ClinVar for PubMed (Select 20507924) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3010561	NM_206933.4(USH2A):c.6642T>A (p.Tyr2214Ter)	USH2A (Y2214*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3001886	NM_206933.4(USH2A):c.3299dup (p.Asp1101fs)	USH2A, USH2A-AS1 (D1101fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2997634	NM_206933.4(USH2A):c.5719del (p.Leu1907fs)	USH2A, USH2A-AS2 (L1907fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2971419	NM_206933.4(USH2A):c.7300+1G>T	USH2A	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 2958956	NM_206933.4(USH2A):c.3395del (p.Gly1132fs)	USH2A, USH2A-AS1 (G1132fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2913611	NM_206933.4(USH2A):c.14161del (p.Ala4721fs)	USH2A (A4721fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2910132	NM_206933.4(USH2A):c.14565del (p.Asn4856fs)	USH2A (N4856fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2907307	NM_206933.4(USH2A):c.1416_1441del (p.Asn472fs)	USH2A (N472fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2892158	NM_206933.4(USH2A):c.10702A>T (p.Lys3568Ter)	USH2A (K3568*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2881475	NM_206933.4(USH2A):c.6363_6364del (p.Ala2122fs)	USH2A (A2122fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2872206	NM_206933.4(USH2A):c.792_795del (p.Glu264fs)	USH2A (E264fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2866708	NM_206933.4(USH2A):c.8224-1G>T	USH2A	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 2866458	NM_206933.4(USH2A):c.3252G>A (p.Trp1084Ter)	USH2A, USH2A-AS1 (W1084*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2865723	NM_206933.4(USH2A):c.6712_6722del (p.Glu2238fs)	USH2A (E2238fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2865206	NM_206933.4(USH2A):c.12253dup (p.Leu4085fs)	USH2A (L4085fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2865168	NM_206933.4(USH2A):c.13524dup (p.Val4509fs)	USH2A (V4509fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2864724	NM_206933.4(USH2A):c.4397-1del	USH2A	Deletion (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2863877	NM_206933.4(USH2A):c.8457del (p.Val2820fs)	USH2A (V2820fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2861177	NM_206933.4(USH2A):c.9967del (p.Cys3323fs)	USH2A (C3323fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2858179	NM_206933.4(USH2A):c.13812-1G>T	USH2A	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 2858033	NM_206933.4(USH2A):c.13524del (p.Thr4508_Val4509insTer)	USH2A	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2855478	NM_206933.4(USH2A):c.1130del (p.Asn377fs)	USH2A (N377fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2854973	NM_206933.4(USH2A):c.5635del (p.Val1879fs)	USH2A, USH2A-AS2 (V1879fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2854900	NM_206933.4(USH2A):c.6752C>G (p.Ser2251Ter)	USH2A (S2251*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2854099	NM_206933.4(USH2A):c.2194G>T (p.Gly732Ter)	USH2A (G732*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2853673	NM_206933.4(USH2A):c.201T>A (p.Cys67Ter)	USH2A (C67*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2853631	NM_206933.4(USH2A):c.10569dup (p.Pro3524fs)	USH2A (P3524fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2852374	NM_206933.4(USH2A):c.13763del (p.Ser4588fs)	USH2A (S4588fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2852309	NM_206933.4(USH2A):c.1473_1474delinsTT (p.Gln492Ter)	USH2A (Q492*)	Indel (nonsense)	not provided	GPathogenic
Select item 2852308	NM_206933.4(USH2A):c.1476_1491del (p.Tyr493fs)	USH2A (Y493fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2852207	NM_206933.4(USH2A):c.763C>T (p.Gln255Ter)	USH2A (Q255*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2847661	NM_206933.4(USH2A):c.3073C>T (p.Gln1025Ter)	USH2A, USH2A-AS1 (Q1025*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2847645	NM_206933.4(USH2A):c.3611del (p.Thr1203_Ser1204insTer)	USH2A, USH2A-AS1	Deletion (nonsense)	not provided	GPathogenic
