220074[geneid] - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 581641.	GRCh38/hg38 11q13.4(chr11:71164008-72309374)x3 GRCh37: Chr11:71088949-72020418 GRCh38: Chr11:71164008-72309374	ACTE1P, ANAPC15, CLPB, DEFB108B, DEFB131B, DHCR7, FAM86C1P, FOLR1, FOLR2, FOLR3, IL18BP, INPPL1, KRTAP5-10, KRTAP5-11, KRTAP5-7, KRTAP5-8, KRTAP5-9, LAMTOR1, LOC100128494, LOC111718492, LOC112136082, LOC121832798, LOC124500683, LOC126861256, LOC126861257, LOC126861258, LRRC51, LRTOMT, MIR3165, MIR6754, NADSYN1, NUMA1, PHOX2A, RNF121, SHANK2, TOMT, XNDC1N, XNDC1N-ZNF705EP-ALG1L9P, ZNF705E		See cases	Uncertain significance (Aug 12, 2011)	criteria provided, single submitter
Select item 589162.	GRCh38/hg38 11q13.4-13.5(chr11:71928796-77064521)x1 GRCh37: Chr11:71639842-76751808 GRCh38: Chr11:71928796-77064521	ACER3, ANAPC15, ARAP1, ARAP1-AS2, ARHGEF17, ARHGEF17-AS1, ARRB1, ATG16L2, B3GNT6, C2CD3, CHRDL2, CLPB, COA4, DGAT2, DGAT2-DT, DNAJB13, EMSY, EMSY-DT, FAM168A, FCHSD2, FOLR1, FOLR2, FOLR3, GDPD5, GVQW3, IL18BP, INPPL1, KCNE3, KLHL35, LAMTOR1, LINC01537, LINC02757, LIPT2, LIPT2-AS1, LOC100128494, LOC105369391, LOC108281147, LOC110121365, LOC110121439, LOC111718492, LOC111822946, LOC112136082, LOC112136083, LOC112136088, LOC112136089, LOC112136090, LOC116216151, LOC116216152, LOC116216153, LOC116216154, LOC116216155, LOC116216156, LOC116216157, LOC121392927, LOC121392928, LOC121392929, LOC121392930, LOC121392931, LOC121832799, LOC121832800, LOC124500684, LOC124500685, LOC124500686, LOC124500687, LOC124500688, LOC124500689, LOC124500690, LOC124500691, LOC124500692, LOC124500693, LOC126861257, LOC126861258, LOC126861259, LOC126861260, LOC126861261, LOC126861262, LOC126861263, LOC126861264, LOC126861265, LOC126861266, LOC126861267, LOC126861268, LOC126861269, LOC126861270, LOC126861271, LRRC32, LRRC51, LRTOMT, MAP6, MIR139, MIR3165, MIR326, MIR4692, MIR4696, MIR548AL, MOGAT2, MRPL48, NEU3, NUMA1, OR2AT4, P2RY2, P2RY6, P4HA3, P4HA3-AS1, PAAF1, PDE2A, PDE2A-AS1, PGM2L1, PHOX2A, PLEKHB1, POLD3, PPME1, RAB6A, RELT, RNF121, RNF169, RPS3, SERPINH1, SLCO2B1, SNORD15A, SNORD15B, SPCS2, STARD10, THAP12, TOMT, TPBGL, TPBGL-AS1, TRP-AGG2-4, TRP-TGG2-1, TSKU, TSKU-AS1, UCP2, UCP3, UVRAG, UVRAG-DT, WNT11, XRRA1		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 589173.	GRCh38/hg38 11q13.4-14.1(chr11:71969881-78232895)x1 GRCh37: Chr11:71680927-77943941 GRCh38: Chr11:71969881-78232895	AAMDC, ACER3, ALG8, ANAPC15, AQP11, ARAP1, ARAP1-AS2, ARHGEF17, ARHGEF17-AS1, ARRB1, ATG16L2, B3GNT6, C2CD3, CAPN5, CHRDL2, CLNS1A, CLPB, COA4, DGAT2, DGAT2-DT, DNAJB13, EMSY, EMSY-DT, FAM168A, FCHSD2, FOLR1, FOLR2, FOLR3, GAB2, GDPD4, GDPD5, GVQW3, IL18BP, INPPL1, INTS4, KCNE3, KCTD14, KCTD21, KCTD21-AS1, KLHL35, LAMTOR1, LINC01537, LINC02757, LINC03030, LIPT2, LIPT2-AS1, LOC100128494, LOC105369391, LOC108281147, LOC110121365, LOC110121439, LOC111718492, LOC111822946, LOC112136082, LOC112136083, LOC112136088, LOC112136089, LOC112136090, LOC116216151, LOC116216152, LOC116216153, LOC116216154, LOC116216155, LOC116216156, LOC116216157, LOC116216158, LOC121392927, LOC121392928, LOC121392929, LOC121392930, LOC121392931, LOC121832799, LOC121832800, LOC121832801, LOC124500684, LOC124500685, LOC124500686, LOC124500687, LOC124500688, LOC124500689, LOC124500690, LOC124500691, LOC124500692, LOC124500693