C1848634[trait identifier] AND "Myriad Genetics, Inc."[submitter] - ClinVar

Search results

Items: 96

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 48465	NM_206933.4(USH2A):c.15496A>G (p.Ile5166Val)	USH2A (I5166V)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +3 more	GConflicting classifications of pathogenicity
Select item 48461	NM_206933.4(USH2A):c.15364T>C (p.Cys5122Arg)	USH2A (C5122R)	Single nucleotide variant (missense variant)	Usher syndrome type 2A +2 more	GConflicting classifications of pathogenicity
Select item 143177	NM_206933.4(USH2A):c.15233C>G (p.Pro5078Arg)	USH2A (P5078R)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1726041	NM_206933.4(USH2A):c.14661C>A (p.Tyr4887Ter)	USH2A (Y4887*)	Single nucleotide variant (nonsense)	Usher syndrome type 2A	GLikely pathogenic
Select item 557599	NM_206933.4(USH2A):c.14017T>C (p.Tyr4673His)	USH2A (Y4673H)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 1725293	NM_206933.4(USH2A):c.13646T>A (p.Leu4549Ter)	USH2A (L4549*)	Single nucleotide variant (nonsense)	Usher syndrome type 2A	GLikely pathogenic
Select item 1726859	NM_206933.4(USH2A):c.13482T>A (p.Tyr4494Ter)	USH2A (Y4494*)	Single nucleotide variant (nonsense)	Usher syndrome type 2A	GLikely pathogenic
Select item 1725000	NM_206933.4(USH2A):c.13447G>T (p.Gly4483Ter)	USH2A (G4483*)	Single nucleotide variant (nonsense)	Usher syndrome type 2A	GLikely pathogenic
Select item 866208	NM_206933.4(USH2A):c.13348C>T (p.Pro4450Ser)	USH2A (P4450S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1723934	NM_206933.4(USH2A):c.13301C>A (p.Ser4434Ter)	USH2A (S4434*)	Single nucleotide variant (nonsense)	Usher syndrome type 2A	GLikely pathogenic
Select item 1724105	NM_206933.4(USH2A):c.12993T>A (p.Tyr4331Ter)	USH2A (Y4331*)	Single nucleotide variant (nonsense)	Usher syndrome type 2A	GLikely pathogenic
Select item 1725505	NM_206933.4(USH2A):c.12961G>T (p.Glu4321Ter)	USH2A (E4321*)	Single nucleotide variant (nonsense)	Usher syndrome type 2A	GLikely pathogenic
Select item 48409	NM_206933.4(USH2A):c.12874A>G (p.Asn4292Asp)	USH2A (N4292D)	Single nucleotide variant (missense variant)	Retinal dystrophy	GLikely pathogenic FDA Recognized database
Select item 229619	NM_206933.4(USH2A):c.12823T>A (p.Ser4275Thr)	USH2A (S4275T)	Single nucleotide variant (missense variant)	Usher syndrome type 2A +2 more	GConflicting classifications of pathogenicity
Select item 378847	NM_206933.4(USH2A):c.12284G>A (p.Gly4095Asp)	USH2A (G4095D)	Single nucleotide variant (missense variant)	Usher syndrome type 2A +3 more	GPathogenic/Likely pathogenic
Select item 550401	NM_206933.4(USH2A):c.12268C>A (p.Pro4090Thr)	USH2A (P4090T)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +2 more	GPathogenic/Likely pathogenic
Select item 229616	NM_206933.4(USH2A):c.12145G>A (p.Ala4049Thr)	USH2A (A4049T)	Single nucleotide variant (missense variant)	Usher syndrome type 2A +5 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 2357	NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter)	USH2A (W3955*)	Single nucleotide variant (nonsense)	Retinal dystrophy +10 more	GPathogenic
Select item 1725555	NM_206933.4(USH2A):c.11626A>T (p.Lys3876Ter)	USH2A (K3876*)	Single nucleotide variant (nonsense)	Usher syndrome type 2A	GLikely pathogenic
Select item 1724005	NM_206933.4(USH2A):c.11099T>A (p.Leu3700Ter)	USH2A (L3700*)	Single nucleotide variant (nonsense)	Usher syndrome type 2A	GLikely pathogenic
Select item 553421	NM_206933.4(USH2A):c.11048-2A>G	USH2A	Single nucleotide variant (splice acceptor variant)	Retinitis pigmentosa 39 +3 more	GPathogenic/Likely pathogenic
