ClinVar for MedGen (Select 409872) - ClinVar

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Items: 90

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24335341.	NM_001393500.2(TOMT):c.80T>C (p.Leu27Pro) GRCh37: Chr11:71817077 GRCh38: Chr11:72106031	LRTOMT, TOMT	L27P, L60P	Autosomal recessive nonsyndromic hearing loss 63	Uncertain significance (May 13, 2021)	criteria provided, single submitter
Select item 18049502.	NM_001393500.2(TOMT):c.100C>T (p.Arg34Ter) GRCh37: Chr11:71817097 GRCh38: Chr11:72106051	TOMT, LRTOMT	R34, R67	Autosomal recessive nonsyndromic hearing loss 63	Pathogenic (May 6, 2021)	criteria provided, single submitter
Select item 17055153.	NM_001393500.2(TOMT):c.467del (p.Ile156fs) GRCh37: Chr11:71819661 GRCh38: Chr11:72108615	ANAPC15, LRTOMT, TOMT	I149fs, I156fs, I189fs	Autosomal recessive nonsyndromic hearing loss 63	Likely pathogenic (Sep 1, 2022)	criteria provided, single submitter
Select item 16991724.	NM_145309.6(LRRC51):c.330del (p.His110fs) GRCh37: Chr11:71806035 GRCh38: Chr11:72094989	LRRC51, LRTOMT	H110fs, H92fs	Autosomal recessive nonsyndromic hearing loss 63	Uncertain significance (May 25, 2020)	criteria provided, single submitter
Select item 16876025.	NM_145309.6(LRRC51):c.340_346del (p.Ile114fs) GRCh37: Chr11:71806041-71806047 GRCh38: Chr11:72094995-72095001	LRRC51, LRTOMT	I114fs, I96fs	Autosomal recessive nonsyndromic hearing loss 63	Pathogenic (May 22, 2022)	criteria provided, single submitter
Select item 13336946.	NM_001393500.2(TOMT):c.62G>A (p.Arg21Gln) GRCh37: Chr11:71817059 GRCh38: Chr11:72106013	LRTOMT, TOMT	R21Q, R54Q	not provided, Autosomal recessive nonsyndromic hearing loss 63	Uncertain significance (Jan 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13336597.	NM_001393500.2(TOMT):c.55C>T (p.Arg19Trp) GRCh37: Chr11:71817052 GRCh38: Chr11:72106006	LRTOMT, TOMT	R19W, R52W	Autosomal recessive nonsyndromic hearing loss 63	Uncertain significance (Jan 3, 2022)	criteria provided, single submitter
Select item 12983688.	NM_001393500.2(TOMT):c.400C>T (p.Arg134Cys) GRCh37: Chr11:71819109 GRCh38: Chr11:72108063	ANAPC15, LRTOMT, TOMT	R127C, R134C, R167C	not provided, Autosomal recessive nonsyndromic hearing loss 63	Uncertain significance (Sep 8, 2021)	criteria provided, multiple submitters, no conflicts
Select item 8837729.	NM_014042.3(ANAPC15):c.256A>T (p.Met86Leu) GRCh37: Chr11:71821196 GRCh38: Chr11:72110150	ANAPC15, LRTOMT	M86L, M1L, M98L	Autosomal recessive nonsyndromic hearing loss 63	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88371910.	NM_001393500.2(TOMT):c.655C>T (p.Arg219Cys) GRCh37: Chr11:71819849 GRCh38: Chr11:72108803	ANAPC15, LRTOMT, TOMT	R212C, R252C, R219C	Autosomal recessive nonsyndromic hearing loss 63	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88371811.	NM_001393500.2(TOMT):c.551G>A (p.Arg184Gln) GRCh37: Chr11:71819745 GRCh38: Chr11:72108699	ANAPC15, LRTOMT, TOMT	R217Q, R177Q, R184Q	Inborn genetic diseases, not provided, Autosomal recessive nonsyndromic hearing loss 63	Uncertain significance (Aug 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 88366812.	NM_001145308.4(LRTOMT):c.