ClinVar for MedGen (Select 339621) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 14115311.	NM_015404.4(WHRN):c.2453G>A (p.Arg818His) GRCh37: Chr9:117165585 GRCh38: Chr9:114403305	WHRN	R435H, R818H, R467H, R817H	not provided, Autosomal recessive nonsyndromic hearing loss 31, Usher syndrome type 2D	Uncertain significance (Oct 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13783452.	NM_015404.4(WHRN):c.1097G>A (p.Arg366His) GRCh37: Chr9:117188560 GRCh38: Chr9:114426280	WHRN	R366H	Autosomal recessive nonsyndromic hearing loss 31, Usher syndrome type 2D, not provided	Uncertain significance (Dec 21, 2021)	criteria provided, multiple submitters, no conflicts
Select item 12389233.	NM_015404.4(WHRN):c.964-21A>G GRCh37: Chr9:117188714 GRCh38: Chr9:114426434	WHRN		Autosomal recessive nonsyndromic hearing loss 31, not provided	Benign (Jul 30, 2021)	criteria provided, multiple submitters, no conflicts
Select item 12301904.	NM_015404.4(WHRN):c.1416+22A>T GRCh37: Chr9:117186592 GRCh38: Chr9:114424312	WHRN		not provided, Autosomal recessive nonsyndromic hearing loss 31	Benign (Jul 30, 2021)	criteria provided, multiple submitters, no conflicts
Select item 10319125.	NM_015404.4(WHRN):c.1018G>A (p.Asp340Asn) GRCh37: Chr9:117188639 GRCh38: Chr9:114426359	WHRN	D340N	Autosomal recessive nonsyndromic hearing loss 31	Uncertain significance (Feb 8, 2018)	criteria provided, single submitter
Select item 10011556.	NM_015404.4(WHRN):c.2173G>A (p.Glu725Lys) GRCh37: Chr9:117168698 GRCh38: Chr9:114406418	WHRN	E342K, E374K, E725K	Autosomal recessive nonsyndromic hearing loss 31, Usher syndrome type 2D, not provided	Uncertain significance (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9765697.	NM_015404.4(WHRN):c.2690A>C (p.Asp897Ala) GRCh37: Chr9:117165068 GRCh38: Chr9:114402788	WHRN	D514A, D896A, D897A, D546A	not provided, Autosomal recessive nonsyndromic hearing loss 31, Usher syndrome type 2D	Uncertain significance (Nov 20, 2021)	criteria provided, multiple submitters, no conflicts
Select item 9765688.	NM_015404.4(WHRN):c.*29T>G GRCh37: Chr9:117165005 GRCh38: Chr9:114402725	WHRN		Autosomal recessive nonsyndromic hearing loss 31, Usher syndrome type 2D	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 9765679.	NM_015404.4(WHRN):c.*51C>T GRCh37: Chr9:117164983 GRCh38: Chr9:114402703	WHRN		Usher syndrome type 2D, not provided, Autosomal recessive nonsyndromic hearing loss 31	Conflicting interpretations of pathogenicity (May 20, 2020)	criteria provided, conflicting interpretations
Select item 96406510.	NM_015404.4(WHRN):c.2571G>T (p.Gln857His) GRCh37: Chr9:117165187 GRCh38: Chr9:114402907	WHRN	Q856H, Q506H, Q474H, Q857H	Autosomal recessive nonsyndromic hearing loss 31, Usher syndrome type 2D, Inborn genetic diseases, not provided	Uncertain significance (Feb 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 91511111.	NM_015404.4(WHRN):c.*613A>G GRCh37: Chr9:117164421 GRCh38: Chr9:114402141	WHRN		Autosomal recessive nonsyndromic hearing loss 31, Usher syndrome type 2D	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91471212.	NM_015404.4(WHRN):c.-570C>G GRCh37: Chr9:117267651 GRCh38: Chr9:114505371	WHRN		Autosomal recessive nonsyndromic hearing loss 31, Usher syndrome type 2D	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 91467513.	