ClinVar for MedGen (Select 322046) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24999951.	NM_001256317.3(TMPRSS3):c.620G>A (p.Cys207Tyr) GRCh37: Chr21:43803304 GRCh38: Chr21:42383195	TMPRSS3	C207Y, C208Y, C80Y	Autosomal recessive nonsyndromic hearing loss 8	Uncertain significance (Apr 27, 2023)	criteria provided, single submitter
Select item 24456702.	NM_001256317.3(TMPRSS3):c.188T>G (p.Leu63Arg) GRCh37: Chr21:43810053 GRCh38: Chr21:42389944	TMPRSS3	L63R, L64R	Autosomal recessive nonsyndromic hearing loss 8	Likely pathogenic (Feb 28, 2023)	criteria provided, single submitter
Select item 24456693.	NM_001256317.3(TMPRSS3):c.818G>T (p.Gly273Val) GRCh37: Chr21:43802308 GRCh38: Chr21:42382199	TMPRSS3	G273V, G274V, G146V	Autosomal recessive nonsyndromic hearing loss 8	Likely pathogenic (Feb 28, 2023)	criteria provided, single submitter
Select item 24456684.	NM_001256317.3(TMPRSS3):c.917C>T (p.Ala306Val) GRCh37: Chr21:43802209 GRCh38: Chr21:42382100	TMPRSS3	A306V, A307V, A179V	Autosomal recessive nonsyndromic hearing loss 8	Likely pathogenic (Feb 28, 2023)	criteria provided, single submitter
Select item 24456675.	NM_001256317.3(TMPRSS3):c.1328T>C (p.Ile443Thr) GRCh37: Chr21:43795841 GRCh38: Chr21:42375732	TMPRSS3	I444T, I317T, I443T, I445T	Autosomal recessive nonsyndromic hearing loss 8	Likely pathogenic (Feb 28, 2023)	criteria provided, single submitter
Select item 21383896.	NM_001256317.3(TMPRSS3):c.999del (p.Asp334fs) GRCh37: Chr21:43800275 GRCh38: Chr21:42380166	TMPRSS3	D334fs, D207fs	not provided, Autosomal recessive nonsyndromic hearing loss 8	Pathogenic (Feb 28, 2023)	criteria provided, multiple submitters, no conflicts
Select item 17056157.	NM_001256317.3(TMPRSS3):c.771C>G (p.His257Gln) GRCh37: Chr21:43803153 GRCh38: Chr21:42383044	TMPRSS3	H130Q, H257Q, H258Q	Autosomal recessive nonsyndromic hearing loss 8	Likely pathogenic (Sep 1, 2022)	criteria provided, single submitter
Select item 17053918.	NM_001256317.3(TMPRSS3):c.133C>A (p.Pro45Thr) GRCh37: Chr21:43810108 GRCh38: Chr21:42389999	TMPRSS3	P45T	Autosomal recessive nonsyndromic hearing loss 8	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 17053589.	NM_001256317.3(TMPRSS3):c.1192G>A (p.Gly398Arg) GRCh37: Chr21:43795977 GRCh38: Chr21:42375868	TMPRSS3	G272R, G398R, G399R, G400R	Autosomal recessive nonsyndromic hearing loss 8	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 133958110.	NM_001256317.3(TMPRSS3):c.764C>T (p.Ala255Val) GRCh37: Chr21:43803160 GRCh38: Chr21:42383051	TMPRSS3	A128V, A255V	Autosomal recessive nonsyndromic hearing loss 8, not provided	Uncertain significance (Feb 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 121002811.	NM_001256317.3(TMPRSS3):c.46C>T (p.Arg16Ter) GRCh37: Chr21:43815481 GRCh38: Chr21:42395372	TMPRSS3	R16*	Autosomal recessive nonsyndromic hearing loss 8	Pathogenic (Nov 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 118565412.	NM_001256317.3(TMPRSS3):c.147dup (p.Pro50fs) GRCh37: Chr21:43810093-43810094 GRCh38: Chr21:42389984-42389985	TMPRSS3	P50fs	Autosomal recessive nonsyndromic hearing loss 8	Pathogenic	no assertion criteria provided
