ClinVar for MedGen (Select 448018) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25012871.	NC_000018.9:g.(44098220_44102063)_(44102273_44104428)del GRCh37: Chr18:44098220-44104428	LOXHD1		Nonsyndromic genetic hearing loss	Likely pathogenic (Mar 24, 2023)	criteria provided, single submitter
Select item 25010182.	NM_194248.3(OTOF):c.5667G>A (p.Trp1889Ter) GRCh37: Chr2:26683765 GRCh38: Chr2:26460897	OTOF	W1122, W1199, W1889*	Nonsyndromic genetic hearing loss	Likely pathogenic (Mar 15, 2023)	criteria provided, single submitter
Select item 24459093.	NC_000002.11:g.(26726714_26739285)_(26741978_26750699)del GRCh37: Chr2:26726714-26750699	OTOF		Nonsyndromic genetic hearing loss	Likely pathogenic (Feb 19, 2023)	criteria provided, single submitter
Select item 24458774.	NM_001039876.3(SYNE4):c.653T>A (p.Leu218Ter) GRCh37: Chr19:36497539 GRCh38: Chr19:36006637	SYNE4	L105, L218	Nonsyndromic genetic hearing loss	Likely pathogenic (Feb 16, 2023)	criteria provided, single submitter
Select item 24293215.	NM_194248.3(OTOF):c.153_159del (p.Val52fs) GRCh37: Chr2:26750768-26750774 GRCh38: Chr2:26527900-26527906	OTOF	V52fs	Nonsyndromic genetic hearing loss	Likely pathogenic (Jan 31, 2023)	criteria provided, single submitter
Select item 19807366.	NM_001384474.1(LOXHD1):c.870del (p.Ala291fs) GRCh37: Chr18:44184082 GRCh38: Chr18:46604119	LOXHD1	A291fs	Nonsyndromic genetic hearing loss, not provided	Pathogenic/Likely pathogenic (Feb 6, 2023)	criteria provided, multiple submitters, no conflicts
Select item 18750987.	NM_001384474.1(LOXHD1):c.2641G>A (p.Gly881Arg) GRCh37: Chr18:44140466 GRCh38: Chr18:46560503	LOXHD1	G881R	Nonsyndromic genetic hearing loss, not provided	Pathogenic/Likely pathogenic (Dec 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 17995678.	NM_004004.6(GJB2):c.449del (p.Phe150fs) GRCh37: Chr13:20763272 GRCh38: Chr13:20189133	GJB2	F150fs	Nonsyndromic genetic hearing loss	Pathogenic (Sep 2, 2022)	no assertion criteria provided
Select item 17234029.	NM_001039876.3(SYNE4):c.377del (p.Gly126fs) GRCh37: Chr19:36498073 GRCh38: Chr19:36007171	SYNE4	G126fs	Nonsyndromic genetic hearing loss	Likely pathogenic (Oct 28, 2022)	criteria provided, single submitter
Select item 172324710.	NM_001384474.1(LOXHD1):c.1519-2A>T GRCh37: Chr18:44172033 GRCh38: Chr18:46592070	LOXHD1		Nonsyndromic genetic hearing loss	Likely pathogenic (Oct 5, 2022)	criteria provided, single submitter
Select item 139754011.	NM_194248.3(OTOF):c.76C>T (p.Arg26Ter) GRCh37: Chr2:26781364 GRCh38: Chr2:26558496	OTOF	R26*	Nonsyndromic genetic hearing loss, not provided	Pathogenic/Likely pathogenic (Jan 16, 2023)	criteria provided, multiple submitters, no conflicts
Select item 132693312.	NM_004004.6(GJB2):c.382A>G (p.Ile128Val) GRCh37: Chr13:20763339 GRCh38: Chr13:20189200	GJB2	I128V	Nonsyndromic genetic hearing loss	Likely pathogenic (Dec 3, 2021)	criteria provided, single submitter
Select item 118559513.	NM_033380.3(COL4A5):c.1759C>T (p.Pro587Ser) GRCh37: ChrX:107840778 GRCh38: ChrX:108597548	COL4A5	P587S	Nonsyndromic genetic hearing loss	Uncertain significance (Jul 15, 2021)	criteria provided, single submitter
