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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Usher Syndromes (D052245)
..Starting node ..Usher syndrome, type 2A (C536490)
Child Nodes:
Sister Nodes:
..Usher syndrome, type 1B (C536485)
..Usher syndrome, type 1C (C536486)
..Usher syndrome, type 1D (C536487)
..Usher syndrome, type 1E (C536488)
..Usher syndrome, type 1F (C536489)
..Usher syndrome, type 2A (C536490)
..Usher syndrome, type 2B (C536491)
..Usher syndrome, type 2C (C536492)
..Usher Syndrome, Type Ib (C564755)
..Usher Syndrome, Type IC (C564753)
..Usher Syndrome, Type ID (C563400)
..Usher Syndrome, Type ID/F (C567409)
..Usher Syndrome, Type IE (C566577)
..Usher Syndrome, Type IF (C566586)
..Usher Syndrome, Type IG (C564643)
..Usher Syndrome, Type IH (C567227)
..USHER SYNDROME, TYPE IID (OMIM:611383)
..USHER SYNDROME, TYPE IIIA (OMIM:276902)
..USHER SYNDROME, TYPE IJ (OMIM:614869)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

11449

Name:

Usher syndrome, type 2A

Definition:

Alternative IDs:

OMIM:276901

ParentIDs:

MESH:D052245

TreeNumbers:

C09.218.458.341.186.500.500/C536490 |C09.218.458.341.887.886/C536490 |C10.597.751.418.341.186.500.500/C536490 |C10.597.751.418.341.887.886/C536490 |C10.597.751.941.162.625.500/C536490 |C11.768.585.658.500.813/C536490 |C11.966.075.375.500/C536490 |C16.131.077.29

Synonyms:

USH2A |Usher Syndrome, Type IIA

Slim Mappings:

Reference:

MedGen: C536490
MeSH: C536490
OMIM: 276901;

Genes: PDZD7; USH2A;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0008527	Congenital sensorineural hearing impairment
3	HP:0000510	Rod-cone dystrophy

