ClinVar for MedGen (Select 83288) - ClinVar

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Items: 86

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1727205	NM_206933.4(USH2A):c.1860C>A (p.Cys620Ter)	USH2A (C620*)	Single nucleotide variant (nonsense)	Usher syndrome type 2	GPathogenic
Select item 1727007	NM_206933.4(USH2A):c.9914_9915del (p.Glu3305fs)	USH2A (E3305fs)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1727006	NM_206933.4(USH2A):c.1645-2A>G	USH2A	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic
Select item 1723462	NM_206933.4(USH2A):c.12313_12319del (p.Asp4105fs)	USH2A (D4105fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1723461	NM_206933.4(USH2A):c.7809C>A (p.Cys2603Ter)	USH2A (C2603*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 1723460	NM_206933.4(USH2A):c.9187A>T (p.Lys3063Ter)	USH2A (K3063*)	Single nucleotide variant (nonsense)	Usher syndrome type 2	GPathogenic
Select item 1723459	NM_206933.4(USH2A):c.6638_6641del (p.Lys2213fs)	USH2A (K2213fs)	Microsatellite (frameshift variant)	Usher syndrome type 2	GPathogenic
Select item 1723456	NM_206933.4(USH2A):c.1850G>A (p.Cys617Tyr)	USH2A (C617Y)	Single nucleotide variant (missense variant)	Usher syndrome type 2	GPathogenic
Select item 1505313	NM_206933.4(USH2A):c.2996G>T (p.Cys999Phe)	USH2A, USH2A-AS1 (C999F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1455422	NM_206933.4(USH2A):c.7168G>T (p.Gly2390Ter)	USH2A (G2390*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1453731	NM_206933.4(USH2A):c.13000C>T (p.Gln4334Ter)	USH2A (Q4334*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1415173	NM_206933.4(USH2A):c.9602_9611del (p.Lys3201fs)	USH2A (K3201fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1387194	NM_032119.4(ADGRV1):c.5005A>G (p.Ile1669Val)	ADGRV1 (I1669V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1377611	NM_206933.4(USH2A):c.11516del (p.Gln3839fs)	USH2A (Q3839fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1352951	NM_206933.4(USH2A):c.2779C>T (p.Gln927Ter)	LOC122152296, USH2A (Q927*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 39 +2 more	GPathogenic/Likely pathogenic
Select item 1069548	NM_206933.4(USH2A):c.11235C>A (p.Tyr3745Ter)	USH2A (Y3745*)	Single nucleotide variant (nonsense)	Usher syndrome type 2 +2 more	GPathogenic
Select item 1043673	NM_206933.4(USH2A):c.7787A>G (p.Tyr2596Cys)	USH2A (Y2596C)	Single nucleotide variant (missense variant)	Usher syndrome type 2 +5 more	GUncertain significance
Select item 1038199	NM_206933.4(USH2A):c.5298+5G>A	USH2A, USH2A-AS2	Single nucleotide variant (intron variant)	Usher syndrome type 2 +1 more	GConflicting classifications of pathogenicity
Select item 958281	NM_206933.4(USH2A):c.13272C>A (p.Cys4424Ter)	USH2A (C4424*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 941952	NM_206933.4(USH2A):c.10834G>A (p.Val3612Ile)	USH2A (V3612I)	Single nucleotide variant (missense variant)	Usher syndrome type 2 +4 more	GUncertain significance
Select item 866398	NM_206933.4(USH2A):c.7940del (p.Pro2647fs)	USH2A (P2647fs)	Deletion (frameshift variant)	Retinitis pigmentosa 39 +2 more	GPathogenic/Likely pathogenic
Select item 853403	NM_206933.4(USH2A):c.2146A>T (p.Lys716Ter)	USH2A (K716*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 39 +1 more	GPathogenic