Select item 118559414.	NM_033380.3(COL4A5):c.1183C>T (p.Pro395Ser) GRCh37: ChrX:107834305 GRCh38: ChrX:108591075	COL4A5	P395S	not provided, Nonsyndromic genetic hearing loss	Uncertain significance (Jun 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 118559215.	NM_001256317.3(TMPRSS3):c.242C>G (p.Ser81Ter) GRCh37: Chr21:43809118 GRCh38: Chr21:42389009	TMPRSS3	S81*	Nonsyndromic genetic hearing loss	Pathogenic (Jul 15, 2021)	criteria provided, single submitter
Select item 118559016.	NM_015340.4(LARS2):c.1481dup (p.Leu495fs) GRCh37: Chr3:45533244-45533245 GRCh38: Chr3:45491752-45491753	LARS2-AS1, LARS2	L495fs	not provided, Nonsyndromic genetic hearing loss	Pathogenic (Aug 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 118558917.	NM_004100.5(EYA4):c.580+2T>C GRCh37: Chr6:133783617 GRCh38: Chr6:133462479	EYA4		Nonsyndromic genetic hearing loss	Pathogenic (Jul 15, 2021)	criteria provided, single submitter
Select item 118558818.	NM_004999.4(MYO6):c.1939T>C (p.Phe647Leu) GRCh37: Chr6:76576817 GRCh38: Chr6:75867100	MYO6	F642L, F647L	Nonsyndromic genetic hearing loss	Uncertain significance (Jul 15, 2021)	criteria provided, single submitter
Select item 118509819.	NM_138691.3(TMC1):c.797T>C (p.Ile266Thr) GRCh37: Chr9:75387384 GRCh38: Chr9:72772468	TMC1	I266T	Nonsyndromic genetic hearing loss	Likely pathogenic (Jan 20, 2023)	criteria provided, single submitter
Select item 112012120.	NM_001292063.2(OTOG):c.5506C>T (p.Gln1836Ter) GRCh37: Chr11:17632353 GRCh38: Chr11:17610806	OTOG	Q1836, Q1848	Nonsyndromic genetic hearing loss	Likely pathogenic (May 1, 2020)	criteria provided, single submitter
Select item 107392921.	NM_000260.4(MYO7A):c.733C>T (p.Gln245Ter) GRCh37: Chr11:76868048 GRCh38: Chr11:77157002	MYO7A	Q234, Q245	not provided, Nonsyndromic genetic hearing loss	Pathogenic (Sep 29, 2021)	criteria provided, multiple submitters, no conflicts
Select item 107145822.	NM_001384474.1(LOXHD1):c.2913dup (p.Glu972fs) GRCh37: Chr18:44140193-44140194 GRCh38: Chr18:46560230-46560231	LOXHD1	E972fs	not provided, Nonsyndromic genetic hearing loss	Pathogenic/Likely pathogenic (Mar 6, 2023)	criteria provided, multiple submitters, no conflicts
Select item 99592323.	NM_001354604.2(MITF):c.1198C>T (p.Arg400Ter) GRCh37: Chr3:70014016 GRCh38: Chr3:69964865	MITF	R231, R287, R293, R342, R377, R378, R393, R394, R399, R400	not provided, Nonsyndromic genetic hearing loss, Waardenburg syndrome type 2A	Pathogenic (Oct 19, 2021)	criteria provided, multiple submitters, no conflicts
Select item 97879024.	Single allele GRCh37: Chr13:20802727-21034768	CRYL1, GJB6		Nonsyndromic genetic hearing loss	Pathogenic (Aug 31, 2020)	criteria provided, single submitter
Select item 97878925.	Single allele GRCh37: Chr13:20797127-21105945	CRYL1, GJB6		Nonsyndromic genetic hearing loss	Pathogenic (Aug 31, 2020)	criteria provided, single submitter
Select item 97841826.	NM_004004.6(GJB2):c.569T>A (p.Val190Asp) GRCh37: Chr13:20763152 GRCh38: Chr13:20189013	GJB2	V190D	Nonsyndromic genetic hearing loss	Uncertain significance (Aug 31, 2020)	criteria provided, single submitter
Select item 97841727.	NM_004004.6(GJB2):c.29T>C (p.Leu10Pro) GRCh37: Chr13:20763692 GRCh38: Chr13:20189553	GJB2	L10P	Nonsyndromic genetic hearing loss	Uncertain significance (Aug 31, 2020)	criteria provided, single submitter