Select item 117571113.	NM_001256317.3(TMPRSS3):c.749del (p.Leu250fs) GRCh37: Chr21:43803175 GRCh38: Chr21:42383066	TMPRSS3	L123fs, L250fs	Autosomal recessive nonsyndromic hearing loss 8	Pathogenic (Feb 10, 2021)	criteria provided, single submitter
Select item 117571014.	NM_001256317.3(TMPRSS3):c.646C>T (p.Arg216Cys) GRCh37: Chr21:43803278 GRCh38: Chr21:42383169	TMPRSS3	R216C, R89C	Autosomal recessive nonsyndromic hearing loss 8	Pathogenic (Oct 7, 2020)	criteria provided, single submitter
Select item 117570915.	NM_001256317.3(TMPRSS3):c.400A>T (p.Lys134Ter) GRCh37: Chr21:43808558 GRCh38: Chr21:42388449	TMPRSS3	K134, K7	Autosomal recessive nonsyndromic hearing loss 8	Pathogenic (Oct 7, 2020)	criteria provided, single submitter
Select item 116400016.	NM_001256317.3(TMPRSS3):c.595G>A (p.Val199Met) GRCh37: Chr21:43804100 GRCh38: Chr21:42383991	TMPRSS3	V199M, V72M	not provided, Autosomal recessive nonsyndromic hearing loss 8	Conflicting interpretations of pathogenicity (Jun 9, 2021)	criteria provided, conflicting interpretations
Select item 99672417.	NM_001256317.3(TMPRSS3):c.1216T>C (p.Cys406Arg) GRCh37: Chr21:43795953 GRCh38: Chr21:42375844	TMPRSS3	C280R, C406R, C407R	not provided, Autosomal recessive nonsyndromic hearing loss 8	Pathogenic (Feb 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 97462118.	NM_001256317.3(TMPRSS3):c.771C>A (p.His257Gln) GRCh37: Chr21:43803153 GRCh38: Chr21:42383044	TMPRSS3	H130Q, H257Q	Autosomal recessive nonsyndromic hearing loss 8	Likely pathogenic (Mar 31, 2020)	criteria provided, single submitter
Select item 89860719.	NM_001256317.3(TMPRSS3):c.161T>C (p.Ile54Thr) GRCh37: Chr21:43810080 GRCh38: Chr21:42389971	TMPRSS3	I54T	Autosomal recessive nonsyndromic hearing loss 8, not provided	Uncertain significance (Sep 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 89853620.	NM_001256317.3(TMPRSS3):c.1048+5G>A GRCh37: Chr21:43800221 GRCh38: Chr21:42380112	TMPRSS3		Autosomal recessive nonsyndromic hearing loss 8	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89853521.	NM_001256317.3(TMPRSS3):c.1077G>A (p.Ala359=) GRCh37: Chr21:43796764 GRCh38: Chr21:42376655	TMPRSS3		Autosomal recessive nonsyndromic hearing loss 8	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89846522.	NM_001256317.3(TMPRSS3):c.*492C>T GRCh37: Chr21:43792379 GRCh38: Chr21:42372270	TMPRSS3		Autosomal recessive nonsyndromic hearing loss 8	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89846423.	NM_001256317.3(TMPRSS3):c.*493C>T GRCh37: Chr21:43792378 GRCh38: Chr21:42372269	TMPRSS3		Autosomal recessive nonsyndromic hearing loss 8	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89846324.	NM_001256317.3(TMPRSS3):c.*573C>T GRCh37: Chr21:43792298 GRCh38: Chr21:42372189	TMPRSS3		Autosomal recessive nonsyndromic hearing loss 8	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89846225.	NM_001256317.3(TMPRSS3):c.*664C>T GRCh37: Chr21:43792207 GRCh38: Chr21:42372098	TMPRSS3		Autosomal recessive nonsyndromic hearing loss 8	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89744026.	NM_001256317.3(TMPRSS3):c.213C>T (p.Phe71=) GRCh37: Chr21:43809147 GRCh38: Chr21:42389038	TMPRSS3		Autosomal recessive nonsyndromic hearing loss 8, not provided	Conflicting interpretations of pathogenicity (Jun 24, 2021)	criteria provided, conflicting interpretations
