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 26271401.	NC_000015.9:g.(43893213_43893593)_(43897598_43900060)del GRCh37: Chr15:43893213-43900060	STRC		Nonsyndromic genetic hearing loss	Likely pathogenic (Sep 6, 2023)	criteria provided, single submitter
Select item 25826702.	NM_153700.2(STRC):c.1030C>T (p.Arg344Ter) GRCh37: Chr15:43908734 GRCh38: Chr15:43616536	STRC	R344*	Nonsyndromic genetic hearing loss	Pathogenic (Oct 5, 2023)	criteria provided, single submitter
Select item 25733463.	NC_000015.9:g.(?_43891760)_(43897598_43900060)del GRCh37: Chr15:43891760-43900060	STRC		Nonsyndromic genetic hearing loss	Likely pathogenic (Jun 22, 2023)	criteria provided, single submitter
Select item 25012874.	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 25010185.	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 24459096.	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 24458777.	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 24293218.	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 24291099.	NM_194248.3(OTOF):c.4748G>A (p.Arg1583His) GRCh37: Chr2:26688591 GRCh38: Chr2:26465723	OTOF	R1583H, R816H, R893H	Autosomal recessive nonsyndromic hearing loss 9	Likely pathogenic (Aug 3, 2022)	reviewed by expert panel FDA Recognized Database
Select item 207008510.	NM_004004.6(GJB2):c.3G>A (p.Met1Ile) GRCh37: Chr13:20763718 GRCh38: Chr13:20189579	GJB2	M1I	not provided	Pathogenic (Oct 28, 2022)	criteria provided, single submitter
Select item 198073611.	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 187509812.	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 179956713.	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 172340214.	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 172324715.	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 139754016.	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 132693317.	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 118580418.	NM_004004.6(GJB2):c.104T>G (p.Ile35Ser) GRCh37: Chr13:20763617 GRCh38: Chr13:20189478	GJB2	I35S	not provided, Nonsyndromic genetic hearing loss	Pathogenic/Likely pathogenic (Aug 29, 2023)	criteria provided, multiple submitters, no conflicts
Select item 118559519.	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 118559420.	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 118559221.	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 118559022.	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 118558923.	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 118558824.	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 118509825.	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 112012126.	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 107392927.	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 107145828.	NM_001384474.1(LOXHD1):c.2913dup (p.Glu972fs) GRCh37: Chr18:44140193-44140194 GRCh38: Chr18:46560230-46560231	LOXHD1	E972fs	Nonsyndromic genetic hearing loss, not provided	Pathogenic/Likely pathogenic (Mar 6, 2023)	criteria provided, multiple submitters, no conflicts
Select item 106974529.	NM_001384474.1(LOXHD1):c.4477G>T (p.Glu1493Ter) GRCh37: Chr18:44109193 GRCh38: Chr18:46529230	LOXHD1	E1493, E286, E382*	Nonsyndromic genetic hearing loss, not provided	Pathogenic (May 24, 2023)	criteria provided, multiple submitters, no conflicts
Select item 99592330.	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 97879031.	Single allele GRCh37: Chr13:20802727-21034768	CRYL1, GJB6		Nonsyndromic genetic hearing loss	Pathogenic (Aug 31, 2020)	criteria provided, single submitter
Select item 97878932.	Single allele GRCh37: Chr13:20797127-21105945	CRYL1, GJB6		Nonsyndromic genetic hearing loss	Pathogenic (Aug 31, 2020)	criteria provided, single submitter
Select item 97841833.	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 97841734.	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 97515535.	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 97515436.	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 97515337.	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 93013438.	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 93003339.	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 92994240.	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 89795541.	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 86910242.	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 86683743.	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 80434144.	NM_001039213.4(CEACAM16):c.1122dup (p.Ala375fs) GRCh37: Chr19:45211310-45211311 GRCh38: Chr19:44708038-44708039	CEACAM16, CEACAM16-AS1	A375fs	Nonsyndromic genetic hearing loss	Likely pathogenic (Jun 12, 2019)	criteria provided, single submitter
