ClinVar for MedGen (Select 339683) - ClinVar

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Items: 89

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24456621.	NM_173477.5(USH1G):c.85dup (p.Asp29fs) GRCh37: Chr17:72919083-72919084 GRCh38: Chr17:74922988-74922989	USH1G	D29fs	Usher syndrome type 1G	Pathogenic (Feb 28, 2023)	criteria provided, single submitter
Select item 24456612.	NM_173477.5(USH1G):c.1324del (p.Ala442fs) GRCh37: Chr17:72915607 GRCh38: Chr17:74919512	USH1G	A442fs, A339fs	Usher syndrome type 1G	Pathogenic (Feb 28, 2023)	criteria provided, single submitter
Select item 16874943.	NM_173477.5(USH1G):c.22G>C (p.Ala8Pro) GRCh37: Chr17:72919147 GRCh38: Chr17:74923052	USH1G	A8P	Usher syndrome type 1G	Uncertain significance (May 22, 2022)	criteria provided, single submitter
Select item 13237454.	NM_173477.5(USH1G):c.711del (p.Arg238fs) GRCh37: Chr17:72916220 GRCh38: Chr17:74920125	USH1G	R135fs, R238fs	Usher syndrome type 1G	Pathogenic (Mar 26, 2020)	criteria provided, single submitter
Select item 13237445.	NM_173477.5(USH1G):c.387dup (p.Lys130fs) GRCh37: Chr17:72916543-72916544 GRCh38: Chr17:74920448-74920449	USH1G	K130fs, K27fs	Usher syndrome type 1G	Pathogenic (Jan 23, 2023)	criteria provided, single submitter
Select item 12547066.	NM_173477.5(USH1G):c.191G>A (p.Trp64Ter) GRCh37: Chr17:72916740 GRCh38: Chr17:74920645	USH1G	W64*	Usher syndrome type 1G, not provided	Pathogenic/Likely pathogenic (Sep 17, 2021)	criteria provided, multiple submitters, no conflicts
Select item 10234497.	NM_173477.5(USH1G):c.164+5G>A GRCh37: Chr17:72919000 GRCh38: Chr17:74922905	USH1G		not provided, Usher syndrome type 1G	Conflicting interpretations of pathogenicity (Sep 1, 2022)	criteria provided, conflicting interpretations
Select item 9359268.	NM_173477.5(USH1G):c.859A>G (p.Thr287Ala) GRCh37: Chr17:72916072 GRCh38: Chr17:74919977	USH1G	T184A, T287A	Usher syndrome type 1G, not provided	Uncertain significance (Oct 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 8919069.	NM_173477.5(USH1G):c.-76A>G GRCh37: Chr17:72919244 GRCh38: Chr17:74923149	USH1G		Usher syndrome type 1G	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89190510.	NM_173477.5(USH1G):c.126T>C (p.His42=) GRCh37: Chr17:72919043 GRCh38: Chr17:74922948	USH1G		not provided, Usher syndrome type 1G	Conflicting interpretations of pathogenicity (Aug 19, 2022)	criteria provided, conflicting interpretations
Select item 89190411.	NM_173477.5(USH1G):c.327C>T (p.Gly109=) GRCh37: Chr17:72916604 GRCh38: Chr17:74920509	USH1G		not provided, Usher syndrome type 1G	Conflicting interpretations of pathogenicity (Mar 14, 2022)	criteria provided, conflicting interpretations
Select item 89184412.	NM_173477.5(USH1G):c.*482C>T GRCh37: Chr17:72913685 GRCh38: Chr17:74917591	USH1G		Usher syndrome type 1G	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 89184313.	NM_173477.5(USH1G):c.*567C>G GRCh37: Chr17:72913600 GRCh38: Chr17:74917506	USH1G		Usher syndrome type 1G	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89184214.	NM_173477.5(USH1G):c.*680C>G GRCh37: Chr17:72913487 GRCh38: Chr17:74917393	USH1G		Usher syndrome type 1G	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89184115.	NM_173477.5(USH1G):c.*704G>A GRCh37: Chr17:72913463 GRCh38: Chr17:74917369	USH1G		Usher syndrome type 1G	Uncertain significance (Mar 2, 2018)	criteria provided, single submitter
Select item 89177516.	NM_173477.5(USH1G):c.*1922A>G GRCh37: Chr17:72912243 GRCh38: Chr17:74916151	USH1G		Usher syndrome type 1G	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89158817.	NM_173477.5(USH1G):c.*776G>A GRCh37: Chr17:72913391 GRCh38: Chr17:74917297	USH1G		Usher syndrome type 1G	Likely benign (Apr 27, 2017)	criteria provided, single submitter