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_206933.2(USH2A):c.5857+2T>C	-1	-	Pathogenic	397518022	RCV000041870;	N	MedGen:C1848634,OMIM:276901	1	216246229	216246229	NM_206933.2:c.5857+2T>C		NC_000001.10:g.216246229A>G	-	C1848634 276901 Usher syndrome, type 2A
NM_206933.2(USH2A):c.5788C>T (p.Arg1930Ter)	-1	-	Pathogenic	397518021	RCV000041869;	N	MedGen:C1848634,OMIM:276901	1	216246300	216246300	NM_206933.2:c.5788C>T	NP_996816.2:p.Arg1930Ter	NC_000001.10:g.216246300G>A	-	C1848634 276901 Usher syndrome, type 2A
NG_009497.1:g.355301G>A	-1	-	Pathogenic	-1	RCV000213465;	N	MedGen:C1848634,OMIM:276901	1	216246438	216246438	NM_206933.2:c.5776+1G>A			-	C1848634 276901 Usher syndrome, type 2A
NM_206933.2(USH2A):c.5614delGinsTTAACTTGGCAT (p.Ala1872Leufs)	-1	-	Likely pathogenic	869312180	RCV000210302;	N	MedGen:C1848634,OMIM:276901	1	216246601	216246601	NM_206933.2:c.5614delGinsTTAACTTGGCAT	NP_996816.2:p.Ala1872Leufs		-	C1848634 276901 Usher syndrome, type 2A
NM_206933.2(USH2A):c.5581G>A (p.Gly1861Ser)	-1	-	Likely pathogenic	375668376	RCV000041861;	N	MedGen:C1848634,OMIM:276901	1	216246634	216246634	NM_206933.2:c.5581G>A	NP_996816.2:p.Gly1861Ser	NC_000001.10:g.216246634C>T	-	C1848634 276901 Usher syndrome, type 2A
NM_206933.2(USH2A):c.(?_5299)_(5572_?)del (p.(?))	-1	-	Pathogenic	-1	RCV000156000;	N	MedGen:C1848634,OMIM:276901	1	216251431	216251704	NM_206933.2:c.(?_5299)_(5572_?)del	NP_996816.2:p.(?)		-	C1848634 276901 Usher syndrome, type 2A
NM_206933.2(USH2A):c.5167+1G>T	-1	-	Pathogenic	794727408	RCV000176600;	N	MedGen:C1848634,OMIM:276901	1	216258039	216258039	NM_206933.2:c.5167+1G>T		NC_000001.10:g.216258039C>A	-	C1848634 276901 Usher syndrome, type 2A
NM_206933.2(USH2A):c.5001dupA (p.Gly1668Argfs)	-1	-	Pathogenic	397518018	RCV000041852;	N	MedGen:C1848634,OMIM:276901	1	216258206	216258206	NM_206933.2:c.5001dupA	NP_996816.2:p.Gly1668Argfs	NC_000001.10:g.216258206dupT	-	C1848634 276901 Usher syndrome, type 2A
NC_000001.11:g.(?_216086719)_(216097213_?)del	-1	-	Pathogenic	-1	RCV000156001;	N	MedGen:C1848634,OMIM:276901	1	216260061	216270555	-	-		-	C1848634 276901 Usher syndrome, type 2A
NM_001195263.1(PDZD7):c.166dupC (p.Arg56Profs)	79955	PDZD7	risk factor	587776894	RCV000023974;	N	MedGen:C1848634,OMIM:276901	10	102789811	102789811	NM_001195263.1:c.166dupC	NP_001182192.1:p.Arg56Profs		OMIM Allelic Variant:612971.0001	C1848634 276901 Usher syndrome, type 2A
NM_206933.2(USH2A):c.14911C>T (p.Arg4971Ter)	7399	USH2A	Pathogenic	397517994	RCV000041772;	N	MedGen:C1848634,OMIM:276901	1	215813957	215813957	NM_206933.2:c.14911C>T	NP_996816.2:p.Arg4971Ter	NC_000001.10:g.215813957G>A	-	C1848634 276901 Usher syndrome, type 2A
NM_206933.2(USH2A):c.14803C>T (p.Arg4935Ter)	7399	USH2A	Pathogenic	146733615	RCV000154377;	N	MedGen:C1848634,OMIM:276901; MedGen:C3151138,OMIM:613809	1	215814065	215814065	NM_206933.2:c.14803C>T	NP_996816.2:p.Arg4935Ter	NC_000001.10:g.215814065G>A	-	C3151138 613809 Retinitis pigmentosa 39; C1848634 276901 Usher syndrome, type 2A
NM_206933.2(USH2A):c.14502_14503delTC (p.Pro4835Thrfs)	7399	USH2A	Pathogenic	794727830	RCV000179668;	N	MedGen:C1848634,OMIM:276901	1	215821949	215821950	NM_206933.2:c.14502_14503delTC	NP_996816.2:p.Pro4835Thrfs	NC_000001.10:g.215821949_215821950delGA	-	C1848634 276901 Usher syndrome, type 2A
NM_206933.2(USH2A):c.14287G>A (p.Gly4763Arg)	7399	USH2A	Likely pathogenic	397517990	RCV000041756;	N	MedGen:C1848634,OMIM:276901; MedGen:C3151138,OMIM:613809	1	215823990	215823990	NM_206933.2:c.14287G>A	NP_996816.2:p.Gly4763Arg	NC_000001.10:g.215823990C>T	-	C3151138 613809 Retinitis pigmentosa 39; C1848634 276901 Usher syndrome, type 2A
NM_206933.2(USH2A):c.14248C>T (p.Gln4750Ter)	7399	USH2A	Pathogenic	727504867	RCV000156228;	N	MedGen:C1848634,OMIM:276901	1	215824029	215824029	NM_206933.2:c.14248C>T	NP_996816.2:p.Gln4750Ter	NC_000001.10:g.215824029G>A	-	C1848634 276901 Usher syndrome, type 2A
NM_206933.2(USH2A):c.14180G>A (p.Trp4727Ter)	7399	USH2A	Pathogenic	397517989	RCV000041752;	N	MedGen:C1848634,OMIM:276901	1	215824097	215824097	NM_206933.2:c.14180G>A	NP_996816.2:p.Trp4727Ter	NC_000001.10:g.215824097C>T	-	C1848634 276901 Usher syndrome, type 2A
NM_206933.2(USH2A):c.12295-?_14133+?del	7399	USH2A	Likely pathogenic	-1	RCV000154497;	N	MedGen:C1848634,OMIM:276901	1	215844314	215848958	NM_206933.2:c.12295-?_14133+?del			-	C1848634 276901 Usher syndrome, type 2A
NM_206933.2(USH2A):c.14031dupA (p.Ala4678Serfs)	7399	USH2A	Pathogenic	397517988	RCV000041749;	N	MedGen:C1848634,OMIM:276901	1	215844416	215844416	NM_206933.2:c.14031dupA	NP_996816.2:p.Ala4678Serfs	NC_000001.10:g.215844416dupT	-	C1848634 276901 Usher syndrome, type 2A