, LOC124500694, LOC124500695, LOC124500696, LOC124500697, LOC126861257, LOC126861258, LOC126861259, LOC126861260, LOC126861261, LOC126861262, LOC126861263, LOC126861264, LOC126861265, LOC126861266, LOC126861267, LOC126861268, LOC126861269, LOC126861270, LOC126861271, LRRC32, LRRC51, LRTOMT, MAP6, MIR139, MIR3165, MIR326, MIR4692, MIR4696, MIR548AL, MOGAT2, MRPL48, MYO7A, NDUFC2, NDUFC2-KCTD14, NEU3, NUMA1, OMP, OR2AT4, P2RY2, P2RY6, P4HA3, P4HA3-AS1, PAAF1, PAK1, PDE2A, PDE2A-AS1, PGM2L1, PHOX2A, PLEKHB1, POLD3, PPME1, RAB6A, RELT, RNF121, RNF169, RPS3, RSF1, RSF1-IT1, SERPINH1, SLCO2B1, SNORD15A, SNORD15B, SPCS2, STARD10, THAP12, THRSP, TOMT, TPBGL, TPBGL-AS1, TRP-AGG2-4, TRP-TGG2-1, TSKU, TSKU-AS1, UCP2, UCP3, USP35, UVRAG, UVRAG-DT, WNT11, XRRA1		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 8817214.	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 3059715.	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 3059726.	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 8817227.	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 3059738.	NM_006185.4(NUMA1):c.-109C>T GRCh37: Chr11:71791510 GRCh38: Chr11:72080464	NUMA1, LRTOMT		Autosomal recessive nonsyndromic hearing loss 63	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 8817239.	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 30597410.	NM_006185.4(NUMA1):c.-147T>C GRCh37: Chr11:71791548 GRCh38: Chr11:72080502	NUMA1, LRTOMT		Autosomal recessive nonsyndromic hearing loss 63	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88287811.	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 30597512.	NM_001145308.4(LRTOMT):c.-602G>A GRCh37: Chr11:71791651 GRCh38: Chr11:72080605	LRTOMT		Nonsyndromic Hearing Loss, Recessive, not provided	Conflicting interpretations of pathogenicity (Apr 1, 2023)	criteria provided, conflicting interpretations
Select item 30597613.	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 30597714.	NM_001145308.4(LRTOMT):c.-526T>A GRCh37: Chr11:71791727 GRCh38: Chr11:72080681	LRTOMT		Nonsyndromic Hearing Loss, Recessive	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 30597815.	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 88366716.	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 88366817.	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 30597918.	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 30598019.	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 30598120.	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 63217321.	NM_145309.6(LRRC51):c.-140+1G>T GRCh37: Chr11:71791932 GRCh38: Chr11:72080886	LRTOMT, LRRC51		Autosomal recessive nonsyndromic hearing loss 63	Uncertain significance (Jan 1, 2019)	criteria provided, single submitter
Select item 30598222.	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 124630923.	NM_145309.6(LRRC51):c.-139-239G>A GRCh37: Chr11:71799104 GRCh38: Chr11:72088058	LRTOMT, LRRC51		not provided	Benign (Nov 12, 2018)	criteria provided, single submitter
Select item 119607724.	NM_145309.6(LRRC51):c.-56+176C>T GRCh37: Chr11:71799602 GRCh38: Chr11:72088556	LRRC51, LRTOMT		not provided	Likely benign (Apr 24, 2019)	criteria provided, single submitter
Select item 125105925.	NM_145309.6(LRRC51):c.-56+242A>C GRCh37: Chr11:71799668 GRCh38: Chr11:72088622	LRRC51, LRTOMT		not provided	Benign (Nov 12, 2018)	criteria provided, single submitter
