ClinVar for MedGen (Select 338513) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 26275671.	NM_206933.4(USH2A):c.4409del (p.Leu1470fs) GRCh37: Chr1:216348812 GRCh38: Chr1:216175470	USH2A	L1470fs	Usher syndrome type 2A	Likely pathogenic (Sep 12, 2023)	criteria provided, single submitter
Select item 25792302.	GRCh38/hg38 1q41(chr1:216190126-216251196)x1 GRCh38: Chr1:216190126-216251196	LOC122152296, LOC132088648, USH2A, USH2A-AS1		Usher syndrome type 2A	Likely pathogenic (Aug 24, 2023)	criteria provided, single submitter
Select item 25774213.	NM_206933.4(USH2A):c.13494_13516dup (p.Ser4506fs) GRCh37: Chr1:215847736-215847737 GRCh38: Chr1:215674394-215674395	USH2A	S4506fs	Usher syndrome type 2A	Pathogenic (Jun 26, 2023)	no assertion criteria provided
Select item 25065424.	GRCh37/hg19 1q41(chr1:216138660-216270555) GRCh37: Chr1:216138660-216270555	USH2A		Usher syndrome type 2A	Pathogenic (May 26, 2023)	criteria provided, single submitter
Select item 25007195.	NM_001317778.2(SFTPC):c.443C>T (p.Pro148Leu) GRCh37: Chr8:22021421 GRCh38: Chr8:22163908	SFTPC	P101L, P148L, P154L	Usher syndrome type 2A	Uncertain significance (Jul 22, 2020)	criteria provided, single submitter
Select item 24456346.	NM_206933.4(USH2A):c.9699del (p.His3234fs) GRCh37: Chr1:215987118 GRCh38: Chr1:215813776	USH2A	H3234fs	Usher syndrome type 2A	Pathogenic (Feb 28, 2023)	criteria provided, single submitter
Select item 24442327.	NM_206933.4(USH2A):c.5191_5192del (p.Met1731fs) GRCh37: Chr1:216256904-216256905 GRCh38: Chr1:216083562-216083563	USH2A-AS2, USH2A	M1731fs	Usher syndrome type 2A	Pathogenic (Feb 23, 2023)	criteria provided, single submitter
Select item 24317988.	NM_206933.4(USH2A):c.11450C>T (p.Thr3817Ile) GRCh37: Chr1:215916617 GRCh38: Chr1:215743275	USH2A	T3817I	Usher syndrome type 2A	Uncertain significance (Dec 15, 2022)	criteria provided, single submitter
Select item 24126959.	NM_206933.4(USH2A):c.7047G>A (p.Trp2349Ter) GRCh37: Chr1:216138732 GRCh38: Chr1:215965390	USH2A	W2349*	Usher syndrome type 2A	Pathogenic (Jan 25, 2023)	criteria provided, single submitter
Select item 189544810.	NM_206933.4(USH2A):c.2168-1G>T GRCh37: Chr1:216420569 GRCh38: Chr1:216247227	USH2A		Usher syndrome type 2A	Likely pathogenic (Oct 28, 2021)	criteria provided, single submitter
Select item 180637411.	NM_206933.4(USH2A):c.1469A>C (p.His490Pro) GRCh37: Chr1:216496897 GRCh38: Chr1:216323555	USH2A	H490P	Usher syndrome type 2A	Uncertain significance (May 6, 2021)	criteria provided, single submitter
Select item 180489112.	NM_206933.2(USH2A):c.850_853delGAGA GRCh37: Chr1:216498937-216498940 GRCh38: Chr1:216325595-216325598	USH2A		Usher syndrome type 2A	Pathogenic (May 6, 2021)	criteria provided, single submitter
Select item 179954313.	NC_000001.11:g.(?_216270461)_(216260162_?)del	USH2A		Usher syndrome type 2A	Pathogenic (Nov 10, 2022)	criteria provided, single submitter