NM_015404.4(WHRN):c.-92C>T GRCh37: Chr9:117267173 GRCh38: Chr9:114504893	WHRN		Autosomal recessive nonsyndromic hearing loss 31, Usher syndrome type 2D	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91463214.	NM_015404.4(WHRN):c.695A>C (p.His232Pro) GRCh37: Chr9:117240975 GRCh38: Chr9:114478695	WHRN	H232P	not provided, Usher syndrome type 2D, Autosomal recessive nonsyndromic hearing loss 31	Uncertain significance (Mar 22, 2023)	criteria provided, multiple submitters, no conflicts
Select item 91463115.	NM_015404.4(WHRN):c.762C>T (p.His254=) GRCh37: Chr9:117240908 GRCh38: Chr9:114478628	WHRN		not provided, Autosomal recessive nonsyndromic hearing loss 31, Usher syndrome type 2D	Conflicting interpretations of pathogenicity (Oct 14, 2022)	criteria provided, conflicting interpretations
Select item 91459616.	NM_015404.4(WHRN):c.1166G>A (p.Gly389Glu) GRCh37: Chr9:117188491 GRCh38: Chr9:114426211	WHRN	G6E, G389E	not provided, Usher syndrome type 2D, Autosomal recessive nonsyndromic hearing loss 31	Uncertain significance (Dec 21, 2021)	criteria provided, multiple submitters, no conflicts
Select item 91455217.	NM_015404.4(WHRN):c.1555A>G (p.Met519Val) GRCh37: Chr9:117185665 GRCh38: Chr9:114423385	WHRN	M136V, M168V, M519V	not provided, Autosomal recessive nonsyndromic hearing loss 31, Usher syndrome type 2D	Uncertain significance (Dec 19, 2021)	criteria provided, multiple submitters, no conflicts
Select item 91422418.	NM_015404.4(WHRN):c.-505C>T GRCh37: Chr9:117267586 GRCh38: Chr9:114505306	WHRN		Autosomal recessive nonsyndromic hearing loss 31, Usher syndrome type 2D	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91404319.	NM_015404.4(WHRN):c.1627-7T>G GRCh37: Chr9:117170305 GRCh38: Chr9:114408025	WHRN		Usher syndrome type 2D, Autosomal recessive nonsyndromic hearing loss 31	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91400020.	NM_015404.4(WHRN):c.2231C>T (p.Thr744Met) GRCh37: Chr9:117168640 GRCh38: Chr9:114406360	WHRN	T744M, T361M, T393M	not provided, Usher syndrome type 2D, Autosomal recessive nonsyndromic hearing loss 31	Uncertain significance (Aug 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 91399921.	NM_015404.4(WHRN):c.2234G>A (p.Arg745His) GRCh37: Chr9:117168637 GRCh38: Chr9:114406357	WHRN	R362H, R394H, R745H	not provided, Usher syndrome type 2D, Autosomal recessive nonsyndromic hearing loss 31	Uncertain significance (Jul 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 91395322.	NM_015404.4(WHRN):c.2419-5C>T GRCh37: Chr9:117165624 GRCh38: Chr9:114403344	WHRN		Usher syndrome type 2D, Autosomal recessive nonsyndromic hearing loss 31	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91395223.	NM_015404.4(WHRN):c.2438C>T (p.Thr813Met) GRCh37: Chr9:117165600 GRCh38: Chr9:114403320	WHRN	T813M, T812M, T430M, T462M	not provided, Autosomal recessive nonsyndromic hearing loss 31, Usher syndrome type 2D	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 91391024.	NM_015404.4(WHRN):c.*126C>A GRCh37: Chr9:117164908 GRCh38: Chr9:114402628	WHRN		Usher syndrome type 2D, Autosomal recessive nonsyndromic hearing loss 31	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91390925.	NM_015404.4(WHRN):c.*175C>T GRCh37: Chr9:117164859 GRCh38: Chr9:114402579	WHRN		Usher syndrome type 2D, Autosomal recessive nonsyndromic hearing loss 31	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91377626.	