-422T>C GRCh37: Chr11:71791831 GRCh38: Chr11:72080785	LRTOMT		Autosomal recessive nonsyndromic hearing loss 63	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88366713.	NM_001145308.4(LRTOMT):c.-453A>G GRCh37: Chr11:71791800 GRCh38: Chr11:72080754	LRTOMT		Autosomal recessive nonsyndromic hearing loss 63	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88297714.	NM_014042.3(ANAPC15):c.*96C>T GRCh37: Chr11:71820831 GRCh38: Chr11:72109785	ANAPC15, LRTOMT		Autosomal recessive nonsyndromic hearing loss 63	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 88297615.	NM_014042.3(ANAPC15):c.*105C>T GRCh37: Chr11:71820822 GRCh38: Chr11:72109776	ANAPC15, LRTOMT		Autosomal recessive nonsyndromic hearing loss 63	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88297516.	NM_001393500.2(TOMT):c.*638C>T GRCh37: Chr11:71820609 GRCh38: Chr11:72109563	ANAPC15, LRTOMT, TOMT		Autosomal recessive nonsyndromic hearing loss 63	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88297417.	NM_001393500.2(TOMT):c.*580C>T GRCh37: Chr11:71820551 GRCh38: Chr11:72109505	ANAPC15, LRTOMT, TOMT		Autosomal recessive nonsyndromic hearing loss 63	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88292318.	NM_001393500.2(TOMT):c.361C>G (p.Pro121Ala) GRCh37: Chr11:71819070 GRCh38: Chr11:72108024	ANAPC15, LRTOMT, TOMT	P114A, P154A, P121A	Autosomal recessive nonsyndromic hearing loss 63	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88292219.	NM_001393500.2(TOMT):c.274C>T (p.Arg92Trp) GRCh37: Chr11:71818983 GRCh38: Chr11:72107937	ANAPC15, LRTOMT, TOMT	R125W, R85W, R92W	Autosomal recessive nonsyndromic hearing loss 63	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88287820.	NM_006185.4(NUMA1):c.-149G>C GRCh37: Chr11:71791550 GRCh38: Chr11:72080504	LRTOMT, NUMA1		Autosomal recessive nonsyndromic hearing loss 63	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 88182421.	NM_001393500.2(TOMT):c.*400C>A GRCh37: Chr11:71820371 GRCh38: Chr11:72109325	ANAPC15, LRTOMT, TOMT		Autosomal recessive nonsyndromic hearing loss 63	Uncertain significance (Jan 15, 2018)	criteria provided, single submitter
Select item 88177022.	NM_001145308.5(LRTOMT):c.327C>T (p.Cys109=) GRCh37: Chr11:71817225 GRCh38: Chr11:72106179	LRTOMT, TOMT		Autosomal recessive nonsyndromic hearing loss 63	Conflicting interpretations of pathogenicity (Aug 1, 2020)	criteria provided, conflicting interpretations
Select item 88172323.	NM_006185.4(NUMA1):c.-127A>C GRCh37: Chr11:71791528 GRCh38: Chr11:72080482	LRTOMT, NUMA1		Autosomal recessive nonsyndromic hearing loss 63	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88172224.	NM_006185.4(NUMA1):c.-103+12G>A GRCh37: Chr11:71791492 GRCh38: Chr11:72080446	LRTOMT, NUMA1		Autosomal recessive nonsyndromic hearing loss 63	Uncertain significance (Jan 15, 2018)	criteria provided, single submitter