NM_206933.2(USH2A):c.13711G>T (p.Glu4571Ter)	7399	USH2A	Pathogenic	751411512	RCV000216826;	N	MedGen:C1848634,OMIM:276901	1	215847542	215847542	NM_206933.2:c.13711G>T	NP_996816.2:p.Glu4571Ter	NC_000001.10:g.215847542C>A	-	C1848634 276901 Usher syndrome, type 2A
NM_206933.2(USH2A):c.13374delA (p.Glu4458Aspfs)	7399	USH2A	Pathogenic	727503715	RCV000152565;	N	MedGen:C1848634,OMIM:276901	1	215847879	215847879	NM_206933.2:c.13374delA	NP_996816.2:p.Glu4458Aspfs	NC_000001.10:g.215847879delT	-	C1848634 276901 Usher syndrome, type 2A
NM_206933.2(USH2A):c.13316C>T (p.Thr4439Ile)	7399	USH2A	Pathogenic	753330544	RCV000179630;	N	MedGen:C1848634,OMIM:276901	1	215847937	215847937	NM_206933.2:c.13316C>T	NP_996816.2:p.Thr4439Ile	NC_000001.10:g.215847937G>A	-	C1848634 276901 Usher syndrome, type 2A
NM_206933.2(USH2A):c.13313G>A (p.Trp4438Ter)	7399	USH2A	Likely pathogenic	111033417	RCV000041739;	N	MedGen:C1848634,OMIM:276901	1	215847940	215847940	NM_206933.2:c.13313G>A	NP_996816.2:p.Trp4438Ter	NC_000001.10:g.215847940C>T	-	C1848634 276901 Usher syndrome, type 2A
NM_206933.2(USH2A):c.13130C>A (p.Ser4377Ter)	7399	USH2A	Likely pathogenic	111033385	RCV000041735;	N	MedGen:C1848634,OMIM:276901	1	215848123	215848123	NM_206933.2:c.13130C>A	NP_996816.2:p.Ser4377Ter	NC_000001.10:g.215848123G>T	-	C1848634 276901 Usher syndrome, type 2A
NM_206933.2(USH2A):c.13010C>T (p.Thr4337Met)	7399	USH2A	Likely pathogenic;Pathogenic	527236137	RCV000132703;	N	MedGen:C1848634,OMIM:276901	1	215848243	215848243	NM_206933.2:c.13010C>T	NP_996816.2:p.Thr4337Met	NC_000001.10:g.215848243G>A	-	C1848634 276901 Usher syndrome, type 2A
NM_206933.2(USH2A):c.12868C>T (p.Gln4290Ter)	7399	USH2A	Pathogenic	397517983	RCV000041731;	N	MedGen:C1848634,OMIM:276901	1	215848385	215848385	NM_206933.2:c.12868C>T	NP_996816.2:p.Gln4290Ter	NC_000001.10:g.215848385G>A	-	C1848634 276901 Usher syndrome, type 2A
NM_206933.2(USH2A):c.12739G>A (p.Gly4247Arg)	7399	USH2A	Likely pathogenic	397517982	RCV000041729;	N	MedGen:C1848634,OMIM:276901	1	215848514	215848514	NM_206933.2:c.12739G>A	NP_996816.2:p.Gly4247Arg	NC_000001.10:g.215848514C>T	-	C1848634 276901 Usher syndrome, type 2A
NM_206933.2(USH2A):c.12714T>G (p.Tyr4238Ter)	7399	USH2A	Pathogenic	397517981	RCV000041728;	N	MedGen:C1848634,OMIM:276901	1	215848539	215848539	NM_206933.2:c.12714T>G	NP_996816.2:p.Tyr4238Ter	NC_000001.10:g.215848539A>C	-	C1848634 276901 Usher syndrome, type 2A
NM_206933.2(USH2A):c.12700A>C (p.Thr4234Pro)	7399	USH2A	Likely pathogenic	577938494	RCV000221320;	N	MedGen:C1848634,OMIM:276901	1	215848553	215848553	NM_206933.2:c.12700A>C	NP_996816.2:p.Thr4234Pro	NC_000001.10:g.215848553T>G	-	C1848634 276901 Usher syndrome, type 2A
NM_206933.2(USH2A):c.12295-2A>G	7399	USH2A	Pathogenic	151148854	RCV000041714;	N	MedGen:C1848634,OMIM:276901	1	215848960	215848960	NM_206933.2:c.12295-2A>G		1:g.215848960T>C	-	C1848634 276901 Usher syndrome, type 2A
NM_206933.2(USH2A):c.12295-3T>A	7399	USH2A	Pathogenic;Uncertain significance	111033518	RCV000179631; RCV000041717;	N	MedGen:C1848634,OMIM:276901; MedGen:CN169374	1	215848961	215848961	NM_206933.2:c.12295-3T>A		NC_000001.10:g.215848961A>T	-	CN169374 not specified; C1848634 276901 Usher syndrome, type 2A
NM_206933.2(USH2A):c.12294+1G>C	7399	USH2A	Likely pathogenic	111033526	RCV000041716;	N	MedGen:C1848634,OMIM:276901	1	215853490	215853490	NM_206933.2:c.12294+1G>C		NC_000001.10:g.215853490C>G	-	C1848634 276901 Usher syndrome, type 2A
NM_206933.2(USH2A):c.12100G>A (p.Glu4034Lys)	7399	USH2A	Likely pathogenic	794729203	RCV000184023;	N	MedGen:C1848634,OMIM:276901	1	215853685	215853685	NM_206933.2:c.12100G>A	NP_996816.2:p.Glu4034Lys	NC_000001.10:g.215853685C>T	-	C1848634 276901 Usher syndrome, type 2A
NM_206933.2(USH2A):c.12079C>T (p.Gln4027Ter)	7399	USH2A	Likely pathogenic	527236138	RCV000132702;	N	MedGen:C1848634,OMIM:276901	1	215853706	215853706	NM_206933.2:c.12079C>T	NP_996816.2:p.Gln4027Ter	NC_000001.10:g.215853706G>A	-	C1848634 276901 Usher syndrome, type 2A
NM_206933.2(USH2A):c.12067-1G>C	7399	USH2A	Pathogenic	397517977	RCV000041711;	N	MedGen:C1848634,OMIM:276901	1	215853719	215853719	NM_206933.2:c.12067-1G>C		NC_000001.10:g.215853719C>G	-	C1848634 276901 Usher syndrome, type 2A
NM_206933.2(USH2A):c.12067-2A>G	7399	USH2A	Pathogenic	397517978	RCV000041712;	N	MedGen:C1848634,OMIM:276901; MedGen:C3151138,OMIM:613809	1	215853720	215853720	NM_206933.2:c.12067-2A>G		NC_000001.10:g.215853720T>C	-	C3151138 613809 Retinitis pigmentosa 39; C1848634 276901 Usher syndrome, type 2A
NM_206933.2(USH2A):c.11954G>A (p.Trp3985Ter)	7399	USH2A	Pathogenic	397517976	RCV000041710;	N	MedGen:C1848634,OMIM:276901	1	215901484	215901484	NM_206933.2:c.11954G>A	NP_996816.2:p.Trp3985Ter	NC_000001.10:g.215901484C>T	-	C1848634 276901 Usher syndrome, type 2A