Select item 813251	NM_206933.4(USH2A):c.668T>C (p.Ile223Thr)	USH2A (I223T)	Single nucleotide variant (missense variant)	Usher syndrome type 2	GPathogenic
Select item 813250	NM_206933.4(USH2A):c.6127_6128dup (p.Ser2043fs)	USH2A (S2043fs)	Microsatellite (frameshift variant)	Usher syndrome type 2 +2 more	GPathogenic
Select item 813248	NM_206933.4(USH2A):c.4184_4185del (p.Val1395fs)	USH2A-AS1, USH2A (V1395fs)	Microsatellite (frameshift variant)	Usher syndrome type 2	GPathogenic
Select item 813245	NM_206933.4(USH2A):c.1986T>A (p.Cys662Ter)	USH2A (C662*)	Single nucleotide variant (nonsense)	Usher syndrome type 2	GPathogenic
Select item 813242	NM_206933.4(USH2A):c.14011_14025del (p.Glu4671_Arg4675del)	USH2A	Deletion (inframe_deletion)	Usher syndrome type 2	GPathogenic
Select item 813194	NM_000260.4(MYO7A):c.1997G>C (p.Arg666Pro)	MYO7A (R655P +1 more)	Single nucleotide variant (missense variant)	Usher syndrome type 2	GPathogenic
Select item 813193	NM_000260.4(MYO7A):c.1853T>G (p.Leu618Arg)	MYO7A (L607R +1 more)	Single nucleotide variant (missense variant)	Usher syndrome type 2	GPathogenic
Select item 813150	NM_032119.4(ADGRV1):c.2241-2A>G	ADGRV1	Single nucleotide variant (splice acceptor variant)	Usher syndrome type 2	GPathogenic
Select item 813149	NM_032119.4(ADGRV1):c.3195dup (p.Gly1066fs)	ADGRV1 (G1066fs)	Duplication (frameshift variant +1 more)	Usher syndrome type 2	GPathogenic
Select item 813122	NM_206933.4(USH2A):c.575A>C (p.Asn192Thr)	USH2A (N192T)	Single nucleotide variant (missense variant)	Usher syndrome type 2	GPathogenic
Select item 813121	NM_206933.4(USH2A):c.9682C>T (p.Gln3228Ter)	USH2A (Q3228*)	Single nucleotide variant (nonsense)	Usher syndrome type 2 +1 more	GPathogenic
Select item 813120	NM_206933.4(USH2A):c.7027del (p.Arg2343fs)	USH2A (R2343fs)	Deletion (frameshift variant)	Usher syndrome type 2 +2 more	GPathogenic
Select item 813119	NM_206933.4(USH2A):c.4210G>T (p.Glu1404Ter)	USH2A, USH2A-AS1 (E1404*)	Single nucleotide variant (nonsense)	Usher syndrome type 2 +1 more	GPathogenic
Select item 813118	NM_206933.4(USH2A):c.3381del (p.Thr1128fs)	USH2A, USH2A-AS1 (T1128fs)	Deletion (frameshift variant)	Usher syndrome type 2A +2 more	GPathogenic
Select item 813117	NM_206933.4(USH2A):c.1521_1522delinsAT (p.Tyr507_Ala508delinsTer)	USH2A	Indel (nonsense)	Usher syndrome type 2A +2 more	GPathogenic
Select item 813116	NM_206933.4(USH2A):c.15063_15081delinsGC (p.Thr5022fs)	USH2A (T5022fs)	Indel (frameshift variant)	Retinal dystrophy +5 more	GPathogenic/Likely pathogenic
Select item 813115	NM_206933.4(USH2A):c.14761G>T (p.Glu4921Ter)	USH2A (E4921*)	Single nucleotide variant (nonsense)	Usher syndrome type 2 +2 more	GPathogenic/Likely pathogenic
Select item 813114	NM_206933.4(USH2A):c.12855G>A (p.Trp4285Ter)	USH2A (W4285*)	Single nucleotide variant (nonsense)	Usher syndrome type 2 +1 more	GPathogenic
Select item 813108	NM_206933.4(USH2A):c.12333dup (p.Gly4112fs)	USH2A (G4112fs)	Duplication (frameshift variant)	Usher syndrome type 2 +2 more	GPathogenic
Select item 813103	NM_153676.4(USH1C):c.580-2A>T	USH1C	Single nucleotide variant (splice acceptor variant)	Hearing impairment +2 more	GPathogenic/Likely pathogenic
Select item 813102	NM_153676.4(USH1C):c.263del (p.Val88fs)	USH1C (V88fs)	Deletion (frameshift variant +1 more)	Usher syndrome type 2 +1 more	GPathogenic
