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 25775211.	NM_000260.4(MYO7A):c.1929dup (p.Pro644fs) GRCh37: Chr11:76883924-76883925 GRCh38: Chr11:77172878-77172879	MYO7A	P633fs, P644fs	Usher syndrome	Likely pathogenic (Jul 24, 2023)	criteria provided, single submitter
Select item 25775022.	NM_206933.4(USH2A):c.9315del (p.Val3106fs) GRCh37: Chr1:216011389 GRCh38: Chr1:215838047	USH2A	V3106fs	Usher syndrome	Likely pathogenic (Jul 24, 2023)	criteria provided, single submitter
Select item 25775013.	NM_206933.4(USH2A):c.2302T>C (p.Cys768Arg) GRCh37: Chr1:216420434 GRCh38: Chr1:216247092	USH2A	C768R	Usher syndrome	Likely pathogenic (Jul 24, 2023)	criteria provided, single submitter
Select item 25775004.	NM_206933.4(USH2A):c.14423G>A (p.Cys4808Tyr) GRCh37: Chr1:215822029 GRCh38: Chr1:215648687	USH2A	C4808Y	Usher syndrome	Uncertain significance (Jul 24, 2023)	criteria provided, single submitter
Select item 25771465.	NM_022124.6(CDH23):c.5067+1G>A GRCh37: Chr10:73537659 GRCh38: Chr10:71777902	CDH23		Usher syndrome	Likely pathogenic (Jul 21, 2023)	criteria provided, single submitter
Select item 25038726.	NM_206933.4(USH2A):c.3541_3542delinsGTCC (p.Lys1181fs) GRCh37: Chr1:216373238-216373239 GRCh38: Chr1:216199896-216199897	USH2A, USH2A-AS1	K1181fs	Usher syndrome	Likely pathogenic (Apr 4, 2023)	criteria provided, single submitter
Select item 25031017.	NM_001347.4(DGKQ):c.200C>T (p.Thr67Met) GRCh37: Chr4:967071 GRCh38: Chr4:973283	DGKQ, LOC129991967	T67M	Usher syndrome	Uncertain significance	criteria provided, single submitter
Select item 25031008.	NM_006044.4(HDAC6):c.1121C>G (p.Ala374Gly) GRCh37: ChrX:48673430 GRCh38: ChrX:48815023	HDAC6	A374G, A388G	Usher syndrome	Uncertain significance	criteria provided, single submitter
Select item 25030999.	NM_000092.5(COL4A4):c.2624del (p.Pro875fs) GRCh37: Chr2:227920753 GRCh38: Chr2:227056037	COL4A4	P875fs	Usher syndrome	Uncertain significance	criteria provided, single submitter
Select item 250309810.	NM_206933.4(USH2A):c.11639C>A (p.Ser3880Ter) GRCh37: Chr1:215914789 GRCh38: Chr1:215741447	USH2A	S3880*	Usher syndrome	Pathogenic (Dec 31, 2022)	criteria provided, single submitter
Select item 250309711.	NM_173477.5(USH1G):c.956_960delinsA (p.Arg319fs) GRCh37: Chr17:72915971-72915975 GRCh38: Chr17:74919876-74919880	USH1G	R216fs, R319fs	Usher syndrome	Pathogenic (Dec 31, 2022)	criteria provided, single submitter
Select item 250309612.	NM_001195263.2(PDZD7):c.2319_2328del (p.Ser774fs) GRCh37: Chr10:102770318-102770327 GRCh38: Chr10:101010561-101010570	PDZD7	S774fs	Usher syndrome	Pathogenic (Dec 31, 2022)	criteria provided, single submitter
Select item 250309513.	NM_001195263.2(PDZD7):c.2330_2331del (p.Arg777fs) GRCh37: Chr10:102770315-102770316 GRCh38: Chr10:101010558-101010559	PDZD7	R777fs	Usher syndrome	Pathogenic (Dec 31, 2022)	criteria provided, single submitter
Select item 250309414.	NM_206933.4(USH2A):c.5288A>T (p.Asp1763Val) GRCh37: Chr1:216256808 GRCh38: Chr1:216083466	USH2A, USH2A-AS2	D1763V	Usher syndrome	Likely pathogenic (Dec 31, 2022)	criteria provided, single submitter
Select item 250309315.	NM_032119.4(ADGRV1):c.14329C>T (p.Gln4777Ter) GRCh37: Chr5:90086975 GRCh38: Chr5:90791158	ADGRV1	Q4777*	Usher syndrome	Pathogenic (Dec 31, 2022)	criteria provided, single submitter
