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Hello! Guest! Please Login or Register! Clinician Mode

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 2C (C536492)
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:

11451

Name:

Usher syndrome, type 2C

Definition:

Alternative IDs:

OMIM:605472

ParentIDs:

MESH:D052245

TreeNumbers:

C09.218.458.341.186.500.500/C536492 |C09.218.458.341.887.886/C536492 |C10.597.751.418.341.186.500.500/C536492 |C10.597.751.418.341.887.886/C536492 |C10.597.751.941.162.625.500/C536492 |C11.768.585.658.500.813/C536492 |C11.966.075.375.500/C536492 |C16.131.077.29

Synonyms:

USH2C |USHER SYNDROME, TYPE IIB, FORMERLY, INCLUDED;USH2B, FORMERLY, INCLUDED |Usher Syndrome, Type IIC |USHER SYNDROME, TYPE IIC, GPR98/PDZD7, DIGENIC, INCLUDED

Slim Mappings:

Reference:

MedGen: C536492
MeSH: C536492
OMIM: 605472;

Genes: ADGRV1; PDZD7;

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_032119.3(ADGRV1):c.1239-8C>G	84059	ADGRV1	Likely pathogenic	869312178	RCV000210295;	N	MedGen:C1854237,OMIM:605472	5	89924371	89924371	NM_032119.3:c.1239-8C>G		NC_000005.9:g.89924371C>G	-	C1854237 605472 Usher syndrome, type 2C
NM_032119.3(ADGRV1):c.1701delC (p.Leu568Cysfs)	84059	ADGRV1	Pathogenic	-1	RCV000221685;	N	MedGen:C1854237,OMIM:605472	5	89925218	89925218	NM_032119.3:c.1701delC	NP_115495.3:p.Leu568Cysfs		-	C1854237 605472 Usher syndrome, type 2C
NM_032119.3(ADGRV1):c.2258_2270delAAGTGCTGAAATC (p.Gln753Leufs)	84059	ADGRV1	Pathogenic	796051866	RCV000007206;	N	MedGen:C1854237,OMIM:605472	5	89938470	89938482	NM_032119.3:c.2258_2270delAAGTGCTGAAATC	NP_115495.3:p.Gln753Leufs	NC_000005.9:g.89938470_89938482delAAGTGCTGAAATC	OMIM Allelic Variant:602851.0008	C1854237 605472 Usher syndrome, type 2C
NM_032119.3(ADGRV1):c.2398C>T (p.Arg800Ter)	84059	ADGRV1	Pathogenic	373780305	RCV000039562;	N	MedGen:C1854237,OMIM:605472	5	89938703	89938703	NM_032119.3:c.2398C>T	NP_115495.3:p.Arg800Ter	NC_000005.9:g.89938703C>T	-	C1854237 605472 Usher syndrome, type 2C
NM_032119.3(ADGRV1):c.2870dupA (p.Asn957Lysfs)	84059	ADGRV1	Pathogenic	397517429	RCV000039565;	N	MedGen:C1854237,OMIM:605472	5	89940658	89940658	NM_032119.3:c.2870dupA	NP_115495.3:p.Asn957Lysfs	NC_000005.9:g.89940658dupA	-	C1854237 605472 Usher syndrome, type 2C
NM_032119.3(ADGRV1):c.(?_4379)_(4752_?)del (p.(?))	84059	ADGRV1	Pathogenic	-1	RCV000156303;	N	MedGen:C1854237,OMIM:605472	5	89953722	89954095	NM_032119.3:c.(?_4379)_(4752_?)del	NP_115495.3:p.(?)		-	C1854237 605472 Usher syndrome, type 2C