Select item 88172125.	NM_006185.4(NUMA1):c.-103+136G>A GRCh37: Chr11:71791368 GRCh38: Chr11:72080322	LRTOMT, NUMA1		Autosomal recessive nonsyndromic hearing loss 63	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88143526.	NM_014042.3(ANAPC15):c.180+11C>G GRCh37: Chr11:71821579 GRCh38: Chr11:72110533	LRTOMT, ANAPC15		Autosomal recessive nonsyndromic hearing loss 63	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88143427.	NM_014042.3(ANAPC15):c.180+75T>C GRCh37: Chr11:71821515 GRCh38: Chr11:72110469	ANAPC15, LRTOMT		Autosomal recessive nonsyndromic hearing loss 63	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88143328.	NM_014042.3(ANAPC15):c.180+131A>C GRCh37: Chr11:71821459 GRCh38: Chr11:72110413	ANAPC15, LRTOMT		Autosomal recessive nonsyndromic hearing loss 63	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88137929.	NM_001393500.2(TOMT):c.*244C>A GRCh37: Chr11:71820215 GRCh38: Chr11:72109169	ANAPC15, LRTOMT, TOMT		Autosomal recessive nonsyndromic hearing loss 63	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88137830.	NM_001393500.2(TOMT):c.*205C>T GRCh37: Chr11:71820176 GRCh38: Chr11:72109130	ANAPC15, LRTOMT, TOMT		Autosomal recessive nonsyndromic hearing loss 63	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88132731.	NM_145309.6(LRTOMT):c.230A>G (p.His77Arg) GRCh37: Chr11:71804689 GRCh38: Chr11:72093643	LRRC51, LRTOMT	H77R, H59R	Autosomal recessive nonsyndromic hearing loss 63	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 63217432.	NM_001393500.2(TOMT):c.73C>T (p.Arg25Ter) GRCh37: Chr11:71817070 GRCh38: Chr11:72106024	LRTOMT, TOMT	R58, R25	Autosomal recessive nonsyndromic hearing loss 63	Conflicting interpretations of pathogenicity (Dec 23, 2021)	criteria provided, conflicting interpretations
Select item 63217333.	NM_145309.6(LRRC51):c.-140+1G>T GRCh37: Chr11:71791932 GRCh38: Chr11:72080886	LRRC51, LRTOMT		Autosomal recessive nonsyndromic hearing loss 63	Uncertain significance (Jan 1, 2019)	criteria provided, single submitter
Select item 62745034.	NM_001393500.2(TOMT):c.285_286insCTCG (p.Glu96fs) GRCh37: Chr11:71818993-71818994 GRCh38: Chr11:72107947-72107948	ANAPC15, LRTOMT, TOMT	E129fs, E89fs, E96fs	Autosomal recessive nonsyndromic hearing loss 63	Likely pathogenic (Feb 26, 2019)	no assertion criteria provided
Select item 58763835.	NM_001393500.2(TOMT):c.439G>A (p.Gly147Ser) GRCh37: Chr11:71819148 GRCh38: Chr11:72108102	TOMT, ANAPC15, LRTOMT	G180S, G140S, G147S	Autosomal recessive nonsyndromic hearing loss 63	Uncertain significance (Aug 7, 2018)	criteria provided, single submitter
Select item 43072336.	Multiple alleles			Autosomal recessive nonsyndromic hearing loss 63	Likely pathogenic (Aug 31, 2016)	no assertion criteria provided
Select item 30602137.	NM_014042.3(ANAPC15):c.121-132T>A GRCh37: Chr11:71821781 GRCh38: Chr11:72110735	ANAPC15, LRTOMT		Autosomal recessive nonsyndromic hearing loss 63	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30602038.	NM_014042.3(ANAPC15):c.121-110G>C GRCh37: Chr11:71821759 GRCh38: Chr11:72110713	ANAPC15, LRTOMT		Autosomal recessive nonsyndromic hearing loss 63	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30601939.	NM_014042.3(ANAPC15):c.121-95G>A GRCh37: Chr11:71821744 GRCh38: Chr11:72110698	ANAPC15, LRTOMT		Autosomal recessive nonsyndromic hearing loss 63	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 30601640.	