Select item 179954214.	NC_000001.11:g.(?_216462679)_(216462739_?)del GRCh38: Chr1:216462679-216462739	USH2A		Usher syndrome type 2A	Likely pathogenic (Nov 10, 2022)	criteria provided, single submitter
Select item 179954115.	NC_000001.11:g.(?_216108034)_(216108100_?)del GRCh38: Chr1:216108034-216108100	USH2A		Usher syndrome type 2A	Likely pathogenic (Nov 10, 2022)	criteria provided, single submitter
Select item 172700616.	NM_206933.4(USH2A):c.1645-2A>G GRCh37: Chr1:216465714 GRCh38: Chr1:216292372	USH2A		Usher syndrome type 2A, not provided	Pathogenic (Feb 23, 2023)	criteria provided, multiple submitters, no conflicts
Select item 172693817.	NM_206933.4(USH2A):c.6831T>A (p.Tyr2277Ter) GRCh37: Chr1:216144093 GRCh38: Chr1:215970751	USH2A	Y2277*	Usher syndrome type 2A	Likely pathogenic (Jan 2, 2022)	criteria provided, single submitter
Select item 172690018.	NM_206933.4(USH2A):c.2729_2730del (p.Gly910fs) GRCh37: Chr1:216420006-216420007 GRCh38: Chr1:216246664-216246665	LOC122152296, USH2A	G910fs	Usher syndrome type 2A	Likely pathogenic (Jan 2, 2022)	criteria provided, single submitter
Select item 172685919.	NM_206933.4(USH2A):c.13482T>A (p.Tyr4494Ter) GRCh37: Chr1:215847771 GRCh38: Chr1:215674429	USH2A	Y4494*	Usher syndrome type 2A	Likely pathogenic (Jan 2, 2022)	criteria provided, single submitter
Select item 172675620.	NM_206933.4(USH2A):c.1394_1395delinsA (p.Pro465fs) GRCh37: Chr1:216496971-216496972 GRCh38: Chr1:216323629-216323630	USH2A	P465fs	Usher syndrome type 2A	Likely pathogenic (Jan 2, 2022)	criteria provided, single submitter
Select item 172672221.	NM_206933.4(USH2A):c.1499_1500delinsA (p.Val500fs) GRCh37: Chr1:216496866-216496867 GRCh38: Chr1:216323524-216323525	USH2A	V500fs	Usher syndrome type 2A	Likely pathogenic (Dec 31, 2021)	criteria provided, single submitter
Select item 172667222.	NM_206933.4(USH2A):c.3484_3485del (p.Ser1162fs) GRCh37: Chr1:216373295-216373296 GRCh38: Chr1:216199953-216199954	USH2A, USH2A-AS1	S1162fs	Usher syndrome type 2A	Likely pathogenic (Dec 30, 2021)	criteria provided, single submitter
Select item 172663223.	NM_206933.4(USH2A):c.2269A>T (p.Lys757Ter) GRCh37: Chr1:216420467 GRCh38: Chr1:216247125	USH2A	K757*	Usher syndrome type 2A	Likely pathogenic (Dec 29, 2021)	criteria provided, single submitter
Select item 172646324.	NM_206933.4(USH2A):c.2525del (p.Phe842fs) GRCh37: Chr1:216420211 GRCh38: Chr1:216246869	LOC122152296, USH2A	F842fs	Usher syndrome type 2A	Likely pathogenic (Dec 17, 2021)	criteria provided, single submitter
Select item 172636525.	NM_206933.4(USH2A):c.5831G>A (p.Trp1944Ter) GRCh37: Chr1:216246257 GRCh38: Chr1:216072915	USH2A, USH2A-AS2	W1944*	Usher syndrome type 2A	Likely pathogenic (Dec 16, 2021)	criteria provided, single submitter
Select item 172624926.	NM_206933.4(USH2A):c.1170_1176del (p.Ser391fs) GRCh37: Chr1:216497662-216497668 GRCh38: Chr1:216324320-216324326	USH2A	S391fs	Usher syndrome type 2A	Likely pathogenic (May 30, 2022)	criteria provided, single submitter