Select item 89158718.	NM_173477.5(USH1G):c.*831C>T GRCh37: Chr17:72913336 GRCh38: Chr17:74917242	USH1G		Usher syndrome type 1G	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89158619.	NM_173477.5(USH1G):c.*940C>G GRCh37: Chr17:72913227 GRCh38: Chr17:74917133	USH1G		Usher syndrome type 1G	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 89158520.	NM_173477.5(USH1G):c.*1052C>T GRCh37: Chr17:72913115 GRCh38: Chr17:74917021	USH1G		Usher syndrome type 1G	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89066621.	NM_173477.5(USH1G):c.424G>C (p.Glu142Gln) GRCh37: Chr17:72916507 GRCh38: Chr17:74920412	USH1G	E39Q, E142Q	Usher syndrome type 1G, not provided	Uncertain significance (Aug 26, 2021)	criteria provided, multiple submitters, no conflicts
Select item 89008522.	NM_173477.5(USH1G):c.1142T>C (p.Leu381Ser) GRCh37: Chr17:72915789 GRCh38: Chr17:74919694	USH1G	L278S, L381S	Usher syndrome type 1G	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89003523.	NM_173477.5(USH1G):c.*1098T>A GRCh37: Chr17:72913067 GRCh38: Chr17:74916975	USH1G		Usher syndrome type 1G	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 89003424.	NM_173477.5(USH1G):c.*1112C>T GRCh37: Chr17:72913053 GRCh38: Chr17:74916961	USH1G		Usher syndrome type 1G	Benign (Apr 27, 2017)	criteria provided, single submitter
Select item 89003325.	NM_173477.5(USH1G):c.*1130T>C GRCh37: Chr17:72913035 GRCh38: Chr17:74916943	USH1G		Usher syndrome type 1G	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89003226.	NM_173477.5(USH1G):c.*1154T>A GRCh37: Chr17:72913011 GRCh38: Chr17:74916919	USH1G		Usher syndrome type 1G	Uncertain significance (Feb 2, 2018)	criteria provided, single submitter
Select item 89003127.	NM_173477.5(USH1G):c.*1174T>G GRCh37: Chr17:72912991 GRCh38: Chr17:74916899	USH1G		Usher syndrome type 1G	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89003028.	NM_173477.5(USH1G):c.*1191G>A GRCh37: Chr17:72912974 GRCh38: Chr17:74916882	USH1G		Usher syndrome type 1G	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88940129.	NM_173477.5(USH1G):c.*198T>C GRCh37: Chr17:72913970 GRCh38: Chr17:74917875	USH1G		Usher syndrome type 1G	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88940030.	NM_173477.5(USH1G):c.*233C>G GRCh37: Chr17:72913935 GRCh38: Chr17:74917840	USH1G		Usher syndrome type 1G	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88939931.	NM_173477.5(USH1G):c.*256C>T GRCh37: Chr17:72913912 GRCh38: Chr17:74917817	USH1G		Usher syndrome type 1G	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88934332.	NM_173477.5(USH1G):c.*1376G>A GRCh37: Chr17:72912789 GRCh38: Chr17:74916697	USH1G		Usher syndrome type 1G	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88934233.	NM_173477.5(USH1G):c.*1447C>T GRCh37: Chr17:72912718 GRCh38: Chr17:74916626	USH1G		Usher syndrome type 1G	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88934134.	NM_173477.5(USH1G):c.*1821C>G GRCh37: Chr17:72912344 GRCh38: Chr17:74916252	USH1G		Usher syndrome type 1G	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 85625935.	NM_173477.5(USH1G):c.1004dup (p.Leu336fs) GRCh37: Chr17:72915926-72915927 GRCh38: Chr17:74919831-74919832	USH1G	L233fs, L336fs	not provided, Usher syndrome type 1G	Pathogenic/Likely pathogenic (Feb 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 85263136.	NM_173477.5(USH1G):c.1057G>A (p.Asp353Asn) GRCh37: Chr17:72915874 GRCh38: Chr17:74919779	USH1G	D353N, D250N	not provided, Usher syndrome type 1G	Uncertain significance (Aug 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 85072637.	NM_173477.5(USH1G):c.635G>C (p.Gly212Ala) GRCh37: Chr17:72916296 GRCh38: Chr17:74920201	USH1G	G109A, G212A	not provided, Usher syndrome type 1G	Uncertain significance (Oct 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 63178638.	NM_173477.5(USH1G):c.644del (p.Lys215fs) GRCh37: Chr17:72916287 GRCh38: Chr17:74920192	USH1G	K112fs, K215fs	Usher syndrome type 1G	Uncertain significance (Nov 22, 2018)	criteria provided, single submitter
