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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 1B (C536485)
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:

11444

Name:

Usher syndrome, type 1B

Definition:

Alternative IDs:

OMIM:276900

ParentIDs:

MESH:D052245

TreeNumbers:

C09.218.458.341.186.500.500/C536485 |C09.218.458.341.887.886/C536485 |C10.597.751.418.341.186.500.500/C536485 |C10.597.751.418.341.887.886/C536485 |C10.597.751.941.162.625.500/C536485 |C11.768.585.658.500.813/C536485 |C11.966.075.375.500/C536485 |C16.131.077.29

Synonyms:

Slim Mappings:

Reference:

MedGen: C536485
MeSH: C536485
OMIM: 276900;

Genes: MYO7A;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0008555	Absent vestibular function
3	HP:0001425	Heterogeneous
4	HP:0001270	Motor delay
5	HP:0000510	Rod-cone dystrophy
6	HP:0000407	Sensorineural hearing impairment
7	HP:0000550	Undetectable electroretinogram
8	HP:0000572	Visual loss

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_173477.4(USH1G):c.46C>G (p.Leu16Val)	-1	-	Likely pathogenic	-1	RCV000220910;	N	MedGen:C1568247,OMIM:276900	17	72919123	72919123	NM_173477.4:c.46C>G	NP_775748.2:p.Leu16Val		-	C1568247 276900 Usher syndrome, type 1
NM_022124.5(CDH23):c.193delC (p.Leu65Trpfs)	-1	-	Pathogenic	796051861	RCV000005207; RCV000005208; RCV000215123;	N	MedGen:C1568247,OMIM:276900; MedGen:C1832845,OMIM:601067; MedGen:C3276419	10	73269886	73269886	NM_022124.5:c.193delC	NP_071407.4:p.Leu65Trpfs	NC_000010.10:g.73269886delC	OMIM Allelic Variant:605516.0011	C1568247 276900 Usher syndrome, type 1; C1832845 601067 Usher syndrome, type 1D
NM_022124.5(CDH23):c.3625A>G (p.Thr1209Ala)	-1	-	Benign;Pathogenic;Uncertain significance	41281314	RCV000005210; RCV000217147; RCV000086973; RCV000039159;	N	MedGen:C1568247,OMIM:276900; MedGen:C1832845,OMIM:601067; MedGen:CN169374; MedGen:CN221809	10	73490271	73490271	NM_022124.5:c.3625A>G	NP_071407.4:p.Thr1209Ala	NC_000010.10:g.73490271A>G	OMIM Allelic Variant:605516.0013	CN221809 not provided; CN169374 not specified; C1568247 276900 Usher syndrome, type 1; C1832845 601067 Usher syndrome, type 1D
NM_022124.5(CDH23):c.3178C>T (p.Arg1060Trp)	64072	CDH23	Likely pathogenic;Uncertain significance	201536811	RCV000221834; RCV000217321;	N	MedGen:C1568247,OMIM:276900; MedGen:CN169374	10	73468926	73468926	NM_022124.5:c.3178C>T	NP_071407.4:p.Arg1060Trp		-	CN169374 not specified; C1568247 276900 Usher syndrome, type 1
NM_022124.5(CDH23):c.9127C>T (p.Arg3043Trp)	64072	CDH23	Likely pathogenic	375907609	RCV000214890;	N	MedGen:C1568247,OMIM:276900	10	73571121	73571121	NM_022124.5:c.9127C>T	NP_071407.4:p.Arg3043Trp	NC_000010.10:g.73571121C>T	-	C1568247 276900 Usher syndrome, type 1
NM_022124.5(CDH23):c.9565C>T (p.Arg3189Trp)	64072	CDH23	Pathogenic;Uncertain significance	121908353	RCV000005209; RCV000222140; RCV000039312;	N	MedGen:C1568247,OMIM:276900; MedGen:C3276419; MedGen:CN169374	10	73572579	73572579	NM_022124.5:c.9565C>T	NP_071407.4:p.Arg3189Trp	NC_000010.10:g.73572579C>T	OMIM Allelic Variant:605516.0012	CN169374 not specified; C1568247 276900 Usher syndrome, type 1
NM_006383.3(CIB2):c.192G>C (p.Glu64Asp)	10518	CIB2	Pathogenic	145415848	RCV000223233; RCV000032890;	N	MedGen:C1568247,OMIM:276900; MedGen:C3553944,OMIM:614869	15	78403513	78403513	NM_006383.3:c.192G>C	NP_006374.1:p.Glu64Asp	NC_000015.9:g.78403513C>G	OMIM Allelic Variant:605564.0004	C1568247 276900 Usher syndrome, type 1; C3553944 614869 Usher syndrome, type 1J
NM_000260.3(MYO7A):c.1A>G (p.Met1Val)	4647	MYO7A	Likely pathogenic	797044518	RCV000156361;	N	MedGen:C1568247,OMIM:276900	11	76841681	76841681	NM_000260.3:c.1A>G	NP_000251.3:p.Met1Val	NC_000011.9:g.76841681A>G	-	C1568247 276900 Usher syndrome, type 1
NM_000260.3(MYO7A):c.19-1G>A	4647	MYO7A	Likely pathogenic	111033426	RCV000036067;	N	MedGen:C1568247,OMIM:276900	11	76853754	76853754	NM_000260.3:c.19-1G>A		NC_000011.9:g.76853754G>A	-	C1568247 276900 Usher syndrome, type 1
NM_000260.3(MYO7A):c.73G>A (p.Gly25Arg)	4647	MYO7A	Likely pathogenic	782252317	RCV000154329;	N	MedGen:C1568247,OMIM:276900	11	76853809	76853809	NM_000260.3:c.73G>A	NP_000251.3:p.Gly25Arg	NC_000011.9:g.76853809G>A	-	C1568247 276900 Usher syndrome, type 1
NM_000260.3(MYO7A):c.77C>A (p.Ala26Glu)	4647	MYO7A	Likely pathogenic	369125667	RCV000154340;	N	MedGen:C1568247,OMIM:276900	11	76853813	76853813	NM_000260.3:c.77C>A	NP_000251.3:p.Ala26Glu	NC_000011.9:g.76853813C>A	-	C1568247 276900 Usher syndrome, type 1