NM_206933.2(USH2A):c.11928G>A (p.Thr3976=)	7399	USH2A	Benign;Uncertain significance	55961436	RCV000119822; RCV000041708;	N	MedGen:C1848634,OMIM:276901; MedGen:CN169374	1	215901510	215901510	NM_206933.2:c.11928G>A	NP_996816.2:p.Thr3976=	NC_000001.10:g.215901510C>T	-	CN169374 not specified; C1848634 276901 Usher syndrome, type 2A
NM_206933.2(USH2A):c.11875_11876delCA (p.Gln3959Asnfs)	7399	USH2A	Pathogenic	779791079	RCV000179599; RCV000179600;	N	MedGen:C1848634,OMIM:276901; MedGen:C3151138,OMIM:613809	1	215901562	215901563	NM_206933.2:c.11875_11876delCA	NP_996816.2:p.Gln3959Asnfs	NC_000001.10:g.215901562_215901563delTG	-	C3151138 613809 Retinitis pigmentosa 39; C1848634 276901 Usher syndrome, type 2A
NM_206933.2(USH2A):c.11864G>A (p.Trp3955Ter)	7399	USH2A	Pathogenic	111033364	RCV000002451;	N	MedGen:C1848634,OMIM:276901	1	215901574	215901574	NM_206933.2:c.11864G>A	NP_996816.2:p.Trp3955Ter	NC_000001.10:g.215901574C>T	OMIM Allelic Variant:608400.0007	C1848634 276901 Usher syndrome, type 2A
NM_206933.2(USH2A):c.11440G>T (p.Gly3814Ter)	7399	USH2A	Pathogenic	727505337	RCV000156887;	N	MedGen:C1848634,OMIM:276901	1	215916627	215916627	NM_206933.2:c.11440G>T	NP_996816.2:p.Gly3814Ter	NC_000001.10:g.215916627C>A	-	C1848634 276901 Usher syndrome, type 2A
NM_206933.2(USH2A):c.11411delC (p.Pro3804Leufs)	7399	USH2A	Pathogenic	397517973	RCV000041696;	N	MedGen:C1848634,OMIM:276901	1	215916656	215916656	NM_206933.2:c.11411delC	NP_996816.2:p.Pro3804Leufs	NC_000001.10:g.215916656delG	-	C1848634 276901 Usher syndrome, type 2A
NM_206933.2(USH2A):c.11231+1G>T	7399	USH2A	Likely pathogenic	111033382	RCV000041690;	N	MedGen:C1848634,OMIM:276901	1	215933001	215933001	NM_206933.2:c.11231+1G>T		NC_000001.10:g.215933001C>A	-	C1848634 276901 Usher syndrome, type 2A
NM_206933.2(USH2A):c.11156G>A (p.Arg3719His)	7399	USH2A	Likely pathogenic	527236139	RCV000132701;	N	MedGen:C1848634,OMIM:276901	1	215933077	215933077	NM_206933.2:c.11156G>A	NP_996816.2:p.Arg3719His	NC_000001.10:g.215933077C>T	-	C1848634 276901 Usher syndrome, type 2A
NM_206933.2(USH2A):c.11145T>A (p.Tyr3715Ter)	7399	USH2A	Pathogenic	727504608	RCV000155859;	N	MedGen:C1848634,OMIM:276901	1	215933088	215933088	NM_206933.2:c.11145T>A	NP_996816.2:p.Tyr3715Ter	NC_000001.10:g.215933088A>T	-	C1848634 276901 Usher syndrome, type 2A
NM_206933.2(USH2A):c.11048-1G>A	7399	USH2A	Pathogenic	111033414	RCV000041686;	N	MedGen:C1848634,OMIM:276901	1	215933186	215933186	NM_206933.2:c.11048-1G>A		NC_000001.10:g.215933186C>T	-	C1848634 276901 Usher syndrome, type 2A
NM_206933.2(USH2A):c.10759C>T (p.Gln3587Ter)	7399	USH2A	Likely pathogenic	111033418	RCV000041678;	N	MedGen:C1848634,OMIM:276901	1	215953365	215953365	NM_206933.2:c.10759C>T	NP_996816.2:p.Gln3587Ter	NC_000001.10:g.215953365G>A	-	C1848634 276901 Usher syndrome, type 2A
NM_206933.2(USH2A):c.10724G>A (p.Cys3575Tyr)	7399	USH2A	Likely pathogenic	111033265	RCV000041677;	N	MedGen:C1848634,OMIM:276901	1	215955400	215955400	NM_206933.2:c.10724G>A	NP_996816.2:p.Cys3575Tyr	NC_000001.10:g.215955400C>T	-	C1848634 276901 Usher syndrome, type 2A
NM_206933.2(USH2A):c.10712C>T (p.Thr3571Met)	7399	USH2A	Likely pathogenic	202175091	RCV000041676;	N	MedGen:C1848634,OMIM:276901	1	215955412	215955412	NM_206933.2:c.10712C>T	NP_996816.2:p.Thr3571Met	NC_000001.10:g.215955412G>A	-	C1848634 276901 Usher syndrome, type 2A
NM_206933.2(USH2A):c.10561T>C (p.Trp3521Arg)	7399	USH2A	Pathogenic	111033264	RCV000041673;	N	MedGen:C1848634,OMIM:276901	1	215956104	215956104	NM_206933.2:c.10561T>C	NP_996816.2:p.Trp3521Arg	NC_000001.10:g.215956104A>G	-	C1848634 276901 Usher syndrome, type 2A
NM_206933.2(USH2A):c.10450C>T (p.Arg3484Ter)	7399	USH2A	Likely pathogenic	111033379	RCV000041669;	N	MedGen:C1848634,OMIM:276901	1	215956215	215956215	NM_206933.2:c.10450C>T	NP_996816.2:p.Arg3484Ter	NC_000001.10:g.215956215G>A	-	C1848634 276901 Usher syndrome, type 2A
NM_206933.2(USH2A):c.10190_10191delAA (p.Lys3397Argfs)	7399	USH2A	Pathogenic	397517964	RCV000041664;	N	MedGen:C1848634,OMIM:276901	1	215960208	215960209	NM_206933.2:c.10190_10191delAA	NP_996816.2:p.Lys3397Argfs	NC_000001.10:g.215960208_215960209delTT	-	C1848634 276901 Usher syndrome, type 2A
NM_206933.2(USH2A):c.10073G>A (p.Cys3358Tyr)	7399	USH2A	Pathogenic	148660051	RCV000190637; RCV000179099;	N	MedGen:C1848634,OMIM:276901; MedGen:C3151138,OMIM:613809	1	215963510	215963510	NM_206933.2:c.10073G>A	NP_996816.2:p.Cys3358Tyr	NC_000001.10:g.215963510C>T	-	C3151138 613809 Retinitis pigmentosa 39; C1848634 276901 Usher syndrome, type 2A
