ClinVar for MedGen (Select 331376) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24345241.	NM_194248.3(OTOF):c.1538A>G (p.His513Arg) GRCh37: Chr2:26705315 GRCh38: Chr2:26482447	OTOF	H513R	Autosomal recessive nonsyndromic hearing loss 9	Uncertain significance (Aug 29, 2019)	criteria provided, single submitter
Select item 24345232.	NM_194248.3(OTOF):c.5864G>A (p.Arg1955His) GRCh37: Chr2:26683023 GRCh38: Chr2:26460155	OTOF	R1188H, R1265H, R1955H	Autosomal recessive nonsyndromic hearing loss 9	Uncertain significance (Feb 7, 2019)	criteria provided, single submitter
Select item 24291093.	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 18061494.	NM_194248.3(OTOF):c.1126G>A (p.Asp376Asn) GRCh37: Chr2:26707421 GRCh38: Chr2:26484553	OTOF	D376N	Autosomal recessive nonsyndromic hearing loss 9	Uncertain significance (Aug 28, 2019)	criteria provided, single submitter
Select item 18061465.	NM_194248.3(OTOF):c.3017C>G (p.Thr1006Ser) GRCh37: Chr2:26698336 GRCh38: Chr2:26475468	OTOF	T1006S, T259S, T316S	Autosomal recessive nonsyndromic hearing loss 9	Uncertain significance (Aug 28, 2019)	criteria provided, single submitter
Select item 18057326.	NM_194248.3(OTOF):c.1954C>T (p.Arg652Trp) GRCh37: Chr2:26702480 GRCh38: Chr2:26479612	OTOF	R652W	not provided, Autosomal recessive nonsyndromic hearing loss 9	Uncertain significance (May 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 17995527.	NM_194248.3(OTOF):c.2656del (p.Val886fs) GRCh37: Chr2:26699779 GRCh38: Chr2:26476911	OTOF	V196fs, V139fs, V886fs	Autosomal recessive nonsyndromic hearing loss 9	Likely pathogenic (Nov 10, 2022)	criteria provided, single submitter
Select item 17995308.	NM_194248.3(OTOF):c.3192C>G (p.Tyr1064Ter) GRCh37: Chr2:26697477 GRCh38: Chr2:26474609	OTOF	Y1064, Y374, Y317*	Autosomal recessive nonsyndromic hearing loss 9	Pathogenic (Nov 10, 2022)	criteria provided, single submitter
Select item 17995299.	NM_194248.3(OTOF):c.2214+5G>C GRCh37: Chr2:26702127 GRCh38: Chr2:26479259	OTOF		Autosomal recessive nonsyndromic hearing loss 9	Likely pathogenic (Nov 10, 2022)	criteria provided, single submitter
Select item 179952810.	NM_194248.3(OTOF):c.4903A>T (p.Arg1635Ter) GRCh37: Chr2:26687794 GRCh38: Chr2:26464926	OTOF	R945, R1635, R868*	Autosomal recessive nonsyndromic hearing loss 9	Likely pathogenic (Nov 10, 2022)	criteria provided, single submitter
Select item 179952711.	NM_194248.3(OTOF):c.5169_5170del (p.Ile1724fs) GRCh37: Chr2:26686373-26686374 GRCh38: Chr2:26463505-26463506	LOC112840921, OTOF	I1724fs, I957fs, I1034fs	Autosomal recessive nonsyndromic hearing loss 9	Likely pathogenic (Nov 10, 2022)	criteria provided, single submitter
Select item 170305112.	NM_194248.3(OTOF):c.2215-1G>C GRCh37: Chr2:26700618 GRCh38: Chr2:26477750	OTOF	Q48H	Autosomal recessive nonsyndromic hearing loss 9	Likely pathogenic (Jul 21, 2022)	reviewed by expert panel FDA Recognized Database
Select item 170305013.	NM_194248.3(OTOF):c.4110_4120dup (p.Lys1374fs) GRCh37: Chr2:26690339-26690340 GRCh38: Chr2:26467471-26467472	OTOF	K1374fs, K607fs, K684fs	Autosomal recessive nonsyndromic hearing loss 9	Pathogenic	no assertion criteria provided
Select item 170304914.	NM_194248.3(OTOF):c.1432T>C (p.Trp478Arg) GRCh37: Chr2:26705421 GRCh38: Chr2:26482553	OTOF	W478R	Autosomal recessive nonsyndromic hearing loss 9	Likely pathogenic	no assertion criteria provided
