ClinVar for MedGen (Select 78754) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25012681.	NM_032119.4(ADGRV1):c.6219_6228dup (p.Glu2077fs) GRCh37: Chr5:89979953-89979954 GRCh38: Chr5:90684136-90684137	ADGRV1	E2077fs	Usher syndrome	Likely pathogenic (Mar 9, 2023)	criteria provided, single submitter
Select item 25012452.	NM_022124.6(CDH23):c.1152C>A (p.Ser384Arg) GRCh37: Chr10:73405599 GRCh38: Chr10:71645842	CDH23	S384R	Usher syndrome	Pathogenic (Mar 24, 2023)	criteria provided, single submitter
Select item 25010233.	NM_206933.4(USH2A):c.698del (p.Asp233fs) GRCh37: Chr1:216538381 GRCh38: Chr1:216365039	USH2A	D233fs	Usher syndrome	Likely pathogenic (Mar 23, 2023)	criteria provided, single submitter
Select item 25010224.	NM_206933.4(USH2A):c.703dup (p.Thr235fs) GRCh37: Chr1:216538375-216538376 GRCh38: Chr1:216365033-216365034	USH2A	T235fs	Usher syndrome	Likely pathogenic (Mar 20, 2023)	criteria provided, single submitter
Select item 24459685.	NM_206933.4(USH2A):c.5144A>G (p.Glu1715Gly) GRCh37: Chr1:216258063 GRCh38: Chr1:216084721	USH2A, USH2A-AS2	E1715G	Usher syndrome	Likely pathogenic (Feb 24, 2023)	criteria provided, single submitter
Select item 24459476.	NC_000001.10:g.(216373464_216380614)_(216380774_216390728)del GRCh37: Chr1:216373464-216390728	USH2A		Usher syndrome	Likely pathogenic (Feb 22, 2023)	criteria provided, single submitter
Select item 24459407.	NM_032119.4(ADGRV1):c.2898+2T>C GRCh37: Chr5:89940688 GRCh38: Chr5:90644871	ADGRV1		Usher syndrome	Likely pathogenic (Feb 21, 2023)	criteria provided, single submitter
Select item 24459258.	NM_015404.4(WHRN):c.375del (p.Ala126fs) GRCh37: Chr9:117266707 GRCh38: Chr9:114504427	WHRN	A126fs	Usher syndrome	Likely pathogenic (Feb 20, 2023)	criteria provided, single submitter
Select item 24459089.	NM_032119.4(ADGRV1):c.13156del (p.Val4386fs) GRCh37: Chr5:90077320 GRCh38: Chr5:90781503	ADGRV1	V4386fs	Usher syndrome	Likely pathogenic (Feb 19, 2023)	criteria provided, single submitter
Select item 244569210.	NM_022124.6(CDH23):c.9278+2T>A GRCh37: Chr10:73571349 GRCh38: Chr10:71811592	CDH23		Usher syndrome	Likely pathogenic (Feb 27, 2023)	criteria provided, single submitter
Select item 242932311.	NM_206933.4(USH2A):c.12211_12212del (p.Asn4071fs) GRCh37: Chr1:215853573-215853574 GRCh38: Chr1:215680231-215680232	USH2A	N4071fs	Usher syndrome	Likely pathogenic (Jan 11, 2023)	criteria provided, single submitter
Select item 242932212.	NC_000001.10:g.(215963625_215972248)_(216074248_216107957)del GRCh37: Chr1:215963625-216107957	USH2A		Usher syndrome	Likely pathogenic (Jan 10, 2023)	criteria provided, single submitter
Select item 242931513.	NM_173477.5(USH1G):c.607C>T (p.Gln203Ter) GRCh37: Chr17:72916324 GRCh38: Chr17:74920229	USH1G	Q100, Q203	Usher syndrome	Likely pathogenic (Jan 21, 2023)	criteria provided, single submitter