Select item 80270045.	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 66714146.	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 66699547.	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 64416248.	NM_004004.6(GJB2):c.576del (p.Val193fs) GRCh37: Chr13:20763145 GRCh38: Chr13:20189006	GJB2	V193fs	Nonsyndromic genetic hearing loss, not provided, Knuckle pads, deafness AND leukonychia syndrome, Autosomal recessive nonsyndromic hearing loss 1A, Autosomal dominant keratitis-ichthyosis-hearing loss syndrome, Palmoplantar keratoderma-deafness syndrome, Mutilating keratoderma, Ichthyosis, hystrix-like, with hearing loss, Autosomal dominant nonsyndromic hearing loss 3A, X-linked mixed hearing loss with perilymphatic gusher	Pathogenic/Likely pathogenic (Apr 18, 2023)	criteria provided, multiple submitters, no conflicts
Select item 63482149.	NM_194248.3(OTOF):c.2962TTC[1] (p.Phe989del) GRCh37: Chr2:26698806-26698808 GRCh38: Chr2:26475938-26475940	OTOF	F242del, F989del, F299del	Autosomal recessive nonsyndromic hearing loss 9, Nonsyndromic genetic hearing loss	Conflicting interpretations of pathogenicity (Aug 9, 2023)	criteria provided, conflicting interpretations
Select item 63227150.	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 63185651.	NM_194248.3(OTOF):c.149G>A (p.Trp50Ter) GRCh37: Chr2:26750778 GRCh38: Chr2:26527910	OTOF	W50*	Nonsyndromic genetic hearing loss, not provided, Autosomal recessive nonsyndromic hearing loss 9	Conflicting interpretations of pathogenicity (Apr 12, 2023)	criteria provided, conflicting interpretations
Select item 63169752.	NM_004004.6(GJB2):c.257C>G (p.Thr86Arg) GRCh37: Chr13:20763464 GRCh38: Chr13:20189325	GJB2	T86R	Autosomal recessive nonsyndromic hearing loss 1A, Autosomal dominant nonsyndromic hearing loss 3A, not provided, Nonsyndromic genetic hearing loss, Ichthyosis, hystrix-like, with hearing loss	Conflicting interpretations of pathogenicity (Jun 20, 2023)	criteria provided, conflicting interpretations
Select item 62334753.	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 61767554.	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 59079955.	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 58532756.	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 58532257.	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 55572058.	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 55513859.	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 55356860.	NM_004004.6(GJB2):c.232dup (p.Ala78fs) GRCh37: Chr13:20763488-20763489 GRCh38: Chr13:20189349-20189350	GJB2	A78fs	Nonsyndromic genetic hearing loss, not provided, Autosomal recessive nonsyndromic hearing loss 1A	Pathogenic/Likely pathogenic (Mar 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 55096161.	NM_004004.6(GJB2):c.533T>C (p.Val178Ala) GRCh37: Chr13:20763188 GRCh38: Chr13:20189049	GJB2	V178A	Nonsyndromic genetic hearing loss, not provided, Autosomal recessive nonsyndromic hearing loss 1A	Pathogenic/Likely pathogenic (Aug 25, 2023)	criteria provided, multiple submitters, no conflicts
Select item 52393762.	NM_004999.4(MYO6):c.2751dup (p.Gln918fs) GRCh37: Chr6:76599857-76599858 GRCh38: Chr6:75890140-75890141	MYO6	Q918fs, Q913fs	Nonsyndromic genetic hearing loss	Likely pathogenic (Jul 25, 2023)	reviewed by expert panel FDA Recognized Database
Select item 51750763.	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 51735764.	NM_000260.4(MYO7A):c.1817G>A (p.Arg606His) GRCh37: Chr11:76883813 GRCh38: Chr11:77172767	MYO7A	R606H, R595H	Nonsyndromic genetic hearing loss	Uncertain significance (Jul 19, 2023)	reviewed by expert panel FDA Recognized Database
Select item 50533065.	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 50530266.	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 50518567.	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 50463068.	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 50462969.	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 50006170.	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 49951371.	NM_004004.6(GJB2):c.95G>T (p.Arg32Leu) GRCh37: Chr13:20763626 GRCh38: Chr13:20189487	GJB2	R32L	Autosomal dominant keratitis-ichthyosis-hearing loss syndrome, Palmoplantar keratoderma-deafness syndrome, Ichthyosis, hystrix-like, with hearing loss, Mutilating keratoderma, Knuckle pads, deafness AND leukonychia syndrome, Autosomal dominant nonsyndromic hearing loss 3A, X-linked mixed hearing loss with perilymphatic gusher, Autosomal recessive nonsyndromic hearing loss 1A, Nonsyndromic genetic hearing loss, not provided	Pathogenic/Likely pathogenic (Oct 3, 2023)	criteria provided, multiple submitters, no conflicts