Select item 170304815.	NM_194248.3(OTOF):c.764A>C (p.Gln255Pro) GRCh37: Chr2:26724623 GRCh38: Chr2:26501755	OTOF	Q255P	Autosomal recessive nonsyndromic hearing loss 9	Likely pathogenic	no assertion criteria provided
Select item 170304716.	NM_194248.3(OTOF):c.3592dup (p.Leu1198fs) GRCh37: Chr2:26696140-26696141 GRCh38: Chr2:26473272-26473273	OTOF	L1198fs, L451fs, L508fs	Autosomal recessive nonsyndromic hearing loss 9	Pathogenic	no assertion criteria provided
Select item 170304617.	NM_194248.3(OTOF):c.3674C>G (p.Ser1225Cys) GRCh37: Chr2:26696059 GRCh38: Chr2:26473191	OTOF	S1225C, S478C, S535C	Autosomal recessive nonsyndromic hearing loss 9	Likely pathogenic	no assertion criteria provided
Select item 170304518.	NM_194248.3(OTOF):c.5833del (p.Ile1945fs) GRCh37: Chr2:26683054 GRCh38: Chr2:26460186	OTOF	I1178fs, I1255fs, I1945fs	Autosomal recessive nonsyndromic hearing loss 9	Pathogenic	no assertion criteria provided
Select item 170304419.	NM_194248.3(OTOF):c.2407-2del GRCh37: Chr2:26700158 GRCh38: Chr2:26477290	OTOF		Autosomal recessive nonsyndromic hearing loss 9	Pathogenic	no assertion criteria provided
Select item 170304020.	NM_194248.3(OTOF):c.4493T>A (p.Val1498Glu) GRCh37: Chr2:26689589 GRCh38: Chr2:26466721	OTOF	V1498E, V731E, V808E	Autosomal recessive nonsyndromic hearing loss 9	Likely pathogenic	no assertion criteria provided
Select item 169948721.	NM_194248.3(OTOF):c.4885del (p.His1629fs) GRCh37: Chr2:26687812 GRCh38: Chr2:26464944	OTOF	H1629fs, H862fs, H939fs	Autosomal recessive nonsyndromic hearing loss 9	Pathogenic (Feb 2, 2022)	criteria provided, single submitter
Select item 169938822.	NM_194248.3(OTOF):c.4423G>A (p.Asp1475Asn) GRCh37: Chr2:26689659 GRCh38: Chr2:26466791	OTOF	D1475N, D708N, D785N	not provided, Autosomal recessive nonsyndromic hearing loss 9	Uncertain significance (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 167864223.	NM_194248.3(OTOF):c.4655C>T (p.Pro1552Leu) GRCh37: Chr2:26688684 GRCh38: Chr2:26465816	OTOF	P1552L, P785L, P862L	Autosomal recessive nonsyndromic hearing loss 9	Uncertain significance (Nov 30, 2020)	criteria provided, single submitter
Select item 167728224.	NM_194248.3(OTOF):c.2406+4A>G GRCh37: Chr2:26700280 GRCh38: Chr2:26477412	OTOF		Autosomal recessive nonsyndromic hearing loss 9	Pathogenic	no assertion criteria provided
Select item 149750625.	NM_194248.3(OTOF):c.5903A>G (p.Lys1968Arg) GRCh37: Chr2:26682984 GRCh38: Chr2:26460116	OTOF	K1278R, K1968R, K1201R	Autosomal recessive nonsyndromic hearing loss 9, not provided	Uncertain significance (Sep 23, 2021)	criteria provided, multiple submitters, no conflicts
Select item 133343926.	NM_194248.3(OTOF):c.1696C>T (p.Arg566Trp) GRCh37: Chr2:26703761 GRCh38: Chr2:26480893	OTOF	R566W	Autosomal recessive nonsyndromic hearing loss 9	Uncertain significance (Jan 3, 2022)	criteria provided, single submitter
Select item 133333227.	NM_194248.3(OTOF):c.3179_3183dup (p.Glu1062fs) GRCh37: Chr2:26697485-26697486 GRCh38: Chr2:26474617-26474618	OTOF	E1062fs, E315fs, E372fs	Autosomal recessive nonsyndromic hearing loss 9	Likely pathogenic (Jan 3, 2022)	criteria provided, single submitter
Select item 132697728.	NM_194248.3(OTOF):c.62C>T (p.Ala21Val) GRCh37: Chr2:26781378 GRCh38: Chr2:26558510	OTOF	A21V	Autosomal recessive nonsyndromic hearing loss 9	Benign (Sep 5, 2021)	criteria provided, single submitter