Select item 97515528.	NM_004004.6(GJB2):c.232G>T (p.Ala78Ser) GRCh37: Chr13:20763489 GRCh38: Chr13:20189350	GJB2	A78S	Nonsyndromic genetic hearing loss, not provided	Conflicting interpretations of pathogenicity (Aug 14, 2021)	criteria provided, conflicting interpretations
Select item 97515429.	NM_004004.6(GJB2):c.326G>T (p.Gly109Val) GRCh37: Chr13:20763395 GRCh38: Chr13:20189256	GJB2	G109V	Nonsyndromic genetic hearing loss	Likely pathogenic (Aug 4, 2020)	criteria provided, single submitter
Select item 97515330.	NM_004004.6(GJB2):c.632G>A (p.Cys211Tyr) GRCh37: Chr13:20763089 GRCh38: Chr13:20188950	GJB2	C211Y	Nonsyndromic genetic hearing loss	Likely pathogenic (Aug 4, 2020)	criteria provided, single submitter
Select item 93013431.	NM_004999.4(MYO6):c.78del (p.Asp27fs) GRCh37: Chr6:76527339 GRCh38: Chr6:75817622	MYO6	D27fs	Nonsyndromic genetic hearing loss	Likely pathogenic (Nov 26, 2019)	criteria provided, single submitter
Select item 93003332.	NM_016239.4(MYO15A):c.10045C>T (p.Gln3349Ter) GRCh37: Chr17:18071000 GRCh38: Chr17:18167686	MYO15A	Q3349*	Nonsyndromic genetic hearing loss	Pathogenic (Sep 28, 2021)	reviewed by expert panel FDA Recognized Database
Select item 92994233.	NM_194248.3(OTOF):c.1927G>T (p.Glu643Ter) GRCh37: Chr2:26702507 GRCh38: Chr2:26479639	OTOF	E643*	Nonsyndromic genetic hearing loss, Rare genetic deafness	Likely pathogenic (Feb 28, 2023)	criteria provided, multiple submitters, no conflicts
Select item 89795534.	NM_194248.3(OTOF):c.5405C>T (p.Ala1802Val) GRCh37: Chr2:26684692 GRCh38: Chr2:26461824	OTOF	A1035V, A1112V, A1802V	Nonsyndromic genetic hearing loss	Uncertain significance (Jun 16, 2021)	reviewed by expert panel FDA Recognized Database
Select item 86910235.	NM_020982.4(CLDN9):c.475G>A (p.Glu159Lys) GRCh37: Chr16:3063838 GRCh38: Chr16:3013837	CLDN9	E159K	Nonsyndromic genetic hearing loss	Uncertain significance	criteria provided, single submitter
Select item 86683736.	NM_000260.4(MYO7A):c.3862G>C (p.Ala1288Pro) GRCh37: Chr11:76901853 GRCh38: Chr11:77190808	MYO7A	A1277P, A1288P	Nonsyndromic genetic hearing loss	Likely pathogenic (Dec 21, 2022)	reviewed by expert panel FDA Recognized Database
Select item 80434137.	NM_001039213.4(CEACAM16):c.1122dup (p.Ala375fs) GRCh37: Chr19:45211310-45211311 GRCh38: Chr19:44708038-44708039	CEACAM16	A375fs	Nonsyndromic genetic hearing loss	Likely pathogenic (Jun 12, 2019)	criteria provided, single submitter
Select item 80270038.	NM_000260.4(MYO7A):c.19G>A (p.Gly7Arg) GRCh37: Chr11:76853755 GRCh38: Chr11:77142709	MYO7A	G7R	Nonsyndromic genetic hearing loss	Uncertain significance (Dec 24, 2020)	reviewed by expert panel FDA Recognized Database
Select item 66714139.	NM_194248.3(OTOF):c.4091G>T (p.Gly1364Val) GRCh37: Chr2:26690369 GRCh38: Chr2:26467501	OTOF	G1364V, G597V, G674V	Nonsyndromic genetic hearing loss	Likely benign (May 13, 2022)	reviewed by expert panel FDA Recognized Database
Select item 66699540.	NM_016239.4(MYO15A):c.9517+2T>C GRCh37: Chr17:18064763 GRCh38: Chr17:18161449	MYO15A		Nonsyndromic genetic hearing loss	Likely pathogenic (Jul 27, 2021)	reviewed by expert panel FDA Recognized Database