Select item 1724559	NM_206933.4(USH2A):c.10843A>T (p.Lys3615Ter)	USH2A (K3615*)	Single nucleotide variant (nonsense)	Usher syndrome type 2A	GLikely pathogenic
Select item 1725169	NM_206933.4(USH2A):c.10580C>G (p.Ser3527Ter)	USH2A (S3527*)	Single nucleotide variant (nonsense)	Usher syndrome type 2A	GLikely pathogenic
Select item 1724787	NM_206933.4(USH2A):c.10486G>T (p.Glu3496Ter)	USH2A (E3496*)	Single nucleotide variant (nonsense)	Usher syndrome type 2A	GLikely 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 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 1725042	NM_206933.4(USH2A):c.9607G>T (p.Gly3203Ter)	USH2A (G3203*)	Single nucleotide variant (nonsense)	Usher syndrome type 2A	GLikely pathogenic
Select item 1724479	NM_206933.4(USH2A):c.9379C>T (p.Gln3127Ter)	USH2A (Q3127*)	Single nucleotide variant (nonsense)	Usher syndrome type 2A	GLikely pathogenic
Select item 48614	NM_206933.4(USH2A):c.9203T>C (p.Val3068Ala)	USH2A (V3068A)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1724912	NM_206933.4(USH2A):c.9055G>T (p.Glu3019Ter)	USH2A (E3019*)	Single nucleotide variant (nonsense)	Usher syndrome type 2A	GLikely pathogenic
Select item 1723921	NM_206933.4(USH2A):c.8860C>T (p.Gln2954Ter)	USH2A (Q2954*)	Single nucleotide variant (nonsense)	Usher syndrome type 2A	GLikely pathogenic
Select item 1725866	NM_206933.4(USH2A):c.8668A>T (p.Lys2890Ter)	USH2A (K2890*)	Single nucleotide variant (nonsense)	Usher syndrome type 2A	GLikely pathogenic
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 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 1724860	NM_206933.4(USH2A):c.8303T>A (p.Leu2768Ter)	USH2A (L2768*)	Single nucleotide variant (nonsense)	Usher syndrome type 2A	GLikely pathogenic
Select item 1724167	NM_206933.4(USH2A):c.8233A>T (p.Lys2745Ter)	USH2A (K2745*)	Single nucleotide variant (nonsense)	Usher syndrome type 2A	GLikely pathogenic
Select item 1725576	NM_206933.4(USH2A):c.8182C>T (p.Gln2728Ter)	USH2A (Q2728*)	Single nucleotide variant (nonsense)	Usher syndrome type 2A	GLikely pathogenic
Select item 1726938	NM_206933.4(USH2A):c.6831T>A (p.Tyr2277Ter)	USH2A (Y2277*)	Single nucleotide variant (nonsense)	Usher syndrome type 2A	GLikely pathogenic
Select item 1726209	NM_206933.4(USH2A):c.6056T>A (p.Leu2019Ter)	USH2A (L2019*)	Single nucleotide variant (nonsense)	Usher syndrome type 2A	GLikely pathogenic
Select item 1724032	NM_206933.4(USH2A):c.5902G>T (p.Gly1968Ter)	USH2A (G1968*)	Single nucleotide variant (nonsense)	Usher syndrome type 2A	GLikely pathogenic
Select item 1726365	NM_206933.4(USH2A):c.5831G>A (p.Trp1944Ter)	USH2A, USH2A-AS2 (W1944*)	Single nucleotide variant (nonsense)	Usher syndrome type 2A	GLikely 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 48538	NM_206933.4(USH2A):c.5698T>G (p.Cys1900Gly)	USH2A, USH2A-AS2 (C1900G)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1724222	NM_206933.4(USH2A):c.4651A>T (p.Lys1551Ter)	USH2A (K1551*)	Single nucleotide variant (nonsense)	Usher syndrome type 2A	GLikely pathogenic
Select item 550482	NM_206933.4(USH2A):c.4616C>T (p.Thr1539Ile)	USH2A (T1539I)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +4 more	GConflicting classifications of pathogenicity
Select item 1724620	NM_206933.4(USH2A):c.4206_4207insC (p.Ser1403fs)	USH2A, USH2A-AS1 (S1403fs)	Insertion (frameshift variant)	Usher syndrome type 2A	GLikely pathogenic
Select item 1724049	NM_206933.4(USH2A):c.4000A>T (p.Lys1334Ter)	USH2A, USH2A-AS1 (K1334*)	Single nucleotide variant (nonsense)	Usher syndrome type 2A	GLikely pathogenic
Select item 1725381	NM_206933.4(USH2A):c.3892_3899del (p.Gln1298fs)	USH2A, USH2A-AS1 (Q1298fs)	Deletion (frameshift variant)	Usher syndrome type 2A	GLikely pathogenic