NM_206933.2(USH2A):c.9827C>G (p.Ser3276Ter)	7399	USH2A	Likely pathogenic	863224941	RCV000200078;	N	MedGen:C1848634,OMIM:276901	1	215972380	215972380	NM_206933.2:c.9827C>G	NP_996816.2:p.Ser3276Ter	NC_000001.10:g.215972380G>C	-	C1848634 276901 Usher syndrome, type 2A
NM_206933.2(USH2A):c.9799T>C (p.Cys3267Arg)	7399	USH2A	Likely pathogenic	111033263	RCV000041960;	N	MedGen:C1848634,OMIM:276901	1	215972408	215972408	NM_206933.2:c.9799T>C	NP_996816.2:p.Cys3267Arg	NC_000001.10:g.215972408A>G	-	C1848634 276901 Usher syndrome, type 2A
NG_009497.1:g.611401G>A	7399	USH2A	Pathogenic	760225886	RCV000217703;	N	MedGen:C1848634,OMIM:276901	1	215990338	215990338	NM_206933.2:c.9570+1G>A		NC_000001.10:g.215990338C>T	-	C1848634 276901 Usher syndrome, type 2A
NM_206933.2(USH2A):c.9459C>A (p.Cys3153Ter)	7399	USH2A	Pathogenic	73090721	RCV000041954;	N	MedGen:C1848634,OMIM:276901	1	215990450	215990450	NM_206933.2:c.9459C>A	NP_996816.2:p.Cys3153Ter	NC_000001.10:g.215990450G>A,NC_000001.10:g.215990450G>T	-	C1848634 276901 Usher syndrome, type 2A
NM_206933.2(USH2A):c.9424G>T (p.Gly3142Ter)	7399	USH2A	Pathogenic	397518048	RCV000041952;	N	MedGen:C1848634,OMIM:276901; MedGen:C3151138,OMIM:613809	1	215990485	215990485	NM_206933.2:c.9424G>T	NP_996816.2:p.Gly3142Ter	NC_000001.10:g.215990485C>A	-	C3151138 613809 Retinitis pigmentosa 39; C1848634 276901 Usher syndrome, type 2A
NM_206933.2(USH2A):c.9371+1G>C	7399	USH2A	Pathogenic	41308425	RCV000041950;	N	MedGen:C1848634,OMIM:276901	1	216011332	216011332	NM_206933.2:c.9371+1G>C		NC_000001.10:g.216011332C>G	-	C1848634 276901 Usher syndrome, type 2A
NM_206933.2(USH2A):c.9304C>T (p.Gln3102Ter)	7399	USH2A	Pathogenic	397518046	RCV000041947;	N	MedGen:C1848634,OMIM:276901	1	216011400	216011400	NM_206933.2:c.9304C>T	NP_996816.2:p.Gln3102Ter	NC_000001.10:g.216011400G>A	-	C1848634 276901 Usher syndrome, type 2A
NM_206933.2(USH2A):c.9159T>G (p.Tyr3053Ter)	7399	USH2A	Pathogenic	397518042	RCV000041939;	N	MedGen:C1848634,OMIM:276901	1	216017735	216017735	NM_206933.2:c.9159T>G	NP_996816.2:p.Tyr3053Ter	NC_000001.10:g.216017735A>C	-	C1848634 276901 Usher syndrome, type 2A
NM_206933.2(USH2A):c.8981G>A (p.Trp2994Ter)	7399	USH2A	Pathogenic	397518041	RCV000041937;	N	MedGen:C1848634,OMIM:276901	1	216019240	216019240	NM_206933.2:c.8981G>A	NP_996816.2:p.Trp2994Ter	NC_000001.10:g.216019240C>T	-	C1848634 276901 Usher syndrome, type 2A
NM_206933.2(USH2A):c.8890dupT (p.Trp2964Leufs)	7399	USH2A	Pathogenic	786205116	RCV000023702;	N	MedGen:C1848634,OMIM:276901	1	216019331	216019331	NM_206933.2:c.8890dupT	NP_996816.2:p.Trp2964Leufs	NC_000001.10:g.216019331dupA	OMIM Allelic Variant:608400.0015	C1848634 276901 Usher syndrome, type 2A
NM_206933.2(USH2A):c.(?_8682)_(8845_?)del (p.(?))	7399	USH2A	Pathogenic	-1	RCV000156302;	N	MedGen:C1848634,OMIM:276901	1	216040349	216040512	NM_206933.2:c.(?_8682)_(8845_?)del	NP_996816.2:p.(?)		-	C1848634 276901 Usher syndrome, type 2A
NM_206933.2(USH2A):c.8740C>T (p.Arg2914Ter)	7399	USH2A	Pathogenic	766590491	RCV000213731;	N	MedGen:C1848634,OMIM:276901	1	216040454	216040454	NM_206933.2:c.8740C>T	NP_996816.2:p.Arg2914Ter	NC_000001.10:g.216040454G>A	-	C1848634 276901 Usher syndrome, type 2A
NM_206933.2(USH2A):c.8682-9A>G	7399	USH2A	Likely pathogenic	372347027	RCV000178561; RCV000178560;	N	MedGen:C1848634,OMIM:276901; MedGen:C3151138,OMIM:613809	1	216040521	216040521	NM_206933.2:c.8682-9A>G		NC_000001.10:g.216040521T>C	-	C3151138 613809 Retinitis pigmentosa 39; C1848634 276901 Usher syndrome, type 2A
NG_009497.1:g.550640G>A	7399	USH2A	Pathogenic	-1	RCV000222048;	N	MedGen:C1848634,OMIM:276901	1	216051099	216051099	NM_206933.2:c.8681+1G>A			-	C1848634 276901 Usher syndrome, type 2A
NM_206933.2(USH2A):c.8559-2A>G	7399	USH2A	Pathogenic	397518039	RCV000041930; RCV000132715;	N	MedGen:C0035334,OMIM:268000,ORPHA:791,SNOMED CT:28835009; MedGen:C1848634,OMIM:276901	1	216051224	216051224	NM_206933.2:c.8559-2A>G		NC_000001.10:g.216051224T>C	-	C0035334 268000 Retinitis pigmentosa; C1848634 276901 Usher syndrome, type 2A
NM_206933.2(USH2A):c.7595-3C>G	7399	USH2A	Likely pathogenic	201657446	RCV000178475;	N	MedGen:C1848634,OMIM:276901	1	216062399	216062399	NM_206933.2:c.7595-3C>G		NC_000001.10:g.216062399G>C	-	C1848634 276901 Usher syndrome, type 2A
NM_206933.2(USH2A):c.7595-2144A>G	7399	USH2A	Pathogenic	786200928	RCV000023700;	N	MedGen:C1848634,OMIM:276901	1	216064540	216064540	NM_206933.2:c.7595-2144A>G		NC_000001.10:g.216064540T>C	OMIM Allelic Variant:608400.0013	C1848634 276901 Usher syndrome, type 2A
NM_206933.2(USH2A):c.7475C>A (p.Ser2492Ter)	7399	USH2A	Likely pathogenic	483353056	RCV000119825;	N	MedGen:C1848634,OMIM:276901	1	216073536	216073536	NM_206933.2:c.7475C>A	NP_996816.2:p.Ser2492Ter	NC_000001.10:g.216073536G>T	-	C1848634 276901 Usher syndrome, type 2A