Select item 89743927.	NM_001256317.3(TMPRSS3):c.372G>A (p.Ser124=) GRCh37: Chr21:43808586 GRCh38: Chr21:42388477	TMPRSS3		Autosomal recessive nonsyndromic hearing loss 8, not provided	Conflicting interpretations of pathogenicity (Oct 8, 2022)	criteria provided, conflicting interpretations
Select item 89743828.	NM_001256317.3(TMPRSS3):c.411C>T (p.Tyr137=) GRCh37: Chr21:43808547 GRCh38: Chr21:42388438	TMPRSS3		Autosomal recessive nonsyndromic hearing loss 8	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 89737729.	NM_001256317.3(TMPRSS3):c.1344+8C>T GRCh37: Chr21:43795817 GRCh38: Chr21:42375708	TMPRSS3		not provided, Autosomal recessive nonsyndromic hearing loss 8	Conflicting interpretations of pathogenicity (Aug 9, 2022)	criteria provided, conflicting interpretations
Select item 89737630.	NM_001256317.3(TMPRSS3):c.1344+9G>A GRCh37: Chr21:43795816 GRCh38: Chr21:42375707	TMPRSS3		Autosomal recessive nonsyndromic hearing loss 8	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89737531.	NM_001256317.3(TMPRSS3):c.*53G>A GRCh37: Chr21:43792818 GRCh38: Chr21:42372709	TMPRSS3		not provided, Autosomal recessive nonsyndromic hearing loss 8	Conflicting interpretations of pathogenicity (Jun 16, 2020)	criteria provided, conflicting interpretations
Select item 89730132.	NM_001256317.3(TMPRSS3):c.*750C>A GRCh37: Chr21:43792121 GRCh38: Chr21:42372012	TMPRSS3		Autosomal recessive nonsyndromic hearing loss 8	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89730033.	NM_001256317.3(TMPRSS3):c.*755G>T GRCh37: Chr21:43792116 GRCh38: Chr21:42372007	TMPRSS3		Autosomal recessive nonsyndromic hearing loss 8	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89729934.	NM_001256317.3(TMPRSS3):c.*777G>T GRCh37: Chr21:43792094 GRCh38: Chr21:42371985	TMPRSS3		Autosomal recessive nonsyndromic hearing loss 8	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89729835.	NM_001256317.3(TMPRSS3):c.*782G>A GRCh37: Chr21:43792089 GRCh38: Chr21:42371980	TMPRSS3		Autosomal recessive nonsyndromic hearing loss 8	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89729736.	NM_001256317.3(TMPRSS3):c.*805T>C GRCh37: Chr21:43792066 GRCh38: Chr21:42371957	TMPRSS3		Autosomal recessive nonsyndromic hearing loss 8	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 89694937.	NM_001256317.3(TMPRSS3):c.450T>C (p.Tyr150=) GRCh37: Chr21:43805640 GRCh38: Chr21:42385531	TMPRSS3		Autosomal recessive nonsyndromic hearing loss 8	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89694838.	NM_001256317.3(TMPRSS3):c.573-8C>T GRCh37: Chr21:43804130 GRCh38: Chr21:42384021	TMPRSS3		not provided, Autosomal recessive nonsyndromic hearing loss 8	Conflicting interpretations of pathogenicity (Nov 25, 2021)	criteria provided, conflicting interpretations