NM_032119.3(ADGRV1):c.4702delA (p.Ser1568Valfs)	84059	ADGRV1	Pathogenic	794727347	RCV000176234;	N	MedGen:C1854237,OMIM:605472	5	89954045	89954045	NM_032119.3:c.4702delA	NP_115495.3:p.Ser1568Valfs	NC_000005.9:g.89954045delA	-	C1854237 605472 Usher syndrome, type 2C
NM_032119.3(ADGRV1):c.5357_5358delAA (p.Lys1786Ilefs)	84059	ADGRV1	Pathogenic	796051867	RCV000007207;	N	MedGen:C1854237,OMIM:605472	5	89971940	89971941	NM_032119.3:c.5357_5358delAA	NP_115495.3:p.Lys1786Ilefs	NC_000005.9:g.89971940_89971941delAA	OMIM Allelic Variant:602851.0009	C1854237 605472 Usher syndrome, type 2C
NM_032119.3(ADGRV1):c.5643delG (p.Tyr1882Ilefs)	84059	ADGRV1	Pathogenic	727503076	RCV000150761;	N	MedGen:C1854237,OMIM:605472	5	89977250	89977250	NM_032119.3:c.5643delG	NP_115495.3:p.Tyr1882Ilefs	NC_000005.9:g.89977250delG	-	C1854237 605472 Usher syndrome, type 2C
NM_032119.3(ADGRV1):c.5779_5783dupACGAG (p.Ser1928Argfs)	84059	ADGRV1	Pathogenic	730880369	RCV000156744;	N	MedGen:C1854237,OMIM:605472	5	89979517	89979521	NM_032119.3:c.5779_5783dupACGAG	NP_115495.3:p.Ser1928Argfs	NC_000005.9:g.89979517_89979521dupACGAG	-	C1854237 605472 Usher syndrome, type 2C
NM_032119.3(ADGRV1):c.6901C>T (p.Gln2301Ter)	84059	ADGRV1	Pathogenic	121909762	RCV000007200;	N	MedGen:C1854237,OMIM:605472	5	89986808	89986808	NM_032119.3:c.6901C>T	NP_115495.3:p.Gln2301Ter	NC_000005.9:g.89986808C>T	OMIM Allelic Variant:602851.0002	C1854237 605472 Usher syndrome, type 2C
NM_032119.3(ADGRV1):c.7006C>T (p.Arg2336Ter)	84059	ADGRV1	Likely pathogenic	527236133	RCV000132687;	N	MedGen:C1854237,OMIM:605472	5	89988476	89988476	NM_032119.3:c.7006C>T	NP_115495.3:p.Arg2336Ter	NC_000005.9:g.89988476C>T	-	C1854237 605472 Usher syndrome, type 2C
NM_032119.3(ADGRV1):c.7129C>T (p.Arg2377Ter)	84059	ADGRV1	Pathogenic	758718347	RCV000214702;	N	MedGen:C1854237,OMIM:605472	5	89988599	89988599	NM_032119.3:c.7129C>T	NP_115495.3:p.Arg2377Ter	NC_000005.9:g.89988599C>T	-	C1854237 605472 Usher syndrome, type 2C
NM_032119.3(ADGRV1):c.7374_7375delTG (p.Glu2459Glyfs)	84059	ADGRV1	Pathogenic	397517435	RCV000039626;	N	MedGen:C1854237,OMIM:605472	5	89989947	89989948	NM_032119.3:c.7374_7375delTG	NP_115495.3:p.Glu2459Glyfs	NC_000005.9:g.89989947_89989948delTG	-	C1854237 605472 Usher syndrome, type 2C
NM_032119.3(ADGRV1):c.7406G>A (p.Trp2469Ter)	84059	ADGRV1	Pathogenic	397517436	RCV000039627;	N	MedGen:C1854237,OMIM:605472	5	89989979	89989979	NM_032119.3:c.7406G>A	NP_115495.3:p.Trp2469Ter	NC_000005.9:g.89989979G>A	-	C1854237 605472 Usher syndrome, type 2C