Select item 172620927.	NM_206933.4(USH2A):c.6056T>A (p.Leu2019Ter) GRCh37: Chr1:216221983 GRCh38: Chr1:216048641	USH2A	L2019*	Usher syndrome type 2A	Likely pathogenic (May 24, 2022)	criteria provided, single submitter
Select item 172604128.	NM_206933.4(USH2A):c.14661C>A (p.Tyr4887Ter) GRCh37: Chr1:215820994 GRCh38: Chr1:215647652	USH2A	Y4887*	Usher syndrome type 2A	Likely pathogenic (May 11, 2022)	criteria provided, single submitter
Select item 172603529.	NM_206933.4(USH2A):c.1235G>A (p.Trp412Ter) GRCh37: Chr1:216497603 GRCh38: Chr1:216324261	USH2A	W412*	Usher syndrome type 2A	Likely pathogenic (May 8, 2022)	criteria provided, single submitter
Select item 172590730.	NM_206933.4(USH2A):c.793C>T (p.Gln265Ter) GRCh37: Chr1:216500988 GRCh38: Chr1:216327646	USH2A	Q265*	Usher syndrome type 2A	Likely pathogenic (Apr 12, 2022)	criteria provided, single submitter
Select item 172590131.	NM_206933.4(USH2A):c.1014_1015insTATT (p.Ala339fs) GRCh37: Chr1:216498775-216498776 GRCh38: Chr1:216325433-216325434	USH2A	A339fs	Usher syndrome type 2A	Likely pathogenic (Apr 10, 2022)	criteria provided, single submitter
Select item 172589132.	NM_206933.4(USH2A):c.3811G>T (p.Gly1271Ter) GRCh37: Chr1:216372969 GRCh38: Chr1:216199627	USH2A, USH2A-AS1	G1271*	Usher syndrome type 2A	Likely pathogenic (Apr 6, 2022)	criteria provided, single submitter
Select item 172586633.	NM_206933.4(USH2A):c.8668A>T (p.Lys2890Ter) GRCh37: Chr1:216051113 GRCh38: Chr1:215877771	USH2A	K2890*	Usher syndrome type 2A	Likely pathogenic (Apr 4, 2022)	criteria provided, single submitter
Select item 172573034.	NM_206933.4(USH2A):c.3081delinsGTATAAGAGACAGT (p.Thr1028fs) GRCh37: Chr1:216390805 GRCh38: Chr1:216217463	USH2A, USH2A-AS1	T1028fs	Usher syndrome type 2A	Likely pathogenic (Mar 31, 2022)	criteria provided, single submitter
Select item 172568535.	NM_206933.4(USH2A):c.3332T>A (p.Leu1111Ter) GRCh37: Chr1:216373448 GRCh38: Chr1:216200106	USH2A, USH2A-AS1	L1111*	Usher syndrome type 2A	Likely pathogenic (Mar 31, 2022)	criteria provided, single submitter
Select item 172567336.	NM_206933.4(USH2A):c.2423_2425delinsCTTAT (p.Cys808fs) GRCh37: Chr1:216420311-216420313 GRCh38: Chr1:216246969-216246971	LOC122152296, USH2A	C808fs	Usher syndrome type 2A	Likely pathogenic (Mar 30, 2022)	criteria provided, single submitter
Select item 172560637.	NM_206933.4(USH2A):c.1428_1429del (p.Gln477fs) GRCh37: Chr1:216496937-216496938 GRCh38: Chr1:216323595-216323596	USH2A	Q477fs	Usher syndrome type 2A	Likely pathogenic (Mar 30, 2022)	criteria provided, single submitter
Select item 172560338.	NM_206933.4(USH2A):c.2377A>T (p.Lys793Ter) GRCh37: Chr1:216420359 GRCh38: Chr1:216247017	LOC122152296, USH2A	K793*	Usher syndrome type 2A	Likely pathogenic (Mar 30, 2022)	criteria provided, single submitter