NM_000260.3(MYO7A):c.93C>A (p.Cys31Ter)	4647	MYO7A	Pathogenic	35689081	RCV000012634; RCV000154341;	N	MedGen:C1568247,OMIM:276900; MedGen:C1848638	11	76853829	76853829	NM_000260.3:c.93C>A	NP_000251.3:p.Cys31Ter	NC_000011.9:g.76853829C>A,NC_000011.9:g.76853829C>T	OMIM Allelic Variant:276903.0013	C1568247 276900 Usher syndrome, type 1; C1848638 Usher syndrome, type 1B
NM_000260.3(MYO7A):c.132+5G>A	4647	MYO7A	Likely pathogenic	397516284	RCV000036044;	N	MedGen:C1568247,OMIM:276900	11	76853873	76853873	NM_000260.3:c.132+5G>A		NC_000011.9:g.76853873G>A	-	C1568247 276900 Usher syndrome, type 1
NM_000260.3(MYO7A):c.141G>A (p.Trp47Ter)	4647	MYO7A	Pathogenic	397516285	RCV000036050;	N	MedGen:C1568247,OMIM:276900	11	76858852	76858852	NM_000260.3:c.141G>A	NP_000251.3:p.Trp47Ter	NC_000011.9:g.76858852G>A	-	C1568247 276900 Usher syndrome, type 1
NM_000260.3(MYO7A):c.223delG (p.Asp75ThrfsTer31)	4647	MYO7A	Pathogenic	-1	RCV000222769;	N	MedGen:C1568247,OMIM:276900	11	76858934	76858934	NM_000260.3:c.223delG	NP_000251.3:p.Asp75ThrfsTer31		-	C1568247 276900 Usher syndrome, type 1
NM_000260.3(MYO7A):c.287C>T (p.Thr96Met)	4647	MYO7A	Likely pathogenic	781811444	RCV000156777;	N	MedGen:C1568247,OMIM:276900	11	76866954	76866954	NM_000260.3:c.287C>T	NP_000251.3:p.Thr96Met	NC_000011.9:g.76866954C>T	-	C1568247 276900 Usher syndrome, type 1
NM_000260.3(MYO7A):c.314T>G (p.Val105Gly)	4647	MYO7A	Likely pathogenic	-1	RCV000219484;	N	MedGen:C1568247,OMIM:276900	11	76866981	76866981	NM_000260.3:c.314T>G	NP_000251.3:p.Val105Gly		-	C1568247 276900 Usher syndrome, type 1
NM_000260.3(MYO7A):c.397C>T (p.His133Tyr)	4647	MYO7A	Likely pathogenic	111033403	RCV000036132;	N	MedGen:C1568247,OMIM:276900	11	76867064	76867064	NM_000260.3:c.397C>T	NP_000251.3:p.His133Tyr	NC_000011.9:g.76867064C>A,NC_000011.9:g.76867064C>T	-	C1568247 276900 Usher syndrome, type 1
NM_000260.3(MYO7A):c.397dupC (p.His133Profs)	4647	MYO7A	Likely pathogenic	111033187	RCV000036133;	N	MedGen:C1568247,OMIM:276900	11	76867064	76867064	NM_000260.3:c.397dupC	NP_000251.3:p.His133Profs	NC_000011.9:g.76867064dupC	-	C1568247 276900 Usher syndrome, type 1
NM_000260.3(MYO7A):c.401T>A (p.Ile134Asn)	4647	MYO7A	Likely pathogenic	111033181	RCV000036134;	N	MedGen:C1568247,OMIM:276900	11	76867068	76867068	NM_000260.3:c.401T>A	NP_000251.3:p.Ile134Asn	NC_000011.9:g.76867068T>A	-	C1568247 276900 Usher syndrome, type 1
NM_000260.3(MYO7A):c.448C>T (p.Arg150Ter)	4647	MYO7A	Pathogenic	121965079	RCV000012621; RCV000036148;	N	MedGen:C1568247,OMIM:276900; MedGen:C1848638	11	76867115	76867115	NM_000260.3:c.448C>T	NP_000251.3:p.Arg150Ter	NC_000011.9:g.76867115C>A,NC_000011.9:g.76867115C>T	OMIM Allelic Variant:276903.0001	C1568247 276900 Usher syndrome, type 1; C1848638 Usher syndrome, type 1B
NM_000260.3(MYO7A):c.458G>A (p.Cys153Tyr)	4647	MYO7A	Likely pathogenic	397516312	RCV000036154;	N	MedGen:C1568247,OMIM:276900	11	76867125	76867125	NM_000260.3:c.458G>A	NP_000251.3:p.Cys153Tyr	NC_000011.9:g.76867125G>A	-	C1568247 276900 Usher syndrome, type 1
NM_000260.3(MYO7A):c.470+1G>A	4647	MYO7A	Pathogenic	797044510	RCV000154316;	N	MedGen:C1568247,OMIM:276900	11	76867138	76867138	NM_000260.3:c.470+1G>A		NC_000011.9:g.76867138G>A	-	C1568247 276900 Usher syndrome, type 1
NM_000260.3(MYO7A):c.494C>T (p.Thr165Met)	4647	MYO7A	Pathogenic	111033174	RCV000036169;	N	MedGen:C1568247,OMIM:276900	11	76867729	76867729	NM_000260.3:c.494C>T	NP_000251.3:p.Thr165Met	NC_000011.9:g.76867729C>T	-	C1568247 276900 Usher syndrome, type 1
NM_000260.3(MYO7A):c.496delG (p.Glu166Argfs)	4647	MYO7A	Pathogenic	111033448	RCV000036171;	N	MedGen:C1568247,OMIM:276900	11	76867731	76867731	NM_000260.3:c.496delG	NP_000251.3:p.Glu166Argfs	NC_000011.9:g.76867731delG	-	C1568247 276900 Usher syndrome, type 1
NM_000260.3(MYO7A):c.582delC (p.Ile195Phefs)	4647	MYO7A	Pathogenic	111033238	RCV000036206;	N	MedGen:C1568247,OMIM:276900	11	76867817	76867817	NM_000260.3:c.582delC	NP_000251.3:p.Ile195Phefs	NC_000011.9:g.76867817delC	-	C1568247 276900 Usher syndrome, type 1
NM_000260.3(MYO7A):c.587T>C (p.Leu196Pro)	4647	MYO7A	Likely pathogenic	397516324	RCV000036211;	N	MedGen:C1568247,OMIM:276900	11	76867822	76867822	NM_000260.3:c.587T>C	NP_000251.3:p.Leu196Pro	NC_000011.9:g.76867822T>C	-	C1568247 276900 Usher syndrome, type 1
NM_000260.3(MYO7A):c.631A>G (p.Ser211Gly)	4647	MYO7A	Likely pathogenic	111033486	RCV000036230;	N	MedGen:C1568247,OMIM:276900	11	76867946	76867946	NM_000260.3:c.631A>G	NP_000251.3:p.Ser211Gly	NC_000011.9:g.76867946A>G	-	C1568247 276900 Usher syndrome, type 1