Select item 250309216.	NM_015404.4(WHRN):c.1817del (p.Asp606fs) GRCh37: Chr9:117169054 GRCh38: Chr9:114406774	WHRN	D223fs, D255fs, D606fs	Usher syndrome	Pathogenic (Dec 31, 2022)	criteria provided, single submitter
Select item 250309117.	NM_000260.4(MYO7A):c.5915G>A (p.Trp1972Ter) GRCh37: Chr11:76919533 GRCh38: Chr11:77208488	MYO7A	W1923, W1934, W1972*	Usher syndrome	Pathogenic (Dec 31, 2022)	criteria provided, single submitter
Select item 250309018.	NM_032119.4(ADGRV1):c.227del (p.Gly76fs) GRCh37: Chr5:89913639 GRCh38: Chr5:90617822	ADGRV1	G76fs	Usher syndrome	Pathogenic (Dec 31, 2022)	criteria provided, single submitter
Select item 250308919.	NM_032119.4(ADGRV1):c.9439C>T (p.Arg3147Ter) GRCh37: Chr5:90012538 GRCh38: Chr5:90716721	ADGRV1	R3147*	Usher syndrome	Pathogenic (Dec 31, 2022)	criteria provided, single submitter
Select item 250308820.	NM_206933.4(USH2A):c.7871del (p.Pro2624fs) GRCh37: Chr1:216062120 GRCh38: Chr1:215888778	USH2A	P2624fs	Usher syndrome	Pathogenic (Dec 31, 2022)	criteria provided, single submitter
Select item 250308721.	NM_206933.4(USH2A):c.9945dup (p.Asn3316fs) GRCh37: Chr1:215972261-215972262 GRCh38: Chr1:215798919-215798920	USH2A	N3316fs	Usher syndrome	Pathogenic (Dec 31, 2022)	criteria provided, single submitter
Select item 250308622.	NM_206933.4(USH2A):c.956G>T (p.Cys319Phe) GRCh37: Chr1:216498834 GRCh38: Chr1:216325492	USH2A	C319F	Usher syndrome	Pathogenic (Dec 31, 2022)	criteria provided, single submitter
Select item 250308523.	NM_001384140.1(PCDH15):c.1797C>A (p.Cys599Ter) GRCh37: Chr10:55892755 GRCh38: Chr10:54132995	PCDH15	C562, C577, C599, C604, C606, C611	Usher syndrome	Pathogenic (Dec 31, 2022)	criteria provided, single submitter
Select item 250308424.	NM_139173.4(SLC9B1):c.1338_1339del (p.Leu447fs) GRCh37: Chr4:103822483-103822484 GRCh38: Chr4:102901326-102901327	SLC9B1	L447fs	Usher syndrome	Pathogenic (Dec 31, 2022)	criteria provided, single submitter
Select item 250308325.	NM_032119.4(ADGRV1):c.11938C>T (p.Gln3980Ter) GRCh37: Chr5:90052976 GRCh38: Chr5:90757159	ADGRV1	Q3980*	Usher syndrome	Pathogenic (Dec 31, 2022)	criteria provided, single submitter
Select item 250308226.	NM_022124.6(CDH23):c.2878dup (p.Glu960fs) GRCh37: Chr10:73464810-73464811 GRCh38: Chr10:71705053-71705054	CDH23	E960fs	Usher syndrome	Pathogenic (Dec 31, 2022)	criteria provided, single submitter
Select item 250308127.	NM_206933.4(USH2A):c.4667T>A (p.Leu1556Ter) GRCh37: Chr1:216270516 GRCh38: Chr1:216097174	USH2A	L1556*	Usher syndrome	Pathogenic (Dec 31, 2022)	criteria provided, single submitter
Select item 250308028.	NM_206933.4(USH2A):c.14990G>A (p.Cys4997Tyr) GRCh37: Chr1:215812559 GRCh38: Chr1:215639217	USH2A	C4997Y	Usher syndrome	Likely pathogenic (Dec 31, 2022)	criteria provided, single submitter
Select item 250307929.	NM_206933.4(USH2A):c.7795C>T (p.Gln2599Ter) GRCh37: Chr1:216062196 GRCh38: Chr1:215888854	USH2A	Q2599*	Usher syndrome	Pathogenic (Dec 31, 2022)	criteria provided, single submitter
Select item 250307830.	NM_206933.4(USH2A):c.5588dup (p.Met1863fs) GRCh37: Chr1:216246626-216246627 GRCh38: Chr1:216073284-216073285	USH2A, USH2A-AS2	M1863fs	Usher syndrome	Likely pathogenic (Dec 31, 2022)	criteria provided, single submitter
