020)	criteria provided, single submitter
Select item 97349819.	NM_002700.3(POU4F3):c.325C>T (p.His109Tyr) GRCh37: Chr5:145719315 GRCh38: Chr5:146339752	LOC127814297, POU4F3	H109Y	Autosomal dominant nonsyndromic hearing loss 15	Uncertain significance (Mar 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 97349720.	NM_002700.3(POU4F3):c.696G>T (p.Glu232Asp) GRCh37: Chr5:145719686 GRCh38: Chr5:146340123	LOC127814297, POU4F3	E232D	Autosomal dominant nonsyndromic hearing loss 15	Likely pathogenic (Mar 8, 2020)	criteria provided, single submitter
Select item 90769421.	NM_002700.3(POU4F3):c.24G>A (p.Gln8=) GRCh37: Chr5:145718699 GRCh38: Chr5:146339136	LOC127814297, POU4F3		Autosomal dominant nonsyndromic hearing loss 15	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90515722.	NM_002700.3(POU4F3):c.605G>C (p.Gly202Ala) GRCh37: Chr5:145719595 GRCh38: Chr5:146340032	LOC127814297, POU4F3	G202A	Autosomal dominant nonsyndromic hearing loss 15	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 90515623.	NM_002700.3(POU4F3):c.602T>C (p.Leu201Pro) GRCh37: Chr5:145719592 GRCh38: Chr5:146340029	LOC127814297, POU4F3	L201P	Autosomal dominant nonsyndromic hearing loss 15	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90435624.	NM_002700.3(POU4F3):c.508C>T (p.His170Tyr) GRCh37: Chr5:145719498 GRCh38: Chr5:146339935	LOC127814297, POU4F3	H170Y	Autosomal dominant nonsyndromic hearing loss 15	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90435525.	NM_002700.3(POU4F3):c.405G>A (p.Pro135=) GRCh37: Chr5:145719395 GRCh38: Chr5:146339832	LOC127814297, POU4F3		not provided, Autosomal dominant nonsyndromic hearing loss 15	Conflicting interpretations of pathogenicity (Jul 18, 2022)	criteria provided, conflicting interpretations
Select item 90435426.	NM_002700.3(POU4F3):c.309C>T (p.Leu103=) GRCh37: Chr5:145719299 GRCh38: Chr5:146339736	LOC127814297, POU4F3		not provided, Autosomal dominant nonsyndromic hearing loss 15	Conflicting interpretations of pathogenicity (Jun 9, 2022)	criteria provided, conflicting interpretations
Select item 90435327.	NM_002700.3(POU4F3):c.182C>A (p.Ala61Glu) GRCh37: Chr5:145719172 GRCh38: Chr5:146339609	LOC127814297, POU4F3	A61E	Autosomal dominant nonsyndromic hearing loss 15	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87350228.	NM_002700.3(POU4F3):c.327C>A (p.His109Gln) GRCh37: Chr5:145719317 GRCh38: Chr5:146339754	LOC127814297, POU4F3	H109Q	Autosomal dominant nonsyndromic hearing loss 15	Uncertain significance (Feb 7, 2020)	criteria provided, single submitter
Select item 66715529.	NM_002700.3(POU4F3):c.295C>T (p.His99Tyr) GRCh37: Chr5:145719285 GRCh38: Chr5:146339722	LOC127814297, POU4F3	H99Y	not specified, Autosomal dominant nonsyndromic hearing loss 15, not provided	Conflicting interpretations of pathogenicity (Sep 3, 2022)	criteria provided, conflicting interpretations
Select item 61833430.	NM_002700.3(POU4F3):c.171C>G (p.Ala57=) GRCh37: Chr5:145719161 GRCh38: Chr5:146339598	LOC127814297, POU4F3		Autosomal dominant nonsyndromic hearing loss 15, not provided	Conflicting interpretations of pathogenicity (Apr 18, 2018)	criteria provided, conflicting interpretations
Select item 54698331.	NM_002700.3(POU4F3):c.214C>G (p.His72Asp) GRCh37: Chr5:145719204 GRCh38: Chr5:146339641	LOC127814297, POU4F3	H72D	Inborn genetic diseases, not provided, Hearing impairment, Autosomal dominant nonsyndromic hearing loss 15	Conflicting interpretations of pathogenicity (Jul 17, 2023)	criteria provided, conflicting interpretations
Select item 50467232.	NM_002700.3(POU4F3):c.513C>A (p.Ser171Arg) GRCh37: Chr5:145719503 GRCh38: Chr5:146339940	LOC127814297, POU4F3	S171R	not specified, not provided, Inborn genetic diseases, Autosomal dominant nonsyndromic hearing loss 15	Uncertain significance (Mar 21, 2023)	criteria provided, multiple submitters, no conflicts
Select item 37399733.	NM_002700.3(POU4F3):c.553C>T (p.Arg185Cys) GRCh37: Chr5:145719543 GRCh38: Chr5:146339980	POU4F3, LOC127814297	R185C	Autosomal dominant nonsyndromic hearing loss 15	Uncertain significance (Aug 28, 2019)	criteria provided, multiple submitters, no conflicts
Select item 37285334.	NM_002700.3(POU4F3):c.502del (p.Ala168fs) GRCh37: Chr5:145719491 GRCh38: Chr5:146339928	LOC127814297, POU4F3	A168fs	not provided, Autosomal dominant nonsyndromic hearing loss 15	Pathogenic/Likely pathogenic (May 4, 2020)	criteria provided, multiple submitters, no conflicts
Select item 35138635.	NM_002700.3(POU4F3):c.948C>G (p.Asn316Lys) GRCh37: Chr5:145719938 GRCh38: Chr5:146340375	LOC127814297, POU4F3	N316K	not provided, not specified, Autosomal dominant nonsyndromic hearing loss 15	Conflicting interpretations of pathogenicity (Aug 19, 2022)	criteria provided, conflicting interpretations