NM_000260.3(MYO7A):c.635G>A (p.Arg212His)	4647	MYO7A	Pathogenic	28934610	RCV000012624; RCV000036232;	N	MedGen:C1568247,OMIM:276900; MedGen:C1848638	11	76867950	76867950	NM_000260.3:c.635G>A	NP_000251.3:p.Arg212His	NC_000011.9:g.76867950G>A	OMIM Allelic Variant:276903.0004	C1568247 276900 Usher syndrome, type 1; C1848638 Usher syndrome, type 1B
NM_000260.3(MYO7A):c.640G>A (p.Gly214Arg)	4647	MYO7A	Pathogenic	111033283	RCV000036233;	N	MedGen:C1568247,OMIM:276900	11	76867955	76867955	NM_000260.3:c.640G>A	NP_000251.3:p.Gly214Arg	NC_000011.9:g.76867955G>A	-	C1568247 276900 Usher syndrome, type 1
NM_000260.3(MYO7A):c.652G>A (p.Asp218Asn)	4647	MYO7A	Likely pathogenic;Pathogenic	201539845	RCV000022815; RCV000215956;	N	MedGen:C1568247,OMIM:276900; MedGen:C1832475,OMIM:601317	11	76867967	76867967	NM_000260.3:c.652G>A	NP_000251.3:p.Asp218Asn	NC_000011.9:g.76867967G>A	OMIM Allelic Variant:276903.0019	C1832475 601317 Deafness, autosomal dominant 11; C1568247 276900 Usher syndrome, type 1
NM_000260.3(MYO7A):c.689C>T (p.Ala230Val)	4647	MYO7A	Pathogenic	797044512	RCV000155771;	N	MedGen:C1568247,OMIM:276900	11	76868004	76868004	NM_000260.3:c.689C>T	NP_000251.3:p.Ala230Val	NC_000011.9:g.76868004C>T	-	C1568247 276900 Usher syndrome, type 1
NM_000260.3(MYO7A):c.700C>T (p.Gln234Ter)	4647	MYO7A	Pathogenic	41298133	RCV000012622; RCV000036246;	N	MedGen:C1568247,OMIM:276900; MedGen:C1848638	11	76868015	76868015	NM_000260.3:c.700C>T	NP_000251.3:p.Gln234Ter	NC_000011.9:g.76868015C>T	OMIM Allelic Variant:276903.0002	C1568247 276900 Usher syndrome, type 1; C1848638 Usher syndrome, type 1B
NM_000260.3(MYO7A):c.722G>A (p.Arg241His)	4647	MYO7A	Likely pathogenic	111033284	RCV000036247;	N	MedGen:C1568247,OMIM:276900	11	76868037	76868037	NM_000260.3:c.722G>A	NP_000251.3:p.Arg241His	NC_000011.9:g.76868037G>A	-	C1568247 276900 Usher syndrome, type 1
NM_000260.3(MYO7A):c.973_976delATCC (p.Ile325Cysfs)	4647	MYO7A	Pathogenic	797044490	RCV000151481;	N	MedGen:C1568247,OMIM:276900	11	76869446	76869449	NM_000260.3:c.973_976delATCC	NP_000251.3:p.Ile325Cysfs	NC_000011.9:g.76869446_76869449delATCC	-	C1568247 276900 Usher syndrome, type 1
NM_000260.3(MYO7A):c.977T>A (p.Leu326Gln)	4647	MYO7A	Likely pathogenic	797044491	RCV000151482;	N	MedGen:C1568247,OMIM:276900	11	76869450	76869450	NM_000260.3:c.977T>A	NP_000251.3:p.Leu326Gln	NC_000011.9:g.76869450T>A	-	C1568247 276900 Usher syndrome, type 1
NM_000260.3(MYO7A):c.999T>G (p.Tyr333Ter)	4647	MYO7A	Pathogenic	111033285	RCV000036253;	N	MedGen:C1568247,OMIM:276900	11	76869472	76869472	NM_000260.3:c.999T>G	NP_000251.3:p.Tyr333Ter	NC_000011.9:g.76869472T>G	-	C1568247 276900 Usher syndrome, type 1
NM_000260.3(MYO7A):c.1097T>C (p.Leu366Pro)	4647	MYO7A	Likely pathogenic	397516281	RCV000036037;	N	MedGen:C1568247,OMIM:276900	11	76871225	76871225	NM_000260.3:c.1097T>C	NP_000251.3:p.Leu366Pro	NC_000011.9:g.76871225T>C	-	C1568247 276900 Usher syndrome, type 1
NM_000260.3(MYO7A):c.1200+1G>A	4647	MYO7A	Pathogenic	397516283	RCV000036042;	N	MedGen:C1568247,OMIM:276900	11	76871329	76871329	NM_000260.3:c.1200+1G>A		NC_000011.9:g.76871329G>A	-	C1568247 276900 Usher syndrome, type 1
NM_000260.3(MYO7A):c.1208A>G (p.Tyr403Cys)	4647	MYO7A	Likely pathogenic	797044511	RCV000155424;	N	MedGen:C1568247,OMIM:276900	11	76872026	76872026	NM_000260.3:c.1208A>G	NP_000251.3:p.Tyr403Cys	NC_000011.9:g.76872026A>G	-	C1568247 276900 Usher syndrome, type 1
NM_000260.3(MYO7A):c.1344-2A>G	4647	MYO7A	Pathogenic	111033415	RCV000036047;	N	MedGen:C1568247,OMIM:276900	11	76873164	76873164	NM_000260.3:c.1344-2A>G		NC_000011.9:g.76873164A>G	-	C1568247 276900 Usher syndrome, type 1
NM_000260.3(MYO7A):c.1370C>T (p.Ala457Val)	4647	MYO7A	Likely pathogenic	111033286	RCV000036048;	N	MedGen:C1568247,OMIM:276900	11	76873192	76873192	NM_000260.3:c.1370C>T	NP_000251.3:p.Ala457Val	NC_000011.9:g.76873192C>T	-	C1568247 276900 Usher syndrome, type 1
NM_000260.3(MYO7A):c.1401_1403dupGCA (p.Arg467_His468insGln)	4647	MYO7A	Likely pathogenic	111033219	RCV000036049;	N	MedGen:C1568247,OMIM:276900	11	76873223	76873225	NM_000260.3:c.1401_1403dupGCA	NP_000251.3:p.Arg467_His468insGln	NC_000011.9:g.76873223_76873225dupGCA	-	C1568247 276900 Usher syndrome, type 1
NM_000260.3(MYO7A):c.1556G>A (p.Gly519Asp)	4647	MYO7A	Pathogenic	111033206	RCV000036055;	N	MedGen:C1568247,OMIM:276900	11	76873900	76873900	NM_000260.3:c.1556G>A	NP_000251.3:p.Gly519Asp	NC_000011.9:g.76873900G>A	-	C1568247 276900 Usher syndrome, type 1