Select item 172559439.	NM_206933.4(USH2A):c.3623G>A (p.Trp1208Ter) GRCh37: Chr1:216373157 GRCh38: Chr1:216199815	USH2A, USH2A-AS1	W1208*	Usher syndrome type 2A	Likely pathogenic (Mar 30, 2022)	criteria provided, single submitter
Select item 172557640.	NM_206933.4(USH2A):c.8182C>T (p.Gln2728Ter) GRCh37: Chr1:216061809 GRCh38: Chr1:215888467	USH2A	Q2728*	Usher syndrome type 2A	Likely pathogenic (Mar 30, 2022)	criteria provided, single submitter
Select item 172556041.	NM_206933.4(USH2A):c.2317A>T (p.Lys773Ter) GRCh37: Chr1:216420419 GRCh38: Chr1:216247077	LOC122152296, USH2A	K773*	Usher syndrome type 2A	Likely pathogenic (Mar 30, 2022)	criteria provided, single submitter
Select item 172555542.	NM_206933.4(USH2A):c.11626A>T (p.Lys3876Ter) GRCh37: Chr1:215914802 GRCh38: Chr1:215741460	USH2A	K3876*	Usher syndrome type 2A	Likely pathogenic (Mar 30, 2022)	criteria provided, single submitter
Select item 172550543.	NM_206933.4(USH2A):c.12961G>T (p.Glu4321Ter) GRCh37: Chr1:215848292 GRCh38: Chr1:215674950	USH2A	E4321*	Usher syndrome type 2A	Likely pathogenic (Mar 29, 2022)	criteria provided, single submitter
Select item 172548144.	NM_206933.4(USH2A):c.1994del (p.Lys665fs) GRCh37: Chr1:216424418 GRCh38: Chr1:216251076	USH2A	K665fs	Usher syndrome type 2A	Likely pathogenic (Mar 27, 2022)	criteria provided, single submitter
Select item 172538145.	NM_206933.4(USH2A):c.3892_3899del (p.Gln1298fs) GRCh37: Chr1:216371839-216371846 GRCh38: Chr1:216198497-216198504	USH2A, USH2A-AS1	Q1298fs	Usher syndrome type 2A	Likely pathogenic (Mar 17, 2022)	criteria provided, single submitter
Select item 172529346.	NM_206933.4(USH2A):c.13646T>A (p.Leu4549Ter) GRCh37: Chr1:215847607 GRCh38: Chr1:215674265	USH2A	L4549*	Usher syndrome type 2A	Likely pathogenic (Mar 15, 2022)	criteria provided, single submitter
Select item 172528347.	NM_206933.4(USH2A):c.1659del (p.Leu553fs) GRCh37: Chr1:216465698 GRCh38: Chr1:216292356	USH2A	L553fs	Usher syndrome type 2A	Likely pathogenic (Mar 15, 2022)	criteria provided, single submitter
Select item 172517548.	NM_206933.4(USH2A):c.997_998delinsA (p.Ser333fs) GRCh37: Chr1:216498792-216498793 GRCh38: Chr1:216325450-216325451	USH2A	S333fs	Usher syndrome type 2A	Likely pathogenic (Mar 14, 2022)	criteria provided, single submitter
Select item 172516949.	NM_206933.4(USH2A):c.10580C>G (p.Ser3527Ter) GRCh37: Chr1:215956085 GRCh38: Chr1:215782743	USH2A	S3527*	Usher syndrome type 2A	Likely pathogenic (Mar 11, 2022)	criteria provided, single submitter
Select item 172516350.	NM_206933.4(USH2A):c.2451C>A (p.Cys817Ter) GRCh37: Chr1:216420285 GRCh38: Chr1:216246943	LOC122152296, USH2A	C817*	Usher syndrome type 2A	Likely pathogenic (Mar 11, 2022)	criteria provided, single submitter
Select item 172514551.	NM_206933.4(USH2A):c.3685_3686del (p.Leu1229fs) GRCh37: Chr1:216373094-216373095 GRCh38: Chr1:216199752-216199753	USH2A, USH2A-AS1	L1229fs	Usher syndrome type 2A	Likely pathogenic (Mar 9, 2022)	criteria provided, single submitter