Select item 120228726.	NM_145309.6(LRRC51):c.-55-195A>G GRCh37: Chr11:71799880 GRCh38: Chr11:72088834	LRRC51, LRTOMT		not provided	Likely benign (Feb 28, 2019)	criteria provided, single submitter
Select item 124778427.	NM_145309.6(LRRC51):c.-55-110T>C GRCh37: Chr11:71799965 GRCh38: Chr11:72088919	LRRC51, LRTOMT		not provided	Benign (Dec 17, 2018)	criteria provided, single submitter
Select item 134495928.	NM_145309.6(LRRC51):c.52T>C (p.Tyr18His) GRCh37: Chr11:71800181 GRCh38: Chr11:72089135	LRTOMT, LRRC51	Y18H	not provided	Likely benign (Sep 16, 2021)	criteria provided, single submitter
Select item 120544029.	NM_145309.6(LRRC51):c.83-109A>G GRCh37: Chr11:71804433 GRCh38: Chr11:72093387	LRRC51, LRTOMT		not provided	Likely benign (Dec 31, 2018)	criteria provided, single submitter
Select item 68280630.	NM_145309.6(LRRC51):c.83-29G>A GRCh37: Chr11:71804513 GRCh38: Chr11:72093467	LRRC51, LRTOMT		not provided	Benign (Jun 16, 2018)	criteria provided, single submitter
Select item 30598331.	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 22883832.	NM_145309.6(LRRC51):c.115C>T (p.Arg39Ter) GRCh37: Chr11:71804574 GRCh38: Chr11:72093528	LRTOMT, LRRC51	R39, R21	not specified, not provided	Conflicting interpretations of pathogenicity (Oct 24, 2021)	criteria provided, conflicting interpretations
Select item 130522433.	NM_145309.6(LRRC51):c.116G>A (p.Arg39Gln) GRCh37: Chr11:71804575 GRCh38: Chr11:72093529	LRRC51, LRTOMT	R21Q, R39Q	not provided	Uncertain significance (Apr 24, 2019)	criteria provided, single submitter
Select item 30598434.	NM_145309.6(LRRC51):c.148C>G (p.Leu50Val) GRCh37: Chr11:71804607 GRCh38: Chr11:72093561	LRRC51, LRTOMT	L50V, L32V	Nonsyndromic Hearing Loss, Recessive	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 30598535.	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 88132736.	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 66662837.	NM_145309.6(LRTOMT):c.253G>A (p.Asp85Asn) GRCh37: Chr11:71804712 GRCh38: Chr11:72093666	LRRC51, LRTOMT	D67N, D85N	not specified	Benign (Nov 21, 2018)	criteria provided, single submitter
Select item 30598638.	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 30598739.	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 124419440.	NM_145309.6(LRRC51):c.288+19G>C GRCh37: Chr11:71804766 GRCh38: Chr11:72093720	LRRC51, LRTOMT		not provided	Benign (Oct 18, 2020)	criteria provided, single submitter
Select item 125839641.	NM_145309.6(LRRC51):c.289-261GA[4] GRCh37: Chr11:71805732-71805733 GRCh38: Chr11:72094686-72094687	LRRC51, LRTOMT		not provided	Benign (Jan 28, 2019)	criteria provided, single submitter
Select item 80499442.	NM_145309.6(LRTOMT):c.315T>C (p.Ser105=) GRCh37: Chr11:71806020 GRCh38: Chr11:72094974	LRTOMT, LRRC51		not provided	Uncertain significance (Jan 21, 2019)	criteria provided, single submitter
Select item 169917243.	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 168760244.	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 30598845.	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 22671846.	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 30598947.	NM_145309.6(LRRC51):c.388del (p.Arg130fs) GRCh37: Chr11:71806092 GRCh38: Chr11:72095046	LRRC51, LRTOMT	R112fs, R130fs	Nonsyndromic Hearing Loss, Recessive	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 74026048.	NM_145309.6(LRTOMT):c.437+8C>T GRCh37: Chr11:71806150 GRCh38: Chr11:72095104	LRRC51, LRTOMT		not provided	Likely benign (Apr 5, 2018)	criteria provided, single submitter
