ClinVar for MedGen (Select 356389) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 17056481.	NM_153676.4(USH1C):c.434G>A (p.Cys145Tyr) GRCh37: Chr11:17548832 GRCh38: Chr11:17527285	USH1C	C145Y	Autosomal recessive nonsyndromic hearing loss 18A	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 17056182.	NM_153676.4(USH1C):c.671G>A (p.Cys224Tyr) GRCh37: Chr11:17547897 GRCh38: Chr11:17526350	USH1C	C224Y	Autosomal recessive nonsyndromic hearing loss 18A	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 16989643.	NM_153676.4(USH1C):c.388-1G>A GRCh37: Chr11:17548879 GRCh38: Chr11:17527332	USH1C		Autosomal recessive nonsyndromic hearing loss 18A	Likely pathogenic (Feb 2, 2022)	criteria provided, single submitter
Select item 13341194.	NM_153676.4(USH1C):c.104+5G>C GRCh37: Chr11:17554797 GRCh38: Chr11:17533250	USH1C		Autosomal recessive nonsyndromic hearing loss 18A	Likely pathogenic (Aug 1, 2020)	criteria provided, single submitter
Select item 13154605.	NM_153676.4(USH1C):c.1793G>A (p.Arg598His) GRCh37: Chr11:17531123 GRCh38: Chr11:17509576	USH1C	R598H	not provided, Usher syndrome type 1, Autosomal recessive nonsyndromic hearing loss 18A, Usher syndrome type 1C	Uncertain significance (Jan 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 12096656.	NM_153676.4(USH1C):c.2269C>T (p.Arg757Cys) GRCh37: Chr11:17523040 GRCh38: Chr11:17501493	USH1C	R438C, R457C, R757C	Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A, not provided	Uncertain significance (Oct 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 11805857.	NM_153676.4(USH1C):c.1413+52C>T GRCh37: Chr11:17533397 GRCh38: Chr11:17511850	USH1C		not provided, Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A	Benign (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 11805738.	NM_153676.4(USH1C):c.2546+125A>G GRCh37: Chr11:17518180 GRCh38: Chr11:17496633	USH1C		not provided, Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A	Benign (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 11805609.	NM_153676.4(USH1C):c.521+56A>G GRCh37: Chr11:17548507 GRCh38: Chr11:17526960	USH1C		not provided, Autosomal recessive nonsyndromic hearing loss 18A, Usher syndrome type 1C	Benign (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 118055910.	NM_153676.4(USH1C):c.579+61G>A GRCh37: Chr11:17548239 GRCh38: Chr11:17526692	USH1C		not provided, Autosomal recessive nonsyndromic hearing loss 18A, Usher syndrome type 1C	Benign (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 111890411.	NM_153676.4(USH1C):c.204G>T (p.Leu68=) GRCh37: Chr11:17552990 GRCh38: Chr11:17531443	USH1C		Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A, not provided	Conflicting interpretations of pathogenicity (Oct 29, 2022)	criteria provided, conflicting interpretations
Select item 103029512.	NM_153676.4(USH1C):c.1910C>G (p.Thr637Ser) GRCh37: Chr11:17531006 GRCh38: Chr11:17509459	USH1C	T637S	Autosomal recessive nonsyndromic hearing loss 18A	Uncertain significance (Jul 30, 2020)	criteria provided, single submitter
Select item 99207913.	NM_153676.4(USH1C):c.1183C>T (p.His395Tyr) GRCh37: Chr11:17542444 GRCh38: Chr11:17520897	USH1C	H376Y, H395Y	not provided, Usher syndrome type 1C, Usher syndrome type 1, Autosomal recessive nonsyndromic hearing loss 18A	Uncertain significance (Sep 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 99207514.	NM_153676.4(USH1C):c.2270G>A (p.Arg757His) GRCh37: Chr11:17523039 GRCh38: Chr11:17501492	USH1C	R438H, R457H, R757H	Usher syndrome type 1C, Usher syndrome type 1, Autosomal recessive nonsyndromic hearing loss 18A, not provided	Uncertain significance (Aug 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 99207215.	