Select item 89687839.	NM_001256317.3(TMPRSS3):c.*189T>C GRCh37: Chr21:43792682 GRCh38: Chr21:42372573	TMPRSS3		not provided, Autosomal recessive nonsyndromic hearing loss 8	Likely benign (Oct 7, 2019)	criteria provided, multiple submitters, no conflicts
Select item 89561940.	NM_001256317.3(TMPRSS3):c.-78T>A GRCh37: Chr21:43816077 GRCh38: Chr21:42395968	TMPRSS3		Autosomal recessive nonsyndromic hearing loss 8	Uncertain significance (Apr 28, 2017)	criteria provided, single submitter
Select item 89554841.	NM_001256317.3(TMPRSS3):c.856T>A (p.Leu286Met) GRCh37: Chr21:43802270 GRCh38: Chr21:42382161	TMPRSS3	L159M, L286M	not provided, Autosomal recessive nonsyndromic hearing loss 8	Uncertain significance (Aug 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 89554742.	NM_001256317.3(TMPRSS3):c.1004G>C (p.Gly335Ala) GRCh37: Chr21:43800270 GRCh38: Chr21:42380161	TMPRSS3	G208A, G335A	not provided, Autosomal recessive nonsyndromic hearing loss 8	Uncertain significance (Jan 31, 2023)	criteria provided, multiple submitters, no conflicts
Select item 89554643.	NM_001256317.3(TMPRSS3):c.1019C>T (p.Thr340Met) GRCh37: Chr21:43800255 GRCh38: Chr21:42380146	TMPRSS3	T213M, T340M	Autosomal recessive nonsyndromic hearing loss 8	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 89547644.	NM_001256317.3(TMPRSS3):c.*334G>A GRCh37: Chr21:43792537 GRCh38: Chr21:42372428	TMPRSS3		Autosomal recessive nonsyndromic hearing loss 8	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89547545.	NM_001256317.3(TMPRSS3):c.*411C>A GRCh37: Chr21:43792460 GRCh38: Chr21:42372351	TMPRSS3		Autosomal recessive nonsyndromic hearing loss 8	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89547446.	NM_001256317.3(TMPRSS3):c.*429C>A GRCh37: Chr21:43792442 GRCh38: Chr21:42372333	TMPRSS3		Autosomal recessive nonsyndromic hearing loss 8	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89547347.	NM_001256317.3(TMPRSS3):c.*476C>T GRCh37: Chr21:43792395 GRCh38: Chr21:42372286	TMPRSS3		Autosomal recessive nonsyndromic hearing loss 8	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87347448.	NM_001256317.3(TMPRSS3):c.1148T>A (p.Met383Lys) GRCh37: Chr21:43796693 GRCh38: Chr21:42376584	TMPRSS3	M383K, M384K, M257K	Autosomal recessive nonsyndromic hearing loss 8, not provided	Conflicting interpretations of pathogenicity (Feb 28, 2023)	criteria provided, conflicting interpretations
Select item 82812749.	NM_001256317.3(TMPRSS3):c.1192-1G>C GRCh37: Chr21:43795978 GRCh38: Chr21:42375869	TMPRSS3		Autosomal recessive nonsyndromic hearing loss 8	Pathogenic (Feb 5, 2020)	no assertion criteria provided
Select item 81090150.	NM_001256317.3(TMPRSS3):c.231C>T (p.Tyr77=) GRCh37: Chr21:43809129 GRCh38: Chr21:42389020	TMPRSS3		not provided, Autosomal recessive nonsyndromic hearing loss 8	Benign/Likely benign (Sep 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 73689751.	NM_001256317.3(TMPRSS3):c.1191+10C>T GRCh37: Chr21:43796640 GRCh38: Chr21:42376531	TMPRSS3		Autosomal recessive nonsyndromic hearing loss 8, not provided	Conflicting interpretations of pathogenicity (Jan 4, 2019)	criteria provided, conflicting interpretations