Select item 121427949.	NM_145309.6(LRRC51):c.464G>A (p.Arg155His) GRCh37: Chr11:71806451 GRCh38: Chr11:72095405	LRTOMT, LRRC51	R137H, R155H	not provided	Likely benign (Oct 14, 2020)	criteria provided, single submitter
Select item 42995050.	NM_145309.6(LRRC51):c.502G>A (p.Asp168Asn) GRCh37: Chr11:71806489 GRCh38: Chr11:72095443	LRRC51, LRTOMT	D150N, D168N	not provided	Uncertain significance (Nov 12, 2018)	criteria provided, single submitter
Select item 121638951.	NM_145309.6(LRRC51):c.528A>G (p.Lys176=) GRCh37: Chr11:71806515 GRCh38: Chr11:72095469	LRTOMT, LRRC51		not provided	Likely benign (Jul 23, 2018)	criteria provided, single submitter
Select item 118730552.	NM_145309.6(LRRC51):c.542A>C (p.Lys181Thr) GRCh37: Chr11:71806529 GRCh38: Chr11:72095483	LRRC51, LRTOMT	K163T, K181T	not provided	Likely benign (Jul 27, 2020)	criteria provided, single submitter
Select item 118661753.	NM_145309.6(LRRC51):c.*22C>T GRCh37: Chr11:71806588 GRCh38: Chr11:72095542	LRRC51, LRTOMT		not provided	Likely benign (Jul 23, 2018)	criteria provided, single submitter
Select item 120886654.	NM_145309.6(LRRC51):c.*37A>G GRCh37: Chr11:71806603 GRCh38: Chr11:72095557	LRTOMT, LRRC51		not provided	Likely benign (Jul 27, 2020)	criteria provided, single submitter
Select item 123053855.	NM_145309.6(LRRC51):c.*170dup GRCh37: Chr11:71806722-71806723 GRCh38: Chr11:72095676-72095677	LRRC51, LRTOMT		not provided	Benign (Dec 24, 2019)	criteria provided, single submitter
Select item 122880056.	NM_145309.6(LRRC51):c.*170del GRCh37: Chr11:71806723 GRCh38: Chr11:72095677	LRRC51, LRTOMT		not provided	Benign (Feb 6, 2020)	criteria provided, single submitter
Select item 104956857.	NM_145309.6(LRRC51):c.*1201A>C GRCh37: Chr11:71807767 GRCh38: Chr11:72096721	LRRC51, LRTOMT		not provided	Benign (Jun 25, 2020)	criteria provided, single submitter
Select item 121547758.	NM_145309.6(LRRC51):c.*1260C>T GRCh37: Chr11:71807826 GRCh38: Chr11:72096780	LRRC51, LRTOMT		not provided	Likely benign (Jun 9, 2019)	criteria provided, single submitter
Select item 124591559.	NM_001145308.5(LRTOMT):c.34+1914T>C GRCh37: Chr11:71808056 GRCh38: Chr11:72097010	LRTOMT		not provided	Benign (Nov 12, 2018)	criteria provided, single submitter
Select item 254567760.	NM_017907.3(LAMTOR1):c.191A>T (p.Asn64Ile) GRCh37: Chr11:71809902 GRCh38: Chr11:72098856	LAMTOR1, LRTOMT	N64I	Inborn genetic diseases	Uncertain significance (May 9, 2023)	criteria provided, single submitter
Select item 236547261.	NM_017907.3(LAMTOR1):c.116A>T (p.Asn39Ile) GRCh37: Chr11:71810229 GRCh38: Chr11:72099183	LRTOMT, LAMTOR1	N39I	Inborn genetic diseases	Uncertain significance (Jul 29, 2022)	criteria provided, single submitter
Select item 251697662.	NM_017907.3(LAMTOR1):c.97C>G (p.Leu33Val) GRCh37: Chr11:71810248 GRCh38: Chr11:72099202	LAMTOR1, LRTOMT	L33V	Inborn genetic diseases	Uncertain significance (May 24, 2023)	criteria provided, single submitter
Select item 222153763.	NM_017907.3(LAMTOR1):c.73C>T (p.Pro25Ser) GRCh37: Chr11:71810272 GRCh38: Chr11:72099226	LRTOMT, LAMTOR1	P25S	Inborn genetic diseases	Uncertain significance (Aug 4, 2021)	criteria provided, single submitter