NM_153676.4(USH1C):c.2374C>T (p.Arg792Trp) GRCh37: Chr11:17522604 GRCh38: Chr11:17501057	USH1C	R473W, R492W, R792W	Autosomal recessive nonsyndromic hearing loss 18A, Usher syndrome type 1C, Usher syndrome type 1, not provided	Uncertain significance (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 96855916.	NM_153676.4(USH1C):c.361G>A (p.Gly121Ser) GRCh37: Chr11:17552727 GRCh38: Chr11:17531180	USH1C	G121S	Usher syndrome type 1C, Usher syndrome type 1, Autosomal recessive nonsyndromic hearing loss 18A, not provided	Uncertain significance (Sep 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 92992217.	NM_153676.4(USH1C):c.2377C>T (p.His793Tyr) GRCh37: Chr11:17522601 GRCh38: Chr11:17501054	USH1C	H793Y, H474Y, H493Y	Inborn genetic diseases, not specified, Usher syndrome type 1, Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A, not provided	Uncertain significance (Feb 24, 2023)	criteria provided, multiple submitters, no conflicts
Select item 88038518.	NM_153676.4(USH1C):c.-60T>G GRCh37: Chr11:17565914 GRCh38: Chr11:17544367	USH1C		Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A, Usher syndrome type 1, Usher syndrome type 1C	Uncertain significance (Apr 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 74128619.	NM_153676.4(USH1C):c.135C>T (p.Asp45=) GRCh37: Chr11:17553059 GRCh38: Chr11:17531512	USH1C		Usher syndrome type 1, Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A, not provided	Likely benign (Sep 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 67890520.	NM_153676.4(USH1C):c.36+214C>T GRCh37: Chr11:17565605 GRCh38: Chr11:17544058	USH1C		not provided, Autosomal recessive nonsyndromic hearing loss 18A, Usher syndrome type 1C	Benign (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 67887921.	NM_153676.4(USH1C):c.760-66T>C GRCh37: Chr11:17545091 GRCh38: Chr11:17523544	USH1C		not provided, Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A	Benign (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 67042022.	NM_153676.4(USH1C):c.2226+197G>A GRCh37: Chr11:17523289 GRCh38: Chr11:17501742	USH1C		not provided, Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A	Benign (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 67041723.	NM_153676.4(USH1C):c.1261-34C>T GRCh37: Chr11:17533635 GRCh38: Chr11:17512088	USH1C		not provided, Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A	Benign (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 67041624.	NM_153676.4(USH1C):c.1086-42G>A GRCh37: Chr11:17542583 GRCh38: Chr11:17521036	USH1C		not provided, Autosomal recessive nonsyndromic hearing loss 18A, Usher syndrome type 1C	Benign (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 67041525.	NM_153676.4(USH1C):c.1086-45A>G GRCh37: Chr11:17542586 GRCh38: Chr11:17521039	USH1C		not provided, Autosomal recessive nonsyndromic hearing loss 18A, Usher syndrome type 1C	Benign (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 67041426.	NM_153676.4(USH1C):c.1086-108A>G GRCh37: Chr11:17542649 GRCh38: Chr11:17521102	USH1C		not provided, Autosomal recessive nonsyndromic hearing loss 18A, Usher syndrome type 1C	Benign (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 67041127.	NM_153676.4(USH1C):c.37-61A>G GRCh37: Chr11:17554930 GRCh38: Chr11:17533383	USH1C		not provided, Autosomal recessive nonsyndromic hearing loss 18A, Usher syndrome type 1C	Benign (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 67041028.	NM_153676.4(USH1C):c.-183T>G GRCh37: Chr11:17566037 GRCh38: Chr11:17544490	USH1C		Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A, not provided	Benign (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 66787529.	NM_153676.4(USH1C):c.2656-260A>G GRCh37: Chr11:17516183 GRCh38: Chr11:17494636	USH1C		not provided, Autosomal recessive nonsyndromic hearing loss 18A, Usher syndrome type 1C	Benign (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 62749030.	NM_153676.4(USH1C):c.2352_2353del (p.Val784_Tyr785insTer) GRCh37: Chr11:17522625-17522626 GRCh38: Chr11:17501078-17501079	USH1C		Autosomal recessive nonsyndromic hearing loss 18A	Likely pathogenic (Feb 26, 2019)	no assertion criteria provided