Select item 64416241.	NM_004004.6(GJB2):c.576del (p.Val193fs) GRCh37: Chr13:20763145 GRCh38: Chr13:20189006	GJB2	V193fs	Nonsyndromic genetic hearing loss, not provided, Autosomal dominant keratitis-ichthyosis-hearing loss syndrome, Autosomal recessive nonsyndromic hearing loss 1A, Palmoplantar keratoderma-deafness syndrome, Knuckle pads, deafness AND leukonychia syndrome, Mutilating keratoderma, Ichthyosis, hystrix-like, with hearing loss, Autosomal dominant nonsyndromic hearing loss 3A, X-linked mixed hearing loss with perilymphatic gusher	Pathogenic (Apr 18, 2023)	criteria provided, multiple submitters, no conflicts
Select item 63227142.	NM_016239.4(MYO15A):c.4198G>A (p.Val1400Met) GRCh37: Chr17:18034837 GRCh38: Chr17:18131523	MYO15A	V1400M	Nonsyndromic genetic hearing loss	Pathogenic (Jul 27, 2021)	reviewed by expert panel FDA Recognized Database
Select item 63185643.	NM_194248.3(OTOF):c.149G>A (p.Trp50Ter) GRCh37: Chr2:26750778 GRCh38: Chr2:26527910	OTOF	W50*	not provided, Nonsyndromic genetic hearing loss, Autosomal recessive nonsyndromic hearing loss 9	Conflicting interpretations of pathogenicity (Apr 12, 2023)	criteria provided, conflicting interpretations
Select item 62334744.	NM_016239.4(MYO15A):c.1171_1177dup (p.Tyr393fs) GRCh37: Chr17:18023284-18023285 GRCh38: Chr17:18119970-18119971	MYO15A	Y393fs	Nonsyndromic genetic hearing loss	Pathogenic (Sep 28, 2021)	reviewed by expert panel FDA Recognized Database
Select item 61767545.	NM_017433.5(MYO3A):c.2090T>G (p.Leu697Trp) GRCh37: Chr10:26414513 GRCh38: Chr10:26125584	MYO3A	L697W	Nonsyndromic genetic hearing loss, not provided, nonsyndromic sensorineural hearing loss	Pathogenic (Nov 24, 2020)	criteria provided, multiple submitters, no conflicts
Select item 59079946.	NM_004004.6(GJB2):c.516G>C (p.Trp172Cys) GRCh37: Chr13:20763205 GRCh38: Chr13:20189066	GJB2	W172C	Nonsyndromic genetic hearing loss	Pathogenic (Jul 28, 2019)	reviewed by expert panel FDA Recognized Database
Select item 58532747.	NM_004004.6(GJB2):c.653G>A (p.Cys218Tyr) GRCh37: Chr13:20763068 GRCh38: Chr13:20188929	GJB2	C218Y	Nonsyndromic genetic hearing loss	Uncertain significance (Sep 10, 2018)	reviewed by expert panel FDA Recognized Database
Select item 58532248.	NM_004004.6(GJB2):c.677T>A (p.Val226Asp) GRCh37: Chr13:20763044 GRCh38: Chr13:20188905	GJB2	V226D	Nonsyndromic genetic hearing loss	Uncertain significance (Sep 27, 2018)	reviewed by expert panel FDA Recognized Database
Select item 55572049.	NM_004004.6(GJB2):c.674C>T (p.Pro225Leu) GRCh37: Chr13:20763047 GRCh38: Chr13:20188908	GJB2	P225L	Nonsyndromic genetic hearing loss	Uncertain significance (Sep 20, 2018)	reviewed by expert panel FDA Recognized Database
Select item 55513850.	NM_000260.4(MYO7A):c.1183C>T (p.Arg395Cys) GRCh37: Chr11:76871311 GRCh38: Chr11:77160265	MYO7A	R395C, R384C	Nonsyndromic genetic hearing loss	Likely pathogenic (Oct 20, 2020)	reviewed by expert panel FDA Recognized Database
Select item 55356851.	NM_004004.6(GJB2):c.232dup (p.Ala78fs) GRCh37: Chr13:20763488-20763489 GRCh38: Chr13:20189349-20189350	GJB2	A78fs	Autosomal recessive nonsyndromic hearing loss 1A, Nonsyndromic genetic hearing loss, not provided	Pathogenic/Likely pathogenic (Mar 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 55096152.	NM_004004.6(GJB2):c.533T>C (p.Val178Ala) GRCh37: Chr13:20763188 GRCh38: Chr13:20189049	GJB2	V178A	not provided, Autosomal recessive nonsyndromic hearing loss 1A, Nonsyndromic genetic hearing loss	Pathogenic/Likely pathogenic (Aug 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 52393753.	NM_004999.4(MYO6):c.2751dup (p.Gln918fs) GRCh37: Chr6:76599857-76599858 GRCh38: Chr6:75890140-75890141	MYO6	Q918fs, Q913fs	Nonsyndromic genetic hearing loss	Uncertain significance (Jun 25, 2020)	reviewed by expert panel FDA Recognized Database