Select item 49853872.	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 44952673.	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 44949074.	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 44948875.	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 44745076.	NM_004004.6(GJB2):c.677T>G (p.Val226Gly) GRCh37: Chr13:20763044 GRCh38: Chr13:20188905	GJB2	V226G	Nonsyndromic genetic hearing loss	Uncertain significance (Sep 26, 2023)	reviewed by expert panel FDA Recognized Database
Select item 44644677.	NM_022124.6(CDH23):c.6085C>T (p.Arg2029Trp) GRCh37: Chr10:73550924 GRCh38: Chr10:71791167	CDH23	R2029W	Nonsyndromic genetic hearing loss	Pathogenic (Jun 26, 2023)	reviewed by expert panel FDA Recognized Database
Select item 42998478.	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 42485479.	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 42481780.	NM_153700.2(STRC):c.[4057C>T];[4171C>G]			Autosomal dominant nonsyndromic hearing loss 16	Pathogenic (Feb 19, 2016)	no assertion criteria provided
Select item 42481581.	NM_206933.2(USH2A):c.[240_241insGTAC];[3368A>G]			Nonsyndromic genetic hearing loss	Pathogenic (Feb 19, 2016)	no assertion criteria provided
Select item 42480982.	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 42480883.	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 42479084.	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 42376685.	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 42234586.	NM_022124.6(CDH23):c.8083G>A (p.Asp2695Asn) GRCh37: Chr10:73565943 GRCh38: Chr10:71806186	CDH23	D2695N, D455N	Nonsyndromic genetic hearing loss	Uncertain significance (Jun 26, 2023)	reviewed by expert panel FDA Recognized Database
Select item 37988987.	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 37546388.	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 37540689.	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 37178190.	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 37176691.	NM_004004.6(GJB2):c.59T>C (p.Ile20Thr) GRCh37: Chr13:20763662 GRCh38: Chr13:20189523	GJB2	I20T	Nonsyndromic genetic hearing loss, not provided, Autosomal dominant nonsyndromic hearing loss 3A, Autosomal recessive nonsyndromic hearing loss 1A	Pathogenic/Likely pathogenic (Oct 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 37170992.	NM_004004.6(GJB2):c.439G>A (p.Glu147Lys) GRCh37: Chr13:20763282 GRCh38: Chr13:20189143	GJB2	E147K	Rare genetic deafness, not specified, Nonsyndromic genetic hearing loss, Autosomal recessive nonsyndromic hearing loss 1A, not provided, Autosomal dominant nonsyndromic hearing loss 3A	Pathogenic/Likely pathogenic (Jul 18, 2023)	criteria provided, multiple submitters, no conflicts
Select item 28716593.	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 28198194.	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 23604995.	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 23604896.	NM_001039213.4(CEACAM16):c.703C>T (p.Arg235Cys) GRCh37: Chr19:45208901 GRCh38: Chr19:44705631	CEACAM16, CEACAM16-AS1	R235C	not provided, Hearing loss, autosomal recessive 113	Conflicting interpretations of pathogenicity (Sep 1, 2022)	criteria provided, conflicting interpretations
Select item 22930497.	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 22881998.	NM_001384474.1(LOXHD1):c.2696G>C (p.Arg899Pro) GRCh37: Chr18:44140411 GRCh38: Chr18:46560448	LOXHD1	R899P	Autosomal recessive nonsyndromic hearing loss 77, not specified, Nonsyndromic genetic hearing loss, not provided	Conflicting interpretations of pathogenicity (Sep 22, 2023)	criteria provided, conflicting interpretations
Select item 22855599.	NM_004403.3(GSDME):c.119dup (p.Lys41fs) GRCh37: Chr7:24789274-24789275 GRCh38: Chr7:24749655-24749656	GSDME	K41fs	Nonsyndromic genetic hearing loss, not provided, not specified	Conflicting interpretations of pathogenicity (Sep 27, 2022)	criteria provided, conflicting interpretations
Select item 228500100.	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

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