Select item 128065829.	NM_194248.3(OTOF):c.509+39A>T GRCh37: Chr2:26739247 GRCh38: Chr2:26516379	OTOF		Autosomal recessive nonsyndromic hearing loss 9, not provided	Benign (Sep 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 127489330.	NM_194248.3(OTOF):c.711-49A>C GRCh37: Chr2:26724725 GRCh38: Chr2:26501857	OTOF		Autosomal recessive nonsyndromic hearing loss 9, not provided	Benign (Sep 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 127225631.	NM_194248.3(OTOF):c.510-39C>T GRCh37: Chr2:26726752 GRCh38: Chr2:26503884	OTOF		not provided, Autosomal recessive nonsyndromic hearing loss 9	Benign (Sep 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 120258232.	NM_194248.3(OTOF):c.4882C>A (p.Pro1628Thr) GRCh37: Chr2:26687815 GRCh38: Chr2:26464947	OTOF	P1628T, P861T, P938T	Autosomal recessive nonsyndromic hearing loss 9	Pathogenic (Aug 16, 2021)	criteria provided, single submitter
Select item 118568233.	NM_194248.3(OTOF):c.5108_5114delinsTCTTCCTGGG (p.Arg1703_Glu1705delinsLeuPheLeuGly) GRCh37: Chr2:26686429-26686435 GRCh38: Chr2:26463561-26463567	LOC112840921, OTOF		Autosomal recessive nonsyndromic hearing loss 9	Likely pathogenic	no assertion criteria provided
Select item 118565134.	NM_194248.3(OTOF):c.1962dup (p.Pro655fs) GRCh37: Chr2:26702471-26702472 GRCh38: Chr2:26479603-26479604	OTOF	P655fs	Autosomal recessive nonsyndromic hearing loss 9	Pathogenic	no assertion criteria provided
Select item 118565035.	NM_194248.3(OTOF):c.1912+5G>C GRCh37: Chr2:26703066 GRCh38: Chr2:26480198	OTOF		Autosomal recessive nonsyndromic hearing loss 9	Likely pathogenic	no assertion criteria provided
Select item 118563136.	NM_194248.3(OTOF):c.5360G>A (p.Gly1787Asp) GRCh37: Chr2:26684737 GRCh38: Chr2:26461869	OTOF	G1020D, G1097D, G1787D	Autosomal recessive nonsyndromic hearing loss 9	Likely pathogenic	no assertion criteria provided
Select item 118562737.	NM_194248.3(OTOF):c.1364_1366delinsTTGC (p.Tyr455fs) GRCh37: Chr2:26706356-26706358 GRCh38: Chr2:26483488-26483490	OTOF	Y455fs	Autosomal recessive nonsyndromic hearing loss 9	Pathogenic	no assertion criteria provided
Select item 118562238.	NM_194248.3(OTOF):c.5209ATC[1] (p.Ile1738del) GRCh37: Chr2:26685028-26685030 GRCh38: Chr2:26462160-26462162	OTOF	I1048del, I1738del, I971del	Autosomal recessive nonsyndromic hearing loss 9	Pathogenic	no assertion criteria provided
Select item 118562139.	NM_194248.3(OTOF):c.5570G>A (p.Gly1857Asp) GRCh37: Chr2:26683862 GRCh38: Chr2:26460994	OTOF	G1090D, G1167D, G1857D	Autosomal recessive nonsyndromic hearing loss 9	Likely pathogenic	no assertion criteria provided
Select item 118557840.	NM_194248.3(OTOF):c.3049G>T (p.Glu1017Ter) GRCh37: Chr2:26698304 GRCh38: Chr2:26475436	OTOF	E1017, E270, E327*	Autosomal recessive nonsyndromic hearing loss 9, Bilateral sensorineural hearing impairment	Pathogenic	criteria provided, multiple submitters, no conflicts
Select item 118557741.	NM_194248.3(OTOF):c.5785A>C (p.Asn1929His) GRCh37: Chr2:26683543 GRCh38: Chr2:26460675	OTOF	N1162H, N1239H, N1929H	not provided, Bilateral sensorineural hearing impairment, Autosomal recessive nonsyndromic hearing loss 9	Uncertain significance (Aug 18, 2021)	criteria provided, multiple submitters, no conflicts