Select item 813030	NM_022124.6(CDH23):c.9077+1G>A	CDH23	Single nucleotide variant (splice donor variant)	Usher syndrome type 2 +1 more	GPathogenic
Select item 813028	NM_022124.6(CDH23):c.8053G>T (p.Ala2685Ser)	CDH23, LOC111982869 (A445S +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 812461	NM_206933.4(USH2A):c.1840G>A (p.Gly614Arg)	USH2A (G614R)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 812460	NM_206933.4(USH2A):c.1856T>C (p.Leu619Pro)	USH2A (L619P)	Single nucleotide variant (missense variant)	Usher syndrome type 2	GLikely pathogenic
Select item 812459	NM_206933.4(USH2A):c.2109T>G (p.Asp703Glu)	USH2A (D703E)	Single nucleotide variant (missense variant)	Usher syndrome type 2	GLikely pathogenic
Select item 812455	NM_206933.4(USH2A):c.5519G>T (p.Gly1840Val)	USH2A-AS2, USH2A (G1840V)	Single nucleotide variant (missense variant)	Usher syndrome type 2	GPathogenic
Select item 812454	NM_206933.4(USH2A):c.8721T>A (p.Ser2907Arg)	USH2A (S2907R)	Single nucleotide variant (missense variant)	Usher syndrome type 2	GLikely pathogenic
Select item 812452	NM_206933.4(USH2A):c.10211del (p.Pro3404fs)	USH2A (P3404fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 812450	NM_206933.4(USH2A):c.12114del (p.Tyr4039fs)	USH2A (Y4039fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 812448	NM_206933.4(USH2A):c.14023A>T (p.Arg4675Ter)	USH2A (R4675*)	Single nucleotide variant (nonsense)	Usher syndrome type 2	GPathogenic
Select item 812216	NM_032119.4(ADGRV1):c.15494del (p.Lys5165fs)	ADGRV1 (K5165fs)	Deletion (frameshift variant +1 more)	Usher syndrome type 2	GPathogenic
Select item 812215	NM_032119.4(ADGRV1):c.12125del (p.Met4042fs)	ADGRV1 (M4042fs)	Deletion (frameshift variant +1 more)	Usher syndrome type 2	GPathogenic
Select item 695022	NM_032119.4(ADGRV1):c.17974-1G>C	ADGRV1	Single nucleotide variant (splice acceptor variant)	Usher syndrome type 2 +1 more	GPathogenic
Select item 695021	NM_032119.4(ADGRV1):c.10458G>A (p.Trp3486Ter)	ADGRV1 (W3486*)	Single nucleotide variant (nonsense +1 more)	Usher syndrome type 2 +1 more	GPathogenic
Select item 597787	NM_206933.4(USH2A):c.4016T>G (p.Val1339Gly)	USH2A, USH2A-AS1 (V1339G)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 555522	NM_206933.4(USH2A):c.8558+1G>T	USH2A	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa 39 +3 more	GPathogenic/Likely pathogenic
Select item 552849	NM_206933.4(USH2A):c.236_239dup (p.Gln81fs)	USH2A (Q81fs)	Duplication (frameshift variant)	Usher syndrome type 2A +4 more	GPathogenic
Select item 552628	NM_206933.4(USH2A):c.14424C>A (p.Cys4808Ter)	USH2A (C4808*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 39 +1 more	GLikely pathogenic
Select item 552304	NM_206933.4(USH2A):c.1001G>A (p.Arg334Gln)	USH2A (R334Q)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +3 more	GPathogenic/Likely pathogenic
Select item 444205	NM_206933.4(USH2A):c.4365T>G (p.Ser1455Arg)	USH2A (S1455R)	Single nucleotide variant (missense variant)	Usher syndrome type 2 +1 more	GConflicting classifications of pathogenicity
Select item 424972	NM_153676.4(USH1C):c.841_848del (p.Ser281fs)	USH1C (S281fs)	Deletion (frameshift variant +2 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 424939	NM_206933.4(USH2A):c.3221G>A (p.Trp1074Ter)	USH2A, USH2A-AS1 (W1074*)	Single nucleotide variant (nonsense)	Usher syndrome type 2A +2 more	GPathogenic/Likely pathogenic
