"3billion"[submitter] AND "USH2A"[gene] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1687247	NM_206933.4(USH2A):c.14835del (p.Val4946fs)	USH2A (V4946fs)	Deletion (frameshift variant)	Usher syndrome type 2A +1 more	GPathogenic
Select item 1333574	NM_206933.4(USH2A):c.13599del (p.Met4535fs)	USH2A (M4535fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 554155	NM_206933.4(USH2A):c.13339A>G (p.Met4447Val)	USH2A (M4447V)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +4 more	GConflicting classifications of pathogenicity
Select item 558585	NM_206933.4(USH2A):c.13112_13115del (p.Gln4371fs)	USH2A (Q4371fs)	Deletion (frameshift variant)	Retinal dystrophy +4 more	GPathogenic/Likely pathogenic
Select item 1333462	NM_206933.4(USH2A):c.13018G>C (p.Gly4340Arg)	USH2A (G4340R)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 1705473	NM_206933.4(USH2A):c.12708T>A (p.Cys4236Ter)	USH2A (C4236*)	Single nucleotide variant (nonsense)	Usher syndrome type 2A	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 48390	NM_206933.4(USH2A):c.12067-2A>G	USH2A	Single nucleotide variant (splice acceptor variant)	Retinal dystrophy +4 more	GPathogenic
Select item 229615	NM_206933.4(USH2A):c.11366T>C (p.Ile3789Thr)	USH2A (I3789T)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
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 1333540	NM_206933.4(USH2A):c.10585+1G>A	USH2A	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 228418	NM_206933.4(USH2A):c.9570+1G>A	USH2A	Single nucleotide variant (splice donor variant)	Rare genetic deafness +4 more	GPathogenic
Select item 48604	NM_206933.4(USH2A):c.8559-2A>G	USH2A	Single nucleotide variant (splice acceptor variant)	Usher syndrome	GPathogenic FDA Recognized database
Select item 1705706	NM_206933.4(USH2A):c.8141G>A (p.Trp2714Ter)	USH2A (W2714*)	Single nucleotide variant (nonsense)	Usher syndrome type 2A	GPathogenic
Select item 560523	NM_206933.4(USH2A):c.6722C>T (p.Pro2241Leu)	USH2A (P2241L)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +4 more	GPathogenic/Likely pathogenic
Select item 228414	NM_206933.4(USH2A):c.5776+1G>A	USH2A, USH2A-AS2	Single nucleotide variant (splice donor variant)	not provided +6 more	GPathogenic
Select item 2444232	NM_206933.4(USH2A):c.5191_5192del (p.Met1731fs)	USH2A, USH2A-AS2 (M1731fs)	Microsatellite (frameshift variant)	Usher syndrome type 2A +1 more	GPathogenic
Select item 1687359	NM_206933.4(USH2A):c.4858C>T (p.Gln1620Ter)	USH2A (Q1620*)	Single nucleotide variant (nonsense)	Usher syndrome type 2A	GLikely pathogenic
Select item 867207	NM_206933.4(USH2A):c.4576G>A (p.Gly1526Arg)	USH2A (G1526R)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
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 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 866467	NM_206933.4(USH2A):c.2187C>A (p.Cys729Ter)	USH2A (C729*)	Single nucleotide variant (nonsense)	not provided +3 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 1705501	NM_206933.4(USH2A):c.486-2A>C	USH2A	Single nucleotide variant (splice acceptor variant)	Usher syndrome type 2A	GLikely pathogenic

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Items: 25