Select item 118511042.	NM_194248.3(OTOF):c.5109_5110insTTC (p.Arg1703_Leu1704insPhe) GRCh37: Chr2:26686433-26686434 GRCh38: Chr2:26463565-26463566	OTOF, LOC112840921		Autosomal recessive nonsyndromic hearing loss 9	Uncertain significance (Jul 1, 2021)	no assertion criteria provided
Select item 118510943.	NM_194248.3(OTOF):c.5108G>T (p.Arg1703Leu) GRCh37: Chr2:26686435 GRCh38: Chr2:26463567	LOC112840921, OTOF	R1013L, R1703L, R936L	Autosomal recessive nonsyndromic hearing loss 9	Uncertain significance (Jul 1, 2021)	no assertion criteria provided
Select item 118510644.	NM_194248.3(OTOF):c.2676G>A (p.Lys892=) GRCh37: Chr2:26699759 GRCh38: Chr2:26476891	OTOF		Autosomal recessive nonsyndromic hearing loss 9	Uncertain significance (Jul 1, 2021)	no assertion criteria provided
Select item 118510545.	NM_194248.3(OTOF):c.3260A>T (p.Asp1087Val) GRCh37: Chr2:26697409 GRCh38: Chr2:26474541	OTOF	D1087V, D340V, D397V	Autosomal recessive nonsyndromic hearing loss 9	Uncertain significance (Jul 1, 2021)	no assertion criteria provided
Select item 118510446.	NM_194248.3(OTOF):c.669del (p.Ala224fs) GRCh37: Chr2:26725209 GRCh38: Chr2:26502341	OTOF	A224fs	Autosomal recessive nonsyndromic hearing loss 9	Likely pathogenic (Jul 1, 2021)	no assertion criteria provided
Select item 118510147.	NM_194248.3(OTOF):c.2610_2615dup (p.Leu870_Leu871dup) GRCh37: Chr2:26699819-26699820 GRCh38: Chr2:26476951-26476952	OTOF		Autosomal recessive nonsyndromic hearing loss 9	Likely pathogenic (Jul 1, 2021)	no assertion criteria provided
Select item 118510048.	NM_194248.3(OTOF):c.2406+2dup GRCh37: Chr2:26700281-26700282 GRCh38: Chr2:26477413-26477414	OTOF		Autosomal recessive nonsyndromic hearing loss 9	Uncertain significance (Jul 1, 2021)	no assertion criteria provided
Select item 118509949.	NM_194248.3(OTOF):c.5104-1G>T GRCh37: Chr2:26686440 GRCh38: Chr2:26463572	LOC112840921, OTOF		Autosomal recessive nonsyndromic hearing loss 9	Likely pathogenic (Jul 1, 2021)	no assertion criteria provided
Select item 118508250.	NM_194248.3(OTOF):c.2985C>A (p.Cys995Ter) GRCh37: Chr2:26698788 GRCh38: Chr2:26475920	OTOF	C248, C305, C995*	Autosomal recessive nonsyndromic hearing loss 9	Pathogenic (Jul 1, 2021)	no assertion criteria provided
Select item 118508151.	NM_194248.3(OTOF):c.2867-5_2881del GRCh37: Chr2:26698892-26698911 GRCh38: Chr2:26476024-26476043	OTOF		Autosomal recessive nonsyndromic hearing loss 9	Pathogenic (Jul 1, 2021)	no assertion criteria provided
Select item 118506852.	NM_194248.3(OTOF):c.1804-2A>G GRCh37: Chr2:26703181 GRCh38: Chr2:26480313	OTOF		Autosomal recessive nonsyndromic hearing loss 9	Likely pathogenic (Jul 1, 2021)	no assertion criteria provided
Select item 103044753.	NM_194248.3(OTOF):c.3013C>G (p.Pro1005Ala) GRCh37: Chr2:26698340 GRCh38: Chr2:26475472	OTOF	P1005A, P258A, P315A	Autosomal recessive nonsyndromic hearing loss 9	Uncertain significance (Aug 7, 2020)	criteria provided, single submitter
Select item 98322454.	NM_194248.3(OTOF):c.5179del (p.Arg1727fs) GRCh37: Chr2:26686364 GRCh38: Chr2:26463496	LOC112840921, OTOF	R1037fs, R1727fs, R960fs	Autosomal recessive nonsyndromic hearing loss 9	Likely pathogenic (Oct 15, 2020)	criteria provided, single submitter
Select item 98107255.	NM_194248.3(OTOF):c.5534-2A>G GRCh37: Chr2:26683900 GRCh38: Chr2:26461032	OTOF		Autosomal recessive nonsyndromic hearing loss 9	Likely pathogenic (Sep 29, 2020)	criteria provided, single submitter