NM_206933.2(USH2A):c.7244C>G (p.Ser2415Ter)	7399	USH2A	Pathogenic	397518029	RCV000041905;	N	MedGen:C1848634,OMIM:276901	1	216108014	216108014	NM_206933.2:c.7244C>G	NP_996816.2:p.Ser2415Ter	NC_000001.10:g.216108014G>C	-	C1848634 276901 Usher syndrome, type 2A
NM_206933.2(USH2A):c.6795_6797delATA (p.Glu2265_Tyr2266delinsAsp)	7399	USH2A	Likely pathogenic	727503723	RCV000152599;	N	MedGen:C1848634,OMIM:276901	1	216166370	216166372	NM_206933.2:c.6795_6797delATA	NP_996816.2:p.Glu2265_Tyr2266delinsAsp	NC_000001.10:g.216166370_216166372delTAT	-	C1848634 276901 Usher syndrome, type 2A
NM_206933.2(USH2A):c.6639delA (p.Lys2213Asnfs)	7399	USH2A	Pathogenic	-1	RCV000217100;	N	MedGen:C1848634,OMIM:276901	1	216172247	216172247	NM_206933.2:c.6639delA	NP_996816.2:p.Lys2213Asnfs		-	C1848634 276901 Usher syndrome, type 2A
NM_206933.2(USH2A):c.6601C>T (p.Gln2201Ter)	7399	USH2A	Pathogenic	794727579	RCV000177821;	N	MedGen:C1848634,OMIM:276901	1	216172285	216172285	NM_206933.2:c.6601C>T	NP_996816.2:p.Gln2201Ter	NC_000001.10:g.216172285G>A	-	C1848634 276901 Usher syndrome, type 2A
NM_206933.2(USH2A):c.6446C>A (p.Pro2149Gln)	7399	USH2A	Likely pathogenic	869312182	RCV000210323;	N	MedGen:C1848634,OMIM:276901	1	216173784	216173784	NM_206933.2:c.6446C>A	NP_996816.2:p.Pro2149Gln	NC_000001.10:g.216173784G>T	-	C1848634 276901 Usher syndrome, type 2A
NM_206933.2(USH2A):c.6398G>A (p.Trp2133Ter)	7399	USH2A	Pathogenic	727503725	RCV000152604;	N	MedGen:C1848634,OMIM:276901	1	216173832	216173832	NM_206933.2:c.6398G>A	NP_996816.2:p.Trp2133Ter	NC_000001.10:g.216173832C>T	-	C1848634 276901 Usher syndrome, type 2A
NM_206933.2(USH2A):c.6289_6302delATCTATTCAGGCAG (p.Ile2097Terfs)	7399	USH2A	Likely pathogenic	111033268	RCV000041884;	N	MedGen:C1848634,OMIM:276901	1	216219796	216219809	NM_206933.2:c.6289_6302delATCTATTCAGGCAG	NP_996816.2:p.Ile2097Terfs	NC_000001.10:g.216219796_216219809delCTGCCTGAATAGAT	-	C1848634 276901 Usher syndrome, type 2A
NM_206933.2(USH2A):c.6224G>A (p.Trp2075Ter)	7399	USH2A	Pathogenic	111033386	RCV000041880;	N	MedGen:C1848634,OMIM:276901	1	216219874	216219874	NM_206933.2:c.6224G>A	NP_996816.2:p.Trp2075Ter	NC_000001.10:g.216219874C>T	-	C1848634 276901 Usher syndrome, type 2A
NM_206933.2(USH2A):c.5877delT (p.Ser1961Glnfs)	7399	USH2A	Pathogenic	727505343	RCV000156895;	N	MedGen:C1848634,OMIM:276901	1	216243615	216243615	NM_206933.2:c.5877delT	NP_996816.2:p.Ser1961Glnfs	NC_000001.10:g.216243615delA	-	C1848634 276901 Usher syndrome, type 2A
NM_206933.2(USH2A):c.5858-1G>A	7399	USH2A	Pathogenic	397518023	RCV000041871;	N	MedGen:C1848634,OMIM:276901	1	216243635	216243635	NM_206933.2:c.5858-1G>A		NC_000001.10:g.216243635C>T	-	C1848634 276901 Usher syndrome, type 2A
NM_206933.2(USH2A):c.4510dupA (p.Arg1504Lysfs)	7399	USH2A	Pathogenic	727503731	RCV000152615;	N	MedGen:C1848634,OMIM:276901	1	216348711	216348711	NM_206933.2:c.4510dupA	NP_996816.2:p.Arg1504Lysfs	NC_000001.10:g.216348711dupT	-	C1848634 276901 Usher syndrome, type 2A
NM_206933.2(USH2A):c.4474G>T (p.Glu1492Ter)	7399	USH2A	Pathogenic	869312179	RCV000210331;	N	MedGen:C1848634,OMIM:276901	1	216348747	216348747	NM_206933.2:c.4474G>T	NP_996816.2:p.Glu1492Ter	NC_000001.10:g.216348747C>A	-	C1848634 276901 Usher syndrome, type 2A
NM_206933.2(USH2A):c.4405C>T (p.Gln1469Ter)	7399	USH2A	Pathogenic	797045113	RCV000190638;	N	MedGen:C1848634,OMIM:276901	1	216348816	216348816	NM_206933.2:c.4405C>T	NP_996816.2:p.Gln1469Ter	NC_000001.10:g.216348816G>A	-	C1848634 276901 Usher syndrome, type 2A
NM_206933.2(USH2A):c.4338_4339delCT (p.Cys1447Glnfs)	7399	USH2A	Pathogenic	111033367	RCV000002447;	Y	MedGen:C1848634,OMIM:276901	1	216363622	216363623	NM_206933.2:c.4338_4339delCT	NP_996816.2:p.Cys1447Glnfs	NC_000001.10:g.216363622_216363623delAG	OMIM Allelic Variant:608400.0003	C1848634 276901 Usher syndrome, type 2A
NM_206933.2(USH2A):c.4133_4134dupTC (p.Asn1379Serfs)	7399	USH2A	Pathogenic	397518015	RCV000041838;	N	MedGen:C1848634,OMIM:276901	1	216370012	216370013	NM_206933.2:c.4133_4134dupTC	NP_996816.2:p.Asn1379Serfs	NC_000001.10:g.216370012_216370013dupGA	-	C1848634 276901 Usher syndrome, type 2A
NM_206933.2(USH2A):c.3967delA (p.Met1323Terfs)	7399	USH2A	Likely pathogenic	527236136	RCV000132712;	N	MedGen:C1848634,OMIM:276901	1	216371771	216371771	NM_206933.2:c.3967delA	NP_996816.2:p.Met1323Terfs	NC_000001.10:g.216371771delT	-	C1848634 276901 Usher syndrome, type 2A
NM_206933.2(USH2A):c.3558delT (p.Cys1186Trpfs)	7399	USH2A	Pathogenic	397518014	RCV000041830;	N	MedGen:C1848634,OMIM:276901	1	216373222	216373222	NM_206933.2:c.3558delT	NP_996816.2:p.Cys1186Trpfs	NC_000001.10:g.216373222delA	-	C1848634 276901 Usher syndrome, type 2A