Select item 234136564.	NM_017907.3(LAMTOR1):c.56G>A (p.Arg19Gln) GRCh37: Chr11:71810289 GRCh38: Chr11:72099243	LAMTOR1, LRTOMT	R19Q	Inborn genetic diseases	Uncertain significance (Oct 27, 2022)	criteria provided, single submitter
Select item 229687665.	NM_017907.3(LAMTOR1):c.53A>C (p.Glu18Ala) GRCh37: Chr11:71810292 GRCh38: Chr11:72099246	LAMTOR1, LRTOMT	E18A	Inborn genetic diseases	Uncertain significance (Jun 24, 2022)	criteria provided, single submitter
Select item 125813166.	NM_001145308.5(LRTOMT):c.35-44T>C GRCh37: Chr11:71815966 GRCh38: Chr11:72104920	LRTOMT		not provided	Benign (Jul 16, 2020)	criteria provided, single submitter
Select item 211621567.	NM_001145308.5(LRTOMT):c.35-16G>C GRCh37: Chr11:71815994 GRCh38: Chr11:72104948	LRTOMT		not provided	Likely benign (Oct 9, 2022)	criteria provided, single submitter
Select item 79744668.	NM_001145308.5(LRTOMT):c.35-5C>T GRCh37: Chr11:71816005 GRCh38: Chr11:72104959	LRTOMT		not provided	Likely benign (May 6, 2021)	criteria provided, multiple submitters, no conflicts
Select item 66670969.	NM_001145308.5(LRTOMT):c.35-4G>A GRCh37: Chr11:71816006 GRCh38: Chr11:72104960	LRTOMT		not specified, not provided	Likely benign (Jun 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 22884170.	NM_001145308.5(LRTOMT):c.53A>C (p.Asp18Ala) GRCh37: Chr11:71816028 GRCh38: Chr11:72104982	LRTOMT	D18A	not specified	Uncertain significance (Dec 22, 2015)	criteria provided, single submitter
Select item 135360071.	NM_001145308.5(LRTOMT):c.55C>A (p.Leu19Met) GRCh37: Chr11:71816030 GRCh38: Chr11:72104984	LRTOMT	L19M	not provided	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 141344372.	NM_001145308.5(LRTOMT):c.61T>C (p.Cys21Arg) GRCh37: Chr11:71816036 GRCh38: Chr11:72104990	LRTOMT	C21R	Inborn genetic diseases, not provided	Uncertain significance (Jul 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4404273.	NM_001145308.5(LRTOMT):c.69G>C (p.Leu23=) GRCh37: Chr11:71816044 GRCh38: Chr11:72104998	LRTOMT		not specified, Nonsyndromic Hearing Loss, Recessive, not provided	Benign/Likely benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 68280774.	NM_001145308.5(LRTOMT):c.83+34T>A GRCh37: Chr11:71816092 GRCh38: Chr11:72105046	LRTOMT		not provided	Benign (Jun 16, 2018)	criteria provided, single submitter
Select item 118322375.	NM_001145308.5(LRTOMT):c.83+161G>A GRCh37: Chr11:71816219 GRCh38: Chr11:72105173	LRTOMT		not provided	Benign (Nov 12, 2018)	criteria provided, single submitter
Select item 118003676.	NM_001145308.5(LRTOMT):c.84-234_84-232del GRCh37: Chr11:71816745-71816747 GRCh38: Chr11:72105699-72105701	LRTOMT		not provided	Likely benign (Mar 1, 2020)	criteria provided, single submitter
Select item 118680577.	NM_001145308.5(LRTOMT):c.84-216G>C GRCh37: Chr11:71816766 GRCh38: Chr11:72105720	LRTOMT		not provided	Likely benign (Apr 9, 2019)	criteria provided, single submitter
Select item 165079778.	NM_001145308.5(LRTOMT):c.84-18T>C GRCh37: Chr11:71816964 GRCh38: Chr11:72105918	LRTOMT		not provided	Likely benign (Apr 8, 2022)	criteria provided, single submitter
Select item 137604779.	NM_001393500.2(TOMT):c.-4_10del (p.Met1fs) GRCh37: Chr11:71816993-71817006 GRCh38: Chr11:72105947-72105960	LRTOMT, TOMT	T33fs, M1fs	not provided	Pathogenic (Dec 5, 2021)	criteria provided, single submitter