Select item 62748931.	NM_153676.4(USH1C):c.2491-1G>T GRCh37: Chr11:17518361 GRCh38: Chr11:17496814	USH1C		Autosomal recessive nonsyndromic hearing loss 18A	Pathogenic (Feb 26, 2019)	no assertion criteria provided
Select item 59907232.	NM_153676.4(USH1C):c.445G>A (p.Glu149Lys) GRCh37: Chr11:17548821 GRCh38: Chr11:17527274	USH1C	E149K	Autosomal recessive nonsyndromic hearing loss 18A	Likely pathogenic (Jan 18, 2018)	no assertion criteria provided
Select item 55851533.	NM_153676.4(USH1C):c.1363G>T (p.Glu455Ter) GRCh37: Chr11:17533499 GRCh38: Chr11:17511952	USH1C	E455*	Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A	Uncertain significance (May 24, 2018)	criteria provided, single submitter
Select item 55810334.	NM_153676.4(USH1C):c.1413+2T>C GRCh37: Chr11:17533447 GRCh38: Chr11:17511900	USH1C		Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A	Uncertain significance (May 2, 2018)	criteria provided, single submitter
Select item 55804935.	NM_153676.4(USH1C):c.1871C>A (p.Ser624Ter) GRCh37: Chr11:17531045 GRCh38: Chr11:17509498	USH1C	S624*	Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A	Uncertain significance (Apr 25, 2018)	criteria provided, single submitter
Select item 55802936.	NM_153676.4(USH1C):c.819+1G>A GRCh37: Chr11:17544965 GRCh38: Chr11:17523418	USH1C		Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A	Likely pathogenic (Apr 24, 2018)	criteria provided, single submitter
Select item 55802137.	NM_153676.4(USH1C):c.1824del (p.Pro609fs) GRCh37: Chr11:17531092 GRCh38: Chr11:17509545	USH1C	P609fs	Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A	Uncertain significance (Apr 24, 2018)	criteria provided, single submitter
Select item 55801138.	NM_153676.4(USH1C):c.2006_2010del (p.Thr669fs) GRCh37: Chr11:17530906-17530910 GRCh38: Chr11:17509359-17509363	USH1C	T669fs	Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A	Uncertain significance (Apr 24, 2018)	criteria provided, single submitter
Select item 55788039.	NM_153676.4(USH1C):c.2490+1G>T GRCh37: Chr11:17519708 GRCh38: Chr11:17498161	USH1C		not provided, Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A	Likely pathogenic (Jul 13, 2021)	criteria provided, multiple submitters, no conflicts
Select item 55721740.	NM_153676.4(USH1C):c.2381-2A>G GRCh37: Chr11:17519820 GRCh38: Chr11:17498273	USH1C		Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A	Likely pathogenic (Mar 19, 2018)	criteria provided, single submitter
Select item 55704941.	NM_153676.4(USH1C):c.2487C>T (p.Gly829=) GRCh37: Chr11:17519712 GRCh38: Chr11:17498165	USH1C		not provided, Autosomal recessive nonsyndromic hearing loss 18A, Usher syndrome type 1C, Usher syndrome type 1C	Conflicting interpretations of pathogenicity (Oct 24, 2022)	criteria provided, conflicting interpretations
Select item 55694342.	NM_153676.4(USH1C):c.1414-2_1414-1insCTG GRCh37: Chr11:17532069-17532070 GRCh38: Chr11:17510522-17510523	USH1C		not provided, Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A	Uncertain significance (Jul 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 55694243.	NM_153676.4(USH1C):c.1415_1416insCTGAGACCCCCTGG (p.Val472_Ser473insTer) GRCh37: Chr11:17532066-17532067 GRCh38: Chr11:17510519-17510520	USH1C		Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A	Uncertain significance (Feb 27, 2018)	criteria provided, single submitter
Select item 55688444.	NM_153676.4(USH1C):c.1806del (p.Ile603fs) GRCh37: Chr11:17531110 GRCh38: Chr11:17509563	USH1C	I603fs	Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A	Uncertain significance (Mar 6, 2018)	criteria provided, single submitter