Select item 51750754.	NM_001384474.1(LOXHD1):c.6539G>A (p.Gly2180Glu) GRCh37: Chr18:44057718 GRCh38: Chr18:46477755	LOXHD1	G2118E, G419E, G973E, G1069E, G2180E	Autosomal recessive nonsyndromic hearing loss 77, not specified, Nonsyndromic genetic hearing loss, not provided	Conflicting interpretations of pathogenicity (Feb 14, 2023)	criteria provided, conflicting interpretations
Select item 51735755.	NM_000260.4(MYO7A):c.1817G>A (p.Arg606His) GRCh37: Chr11:76883813 GRCh38: Chr11:77172767	MYO7A	R606H, R595H	Nonsyndromic genetic hearing loss	Uncertain significance (Sep 28, 2018)	reviewed by expert panel FDA Recognized Database
Select item 50533056.	NM_001384474.1(LOXHD1):c.3148G>T (p.Glu1050Ter) GRCh37: Chr18:44139479 GRCh38: Chr18:46559516	LOXHD1	E1050*	Nonsyndromic genetic hearing loss, Rare genetic deafness, not provided	Pathogenic/Likely pathogenic (Mar 30, 2023)	criteria provided, multiple submitters, no conflicts
Select item 50530257.	NM_004700.4(KCNQ4):c.825G>C (p.Trp275Cys) GRCh37: Chr1:41285135 GRCh38: Chr1:40819463	KCNQ4	W275C	Nonsyndromic genetic hearing loss	Likely pathogenic (Sep 10, 2018)	reviewed by expert panel FDA Recognized Database
Select item 50518558.	NM_016239.4(MYO15A):c.996C>G (p.Tyr332Ter) GRCh37: Chr17:18023110 GRCh38: Chr17:18119796	MYO15A	Y332*	Nonsyndromic genetic hearing loss	Likely pathogenic (Sep 28, 2021)	reviewed by expert panel FDA Recognized Database
Select item 50463059.	NM_016239.4(MYO15A):c.4497G>T (p.Glu1499Asp) GRCh37: Chr17:18039039 GRCh38: Chr17:18135725	MYO15A	E1499D	Nonsyndromic genetic hearing loss	Uncertain significance (Jun 15, 2021)	reviewed by expert panel FDA Recognized Database
Select item 50462960.	NM_016239.4(MYO15A):c.1582G>A (p.Gly528Ser) GRCh37: Chr17:18023696 GRCh38: Chr17:18120382	MYO15A	G528S	Nonsyndromic genetic hearing loss	Likely benign (Jul 22, 2021)	reviewed by expert panel FDA Recognized Database
Select item 50006161.	NM_016239.4(MYO15A):c.1137del (p.Tyr380fs) GRCh37: Chr17:18023248 GRCh38: Chr17:18119934	MYO15A	Y380fs	Nonsyndromic genetic hearing loss	Likely pathogenic (Sep 28, 2021)	reviewed by expert panel FDA Recognized Database
Select item 49951362.	NM_004004.6(GJB2):c.95G>T (p.Arg32Leu) GRCh37: Chr13:20763626 GRCh38: Chr13:20189487	GJB2	R32L	Autosomal recessive nonsyndromic hearing loss 1A, Autosomal dominant keratitis-ichthyosis-hearing loss syndrome, Palmoplantar keratoderma-deafness syndrome, Knuckle pads, deafness AND leukonychia syndrome, Ichthyosis, hystrix-like, with hearing loss, Mutilating keratoderma, Autosomal dominant nonsyndromic hearing loss 3A, X-linked mixed hearing loss with perilymphatic gusher, not provided, Nonsyndromic genetic hearing loss	Pathogenic/Likely pathogenic (Jul 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 49853863.	NM_005422.4(TECTA):c.4085G>A (p.Trp1362Ter) GRCh37: Chr11:121016805 GRCh38: Chr11:121146096	TBCEL-TECTA, TECTA	W1362, W1681	Nonsyndromic genetic hearing loss	Pathogenic (Jan 21, 2020)	reviewed by expert panel FDA Recognized Database