NM_015404.4(WHRN):c.324A>G (p.Gln108=) GRCh37: Chr9:117266758 GRCh38: Chr9:114504478	WHRN		not provided, Usher syndrome type 2D, Autosomal recessive nonsyndromic hearing loss 31	Uncertain significance (Feb 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 91373127.	NM_015404.4(WHRN):c.1072G>A (p.Asp358Asn) GRCh37: Chr9:117188585 GRCh38: Chr9:114426305	WHRN	D358N	not provided, Usher syndrome type 2D, Autosomal recessive nonsyndromic hearing loss 31	Uncertain significance (Sep 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 91356928.	NM_015404.4(WHRN):c.2509C>T (p.Arg837Cys) GRCh37: Chr9:117165529 GRCh38: Chr9:114403249	WHRN	R837C, R454C, R486C, R836C	Usher syndrome type 2D, Autosomal recessive nonsyndromic hearing loss 31	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 91356829.	NM_015404.4(WHRN):c.2612C>T (p.Thr871Met) GRCh37: Chr9:117165146 GRCh38: Chr9:114402866	WHRN	T870M, T520M, T488M, T871M	Usher syndrome type 2D, Autosomal recessive nonsyndromic hearing loss 31	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91353030.	NM_015404.4(WHRN):c.*339C>A GRCh37: Chr9:117164695 GRCh38: Chr9:114402415	WHRN		Usher syndrome type 2D, Autosomal recessive nonsyndromic hearing loss 31	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91307931.	NM_015404.4(WHRN):c.-314C>T GRCh37: Chr9:117267395 GRCh38: Chr9:114505115	WHRN		Usher syndrome type 2D, Autosomal recessive nonsyndromic hearing loss 31	Benign/Likely benign (Apr 27, 2017)	criteria provided, single submitter
Select item 91307832.	NM_015404.4(WHRN):c.-310G>T GRCh37: Chr9:117267391 GRCh38: Chr9:114505111	WHRN		Usher syndrome type 2D, Autosomal recessive nonsyndromic hearing loss 31	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91307733.	NM_015404.4(WHRN):c.-305C>T GRCh37: Chr9:117267386 GRCh38: Chr9:114505106	WHRN		Usher syndrome type 2D, Autosomal recessive nonsyndromic hearing loss 31	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 91276034.	NM_015404.4(WHRN):c.-595G>A GRCh37: Chr9:117267676 GRCh38: Chr9:114505396	WHRN		Usher syndrome type 2D, Autosomal recessive nonsyndromic hearing loss 31	Uncertain significance (Mar 16, 2018)	criteria provided, single submitter
Select item 91270835.	NM_015404.4(WHRN):c.-204C>G GRCh37: Chr9:117267285 GRCh38: Chr9:114505005	WHRN		not provided, Usher syndrome type 2D, Autosomal recessive nonsyndromic hearing loss 31	Conflicting interpretations of pathogenicity (Nov 11, 2018)	criteria provided, conflicting interpretations
Select item 91267236.	NM_015404.4(WHRN):c.680G>T (p.Gly227Val) GRCh37: Chr9:117240990 GRCh38: Chr9:114478710	WHRN	G227V	Usher syndrome type 2D, Autosomal recessive nonsyndromic hearing loss 31	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91267137.	NM_015404.4(WHRN):c.684C>T (p.Tyr228=) GRCh37: Chr9:117240986 GRCh38: Chr9:114478706	WHRN		not provided, Usher syndrome type 2D, Autosomal recessive nonsyndromic hearing loss 31	Conflicting interpretations of pathogenicity (Oct 5, 2022)	criteria provided, conflicting interpretations
Select item 91258638.	NM_015404.4(WHRN):c.1389G>T (p.Leu463=) GRCh37: Chr9:117186641 GRCh38: Chr9:114424361	WHRN		not provided, Usher syndrome type 2D, Autosomal recessive nonsyndromic hearing loss 31	Conflicting interpretations of pathogenicity (May 8, 2021)	criteria provided, conflicting interpretations