Select item 2846521	NM_206933.4(USH2A):c.7637del (p.Lys2545_Ser2546insTer)	USH2A	Deletion (nonsense)	not provided	GPathogenic
Select item 2845475	NM_206933.4(USH2A):c.8681+1G>C	USH2A	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 2843515	NM_206933.4(USH2A):c.6369C>A (p.Cys2123Ter)	USH2A (C2123*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2842425	NM_206933.4(USH2A):c.7301-2A>C	USH2A	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 2841266	NM_206933.4(USH2A):c.2498del (p.Asn833fs)	LOC122152296, USH2A (N833fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2839314	NM_206933.4(USH2A):c.3905G>A (p.Trp1302Ter)	USH2A, USH2A-AS1 (W1302*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2838040	NM_206933.4(USH2A):c.2994-1G>A	USH2A-AS1, USH2A	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 2837776	NM_206933.4(USH2A):c.11421C>A (p.Tyr3807Ter)	USH2A (Y3807*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2837287	NM_206933.4(USH2A):c.233del (p.Phe78fs)	USH2A (F78fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2836645	NM_206933.4(USH2A):c.2491G>T (p.Glu831Ter)	LOC122152296, USH2A (E831*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2834700	NM_206933.4(USH2A):c.14532_14535del (p.Ala4845fs)	USH2A (A4845fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2829487	NM_206933.4(USH2A):c.6486-2A>G	USH2A	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2828337	NM_206933.4(USH2A):c.8963del (p.Lys2988fs)	USH2A (K2988fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2824665	NM_206933.4(USH2A):c.1903_1919del (p.Ile635fs)	USH2A (I635fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2824424	NM_206933.4(USH2A):c.11289C>A (p.Tyr3763Ter)	USH2A (Y3763*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2823425	NM_206933.4(USH2A):c.12067-2A>C	USH2A	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 2823192	NM_206933.4(USH2A):c.9833del (p.Asn3278fs)	USH2A (N3278fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2822740	NM_206933.4(USH2A):c.13256del (p.Phe4419fs)	USH2A (F4419fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2819881	NM_206933.4(USH2A):c.10466del (p.Ala3489fs)	USH2A (A3489fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2817256	NM_206933.4(USH2A):c.13731_13743del (p.Thr4577_Lys4578insTer)	USH2A	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2817169	NM_206933.4(USH2A):c.946C>T (p.Gln316Ter)	USH2A (Q316*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2815291	NM_206933.4(USH2A):c.3317-2A>C	USH2A, USH2A-AS1	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 2814622	NM_206933.4(USH2A):c.10387+1G>A	USH2A	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2814611	NM_206933.4(USH2A):c.2099_2120del (p.Gly700fs)	USH2A (G700fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2814135	NM_206933.4(USH2A):c.1786del (p.Glu596fs)	USH2A (E596fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2813063	NM_206933.4(USH2A):c.2965dup (p.Tyr989fs)	USH2A, USH2A-AS1 (Y989fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2811105	NM_206933.4(USH2A):c.10714del (p.Val3572fs)	USH2A (V3572fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2810698	NM_206933.4(USH2A):c.271A>T (p.Arg91Ter)	USH2A (R91*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2810638	NM_206933.4(USH2A):c.1551-2A>G	USH2A	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2810536	NM_206933.4(USH2A):c.6195del (p.Lys2065fs)	USH2A (K2065fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2810259	NM_206933.4(USH2A):c.2846_2849dup (p.Cys951fs)	USH2A, USH2A-AS1 (C951fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 2809953	NM_206933.4(USH2A):c.4320T>A (p.Tyr1440Ter)	USH2A (Y1440*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2802222	NM_206933.4(USH2A):c.9285C>A (p.Cys3095Ter)	USH2A (C3095*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2795548	NM_206933.4(USH2A):c.7818del (p.Gly2607fs)	USH2A (G2607fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2792462	NM_206933.4(USH2A):c.14970del (p.Phe4991fs)	USH2A (F4991fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2780275	NM_206933.4(USH2A):c.1551-1G>A	USH2A	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2779994	NM_206933.4(USH2A):c.7188G>A (p.Trp2396Ter)	USH2A (W2396*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2779991	NM_206933.4(USH2A):c.11811_11812del (p.Tyr3938fs)	USH2A (Y3938fs)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic
Select item 2779989	NM_206933.4(USH2A):c.14792-1G>A	USH2A	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 2776480	NM_206933.4(USH2A):c.5095C>T (p.Gln1699Ter)	USH2A, USH2A-AS2 (Q1699*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2772939	NM_206933.4(USH2A):c.13187_13188del (p.Lys4396fs)	USH2A (K4396fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2772435	NM_206933.4(USH2A):c.2232T>A (p.Cys744Ter)	USH2A (C744*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2771001	NM_206933.4(USH2A):c.2733del (p.Ile912fs)	LOC122152296, USH2A (I912fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2770460	NM_206933.4(USH2A):c.1645-2A>T	USH2A	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 2770224	NM_206933.4(USH2A):c.20C>G (p.Ser7Ter)	USH2A (S7*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2767007	NM_206933.4(USH2A):c.11881_11882del (p.Leu3961fs)	USH2A (L3961fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 2766400	NM_206933.4(USH2A):c.10934_10935dup (p.Thr3646fs)	USH2A (T3646fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2765664	NM_206933.4(USH2A):c.4396+2T>C	USH2A	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 2762951	NM_206933.4(USH2A):c.13337del (p.Asn4446fs)	USH2A (N4446fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2761008	NM_206933.4(USH2A):c.4615_4616insAA (p.Thr1539fs)	USH2A (T1539fs)	Insertion (frameshift variant)	not provided	GPathogenic
Select item 2760845	NM_206933.4(USH2A):c.7605del (p.Pro2535_Val2536insTer)	USH2A	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2760362	NM_206933.4(USH2A):c.9958+1G>C	USH2A	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2760012	NM_206933.4(USH2A):c.4117dup (p.Leu1373fs)	USH2A, USH2A-AS1 (L1373fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2758984	NM_206933.4(USH2A):c.2532_2535del (p.Pro846fs)	LOC122152296, USH2A (P846fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 2757998	NM_206933.4(USH2A):c.3157+1G>A	USH2A, USH2A-AS1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2756556	NM_206933.4(USH2A):c.2145dup (p.Lys716fs)	USH2A (K716fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2755494	NM_206933.4(USH2A):c.1840+1G>T	USH2A	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 2754876	NM_206933.4(USH2A):c.9353_9354del (p.Ile3118fs)	USH2A (I3118fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2754586	NM_206933.4(USH2A):c.4249C>T (p.Gln1417Ter)	USH2A, USH2A-AS1 (Q1417*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2754267	NM_206933.4(USH2A):c.13070C>G (p.Ser4357Ter)	USH2A (S4357*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2752968	NM_206933.4(USH2A):c.5024del (p.Asp1675fs)	USH2A, USH2A-AS2 (D1675fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2752076	NM_206933.4(USH2A):c.11232-1G>C	USH2A	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2751516	NM_206933.4(USH2A):c.3039del (p.Cys1014fs)	USH2A, USH2A-AS1 (C1014fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2750569	NM_206933.4(USH2A):c.14897del (p.Val4965_Leu4966insTer)	USH2A	Deletion (nonsense)	not provided	GPathogenic
Select item 2749303	NM_206933.4(USH2A):c.15391C>T (p.Gln5131Ter)	USH2A (Q5131*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2748991	NM_206933.4(USH2A):c.805A>T (p.Arg269Ter)	USH2A (R269*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2748708	NM_206933.4(USH2A):c.6349C>T (p.Gln2117Ter)	USH2A (Q2117*)	Single nucleotide variant (nonsense)	not provided	GPathogenic

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