Select item 187839214.	NM_032119.4(ADGRV1):c.13273_13280del (p.Leu4425fs) GRCh37: Chr5:90078980-90078987 GRCh38: Chr5:90783163-90783170	ADGRV1	L4425fs	Usher syndrome, not provided	Pathogenic/Likely pathogenic (Dec 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 187837215.	NM_206933.4(USH2A):c.7479_7480dup (p.Ser2494fs) GRCh37: Chr1:216073530-216073531 GRCh38: Chr1:215900188-215900189	USH2A	S2494fs	Usher syndrome	Likely pathogenic (Dec 22, 2022)	criteria provided, single submitter
Select item 187834516.	NM_032119.4(ADGRV1):c.10075G>T (p.Glu3359Ter) GRCh37: Chr5:90021387 GRCh38: Chr5:90725570	ADGRV1	E3359*	Usher syndrome	Likely pathogenic (Dec 19, 2022)	criteria provided, single submitter
Select item 180484217.	NM_032119.4(ADGRV1):c.18646del (p.Ala6216fs) GRCh37: Chr5:90449059 GRCh38: Chr5:91153242	ADGRV1	A6216fs	Usher syndrome	Likely pathogenic (Nov 17, 2022)	criteria provided, single submitter
Select item 170519318.	NC_000005.9:g.(90136803_90144453)_(90159675_90261231)dup GRCh37: Chr5:90136803-90261231	ADGRV1		Usher syndrome	Likely pathogenic (Aug 24, 2022)	criteria provided, single submitter
Select item 170460319.	NM_032119.4(ADGRV1):c.6778C>T (p.Arg2260Ter) GRCh37: Chr5:89986685 GRCh38: Chr5:90690868	ADGRV1	R2260*	Usher syndrome	Likely pathogenic (Jul 18, 2022)	criteria provided, single submitter
Select item 169857620.	NC_000005.9:g.(89914999_89918413)_(89954096_89968362)del GRCh37: Chr5:89914999-89968362	ADGRV1		Usher syndrome	Likely pathogenic (Jun 1, 2022)	criteria provided, single submitter
Select item 169599521.	NM_032119.4(ADGRV1):c.16196+1G>T GRCh37: Chr5:90111554 GRCh38: Chr5:90815737	ADGRV1		Usher syndrome	Likely pathogenic (May 23, 2022)	criteria provided, single submitter
Select item 168341322.	NM_206933.4(USH2A):c.14010_14016del (p.Glu4671fs) GRCh37: Chr1:215844431-215844437 GRCh38: Chr1:215671089-215671095	USH2A	E4671fs	Usher syndrome	Likely pathogenic (Apr 14, 2022)	criteria provided, single submitter
Select item 167707123.	NC_000010.10:g.(73454017_73455174)_73468962del GRCh37: Chr10:73454017-73468962	CDH23		Usher syndrome	Likely pathogenic (Mar 9, 2022)	criteria provided, single submitter
Select item 145600324.	NM_206933.4(USH2A):c.4217C>A (p.Ser1406Ter) GRCh37: Chr1:216369929 GRCh38: Chr1:216196587	USH2A, USH2A-AS1	S1406*	Usher syndrome, not provided	Pathogenic (Nov 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 144051125.	NM_206933.4(USH2A):c.14885dup (p.Glu4963fs) GRCh37: Chr1:215813982-215813983 GRCh38: Chr1:215640640-215640641	USH2A	E4963fs	Usher syndrome, not provided	Pathogenic/Likely pathogenic (Nov 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 142386626.	NM_206933.4(USH2A):c.9440G>A (p.Trp3147Ter) GRCh37: Chr1:215990469 GRCh38: Chr1:215817127	USH2A	W3147*	Usher syndrome, not provided	Pathogenic/Likely pathogenic (Apr 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 138734727.	NM_206933.4(USH2A):c.7862del (p.Pro2621fs) GRCh37: Chr1:216062129 GRCh38: Chr1:215888787	USH2A	P2621fs	Usher syndrome, not provided	Pathogenic/Likely pathogenic (Feb 18, 2023)	criteria provided, multiple submitters, no conflicts