Select item 1725891	NM_206933.4(USH2A):c.3811G>T (p.Gly1271Ter)	USH2A, USH2A-AS1 (G1271*)	Single nucleotide variant (nonsense)	Usher syndrome type 2A	GLikely pathogenic
Select item 1725145	NM_206933.4(USH2A):c.3685_3686del (p.Leu1229fs)	USH2A, USH2A-AS1 (L1229fs)	Deletion (frameshift variant)	Usher syndrome type 2A	GLikely pathogenic
Select item 1725594	NM_206933.4(USH2A):c.3623G>A (p.Trp1208Ter)	USH2A, USH2A-AS1 (W1208*)	Single nucleotide variant (nonsense)	Usher syndrome type 2A	GLikely pathogenic
Select item 1724740	NM_206933.4(USH2A):c.3517_3518del (p.Ser1173fs)	USH2A, USH2A-AS1 (S1173fs)	Microsatellite (frameshift variant)	Usher syndrome type 2A	GLikely pathogenic
Select item 1726672	NM_206933.4(USH2A):c.3484_3485del (p.Ser1162fs)	USH2A, USH2A-AS1 (S1162fs)	Deletion (frameshift variant)	Usher syndrome type 2A	GLikely pathogenic
Select item 1725685	NM_206933.4(USH2A):c.3332T>A (p.Leu1111Ter)	USH2A, USH2A-AS1 (L1111*)	Single nucleotide variant (nonsense)	Usher syndrome type 2A	GLikely pathogenic
Select item 1723928	NM_206933.4(USH2A):c.3082_3083del (p.Thr1028fs)	USH2A, USH2A-AS1 (T1028fs)	Deletion (frameshift variant)	Usher syndrome type 2A	GLikely pathogenic
Select item 1725730	NM_206933.4(USH2A):c.3081delinsGTATAAGAGACAGT (p.Thr1028fs)	USH2A, USH2A-AS1 (T1028fs)	Indel (frameshift variant)	Usher syndrome type 2A	GLikely pathogenic
Select item 1724137	NM_206933.4(USH2A):c.3072_3075del (p.Lys1024fs)	USH2A, USH2A-AS1 (K1024fs)	Deletion (frameshift variant)	Usher syndrome type 2A	GLikely pathogenic
Select item 1724172	NM_206933.4(USH2A):c.2962_2964delinsAA (p.His988fs)	USH2A, USH2A-AS1 (H988fs)	Indel (frameshift variant)	Usher syndrome type 2A	GLikely pathogenic
Select item 1724155	NM_206933.4(USH2A):c.2876_2877del (p.Val959fs)	USH2A, USH2A-AS1 (V959fs)	Deletion (frameshift variant)	Usher syndrome type 2A	GLikely pathogenic
Select item 1724250	NM_206933.4(USH2A):c.2846_2849del (p.Leu949fs)	USH2A, USH2A-AS1 (L949fs)	Microsatellite (frameshift variant)	Usher syndrome type 2A	GLikely pathogenic
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 1726900	NM_206933.4(USH2A):c.2729_2730del (p.Gly910fs)	LOC122152296, USH2A (G910fs)	Deletion (frameshift variant)	Usher syndrome type 2A	GLikely pathogenic
Select item 1724052	NM_206933.4(USH2A):c.2683C>T (p.Gln895Ter)	LOC122152296, USH2A (Q895*)	Single nucleotide variant (nonsense)	Usher syndrome type 2A	GLikely pathogenic
Select item 550419	NM_206933.4(USH2A):c.2653C>T (p.His885Tyr)	LOC122152296, USH2A (H885Y)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +5 more	GConflicting classifications of pathogenicity
Select item 1726463	NM_206933.4(USH2A):c.2525del (p.Phe842fs)	LOC122152296, USH2A (F842fs)	Deletion (frameshift variant)	Usher syndrome type 2A	GLikely pathogenic
Select item 1724100	NM_206933.4(USH2A):c.2468_2469insTATAA (p.Arg824fs)	LOC122152296, USH2A (R824fs)	Insertion (frameshift variant)	Usher syndrome type 2A	GLikely pathogenic
Select item 1725163	NM_206933.4(USH2A):c.2451C>A (p.Cys817Ter)	LOC122152296, USH2A (C817*)	Single nucleotide variant (nonsense)	Usher syndrome type 2A	GLikely pathogenic
Select item 1725673	NM_206933.4(USH2A):c.2423_2425delinsCTTAT (p.Cys808fs)	LOC122152296, USH2A (C808fs)	Indel (frameshift variant)	Usher syndrome type 2A	GLikely pathogenic
Select item 1724619	NM_206933.4(USH2A):c.2416_2417insT (p.Thr806fs)	LOC122152296, USH2A (T806fs)	Insertion (frameshift variant)	Usher syndrome type 2A	GLikely pathogenic
Select item 1725603	NM_206933.4(USH2A):c.2377A>T (p.Lys793Ter)	LOC122152296, USH2A (K793*)	Single nucleotide variant (nonsense)	Usher syndrome type 2A	GLikely pathogenic