Select item 172511252.	NM_206933.4(USH2A):c.734_735del (p.Ser245fs) GRCh37: Chr1:216538344-216538345 GRCh38: Chr1:216365002-216365003	USH2A	S245fs	Usher syndrome type 2A	Likely pathogenic (Mar 8, 2022)	criteria provided, single submitter
Select item 172504253.	NM_206933.4(USH2A):c.9607G>T (p.Gly3203Ter) GRCh37: Chr1:215987210 GRCh38: Chr1:215813868	USH2A	G3203*	Usher syndrome type 2A	Likely pathogenic (Mar 5, 2022)	criteria provided, single submitter
Select item 172500054.	NM_206933.4(USH2A):c.13447G>T (p.Gly4483Ter) GRCh37: Chr1:215847806 GRCh38: Chr1:215674464	USH2A	G4483*	Usher syndrome type 2A	Likely pathogenic (Mar 4, 2022)	criteria provided, single submitter
Select item 172491255.	NM_206933.4(USH2A):c.9055G>T (p.Glu3019Ter) GRCh37: Chr1:216019166 GRCh38: Chr1:215845824	USH2A	E3019*	Usher syndrome type 2A	Likely pathogenic (Mar 2, 2022)	criteria provided, single submitter
Select item 172486056.	NM_206933.4(USH2A):c.8303T>A (p.Leu2768Ter) GRCh37: Chr1:216052361 GRCh38: Chr1:215879019	USH2A	L2768*	Usher syndrome type 2A	Likely pathogenic (Mar 2, 2022)	criteria provided, single submitter
Select item 172478757.	NM_206933.4(USH2A):c.10486G>T (p.Glu3496Ter) GRCh37: Chr1:215956179 GRCh38: Chr1:215782837	USH2A	E3496*	Usher syndrome type 2A	Likely pathogenic (Feb 27, 2022)	criteria provided, single submitter
Select item 172474058.	NM_206933.4(USH2A):c.3517_3518del (p.Ser1173fs) GRCh37: Chr1:216373262-216373263 GRCh38: Chr1:216199920-216199921	USH2A, USH2A-AS1	S1173fs	Usher syndrome type 2A	Likely pathogenic (Feb 25, 2022)	criteria provided, single submitter
Select item 172468659.	NM_206933.4(USH2A):c.956del (p.Cys319fs) GRCh37: Chr1:216498834 GRCh38: Chr1:216325492	USH2A	C319fs	Usher syndrome type 2A	Likely pathogenic (Feb 25, 2022)	criteria provided, single submitter
Select item 172462060.	NM_206933.4(USH2A):c.4206_4207insC (p.Ser1403fs) GRCh37: Chr1:216369939-216369940 GRCh38: Chr1:216196597-216196598	USH2A, USH2A-AS1	S1403fs	Usher syndrome type 2A	Likely pathogenic (Feb 22, 2022)	criteria provided, single submitter
Select item 172461961.	NM_206933.4(USH2A):c.2416_2417insT (p.Thr806fs) GRCh37: Chr1:216420319-216420320 GRCh38: Chr1:216246977-216246978	LOC122152296, USH2A	T806fs	Usher syndrome type 2A	Likely pathogenic (Feb 22, 2022)	criteria provided, single submitter
Select item 172455962.	NM_206933.4(USH2A):c.10843A>T (p.Lys3615Ter) GRCh37: Chr1:215953281 GRCh38: Chr1:215779939	USH2A	K3615*	Usher syndrome type 2A	Likely pathogenic (Feb 19, 2022)	criteria provided, single submitter
Select item 172447963.	NM_206933.4(USH2A):c.9379C>T (p.Gln3127Ter) GRCh37: Chr1:215990530 GRCh38: Chr1:215817188	USH2A	Q3127*	Usher syndrome type 2A	Likely pathogenic (Feb 17, 2022)	criteria provided, single submitter
