C0271097[trait identifier] AND "NIHR Bioresource Rare Diseases, Univer - ClinVar

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Items: 83

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 48464	NM_206933.4(USH2A):c.15433G>A (p.Val5145Ile)	USH2A (V5145I)	Single nucleotide variant (missense variant)	Usher syndrome	GBenign FDA Recognized database
Select item 438068	NM_206933.4(USH2A):c.15298-1176A>G	USH2A	Single nucleotide variant (intron variant)	Retinitis pigmentosa 39	GUncertain significance
Select item 438016	NM_206933.4(USH2A):c.14426C>T (p.Thr4809Ile)	USH2A (T4809I)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +3 more	GConflicting classifications of pathogenicity
Select item 177913	NM_206933.4(USH2A):c.14276G>A (p.Gly4759Glu)	USH2A (G4759E)	Single nucleotide variant (missense variant)	Usher syndrome	GLikely benign FDA Recognized database
Select item 438015	NM_206933.4(USH2A):c.13750dup (p.Thr4584fs)	USH2A (T4584fs)	Duplication (frameshift variant)	Usher syndrome	GUncertain significance
Select item 48417	NM_206933.4(USH2A):c.13396C>T (p.Pro4466Ser)	USH2A (P4466S)	Single nucleotide variant (missense variant)	Usher syndrome	GUncertain significance FDA Recognized database
Select item 198344	NM_206933.4(USH2A):c.13316C>T (p.Thr4439Ile)	USH2A (T4439I)	Single nucleotide variant (missense variant)	Retinal dystrophy +4 more	GPathogenic/Likely pathogenic
Select item 438011	NM_206933.4(USH2A):c.13274C>T (p.Thr4425Met)	USH2A (T4425M)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +2 more	GConflicting classifications of pathogenicity
Select item 438009	NM_206933.4(USH2A):c.12954C>A (p.Tyr4318Ter)	USH2A (Y4318*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 39 +1 more	GPathogenic
Select item 438008	NM_206933.4(USH2A):c.12819T>A (p.Tyr4273Ter)	USH2A (Y4273*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 166434	NM_206933.4(USH2A):c.12575G>A (p.Arg4192His)	USH2A (R4192H)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +7 more	GConflicting classifications of pathogenicity
Select item 281818	NM_206933.4(USH2A):c.12574C>T (p.Arg4192Cys)	USH2A (R4192C)	Single nucleotide variant (missense variant)	Usher syndrome	GLikely pathogenic FDA Recognized database
Select item 166435	NM_206933.4(USH2A):c.12505A>G (p.Thr4169Ala)	USH2A (T4169A)	Single nucleotide variant (missense variant)	Usher syndrome	GLikely benign FDA Recognized database
Select item 438006	NM_206933.4(USH2A):c.12309del (p.Phe4103fs)	USH2A (F4103fs)	Deletion (frameshift variant)	Usher syndrome	GLikely pathogenic
Select item 2357	NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter)	USH2A (W3955*)	Single nucleotide variant (nonsense)	Retinal dystrophy +10 more	GPathogenic
Select item 438004	NM_206933.4(USH2A):c.11694del (p.Asn3899fs)	USH2A (N3899fs)	Deletion (frameshift variant)	Usher syndrome	GLikely pathogenic
Select item 143170	NM_206933.4(USH2A):c.11156G>A (p.Arg3719His)	USH2A (R3719H)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +4 more	GPathogenic/Likely pathogenic
Select item 48352	NM_206933.4(USH2A):c.10561T>C (p.Trp3521Arg)	USH2A (W3521R)	Single nucleotide variant (missense variant)	Retinal dystrophy +6 more	GPathogenic/Likely pathogenic
Select item 438001	NM_206933.4(USH2A):c.10559A>G (p.Asn3520Ser)	USH2A (N3520S)	Single nucleotide variant (missense variant)	Usher syndrome type 2A +2 more	GUncertain significance