Select item 135678128.	NM_206933.4(USH2A):c.3546T>A (p.Tyr1182Ter) GRCh37: Chr1:216373234 GRCh38: Chr1:216199892	USH2A, USH2A-AS1	Y1182*	Usher syndrome, not provided	Pathogenic/Likely pathogenic (Apr 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 135404229.	NM_032119.4(ADGRV1):c.5944dup (p.Ser1982fs) GRCh37: Chr5:89979676-89979677 GRCh38: Chr5:90683859-90683860	ADGRV1	S1982fs	not provided, Usher syndrome	Pathogenic/Likely pathogenic (Jun 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 134376630.	NC_000001.10:g.(216462753_216465516)_(216465713_216495224)del GRCh37: Chr1:216462753-216495224	USH2A		Usher syndrome	Pathogenic (Feb 17, 2022)	criteria provided, single submitter
Select item 134149731.	NM_022124.6(CDH23):c.5535C>A (p.Asn1845Lys) GRCh37: Chr10:73544680 GRCh38: Chr10:71784923	CDH23	N1845K	Usher syndrome	Pathogenic (Feb 12, 2022)	no assertion criteria provided
Select item 133993632.	GRCh37/hg19 10q22.1(chr10:73405588-73406374)x1 GRCh37: Chr10:73405588-73406374	CDH23		Usher syndrome	not provided	no assertion provided
Select item 133972533.	NM_173477.5(USH1G):c.502G>T (p.Glu168Ter) GRCh37: Chr17:72916429 GRCh38: Chr17:74920334	USH1G	E168, E65	Usher syndrome	Likely pathogenic (Jan 19, 2022)	criteria provided, single submitter
Select item 133144834.	NM_174878.3(CLRN1):c.190G>A (p.Gly64Arg) GRCh37: Chr3:150690306 GRCh38: Chr3:150972519	CLRN1	G64R	Usher syndrome, not provided	Pathogenic/Likely pathogenic (Oct 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 132905035.	NC_000005.9:g.(90150019_90151557)_(90151719_90159573)del GRCh37: Chr5:90150019-90159573	ADGRV1		Usher syndrome	Likely pathogenic (Nov 2, 2021)	criteria provided, single submitter
Select item 132904936.	NC_000005.9:g.(89988604_89989706)_(90074915_90077246)del GRCh37: Chr5:89988604-90077246	ADGRV1		Usher syndrome	Likely pathogenic (Nov 15, 2021)	criteria provided, single submitter
Select item 132145137.	NM_032119.4(ADGRV1):c.7130G>A (p.Arg2377Gln) GRCh37: Chr5:89988600 GRCh38: Chr5:90692783	ADGRV1	R2377Q	not specified, not provided	Conflicting interpretations of pathogenicity (Jan 11, 2022)	criteria provided, conflicting interpretations
Select item 130138538.	NM_206933.4(USH2A):c.1888del (p.Ala630fs) GRCh37: Chr1:216462705 GRCh38: Chr1:216289363	USH2A	A630fs	Usher syndrome	Likely pathogenic (Sep 2, 2021)	criteria provided, single submitter
Select item 118507439.	NM_206933.4(USH2A):c.14969-2A>G GRCh37: Chr1:215812582 GRCh38: Chr1:215639240	USH2A		Usher syndrome	Likely pathogenic (Apr 7, 2022)	criteria provided, single submitter
Select item 112006340.	NC_000001.10:g.(?_216011333)_(216040512_?)del GRCh37: Chr1:216011333-216040512	USH2A		Usher syndrome	Likely pathogenic (Jun 19, 2020)	criteria provided, single submitter