NM_000260.3(MYO7A):c.1556delG (p.Gly519Alafs)	4647	MYO7A	Pathogenic	111033206	RCV000036056;	N	MedGen:C1568247,OMIM:276900	11	76873900	76873900	NM_000260.3:c.1556delG	NP_000251.3:p.Gly519Alafs	NC_000011.9:g.76873900delG	-	C1568247 276900 Usher syndrome, type 1
NM_000260.3(MYO7A):c.1619C>A (p.Pro540His)	4647	MYO7A	Likely pathogenic	782607566	RCV000222836;	N	MedGen:C1568247,OMIM:276900	11	76873963	76873963	NM_000260.3:c.1619C>A	NP_000251.3:p.Pro540His	NC_000011.9:g.76873963C>A	-	C1568247 276900 Usher syndrome, type 1
NM_000260.3(MYO7A):c.1690+1G>A	4647	MYO7A	Likely pathogenic	111033389	RCV000036059;	N	MedGen:C1568247,OMIM:276900	11	76874035	76874035	NM_000260.3:c.1690+1G>A		NC_000011.9:g.76874035G>A	-	C1568247 276900 Usher syndrome, type 1
NM_000260.3(MYO7A):c.1833_1838dupCAGCCA (p.Ser612_Gln613insHisSer)	4647	MYO7A	Likely pathogenic	397516290	RCV000036063;	N	MedGen:C1568247,OMIM:276900	11	76883829	76883834	NM_000260.3:c.1833_1838dupCAGCCA	NP_000251.3:p.Ser612_Gln613insHisSer	NC_000011.9:g.76883829_76883834dupCAGCCA	-	C1568247 276900 Usher syndrome, type 1
NM_000260.3(MYO7A):c.1900C>T (p.Arg634Ter)	4647	MYO7A	Pathogenic	111033180	RCV000036068;	N	MedGen:C1568247,OMIM:276900	11	76883896	76883896	NM_000260.3:c.1900C>T	NP_000251.3:p.Arg634Ter	NC_000011.9:g.76883896C>T	-	C1568247 276900 Usher syndrome, type 1
NM_000260.3(MYO7A):c.1952_1953insAG (p.Cys652Glyfs)	4647	MYO7A	Likely pathogenic	111033510	RCV000036069;	N	MedGen:C1568247,OMIM:276900	11	76885818	76885819	NM_000260.3:c.1952_1953insAG	NP_000251.3:p.Cys652Glyfs	NC_000011.9:g.76885818_76885819insAG	-	C1568247 276900 Usher syndrome, type 1
NM_000260.3(MYO7A):c.1952T>C (p.Leu651Pro)	4647	MYO7A	Pathogenic	-1	RCV000219432;	N	MedGen:C1568247,OMIM:276900	11	76885818	76885818	NM_000260.3:c.1952T>C	NP_000251.3:p.Leu651Pro		-	C1568247 276900 Usher syndrome, type 1
NM_000260.3(MYO7A):c.1963C>T (p.Gln655Ter)	4647	MYO7A	Pathogenic	397516291	RCV000036071;	N	MedGen:C1568247,OMIM:276900	11	76885829	76885829	NM_000260.3:c.1963C>T	NP_000251.3:p.Gln655Ter	NC_000011.9:g.76885829C>T	-	C1568247 276900 Usher syndrome, type 1
NM_000260.3(MYO7A):c.1996C>T (p.Arg666Ter)	4647	MYO7A	Pathogenic	121965085	RCV000012635; RCV000151490;	N	MedGen:C1568247,OMIM:276900; MedGen:C1848638	11	76885862	76885862	NM_000260.3:c.1996C>T	NP_000251.3:p.Arg666Ter	NC_000011.9:g.76885862C>T	OMIM Allelic Variant:276903.0016	C1568247 276900 Usher syndrome, type 1; C1848638 Usher syndrome, type 1B
NM_000260.3(MYO7A):c.2005C>T (p.Arg669Ter)	4647	MYO7A	Pathogenic	111033201	RCV000036073;	N	MedGen:C1568247,OMIM:276900	11	76885871	76885871	NM_000260.3:c.2005C>T	NP_000251.3:p.Arg669Ter	NC_000011.9:g.76885871C>T	-	C1568247 276900 Usher syndrome, type 1
NM_000260.3(MYO7A):c.2094+1G>A	4647	MYO7A	Pathogenic	111033404	RCV000036075;	N	MedGen:C1568247,OMIM:276900	11	76885961	76885961	NM_000260.3:c.2094+1G>A		NC_000011.9:g.76885961G>A,NC_000011.9:g.76885961G>C	-	C1568247 276900 Usher syndrome, type 1
NM_000260.3(MYO7A):c.2094+1G>C	4647	MYO7A	Likely pathogenic	111033404	RCV000036076;	N	MedGen:C1568247,OMIM:276900	11	76885961	76885961	NM_000260.3:c.2094+1G>C		NC_000011.9:g.76885961G>A,NC_000011.9:g.76885961G>C	-	C1568247 276900 Usher syndrome, type 1
NM_000260.3(MYO7A):c.2115C>A (p.Cys705Ter)	4647	MYO7A	Pathogenic	782255281	RCV000220369;	N	MedGen:C1568247,OMIM:276900	11	76886438	76886438	NM_000260.3:c.2115C>A	NP_000251.3:p.Cys705Ter	NC_000011.9:g.76886438C>A	-	C1568247 276900 Usher syndrome, type 1
NM_000260.3(MYO7A):c.2172delC (p.Lys725Argfs)	4647	MYO7A	Pathogenic	397516294	RCV000036078;	N	MedGen:C1568247,OMIM:276900	11	76886495	76886495	NM_000260.3:c.2172delC	NP_000251.3:p.Lys725Argfs	NC_000011.9:g.76886495delC	-	C1568247 276900 Usher syndrome, type 1
NM_000260.3(MYO7A):c.2187+1G>A	4647	MYO7A	Likely pathogenic	111033290	RCV000036079;	N	MedGen:C1568247,OMIM:276900	11	76886511	76886511	NM_000260.3:c.2187+1G>A		NC_000011.9:g.76886511G>A	-	C1568247 276900 Usher syndrome, type 1
NM_000260.3(MYO7A):c.2283-1G>T	4647	MYO7A	Pathogenic	397516295	RCV000036082;	N	MedGen:C1568247,OMIM:276900	11	76890090	76890090	NM_000260.3:c.2283-1G>T		NC_000011.9:g.76890090G>T	-	C1568247 276900 Usher syndrome, type 1
NM_000260.3(MYO7A):c.2311G>T (p.Ala771Ser)	4647	MYO7A	Pathogenic	782384464	RCV000216077;	N	MedGen:C1568247,OMIM:276900	11	76890119	76890119	NM_000260.3:c.2311G>T	NP_000251.3:p.Ala771Ser	NC_000011.9:g.76890119G>T	-	C1568247 276900 Usher syndrome, type 1
NM_000260.3(MYO7A):c.2863G>A (p.Gly955Ser)	4647	MYO7A	Likely pathogenic	781988557	RCV000154343;	N	MedGen:C1568247,OMIM:276900	11	76892594	76892594	NM_000260.3:c.2863G>A	NP_000251.3:p.Gly955Ser	NC_000011.9:g.76892594G>A	-	C1568247 276900 Usher syndrome, type 1