Select item 438258	NM_206933.4(USH2A):c.10183-1375_10387+1389del	USH2A	Deletion (splice acceptor variant +1 more)	Usher syndrome	GLikely pathogenic
Select item 209203	NM_206933.4(USH2A):c.10342G>A (p.Glu3448Lys)	USH2A (E3448K)	Single nucleotide variant (missense variant)	Retinal dystrophy +4 more	GPathogenic/Likely pathogenic
Select item 197932	NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr)	USH2A (C3358Y)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +5 more	GPathogenic/Likely pathogenic
Select item 438037	NM_206933.4(USH2A):c.9958G>T (p.Gly3320Cys)	USH2A (G3320C)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +2 more	GPathogenic/Likely pathogenic
Select item 438035	NM_206933.4(USH2A):c.9860_9873del (p.His3287fs)	USH2A (H3287fs)	Deletion (frameshift variant)	Retinitis pigmentosa 39 +3 more	GPathogenic/Likely pathogenic
Select item 438033	NM_206933.4(USH2A):c.9571-2A>G	USH2A	Single nucleotide variant (splice acceptor variant)	Usher syndrome type 2A +4 more	GPathogenic/Likely pathogenic
Select item 48611	NM_206933.4(USH2A):c.8981G>A (p.Trp2994Ter)	USH2A (W2994*)	Single nucleotide variant (nonsense)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 48597	NM_206933.4(USH2A):c.8320G>A (p.Ala2774Thr)	USH2A (A2774T)	Single nucleotide variant (missense variant)	Usher syndrome	GLikely benign FDA Recognized database
Select item 197447	NM_206933.4(USH2A):c.7595-3C>G	USH2A	Single nucleotide variant (intron variant)	Retinitis pigmentosa 39 +3 more	GPathogenic/Likely pathogenic
Select item 30722	NM_206933.4(USH2A):c.7595-2144A>G	USH2A	Single nucleotide variant (intron variant)	Usher syndrome type 2A +6 more	GPathogenic/Likely pathogenic
Select item 48581	NM_206933.4(USH2A):c.7334C>T (p.Ser2445Phe)	USH2A (S2445F)	Single nucleotide variant (missense variant)	Usher syndrome	GBenign FDA Recognized database
Select item 166479	NM_206933.4(USH2A):c.6730G>A (p.Val2244Met)	USH2A (V2244M)	Single nucleotide variant (missense variant)	Usher syndrome	GUncertain significance FDA Recognized database
Select item 166481	NM_206933.4(USH2A):c.6590C>T (p.Thr2197Ile)	USH2A (T2197I)	Single nucleotide variant (missense variant)	Usher syndrome type 2A +3 more	GConflicting classifications of pathogenicity
Select item 224753	NM_206933.4(USH2A):c.6446C>A (p.Pro2149Gln)	USH2A (P2149Q)	Single nucleotide variant (missense variant)	Usher syndrome	GLikely pathogenic FDA Recognized database
Select item 438260	Single allele	BPNT1, C1orf115 +146 more	Deletion	Usher syndrome	GLikely pathogenic
Select item 438023	NM_206933.4(USH2A):c.5603T>G (p.Phe1868Cys)	USH2A, USH2A-AS2 (F1868C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 179773	NM_206933.4(USH2A):c.5012G>A (p.Gly1671Asp)	USH2A-AS2, USH2A (G1671D)	Single nucleotide variant (missense variant)	Retinal dystrophy	GPathogenic FDA Recognized database
Select item 48521	NM_206933.4(USH2A):c.4714C>T (p.Leu1572Phe)	USH2A (L1572F)	Single nucleotide variant (missense variant)	Usher syndrome	GLikely benign FDA Recognized database
Select item 166504	NM_007123.6(USH2A):c.4510dup (p.Arg1504fs)	USH2A (R1504fs)	Duplication	Usher syndrome	GPathogenic FDA Recognized database
Select item 438021	NM_206933.4(USH2A):c.4222C>T (p.Gln1408Ter)	USH2A, USH2A-AS1 (Q1408*)	Single nucleotide variant (nonsense)	Usher syndrome type 2A +5 more	GPathogenic
Select item 48509	NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val)	USH2A, USH2A-AS1 (G1301V)	Single nucleotide variant	Usher syndrome	GBenign FDA Recognized database