NM_206933.2(USH2A):c.3547_3548delAT (p.Ile1183Phefs)	7399	USH2A	Pathogenic	397518013	RCV000041829;	N	MedGen:C1848634,OMIM:276901	1	216373232	216373233	NM_206933.2:c.3547_3548delAT	NP_996816.2:p.Ile1183Phefs	NC_000001.10:g.216373232_216373233delAT	-	C1848634 276901 Usher syndrome, type 2A
NM_206933.2(USH2A):c.3435delA (p.Val1147Serfs)	7399	USH2A	Pathogenic	397518012	RCV000041828;	N	MedGen:C1848634,OMIM:276901	1	216373345	216373345	NM_206933.2:c.3435delA	NP_996816.2:p.Val1147Serfs	NC_000001.10:g.216373345delT	-	C1848634 276901 Usher syndrome, type 2A
NM_206933.2(USH2A):c.3407G>A (p.Ser1136Asn)	7399	USH2A	Uncertain significance	483353055	RCV000119824;	N	MedGen:C1848634,OMIM:276901	1	216373373	216373373	NM_206933.2:c.3407G>A	NP_996816.2:p.Ser1136Asn	NC_000001.10:g.216373373C>T	-	C1848634 276901 Usher syndrome, type 2A
NM_206933.2(USH2A):c.3367T>C (p.Tyr1123His)	7399	USH2A	Likely pathogenic	794729204	RCV000184023;	N	MedGen:C1848634,OMIM:276901	1	216373413	216373413	NM_206933.2:c.3367T>C	NP_996816.2:p.Tyr1123His	NC_000001.10:g.215853685C>T	-	C1848634 276901 Usher syndrome, type 2A
NM_206933.2(USH2A):c.3309C>A (p.Tyr1103Ter)	7399	USH2A	Pathogenic	397518011	RCV000041825;	N	MedGen:C1848634,OMIM:276901	1	216380622	216380622	NM_206933.2:c.3309C>A	NP_996816.2:p.Tyr1103Ter	NC_000001.10:g.216380622G>T	-	C1848634 276901 Usher syndrome, type 2A
NM_206933.2(USH2A):c.3129dupT (p.Val1044Cysfs)	7399	USH2A	Pathogenic	786205115	RCV000023701;	N	MedGen:C1848634,OMIM:276901	1	216390757	216390757	NM_206933.2:c.3129dupT	NP_996816.2:p.Val1044Cysfs	NC_000001.10:g.216390757dupA	OMIM Allelic Variant:608400.0014	C1848634 276901 Usher syndrome, type 2A
NM_206933.2(USH2A):c.2983C>T (p.Gln995Ter)	7399	USH2A	Pathogenic	527236135	RCV000132711;	N	MedGen:C1848634,OMIM:276901	1	216405305	216405305	NM_206933.2:c.2983C>T	NP_996816.2:p.Gln995Ter	NC_000001.10:g.216405305G>A	-	C1848634 276901 Usher syndrome, type 2A
NM_206933.2(USH2A):c.2898delG (p.Thr967Leufs)	7399	USH2A	Pathogenic	397518008	RCV000002446;	N	MedGen:C1848634,OMIM:276901	1	216405390	216405390	NM_206933.2:c.2898delG	NP_996816.2:p.Thr967Leufs	NC_000001.10:g.216405390delC	OMIM Allelic Variant:608400.0002	C1848634 276901 Usher syndrome, type 2A
NM_206933.2(USH2A):c.2541C>A (p.Cys847Ter)	7399	USH2A	Pathogenic	727503736	RCV000152630;	N	MedGen:C1848634,OMIM:276901	1	216420195	216420195	NM_206933.2:c.2541C>A	NP_996816.2:p.Cys847Ter	NC_000001.10:g.216420195G>T	-	C1848634 276901 Usher syndrome, type 2A
NM_206933.2(USH2A):c.2299delG (p.Glu767Serfs)	7399	USH2A	Pathogenic	80338903	RCV000002445; RCV000191141; RCV000032524; RCV000210326;	N	MedGen:C0035334,OMIM:268000,ORPHA:791,SNOMED CT:28835009; MedGen:C0854723,SNOMED CT:314407005; MedGen:C1848634,OMIM:276901; MedGen:C3151138,OMIM:613809	1	216420437	216420437	NM_206933.2:c.2299delG	NP_996816.2:p.Glu767Serfs	NC_000001.10:g.216420437delC	OMIM Allelic Variant:608400.0001	C0854723 Retinal dystrophy; C0035334 268000 Retinitis pigmentosa; C3151138 613809 Retinitis pigmentosa 39; C1848634 276901 Usher syndrome, type 2A
NM_206933.2(USH2A):c.2276G>T (p.Cys759Phe)	7399	USH2A	Likely pathogenic;Pathogenic;Uncertain significance	80338902	RCV000174625; RCV000002450; RCV000032523; RCV000041811;	N	MedGen:C0035334,OMIM:268000,ORPHA:791,SNOMED CT:28835009; MedGen:C1848634,OMIM:276901; MedGen:C3151138,OMIM:613809	1	216420460	216420460	NM_206933.2:c.2276G>T	NP_996816.2:p.Cys759Phe	NC_000001.10:g.216420460C>A	OMIM Allelic Variant:608400.0006	C0035334 268000 Retinitis pigmentosa; C3151138 613809 Retinitis pigmentosa 39; C1848634 276901 Usher syndrome, type 2A
NM_206933.2(USH2A):c.2209C>T (p.Arg737Ter)	7399	USH2A	Pathogenic	111033334	RCV000002456; RCV000002457;	N	MedGen:C1848634,OMIM:276901; MedGen:C3151138,OMIM:613809	1	216420527	216420527	NM_206933.2:c.2209C>T	NP_996816.2:p.Arg737Ter	NC_000001.10:g.216420527G>A	OMIM Allelic Variant:608400.0011	C3151138 613809 Retinitis pigmentosa 39; C1848634 276901 Usher syndrome, type 2A
NM_206933.2(USH2A):c.1992dupT (p.Lys665Terfs)	7399	USH2A	Pathogenic	730880349	RCV000155748;	N	MedGen:C1848634,OMIM:276901	1	216424420	216424420	NM_206933.2:c.1992dupT	NP_996816.2:p.Lys665Terfs	NC_000001.10:g.216424420dupA	-	C1848634 276901 Usher syndrome, type 2A
NM_206933.2(USH2A):c.1841-2A>G	7399	USH2A	Pathogenic	397518003	RCV000041799;	N	MedGen:C1848634,OMIM:276901	1	216462754	216462754	NM_206933.2:c.1841-2A>G		NC_000001.10:g.216462754T>C	-	C1848634 276901 Usher syndrome, type 2A
NC_000001.11:g.(?_216292175)_(216327654_?)del	7399	USH2A	Pathogenic	-1	RCV000155413;	N	MedGen:C1848634,OMIM:276901	1	216465517	216500996	-	-		-	C1848634 276901 Usher syndrome, type 2A
