"Broad Center for Mendelian Genomics, Broad Institute of MIT and Harva - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1297131	NM_206933.4(USH2A):c.15188T>C (p.Leu5063Pro)	USH2A (L5063P)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 555201	NM_206933.4(USH2A):c.14977_14978del (p.Phe4993fs)	USH2A (F4993fs)	Deletion (frameshift variant)	Usher syndrome type 2A +4 more	GPathogenic
Select item 429215	NM_206933.4(USH2A):c.14219C>A (p.Ala4740Asp)	USH2A (A4740D)	Single nucleotide variant (missense variant)	Usher syndrome	GUncertain significance FDA Recognized database
Select item 554155	NM_206933.4(USH2A):c.13339A>G (p.Met4447Val)	USH2A (M4447V)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 166434	NM_206933.4(USH2A):c.12575G>A (p.Arg4192His)	USH2A (R4192H)	Single nucleotide variant (missense variant)	USH2A-related condition +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 48395	NM_206933.4(USH2A):c.12295-3T>A	USH2A	Single nucleotide variant (intron variant)	Usher syndrome	GPathogenic FDA Recognized database
Select item 2357	NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter)	USH2A (W3955*)	Single nucleotide variant (nonsense)	Usher syndrome +11 more	GPathogenic
Select item 1297137	NM_206933.4(USH2A):c.11684G>A (p.Gly3895Glu)	USH2A (G3895E)	Single nucleotide variant (missense variant)	Retinitis pigmentosa	GLikely pathogenic
Select item 1297142	NM_206933.4(USH2A):c.10636G>T (p.Gly3546Ter)	USH2A (G3546*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 48352	NM_206933.4(USH2A):c.10561T>C (p.Trp3521Arg)	USH2A (W3521R)	Single nucleotide variant (missense variant)	Rare genetic deafness +6 more	GPathogenic/Likely pathogenic
Select item 866222	NM_206933.4(USH2A):c.10485AGA[1] (p.Glu3496del)	USH2A (E3496del)	Microsatellite (inframe_deletion)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1297140	NM_206933.4(USH2A):c.10197C>A (p.Cys3399Ter)	USH2A (C3399*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 197932	NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr)	USH2A (C3358Y)	Single nucleotide variant (missense variant)	Usher syndrome +6 more	GPathogenic/Likely pathogenic
Select item 226441	NM_206933.4(USH2A):c.9921T>G (p.Cys3307Trp)	USH2A (C3307W)	Single nucleotide variant (missense variant)	Usher syndrome	GUncertain significance FDA Recognized database
Select item 438036	NM_206933.4(USH2A):c.9882C>G (p.Cys3294Trp)	USH2A (C3294W)	Single nucleotide variant (missense variant)	Retinal dystrophy +4 more	GConflicting classifications of pathogenicity
Select item 553424	NM_206933.4(USH2A):c.9815C>T (p.Pro3272Leu)	USH2A (P3272L)	Single nucleotide variant (missense variant)	Usher syndrome +5 more	GPathogenic/Likely pathogenic
Select item 73556	NM_206933.4(USH2A):c.9433C>T (p.Leu3145Phe)	USH2A (L3145F)	Single nucleotide variant (missense variant)	Usher syndrome	GUncertain significance FDA Recognized database
Select item 48626	NM_206933.4(USH2A):c.9424G>T (p.Gly3142Ter)	USH2A (G3142*)	Single nucleotide variant (nonsense)	Usher syndrome +7 more	GPathogenic/Likely pathogenic
Select item 1297141	NM_206933.4(USH2A):c.9391dup (p.Val3131fs)	USH2A (V3131fs)	Duplication (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 551824	NM_206933.4(USH2A):c.9335_9358del (p.Asp3112_Arg3119del)	USH2A	Deletion (inframe_deletion)	Retinitis pigmentosa 39 +2 more	GUncertain significance
Select item 558565	NM_206933.4(USH2A):c.8846-1G>T	USH2A	Single nucleotide variant (splice acceptor variant)	not provided +3 more	GLikely pathogenic
Select item 197510	NM_206933.4(USH2A):c.8682-9A>G	USH2A	Single nucleotide variant (intron variant)	Usher syndrome	GPathogenic FDA Recognized database