Select item 438019	NM_206933.4(USH2A):c.3831_3834delinsG (p.Leu1278del)	USH2A, USH2A-AS1 (L1278del)	Indel (inframe_deletion)	Usher syndrome	GLikely pathogenic
Select item 166511	NM_206933.4(USH2A):c.3395G>A (p.Gly1132Asp)	USH2A-AS1, USH2A (G1132D)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +3 more	GConflicting classifications of pathogenicity
Select item 48497	NM_206933.4(USH2A):c.3158-6A>G	USH2A, USH2A-AS1	Single nucleotide variant (intron variant)	Rare genetic deafness +1 more	GLikely pathogenic
Select item 438018	NM_206933.4(USH2A):c.2994A>T (p.Arg998Ser)	USH2A, USH2A-AS1 (R998S)	Single nucleotide variant (missense variant)	Usher syndrome type 2A +1 more	GUncertain significance
Select item 143179	NM_206933.4(USH2A):c.2802T>G (p.Cys934Trp)	LOC122152296, USH2A (C934W)	Single nucleotide variant (missense variant)	Usher syndrome type 2A +4 more	GConflicting classifications of pathogenicity
Select item 48487	NM_206933.4(USH2A):c.2522C>A (p.Ser841Tyr)	LOC122152296, USH2A (S841Y)	Single nucleotide variant (missense variant)	Usher syndrome	GBenign FDA Recognized database
Select item 2351	NM_206933.4(USH2A):c.2299del (p.Glu767fs)	USH2A (E767fs)	Deletion (frameshift variant)	Retinal dystrophy +22 more	GPathogenic
Select item 2356	NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe)	USH2A (C759F)	Single nucleotide variant (missense variant)	Usher syndrome	GPathogenic FDA Recognized database
Select item 418533	NM_206933.4(USH2A):c.2081G>A (p.Cys694Tyr)	USH2A (C694Y)	Single nucleotide variant (missense variant)	Usher syndrome	GLikely pathogenic FDA Recognized database
Select item 48481	NM_206933.4(USH2A):c.1966G>A (p.Asp656Asn)	USH2A (D656N)	Single nucleotide variant (missense variant)	Usher syndrome	GLikely benign FDA Recognized database
Select item 2359	NM_206933.4(USH2A):c.1256G>T (p.Cys419Phe)	USH2A (C419F)	Single nucleotide variant (missense variant)	Retinal dystrophy +6 more	GPathogenic
Select item 438002	NM_206933.4(USH2A):c.1055C>T (p.Thr352Ile)	USH2A (T352I)	Single nucleotide variant (missense variant)	Retinal dystrophy +5 more	GPathogenic/Likely pathogenic
Select item 48615	NM_206933.4(USH2A):c.920_923dup (p.His308fs)	USH2A (H308fs)	Duplication (frameshift variant)	Retinal dystrophy +7 more	GPathogenic
Select item 438031	NM_206933.4(USH2A):c.895del (p.Gln299fs)	USH2A (Q299fs)	Deletion (frameshift variant)	Retinitis pigmentosa 39 +1 more	GPathogenic
Select item 438026	NM_206933.4(USH2A):c.820C>G (p.Arg274Gly)	USH2A (R274G)	Single nucleotide variant (missense variant)	Usher syndrome type 2A +1 more	GPathogenic
Select item 438000	NM_206933.4(USH2A):c.100C>T (p.Arg34Ter)	USH2A (R34*)	Single nucleotide variant (nonsense)	Usher syndrome type 2A +3 more	GPathogenic/Likely pathogenic
Select item 46374	NM_032119.4(ADGRV1):c.746G>A (p.Arg249Lys)	ADGRV1 (R249K)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 46316	NM_032119.4(ADGRV1):c.3443G>A (p.Gly1148Asp)	ADGRV1 (G1148D)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 6798	NM_032119.4(ADGRV1):c.6901C>T (p.Gln2301Ter)	ADGRV1 (Q2301*)	Single nucleotide variant (nonsense)	Febrile seizures, familial, 4 +3 more	GPathogenic/Likely pathogenic
Select item 438171	NM_032119.4(ADGRV1):c.8807C>G (p.Ser2936Ter)	ADGRV1 (S2936*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 438168	NM_032119.4(ADGRV1):c.12798T>A (p.Tyr4266Ter)	ADGRV1 (Y4266*)	Single nucleotide variant (nonsense +1 more)	Usher syndrome +2 more	GPathogenic