Select item 44952664.	NM_016239.4(MYO15A):c.4176C>A (p.Tyr1392Ter) GRCh37: Chr17:18034815 GRCh38: Chr17:18131501	MYO15A	Y1392*	Nonsyndromic genetic hearing loss	Pathogenic (Sep 28, 2021)	reviewed by expert panel FDA Recognized Database
Select item 44949065.	NM_004004.6(GJB2):c.110T>C (p.Val37Ala) GRCh37: Chr13:20763611 GRCh38: Chr13:20189472	GJB2	V37A	Nonsyndromic genetic hearing loss	Likely pathogenic (Jul 28, 2020)	reviewed by expert panel FDA Recognized Database
Select item 44948866.	NM_004004.6(GJB2):c.488T>C (p.Met163Thr) GRCh37: Chr13:20763233 GRCh38: Chr13:20189094	GJB2	M163T	Nonsyndromic genetic hearing loss	Uncertain significance (Apr 29, 2020)	reviewed by expert panel FDA Recognized Database
Select item 44745067.	NM_004004.6(GJB2):c.677T>G (p.Val226Gly) GRCh37: Chr13:20763044 GRCh38: Chr13:20188905	GJB2	V226G	Nonsyndromic genetic hearing loss	Uncertain significance (Sep 14, 2018)	reviewed by expert panel FDA Recognized Database
Select item 42998468.	NM_004004.6(GJB2):c.563A>G (p.Lys188Arg) GRCh37: Chr13:20763158 GRCh38: Chr13:20189019	GJB2	K188R	Nonsyndromic genetic hearing loss	Likely pathogenic (Oct 31, 2019)	reviewed by expert panel FDA Recognized Database
Select item 42485469.	NM_004004.6(GJB2):c.487A>C (p.Met163Leu) GRCh37: Chr13:20763234 GRCh38: Chr13:20189095	GJB2	M163L	Nonsyndromic genetic hearing loss	Uncertain significance (Aug 4, 2020)	criteria provided, single submitter
Select item 42481570.	NM_206933.2(USH2A):c.[240_241insGTAC];[3368A>G]			Nonsyndromic genetic hearing loss	Pathogenic (Feb 19, 2016)	no assertion criteria provided
Select item 42480971.	NM_194248.2(OTOF):c.[4227+1G>T];[5193-1G>A]			Autosomal recessive nonsyndromic hearing loss 9	Pathogenic (Feb 16, 2016)	no assertion criteria provided
Select item 42480872.	NM_144612.6(LOXHD1):c.[4480C>T];[4714C>T]			Autosomal recessive nonsyndromic hearing loss 77	Pathogenic (Feb 16, 2016)	no assertion criteria provided
Select item 42479073.	NM_194248.2(OTOF):c.[3928_3930dupAAG];[5098G>C]			Autosomal recessive nonsyndromic hearing loss 9	Likely pathogenic (Apr 16, 2013)	criteria provided, single submitter
Select item 42376674.	NM_016239.4(MYO15A):c.1111C>A (p.Pro371Thr) GRCh37: Chr17:18023225 GRCh38: Chr17:18119911	MYO15A	P371T	Nonsyndromic genetic hearing loss	Likely benign (May 13, 2021)	reviewed by expert panel FDA Recognized Database
Select item 42234575.	NM_022124.6(CDH23):c.8083G>A (p.Asp2695Asn) GRCh37: Chr10:73565943 GRCh38: Chr10:71806186	CDH23	D2695N, D455N	Nonsyndromic genetic hearing loss	Uncertain significance (Nov 26, 2019)	reviewed by expert panel FDA Recognized Database
Select item 37988976.	NM_004004.6(GJB2):c.23C>T (p.Thr8Met) GRCh37: Chr13:20763698 GRCh38: Chr13:20189559	GJB2	T8M	Nonsyndromic genetic hearing loss	Uncertain significance (Oct 31, 2022)	reviewed by expert panel FDA Recognized Database
Select item 37546377.	NM_022124.6(CDH23):c.478G>A (p.Asp160Asn) GRCh37: Chr10:73326547 GRCh38: Chr10:71566790	CDH23	D160N	Nonsyndromic genetic hearing loss	Uncertain significance (Dec 21, 2022)	reviewed by expert panel FDA Recognized Database
Select item 37540678.	NM_004004.6(GJB2):c.-22-2A>C GRCh37: Chr13:20763744 GRCh38: Chr13:20189605	GJB2		Nonsyndromic genetic hearing loss	Likely pathogenic (Apr 28, 2021)	reviewed by expert panel FDA Recognized Database