Select item 91253939.	NM_015404.4(WHRN):c.1909C>A (p.Pro637Thr) GRCh37: Chr9:117168962 GRCh38: Chr9:114406682	WHRN	P254T, P286T, P637T	not provided, Usher syndrome type 2D, Autosomal recessive nonsyndromic hearing loss 31	Uncertain significance (Feb 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 91253840.	NM_015404.4(WHRN):c.1929G>A (p.Gln643=) GRCh37: Chr9:117168942 GRCh38: Chr9:114406662	WHRN		Usher syndrome type 2D, Autosomal recessive nonsyndromic hearing loss 31	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91245241.	NM_015404.4(WHRN):c.2633G>A (p.Arg878Gln) GRCh37: Chr9:117165125 GRCh38: Chr9:114402845	WHRN	R878Q, R527Q, R495Q, R877Q	not provided, Usher syndrome type 2D, Autosomal recessive nonsyndromic hearing loss 31	Uncertain significance (Sep 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 91245142.	NM_015404.4(WHRN):c.2653G>A (p.Ala885Thr) GRCh37: Chr9:117165105 GRCh38: Chr9:114402825	WHRN	A884T, A502T, A885T, A534T	not provided, Usher syndrome type 2D, Autosomal recessive nonsyndromic hearing loss 31	Uncertain significance (Jun 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 91245043.	NM_015404.4(WHRN):c.2665A>G (p.Lys889Glu) GRCh37: Chr9:117165093 GRCh38: Chr9:114402813	WHRN	K889E, K888E, K506E, K538E	not provided, Usher syndrome type 2D, Autosomal recessive nonsyndromic hearing loss 31	Uncertain significance (Aug 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 91241544.	NM_015404.4(WHRN):c.*438T>G GRCh37: Chr9:117164596 GRCh38: Chr9:114402316	WHRN		Usher syndrome type 2D, Autosomal recessive nonsyndromic hearing loss 31	Benign (Apr 27, 2017)	criteria provided, single submitter
Select item 91241445.	NM_015404.4(WHRN):c.*495T>C GRCh37: Chr9:117164539 GRCh38: Chr9:114402259	WHRN		Usher syndrome type 2D, Autosomal recessive nonsyndromic hearing loss 31	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91241346.	NM_015404.4(WHRN):c.*583C>T GRCh37: Chr9:117164451 GRCh38: Chr9:114402171	WHRN		Usher syndrome type 2D, Autosomal recessive nonsyndromic hearing loss 31	Uncertain significance (Mar 30, 2018)	criteria provided, single submitter
Select item 85713747.	NM_015404.4(WHRN):c.2618G>A (p.Arg873Gln) GRCh37: Chr9:117165140 GRCh38: Chr9:114402860	WHRN	R490Q, R522Q, R872Q, R873Q	Autosomal recessive nonsyndromic hearing loss 31, Usher syndrome type 2D, not provided	Uncertain significance (Jul 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 85035448.	NM_015404.4(WHRN):c.1999G>A (p.Ala667Thr) GRCh37: Chr9:117168872 GRCh38: Chr9:114406592	WHRN	A316T, A284T, A667T	Usher syndrome type 2D, Autosomal recessive nonsyndromic hearing loss 31, not provided	Uncertain significance (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 81100349.	NM_015404.4(WHRN):c.958C>T (p.Leu320Phe) GRCh37: Chr9:117228552 GRCh38: Chr9:114466272	WHRN	L320F	Autosomal recessive nonsyndromic hearing loss 31, Usher syndrome type 2D, not provided, not specified	Uncertain significance (Jun 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 66678250.	NM_015404.4(WHRN):c.2384G>A (p.Arg795Gln) GRCh37: Chr9:117166210 GRCh38: Chr9:114403930	WHRN	R412Q, R444Q, R794Q, R795Q	not provided, Autosomal recessive nonsyndromic hearing loss 31, Usher syndrome type 2D, not specified	Conflicting interpretations of pathogenicity (Sep 28, 2022)	criteria provided, conflicting interpretations