Select item 438169	NM_032119.4(ADGRV1):c.14517G>C (p.Gln4839His)	ADGRV1 (Q4839H)	Single nucleotide variant (missense variant +1 more)	Usher syndrome	GLikely pathogenic
Select item 438170	NM_032119.4(ADGRV1):c.17314C>T (p.Arg5772Ter)	ADGRV1 (R5772*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 438248	Single allele	LOC105378311, MIR548F1 +1 more	Deletion	Usher syndrome	GLikely pathogenic
Select item 438249	NM_001384140.1(PCDH15):c.475-2204_594+1766del	PCDH15	Deletion (splice acceptor variant +1 more)	Usher syndrome	GLikely pathogenic
Select item 437936	NM_153676.4(USH1C):c.748_759+5del	USH1C	Deletion (splice donor variant)	Autosomal recessive nonsyndromic hearing loss 18A +2 more	GPathogenic/Likely pathogenic
Select item 437935	NM_153676.4(USH1C):c.440A>G (p.His147Arg)	USH1C (H147R)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 5141	NM_153676.4(USH1C):c.238dup (p.Arg80fs)	USH1C (R80fs)	Duplication (frameshift variant +1 more)	Usher syndrome +6 more	GPathogenic
Select item 5143	NM_153676.4(USH1C):c.216G>A (p.Val72=)	USH1C	Single nucleotide variant (synonymous variant +1 more)	Rare genetic deafness +5 more	GPathogenic
Select item 12143	NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)	BBS1, ZDHHC24 (M390R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +5 more	GPathogenic/Likely pathogenic
Select item 438174	NM_000260.3(MYO7A):c.22dup (p.Asp8Glyfs)	MYO7A	Duplication	Usher syndrome	GLikely pathogenic
Select item 438176	NM_000260.4(MYO7A):c.324C>A (p.Tyr108Ter)	MYO7A (Y108* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 438180	NM_000260.4(MYO7A):c.721C>T (p.Arg241Cys)	MYO7A (R241C +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 438172	NM_000260.4(MYO7A):c.1849T>C (p.Ser617Pro)	MYO7A (S617P +1 more)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GLikely pathogenic FDA Recognized database
Select item 438173	NM_000260.4(MYO7A):c.1977del (p.Gly660fs)	MYO7A (G649fs +1 more)	Deletion (frameshift variant)	Usher syndrome	GLikely pathogenic
Select item 43169	NM_000260.4(MYO7A):c.2005C>T (p.Arg669Ter)	MYO7A (R669* +1 more)	Single nucleotide variant (nonsense)	Usher syndrome type 1 +5 more	GPathogenic/Likely pathogenic
Select item 438175	NM_000260.4(MYO7A):c.2905-1G>A	MYO7A	Single nucleotide variant (splice acceptor variant)	Usher syndrome	GLikely pathogenic
Select item 438177	NM_000260.4(MYO7A):c.3546C>A (p.Asn1182Lys)	MYO7A (N1182K +1 more)	Single nucleotide variant (missense variant)	Usher syndrome	GLikely pathogenic FDA Recognized database
Select item 43218	NM_000260.4(MYO7A):c.3719G>A (p.Arg1240Gln)	MYO7A (R1240Q +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +7 more	GPathogenic
Select item 418368	NM_000260.4(MYO7A):c.3728C>T (p.Pro1243Leu)	MYO7A (P1243L +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic/Likely pathogenic
Select item 43223	NM_000260.4(MYO7A):c.3764del (p.Lys1255fs)	MYO7A (K1244fs +1 more)	Deletion (frameshift variant)	Usher syndrome type 1 +4 more	GPathogenic/Likely pathogenic
Select item 438178	NM_000260.4(MYO7A):c.4838del (p.Asp1613fs)	MYO7A (D1575fs +2 more)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 438179	NM_000260.4(MYO7A):c.6551C>T (p.Thr2184Met)	MYO7A (T2184M +2 more)	Single nucleotide variant (missense variant)	Usher syndrome +1 more	GPathogenic/Likely pathogenic

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Items: 83