NM_032119.3(ADGRV1):c.8204delA (p.Asn2735Metfs)	84059	ADGRV1	Pathogenic	794727584	RCV000177853;	N	MedGen:C1854237,OMIM:605472	5	89999530	89999530	NM_032119.3:c.8204delA	NP_115495.3:p.Asn2735Metfs	NC_000005.9:g.89999530delA	-	C1854237 605472 Usher syndrome, type 2C
NM_032119.3(ADGRV1):c.8713_8716dupAACA (p.Ile2906Lysfs)	84059	ADGRV1	Pathogenic	796051863	RCV000007201;	N	MedGen:C1854237,OMIM:605472	5	90002194	90002197	NM_032119.3:c.8713_8716dupAACA	NP_115495.3:p.Ile2906Lysfs	NC_000005.9:g.90002194_90002197dupAACA	OMIM Allelic Variant:602851.0003	C1854237 605472 Usher syndrome, type 2C
NM_032119.3(ADGRV1):c.8737delG (p.Val2913Tyrfs)	84059	ADGRV1	Pathogenic	397517441	RCV000039655;	N	MedGen:C1854237,OMIM:605472	5	90004639	90004639	NM_032119.3:c.8737delG	NP_115495.3:p.Val2913Tyrfs	NC_000005.9:g.90004639delG	-	C1854237 605472 Usher syndrome, type 2C
NM_032119.3(ADGRV1):c.8790delC (p.Met2931Trpfs)	84059	ADGRV1	Pathogenic	796051864	RCV000007202;	N	MedGen:C1854237,OMIM:605472	5	90004692	90004692	NM_032119.3:c.8790delC	NP_115495.3:p.Met2931Trpfs	NC_000005.9:g.90004692delC	OMIM Allelic Variant:602851.0004	C1854237 605472 Usher syndrome, type 2C
NM_032119.3(ADGRV1):c.10060_10063delACAA (p.Thr3354Serfs)	84059	ADGRV1	Pathogenic	727504978	RCV000156391;	N	MedGen:C1854237,OMIM:605472	5	90021372	90021375	NM_032119.3:c.10060_10063delACAA	NP_115495.3:p.Thr3354Serfs	NC_000005.9:g.90021372_90021375delACAA	-	C1854237 605472 Usher syndrome, type 2C
NM_032119.3(ADGRV1):c.10229_10231dupTGG (p.Val3410_Ala3411insVal)	84059	ADGRV1	Likely pathogenic	397517418	RCV000039501;	N	MedGen:C1854237,OMIM:605472	5	90024553	90024555	NM_032119.3:c.10229_10231dupTGG	NP_115495.3:p.Val3410_Ala3411insVal	NC_000005.9:g.90024553_90024555dupTGG	-	C1854237 605472 Usher syndrome, type 2C
NM_032119.3(ADGRV1):c.11253C>G (p.Tyr3751Ter)	84059	ADGRV1	Pathogenic	376689763	RCV000039510;	N	MedGen:C1854237,OMIM:605472	5	90049522	90049522	NM_032119.3:c.11253C>G	NP_115495.3:p.Tyr3751Ter	NC_000005.9:g.90049522C>G	-	C1854237 605472 Usher syndrome, type 2C
NM_032119.3(ADGRV1):c.12101T>G (p.Phe4034Cys)	84059	ADGRV1	Likely pathogenic	-1	RCV000221151;	N	MedGen:C1854237,OMIM:605472	5	90055386	90055386	NM_032119.3:c.12101T>G	NP_115495.3:p.Phe4034Cys		-	C1854237 605472 Usher syndrome, type 2C
NM_032119.3(ADGRV1):c.12403+1G>T	84059	ADGRV1	Likely pathogenic	527236132	RCV000132685;	N	MedGen:C1854237,OMIM:605472	5	90070121	90070121	NM_032119.3:c.12403+1G>T		NC_000005.9:g.90070121G>T	-	C1854237 605472 Usher syndrome, type 2C