Select item 66698852.	NM_001256317.3(TMPRSS3):c.1303C>T (p.Arg435Cys) GRCh37: Chr21:43795866 GRCh38: Chr21:42375757	TMPRSS3	R435C, R309C, R436C	not provided, Autosomal recessive nonsyndromic hearing loss 8, Rare genetic deafness	Conflicting interpretations of pathogenicity (Oct 24, 2022)	criteria provided, conflicting interpretations
Select item 63238053.	NM_001256317.3(TMPRSS3):c.1235G>A (p.Trp412Ter) GRCh37: Chr21:43795934 GRCh38: Chr21:42375825	TMPRSS3	W413, W412, W286*	Autosomal recessive nonsyndromic hearing loss 8	Uncertain significance (Dec 8, 2018)	criteria provided, single submitter
Select item 62748254.	NM_001256317.3(TMPRSS3):c.1048+1G>A GRCh37: Chr21:43800225 GRCh38: Chr21:42380116	TMPRSS3		Autosomal recessive nonsyndromic hearing loss 8	Pathogenic (Feb 26, 2019)	no assertion criteria provided
Select item 59560155.	NM_001256317.3(TMPRSS3):c.1266C>T (p.Ile422=) GRCh37: Chr21:43795903 GRCh38: Chr21:42375794	TMPRSS3		not provided, Autosomal recessive nonsyndromic hearing loss 8	Conflicting interpretations of pathogenicity (Mar 24, 2022)	criteria provided, conflicting interpretations
Select item 56209456.	NM_001256317.3(TMPRSS3):c.783-1G>T GRCh37: Chr21:43802344 GRCh38: Chr21:42382235	TMPRSS3		Autosomal recessive nonsyndromic hearing loss 8, Hearing loss, autosomal recessive	Pathogenic/Likely pathogenic (Jul 5, 2018)	no assertion criteria provided
Select item 50452257.	NM_001256317.3(TMPRSS3):c.310G>A (p.Glu104Lys) GRCh37: Chr21:43809050 GRCh38: Chr21:42388941	TMPRSS3	E104K	Autosomal recessive nonsyndromic hearing loss 8, Rare genetic deafness	Pathogenic/Likely pathogenic (Nov 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 50157958.	NM_001256317.3(TMPRSS3):c.1126G>A (p.Gly376Ser) GRCh37: Chr21:43796715 GRCh38: Chr21:42376606	TMPRSS3	G377S, G376S, G250S	not provided, Autosomal recessive nonsyndromic hearing loss 8	Uncertain significance (May 1, 2020)	criteria provided, multiple submitters, no conflicts
Select item 44457659.	NM_001256317.3(TMPRSS3):c.496C>T (p.Arg166Trp) GRCh37: Chr21:43805594 GRCh38: Chr21:42385485	TMPRSS3	R166W, R39W	Autosomal recessive nonsyndromic hearing loss 8, not provided, Hearing impairment	Conflicting interpretations of pathogenicity (Apr 24, 2022)	criteria provided, conflicting interpretations
Select item 44033960.	NM_001256317.3(TMPRSS3):c.280G>A (p.Gly94Arg) GRCh37: Chr21:43809080 GRCh38: Chr21:42388971	TMPRSS3	G94R	Autosomal recessive nonsyndromic hearing loss 8, not provided, not specified	Uncertain significance (Apr 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 43200961.	NM_001256317.3(TMPRSS3):c.346G>A (p.Val116Met) GRCh37: Chr21:43808612 GRCh38: Chr21:42388503	TMPRSS3	V116M	not provided, Autosomal recessive nonsyndromic hearing loss 8	Pathogenic/Likely pathogenic (Aug 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 40228362.	NM_001256317.3(TMPRSS3):c.582T>A (p.Cys194Ter) GRCh37: Chr21:43804113 GRCh38: Chr21:42384004	TMPRSS3	C194, C67	Autosomal recessive nonsyndromic hearing loss 8	Pathogenic (Jun 4, 2016)	no assertion criteria provided