Select item 62749251.	NM_015404.4(WHRN):c.26C>A (p.Ser9Ter) GRCh37: Chr9:117267056 GRCh38: Chr9:114504776	WHRN	S9*	not provided	Pathogenic (Jul 19, 2022)	criteria provided, single submitter
Select item 59310852.	NM_015404.4(WHRN):c.2419C>G (p.Pro807Ala) GRCh37: Chr9:117165619 GRCh38: Chr9:114403339	WHRN	P807A, P424A, P806A, P456A	Autosomal recessive nonsyndromic hearing loss 31, Usher syndrome type 2D, not provided	Uncertain significance (Feb 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 51737353.	NM_015404.4(WHRN):c.139A>G (p.Thr47Ala) GRCh37: Chr9:117266943 GRCh38: Chr9:114504663	WHRN	T47A	not specified, not provided, Usher syndrome type 2D, Autosomal recessive nonsyndromic hearing loss 31	Conflicting interpretations of pathogenicity (Jul 19, 2022)	criteria provided, conflicting interpretations
Select item 50456554.	NM_015404.4(WHRN):c.1381A>C (p.Met461Leu) GRCh37: Chr9:117186649 GRCh38: Chr9:114424369	WHRN	M461L, M78L, M110L	not specified, not provided, Autosomal recessive nonsyndromic hearing loss 31, Usher syndrome type 2D	Uncertain significance (Jul 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 42055055.	NM_015404.4(WHRN):c.856dup (p.Asp286fs) GRCh37: Chr9:117228653-117228654 GRCh38: Chr9:114466373-114466374	WHRN	D286fs	not provided, Autosomal recessive nonsyndromic hearing loss 31, Usher syndrome type 2D	Pathogenic/Likely pathogenic (Oct 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 36471056.	NM_015404.4(WHRN):c.-583C>T GRCh37: Chr9:117267664 GRCh38: Chr9:114505384	WHRN		Usher syndrome type 2D, Autosomal recessive nonsyndromic hearing loss 31	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 36470957.	NM_015404.4(WHRN):c.-581C>T GRCh37: Chr9:117267662 GRCh38: Chr9:114505382	WHRN		Usher syndrome type 2D, Autosomal recessive nonsyndromic hearing loss 31	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 36470858.	NM_015404.4(WHRN):c.-517C>T GRCh37: Chr9:117267598 GRCh38: Chr9:114505318	WHRN		Usher syndrome type 2D, Autosomal recessive nonsyndromic hearing loss 31	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 36470759.	NM_015404.4(WHRN):c.-510G>A GRCh37: Chr9:117267591 GRCh38: Chr9:114505311	WHRN		Usher syndrome type 2D, not provided, Autosomal recessive nonsyndromic hearing loss 31	Benign (Jul 21, 2018)	criteria provided, multiple submitters, no conflicts
Select item 36470660.	NM_015404.4(WHRN):c.-499G>A GRCh37: Chr9:117267580 GRCh38: Chr9:114505300	WHRN		Usher syndrome type 2D, Autosomal recessive nonsyndromic hearing loss 31	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 36470561.	NM_015404.4(WHRN):c.-483G>A GRCh37: Chr9:117267564 GRCh38: Chr9:114505284	WHRN		Usher syndrome type 2D, Autosomal recessive nonsyndromic hearing loss 31	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 36470462.	NM_015404.4(WHRN):c.-391C>A GRCh37: Chr9:117267472 GRCh38: Chr9:114505192	WHRN		Usher syndrome type 2D, not provided, Autosomal recessive nonsyndromic hearing loss 31	Benign (Jul 21, 2018)	criteria provided, multiple submitters, no conflicts