Select item 495329	NM_206933.4(USH2A):c.8681G>A (p.Arg2894Lys)	USH2A (R2894K)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +2 more	GPathogenic/Likely pathogenic
Select item 1297132	NM_206933.4(USH2A):c.8395G>T (p.Gly2799Cys)	USH2A (G2799C)	Single nucleotide variant (missense variant)	Retinitis pigmentosa	GUncertain significance
Select item 96667	NM_206933.4(USH2A):c.7915T>C (p.Ser2639Pro)	USH2A (S2639P)	Single nucleotide variant (missense variant)	Usher syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1297134	NM_206933.4(USH2A):c.7412T>A (p.Leu2471His)	USH2A (L2471H)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 2412695	NM_206933.4(USH2A):c.7047G>A (p.Trp2349Ter)	USH2A (W2349*)	Single nucleotide variant (nonsense)	Usher syndrome type 2A +1 more	GPathogenic/Likely pathogenic
Select item 560523	NM_206933.4(USH2A):c.6722C>T (p.Pro2241Leu)	USH2A (P2241L)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 939338	NM_206933.4(USH2A):c.6163G>A (p.Ala2055Thr)	USH2A (A2055T)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 228414	NM_206933.4(USH2A):c.5776+1G>A	USH2A, USH2A-AS2	Single nucleotide variant (splice donor variant)	Rare genetic deafness +6 more	GPathogenic
Select item 1297135	NM_206933.4(USH2A):c.5613_5614insTTAACTTG (p.Ala1872fs)	USH2A, USH2A-AS2 (A1872fs)	Insertion (frameshift variant)	Retinitis pigmentosa	GLikely pathogenic
Select item 166504	NM_007123.6(USH2A):c.4510dup (p.Arg1504fs)	USH2A (R1504fs)	Duplication	Usher syndrome	GPathogenic FDA Recognized database
Select item 48511	NM_206933.4(USH2A):c.4106C>T (p.Ser1369Leu)	USH2A, USH2A-AS1 (S1369L)	Single nucleotide variant (missense variant)	Usher syndrome +6 more	GConflicting classifications of pathogenicity
Select item 438020	NM_206933.4(USH2A):c.4027A>C (p.Asn1343His)	USH2A, USH2A-AS1 (N1343H)	Single nucleotide variant (missense variant)	Retinal dystrophy +4 more	GUncertain significance
Select item 1297138	NM_206933.4(USH2A):c.2810-1G>A	USH2A, USH2A-AS1	Single nucleotide variant (splice acceptor variant)	Retinitis pigmentosa	GLikely pathogenic
Select item 2351	NM_206933.4(USH2A):c.2299del (p.Glu767fs)	USH2A (E767fs)	Deletion (frameshift variant)	Retinitis pigmentosa 39 +23 more	GConflicting classifications of pathogenicity
Select item 812458	NM_206933.4(USH2A):c.2296T>C (p.Cys766Arg)	USH2A (C766R)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +5 more	GPathogenic/Likely pathogenic
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 285412	NM_206933.4(USH2A):c.1813T>C (p.Cys605Arg)	USH2A (C605R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1297136	NM_206933.4(USH2A):c.1606T>A (p.Cys536Ser)	USH2A (C536S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 379205	NM_206933.4(USH2A):c.1227G>A (p.Trp409Ter)	USH2A (W409*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 495336	NM_206933.4(USH2A):c.1111_1112del (p.Ile371fs)	USH2A (I371fs)	Deletion (frameshift variant)	Usher syndrome type 2A +3 more	GPathogenic/Likely pathogenic
Select item 48347	NM_206933.4(USH2A):c.1036A>C (p.Asn346His)	USH2A (N346H)	Single nucleotide variant (missense variant)	Usher syndrome	GPathogenic FDA Recognized database
Select item 48615	NM_206933.4(USH2A):c.920_923dup (p.His308fs)	USH2A (H308fs)	Duplication (frameshift variant)	Retinal degeneration +7 more	GPathogenic
Select item 48564	NM_206933.4(USH2A):c.653T>A (p.Val218Glu)	USH2A (V218E)	Single nucleotide variant (missense variant)	USH2A-related condition +6 more	GConflicting classifications of pathogenicity

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Items: 46