Select item 35138436.	NM_002700.3(POU4F3):c.624G>A (p.Val208=) GRCh37: Chr5:145719614 GRCh38: Chr5:146340051	LOC127814297, POU4F3		not provided, Autosomal dominant nonsyndromic hearing loss 15	Conflicting interpretations of pathogenicity (Feb 21, 2022)	criteria provided, conflicting interpretations
Select item 35138337.	NM_002700.3(POU4F3):c.591G>A (p.Arg197=) GRCh37: Chr5:145719581 GRCh38: Chr5:146340018	LOC127814297, POU4F3		Autosomal dominant nonsyndromic hearing loss 15	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 35138238.	NM_002700.3(POU4F3):c.577C>T (p.Arg193Cys) GRCh37: Chr5:145719567 GRCh38: Chr5:146340004	LOC127814297, POU4F3	R193C	Autosomal dominant nonsyndromic hearing loss 15	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 35138139.	NM_002700.3(POU4F3):c.442C>T (p.His148Tyr) GRCh37: Chr5:145719432 GRCh38: Chr5:146339869	LOC127814297, POU4F3	H148Y	not provided, Inborn genetic diseases, Autosomal dominant nonsyndromic hearing loss 15	Uncertain significance (Jan 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35138040.	NM_002700.3(POU4F3):c.113C>A (p.Ala38Asp) GRCh37: Chr5:145718788 GRCh38: Chr5:146339225	LOC127814297, POU4F3	A38D	Autosomal dominant nonsyndromic hearing loss 15	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35137941.	NM_002700.3(POU4F3):c.-44C>A GRCh37: Chr5:145718632 GRCh38: Chr5:146339069	LOC127814297, POU4F3		Autosomal dominant nonsyndromic hearing loss 15	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35137842.	NM_002700.3(POU4F3):c.-79C>A GRCh37: Chr5:145718597 GRCh38: Chr5:146339034	LOC127814297, POU4F3		Autosomal dominant nonsyndromic hearing loss 15	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 22785643.	NM_002700.3(POU4F3):c.792C>T (p.Ser264=) GRCh37: Chr5:145719782 GRCh38: Chr5:146340219	LOC127814297, POU4F3		not provided, not specified, Autosomal dominant nonsyndromic hearing loss 15	Benign (Mar 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 17863044.	NM_002700.3(POU4F3):c.378G>A (p.Thr126=) GRCh37: Chr5:145719368 GRCh38: Chr5:146339805	LOC127814297, POU4F3		not specified, not provided, Autosomal dominant nonsyndromic hearing loss 15	Benign/Likely benign (Jul 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 16498345.	NM_002700.3(POU4F3):c.663C>A (p.Gly221=) GRCh37: Chr5:145719653 GRCh38: Chr5:146340090	LOC127814297, POU4F3		not specified, not provided, Autosomal dominant nonsyndromic hearing loss 15	Benign (Oct 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 16498146.	NM_002700.3(POU4F3):c.403C>T (p.Pro135Ser) GRCh37: Chr5:145719393 GRCh38: Chr5:146339830	LOC127814297, POU4F3	P135S	not specified, not provided, Autosomal dominant nonsyndromic hearing loss 15	Uncertain significance (Jul 15, 2021)	criteria provided, multiple submitters, no conflicts
Select item 10152547.	NM_002700.3(POU4F3):c.662_675del (p.Gly221fs) GRCh37: Chr5:145719652-145719665 GRCh38: Chr5:146340089-146340102	LOC127814297, POU4F3	G221fs	Autosomal dominant nonsyndromic hearing loss 15	Pathogenic (Jun 4, 2010)	no assertion criteria provided
Select item 9671048.	NM_002700.3(POU4F3):c.977G>A (p.Arg326Lys) GRCh37: Chr5:145719967 GRCh38: Chr5:146340404	LOC127814297, POU4F3	R326K	Autosomal dominant nonsyndromic hearing loss 15	Pathogenic (Jan 1, 2013)	no assertion criteria provided
Select item 4458349.	NM_002700.3(POU4F3):c.90C>T (p.Ala30=) GRCh37: Chr5:145718765 GRCh38: Chr5:146339202	LOC127814297, POU4F3		not specified, not provided, Autosomal dominant nonsyndromic hearing loss 15	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4457950.	NM_002700.3(POU4F3):c.837G>T (p.Thr279=) GRCh37: Chr5:145719827 GRCh38: Chr5:146340264	LOC127814297, POU4F3		not specified, not provided, Autosomal dominant nonsyndromic hearing loss 15	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 708051.	NM_002700.3(POU4F3):c.668T>C (p.Leu223Pro) GRCh37: Chr5:145719658 GRCh38: Chr5:146340095	LOC127814297, POU4F3	L223P	Autosomal dominant nonsyndromic hearing loss 15	Pathogenic (Apr 1, 2008)	no assertion criteria provided
Select item 707952.	NM_002700.3(POU4F3):c.865C>T (p.Leu289Phe) GRCh37: Chr5:145719855 GRCh38: Chr5:146340292	LOC127814297, POU4F3	L289F	Autosomal dominant nonsyndromic hearing loss 15	Pathogenic (Apr 1, 2008)	no assertion criteria provided
Select item 707853.	NM_002700.3(POU4F3):c.882_889del (p.Ile295fs) GRCh37: Chr5:145719870-145719877 GRCh38: Chr5:146340307-146340314	LOC127814297, POU4F3	I295fs	Autosomal dominant nonsyndromic hearing loss 15	Pathogenic (Nov 1, 2003)	no assertion criteria provided

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Items: 53