Select item 36470363.	NM_015404.4(WHRN):c.-295C>G GRCh37: Chr9:117267376 GRCh38: Chr9:114505096	WHRN		Usher syndrome type 2D, not provided, Autosomal recessive nonsyndromic hearing loss 31	Benign/Likely benign (Jan 25, 2019)	criteria provided, multiple submitters, no conflicts
Select item 36470264.	NM_015404.4(WHRN):c.-269C>A GRCh37: Chr9:117267350 GRCh38: Chr9:114505070	WHRN		Usher syndrome type 2D, Autosomal recessive nonsyndromic hearing loss 31	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 36470165.	NM_015404.4(WHRN):c.-257C>G GRCh37: Chr9:117267338 GRCh38: Chr9:114505058	WHRN		Usher syndrome type 2D, not provided, Autosomal recessive nonsyndromic hearing loss 31	Benign/Likely benign (Dec 22, 2018)	criteria provided, multiple submitters, no conflicts
Select item 36470066.	NM_015404.4(WHRN):c.-91C>T GRCh37: Chr9:117267172 GRCh38: Chr9:114504892	WHRN		Usher syndrome type 2D, not provided, Autosomal recessive nonsyndromic hearing loss 31	Benign (Jun 24, 2018)	criteria provided, multiple submitters, no conflicts
Select item 36469967.	NM_015404.4(WHRN):c.-23C>G GRCh37: Chr9:117267104 GRCh38: Chr9:114504824	WHRN		Usher syndrome type 2D, Autosomal recessive nonsyndromic hearing loss 31	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 36469868.	NM_015404.4(WHRN):c.549G>A (p.Arg183=) GRCh37: Chr9:117266533 GRCh38: Chr9:114504253	WHRN		Usher syndrome type 2D, not provided, Autosomal recessive nonsyndromic hearing loss 31	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 36469769.	NM_015404.4(WHRN):c.690C>T (p.Thr230=) GRCh37: Chr9:117240980 GRCh38: Chr9:114478700	WHRN		not specified, Usher syndrome type 2D, Autosomal recessive nonsyndromic hearing loss 31	Conflicting interpretations of pathogenicity (Sep 6, 2018)	criteria provided, conflicting interpretations
Select item 36469670.	NM_015404.4(WHRN):c.837+5G>C GRCh37: Chr9:117240828 GRCh38: Chr9:114478548	WHRN		Usher syndrome type 2D, Autosomal recessive nonsyndromic hearing loss 31	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 36469571.	NM_015404.4(WHRN):c.1014A>G (p.Leu338=) GRCh37: Chr9:117188643 GRCh38: Chr9:114426363	WHRN		Usher syndrome type 2D, Autosomal recessive nonsyndromic hearing loss 31	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 36469472.	NM_015404.4(WHRN):c.1160C>T (p.Ser387Leu) GRCh37: Chr9:117188497 GRCh38: Chr9:114426217	WHRN	S387L, S4L	Usher syndrome type 2D, Autosomal recessive nonsyndromic hearing loss 31	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 36469373.	NM_015404.4(WHRN):c.1161G>A (p.Ser387=) GRCh37: Chr9:117188496 GRCh38: Chr9:114426216	WHRN		Usher syndrome type 2D, not provided, Autosomal recessive nonsyndromic hearing loss 31	Conflicting interpretations of pathogenicity (Oct 17, 2022)	criteria provided, conflicting interpretations
Select item 36469274.	NM_015404.4(WHRN):c.1227C>T (p.Ala409=) GRCh37: Chr9:117186803 GRCh38: Chr9:114424523	WHRN		Usher syndrome type 2D, not provided, Autosomal recessive nonsyndromic hearing loss 31	Conflicting interpretations of pathogenicity (Aug 9, 2022)	criteria provided, conflicting interpretations