Select item 55680245.	NM_153676.4(USH1C):c.2490+2T>C GRCh37: Chr11:17519707 GRCh38: Chr11:17498160	USH1C		Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A	Likely pathogenic (Feb 22, 2018)	criteria provided, single submitter
Select item 55654046.	NM_153676.4(USH1C):c.1543CCCCCGCCT[3] (p.Pro518_Pro520dup) GRCh37: Chr11:17531355-17531356 GRCh38: Chr11:17509808-17509809	USH1C		Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A	Uncertain significance (Feb 6, 2018)	criteria provided, single submitter
Select item 55647947.	NM_153676.4(USH1C):c.1806dup (p.Ile603fs) GRCh37: Chr11:17531109-17531110 GRCh38: Chr11:17509562-17509563	USH1C	I603fs	Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A	Uncertain significance (Jan 31, 2018)	criteria provided, single submitter
Select item 55641248.	NM_153676.4(USH1C):c.1216G>T (p.Gly406Ter) GRCh37: Chr11:17537832 GRCh38: Chr11:17516285	USH1C	G406*	Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A	Uncertain significance (Feb 4, 2018)	criteria provided, single submitter
Select item 55638149.	NM_153676.4(USH1C):c.672C>A (p.Cys224Ter) GRCh37: Chr11:17547896 GRCh38: Chr11:17526349	USH1C	C224*	not provided, Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A	Pathogenic/Likely pathogenic (Jul 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 55618350.	NM_153676.4(USH1C):c.1265del (p.Gly422fs) GRCh37: Chr11:17533597 GRCh38: Chr11:17512050	USH1C	G422fs	Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A	Uncertain significance (Jan 17, 2018)	criteria provided, single submitter
Select item 55613951.	NM_153676.4(USH1C):c.1712_1716dup (p.Pro573fs) GRCh37: Chr11:17531199-17531200 GRCh38: Chr11:17509652-17509653	USH1C	P573fs	Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A	Uncertain significance (Jan 15, 2018)	criteria provided, single submitter
Select item 55606052.	NM_153676.4(USH1C):c.1739_1744del (p.Pro580_Val581del) GRCh37: Chr11:17531172-17531177 GRCh38: Chr11:17509625-17509630	USH1C		Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A	Uncertain significance (Jan 10, 2018)	criteria provided, single submitter
Select item 55601153.	NM_153676.4(USH1C):c.104+1G>A GRCh37: Chr11:17554801 GRCh38: Chr11:17533254	USH1C		not provided, Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A	Likely pathogenic (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 55598854.	NM_153676.4(USH1C):c.1290T>G (p.Tyr430Ter) GRCh37: Chr11:17533572 GRCh38: Chr11:17512025	USH1C	Y430*	not provided, Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A	Conflicting interpretations of pathogenicity (Sep 11, 2018)	criteria provided, conflicting interpretations
Select item 55587555.	NM_153676.4(USH1C):c.598G>A (p.Gly200Ser) GRCh37: Chr11:17547970 GRCh38: Chr11:17526423	USH1C	G200S	Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A	Uncertain significance (Jan 2, 2018)	criteria provided, single submitter
Select item 55580456.	NM_153676.4(USH1C):c.1351AAAGAG[1] (p.451KE[1]) GRCh37: Chr11:17533500-17533505 GRCh38: Chr11:17511953-17511958	USH1C		Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A	Uncertain significance (Dec 21, 2017)	criteria provided, single submitter
Select item 55547257.	NM_153676.4(USH1C):c.248+1G>A GRCh37: Chr11:17552945 GRCh38: Chr11:17531398	USH1C		Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A, not provided	Likely pathogenic (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 55543658.	NM_153676.4(USH1C):c.1146dup (p.Gln383fs) GRCh37: Chr11:17542480-17542481 GRCh38: Chr11:17520933-17520934	USH1C	Q364fs, Q383fs	not provided, Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A	Pathogenic/Likely pathogenic (Sep 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 55530859.	NM_153676.4(USH1C):c.388-8T>A GRCh37: Chr11:17548886 GRCh38: Chr11:17527339	USH1C		Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A	Uncertain significance (Nov 28, 2017)	criteria provided, single submitter