Select item 424937	NM_206933.4(USH2A):c.5777-2A>C	USH2A, USH2A-AS2	Single nucleotide variant (splice acceptor variant)	Usher syndrome type 2A +2 more	GPathogenic/Likely pathogenic
Select item 424930	NM_206933.4(USH2A):c.12892T>A (p.Tyr4298Asn)	USH2A (Y4298N)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 424928	NM_206933.4(USH2A):c.14129A>C (p.Tyr4710Ser)	USH2A (Y4710S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 374742	NM_000260.4(MYO7A):c.137_138dup (p.Trp47fs)	MYO7A (W47fs +1 more)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 228414	NM_206933.4(USH2A):c.5776+1G>A	USH2A, USH2A-AS2	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa +6 more	GPathogenic
Select item 228411	NM_206933.4(USH2A):c.1000C>T (p.Arg334Trp)	USH2A (R334W)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +4 more	GPathogenic/Likely pathogenic
Select item 180092	NM_206933.4(USH2A):c.5877del (p.Ser1961fs)	USH2A (S1961fs)	Deletion (frameshift variant)	Retinal dystrophy +5 more	GPathogenic/Likely pathogenic
Select item 143179	NM_206933.4(USH2A):c.2802T>G (p.Cys934Trp)	LOC122152296, USH2A (C934W)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 76051	NM_032119.4(ADGRV1):c.9679C>T (p.Arg3227Ter)	ADGRV1 (R3227*)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 48626	NM_206933.4(USH2A):c.9424G>T (p.Gly3142Ter)	USH2A (G3142*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 39 +7 more	GPathogenic/Likely pathogenic
Select item 48592	NM_206933.4(USH2A):c.802G>A (p.Gly268Arg)	USH2A (G268R)	Single nucleotide variant (missense variant)	Usher syndrome +4 more	GPathogenic/Likely pathogenic
Select item 48476	NM_206933.4(USH2A):c.1841-2A>G	USH2A	Single nucleotide variant (splice acceptor variant)	Retinitis pigmentosa 39 +6 more	GPathogenic
Select item 48390	NM_206933.4(USH2A):c.12067-2A>G	USH2A	Single nucleotide variant (splice acceptor variant)	not provided +4 more	GPathogenic
Select item 48373	NM_206933.4(USH2A):c.1139A>G (p.Tyr380Cys)	USH2A (Y380C)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 46404	NM_032119.4(ADGRV1):c.9440G>A (p.Arg3147Gln)	ADGRV1 (R3147Q)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 46290	NM_032119.4(ADGRV1):c.1718G>T (p.Gly573Val)	ADGRV1 (G573V)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 46275	NM_032119.4(ADGRV1):c.14973-2A>G	ADGRV1	Single nucleotide variant (splice acceptor variant)	Usher syndrome +3 more	GPathogenic/Likely pathogenic
Select item 30722	NM_206933.4(USH2A):c.7595-2144A>G	USH2A	Single nucleotide variant (intron variant)	not provided +6 more	GPathogenic/Likely pathogenic
Select item 2361	NM_206933.4(USH2A):c.2209C>T (p.Arg737Ter)	USH2A (R737*)	Single nucleotide variant (nonsense)	Rare genetic deafness +3 more	GPathogenic
Select item 2358	NM_206933.4(USH2A):c.949C>A (p.Arg317=)	USH2A	Single nucleotide variant (synonymous variant)	Rare genetic deafness +10 more	GPathogenic
Select item 2357	NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter)	USH2A (W3955*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa +10 more	GPathogenic

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Items: 86