Select item 36469175.	NM_015404.4(WHRN):c.1305C>T (p.Asn435=) GRCh37: Chr9:117186725 GRCh38: Chr9:114424445	WHRN		not specified, Usher syndrome type 2D, not provided, Autosomal recessive nonsyndromic hearing loss 31	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 36469076.	NM_015404.4(WHRN):c.1331A>G (p.Tyr444Cys) GRCh37: Chr9:117186699 GRCh38: Chr9:114424419	WHRN	Y444C, Y93C, Y61C	Usher syndrome type 2D, not provided, Autosomal recessive nonsyndromic hearing loss 31	Uncertain significance (Sep 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 36468977.	NM_015404.4(WHRN):c.1351G>C (p.Gly451Arg) GRCh37: Chr9:117186679 GRCh38: Chr9:114424399	WHRN	G451R, G100R, G68R	Usher syndrome type 2D, Autosomal recessive nonsyndromic hearing loss 31	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 36468878.	NM_015404.4(WHRN):c.1378G>A (p.Val460Ile) GRCh37: Chr9:117186652 GRCh38: Chr9:114424372	WHRN	V460I, V77I, V109I	Usher syndrome type 2D, Autosomal recessive nonsyndromic hearing loss 31	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 36468779.	NM_015404.4(WHRN):c.1626+8T>G GRCh37: Chr9:117185586 GRCh38: Chr9:114423306	WHRN		Autosomal recessive nonsyndromic hearing loss 31, not provided, Usher syndrome type 2D	Conflicting interpretations of pathogenicity (Oct 22, 2021)	criteria provided, conflicting interpretations
Select item 36468680.	NM_015404.4(WHRN):c.1683C>T (p.Leu561=) GRCh37: Chr9:117170242 GRCh38: Chr9:114407962	WHRN		Usher syndrome type 2D, Autosomal recessive nonsyndromic hearing loss 31	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 36468581.	NM_015404.4(WHRN):c.1892C>T (p.Ala631Val) GRCh37: Chr9:117168979 GRCh38: Chr9:114406699	WHRN	A631V, A280V, A248V	not provided, Usher syndrome type 2D, Autosomal recessive nonsyndromic hearing loss 31	Uncertain significance (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 36468482.	NM_015404.4(WHRN):c.2130C>A (p.Gly710=) GRCh37: Chr9:117168741 GRCh38: Chr9:114406461	WHRN		Autosomal recessive nonsyndromic hearing loss 31, Usher syndrome type 2D	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 36468383.	NM_015404.4(WHRN):c.2173G>C (p.Glu725Gln) GRCh37: Chr9:117168698 GRCh38: Chr9:114406418	WHRN	E725Q, E342Q, E374Q	Usher syndrome type 2D, Autosomal recessive nonsyndromic hearing loss 31	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 36468284.	NM_015404.4(WHRN):c.2248C>G (p.Leu750Val) GRCh37: Chr9:117166346 GRCh38: Chr9:114404066	WHRN	L750V, L399V, L367V, L749V	Usher syndrome type 2D, Autosomal recessive nonsyndromic hearing loss 31	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 36468185.	NM_015404.4(WHRN):c.2261C>T (p.Ser754Leu) GRCh37: Chr9:117166333 GRCh38: Chr9:114404053	WHRN	S754L, S371L, S403L, S753L	not provided, Usher syndrome type 2D, Autosomal recessive nonsyndromic hearing loss 31	Uncertain significance (Jun 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 36468086.	NM_015404.4(WHRN):c.2381C>T (p.Pro794Leu) GRCh37: Chr9:117166213 GRCh38: Chr9:114403933	WHRN	P794L, P411L, P443L, P793L	Usher syndrome type 2D, Autosomal recessive nonsyndromic hearing loss 31	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 36467987.	NM_015404.4(WHRN):c.2383C>T (p.Arg795Trp) GRCh37: Chr9:117166211 GRCh38: Chr9:114403931	WHRN	R795W, R412W, R444W, R794W	Usher syndrome type 2D, not provided, Autosomal recessive nonsyndromic hearing loss 31	Uncertain significance (Oct 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 36467888.	NM_015404.4(WHRN):c.*37C>G GRCh37: Chr9:117164997 GRCh38: Chr9:114402717	WHRN		Usher syndrome type 2D, not provided, Autosomal recessive nonsyndromic hearing loss 31	Conflicting interpretations of pathogenicity (May 20, 2020)	criteria provided, conflicting interpretations