Select item 97792156.	NM_194248.3(OTOF):c.5788G>T (p.Glu1930Ter) GRCh37: Chr2:26683540 GRCh38: Chr2:26460672	OTOF	E1163, E1240, E1930*	Autosomal recessive nonsyndromic hearing loss 9	Pathogenic (Jun 11, 2020)	criteria provided, single submitter
Select item 91601757.	NM_194323.3(OTOF):c.3691T>C (p.Ter1231Arg) GRCh37: Chr2:26680910 GRCh38: Chr2:26458042	OTOF		Autosomal recessive nonsyndromic hearing loss 9	Pathogenic (Jul 1, 2017)	no assertion criteria provided
Select item 89932558.	NM_194248.3(OTOF):c.494A>T (p.Glu165Val) GRCh37: Chr2:26739301 GRCh38: Chr2:26516433	OTOF	E165V	Autosomal recessive nonsyndromic hearing loss 9	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89932459.	NM_194248.3(OTOF):c.510-9C>A GRCh37: Chr2:26726722 GRCh38: Chr2:26503854	OTOF		Autosomal recessive nonsyndromic hearing loss 9	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89926760.	NM_194248.3(OTOF):c.1489G>A (p.Val497Met) GRCh37: Chr2:26705364 GRCh38: Chr2:26482496	OTOF	V497M	Autosomal recessive nonsyndromic hearing loss 9	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 89926661.	NM_194248.3(OTOF):c.1579+9C>T GRCh37: Chr2:26705265 GRCh38: Chr2:26482397	OTOF		Autosomal recessive nonsyndromic hearing loss 9	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89921362.	NM_194248.3(OTOF):c.2615T>C (p.Phe872Ser) GRCh37: Chr2:26699820 GRCh38: Chr2:26476952	OTOF	F125S, F182S, F872S	not provided, Autosomal recessive nonsyndromic hearing loss 9	Uncertain significance (Apr 24, 2023)	criteria provided, multiple submitters, no conflicts
Select item 89914663.	NM_194248.3(OTOF):c.3662A>G (p.His1221Arg) GRCh37: Chr2:26696071 GRCh38: Chr2:26473203	OTOF	H1221R, H474R, H531R	Autosomal recessive nonsyndromic hearing loss 9	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89914564.	NM_194248.3(OTOF):c.3746G>A (p.Arg1249Gln) GRCh37: Chr2:26695505 GRCh38: Chr2:26472637	OTOF	R1249Q, R559Q	not provided, Autosomal recessive nonsyndromic hearing loss 9	Uncertain significance (Mar 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 89909165.	NM_194248.3(OTOF):c.5040C>T (p.Arg1680=) GRCh37: Chr2:26686895 GRCh38: Chr2:26464027	LOC112840921, OTOF		Autosomal recessive nonsyndromic hearing loss 9	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89902866.	NM_194248.3(OTOF):c.*348G>T GRCh37: Chr2:26680758 GRCh38: Chr2:26457890	OTOF		not provided, Autosomal recessive nonsyndromic hearing loss 9	Conflicting interpretations of pathogenicity (Dec 22, 2018)	criteria provided, conflicting interpretations
Select item 89902767.	NM_194248.3(OTOF):c.*474C>T GRCh37: Chr2:26680632 GRCh38: Chr2:26457764	OTOF		Autosomal recessive nonsyndromic hearing loss 9	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89902668.	NM_194248.3(OTOF):c.*610C>T GRCh37: Chr2:26680496 GRCh38: Chr2:26457628	OTOF		Autosomal recessive nonsyndromic hearing loss 9	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89828869.	NM_194248.3(OTOF):c.-89C>T GRCh37: Chr2:26781528 GRCh38: Chr2:26558660	OTOF		Autosomal recessive nonsyndromic hearing loss 9	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89822170.	NM_194248.3(OTOF):c.654C>T (p.Pro218=) GRCh37: Chr2:26725224 GRCh38: Chr2:26502356	OTOF		not provided, Autosomal recessive nonsyndromic hearing loss 9	Conflicting interpretations of pathogenicity (Aug 21, 2022)	criteria provided, conflicting interpretations