NM_000260.3(MYO7A):c.2904G>T (p.Glu968Asp)	4647	MYO7A	Pathogenic	111033233	RCV000036100;	N	MedGen:C1568247,OMIM:276900	11	76892635	76892635	NM_000260.3:c.2904G>T	NP_000251.3:p.Glu968Asp	NC_000011.9:g.76892635G>T	-	C1568247 276900 Usher syndrome, type 1
NM_000260.3(MYO7A):c.2904G>A (p.Glu968=)	4647	MYO7A	Likely pathogenic	111033233	RCV000215887;	N	MedGen:C1568247,OMIM:276900	11	76892635	76892635	NM_000260.3:c.2904G>A	NP_000251.3:p.Glu968=		-	C1568247 276900 Usher syndrome, type 1
NM_000260.3(MYO7A):c.3260T>C (p.Leu1087Pro)	4647	MYO7A	Uncertain significance	375050157	RCV000012637;	N	MedGen:C1568247,OMIM:276900	11	76893620	76893620	NM_000260.3:c.3260T>C	NP_000251.3:p.Leu1087Pro	NC_000011.9:g.76893620T>C	OMIM Allelic Variant:276903.0014	C1568247 276900 Usher syndrome, type 1
NM_000260.3(MYO7A):c.3327delC (p.His1109Glnfs)	4647	MYO7A	Pathogenic	111033433	RCV000036106;	N	MedGen:C1568247,OMIM:276900	11	76894154	76894154	NM_000260.3:c.3327delC	NP_000251.3:p.His1109Glnfs	NC_000011.9:g.76894154delC	-	C1568247 276900 Usher syndrome, type 1
NM_000260.3(MYO7A):c.3476G>T (p.Gly1159Val)	4647	MYO7A	Likely pathogenic	199897298	RCV000036110;	N	MedGen:C1568247,OMIM:276900	11	76895733	76895733	NM_000260.3:c.3476G>T	NP_000251.3:p.Gly1159Val	NC_000011.9:g.76895733G>T	-	C1568247 276900 Usher syndrome, type 1
NM_000260.3(MYO7A):c.3508G>A (p.Glu1170Lys)	4647	MYO7A	Pathogenic	111033214	RCV000036112;	N	MedGen:C1568247,OMIM:276900	11	76900393	76900393	NM_000260.3:c.3508G>A	NP_000251.3:p.Glu1170Lys	NC_000011.9:g.76900393G>A	-	C1568247 276900 Usher syndrome, type 1
NM_000260.3(MYO7A):c.3532delC (p.Gln1178Serfs)	4647	MYO7A	Likely pathogenic	111033239	RCV000036113;	N	MedGen:C1568247,OMIM:276900	11	76900417	76900417	NM_000260.3:c.3532delC	NP_000251.3:p.Gln1178Serfs	NC_000011.9:g.76900417delC	-	C1568247 276900 Usher syndrome, type 1
NM_000260.3(MYO7A):c.3533A>C (p.Gln1178Pro)	4647	MYO7A	Likely pathogenic	111033482	RCV000036114;	N	MedGen:C1568247,OMIM:276900	11	76900418	76900418	NM_000260.3:c.3533A>C	NP_000251.3:p.Gln1178Pro	NC_000011.9:g.76900418A>C	-	C1568247 276900 Usher syndrome, type 1
NM_000260.3(MYO7A):c.3543_3544dupCA (p.Asn1182Thrfs)	4647	MYO7A	Likely pathogenic	111033390	RCV000036115;	N	MedGen:C1568247,OMIM:276900	11	76900428	76900429	NM_000260.3:c.3543_3544dupCA	NP_000251.3:p.Asn1182Thrfs	NC_000011.9:g.76900428_76900429dupCA	-	C1568247 276900 Usher syndrome, type 1
NM_000260.3(MYO7A):c.3564_3571delTGCCCGGGinsA (p.Tyr1188Terfs)	4647	MYO7A	Pathogenic	797044513	RCV000155845;	N	MedGen:C1568247,OMIM:276900	11	76900449	76900456	NM_000260.3:c.3564_3571delTGCCCGGGinsA	NP_000251.3:p.Tyr1188Terfs	NC_000011.9:g.76900449_76900456delinsA	-	C1568247 276900 Usher syndrome, type 1
NM_000260.3(MYO7A):c.3572G>A (p.Gly1191Asp)	4647	MYO7A	Likely pathogenic	397516301	RCV000036116;	N	MedGen:C1568247,OMIM:276900	11	76900457	76900457	NM_000260.3:c.3572G>A	NP_000251.3:p.Gly1191Asp	NC_000011.9:g.76900457G>A	-	C1568247 276900 Usher syndrome, type 1
NM_000260.3(MYO7A):c.3591_3592delCT (p.Cys1198Argfs)	4647	MYO7A	Pathogenic	-1	RCV000222358;	N	MedGen:C1568247,OMIM:276900	11	76900476	76900477	NM_000260.3:c.3591_3592delCT	NP_000251.3:p.Cys1198Argfs		-	C1568247 276900 Usher syndrome, type 1
NM_000260.3(MYO7A):c.3696_3706delAAGGACCTTTG (p.Arg1232Serfs)	4647	MYO7A	Pathogenic	397516303	RCV000036121;	N	MedGen:C1568247,OMIM:276900	11	76901130	76901140	NM_000260.3:c.3696_3706delAAGGACCTTTG	NP_000251.3:p.Arg1232Serfs	NC_000011.9:g.76901130_76901140delAAGGACCTTTG	-	C1568247 276900 Usher syndrome, type 1
NM_000260.3(MYO7A):c.3719G>A (p.Arg1240Gln)	4647	MYO7A	Pathogenic	111033178	RCV000036122;	N	MedGen:C1568247,OMIM:276900	11	76901153	76901153	NM_000260.3:c.3719G>A	NP_000251.3:p.Arg1240Gln	NC_000011.9:g.76901153G>A	-	C1568247 276900 Usher syndrome, type 1
NM_000260.3(MYO7A):c.3728dupC (p.Pro1244Alafs)	4647	MYO7A	Pathogenic	397516304	RCV000036123;	N	MedGen:C1568247,OMIM:276900	11	76901162	76901162	NM_000260.3:c.3728dupC	NP_000251.3:p.Pro1244Alafs	NC_000011.9:g.76901162dupC	-	C1568247 276900 Usher syndrome, type 1
NM_000260.3(MYO7A):c.3764delA (p.Lys1255Argfs)	4647	MYO7A	Pathogenic	111033347	RCV000036127;	N	MedGen:C1568247,OMIM:276900	11	76901755	76901755	NM_000260.3:c.3764delA	NP_000251.3:p.Lys1255Argfs	NC_000011.9:g.76901755delA	-	C1568247 276900 Usher syndrome, type 1