NM_206933.2(USH2A):c.(?_1645)_(1840_?)del (p.(?))	7399	USH2A	Pathogenic	-1	RCV000155414;	N	MedGen:C1848634,OMIM:276901	1	216465517	216465712	NM_206933.2:c.(?_1645)_(1840_?)del	NP_996816.2:p.(?)		-	C1848634 276901 Usher syndrome, type 2A
NM_206933.2(USH2A):c.1724G>T (p.Cys575Phe)	7399	USH2A	Uncertain significance	483353054	RCV000119823;	N	MedGen:C1848634,OMIM:276901	1	216465633	216465633	NM_206933.2:c.1724G>T	NP_996816.2:p.Cys575Phe	NC_000001.10:g.216465633C>A	-	C1848634 276901 Usher syndrome, type 2A
NM_206933.2(USH2A):c.1606T>C (p.Cys536Arg)	7399	USH2A	Pathogenic	111033273	RCV000041794;	N	MedGen:C1848634,OMIM:276901	1	216495263	216495263	NM_206933.2:c.1606T>C	NP_996816.2:p.Cys536Arg	NC_000001.10:g.216495263A>G	-	C1848634 276901 Usher syndrome, type 2A
NM_206933.2(USH2A):c.1256G>T (p.Cys419Phe)	7399	USH2A	Pathogenic	121912600	RCV000002453;	N	MedGen:C1848634,OMIM:276901	1	216497582	216497582	NM_206933.2:c.1256G>T	NP_996816.2:p.Cys419Phe	NC_000001.10:g.216497582C>A	OMIM Allelic Variant:608400.0009	C1848634 276901 Usher syndrome, type 2A
NM_206933.2(USH2A):c.1227G>C (p.Trp409Cys)	7399	USH2A	Likely pathogenic	397517979	RCV000041715;	N	MedGen:C1848634,OMIM:276901	1	216497611	216497611	NM_206933.2:c.1227G>C	NP_996816.2:p.Trp409Cys	NC_000001.10:g.216497611C>G	-	C1848634 276901 Usher syndrome, type 2A
NM_206933.2(USH2A):c.1214delA (p.Asn405Ilefs)	7399	USH2A	Pathogenic	750228923	RCV000169682;	N	MedGen:C1848634,OMIM:276901	1	216497624	216497624	NM_206933.2:c.1214delA	NP_996816.2:p.Asn405Ilefs	NC_000001.10:g.216497624delT	-	C1848634 276901 Usher syndrome, type 2A
NM_206933.2(USH2A):c.1143+1G>A	7399	USH2A	Pathogenic	397517974	RCV000041697;	N	MedGen:C1848634,OMIM:276901	1	216498646	216498646	NM_206933.2:c.1143+1G>A		NC_000001.10:g.216498646C>T	-	C1848634 276901 Usher syndrome, type 2A
NM_206933.2(USH2A):c.1036A>C (p.Asn346His)	7399	USH2A	Likely pathogenic	369522997	RCV000041668;	N	MedGen:C1848634,OMIM:276901	1	216498754	216498754	NM_206933.2:c.1036A>C	NP_996816.2:p.Asn346His	NC_000001.10:g.216498754T>G	-	C1848634 276901 Usher syndrome, type 2A
NM_206933.2(USH2A):c.1000C>T (p.Arg334Trp)	7399	USH2A	Pathogenic	397517963	RCV000213203;	N	MedGen:C1848634,OMIM:276901	1	216498790	216498790	NM_206933.2:c.1000C>T	NP_996816.2:p.Arg334Trp		-	C1848634 276901 Usher syndrome, type 2A
NM_206933.2(USH2A):c.956G>A (p.Cys319Tyr)	7399	USH2A	Pathogenic	121912599	RCV000002449;	N	MedGen:C1848634,OMIM:276901	1	216498834	216498834	NM_206933.2:c.956G>A	NP_996816.2:p.Cys319Tyr	NC_000001.10:g.216498834C>T	OMIM Allelic Variant:608400.0005	C1848634 276901 Usher syndrome, type 2A
NM_206933.2(USH2A):c.949C>A (p.Arg317=)	7399	USH2A	Pathogenic	111033272	RCV000002452;	N	MedGen:C1848634,OMIM:276901	1	216498841	216498841	NM_206933.2:c.949C>A	NP_996816.2:p.Arg317=	NC_000001.10:g.216498841G>T	OMIM Allelic Variant:608400.0008	C1848634 276901 Usher syndrome, type 2A
NM_206933.2(USH2A):c.920_923dupGCCA (p.His308Glnfs)	7399	USH2A	Pathogenic	397518043	RCV000041941;	N	MedGen:C1848634,OMIM:276901	1	216498867	216498870	NM_206933.2:c.920_923dupGCCA	NP_996816.2:p.His308Glnfs	NC_000001.10:g.216498867_216498870dupTGGC	-	C1848634 276901 Usher syndrome, type 2A
NM_206933.2(USH2A):c.820C>T (p.Arg274Ter)	7399	USH2A	Pathogenic	397518036	RCV000041921;	N	MedGen:C1848634,OMIM:276901	1	216500961	216500961	NM_206933.2:c.820C>T	NP_996816.2:p.Arg274Ter	NC_000001.10:g.216500961G>A	-	C1848634 276901 Usher syndrome, type 2A
NM_206933.2(USH2A):c.779T>G (p.Leu260Ter)	7399	USH2A	Pathogenic	121912598	RCV000002448;	N	MedGen:C1848634,OMIM:276901	1	216538300	216538300	NM_206933.2:c.779T>G	NP_996816.2:p.Leu260Ter	NC_000001.10:g.216538300A>C	OMIM Allelic Variant:608400.0004	C1848634 276901 Usher syndrome, type 2A
NM_206933.2(USH2A):c.653T>A (p.Val218Glu)	7399	USH2A	Likely pathogenic	397518026	RCV000041890;	N	MedGen:C1848634,OMIM:276901	1	216538426	216538426	NM_206933.2:c.653T>A	NP_996816.2:p.Val218Glu	NC_000001.10:g.216538426A>T	-	C1848634 276901 Usher syndrome, type 2A
NM_206933.2(USH2A):c.632G>A (p.Trp211Ter)	7399	USH2A	Pathogenic	727504893	RCV000156272;	N	MedGen:C1848634,OMIM:276901	1	216591875	216591875	NM_206933.2:c.632G>A	NP_996816.2:p.Trp211Ter	NC_000001.10:g.216591875C>T	-	C1848634 276901 Usher syndrome, type 2A
NG_009497.1:g.9717G>C	7399	USH2A	Pathogenic	-1	RCV000220465;	N	MedGen:C1848634,OMIM:276901	1	216592022	216592022	NM_206933.2:c.486-1G>C			-	C1848634 276901 Usher syndrome, type 2A
NM_206933.2(USH2A):c.240_241insGATC (p.Gln81Aspfs)	7399	USH2A	Pathogenic	587776538	RCV000002454; RCV000002455;	Y	MedGen:C1848634,OMIM:276901; MedGen:C3151138,OMIM:613809	1	216595438	216595439	NM_206933.2:c.240_241insGATC	NP_996816.2:p.Gln81Aspfs		OMIM Allelic Variant:608400.0010	C3151138 613809 Retinitis pigmentosa 39; C1848634 276901 Usher syndrome, type 2A