NM_014042.3(ANAPC15):c.181-63G>T GRCh37: Chr11:71821334 GRCh38: Chr11:72110288	ANAPC15, LRTOMT		Autosomal recessive nonsyndromic hearing loss 63	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30601441.	NM_014042.3(ANAPC15):c.296C>T (p.Pro99Leu) GRCh37: Chr11:71821156 GRCh38: Chr11:72110110	ANAPC15, LRTOMT	P99L, P111L, P14L	Autosomal recessive nonsyndromic hearing loss 63	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30601342.	NM_014042.3(ANAPC15):c.318+3A>G GRCh37: Chr11:71821131 GRCh38: Chr11:72110085	ANAPC15, LRTOMT		Autosomal recessive nonsyndromic hearing loss 63	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 30601243.	NM_014042.3(ANAPC15):c.318+47C>T GRCh37: Chr11:71821087 GRCh38: Chr11:72110041	ANAPC15, LRTOMT		Autosomal recessive nonsyndromic hearing loss 63	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 30601144.	NM_014042.3(ANAPC15):c.*79A>G GRCh37: Chr11:71820848 GRCh38: Chr11:72109802	ANAPC15, LRTOMT		Autosomal recessive nonsyndromic hearing loss 63	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 30601045.	NM_001393500.2(TOMT):c.*622C>T GRCh37: Chr11:71820593 GRCh38: Chr11:72109547	ANAPC15, LRTOMT, TOMT		Autosomal recessive nonsyndromic hearing loss 63	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30600946.	NM_001393500.2(TOMT):c.*601A>C GRCh37: Chr11:71820572 GRCh38: Chr11:72109526	ANAPC15, LRTOMT, TOMT		Autosomal recessive nonsyndromic hearing loss 63	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30600847.	NM_001393500.2(TOMT):c.*437T>C GRCh37: Chr11:71820408 GRCh38: Chr11:72109362	ANAPC15, LRTOMT, TOMT		Autosomal recessive nonsyndromic hearing loss 63	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30600648.	NM_001393500.2(TOMT):c.*336C>T GRCh37: Chr11:71820307 GRCh38: Chr11:72109261	ANAPC15, LRTOMT, TOMT		Autosomal recessive nonsyndromic hearing loss 63	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30600349.	NM_001393500.2(TOMT):c.773G>A (p.Gly258Asp) GRCh37: Chr11:71819967 GRCh38: Chr11:72108921	ANAPC15, LRTOMT, TOMT	G291D, G251D, G258D	Autosomal recessive nonsyndromic hearing loss 63	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30600250.	NM_001393500.2(TOMT):c.761A>G (p.Tyr254Cys) GRCh37: Chr11:71819955 GRCh38: Chr11:72108909	ANAPC15, LRTOMT, TOMT	Y287C, Y247C, Y254C	Autosomal recessive nonsyndromic hearing loss 63	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 30600151.	NM_001393500.2(TOMT):c.698G>A (p.Arg233His) GRCh37: Chr11:71819892 GRCh38: Chr11:72108846	ANAPC15, LRTOMT, TOMT	R266H, R226H, R233H	Autosomal recessive nonsyndromic hearing loss 63	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30600052.	NM_001393500.2(TOMT):c.685C>T (p.Arg229Cys) GRCh37: Chr11:71819879 GRCh38: Chr11:72108833	ANAPC15, LRTOMT, TOMT	R262C, R222C, G121S, R229C	Autosomal recessive nonsyndromic hearing loss 63	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30599953.	NM_001393500.2(TOMT):c.681T>G (p.Cys227Trp) GRCh37: Chr11:71819875 GRCh38: Chr11:72108829	ANAPC15, LRTOMT, TOMT	C260W, C220W, C227W, H122P	not specified, Inborn genetic diseases, not provided, Autosomal recessive nonsyndromic hearing loss 63	Uncertain significance (Jun 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 30599854.	