Select item 62749139.	NM_173477.5(USH1G):c.1060G>T (p.Asp354Tyr) GRCh37: Chr17:72915871 GRCh38: Chr17:74919776	USH1G	D354Y, D251Y	Usher syndrome type 1G	Pathogenic (Feb 26, 2019)	no assertion criteria provided
Select item 56091840.	NM_173477.5(USH1G):c.511G>T (p.Glu171Ter) GRCh37: Chr17:72916420 GRCh38: Chr17:74920325	USH1G	E171, E68	Usher syndrome type 1G	Pathogenic (Feb 1, 2019)	criteria provided, single submitter
Select item 51351241.	NM_173477.5(USH1G):c.1170C>T (p.Ser390=) GRCh37: Chr17:72915761 GRCh38: Chr17:74919666	USH1G		not provided, Usher syndrome type 1G	Conflicting interpretations of pathogenicity (Aug 22, 2022)	criteria provided, conflicting interpretations
Select item 32506042.	NM_173477.5(USH1G):c.-173G>C GRCh37: Chr17:72919341 GRCh38: Chr17:74923246	USH1G		Usher syndrome type 1G	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32505943.	NM_173477.5(USH1G):c.344G>A (p.Arg115His) GRCh37: Chr17:72916587 GRCh38: Chr17:74920492	USH1G	R115H, R12H	Usher syndrome type 1G	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 32505844.	NM_173477.5(USH1G):c.348C>T (p.Tyr116=) GRCh37: Chr17:72916583 GRCh38: Chr17:74920488	USH1G		Usher syndrome type 1G	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 32505745.	NM_173477.5(USH1G):c.436C>T (p.Arg146Cys) GRCh37: Chr17:72916495 GRCh38: Chr17:74920400	USH1G	R146C, R43C	Usher syndrome type 1G, not provided	Uncertain significance (Aug 25, 2021)	criteria provided, multiple submitters, no conflicts
Select item 32505646.	NM_173477.5(USH1G):c.474C>G (p.His158Gln) GRCh37: Chr17:72916457 GRCh38: Chr17:74920362	USH1G	H158Q, H55Q	Usher syndrome type 1G	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32505547.	NM_173477.5(USH1G):c.478C>G (p.Arg160Gly) GRCh37: Chr17:72916453 GRCh38: Chr17:74920358	USH1G	R160G, R57G	Usher syndrome type 1G, not provided	Uncertain significance (Jul 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 32505448.	NM_173477.5(USH1G):c.563G>T (p.Arg188Leu) GRCh37: Chr17:72916368 GRCh38: Chr17:74920273	USH1G	R188L, R85L	Usher syndrome type 1G, Inborn genetic diseases, not provided	Conflicting interpretations of pathogenicity (Jul 23, 2022)	criteria provided, conflicting interpretations
Select item 32505349.	NM_173477.5(USH1G):c.753C>T (p.Ser251=) GRCh37: Chr17:72916178 GRCh38: Chr17:74920083	USH1G		Usher syndrome type 1G	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32505250.	NM_173477.5(USH1G):c.*49C>T GRCh37: Chr17:72914119 GRCh38: Chr17:74918024	USH1G		Usher syndrome type 1G, not provided	Conflicting interpretations of pathogenicity (Jul 10, 2020)	criteria provided, conflicting interpretations
Select item 32505151.	NM_173477.5(USH1G):c.*63C>T GRCh37: Chr17:72914105 GRCh38: Chr17:74918010	USH1G		Usher syndrome type 1G, not provided	Benign (Jun 29, 2018)	criteria provided, multiple submitters, no conflicts
Select item 32505052.	NM_173477.5(USH1G):c.*95C>G GRCh37: Chr17:72914073 GRCh38: Chr17:74917978	USH1G		Usher syndrome type 1G	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32504953.	NM_173477.5(USH1G):c.*202G>A GRCh37: Chr17:72913966 GRCh38: Chr17:74917871	USH1G		Usher syndrome type 1G	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32504854.	NM_173477.5(USH1G):c.*279G>T GRCh37: Chr17:72913889 GRCh38: Chr17:74917794	USH1G		Usher syndrome type 1G	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32504655.	NM_173477.5(USH1G):c.*498G>A GRCh37: Chr17:72913669 GRCh38: Chr17:74917575	USH1G		Usher syndrome type 1G	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 32504556.	NM_173477.5(USH1G):c.*553A>C GRCh37: Chr17:72913614 GRCh38: Chr17:74917520	USH1G		Usher syndrome type 1G	Likely benign (Apr 27, 2017)	criteria provided, single submitter