Select item 89822071.	NM_194248.3(OTOF):c.660G>A (p.Ser220=) GRCh37: Chr2:26725218 GRCh38: Chr2:26502350	OTOF		Autosomal recessive nonsyndromic hearing loss 9	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89821972.	NM_194248.3(OTOF):c.731T>C (p.Met244Thr) GRCh37: Chr2:26724656 GRCh38: Chr2:26501788	OTOF	M244T	Autosomal recessive nonsyndromic hearing loss 9	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89816473.	NM_194248.3(OTOF):c.2029G>C (p.Gly677Arg) GRCh37: Chr2:26702405 GRCh38: Chr2:26479537	OTOF	G677R	Autosomal recessive nonsyndromic hearing loss 9	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89809274.	NM_194248.3(OTOF):c.2750G>A (p.Gly917Asp) GRCh37: Chr2:26699112 GRCh38: Chr2:26476244	OTOF	G917D, G227D, G170D	Autosomal recessive nonsyndromic hearing loss 9	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89803175.	NM_194248.3(OTOF):c.4195G>A (p.Glu1399Lys) GRCh37: Chr2:26690265 GRCh38: Chr2:26467397	OTOF	E709K, E1399K, E632K	Autosomal recessive nonsyndromic hearing loss 9	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89795776.	NM_194248.3(OTOF):c.5245G>T (p.Asp1749Tyr) GRCh37: Chr2:26684997 GRCh38: Chr2:26462129	OTOF	D982Y, D1059Y, D1749Y	Inborn genetic diseases, Autosomal recessive nonsyndromic hearing loss 9	Uncertain significance (Jun 21, 2021)	criteria provided, multiple submitters, no conflicts
Select item 89795677.	NM_194248.3(OTOF):c.5403G>A (p.Ala1801=) GRCh37: Chr2:26684694 GRCh38: Chr2:26461826	OTOF		not provided, Autosomal recessive nonsyndromic hearing loss 9	Conflicting interpretations of pathogenicity (Nov 2, 2021)	criteria provided, conflicting interpretations
Select item 89795578.	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 89788979.	NM_194248.3(OTOF):c.*714A>T GRCh37: Chr2:26680392 GRCh38: Chr2:26457524	OTOF		Autosomal recessive nonsyndromic hearing loss 9	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89788880.	NM_194248.3(OTOF):c.*769G>C GRCh37: Chr2:26680337 GRCh38: Chr2:26457469	OTOF		Autosomal recessive nonsyndromic hearing loss 9	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89788781.	NM_194248.3(OTOF):c.*812C>T GRCh37: Chr2:26680294 GRCh38: Chr2:26457426	OTOF		Autosomal recessive nonsyndromic hearing loss 9	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89788682.	NM_194248.3(OTOF):c.*936G>A GRCh37: Chr2:26680170 GRCh38: Chr2:26457302	OTOF		Autosomal recessive nonsyndromic hearing loss 9	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89712583.	NM_194248.3(OTOF):c.21C>A (p.Leu7=) GRCh37: Chr2:26781419 GRCh38: Chr2:26558551	OTOF		Autosomal recessive nonsyndromic hearing loss 9	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89659584.	NM_194248.3(OTOF):c.783C>T (p.Ile261=) GRCh37: Chr2:26717924 GRCh38: Chr2:26495056	OTOF		Autosomal recessive nonsyndromic hearing loss 9	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89659485.	NM_194248.3(OTOF):c.1100C>T (p.Ser367Leu) GRCh37: Chr2:26707447 GRCh38: Chr2:26484579	OTOF	S367L	Autosomal recessive nonsyndromic hearing loss 9	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89659386.	NM_194248.3(OTOF):c.1117G>A (p.Val373Met) GRCh37: Chr2:26707430 GRCh38: Chr2:26484562	OTOF	V373M	Autosomal recessive nonsyndromic hearing loss 9	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89646487.	NM_194248.3(OTOF):c.2871G>A (p.Lys957=) GRCh37: Chr2:26698902 GRCh38: Chr2:26476034	OTOF		Autosomal recessive nonsyndromic hearing loss 9	Uncertain significance (Jan 15, 2018)	criteria provided, single submitter