Select item 22753280.	NM_001393500.2(TOMT):c.18A>G (p.Ala6=) GRCh37: Chr11:71817015 GRCh38: Chr11:72105969	LRTOMT, TOMT		not specified	Likely benign (Aug 21, 2015)	criteria provided, single submitter
Select item 22753381.	NM_001393500.2(TOMT):c.19T>C (p.Leu7=) GRCh37: Chr11:71817016 GRCh38: Chr11:72105970	LRTOMT, TOMT		not specified	Likely benign (Aug 24, 2015)	criteria provided, single submitter
Select item 133365982.	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 181017383.	NM_001393500.2(TOMT):c.56G>A (p.Arg19Gln) GRCh37: Chr11:71817053 GRCh38: Chr11:72106007	LRTOMT, TOMT	R19Q, R52Q	not provided	Uncertain significance (Oct 28, 2022)	criteria provided, single submitter
Select item 232689284.	NM_001393500.2(TOMT):c.61C>T (p.Arg21Trp) GRCh37: Chr11:71817058 GRCh38: Chr11:72106012	TOMT, LRTOMT	R54W, R21W	Inborn genetic diseases	Uncertain significance (Nov 17, 2022)	criteria provided, single submitter
Select item 133369485.	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 16394186.	NM_001393500.2(TOMT):c.66C>G (p.His22Gln) GRCh37: Chr11:71817063 GRCh38: Chr11:72106017	LRTOMT, TOMT	H55Q, H22Q	not specified	Uncertain significance (Mar 31, 2015)	criteria provided, single submitter
Select item 63217487.	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 133959588.	NM_001393500.2(TOMT):c.74G>A (p.Arg25Gln) GRCh37: Chr11:71817071 GRCh38: Chr11:72106025	TOMT, LRTOMT	R25Q, R58Q	not provided	Uncertain significance (Jan 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 243353489.	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 199023890.	NM_001393500.2(TOMT):c.85C>T (p.Arg29Cys) GRCh37: Chr11:71817082 GRCh38: Chr11:72106036	LRTOMT, TOMT	R29C, R62C	not provided	Likely benign (Oct 19, 2022)	criteria provided, single submitter
Select item 22753491.	NM_001393500.2(TOMT):c.89C>T (p.Thr30Met) GRCh37: Chr11:71817086 GRCh38: Chr11:72106040	LRTOMT, TOMT	T63M, T30M	not specified	Likely benign (Aug 24, 2015)	criteria provided, single submitter
Select item 30599092.	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 17986793.	NM_001393500.2(TOMT):c.92T>G (p.Val31Gly) GRCh37: Chr11:71817089 GRCh38: Chr11:72106043	LRTOMT, TOMT	V64G, V31G	not provided, not specified	Uncertain significance (Apr 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 22884094.	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 180495095.	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 224140396.	NM_001393500.2(TOMT):c.101G>A (p.Arg34Gln) GRCh37: Chr11:71817098 GRCh38: Chr11:72106052	TOMT, LRTOMT	R34Q, R67Q	Inborn genetic diseases	Uncertain significance (Aug 4, 2021)	criteria provided, single submitter
Select item 50539797.	NM_001393500.2(TOMT):c.105C>T (p.Ser35=) GRCh37: Chr11:71817102 GRCh38: Chr11:72106056	LRTOMT, TOMT		not specified	Likely benign (Nov 13, 2016)	criteria provided, single submitter
Select item 30599198.	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 4403899.	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 1481162100.	NM_001393500.2(TOMT):c.131G>A (p.Arg44Gln) GRCh37: Chr11:71817128 GRCh38: Chr11:72106082	LRTOMT, TOMT	R44Q, R77Q, R37Q	not provided	Uncertain significance (Sep 13, 2022)	criteria provided, single submitter

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