Select item 38171463.	NM_001256317.3(TMPRSS3):c.316C>T (p.Arg106Cys) GRCh37: Chr21:43809044 GRCh38: Chr21:42388935	TMPRSS3	R106C	not provided, Autosomal recessive nonsyndromic hearing loss 8, Hearing impairment	Pathogenic/Likely pathogenic (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 34006964.	NM_024022.2(TMPRSS3):c.-198G>A GRCh37: Chr21:43816197 GRCh38: Chr21:42396088	TMPRSS3		Autosomal recessive nonsyndromic hearing loss 8	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34006765.	NM_024022.2(TMPRSS3):c.-182G>A GRCh37: Chr21:43816181 GRCh38: Chr21:42396072	TMPRSS3		Autosomal recessive nonsyndromic hearing loss 8	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34006666.	NM_024022.2(TMPRSS3):c.-178A>C GRCh37: Chr21:43816177 GRCh38: Chr21:42396068	TMPRSS3		Autosomal recessive nonsyndromic hearing loss 8	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34006567.	NM_001256317.3(TMPRSS3):c.-131G>C GRCh37: Chr21:43816130 GRCh38: Chr21:42396021	TMPRSS3		not provided, Autosomal recessive nonsyndromic hearing loss 8	Conflicting interpretations of pathogenicity (Jan 1, 2023)	criteria provided, conflicting interpretations
Select item 34006468.	NM_001256317.3(TMPRSS3):c.-79A>G GRCh37: Chr21:43816078 GRCh38: Chr21:42395969	TMPRSS3		Autosomal recessive nonsyndromic hearing loss 8	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 34006369.	NM_001256317.3(TMPRSS3):c.-51-12T>C GRCh37: Chr21:43815589 GRCh38: Chr21:42395480	TMPRSS3		Autosomal recessive nonsyndromic hearing loss 8	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34006270.	NM_001256317.3(TMPRSS3):c.-36G>C GRCh37: Chr21:43815562 GRCh38: Chr21:42395453	TMPRSS3		Autosomal recessive nonsyndromic hearing loss 8, not provided	Conflicting interpretations of pathogenicity (May 14, 2019)	criteria provided, conflicting interpretations
Select item 34006171.	NM_001256317.3(TMPRSS3):c.17C>T (p.Pro6Leu) GRCh37: Chr21:43815510 GRCh38: Chr21:42395401	TMPRSS3	P6L	Autosomal recessive nonsyndromic hearing loss 8	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34006072.	NM_001256317.3(TMPRSS3):c.681G>A (p.Gln227=) GRCh37: Chr21:43803243 GRCh38: Chr21:42383134	TMPRSS3		not provided, Autosomal recessive nonsyndromic hearing loss 8	Conflicting interpretations of pathogenicity (May 3, 2022)	criteria provided, conflicting interpretations
Select item 34005973.	NM_001256317.3(TMPRSS3):c.715T>C (p.Tyr239His) GRCh37: Chr21:43803209 GRCh38: Chr21:42383100	TMPRSS3	Y239H, Y112H	not provided, Autosomal recessive nonsyndromic hearing loss 8	Conflicting interpretations of pathogenicity (Jul 20, 2022)	criteria provided, conflicting interpretations
Select item 34005774.	NM_001256317.3(TMPRSS3):c.*81C>T GRCh37: Chr21:43792790 GRCh38: Chr21:42372681	TMPRSS3		Autosomal recessive nonsyndromic hearing loss 8	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34005675.	NM_001256317.3(TMPRSS3):c.*177A>C GRCh37: Chr21:43792694 GRCh38: Chr21:42372585	TMPRSS3		Autosomal recessive nonsyndromic hearing loss 8	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34005576.	NM_001256317.3(TMPRSS3):c.*191T>C GRCh37: Chr21:43792680 GRCh38: Chr21:42372571	TMPRSS3		Autosomal recessive nonsyndromic hearing loss 8, not provided	Likely benign (Sep 30, 2019)	criteria provided, multiple submitters, no conflicts