Select item 250307731.	NM_206933.4(USH2A):c.12599G>A (p.Trp4200Ter) GRCh37: Chr1:215848654 GRCh38: Chr1:215675312	USH2A	W4200*	Usher syndrome	Pathogenic (Dec 31, 2022)	criteria provided, single submitter
Select item 250307632.	NM_033056.4(PCDH15):c.5861C>G (p.Ser1954Ter) GRCh37: Chr10:55581625 GRCh38: Chr10:53821865	PCDH15	S1885, S1914, S1931, S1932, S1934, S1951, S1954, S1956, S1961*	Usher syndrome	Pathogenic (Dec 31, 2022)	criteria provided, single submitter
Select item 250307533.	NM_001384140.1(PCDH15):c.705+5G>A GRCh37: Chr10:56089351 GRCh38: Chr10:54329591	PCDH15		Usher syndrome	Likely pathogenic (Dec 31, 2022)	criteria provided, single submitter
Select item 250307434.	NM_000260.4(MYO7A):c.44_51dup (p.Gln18fs) GRCh37: Chr11:76853779-76853780 GRCh38: Chr11:77142733-77142734	MYO7A	Q18fs, Q7fs	Usher syndrome	Pathogenic (Dec 31, 2022)	criteria provided, single submitter
Select item 250307335.	NM_032119.4(ADGRV1):c.2812C>T (p.Gln938Ter) GRCh37: Chr5:89940600 GRCh38: Chr5:90644783	ADGRV1	Q938*	Usher syndrome	Pathogenic (Dec 31, 2022)	criteria provided, single submitter
Select item 250307236.	NM_153676.4(USH1C):c.777del (p.Glu260fs) GRCh37: Chr11:17545008 GRCh38: Chr11:17523461	USH1C	E260fs	Usher syndrome	Pathogenic (Dec 31, 2022)	criteria provided, single submitter
Select item 250307137.	NM_206933.4(USH2A):c.1636G>T (p.Gly546Ter) GRCh37: Chr1:216495233 GRCh38: Chr1:216321891	USH2A	G546*	Usher syndrome	Pathogenic (Dec 31, 2022)	criteria provided, single submitter
Select item 250307038.	NM_000260.4(MYO7A):c.2991_2992del (p.Glu998fs) GRCh37: Chr11:76893083-76893084 GRCh38: Chr11:77182037-77182038	MYO7A	E987fs, E998fs	Usher syndrome	Pathogenic (Dec 31, 2022)	criteria provided, single submitter
Select item 250306939.	NM_033056.4(PCDH15):c.5671G>A (p.Glu1891Lys) GRCh37: Chr10:55581815 GRCh38: Chr10:53822055	PCDH15	E1822K, E1851K, E1868K, E1869K, E1871K, E1888K, E1891K, E1893K, E1898K	Usher syndrome	Likely pathogenic (Dec 31, 2022)	criteria provided, single submitter
Select item 250306840.	NM_206933.4(USH2A):c.8324T>G (p.Val2775Gly) GRCh37: Chr1:216052340 GRCh38: Chr1:215878998	USH2A	V2775G	Usher syndrome	Uncertain significance (Dec 31, 2022)	criteria provided, single submitter
Select item 250306741.	NM_206933.4(USH2A):c.14537C>T (p.Ser4846Phe) GRCh37: Chr1:215821915 GRCh38: Chr1:215648573	USH2A	S4846F	Usher syndrome	Uncertain significance (Dec 31, 2022)	criteria provided, single submitter
Select item 250306642.	NM_197964.5(FMC1):c.104A>G (p.Tyr35Cys) GRCh37: Chr7:139026234 GRCh38: Chr7:139341488	FMC1, FMC1-LUC7L2, LUC7L2	Y35C	Usher syndrome	Likely pathogenic (Dec 31, 2022)	criteria provided, single submitter
Select item 250306543.	NM_022124.6(CDH23):c.1623_1626dup (p.Thr543fs) GRCh37: Chr10:73437320-73437321 GRCh38: Chr10:71677563-71677564	CDH23	T543fs	Usher syndrome	Pathogenic (Dec 31, 2022)	criteria provided, single submitter
Select item 250306444.	NM_000260.4(MYO7A):c.3504-1G>A GRCh37: Chr11:76900388 GRCh38: Chr11:77189343	MYO7A		Usher syndrome	Likely pathogenic (Dec 31, 2022)	criteria provided, single submitter
Select item 250306345.	NM_206933.4(USH2A):c.4361_4371del (p.Thr1454fs) GRCh37: Chr1:216363590-216363600 GRCh38: Chr1:216190248-216190258	USH2A	T1454fs	Usher syndrome	Pathogenic (Dec 31, 2022)	criteria provided, single submitter