NM_001393500.2(TOMT):c.550C>T (p.Arg184Trp) GRCh37: Chr11:71819744 GRCh38: Chr11:72108698	ANAPC15, LRTOMT, TOMT	R217W, R177W, R184W	Inborn genetic diseases, not provided, Autosomal recessive nonsyndromic hearing loss 63	Uncertain significance (Nov 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 30599755.	NM_001393500.2(TOMT):c.493C>T (p.Pro165Ser) GRCh37: Chr11:71819687 GRCh38: Chr11:72108641	ANAPC15, LRTOMT, TOMT	P198S, P158S, P165S	Autosomal recessive nonsyndromic hearing loss 63	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30599656.	NM_001393500.2(TOMT):c.486C>T (p.Asp162=) GRCh37: Chr11:71819680 GRCh38: Chr11:72108634	ANAPC15, LRTOMT, TOMT		not provided, Autosomal recessive nonsyndromic hearing loss 63	Conflicting interpretations of pathogenicity (Sep 27, 2022)	criteria provided, conflicting interpretations
Select item 30599557.	NM_001393500.2(TOMT):c.469G>A (p.Val157Met) GRCh37: Chr11:71819663 GRCh38: Chr11:72108617	ANAPC15, LRTOMT, TOMT	V190M, V150M, V157M	Autosomal recessive nonsyndromic hearing loss 63	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 30599458.	NM_001393500.2(TOMT):c.404C>T (p.Thr135Met) GRCh37: Chr11:71819113 GRCh38: Chr11:72108067	ANAPC15, LRTOMT, TOMT	T168M, T128M, T135M	not provided, Autosomal recessive nonsyndromic hearing loss 63	Conflicting interpretations of pathogenicity (May 14, 2022)	criteria provided, conflicting interpretations
Select item 30599359.	NM_001393500.2(TOMT):c.360G>A (p.Leu120=) GRCh37: Chr11:71819069 GRCh38: Chr11:72108023	ANAPC15, LRTOMT, TOMT		Autosomal recessive nonsyndromic hearing loss 63	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30599260.	NM_001393500.2(TOMT):c.177C>T (p.Pro59=) GRCh37: Chr11:71817174 GRCh38: Chr11:72106128	LRTOMT, TOMT		Autosomal recessive nonsyndromic hearing loss 63	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30599161.	NM_001393500.2(TOMT):c.110G>A (p.Arg37Gln) GRCh37: Chr11:71817107 GRCh38: Chr11:72106061	LRTOMT, TOMT	R70Q, R30Q, R37Q	not provided, not specified, Autosomal recessive nonsyndromic hearing loss 63	Conflicting interpretations of pathogenicity (Nov 5, 2021)	criteria provided, conflicting interpretations
Select item 30599062.	NM_001393500.2(TOMT):c.90G>A (p.Thr30=) GRCh37: Chr11:71817087 GRCh38: Chr11:72106041	LRTOMT, TOMT		not provided, Autosomal recessive nonsyndromic hearing loss 63	Uncertain significance (Aug 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 30598863.	NM_145309.6(LRRC51):c.347G>A (p.Arg116His) GRCh37: Chr11:71806052 GRCh38: Chr11:72095006	LRRC51, LRTOMT	R116H, R98H	Autosomal recessive nonsyndromic hearing loss 63	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30598764.	NM_145309.6(LRRC51):c.281T>C (p.Ile94Thr) GRCh37: Chr11:71804740 GRCh38: Chr11:72093694	LRRC51, LRTOMT	I94T, I76T	Autosomal recessive nonsyndromic hearing loss 63	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 30598665.	NM_145309.6(LRRC51):c.255C>T (p.Asp85=) GRCh37: Chr11:71804714 GRCh38: Chr11:72093668	LRRC51, LRTOMT		not provided, not specified, Autosomal recessive nonsyndromic hearing loss 63	Conflicting interpretations of pathogenicity (Mar 1, 2023)	criteria provided, conflicting interpretations