Select item 109877241.	NM_032119.4(ADGRV1):c.9749-2del GRCh37: Chr5:90020647 GRCh38: Chr5:90724830	ADGRV1		not provided, Usher syndrome, Febrile seizures, familial, 4	Pathogenic/Likely pathogenic (Jul 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 107050242.	NM_022124.6(CDH23):c.5300_5303dup (p.His1769fs) GRCh37: Chr10:73539134-73539135 GRCh38: Chr10:71779377-71779378	CDH23	H1769fs	Usher syndrome, not provided	Pathogenic/Likely pathogenic (Mar 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 106977943.	NM_206933.4(USH2A):c.4251+1del GRCh37: Chr1:216369894 GRCh38: Chr1:216196552	USH2A-AS1, USH2A		Usher syndrome, not provided, Retinitis pigmentosa 39	Pathogenic/Likely pathogenic (Jan 21, 2023)	criteria provided, multiple submitters, no conflicts
Select item 106715544.	NM_022124.6(CDH23):c.8064+1G>A GRCh37: Chr10:73565755 GRCh38: Chr10:71805998	CDH23, LOC111982869		not provided, Usher syndrome	Likely pathogenic (Dec 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 106700045.	NM_206933.4(USH2A):c.11390-1G>A GRCh37: Chr1:215916678 GRCh38: Chr1:215743336	USH2A		not provided	Likely pathogenic (Aug 26, 2021)	criteria provided, single submitter
Select item 106616646.	NM_206933.4(USH2A):c.7300+1G>C GRCh37: Chr1:216107957 GRCh38: Chr1:215934615	USH2A		Usher syndrome, not provided	Likely pathogenic (Mar 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 106503747.	NM_032119.4(ADGRV1):c.6730G>A (p.Val2244Ile) GRCh37: Chr5:89986637 GRCh38: Chr5:90690820	ADGRV1	V2244I	Febrile seizures, familial, 4, Usher syndrome type 2C, Usher syndrome, not provided	Uncertain significance (Jun 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 106493948.	NM_004086.3(COCH):c.731C>T (p.Thr244Ile) GRCh37: Chr14:31353860 GRCh38: Chr14:30884654	COCH, LOC100506071	T244I, T309I	Usher syndrome	Uncertain significance (Apr 12, 2021)	criteria provided, single submitter
Select item 106490049.	NM_001692.4(ATP6V1B1):c.1025T>G (p.Ile342Ser) GRCh37: Chr2:71190407 GRCh38: Chr2:70963277	ATP6V1B1	I342S	Usher syndrome	Uncertain significance (Apr 12, 2021)	criteria provided, single submitter
Select item 105688850.	NM_206933.4(USH2A):c.4124C>T (p.Ser1375Leu) GRCh37: Chr1:216370022 GRCh38: Chr1:216196680	USH2A, USH2A-AS1	S1375L	Usher syndrome, not provided, Retinitis pigmentosa 39	Conflicting interpretations of pathogenicity (Feb 17, 2023)	criteria provided, conflicting interpretations
Select item 104220151.	NM_206933.4(USH2A):c.838C>T (p.Leu280Phe) GRCh37: Chr1:216500943 GRCh38: Chr1:216327601	USH2A	L280F	not provided, Usher syndrome	Pathogenic/Likely pathogenic (Dec 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 99242352.	NM_174878.3(CLRN1):c.188A>C (p.Tyr63Ser) GRCh37: Chr3:150690308 GRCh38: Chr3:150972521	CLRN1	Y63S	Usher syndrome type 3A, Usher syndrome	Pathogenic/Likely pathogenic (Feb 12, 2022)	no assertion criteria provided
Select item 98702153.	NM_206933.4(USH2A):c.1144-2A>T GRCh37: Chr1:216497696 GRCh38: Chr1:216324354	USH2A		Usher syndrome, not provided, Usher syndrome type 2A, Retinitis pigmentosa 39	Pathogenic (Mar 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 98146354.	NM_000554.6(CRX):c.29A>G (p.His10Arg) GRCh37: Chr19:48337729 GRCh38: Chr19:47834472	CRX	H10R	Usher syndrome	Uncertain significance (Jun 5, 2020)	criteria provided, single submitter