Select item 250306246.	NM_000260.4(MYO7A):c.3275del (p.Gly1092fs) GRCh37: Chr11:76893633 GRCh38: Chr11:77182588	MYO7A	G1081fs, G1092fs	Usher syndrome	Pathogenic (Dec 31, 2022)	criteria provided, single submitter
Select item 250306147.	NM_022124.6(CDH23):c.8_9del (p.Arg3fs) GRCh37: Chr10:73199594-73199595 GRCh38: Chr10:71439837-71439838	CDH23	R3fs	Usher syndrome	Pathogenic (Dec 31, 2022)	criteria provided, single submitter
Select item 250306048.	NM_000260.4(MYO7A):c.2093A>G (p.Gln698Arg) GRCh37: Chr11:76885959 GRCh38: Chr11:77174913	MYO7A	Q687R, Q698R	Usher syndrome	Likely pathogenic (Dec 31, 2022)	criteria provided, single submitter
Select item 250305949.	NM_022124.6(CDH23):c.1868_1891dup (p.Glu630_Gln631insLeuSerArgProLeuAspTyrGlu) GRCh37: Chr10:73442210-73442211 GRCh38: Chr10:71682453-71682454	CDH23		Usher syndrome	Likely pathogenic (Dec 31, 2022)	criteria provided, single submitter
Select item 250305850.	NM_153676.4(USH1C):c.104+2T>C GRCh37: Chr11:17554800 GRCh38: Chr11:17533253	USH1C		Usher syndrome	Likely pathogenic (Dec 31, 2022)	criteria provided, single submitter
Select item 250305751.	NM_206933.4(USH2A):c.263_340del (p.Cys88_Asn114delinsTyr) GRCh37: Chr1:216595339-216595416 GRCh38: Chr1:216421997-216422074	USH2A		Usher syndrome	Pathogenic (Dec 31, 2022)	criteria provided, single submitter
Select item 250305652.	NM_000260.4(MYO7A):c.4018G>C (p.Ala1340Pro) GRCh37: Chr11:76903189 GRCh38: Chr11:77192144	MYO7A	A1329P, A1340P	Usher syndrome	Likely pathogenic (Dec 31, 2022)	criteria provided, single submitter
Select item 250305553.	NM_000260.4(MYO7A):c.4017dup (p.Ala1340fs) GRCh37: Chr11:76903187-76903188 GRCh38: Chr11:77192142-77192143	MYO7A	A1329fs, A1340fs	Usher syndrome	Pathogenic (Dec 31, 2022)	criteria provided, single submitter
Select item 250305454.	NM_022124.6(CDH23):c.1570G>A (p.Glu524Lys) GRCh37: Chr10:73437268 GRCh38: Chr10:71677511	CDH23	E524K	Usher syndrome	Likely pathogenic (Dec 31, 2022)	criteria provided, single submitter
Select item 250126855.	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 250124556.	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 250102357.	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 250102258.	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 244596859.	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 244594760.	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 244594061.	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 244592562.	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 244590863.	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 244569264.	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 242932365.	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 242932266.	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 242931567.	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 215191468.	NM_206933.4(USH2A):c.10331G>A (p.Cys3444Tyr) GRCh37: Chr1:215960068 GRCh38: Chr1:215786726	USH2A	C3444Y	Usher syndrome, not provided	Pathogenic (Sep 13, 2023)	criteria provided, multiple submitters, no conflicts
Select item 212521569.	NM_032119.4(ADGRV1):c.3364dup (p.Ser1122fs) GRCh37: Chr5:89947489-89947490 GRCh38: Chr5:90651672-90651673	ADGRV1	S1122fs	not provided, Usher syndrome	Pathogenic (Dec 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 197074770.	NM_206933.4(USH2A):c.8576G>C (p.Arg2859Pro) GRCh37: Chr1:216051205 GRCh38: Chr1:215877863	USH2A	R2859P	not provided, Usher syndrome	Conflicting interpretations of pathogenicity (Dec 31, 2022)	criteria provided, conflicting interpretations