NM_032119.3(ADGRV1):c.12631C>T (p.Arg4211Ter)	84059	ADGRV1	Pathogenic	727504777	RCV000156094;	N	MedGen:C1854237,OMIM:605472	5	90073825	90073825	NM_032119.3:c.12631C>T	NP_115495.3:p.Arg4211Ter	NC_000005.9:g.90073825C>T	-	C1854237 605472 Usher syndrome, type 2C
NM_032119.3(ADGRV1):c.14885G>A (p.Trp4962Ter)	84059	ADGRV1	Pathogenic	-1	RCV000217974;	N	MedGen:C1854237,OMIM:605472	5	90103467	90103467	NM_032119.3:c.14885G>A	NP_115495.3:p.Trp4962Ter		-	C1854237 605472 Usher syndrome, type 2C
NM_032119.3(ADGRV1):c.14973-2A>G	84059	ADGRV1	Pathogenic	371981035	RCV000039531;	N	MedGen:C1854237,OMIM:605472	5	90106048	90106048	NM_032119.3:c.14973-2A>G		NC_000005.9:g.90106048A>G	-	C1854237 605472 Usher syndrome, type 2C
NM_032119.3(ADGRV1):c.15736C>T (p.Arg5246Ter)	84059	ADGRV1	Likely pathogenic	527236131	RCV000132686;	N	MedGen:C1854237,OMIM:605472	5	90106813	90106813	NM_032119.3:c.15736C>T	NP_115495.3:p.Arg5246Ter	NC_000005.9:g.90106813C>T	-	C1854237 605472 Usher syndrome, type 2C
NM_032119.3(ADGRV1):c.17303_17315delGAGATTACATTCG (p.Gly5768Glufs)	84059	ADGRV1	Pathogenic	727504644	RCV000155906;	N	MedGen:C1854237,OMIM:605472	5	90149199	90149211	NM_032119.3:c.17303_17315delGAGATTACATTCG	NP_115495.3:p.Gly5768Glufs	NC_000005.9:g.90149199_90149211delGAGATTACATTCG	-	C1854237 605472 Usher syndrome, type 2C
NM_032119.3(ADGRV1):c.17662delT (p.Ser5888Hisfs)	84059	ADGRV1	Pathogenic	397517426	RCV000039548;	N	MedGen:C1854237,OMIM:605472	5	90151625	90151625	NM_032119.3:c.17662delT	NP_115495.3:p.Ser5888Hisfs	NC_000005.9:g.90151625delT	-	C1854237 605472 Usher syndrome, type 2C
NM_032119.3(ADGRV1):c.18131A>G (p.Tyr6044Cys)	84059	ADGRV1	Pathogenic	121909763	RCV000007204;	N	MedGen:C1854237,OMIM:605472	5	90281318	90281318	NM_032119.3:c.18131A>G	NP_115495.3:p.Tyr6044Cys	NC_000005.9:g.90281318A>G	OMIM Allelic Variant:602851.0006	C1854237 605472 Usher syndrome, type 2C
NM_032119.3(ADGRV1):c.(?_18153)-15_*(15_?)del	84059	ADGRV1	Pathogenic	-1	RCV000155450;	N	MedGen:C1854237,OMIM:605472	5	90368249	90459732	NM_032119.3:c.(?_18153)-15_*(15_?)del			-	C1854237 605472 Usher syndrome, type 2C
NM_032119.3(ADGRV1):c.18732_18750del19 (p.Tyr6244Terfs)	84059	ADGRV1	Pathogenic	796051865	RCV000007203;	N	MedGen:C1854237,OMIM:605472	5	90449145	90449163	NM_032119.3:c.18732_18750del19	NP_115495.3:p.Tyr6244Terfs	NC_000005.9:g.90449145_90449163del19	OMIM Allelic Variant:602851.0005	C1854237 605472 Usher syndrome, type 2C