Select item 30598566.	NM_145309.6(LRRC51):c.150G>T (p.Leu50=) GRCh37: Chr11:71804609 GRCh38: Chr11:72093563	LRRC51, LRTOMT		Autosomal recessive nonsyndromic hearing loss 63	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 30598367.	NM_145309.6(LRRC51):c.99G>A (p.Glu33=) GRCh37: Chr11:71804558 GRCh38: Chr11:72093512	LRTOMT, LRRC51		Autosomal recessive nonsyndromic hearing loss 63	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 30598268.	NM_145309.6(LRRC51):c.-140+5G>A GRCh37: Chr11:71791936 GRCh38: Chr11:72080890	LRTOMT, LRRC51		Autosomal recessive nonsyndromic hearing loss 63	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 30598169.	NM_145309.6(LRRC51):c.-162G>A GRCh37: Chr11:71791909 GRCh38: Chr11:72080863	LRRC51, LRTOMT		Autosomal recessive nonsyndromic hearing loss 63	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30598070.	NM_001145308.4(LRTOMT):c.-379T>C GRCh37: Chr11:71791874 GRCh38: Chr11:72080828	LRTOMT		Autosomal recessive nonsyndromic hearing loss 63	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30597971.	NM_001145308.4(LRTOMT):c.-409G>A GRCh37: Chr11:71791844 GRCh38: Chr11:72080798	LRTOMT		Autosomal recessive nonsyndromic hearing loss 63	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30597872.	NM_001145308.4(LRTOMT):c.-481G>T GRCh37: Chr11:71791772 GRCh38: Chr11:72080726	LRTOMT		Autosomal recessive nonsyndromic hearing loss 63	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30597673.	NM_001145308.4(LRTOMT):c.-554G>A GRCh37: Chr11:71791699 GRCh38: Chr11:72080653	LRTOMT		Autosomal recessive nonsyndromic hearing loss 63	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30597474.	NM_006185.4(NUMA1):c.-147T>C GRCh37: Chr11:71791548 GRCh38: Chr11:72080502	LRTOMT, NUMA1		Autosomal recessive nonsyndromic hearing loss 63	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 30597375.	NM_006185.4(NUMA1):c.-109C>T GRCh37: Chr11:71791510 GRCh38: Chr11:72080464	LRTOMT, NUMA1		Autosomal recessive nonsyndromic hearing loss 63	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 30597276.	NM_006185.4(NUMA1):c.-103+13G>T GRCh37: Chr11:71791491 GRCh38: Chr11:72080445	LRTOMT, NUMA1		Autosomal recessive nonsyndromic hearing loss 63	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 30597177.	NM_006185.4(NUMA1):c.-103+67G>A GRCh37: Chr11:71791437 GRCh38: Chr11:72080391	LRTOMT, NUMA1		Autosomal recessive nonsyndromic hearing loss 63	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 22884278.	NM_001393500.2(TOMT):c.703C>T (p.His235Tyr) GRCh37: Chr11:71819897 GRCh38: Chr11:72108851	LRTOMT, TOMT, ANAPC15	H268Y, H228Y, G115R, H235Y	not specified, not provided, Autosomal recessive nonsyndromic hearing loss 63	Uncertain significance (Oct 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 22884079.	NM_001393500.2(TOMT):c.97C>G (p.Leu33Val) GRCh37: Chr11:71817094 GRCh38: Chr11:72106048	LRTOMT, TOMT	L66V, L33V	not specified, Autosomal recessive nonsyndromic hearing loss 63	Uncertain significance (Jan 12, 2018)	criteria provided, multiple submitters, no conflicts