Select item 178583	NM_206933.4(USH2A):c.2332G>T (p.Asp778Tyr)	LOC122152296, USH2A (D778Y)	Single nucleotide variant (missense variant)	Usher syndrome +4 more	GConflicting classifications of pathogenicity
Select item 1725560	NM_206933.4(USH2A):c.2317A>T (p.Lys773Ter)	LOC122152296, USH2A (K773*)	Single nucleotide variant (nonsense)	Usher syndrome type 2A	GLikely pathogenic
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 1726632	NM_206933.4(USH2A):c.2269A>T (p.Lys757Ter)	USH2A (K757*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 39 +1 more	GLikely pathogenic
Select item 1725481	NM_206933.4(USH2A):c.1994del (p.Lys665fs)	USH2A (K665fs)	Deletion (frameshift variant)	Usher syndrome type 2A	GLikely pathogenic
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 48476	NM_206933.4(USH2A):c.1841-2A>G	USH2A	Single nucleotide variant (splice acceptor variant)	USH2A-related disorder +5 more	GPathogenic
Select item 1725283	NM_206933.4(USH2A):c.1659del (p.Leu553fs)	USH2A (L553fs)	Deletion (frameshift variant)	Usher syndrome type 2A	GLikely pathogenic
Select item 552769	NM_206933.4(USH2A):c.1550G>C (p.Arg517Thr)	USH2A (R517T)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +4 more	GConflicting classifications of pathogenicity
Select item 1726722	NM_206933.4(USH2A):c.1499_1500delinsA (p.Val500fs)	USH2A (V500fs)	Indel (frameshift variant)	Usher syndrome type 2A	GLikely pathogenic
Select item 555113	NM_206933.4(USH2A):c.1481A>G (p.Tyr494Cys)	USH2A (Y494C)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +3 more	GUncertain significance
Select item 1723966	NM_206933.4(USH2A):c.1435_1439del (p.Phe479fs)	USH2A (F479fs)	Deletion (frameshift variant)	Usher syndrome type 2A	GLikely pathogenic
Select item 1725606	NM_206933.4(USH2A):c.1428_1429del (p.Gln477fs)	USH2A (Q477fs)	Deletion (frameshift variant)	Usher syndrome type 2A	GLikely pathogenic
Select item 1726756	NM_206933.4(USH2A):c.1394_1395delinsA (p.Pro465fs)	USH2A (P465fs)	Indel (frameshift variant)	Usher syndrome type 2A	GLikely pathogenic
Select item 1726035	NM_206933.4(USH2A):c.1235G>A (p.Trp412Ter)	USH2A (W412*)	Single nucleotide variant (nonsense)	Usher syndrome type 2A	GLikely pathogenic
Select item 1726249	NM_206933.4(USH2A):c.1170_1176del (p.Ser391fs)	USH2A (S391fs)	Deletion (frameshift variant)	Usher syndrome type 2A	GLikely pathogenic
Select item 1725901	NM_206933.4(USH2A):c.1014_1015insTATT (p.Ala339fs)	USH2A (A339fs)	Insertion (frameshift variant)	Usher syndrome type 2A	GLikely pathogenic
Select item 1725175	NM_206933.4(USH2A):c.997_998delinsA (p.Ser333fs)	USH2A (S333fs)	Indel (frameshift variant)	Usher syndrome type 2A	GLikely pathogenic
Select item 1724686	NM_206933.4(USH2A):c.956del (p.Cys319fs)	USH2A (C319fs)	Deletion (frameshift variant)	Usher syndrome type 2A	GLikely pathogenic
Select item 2355	NM_206933.4(USH2A):c.956G>A (p.Cys319Tyr)	USH2A (C319Y)	Single nucleotide variant (missense variant)	Usher syndrome	GPathogenic FDA Recognized database
Select item 1725907	NM_206933.4(USH2A):c.793C>T (p.Gln265Ter)	USH2A (Q265*)	Single nucleotide variant (nonsense)	Usher syndrome type 2A	GLikely pathogenic
Select item 1725112	NM_206933.4(USH2A):c.734_735del (p.Ser245fs)	USH2A (S245fs)	Deletion (frameshift variant)	Usher syndrome type 2A	GLikely pathogenic
Select item 1074900	NM_206933.4(USH2A):c.675_678del (p.Phe225fs)	USH2A (F225fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1724233	NM_206933.4(USH2A):c.658C>T (p.Gln220Ter)	USH2A (Q220*)	Single nucleotide variant (nonsense)	Usher syndrome type 2A	GLikely pathogenic

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Items: 96