Select item 34005477.	NM_001256317.3(TMPRSS3):c.*206A>G GRCh37: Chr21:43792665 GRCh38: Chr21:42372556	TMPRSS3		Autosomal recessive nonsyndromic hearing loss 8, not provided	Benign (Aug 10, 2019)	criteria provided, multiple submitters, no conflicts
Select item 34005378.	NM_001256317.3(TMPRSS3):c.*245C>T GRCh37: Chr21:43792626 GRCh38: Chr21:42372517	TMPRSS3		Autosomal recessive nonsyndromic hearing loss 8	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34005279.	NM_001256317.3(TMPRSS3):c.*246G>A GRCh37: Chr21:43792625 GRCh38: Chr21:42372516	TMPRSS3		Autosomal recessive nonsyndromic hearing loss 8, not provided	Benign/Likely benign (Nov 12, 2018)	criteria provided, multiple submitters, no conflicts
Select item 34005180.	NM_001256317.3(TMPRSS3):c.*287C>T GRCh37: Chr21:43792584 GRCh38: Chr21:42372475	TMPRSS3		Autosomal recessive nonsyndromic hearing loss 8	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34005081.	NM_001256317.3(TMPRSS3):c.*397C>A GRCh37: Chr21:43792474 GRCh38: Chr21:42372365	TMPRSS3		Autosomal recessive nonsyndromic hearing loss 8	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 34004982.	NM_001256317.3(TMPRSS3):c.*402C>T GRCh37: Chr21:43792469 GRCh38: Chr21:42372360	TMPRSS3		Autosomal recessive nonsyndromic hearing loss 8	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34004883.	NM_001256317.3(TMPRSS3):c.*407A>T GRCh37: Chr21:43792464 GRCh38: Chr21:42372355	TMPRSS3		Autosomal recessive nonsyndromic hearing loss 8	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34004784.	NM_001256317.3(TMPRSS3):c.*409C>T GRCh37: Chr21:43792462 GRCh38: Chr21:42372353	TMPRSS3		Autosomal recessive nonsyndromic hearing loss 8	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 34004685.	NM_001256317.3(TMPRSS3):c.*477G>A GRCh37: Chr21:43792394 GRCh38: Chr21:42372285	TMPRSS3		Autosomal recessive nonsyndromic hearing loss 8	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 34004586.	NM_001256317.3(TMPRSS3):c.*539C>T GRCh37: Chr21:43792332 GRCh38: Chr21:42372223	TMPRSS3		Autosomal recessive nonsyndromic hearing loss 8	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 34004487.	NM_001256317.3(TMPRSS3):c.*540G>A GRCh37: Chr21:43792331 GRCh38: Chr21:42372222	TMPRSS3		Autosomal recessive nonsyndromic hearing loss 8	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 34004388.	NM_001256317.3(TMPRSS3):c.*576G>A GRCh37: Chr21:43792295 GRCh38: Chr21:42372186	TMPRSS3		Autosomal recessive nonsyndromic hearing loss 8	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34004189.	NM_001256317.3(TMPRSS3):c.*692G>A GRCh37: Chr21:43792179 GRCh38: Chr21:42372070	TMPRSS3		Autosomal recessive nonsyndromic hearing loss 8	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 34004090.	NM_001256317.3(TMPRSS3):c.*815A>G GRCh37: Chr21:43792056 GRCh38: Chr21:42371947	TMPRSS3		Autosomal recessive nonsyndromic hearing loss 8, not provided	Conflicting interpretations of pathogenicity (Aug 1, 2022)	criteria provided, conflicting interpretations