Select item 55513760.	NM_153676.4(USH1C):c.2326dup (p.Ile776fs) GRCh37: Chr11:17522651-17522652 GRCh38: Chr11:17501104-17501105	USH1C	I457fs, I776fs, I476fs	not provided, Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A	Pathogenic/Likely pathogenic (Mar 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 55508461.	NM_153676.4(USH1C):c.2688_2695dup (p.Arg899fs) GRCh37: Chr11:17515883-17515884 GRCh38: Chr11:17494336-17494337	USH1C	R899fs	Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A	Uncertain significance (Nov 16, 2017)	criteria provided, single submitter
Select item 55506462.	NM_005709.4(USH1C):c.1220del (p.Gly407fs) GRCh37: Chr11:17539012 GRCh38: Chr11:17517465	USH1C	G388fs, G407fs	not provided, Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A	Pathogenic (Jun 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 55505463.	NM_153676.4(USH1C):c.2431_2451del (p.Thr811_Glu817del) GRCh37: Chr11:17519748-17519768 GRCh38: Chr11:17498201-17498221	USH1C		not provided, Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A	Uncertain significance (Mar 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 55467664.	NM_153676.4(USH1C):c.2490+1del GRCh37: Chr11:17519708 GRCh38: Chr11:17498161	USH1C		Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A	Uncertain significance (Nov 7, 2017)	criteria provided, single submitter
Select item 55434965.	NM_153676.4(USH1C):c.674+1del GRCh37: Chr11:17547893 GRCh38: Chr11:17526346	USH1C		Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A	Likely pathogenic (Oct 16, 2017)	criteria provided, single submitter
Select item 55433466.	NM_153676.4(USH1C):c.2185-2A>G GRCh37: Chr11:17523529 GRCh38: Chr11:17501982	USH1C		Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A	Likely pathogenic (Oct 16, 2017)	criteria provided, single submitter
Select item 55428467.	NM_153676.4(USH1C):c.1956_1957del (p.His652fs) GRCh37: Chr11:17530959-17530960 GRCh38: Chr11:17509412-17509413	USH1C	H652fs	Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A	Uncertain significance (Oct 13, 2017)	criteria provided, single submitter
Select item 55423268.	NM_153676.4(USH1C):c.2661TCT[1] (p.Leu889del) GRCh37: Chr11:17515913-17515915 GRCh38: Chr11:17494366-17494368	USH1C	F552del, L889del, F533del	not provided, Autosomal recessive nonsyndromic hearing loss 18A, Usher syndrome type 1C	Uncertain significance (Aug 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 55418869.	NM_153676.4(USH1C):c.674+2T>G GRCh37: Chr11:17547892 GRCh38: Chr11:17526345	USH1C		not provided, Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A	Pathogenic/Likely pathogenic (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 55413170.	NM_153676.4(USH1C):c.1A>G (p.Met1Val) GRCh37: Chr11:17565854 GRCh38: Chr11:17544307	USH1C	M1V	Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A	Likely pathogenic (Sep 27, 2017)	criteria provided, single submitter
Select item 55412271.	NM_005709.4(USH1C):c.1284+6880del GRCh37: Chr11:17532068 GRCh38: Chr11:17510521	USH1C		Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A	Uncertain significance (Sep 27, 2017)	criteria provided, single submitter
Select item 55411472.	NM_153676.4(USH1C):c.2280+2T>C GRCh37: Chr11:17523027 GRCh38: Chr11:17501480	USH1C		Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A	Likely pathogenic (Sep 27, 2017)	criteria provided, single submitter