Select item 95558155.	NM_022124.6(CDH23):c.913del (p.Leu305fs) GRCh37: Chr10:73375337 GRCh38: Chr10:71615580	CDH23	L305fs	Usher syndrome, not provided	Pathogenic/Likely pathogenic (Oct 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 93002956.	NC_000010.11:g.(?_71645831)_(71646617_?)del GRCh37: Chr10:73405588-73406374	CDH23		Usher syndrome	Likely pathogenic (Mar 18, 2020)	criteria provided, single submitter
Select item 92993957.	NM_000260.4(MYO7A):c.1798-7_1800delinsATCGGCTGCT GRCh37: Chr11:76883787-76883796 GRCh38: Chr11:77172741-77172750	MYO7A		Usher syndrome, not provided, Usher syndrome type 1	Pathogenic/Likely pathogenic (Jun 18, 2021)	criteria provided, multiple submitters, no conflicts
Select item 86671058.	NM_032119.4(ADGRV1):c.16436del (p.Asn5479fs) GRCh37: Chr5:90124827 GRCh38: Chr5:90829010	ADGRV1	N5479fs	not provided, Retinal dystrophy, Usher syndrome	Pathogenic/Likely pathogenic (Feb 20, 2023)	criteria provided, multiple submitters, no conflicts
Select item 86611059.	NM_032119.4(ADGRV1):c.12697dup (p.Ser4233fs) GRCh37: Chr5:90074268-90074269 GRCh38: Chr5:90778451-90778452	ADGRV1	S4233fs	Usher syndrome, Retinal dystrophy, not provided	Pathogenic/Likely pathogenic (Dec 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 86134860.	NM_206933.4(USH2A):c.4732C>T (p.Arg1578Cys) GRCh37: Chr1:216270451 GRCh38: Chr1:216097109	USH2A	R1578C	Retinitis pigmentosa 39, Usher syndrome, not provided	Pathogenic/Likely pathogenic (Aug 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 85999161.	NM_206933.4(USH2A):c.10074C>A (p.Cys3358Ter) GRCh37: Chr1:215963509 GRCh38: Chr1:215790167	USH2A	C3358*	Usher syndrome, not provided	Pathogenic/Likely pathogenic (Jan 19, 2023)	criteria provided, multiple submitters, no conflicts
Select item 84189862.	NM_001384140.1(PCDH15):c.3984-6A>G GRCh37: Chr10:55591299 GRCh38: Chr10:53831539	PCDH15		not provided	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 83454363.	NM_206933.4(USH2A):c.7075_7076del (p.Leu2359fs) GRCh37: Chr1:216138703-216138704 GRCh38: Chr1:215965361-215965362	USH2A	L2359fs	Usher syndrome, not provided	Pathogenic/Likely pathogenic (Mar 31, 2023)	criteria provided, multiple submitters, no conflicts
Select item 81695364.	NM_006383.4(CIB2):c.97C>T (p.Arg33Ter) GRCh37: Chr15:78403608 GRCh38: Chr15:78111266	CIB2	R33*	Usher syndrome, not provided	Pathogenic (Feb 19, 2023)	criteria provided, multiple submitters, no conflicts
Select item 81311665.	NM_206933.4(USH2A):c.15063_15081delinsGC (p.Thr5022fs) GRCh37: Chr1:215808017-215808035 GRCh38: Chr1:215634675-215634693	USH2A	T5022fs	Usher syndrome, Retinal dystrophy, Usher syndrome type 2, not provided	Pathogenic/Likely pathogenic (Jul 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 81245866.	NM_206933.4(USH2A):c.2296T>C (p.Cys766Arg) GRCh37: Chr1:216420440 GRCh38: Chr1:216247098	USH2A	C766R	Usher syndrome, Usher syndrome type 2A, Retinitis pigmentosa 39, Retinal dystrophy, not provided, Retinitis pigmentosa	Pathogenic/Likely pathogenic (Mar 22, 2023)	criteria provided, multiple submitters, no conflicts