Select item 37178179.	NM_004004.6(GJB2):c.2T>C (p.Met1Thr) GRCh37: Chr13:20763719 GRCh38: Chr13:20189580	GJB2	M1T	Nonsyndromic genetic hearing loss	Likely pathogenic (Feb 19, 2020)	reviewed by expert panel FDA Recognized Database
Select item 37176680.	NM_004004.6(GJB2):c.59T>C (p.Ile20Thr) GRCh37: Chr13:20763662 GRCh38: Chr13:20189523	GJB2	I20T	Nonsyndromic genetic hearing loss, Autosomal dominant nonsyndromic hearing loss 3A, not provided, Autosomal recessive nonsyndromic hearing loss 1A	Pathogenic/Likely pathogenic (Oct 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 37170981.	NM_004004.6(GJB2):c.439G>A (p.Glu147Lys) GRCh37: Chr13:20763282 GRCh38: Chr13:20189143	GJB2	E147K	not provided, Rare genetic deafness, not specified, Nonsyndromic genetic hearing loss, Autosomal dominant nonsyndromic hearing loss 3A, Autosomal recessive nonsyndromic hearing loss 1A	Pathogenic/Likely pathogenic (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 28716582.	NM_005422.4(TECTA):c.4004G>A (p.Gly1335Glu) GRCh37: Chr11:121016724 GRCh38: Chr11:121146015	TBCEL-TECTA, TECTA	G1335E, G1654E	Nonsyndromic genetic hearing loss	Likely benign (Apr 8, 2021)	reviewed by expert panel FDA Recognized Database
Select item 28198183.	NM_004086.3(COCH):c.629+5C>T GRCh37: Chr14:31349945 GRCh38: Chr14:30880739	COCH, LOC100506071		Nonsyndromic genetic hearing loss	Benign (Feb 25, 2019)	reviewed by expert panel FDA Recognized Database
Select item 23604984.	NM_206933.4(USH2A):c.9685del (p.Glu3229fs) GRCh37: Chr1:215987132 GRCh38: Chr1:215813790	USH2A	E3229fs	Usher syndrome type 2A	Pathogenic (Aug 1, 2020)	criteria provided, single submitter
Select item 23604885.	NM_001039213.4(CEACAM16):c.703C>T (p.Arg235Cys) GRCh37: Chr19:45208901 GRCh38: Chr19:44705631	CEACAM16	R235C	Hearing loss, autosomal recessive 113, not provided	Conflicting interpretations of pathogenicity (Sep 1, 2022)	criteria provided, conflicting interpretations
Select item 22930486.	NM_005422.4(TECTA):c.487-7C>G GRCh37: Chr11:120983774 GRCh38: Chr11:121113065	TECTA, TBCEL-TECTA		Nonsyndromic genetic hearing loss	Likely benign (Oct 2, 2019)	reviewed by expert panel FDA Recognized Database
Select item 22881987.	NM_001384474.1(LOXHD1):c.2696G>C (p.Arg899Pro) GRCh37: Chr18:44140411 GRCh38: Chr18:46560448	LOXHD1	R899P	not specified, not provided, Autosomal recessive nonsyndromic hearing loss 77, Nonsyndromic genetic hearing loss	Conflicting interpretations of pathogenicity (Oct 31, 2022)	criteria provided, conflicting interpretations
Select item 22855588.	NM_004403.3(GSDME):c.119dup (p.Lys41fs) GRCh37: Chr7:24789274-24789275 GRCh38: Chr7:24749655-24749656	GSDME	K41fs	Nonsyndromic genetic hearing loss, not specified, not provided	Conflicting interpretations of pathogenicity (Sep 27, 2022)	criteria provided, conflicting interpretations
Select item 22850089.	NM_022124.6(CDH23):c.6866A>G (p.Asn2289Ser) GRCh37: Chr10:73558147 GRCh38: Chr10:71798390	CDH23	N2289S, N49S	Nonsyndromic genetic hearing loss	Uncertain significance (Dec 21, 2022)	reviewed by expert panel FDA Recognized Database
Select item 22848490.	NM_022124.6(CDH23):c.1515-12G>A GRCh37: Chr10:73437201 GRCh38: Chr10:71677444	CDH23		Usher syndrome	Uncertain significance (Nov 26, 2019)	reviewed by expert panel FDA Recognized Database