Select item 187839271.	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 187837272.	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 187834573.	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 180484274.	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 170519375.	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 170460376.	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 169857677.	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 169599578.	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 168341379.	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 167707180.	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 149212981.	NM_206933.4(USH2A):c.14134-3169A>G GRCh37: Chr1:215827312 GRCh38: Chr1:215653970	USH2A		not provided, Retinitis pigmentosa, Usher syndrome type 2A, Retinitis pigmentosa 39, Usher syndrome	Pathogenic/Likely pathogenic (Jul 24, 2023)	criteria provided, multiple submitters, no conflicts
Select item 145836582.	NM_022124.6(CDH23):c.3579+2T>C GRCh37: Chr10:73485279 GRCh38: Chr10:71725522	C10orf105, CDH23		Usher syndrome, not provided, Autosomal recessive nonsyndromic hearing loss 12	Pathogenic/Likely pathogenic (Apr 5, 2023)	criteria provided, multiple submitters, no conflicts
Select item 145798183.	NM_000260.4(MYO7A):c.5510T>A (p.Leu1837His) GRCh37: Chr11:76916536 GRCh38: Chr11:77205491	MYO7A	L1788H, L1837H, L1799H	Usher syndrome, not provided	Pathogenic (Jul 24, 2023)	criteria provided, multiple submitters, no conflicts
Select item 145600384.	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 144147985.	NM_206933.4(USH2A):c.907C>A (p.Arg303Ser) GRCh37: Chr1:216498883 GRCh38: Chr1:216325541	USH2A	R303S	Usher syndrome, not provided	Pathogenic/Likely pathogenic (Jul 24, 2023)	criteria provided, multiple submitters, no conflicts
Select item 144051186.	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 142386687.	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 139244988.	NM_206933.4(USH2A):c.9538del (p.Cys3180fs) GRCh37: Chr1:215990371 GRCh38: Chr1:215817029	USH2A	C3180fs	Usher syndrome, not provided	Pathogenic (Dec 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 138734789.	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 135678190.	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 135404291.	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 134376692.	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 134149793.	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 133993694.	GRCh37/hg19 10q22.1(chr10:73405588-73406374)x1 GRCh37: Chr10:73405588-73406374	CDH23		Usher syndrome	not provided	no assertion provided
Select item 133972595.	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 133144896.	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 132905097.	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 132904998.	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 132145199.	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 1301385100.	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

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