Select item 81244567.	NM_206933.3(USH2A):c.[12448A>G;5012G>A] GRCh37: Chr1:216258195 Chr1:215848805 GRCh38: Chr1:216084853 Chr1:215675463	USH2A, USH2A-AS2, USH2A	G1671D, T4150A	Retinitis pigmentosa	Likely pathogenic (Jun 23, 2019)	no assertion criteria provided
Select item 68182268.	NM_206933.4(USH2A):c.7167C>T (p.Ser2389=) GRCh37: Chr1:216108091 GRCh38: Chr1:215934749	USH2A		Usher syndrome	Likely benign (May 26, 2020)	reviewed by expert panel FDA Recognized Database
Select item 66738669.	NM_001384140.1(PCDH15):c.1167del (p.Asn389fs) GRCh37: Chr10:55955581 GRCh38: Chr10:54195821	PCDH15	N352fs, N389fs, N394fs, N367fs	Usher syndrome	Likely pathogenic (Jan 22, 2019)	criteria provided, single submitter
Select item 63614270.	NM_206933.2(USH2A):c.(1971+1_1972-1)_(2993+1_2994-1)dup	USH2A		Usher syndrome	Likely pathogenic (Apr 1, 2018)	no assertion criteria provided
Select item 63612771.	NM_206933.4(USH2A):c.8254G>A (p.Gly2752Arg) GRCh37: Chr1:216052410 GRCh38: Chr1:215879068	USH2A	G2752R	Usher syndrome, Retinal dystrophy, not provided, Usher syndrome type 2A	Pathogenic/Likely pathogenic (Mar 6, 2023)	criteria provided, multiple submitters, no conflicts
Select item 63515972.	NM_032119.4(ADGRV1):c.14315C>G (p.Ser4772Ter) GRCh37: Chr5:90086961 GRCh38: Chr5:90791144	ADGRV1	S4772*	Usher syndrome	Pathogenic (Dec 13, 2017)	no assertion criteria provided
Select item 63245473.	NM_002109.6(HARS1):c.629_630+4del GRCh37: Chr5:140057489-140057494 GRCh38: Chr5:140677904-140677909	HARS1		Usher syndrome	Uncertain significance (Aug 28, 2017)	criteria provided, single submitter
Select item 62065874.	NM_007186.6(CEP250):c.3463C>T (p.Arg1155Ter) GRCh37: Chr20:34085704 GRCh38: Chr20:35497875	CEP250	R1155, R523	Cone-rod dystrophy and hearing loss 2	Likely pathogenic (Feb 14, 2020)	criteria provided, single submitter
Select item 61917175.	NM_022124.6(CDH23):c.6083A>C (p.Asp2028Ala) GRCh37: Chr10:73550922 GRCh38: Chr10:71791165	CDH23	D2028A	not provided, Usher syndrome	Pathogenic/Likely pathogenic (Oct 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 58525276.	NM_001267727.2(ARSG):c.133G>T (p.Asp45Tyr) GRCh37: Chr17:66303767 GRCh38: Chr17:68307626	ARSG	D45Y	Usher syndrome, type 4, Usher syndrome	Pathogenic (Aug 3, 2021)	no assertion criteria provided
Select item 56052377.	NM_206933.4(USH2A):c.6722C>T (p.Pro2241Leu) GRCh37: Chr1:216166445 GRCh38: Chr1:215993103	USH2A	P2241L	Retinitis pigmentosa, Usher syndrome, not provided, Retinitis pigmentosa 39	Pathogenic/Likely pathogenic (Nov 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 56051778.	NM_206933.2(USH2A):c.[15319C>T;3902G>T] GRCh37: Chr1:216371836 Chr1:215802356 GRCh38: Chr1:216198494 Chr1:215629014	USH2A, USH2A-AS1, USH2A	G1301V, P5107S	Retinitis pigmentosa 39	Uncertain significance (Sep 1, 2016)	no assertion criteria provided