Select item 32504457.	NM_173477.5(USH1G):c.*571T>A GRCh37: Chr17:72913596 GRCh38: Chr17:74917502	USH1G		Usher syndrome type 1G	Likely benign (Apr 27, 2017)	criteria provided, single submitter
Select item 32504358.	NM_173477.5(USH1G):c.*809C>A GRCh37: Chr17:72913358 GRCh38: Chr17:74917264	USH1G		Usher syndrome type 1G	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 32504259.	NM_173477.5(USH1G):c.*1018G>A GRCh37: Chr17:72913149 GRCh38: Chr17:74917055	USH1G		Usher syndrome type 1G	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32504160.	NM_173477.5(USH1G):c.*1053G>A GRCh37: Chr17:72913114 GRCh38: Chr17:74917020	USH1G		Usher syndrome type 1G	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 32504061.	NM_173477.5(USH1G):c.*1093= GRCh37: Chr17:72913072 GRCh38: Chr17:74916980	USH1G		Usher syndrome type 1G	Likely benign (Apr 27, 2017)	criteria provided, single submitter
Select item 32503962.	NM_173477.5(USH1G):c.*1119G>A GRCh37: Chr17:72913046 GRCh38: Chr17:74916954	USH1G		Usher syndrome type 1G	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32503563.	NM_173477.5(USH1G):c.*1224A>C GRCh37: Chr17:72912941 GRCh38: Chr17:74916849	USH1G		Usher syndrome type 1G	Likely benign (Apr 27, 2017)	criteria provided, single submitter
Select item 32503464.	NM_173477.5(USH1G):c.*1303C>T GRCh37: Chr17:72912862 GRCh38: Chr17:74916770	USH1G		Usher syndrome type 1G	Likely benign (Apr 27, 2017)	criteria provided, single submitter
Select item 32503365.	NM_173477.5(USH1G):c.*1656T>C GRCh37: Chr17:72912509 GRCh38: Chr17:74916417	USH1G		Usher syndrome type 1G	Likely benign (Apr 27, 2017)	criteria provided, single submitter
Select item 32503266.	NM_173477.5(USH1G):c.*1719G>T GRCh37: Chr17:72912446 GRCh38: Chr17:74916354	USH1G		Usher syndrome type 1G	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32503167.	NM_173477.5(USH1G):c.*1732C>T GRCh37: Chr17:72912433 GRCh38: Chr17:74916341	USH1G		Usher syndrome type 1G	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 32503068.	NM_173477.5(USH1G):c.*1900G>C GRCh37: Chr17:72912265 GRCh38: Chr17:74916173	USH1G		Usher syndrome type 1G	Benign (Apr 27, 2017)	criteria provided, single submitter
Select item 32502869.	NM_173477.5(USH1G):c.*1987C>T GRCh37: Chr17:72912178 GRCh38: Chr17:74916086	USH1G		Usher syndrome type 1G	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 28739170.	NM_173477.5(USH1G):c.1311del (p.Lys438fs) GRCh37: Chr17:72915620 GRCh38: Chr17:74919525	USH1G	K335fs, K438fs	not provided	Pathogenic/Likely pathogenic (Apr 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 28316671.	NM_173477.5(USH1G):c.-2C>T GRCh37: Chr17:72919170 GRCh38: Chr17:74923075	USH1G		not provided, Usher syndrome type 1G	Uncertain significance (Dec 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 22961172.	NM_173477.5(USH1G):c.-8C>T GRCh37: Chr17:72919176 GRCh38: Chr17:74923081	USH1G		Usher syndrome type 1G, not specified	Uncertain significance (Apr 28, 2017)	criteria provided, multiple submitters, no conflicts
Select item 17896873.	NM_173477.5(USH1G):c.1152C>T (p.Asp384=) GRCh37: Chr17:72915779 GRCh38: Chr17:74919684	USH1G		not specified, not provided, Usher syndrome type 1G	Conflicting interpretations of pathogenicity (Oct 16, 2022)	criteria provided, conflicting interpretations
Select item 17857074.	NM_173477.5(USH1G):c.837C>G (p.Asp279Glu) GRCh37: Chr17:72916094 GRCh38: Chr17:74919999	USH1G	D279E, D176E	not provided, not specified, Usher syndrome type 1G	Conflicting interpretations of pathogenicity (Oct 25, 2022)	criteria provided, conflicting interpretations