Select item 36467789.	NM_015404.4(WHRN):c.*149A>G GRCh37: Chr9:117164885 GRCh38: Chr9:114402605	WHRN		Usher syndrome type 2D, Autosomal recessive nonsyndromic hearing loss 31	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 36467690.	NM_015404.4(WHRN):c.*156G>A GRCh37: Chr9:117164878 GRCh38: Chr9:114402598	WHRN		Usher syndrome type 2D, Autosomal recessive nonsyndromic hearing loss 31	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 36467591.	NM_015404.4(WHRN):c.*187A>G GRCh37: Chr9:117164847 GRCh38: Chr9:114402567	WHRN		Usher syndrome type 2D, Autosomal recessive nonsyndromic hearing loss 31	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 36467492.	NM_015404.4(WHRN):c.*188A>T GRCh37: Chr9:117164846 GRCh38: Chr9:114402566	WHRN		Usher syndrome type 2D, Autosomal recessive nonsyndromic hearing loss 31	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 36467293.	NM_015404.4(WHRN):c.*357C>G GRCh37: Chr9:117164677 GRCh38: Chr9:114402397	WHRN		Usher syndrome type 2D, Autosomal recessive nonsyndromic hearing loss 31	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 36467194.	NM_015404.4(WHRN):c.*554C>T GRCh37: Chr9:117164480 GRCh38: Chr9:114402200	WHRN		Usher syndrome type 2D, Autosomal recessive nonsyndromic hearing loss 31	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 36467095.	NM_015404.4(WHRN):c.*633T>C GRCh37: Chr9:117164401 GRCh38: Chr9:114402121	WHRN		Usher syndrome type 2D, Autosomal recessive nonsyndromic hearing loss 31	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 28901596.	NM_015404.4(WHRN):c.933A>C (p.Pro311=) GRCh37: Chr9:117228577 GRCh38: Chr9:114466297	WHRN		not specified, not provided, Usher syndrome type 2D, Autosomal recessive nonsyndromic hearing loss 31	Conflicting interpretations of pathogenicity (Oct 19, 2022)	criteria provided, conflicting interpretations
Select item 28892297.	NM_015404.4(WHRN):c.1075G>A (p.Val359Ile) GRCh37: Chr9:117188582 GRCh38: Chr9:114426302	WHRN	V359I	not specified, not provided, Autosomal recessive nonsyndromic hearing loss 31, Usher syndrome type 2D	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 28787998.	NM_015404.4(WHRN):c.1455G>A (p.Pro485=) GRCh37: Chr9:117185765 GRCh38: Chr9:114423485	WHRN		not specified, not provided, Usher syndrome type 2D, Autosomal recessive nonsyndromic hearing loss 31	Conflicting interpretations of pathogenicity (Oct 21, 2022)	criteria provided, conflicting interpretations
Select item 22856499.	NM_015404.4(WHRN):c.35C>T (p.Ser12Leu) GRCh37: Chr9:117267047 GRCh38: Chr9:114504767	WHRN	S12L	not provided, Autosomal recessive nonsyndromic hearing loss 31, Usher syndrome type 2D, not specified	Uncertain significance (Aug 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 228563100.	NM_015404.4(WHRN):c.2510G>A (p.Arg837His) GRCh37: Chr9:117165528 GRCh38: Chr9:114403248	WHRN	R837H, R836H, R454H, R486H	not specified, not provided, Autosomal recessive nonsyndromic hearing loss 31, Usher syndrome type 2D	Uncertain significance (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts

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