Select item 89646388.	NM_194248.3(OTOF):c.2928C>T (p.Asp976=) GRCh37: Chr2:26698845 GRCh38: Chr2:26475977	OTOF		Autosomal recessive nonsyndromic hearing loss 9	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89646289.	NM_194248.3(OTOF):c.3127-5G>A GRCh37: Chr2:26697547 GRCh38: Chr2:26474679	OTOF		Autosomal recessive nonsyndromic hearing loss 9, not provided	Conflicting interpretations of pathogenicity (Aug 4, 2022)	criteria provided, conflicting interpretations
Select item 89640190.	NM_194248.3(OTOF):c.4375G>A (p.Val1459Met) GRCh37: Chr2:26689707 GRCh38: Chr2:26466839	OTOF	V1459M, V692M, V769M	Autosomal recessive nonsyndromic hearing loss 9, not provided	Uncertain significance (Aug 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 89640091.	NM_194248.3(OTOF):c.4377G>T (p.Val1459=) GRCh37: Chr2:26689705 GRCh38: Chr2:26466837	OTOF		Autosomal recessive nonsyndromic hearing loss 9	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89639992.	NM_194248.3(OTOF):c.4509C>A (p.Asp1503Glu) GRCh37: Chr2:26688936 GRCh38: Chr2:26466068	OTOF	D1503E, D736E, D813E	Autosomal recessive nonsyndromic hearing loss 9	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89639893.	NM_194248.3(OTOF):c.4581C>T (p.Arg1527=) GRCh37: Chr2:26688864 GRCh38: Chr2:26465996	OTOF		Autosomal recessive nonsyndromic hearing loss 9	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89639794.	NM_194248.3(OTOF):c.4628+5G>C GRCh37: Chr2:26688812 GRCh38: Chr2:26465944	OTOF		Autosomal recessive nonsyndromic hearing loss 9	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89633895.	NM_194248.3(OTOF):c.5537C>G (p.Ala1846Gly) GRCh37: Chr2:26683895 GRCh38: Chr2:26461027	OTOF	A1079G, A1156G, A1846G	Autosomal recessive nonsyndromic hearing loss 9	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89517396.	NM_194248.3(OTOF):c.1135G>A (p.Val379Met) GRCh37: Chr2:26707412 GRCh38: Chr2:26484544	OTOF	V379M	not provided, Autosomal recessive nonsyndromic hearing loss 9	Conflicting interpretations of pathogenicity (Oct 25, 2022)	criteria provided, conflicting interpretations
Select item 89517297.	NM_194248.3(OTOF):c.1350C>G (p.Asp450Glu) GRCh37: Chr2:26706372 GRCh38: Chr2:26483504	OTOF	D450E	Autosomal recessive nonsyndromic hearing loss 9	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 89509698.	NM_194248.3(OTOF):c.2419C>A (p.Gln807Lys) GRCh37: Chr2:26700144 GRCh38: Chr2:26477276	OTOF	Q807K, Q117K, Q60K	not provided, Autosomal recessive nonsyndromic hearing loss 9	Uncertain significance (Aug 24, 2021)	criteria provided, multiple submitters, no conflicts
Select item 89502399.	NM_194248.3(OTOF):c.3220G>A (p.Glu1074Lys) GRCh37: Chr2:26697449 GRCh38: Chr2:26474581	OTOF	E327K, E384K, E1074K	not provided, Autosomal recessive nonsyndromic hearing loss 9	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 895022100.	NM_194248.3(OTOF):c.3348A>G (p.Arg1116=) GRCh37: Chr2:26696919 GRCh38: Chr2:26474051	OTOF		Autosomal recessive nonsyndromic hearing loss 9	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter

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