Select item 22932491.	NM_001256317.3(TMPRSS3):c.1169C>T (p.Thr390Met) GRCh37: Chr21:43796672 GRCh38: Chr21:42376563	TMPRSS3	T391M, T264M, T390M	not specified, Autosomal recessive nonsyndromic hearing loss 8, not provided	Uncertain significance (Jul 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 22549592.	NM_001256317.3(TMPRSS3):c.212T>C (p.Phe71Ser) GRCh37: Chr21:43809148 GRCh38: Chr21:42389039	TMPRSS3	F71S	Autosomal recessive nonsyndromic hearing loss 8, not provided, not specified	Conflicting interpretations of pathogenicity (May 6, 2021)	criteria provided, conflicting interpretations
Select item 19785793.	NM_001256317.3(TMPRSS3):c.326G>A (p.Arg109Gln) GRCh37: Chr21:43808632 GRCh38: Chr21:42388523	TMPRSS3	R109Q	not provided, Autosomal recessive nonsyndromic hearing loss 8	Conflicting interpretations of pathogenicity (Oct 17, 2022)	criteria provided, conflicting interpretations
Select item 17985594.	NM_001256317.3(TMPRSS3):c.239G>A (p.Arg80His) GRCh37: Chr21:43809121 GRCh38: Chr21:42389012	TMPRSS3	R80H	not specified, not provided, Autosomal recessive nonsyndromic hearing loss 8	Conflicting interpretations of pathogenicity (Aug 16, 2022)	criteria provided, conflicting interpretations
Select item 17868395.	NM_001256317.3(TMPRSS3):c.789C>T (p.Tyr263=) GRCh37: Chr21:43802337 GRCh38: Chr21:42382228	TMPRSS3		not specified, not provided, Autosomal recessive nonsyndromic hearing loss 8	Conflicting interpretations of pathogenicity (Jun 10, 2022)	criteria provided, conflicting interpretations
Select item 17854996.	NM_001256317.3(TMPRSS3):c.727G>A (p.Gly243Arg) GRCh37: Chr21:43803197 GRCh38: Chr21:42383088	TMPRSS3	G243R, G116R	Rare genetic deafness, not provided, Autosomal recessive nonsyndromic hearing loss 8	Likely pathogenic (Sep 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 17854797.	NM_001256317.3(TMPRSS3):c.1332C>T (p.His444=) GRCh37: Chr21:43795837 GRCh38: Chr21:42375728	TMPRSS3		not specified, not provided, Autosomal recessive nonsyndromic hearing loss 8	Conflicting interpretations of pathogenicity (Sep 5, 2022)	criteria provided, conflicting interpretations
Select item 17798198.	NM_001256317.3(TMPRSS3):c.497G>T (p.Arg166Leu) GRCh37: Chr21:43805593 GRCh38: Chr21:42385484	TMPRSS3	R166L, R39L	not specified, not provided, Autosomal recessive nonsyndromic hearing loss 8	Conflicting interpretations of pathogenicity (Oct 9, 2022)	criteria provided, conflicting interpretations
Select item 16549299.	NM_001256317.3(TMPRSS3):c.208del (p.His70fs) GRCh37: Chr21:43809152 GRCh38: Chr21:42389043	TMPRSS3	H70fs	Rare genetic deafness, Inborn genetic diseases, not provided, Autosomal recessive nonsyndromic hearing loss 8, Hearing impairment	Pathogenic/Likely pathogenic (Nov 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 165482100.	NM_001256317.3(TMPRSS3):c.1149G>T (p.Met383Ile) GRCh37: Chr21:43796692 GRCh38: Chr21:42376583	TMPRSS3	M384I, M257I, M383I	not specified	Uncertain significance (May 15, 2013)	criteria provided, single submitter

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