Select item 172425064.	NM_206933.4(USH2A):c.2846_2849del (p.Leu949fs) GRCh37: Chr1:216405439-216405442 GRCh38: Chr1:216232097-216232100	USH2A, USH2A-AS1	L949fs	Usher syndrome type 2A	Likely pathogenic (Feb 2, 2022)	criteria provided, single submitter
Select item 172423365.	NM_206933.4(USH2A):c.658C>T (p.Gln220Ter) GRCh37: Chr1:216538421 GRCh38: Chr1:216365079	USH2A	Q220*	Usher syndrome type 2A	Likely pathogenic (Feb 2, 2022)	criteria provided, single submitter
Select item 172422266.	NM_206933.4(USH2A):c.4651A>T (p.Lys1551Ter) GRCh37: Chr1:216270532 GRCh38: Chr1:216097190	USH2A	K1551*	Usher syndrome type 2A	Likely pathogenic (Feb 2, 2022)	criteria provided, single submitter
Select item 172417267.	NM_206933.4(USH2A):c.2962_2964delinsAA (p.His988fs) GRCh37: Chr1:216405324-216405326 GRCh38: Chr1:216231982-216231984	USH2A, USH2A-AS1	H988fs	Usher syndrome type 2A	Likely pathogenic (Jan 28, 2022)	criteria provided, single submitter
Select item 172416768.	NM_206933.4(USH2A):c.8233A>T (p.Lys2745Ter) GRCh37: Chr1:216052431 GRCh38: Chr1:215879089	USH2A	K2745*	Usher syndrome type 2A	Likely pathogenic (Jan 28, 2022)	criteria provided, single submitter
Select item 172415569.	NM_206933.4(USH2A):c.2876_2877del (p.Val959fs) GRCh37: Chr1:216405411-216405412 GRCh38: Chr1:216232069-216232070	USH2A, USH2A-AS1	V959fs	Usher syndrome type 2A	Likely pathogenic (Jan 27, 2022)	criteria provided, single submitter
Select item 172413770.	NM_206933.4(USH2A):c.3072_3075del (p.Lys1024fs) GRCh37: Chr1:216390811-216390814 GRCh38: Chr1:216217469-216217472	USH2A, USH2A-AS1	K1024fs	Usher syndrome type 2A	Likely pathogenic (Jan 27, 2022)	criteria provided, single submitter
Select item 172410571.	NM_206933.4(USH2A):c.12993T>A (p.Tyr4331Ter) GRCh37: Chr1:215848260 GRCh38: Chr1:215674918	USH2A	Y4331*	Usher syndrome type 2A	Likely pathogenic (Jan 25, 2022)	criteria provided, single submitter
Select item 172410072.	NM_206933.4(USH2A):c.2468_2469insTATAA (p.Arg824fs) GRCh37: Chr1:216420267-216420268 GRCh38: Chr1:216246925-216246926	LOC122152296, USH2A	R824fs	Usher syndrome type 2A	Likely pathogenic (Jan 25, 2022)	criteria provided, single submitter
Select item 172405273.	NM_206933.4(USH2A):c.2683C>T (p.Gln895Ter) GRCh37: Chr1:216420053 GRCh38: Chr1:216246711	LOC122152296, USH2A	Q895*	Usher syndrome type 2A	Likely pathogenic (Jan 24, 2022)	criteria provided, single submitter
Select item 172404974.	NM_206933.4(USH2A):c.4000A>T (p.Lys1334Ter) GRCh37: Chr1:216371738 GRCh38: Chr1:216198396	USH2A, USH2A-AS1	K1334*	Usher syndrome type 2A	Likely pathogenic (Jan 24, 2022)	criteria provided, single submitter
Select item 172403275.	NM_206933.4(USH2A):c.5902G>T (p.Gly1968Ter) GRCh37: Chr1:216243590 GRCh38: Chr1:216070248	USH2A	G1968*	Usher syndrome type 2A	Likely pathogenic (Nov 3, 2021)	criteria provided, single submitter
Select item 172400576.	NM_206933.4(USH2A):c.11099T>A (p.Leu3700Ter) GRCh37: Chr1:215933134 GRCh38: Chr1:215759792	USH2A	L3700*	Usher syndrome type 2A	Likely pathogenic (Jan 23, 2022)	criteria provided, single submitter