Select item 6573975.	NM_001384140.1(PCDH15):c.394dup (p.Glu132fs) GRCh37: Chr10:56128959-56128960 GRCh38: Chr10:54369199-54369200	PCDH15	E110fs, E132fs, E137fs	Usher syndrome type 1G	not provided	no assertion provided
Select item 4813976.	NM_173477.5(USH1G):c.83C>T (p.Pro28Leu) GRCh37: Chr17:72919086 GRCh38: Chr17:74922991	USH1G	P28L	not provided, not specified, Usher syndrome type 1G	Conflicting interpretations of pathogenicity (Oct 17, 2022)	criteria provided, conflicting interpretations
Select item 4813477.	NM_173477.5(USH1G):c.566G>A (p.Arg189Gln) GRCh37: Chr17:72916365 GRCh38: Chr17:74920270	USH1G	R189Q, R86Q	not specified, not provided, Usher syndrome type 1G	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 4813278.	NM_173477.5(USH1G):c.501C>G (p.Arg167=) GRCh37: Chr17:72916430 GRCh38: Chr17:74920335	USH1G		not specified, not provided, Usher syndrome type 1G	Conflicting interpretations of pathogenicity (Nov 3, 2022)	criteria provided, conflicting interpretations
Select item 4813179.	NM_173477.5(USH1G):c.424G>A (p.Glu142Lys) GRCh37: Chr17:72916507 GRCh38: Chr17:74920412	USH1G	E142K, E39K	not specified, not provided, Usher syndrome type 1G	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4813080.	NM_173477.5(USH1G):c.388A>G (p.Lys130Glu) GRCh37: Chr17:72916543 GRCh38: Chr17:74920448	USH1G	K130E, K27E	not provided, not specified, Usher syndrome type 1G	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4812781.	NM_173477.5(USH1G):c.1373A>T (p.Asp458Val) GRCh37: Chr17:72915558 GRCh38: Chr17:74919463	USH1G	D458V, D355V	Rare genetic deafness, not provided, Usher syndrome type 1G	Pathogenic/Likely pathogenic (Jan 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4812682.	NM_173477.5(USH1G):c.1258C>G (p.Leu420Val) GRCh37: Chr17:72915673 GRCh38: Chr17:74919578	USH1G	L420V, L317V	not provided, not specified, Usher syndrome type 1G	Conflicting interpretations of pathogenicity (Oct 25, 2022)	criteria provided, conflicting interpretations
Select item 3157783.	NM_173477.5(USH1G):c.163_164+13del GRCh37: Chr17:72918992-72919006 GRCh38: Chr17:74922897-74922911	USH1G		Usher syndrome type 1G	Pathogenic (Dec 1, 2010)	no assertion criteria provided
Select item 493384.	NM_001384140.1(PCDH15):c.733C>T (p.Arg245Ter) GRCh37: Chr10:56077174 GRCh38: Chr10:54317414	PCDH15	R245, R208, R223, R250	Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 23, Usher syndrome type 1D, Usher syndrome type 1F, Usher syndrome type 1, not provided, Usher syndrome type 1F, Usher syndrome type 1D	Pathogenic (Jan 24, 2023)	criteria provided, multiple submitters, no conflicts
Select item 291885.	NM_173477.5(USH1G):c.113G>A (p.Trp38Ter) GRCh37: Chr17:72919056 GRCh38: Chr17:74922961	USH1G	W38*	not provided	Pathogenic (Aug 31, 2021)	criteria provided, single submitter
Select item 291786.	NM_173477.5(USH1G):c.394dup (p.Val132fs) GRCh37: Chr17:72916536-72916537 GRCh38: Chr17:74920441-74920442	USH1G	V29fs, V132fs	Usher syndrome type 1G	Pathogenic (Mar 1, 2003)	no assertion criteria provided
Select item 291687.	NM_173477.5(USH1G):c.832_851del (p.Ser278fs) GRCh37: Chr17:72916080-72916099 GRCh38: Chr17:74919985-74920004	USH1G	S175fs, S278fs	Usher syndrome type 1G	Pathogenic (Nov 28, 2016)	criteria provided, single submitter
Select item 291588.	NM_173477.5(USH1G):c.186_187del (p.Ile63fs) GRCh37: Chr17:72916744-72916745 GRCh38: Chr17:74920649-74920650	USH1G	I63fs	Usher syndrome type 1G	Pathogenic (Mar 1, 2003)	no assertion criteria provided
Select item 291489.	NM_173477.5(USH1G):c.143T>C (p.Leu48Pro) GRCh37: Chr17:72919026 GRCh38: Chr17:74922931	USH1G	L48P	Usher syndrome type 1G	Pathogenic (Mar 1, 2003)	no assertion criteria provided

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Items: 89