Select item 22829491.	NM_001039876.3(SYNE4):c.699G>A (p.Trp233Ter) GRCh37: Chr19:36497493 GRCh38: Chr19:36006591	SYNE4	W233, W120	Autosomal recessive nonsyndromic hearing loss 76, Nonsyndromic genetic hearing loss, not specified, not provided	Conflicting interpretations of pathogenicity (Jan 23, 2023)	criteria provided, conflicting interpretations
Select item 22746992.	NM_004700.4(KCNQ4):c.720C>G (p.Thr240=) GRCh37: Chr1:41285030 GRCh38: Chr1:40819358	KCNQ4		Nonsyndromic genetic hearing loss	Likely benign (Sep 28, 2018)	reviewed by expert panel FDA Recognized Database
Select item 22725893.	NM_004086.3(COCH):c.429A>G (p.Pro143=) GRCh37: Chr14:31348684 GRCh38: Chr14:30879478	COCH, LOC100506071		Nonsyndromic genetic hearing loss	Benign (Mar 25, 2019)	reviewed by expert panel FDA Recognized Database
Select item 22678094.	NM_016239.4(MYO15A):c.2238G>T (p.Arg746Ser) GRCh37: Chr17:18024352 GRCh38: Chr17:18121038	MYO15A	R746S	Nonsyndromic genetic hearing loss	Benign (Jun 15, 2021)	reviewed by expert panel FDA Recognized Database
Select item 22652995.	NM_004086.3(COCH):c.841G>A (p.Asp281Asn) GRCh37: Chr14:31354707 GRCh38: Chr14:30885501	COCH, LOC100506071	D281N, D346N	Nonsyndromic genetic hearing loss	Benign (Feb 25, 2019)	reviewed by expert panel FDA Recognized Database
Select item 22537596.	NM_004004.6(GJB2):c.583A>G (p.Met195Val) GRCh37: Chr13:20763138 GRCh38: Chr13:20188999	GJB2	M195V	Nonsyndromic genetic hearing loss	Likely pathogenic (Jul 15, 2020)	reviewed by expert panel FDA Recognized Database
Select item 20836697.	NM_004700.4(KCNQ4):c.803CCT[1] (p.Ser269del) GRCh37: Chr1:41285111-41285113 GRCh38: Chr1:40819439-40819441	KCNQ4	S269del	Nonsyndromic genetic hearing loss	Likely pathogenic (Nov 26, 2019)	reviewed by expert panel FDA Recognized Database
Select item 19222898.	NM_004004.6(GJB2):c.24G>A (p.Thr8=) GRCh37: Chr13:20763697 GRCh38: Chr13:20189558	GJB2		Autosomal recessive nonsyndromic hearing loss 1A, not provided, Nonsyndromic genetic hearing loss	Conflicting interpretations of pathogenicity (Jul 29, 2022)	criteria provided, conflicting interpretations
Select item 18915599.	NM_004004.6(GJB2):c.-23G>T GRCh37: Chr13:20766922 GRCh38: Chr13:20192783	GJB2		Autosomal recessive nonsyndromic hearing loss 1A, Nonsyndromic genetic hearing loss, Rare genetic deafness	Likely pathogenic (Jan 20, 2021)	criteria provided, multiple submitters, no conflicts
Select item 189051100.	NM_004004.6(GJB2):c.334_335del (p.Lys112fs) GRCh37: Chr13:20763386-20763387 GRCh38: Chr13:20189247-20189248	GJB2	K112fs	not provided, Autosomal recessive nonsyndromic hearing loss 1A, Mutilating keratoderma, Ichthyosis, hystrix-like, with hearing loss, X-linked mixed hearing loss with perilymphatic gusher, Autosomal recessive nonsyndromic hearing loss 1A, Autosomal dominant keratitis-ichthyosis-hearing loss syndrome, Palmoplantar keratoderma-deafness syndrome, Autosomal dominant nonsyndromic hearing loss 3A, Knuckle pads, deafness AND leukonychia syndrome, Nonsyndromic genetic hearing lossRare genetic deafness, Autosomal recessive nonsyndromic hearing loss 1A, ...see more	Pathogenic/Likely pathogenic (Oct 26, 2022)	criteria provided, multiple submitters, no conflicts

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