Select item 22753580.	NM_001393500.2(TOMT):c.298G>C (p.Ala100Pro) GRCh37: Chr11:71819007 GRCh38: Chr11:72107961	TOMT, LRTOMT, ANAPC15	A133P, A93P, A100P	Autosomal recessive nonsyndromic hearing loss 63, not specified, not provided	Conflicting interpretations of pathogenicity (Oct 1, 2022)	criteria provided, conflicting interpretations
Select item 22671881.	NM_145309.6(LRRC51):c.352G>C (p.Gly118Arg) GRCh37: Chr11:71806057 GRCh38: Chr11:72095011	LRRC51, LRTOMT	G118R, G100R	not specified, Autosomal recessive nonsyndromic hearing loss 63, not provided	Conflicting interpretations of pathogenicity (Jan 8, 2020)	criteria provided, conflicting interpretations
Select item 20871782.	NM_001393500.2(TOMT):c.515_518dup (p.Ser174fs) GRCh37: Chr11:71819708-71819709 GRCh38: Chr11:72108662-72108663	ANAPC15, LRTOMT, TOMT	S167fs, S207fs, S174fs	Inborn genetic diseases, Autosomal recessive nonsyndromic hearing loss 63	Pathogenic (Jul 18, 2019)	criteria provided, multiple submitters, no conflicts
Select item 17979283.	NM_001393500.2(TOMT):c.259+4A>C GRCh37: Chr11:71817260 GRCh38: Chr11:72106214	LRTOMT, TOMT		Rare genetic deafness	Likely pathogenic (Jul 1, 2014)	criteria provided, single submitter
Select item 4404084.	NM_001393500.2(TOMT):c.524G>A (p.Arg175Gln) GRCh37: Chr11:71819718 GRCh38: Chr11:72108672	ANAPC15, LRTOMT, TOMT	R208Q, R168Q, R175Q	not provided, not specified, Autosomal recessive nonsyndromic hearing loss 63	Benign (Feb 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 4403985.	NM_001393500.2(TOMT):c.253G>A (p.Val85Ile) GRCh37: Chr11:71817250 GRCh38: Chr11:72106204	LRTOMT, TOMT	V118I, V78I, V85I	not provided, not specified, Autosomal recessive nonsyndromic hearing loss 63	Conflicting interpretations of pathogenicity (Oct 23, 2022)	criteria provided, conflicting interpretations
Select item 4403886.	NM_001393500.2(TOMT):c.123A>G (p.Ser41=) GRCh37: Chr11:71817120 GRCh38: Chr11:72106074	LRTOMT, TOMT		not specified, not provided, Autosomal recessive nonsyndromic hearing loss 63	Conflicting interpretations of pathogenicity (Dec 15, 2021)	criteria provided, conflicting interpretations
Select item 54687.	NM_001393500.2(TOMT):c.234C>G (p.Tyr78Ter) GRCh37: Chr11:71817231 GRCh38: Chr11:72106185	LRTOMT, TOMT	Y71, Y111, Y78*	Autosomal recessive nonsyndromic hearing loss 63	Pathogenic (Sep 23, 2008)	no assertion criteria provided
Select item 54588.	NM_001393500.2(TOMT):c.229G>A (p.Glu77Lys) GRCh37: Chr11:71817226 GRCh38: Chr11:72106180	LRTOMT, TOMT	E110K, E70K, E77K	Autosomal recessive nonsyndromic hearing loss 63	Pathogenic (Nov 1, 2008)	no assertion criteria provided
Select item 54489.	NM_001393500.2(TOMT):c.214T>C (p.Trp72Arg) GRCh37: Chr11:71817211 GRCh38: Chr11:72106165	LRTOMT, TOMT	W105R, W65R, W72R	Autosomal recessive nonsyndromic hearing loss 63	Pathogenic (Nov 1, 2008)	no assertion criteria provided
Select item 54390.	NM_001393500.2(TOMT):c.143G>A (p.Arg48Gln) GRCh37: Chr11:71817140 GRCh38: Chr11:72106094	LRTOMT, TOMT	R81Q, R41Q, R48Q	Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 63	Pathogenic (Jul 29, 2022)	criteria provided, multiple submitters, no conflicts

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Items: 90