NM_000260.3(MYO7A):c.3827C>T (p.Ser1276Leu)	4647	MYO7A	Likely pathogenic	369458838	RCV000155024;	N	MedGen:C1568247,OMIM:276900	11	76901818	76901818	NM_000260.3:c.3827C>T	NP_000251.3:p.Ser1276Leu	NC_000011.9:g.76901818C>T	-	C1568247 276900 Usher syndrome, type 1
NM_000260.3(MYO7A):c.3892G>A (p.Gly1298Arg)	4647	MYO7A	Likely pathogenic	727503329	RCV000151505;	N	MedGen:C1568247,OMIM:276900	11	76901883	76901883	NM_000260.3:c.3892G>A	NP_000251.3:p.Gly1298Arg	NC_000011.9:g.76901883G>A	-	C1568247 276900 Usher syndrome, type 1
NM_000260.3(MYO7A):c.4065delC (p.His1355Glnfs)	4647	MYO7A	Likely pathogenic	111033202	RCV000036136;	N	MedGen:C1568247,OMIM:276900	11	76903236	76903236	NM_000260.3:c.4065delC	NP_000251.3:p.His1355Glnfs	NC_000011.9:g.76903236delC	-	C1568247 276900 Usher syndrome, type 1
NM_000260.3(MYO7A):c.4115T>G (p.Val1372Gly)	4647	MYO7A	Likely pathogenic	869312181	RCV000210299;	N	MedGen:C1568247,OMIM:276900	11	76903286	76903286	NM_000260.3:c.4115T>G	NP_000251.3:p.Val1372Gly	NC_000011.9:g.76903286T>G	-	C1568247 276900 Usher syndrome, type 1
NM_000260.3(MYO7A):c.4293G>A (p.Trp1431Ter)	4647	MYO7A	Pathogenic	397516308	RCV000036140;	N	MedGen:C1568247,OMIM:276900	11	76905539	76905539	NM_000260.3:c.4293G>A	NP_000251.3:p.Trp1431Ter	NC_000011.9:g.76905539G>A	-	C1568247 276900 Usher syndrome, type 1
NM_000260.3(MYO7A):c.4411T>C (p.Ser1471Pro)	4647	MYO7A	Likely pathogenic	397516310	RCV000036143;	N	MedGen:C1568247,OMIM:276900	11	76908613	76908613	NM_000260.3:c.4411T>C	NP_000251.3:p.Ser1471Pro	NC_000011.9:g.76908613T>C	-	C1568247 276900 Usher syndrome, type 1
NM_000260.3(MYO7A):c.4442-2A>C	4647	MYO7A	Likely pathogenic	111033337	RCV000036144;	N	MedGen:C1568247,OMIM:276900	11	76909538	76909538	NM_000260.3:c.4442-2A>C		NC_000011.9:g.76909538A>C	-	C1568247 276900 Usher syndrome, type 1
NM_000260.3(MYO7A):c.4544_4551delAGATCATGinsCA (p.Glu1515_Met1517delinsAla)	4647	MYO7A	Pathogenic	111033259	RCV000036150;	N	MedGen:C1568247,OMIM:276900	11	76909642	76909649	NM_000260.3:c.4544_4551delAGATCATGinsCA	NP_000251.3:p.Glu1515_Met1517delinsAla	NC_000011.9:g.76909642_76909649delAGATCATGinsCA	-	C1568247 276900 Usher syndrome, type 1
NM_000260.3(MYO7A):c.4555delG (p.Val1519Cysfs)	4647	MYO7A	Pathogenic	-1	RCV000216749;	N	MedGen:C1568247,OMIM:276900	11	76909653	76909653	NM_000260.3:c.4555delG	NP_000251.3:p.Val1519Cysfs		-	C1568247 276900 Usher syndrome, type 1
NM_000260.3(MYO7A):c.4805G>A (p.Arg1602Gln)	4647	MYO7A	Likely benign;Pathogenic	139889944	RCV000223626; RCV000132572; RCV000036165;	N	MedGen:C1568247,OMIM:276900; MedGen:CN169374; MedGen:CN221809	11	76910816	76910816	NM_000260.3:c.4805G>A	NP_000251.3:p.Arg1602Gln	NC_000011.9:g.76910816G>A	-	CN221809 not provided; CN169374 not specified; C1568247 276900 Usher syndrome, type 1
NM_000260.3(MYO7A):c.4821T>A (p.Tyr1607Ter)	4647	MYO7A	Pathogenic	397516315	RCV000036166;	N	MedGen:C1568247,OMIM:276900	11	76910832	76910832	NM_000260.3:c.4821T>A	NP_000251.3:p.Tyr1607Ter	NC_000011.9:g.76910832T>A	-	C1568247 276900 Usher syndrome, type 1
NM_000260.3(MYO7A):c.5101C>T (p.Arg1701Ter)	4647	MYO7A	Pathogenic	111033182	RCV000036175;	N	MedGen:C1568247,OMIM:276900	11	76913402	76913402	NM_000260.3:c.5101C>T	NP_000251.3:p.Arg1701Ter	NC_000011.9:g.76913402C>T	-	C1568247 276900 Usher syndrome, type 1
NM_000260.3(MYO7A):c.5208dupC (p.Lys1737Glnfs)	4647	MYO7A	Likely pathogenic	111033276	RCV000036180;	N	MedGen:C1568247,OMIM:276900	11	76914144	76914144	NM_000260.3:c.5208dupC	NP_000251.3:p.Lys1737Glnfs	NC_000011.9:g.76914144dupC	-	C1568247 276900 Usher syndrome, type 1
NM_000260.3(MYO7A):c.5327-11A>G	4647	MYO7A	Likely pathogenic	397516316	RCV000036185;	N	MedGen:C1568247,OMIM:276900	11	76915110	76915110	NM_000260.3:c.5327-11A>G		NC_000011.9:g.76915110A>G	-	C1568247 276900 Usher syndrome, type 1
NM_000260.3(MYO7A):c.5392C>T (p.Gln1798Ter)	4647	MYO7A	Pathogenic	397516317	RCV000036187;	N	MedGen:C1568247,OMIM:276900	11	76915186	76915186	NM_000260.3:c.5392C>T	NP_000251.3:p.Gln1798Ter	NC_000011.9:g.76915186C>T	-	C1568247 276900 Usher syndrome, type 1
NM_000260.3(MYO7A):c.5464A>C (p.Thr1822Pro)	4647	MYO7A	Likely pathogenic	727504541	RCV000155694;	N	MedGen:C1568247,OMIM:276900	11	76915258	76915258	NM_000260.3:c.5464A>C	NP_000251.3:p.Thr1822Pro	NC_000011.9:g.76915258A>C	-	C1568247 276900 Usher syndrome, type 1
NM_000260.3(MYO7A):c.5573T>C (p.Leu1858Pro)	4647	MYO7A	Pathogenic	368657015	RCV000036193;	N	MedGen:C1568247,OMIM:276900	11	76916599	76916599	NM_000260.3:c.5573T>C	NP_000251.3:p.Leu1858Pro	NC_000011.9:g.76916599T>C	-	C1568247 276900 Usher syndrome, type 1