Select item 55409373.	NM_153676.4(USH1C):c.311G>A (p.Gly104Asp) GRCh37: Chr11:17552777 GRCh38: Chr11:17531230	USH1C	G104D	not provided, Usher syndrome type 1, Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A	Conflicting interpretations of pathogenicity (Mar 10, 2022)	criteria provided, conflicting interpretations
Select item 55395374.	NM_153676.4(USH1C):c.1559dup (p.Ser521fs) GRCh37: Chr11:17531356-17531357 GRCh38: Chr11:17509809-17509810	USH1C	S521fs	not provided, Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A	Uncertain significance (Jul 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 55378575.	NM_153676.4(USH1C):c.266G>A (p.Arg89His) GRCh37: Chr11:17552822 GRCh38: Chr11:17531275	USH1C	R89H	not specified, not provided, Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A	Uncertain significance (Aug 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 55376976.	NM_153676.4(USH1C):c.877-1G>A GRCh37: Chr11:17544474 GRCh38: Chr11:17522927	USH1C		Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A	Likely pathogenic (Sep 6, 2017)	criteria provided, single submitter
Select item 55372677.	NM_153676.4(USH1C):c.1139del (p.Gly379_Ser380insTer) GRCh37: Chr11:17542488 GRCh38: Chr11:17520941	USH1C		not provided, Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A	Pathogenic/Likely pathogenic (Aug 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 55366678.	NM_153676.4(USH1C):c.2089G>T (p.Glu697Ter) GRCh37: Chr11:17527421 GRCh38: Chr11:17505874	USH1C	E697*	Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A	Uncertain significance (Sep 12, 2017)	criteria provided, single submitter
Select item 55361879.	NM_153676.4(USH1C):c.760-1G>T GRCh37: Chr11:17545026 GRCh38: Chr11:17523479	USH1C		Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A	Likely pathogenic (Aug 31, 2017)	criteria provided, single submitter
Select item 55354980.	NM_153676.4(USH1C):c.1807dup (p.Ile603fs) GRCh37: Chr11:17531108-17531109 GRCh38: Chr11:17509561-17509562	USH1C	I603fs	Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A	Uncertain significance (Aug 29, 2017)	criteria provided, single submitter
Select item 55349281.	NM_153676.4(USH1C):c.674+1G>A GRCh37: Chr11:17547893 GRCh38: Chr11:17526346	USH1C		not provided, Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A	Pathogenic/Likely pathogenic (Oct 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 55339182.	NM_153676.4(USH1C):c.2528dup (p.Glu844fs) GRCh37: Chr11:17518322-17518323 GRCh38: Chr11:17496775-17496776	USH1C	E844fs, E525fs, E544fs	Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A	Uncertain significance (Aug 18, 2017)	criteria provided, single submitter
Select item 55323683.	NM_153676.4(USH1C):c.915_920del (p.Glu306_Ala307del) GRCh37: Chr11:17544430-17544435 GRCh38: Chr11:17522883-17522888	USH1C		not provided, Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A	Uncertain significance (Jun 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 55314684.	NM_153676.4(USH1C):c.2281-2A>G GRCh37: Chr11:17522699 GRCh38: Chr11:17501152	USH1C		Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A	Likely pathogenic (Aug 3, 2017)	criteria provided, single submitter
Select item 55305385.	NM_153676.4(USH1C):c.793G>A (p.Asp265Asn) GRCh37: Chr11:17544992 GRCh38: Chr11:17523445	USH1C	D265N	Autosomal recessive nonsyndromic hearing loss 18A, Usher syndrome type 1, Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A, Usher syndrome type 1C	Uncertain significance (Dec 17, 2021)	criteria provided, multiple submitters, no conflicts
Select item 55294986.	NM_153676.4(USH1C):c.2656-1G>A GRCh37: Chr11:17515924 GRCh38: Chr11:17494377	USH1C		Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A	Uncertain significance (Jul 31, 2017)	criteria provided, single submitter
Select item 55274487.	NM_153676.4(USH1C):c.1840del (p.Gln614fs) GRCh37: Chr11:17531076 GRCh38: Chr11:17509529	USH1C	Q614fs	Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A	Likely benign (Jul 5, 2017)	criteria provided, single submitter