Select item 56051679.	NM_206933.2(USH2A):c.[2299del;4714C>T] GRCh37: Chr1:216420437 Chr1:216270469 GRCh38: Chr1:216247095 Chr1:216097127	USH2A, USH2A	E767fs, L1572F	Usher syndrome type 2A	Pathogenic (Sep 1, 2016)	no assertion criteria provided
Select item 56048480.	NM_006017.3(PROM1):c.1983+5G>T GRCh37: Chr4:15992840 GRCh38: Chr4:15991217	PROM1		Usher syndrome	Uncertain significance (Sep 1, 2016)	no assertion criteria provided
Select item 56048381.	NM_006017.3(PROM1):c.1462G>T (p.Gly488Ter) GRCh37: Chr4:16002235 GRCh38: Chr4:16000612	PROM1	G488, G479	Usher syndrome	Pathogenic (Sep 1, 2016)	no assertion criteria provided
Select item 55716782.	NM_206933.4(USH2A):c.2610C>A (p.Cys870Ter) GRCh37: Chr1:216420126 GRCh38: Chr1:216246784	LOC122152296, USH2A	C870*	Retinal dystrophy, not provided, Rare genetic deafness, Usher syndrome, Usher syndrome type 2A, Retinitis pigmentosa 39, Usher syndrome type 2A	Pathogenic (Feb 3, 2023)	criteria provided, multiple submitters, no conflicts
Select item 55688183.	NM_000260.4(MYO7A):c.1997G>A (p.Arg666Gln) GRCh37: Chr11:76885863 GRCh38: Chr11:77174817	MYO7A	R666Q, R655Q	Usher syndrome	Uncertain significance (May 20, 2020)	reviewed by expert panel FDA Recognized Database
Select item 55644984.	NM_206933.4(USH2A):c.5399G>A (p.Trp1800Ter) GRCh37: Chr1:216251604 GRCh38: Chr1:216078262	USH2A, USH2A-AS2	W1800*	Usher syndrome, Retinal dystrophy, Usher syndrome type 2A, Retinitis pigmentosa 39, not provided, Usher syndrome type 2A	Pathogenic (Nov 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 55633485.	NM_206933.4(USH2A):c.13217T>C (p.Leu4406Pro) GRCh37: Chr1:215848036 GRCh38: Chr1:215674694	USH2A	L4406P	Usher syndrome	Uncertain significance (May 20, 2020)	reviewed by expert panel FDA Recognized Database
Select item 55591686.	NM_206933.4(USH2A):c.9469C>T (p.Gln3157Ter) GRCh37: Chr1:215990440 GRCh38: Chr1:215817098	USH2A	Q3157*	Retinitis pigmentosa 39, Usher syndrome type 2A, not provided, Usher syndrome	Pathogenic (Oct 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 55510587.	NM_206933.4(USH2A):c.11831C>A (p.Ala3944Asp) GRCh37: Chr1:215901607 GRCh38: Chr1:215728265	USH2A	A3944D	Usher syndrome type 2A, Retinitis pigmentosa 39, Usher syndrome	Likely pathogenic (May 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 55450488.	NM_206933.4(USH2A):c.43C>T (p.Gln15Ter) GRCh37: Chr1:216595636 GRCh38: Chr1:216422294	USH2A	Q15*	not provided, Usher syndrome, Usher syndrome type 2A, Retinitis pigmentosa 39	Pathogenic/Likely pathogenic (Feb 2, 2023)	criteria provided, multiple submitters, no conflicts
Select item 55411689.	NM_206933.4(USH2A):c.6902T>C (p.Leu2301Ser) GRCh37: Chr1:216144022 GRCh38: Chr1:215970680	USH2A	L2301S	Usher syndrome, Retinal dystrophy, not provided, Usher syndrome type 2A, Retinitis pigmentosa 39	Conflicting interpretations of pathogenicity (Jun 3, 2022)	criteria provided, conflicting interpretations