Select item 172396677.	NM_206933.4(USH2A):c.1435_1439del (p.Phe479fs) GRCh37: Chr1:216496927-216496931 GRCh38: Chr1:216323585-216323589	USH2A	F479fs	Usher syndrome type 2A	Likely pathogenic (Jan 17, 2022)	criteria provided, single submitter
Select item 172393478.	NM_206933.4(USH2A):c.13301C>A (p.Ser4434Ter) GRCh37: Chr1:215847952 GRCh38: Chr1:215674610	USH2A	S4434*	Usher syndrome type 2A	Likely pathogenic (Dec 21, 2021)	criteria provided, single submitter
Select item 172392879.	NM_206933.4(USH2A):c.3082_3083del (p.Thr1028fs) GRCh37: Chr1:216390803-216390804 GRCh38: Chr1:216217461-216217462	USH2A, USH2A-AS1	T1028fs	Usher syndrome type 2A	Likely pathogenic (Jan 11, 2022)	criteria provided, single submitter
Select item 172392180.	NM_206933.4(USH2A):c.8860C>T (p.Gln2954Ter) GRCh37: Chr1:216019361 GRCh38: Chr1:215846019	USH2A	Q2954*	Usher syndrome type 2A	Likely pathogenic (Jan 9, 2022)	criteria provided, single submitter
Select item 172323381.	NM_206933.4(USH2A):c.3837del (p.Leu1278_Tyr1279insTer) GRCh37: Chr1:216371901 GRCh38: Chr1:216198559	USH2A, USH2A-AS1		Usher syndrome type 2A	Pathogenic (Oct 19, 2022)	criteria provided, single submitter
Select item 170944682.	NM_206933.4(USH2A):c.3158-1G>T GRCh37: Chr1:216380774 GRCh38: Chr1:216207432	USH2A, USH2A-AS1		Usher syndrome type 2A	Likely pathogenic (May 9, 2022)	criteria provided, single submitter
Select item 170570683.	NM_206933.4(USH2A):c.8141G>A (p.Trp2714Ter) GRCh37: Chr1:216061850 GRCh38: Chr1:215888508	USH2A	W2714*	Usher syndrome type 2A	Pathogenic (Sep 1, 2022)	criteria provided, single submitter
Select item 170550184.	NM_206933.4(USH2A):c.486-2A>C GRCh37: Chr1:216592023 GRCh38: Chr1:216418681	USH2A		Usher syndrome type 2A	Likely pathogenic (Sep 1, 2022)	criteria provided, single submitter
Select item 170547385.	NM_206933.4(USH2A):c.12708T>A (p.Cys4236Ter) GRCh37: Chr1:215848545 GRCh38: Chr1:215675203	USH2A	C4236*	Usher syndrome type 2A	Pathogenic (Sep 1, 2022)	criteria provided, single submitter
Select item 170465086.	NM_206933.4(USH2A):c.401_402delinsA (p.Ser134fs) GRCh37: Chr1:216595277-216595278 GRCh38: Chr1:216421935-216421936	USH2A	S134fs	Usher syndrome type 2A	Pathogenic (Sep 2, 2022)	criteria provided, single submitter
Select item 170435187.	NM_206933.4(USH2A):c.14683A>G (p.Ser4895Gly) GRCh37: Chr1:215820972 GRCh38: Chr1:215647630	USH2A	S4895G	Usher syndrome type 2A	Uncertain significance (May 2, 2022)	criteria provided, single submitter
Select item 169873888.	NM_206933.4(USH2A):c.8480T>A (p.Leu2827Ter) GRCh37: Chr1:216052184 GRCh38: Chr1:215878842	USH2A	L2827*	Usher syndrome type 2A	Likely pathogenic (Mar 11, 2022)	criteria provided, single submitter
Select item 168735989.	NM_206933.4(USH2A):c.4858C>T (p.Gln1620Ter) GRCh37: Chr1:216262382 GRCh38: Chr1:216089040	USH2A	Q1620*	Usher syndrome type 2A	Likely pathogenic (May 22, 2022)	criteria provided, single submitter