Select item 55273088.	NM_153676.4(USH1C):c.2281-1G>A GRCh37: Chr11:17522698 GRCh38: Chr11:17501151	USH1C		Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A	Likely pathogenic (Jul 5, 2017)	criteria provided, single submitter
Select item 55260889.	NM_153676.4(USH1C):c.2681del (p.Gly894fs) GRCh37: Chr11:17515898 GRCh38: Chr11:17494351	USH1C	G894fs	Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A	Uncertain significance (Jun 22, 2017)	criteria provided, single submitter
Select item 55181490.	NM_153676.4(USH1C):c.496+1G>T GRCh37: Chr11:17548769 GRCh38: Chr11:17527222	USH1C		not provided, Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A, Usher syndrome type 1, Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A	Pathogenic (Aug 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 55167691.	NM_153676.4(USH1C):c.1020-2A>C GRCh37: Chr11:17542960 GRCh38: Chr11:17521413	USH1C		not provided, Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A	Likely pathogenic (Oct 19, 2021)	criteria provided, multiple submitters, no conflicts
Select item 55152092.	NM_153676.4(USH1C):c.579+1G>C GRCh37: Chr11:17548299 GRCh38: Chr11:17526752	USH1C		not provided, Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A	Pathogenic/Likely pathogenic (Feb 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 55139293.	NM_153676.4(USH1C):c.2227-1G>T GRCh37: Chr11:17523083 GRCh38: Chr11:17501536	USH1C		Usher syndrome type 1C, Usher syndrome type 1, Autosomal recessive nonsyndromic hearing loss 18A, not provided, Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A	Pathogenic/Likely pathogenic (Sep 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 55128194.	NM_153676.4(USH1C):c.1654_1660del (p.Tyr552fs) GRCh37: Chr11:17531256-17531262 GRCh38: Chr11:17509709-17509715	USH1C	Y552fs	Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A	Uncertain significance (Mar 29, 2017)	criteria provided, single submitter
Select item 55108695.	NM_153676.4(USH1C):c.1016G>A (p.Arg339Gln) GRCh37: Chr11:17544334 GRCh38: Chr11:17522787	USH1C	R339Q, R320Q	Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A, not provided	Uncertain significance (Aug 31, 2021)	criteria provided, multiple submitters, no conflicts
Select item 55096696.	NM_153676.4(USH1C):c.2547-1G>T GRCh37: Chr11:17517225 GRCh38: Chr11:17495678	USH1C		not provided, Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A	Likely benign (Dec 7, 2021)	criteria provided, multiple submitters, no conflicts
Select item 55052897.	NM_153676.4(USH1C):c.1556C>T (p.Pro519Leu) GRCh37: Chr11:17531360 GRCh38: Chr11:17509813	USH1C	P519L	not provided, Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A	Conflicting interpretations of pathogenicity (Mar 12, 2022)	criteria provided, conflicting interpretations
Select item 55041498.	NM_153676.4(USH1C):c.1840C>T (p.Gln614Ter) GRCh37: Chr11:17531076 GRCh38: Chr11:17509529	USH1C	Q614*	Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A	Likely benign (Jan 19, 2017)	criteria provided, single submitter
Select item 55038499.	NM_153676.4(USH1C):c.1292G>T (p.Gly431Val) GRCh37: Chr11:17533570 GRCh38: Chr11:17512023	USH1C	G431V	not provided, Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A	Conflicting interpretations of pathogenicity (Mar 26, 2022)	criteria provided, conflicting interpretations
Select item 550266100.	NM_153676.4(USH1C):c.2041C>T (p.Arg681Ter) GRCh37: Chr11:17527469 GRCh38: Chr11:17505922	USH1C	R681*	not provided, Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A	Conflicting interpretations of pathogenicity (Apr 4, 2021)	criteria provided, conflicting interpretations

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