Select item 55403390.	NM_206933.4(USH2A):c.538T>C (p.Ser180Pro) GRCh37: Chr1:216591969 GRCh38: Chr1:216418627	USH2A	S180P	Retinitis pigmentosa 39, Usher syndrome type 2A, Usher syndrome, not provided	Conflicting interpretations of pathogenicity (Oct 17, 2022)	criteria provided, conflicting interpretations
Select item 55341291.	NM_206933.4(USH2A):c.651+1G>A GRCh37: Chr1:216591855 GRCh38: Chr1:216418513	USH2A		Retinitis pigmentosa 39, Usher syndrome type 2A, Usher syndrome, not provided	Likely pathogenic (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 55340692.	NM_206933.4(USH2A):c.15017C>T (p.Thr5006Met) GRCh37: Chr1:215812532 GRCh38: Chr1:215639190	USH2A	T5006M	Retinitis pigmentosa 39, Usher syndrome type 2A, not provided, Usher syndrome, Usher syndrome type 2A, Retinal dystrophy	Pathogenic/Likely pathogenic (Jul 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 55284993.	NM_206933.4(USH2A):c.236_239dup (p.Gln81fs) GRCh37: Chr1:216595439-216595440 GRCh38: Chr1:216422097-216422098	USH2A	Q81fs	not provided, Usher syndrome, Retinitis pigmentosa 39, Usher syndrome type 2A	Pathogenic (Oct 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 55276994.	NM_206933.4(USH2A):c.1550G>C (p.Arg517Thr) GRCh37: Chr1:216496816 GRCh38: Chr1:216323474	USH2A	R517T	Retinal dystrophy, not provided, Usher syndrome, Retinitis pigmentosa 39, Usher syndrome type 2A	Conflicting interpretations of pathogenicity (Nov 3, 2022)	criteria provided, conflicting interpretations
Select item 55244795.	NM_206933.4(USH2A):c.2167+5G>A GRCh37: Chr1:216424240 GRCh38: Chr1:216250898	USH2A		not provided, Usher syndrome, Retinal dystrophy, Retinitis pigmentosa 39, Usher syndrome type 2A, Retinitis pigmentosa 39	Pathogenic/Likely pathogenic (Jan 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 55048296.	NM_206933.4(USH2A):c.4616C>T (p.Thr1539Ile) GRCh37: Chr1:216348605 GRCh38: Chr1:216175263	USH2A	T1539I	Usher syndrome, Retinal dystrophy, Usher syndrome type 2A, not provided	Conflicting interpretations of pathogenicity (Apr 12, 2022)	criteria provided, conflicting interpretations
Select item 54998197.	NM_206933.4(USH2A):c.1859G>T (p.Cys620Phe) GRCh37: Chr1:216462734 GRCh38: Chr1:216289392	USH2A	C620F	Usher syndrome	Likely pathogenic (Feb 25, 2020)	reviewed by expert panel FDA Recognized Database
Select item 50627398.	NM_206933.4(USH2A):c.11241C>A (p.Tyr3747Ter) GRCh37: Chr1:215932085 GRCh38: Chr1:215758743	USH2A	Y3747*	Usher syndrome	Pathogenic (Sep 17, 2018)	reviewed by expert panel FDA Recognized Database
Select item 50450999.	NM_206933.4(USH2A):c.14453C>T (p.Pro4818Leu) GRCh37: Chr1:215821999 GRCh38: Chr1:215648657	USH2A	P4818L	Usher syndrome type 2A, Retinitis pigmentosa 39, Rare genetic deafness, Usher syndrome, Usher syndrome type 2A, Retinitis pigmentosa 39, not provided	Pathogenic/Likely pathogenic (Feb 15, 2023)	criteria provided, multiple submitters, no conflicts
Select item 503557100.	NM_206933.2(USH2A):c.(?_4628)_(9371_?)del GRCh37: Chr1:216011333-216270555	USH2A		Usher syndrome	Pathogenic (Mar 7, 2018)	criteria provided, single submitter

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