NM_000260.3(MYO7A):c.5581dupC (p.Arg1861Profs)	4647	MYO7A	Pathogenic	397516320	RCV000036194;	N	MedGen:C1568247,OMIM:276900	11	76916607	76916607	NM_000260.3:c.5581dupC	NP_000251.3:p.Arg1861Profs	NC_000011.9:g.76916607dupC	-	C1568247 276900 Usher syndrome, type 1
NM_000260.3(MYO7A):c.5617C>T (p.Arg1873Trp)	4647	MYO7A	Pathogenic	397516321	RCV000036196;	N	MedGen:C1568247,OMIM:276900	11	76916643	76916643	NM_000260.3:c.5617C>T	NP_000251.3:p.Arg1873Trp	NC_000011.9:g.76916643C>T	-	C1568247 276900 Usher syndrome, type 1
NM_000260.3(MYO7A):c.5618G>A (p.Arg1873Gln)	4647	MYO7A	Likely pathogenic	397516322	RCV000036197;	N	MedGen:C1568247,OMIM:276900	11	76916644	76916644	NM_000260.3:c.5618G>A	NP_000251.3:p.Arg1873Gln	NC_000011.9:g.76916644G>A	-	C1568247 276900 Usher syndrome, type 1
NM_000260.3(MYO7A):c.5648G>A (p.Arg1883Gln)	4647	MYO7A	Pathogenic	111033215	RCV000036199;	N	MedGen:C1568247,OMIM:276900	11	76917153	76917153	NM_000260.3:c.5648G>A	NP_000251.3:p.Arg1883Gln	NC_000011.9:g.76917153G>A	-	C1568247 276900 Usher syndrome, type 1
NM_000260.3(MYO7A):c.5660C>T (p.Pro1887Leu)	4647	MYO7A	Pathogenic	199606180	RCV000036200;	N	MedGen:C1568247,OMIM:276900	11	76917165	76917165	NM_000260.3:c.5660C>T	NP_000251.3:p.Pro1887Leu	NC_000011.9:g.76917165C>T	-	C1568247 276900 Usher syndrome, type 1
NM_000260.3(MYO7A):c.5804T>C (p.Leu1935Pro)	4647	MYO7A	Likely pathogenic	397516323	RCV000036203;	N	MedGen:C1568247,OMIM:276900	11	76918395	76918395	NM_000260.3:c.5804T>C	NP_000251.3:p.Leu1935Pro	NC_000011.9:g.76918395T>C	-	C1568247 276900 Usher syndrome, type 1
NM_000260.3(MYO7A):c.5824G>T (p.Gly1942Ter)	4647	MYO7A	Pathogenic	111033192	RCV000036205;	N	MedGen:C1568247,OMIM:276900	11	76918415	76918415	NM_000260.3:c.5824G>T	NP_000251.3:p.Gly1942Ter	NC_000011.9:g.76918415G>A,NC_000011.9:g.76918415G>T	-	C1568247 276900 Usher syndrome, type 1
NM_000260.3(MYO7A):c.5886_5888delCTT (p.Phe1963del)	4647	MYO7A	Pathogenic	111033232	RCV000036213;	N	MedGen:C1568247,OMIM:276900	11	76919504	76919506	NM_000260.3:c.5886_5888delCTT	NP_000251.3:p.Phe1963del	NC_000011.9:g.76919504_76919506delCTT	-	C1568247 276900 Usher syndrome, type 1
NM_000260.3(MYO7A):c.5899C>T (p.Arg1967Ter)	4647	MYO7A	Pathogenic	376764423	RCV000155243;	N	MedGen:C1568247,OMIM:276900	11	76919517	76919517	NM_000260.3:c.5899C>T	NP_000251.3:p.Arg1967Ter	NC_000011.9:g.76919517C>T	-	C1568247 276900 Usher syndrome, type 1
NM_000260.3(MYO7A):c.5945G>A (p.Gly1982Glu)	4647	MYO7A	Likely pathogenic	111033250	RCV000036215;	N	MedGen:C1568247,OMIM:276900	11	76919742	76919742	NM_000260.3:c.5945G>A	NP_000251.3:p.Gly1982Glu	NC_000011.9:g.76919742G>A	-	C1568247 276900 Usher syndrome, type 1
NM_000260.3(MYO7A):c.5968C>T (p.Gln1990Ter)	4647	MYO7A	Pathogenic	773844428	RCV000178544;	N	MedGen:C1568247,OMIM:276900	11	76919765	76919765	NM_000260.3:c.5968C>T	NP_000251.3:p.Gln1990Ter	NC_000011.9:g.76919765C>T	-	C1568247 276900 Usher syndrome, type 1
NM_000260.3(MYO7A):c.6025delG (p.Ala2009Profs)	4647	MYO7A	Pathogenic	397516326	RCV000036218;	N	MedGen:C1568247,OMIM:276900	11	76919822	76919822	NM_000260.3:c.6025delG	NP_000251.3:p.Ala2009Profs	NC_000011.9:g.76919822delG	-	C1568247 276900 Usher syndrome, type 1
NM_000260.3(MYO7A):c.6029A>G (p.Asp2010Gly)	4647	MYO7A	Pathogenic	111033175	RCV000036219;	N	MedGen:C1568247,OMIM:276900	11	76919826	76919826	NM_000260.3:c.6029A>G	NP_000251.3:p.Asp2010Gly	NC_000011.9:g.76919826A>G	-	C1568247 276900 Usher syndrome, type 1
NM_000260.3(MYO7A):c.6062A>G (p.Lys2021Arg)	4647	MYO7A	Likely pathogenic	-1	RCV000223094;	N	MedGen:C1568247,OMIM:276900	11	76922207	76922207	NM_000260.3:c.6062A>G	NP_000251.3:p.Lys2021Arg		-	C1568247 276900 Usher syndrome, type 1
NM_000260.3(MYO7A):c.6070C>T (p.Arg2024Ter)	4647	MYO7A	Pathogenic	111033198	RCV000036223;	N	MedGen:C1568247,OMIM:276900	11	76922215	76922215	NM_000260.3:c.6070C>T	NP_000251.3:p.Arg2024Ter	NC_000011.9:g.76922215C>T	-	C1568247 276900 Usher syndrome, type 1
NM_000260.3(MYO7A):c.6231dupG (p.Lys2078Glufs)	4647	MYO7A	Pathogenic	730880367	RCV000156543;	N	MedGen:C1568247,OMIM:276900	11	76922376	76922376	NM_000260.3:c.6231dupG	NP_000251.3:p.Lys2078Glufs	NC_000011.9:g.76922376dupG	-	C1568247 276900 Usher syndrome, type 1
NM_000260.3(MYO7A):c.6326C>T (p.Thr2109Ile)	4647	MYO7A	Likely pathogenic	377670513	RCV000151522;	N	MedGen:C1568247,OMIM:276900	11	76922954	76922954	NM_000260.3:c.6326C>T	NP_000251.3:p.Thr2109Ile	NC_000011.9:g.76922954C>T	-	C1568247 276900 Usher syndrome, type 1
NC_000011.10:g.(?_77212952)_(77214696_?)del	4647	MYO7A	Pathogenic	-1	RCV000156116;	N	MedGen:C1568247,OMIM:276900	11	76923997	76925741	-	-		-	C1568247 276900 Usher syndrome, type 1
