C1848634[trait identifier] AND "3billion"[submitter] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 24

	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 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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 24