Select item 168724790.	NM_206933.4(USH2A):c.14835del (p.Val4946fs) GRCh37: Chr1:215814033 GRCh38: Chr1:215640691	USH2A	V4946fs	Usher syndrome type 2A	Pathogenic (May 22, 2022)	criteria provided, single submitter
Select item 167715291.	NM_206933.4(USH2A):c.13312T>C (p.Trp4438Arg) GRCh37: Chr1:215847941 GRCh38: Chr1:215674599	USH2A	W4438R	not specified, Retinitis pigmentosa 39, Usher syndrome type 2A	Uncertain significance (Mar 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 167518592.	NM_206933.4(USH2A):c.3934del (p.Ala1312fs) GRCh37: Chr1:216371804 GRCh38: Chr1:216198462	USH2A, USH2A-AS1	A1312fs	Usher syndrome type 2A	Pathogenic (Oct 5, 2020)	criteria provided, single submitter
Select item 167514893.	NM_206933.4(USH2A):c.4733G>A (p.Arg1578His) GRCh37: Chr1:216270450 GRCh38: Chr1:216097108	USH2A	R1578H	Retinitis pigmentosa 39, Usher syndrome type 2A, not provided	Uncertain significance (Jul 2, 2023)	criteria provided, multiple submitters, no conflicts
Select item 152080194.	NM_206933.4(USH2A):c.12316G>A (p.Gly4106Arg) GRCh37: Chr1:215848937 GRCh38: Chr1:215675595	USH2A	G4106R	Usher syndrome type 2A, Retinitis pigmentosa 39, not provided	Uncertain significance (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 150264695.	NM_206933.4(USH2A):c.4304A>C (p.Lys1435Thr) GRCh37: Chr1:216363657 GRCh38: Chr1:216190315	USH2A	K1435T	Usher syndrome type 2A, Retinitis pigmentosa 39, not provided	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 150124796.	NM_206933.4(USH2A):c.10265G>A (p.Ser3422Asn) GRCh37: Chr1:215960134 GRCh38: Chr1:215786792	USH2A	S3422N	Usher syndrome type 2A, not provided	Uncertain significance (Dec 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 149228997.	NM_206933.4(USH2A):c.11206G>A (p.Asp3736Asn) GRCh37: Chr1:215933027 GRCh38: Chr1:215759685	USH2A	D3736N	not provided, Retinitis pigmentosa 39, Usher syndrome type 2A	Uncertain significance (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 148163598.	NM_001195263.2(PDZD7):c.257C>T (p.Ser86Leu) GRCh37: Chr10:102783795 GRCh38: Chr10:101024038	PDZD7	S86L	Usher syndrome type 2C, Usher syndrome type 2A, Hearing loss, autosomal recessive 57, not provided	Uncertain significance (Sep 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 147437999.	NM_206933.4(USH2A):c.6957+1G>C GRCh37: Chr1:216143966 GRCh38: Chr1:215970624	USH2A		Retinitis pigmentosa 39, Usher syndrome type 2A, not provided	Likely pathogenic (Jul 28, 2021)	criteria provided, multiple submitters, no conflicts
Select item 1470450100.	NM_206933.4(USH2A):c.9813G>T (p.Met3271Ile) GRCh37: Chr1:215972394 GRCh38: Chr1:215799052	USH2A	M3271I	Usher syndrome type 2A, Retinitis pigmentosa 39, not provided	Uncertain significance (Aug 11, 2022)	criteria provided, multiple submitters, no conflicts

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