NM_000260.3(MYO7A):c.6439-2A>G	4647	MYO7A	Pathogenic	397516330	RCV000036235;	N	MedGen:C1568247,OMIM:276900	11	76924903	76924903	NM_000260.3:c.6439-2A>G		NC_000011.9:g.76924903A>G	-	C1568247 276900 Usher syndrome, type 1
NM_000260.3(MYO7A):c.6498C>A (p.Tyr2166Ter)	4647	MYO7A	Pathogenic	397516331	RCV000036236;	N	MedGen:C1568247,OMIM:276900	11	76924964	76924964	NM_000260.3:c.6498C>A	NP_000251.3:p.Tyr2166Ter	NC_000011.9:g.76924964C>A	-	C1568247 276900 Usher syndrome, type 1
NM_000260.3(MYO7A):c.6557T>C (p.Leu2186Pro)	4647	MYO7A	Likely pathogenic	-1	RCV000220295;	N	MedGen:C1568247,OMIM:276900	11	76925023	76925023	NM_000260.3:c.6557T>C	NP_000251.3:p.Leu2186Pro		-	C1568247 276900 Usher syndrome, type 1
NM_000260.3(MYO7A):c.6560G>A (p.Gly2187Asp)	4647	MYO7A	Likely pathogenic	397516332	RCV000036241;	N	MedGen:C1568247,OMIM:276900	11	76925653	76925653	NM_000260.3:c.6560G>A	NP_000251.3:p.Gly2187Asp	NC_000011.9:g.76925653G>A	-	C1568247 276900 Usher syndrome, type 1
NM_000260.3(MYO7A):c.6614_6634dup21 (p.Ser2211_Arg2212insMetSerLysGlnArgGlySer)	4647	MYO7A	Likely pathogenic	111033388	RCV000154448;	N	MedGen:C1568247,OMIM:276900	11	76925707	76925727	NM_000260.3:c.6614_6634dup21	NP_000251.3:p.Ser2211_Arg2212insMetSerLysGlnArgGlySer	NC_000011.9:g.76925707_76925727dup21	-	C1568247 276900 Usher syndrome, type 1
NM_033056.3(PCDH15):c.5601_5603delAAC (p.Thr1869del)	65217	PCDH15	Benign;Pathogenic	113363047	RCV000215699; RCV000039764;	N	MedGen:C1568247,OMIM:276900; MedGen:CN169374	10	55581883	55581885	NM_033056.3:c.5601_5603delAAC	NP_149045.3:p.Thr1869del	NC_000010.10:g.55581883_55581885delGTT	HGMD:CD050016	CN169374 not specified; C1568247 276900 Usher syndrome, type 1
NM_033056.3(PCDH15):c.733C>T (p.Arg245Ter)	65217	PCDH15	Pathogenic	111033260	RCV000055970; RCV000005218; RCV000218809;	Y	MedGen:C1568247,OMIM:276900; MedGen:C1847089,OMIM:606943; MedGen:C1865885,OMIM:602083	10	56077174	56077174	NM_033056.3:c.733C>T	NP_149045.3:p.Arg245Ter	NC_000010.10:g.56077174G>A	OMIM Allelic Variant:605514.0004	C1568247 276900 Usher syndrome, type 1; C1865885 602083 Usher syndrome, type 1F; C1847089 606943 Usher syndrome, type 1G
NG_009191.2:g.427349G>A	65217	PCDH15	Pathogenic	-1	RCV000222386;	N	MedGen:C1568247,OMIM:276900	10	56138703	56138703	NM_033056.3:c.158-1G>A			-	C1568247 276900 Usher syndrome, type 1
NM_033056.3(PCDH15):c.16delT (p.Tyr6Ilefs)	65217	PCDH15	Pathogenic	397517451	RCV000039705; RCV000219366;	N	MedGen:C1568247,OMIM:276900; MedGen:C1865885,OMIM:602083	10	56424007	56424007	NM_033056.3:c.16delT	NP_149045.3:p.Tyr6Ilefs	NC_000010.10:g.56424007delA	-	C1568247 276900 Usher syndrome, type 1; C1865885 602083 Usher syndrome, type 1F
NM_005709.3(USH1C):c.496+59_496+103[9]	10083	USH1C	Benign;Pathogenic	387906330	RCV000005449; RCV000218261;	N	MedGen:C1568247,OMIM:276900; MedGen:C1848604,OMIM:276904	11	17548667	17548711	NM_005709.3:c.496+59_496+103[9]			OMIM Allelic Variant:605242.0003	C1568247 276900 Usher syndrome, type 1; C1848604 276904 Usher syndrome, type 1C
NM_005709.3(USH1C):c.238dupC (p.Arg80Profs)	10083	USH1C	Pathogenic	397515359	RCV000005448; RCV000213574;	N	MedGen:C1568247,OMIM:276900; MedGen:C1848604,OMIM:276904	11	17552956	17552956	NM_005709.3:c.238dupC	NP_005700.2:p.Arg80Profs	NC_000011.9:g.17552956dupG	OMIM Allelic Variant:605242.0002	C1568247 276900 Usher syndrome, type 1; C1848604 276904 Usher syndrome, type 1C
NM_005709.3(USH1C):c.216G>A (p.Val72=)	10083	USH1C	Pathogenic	151045328	RCV000005450; RCV000220605;	Y	MedGen:C1568247,OMIM:276900; MedGen:C1848604,OMIM:276904	11	17552978	17552978	NM_005709.3:c.216G>A	NP_005700.2:p.Val72=	NC_000011.9:g.17552978C>T	OMIM Allelic Variant:605242.0004	C1568247 276900 Usher syndrome, type 1; C1848604 276904 Usher syndrome, type 1C
NM_173477.4(USH1G):c.832_851del20 (p.Ser278Profs)	124590	USH1G	Pathogenic	397515345	RCV000003050; RCV000216021;	N	MedGen:C1568247,OMIM:276900; MedGen:C1847089,OMIM:606943	17	72916080	72916099	NM_173477.4:c.832_851del20	NP_775748.2:p.Ser278Profs	NC_000017.10:g.72916080_72916099del20	OMIM Allelic Variant:607696.0003	C1568247 276900 Usher syndrome, type 1; C1847089 606943 Usher syndrome, type 1G
NM_173477.4(USH1G):c.394dupG (p.Val132Glyfs)	124590	USH1G	Pathogenic	-1	RCV000003051; RCV000222936;	N	MedGen:C1568247,OMIM:276900; MedGen:C1847089,OMIM:606943	17	72916537	72916537	NM_173477.4:c.394dupG	NP_775748.2:p.Val132Glyfs		OMIM Allelic Variant:607696.0004	C1568247 276900 Usher syndrome, type 1; C1847089 606943 Usher syndrome, type 1G