Related gene-specific medical variations for Gene (Select 84343) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3106833	NM_032383.5(HPS3):c.2747C>T (p.Pro916Leu)	CP, HPS3 (P751L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3106832	NM_032383.5(HPS3):c.2315A>G (p.Asp772Gly)	CP, HPS3 (D607G +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3017507	NM_000096.4(CP):c.3186C>A (p.Thr1062=)	HPS3, CP	Single nucleotide variant (synonymous variant +1 more)	Deficiency of ferroxidase	GLikely benign
Select item 3013762	NM_032383.5(HPS3):c.2888-14T>C	CP, HPS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3012703	NM_032383.5(HPS3):c.2589+17C>G	CP, HPS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3007199	NM_032383.5(HPS3):c.2498A>T (p.His833Leu)	CP, HPS3 (H668L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3001189	NM_032383.5(HPS3):c.2481+12G>A	CP, HPS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2992879	NM_032383.5(HPS3):c.2589+18_2589+20del	CP, HPS3	Deletion (intron variant)	not provided	GLikely benign
Select item 2987118	NM_032383.5(HPS3):c.2481+1G>A	CP, HPS3	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2985538	NM_032383.5(HPS3):c.2679C>T (p.Val893=)	CP, HPS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2966085	NM_032383.5(HPS3):c.2697A>G (p.Thr899=)	CP, HPS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2959825	NM_032383.5(HPS3):c.2293-11C>T	CP, HPS3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2917658	NM_032383.5(HPS3):c.2337A>G (p.Val779=)	CP, HPS3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2909141	NM_032383.5(HPS3):c.2763A>G (p.Pro921=)	CP, HPS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2904359	NM_032383.5(HPS3):c.2481+12G>T	CP, HPS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2903484	NM_032383.5(HPS3):c.2589+15C>G	CP, HPS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2898989	NM_032383.5(HPS3):c.2946A>G (p.Pro982=)	CP, HPS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2893909	NM_032383.5(HPS3):c.2637C>A (p.Phe879Leu)	CP, HPS3 (F879L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2891659	NM_032383.5(HPS3):c.2887+12T>A	CP, HPS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2890314	NM_032383.5(HPS3):c.2482-12T>C	CP, HPS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2886771	NM_032383.5(HPS3):c.2797-8T>C	CP, HPS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2885421	NM_032383.5(HPS3):c.2293-18C>T	CP, HPS3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2882319	NM_032383.5(HPS3):c.2888-13C>A	CP, HPS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2875242	NM_032383.5(HPS3):c.2988T>C (p.Tyr996=)	CP, HPS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2872597	NM_032383.5(HPS3):c.2679C>G (p.Val893=)	CP, HPS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2872086	NM_032383.5(HPS3):c.2797-4A>T	CP, HPS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2867829	NM_032383.5(HPS3):c.2976A>G (p.Pro992=)	HPS3, CP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2855114	NM_032383.5(HPS3):c.2589+12T>G	CP, HPS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2852130	NM_032383.5(HPS3):c.2887+15T>G	CP, HPS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2848470	NM_032383.5(HPS3):c.2796+7T>C	CP, HPS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2847076	NM_032383.5(HPS3):c.2735T>A (p.Leu912Ter)	CP, HPS3 (L912* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2843748	NM_032383.5(HPS3):c.2797-15T>A	CP, HPS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2843109	NM_032383.5(HPS3):c.2796+7T>A	CP, HPS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2841492	NM_032383.5(HPS3):c.2817G>T (p.Leu939=)	CP, HPS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2840926	NM_032383.5(HPS3):c.2482-7G>C	CP, HPS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2840720	NM_032383.5(HPS3):c.2888-12T>C	CP, HPS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2839843	NM_032383.5(HPS3):c.2421C>T (p.Ile807=)	CP, HPS3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2835987	NM_032383.5(HPS3):c.2797-19T>C	CP, HPS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2824672	NM_032383.5(HPS3):c.2546_2549del (p.Asp848_Ser849insTer)	CP, HPS3	Deletion (nonsense)	not provided	GPathogenic
Select item 2819845	NM_032383.5(HPS3):c.2590-2A>T	CP, HPS3	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2817354	NM_032383.5(HPS3):c.2706del (p.Glu903fs)	CP, HPS3 (E738fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2809422	NM_032383.5(HPS3):c.2888-4A>G	CP, HPS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2809003	NM_032383.5(HPS3):c.2505C>T (p.Gly835=)	CP, HPS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2803946	NM_032383.5(HPS3):c.2517A>G (p.Pro839=)	CP, HPS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2796101	NM_032383.5(HPS3):c.2461T>C (p.Leu821=)	CP, HPS3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2789971	NM_032383.5(HPS3):c.2433dup (p.Lys812Ter)	CP, HPS3 (K812* +1 more)	Duplication (nonsense +1 more)	not provided	GPathogenic
Select item 2787970	NM_032383.5(HPS3):c.2502T>C (p.Tyr834=)	CP, HPS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2778711	NM_032383.5(HPS3):c.2797-1G>A	HPS3, CP	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2773297	NM_032383.5(HPS3):c.2394C>G (p.Leu798=)	CP, HPS3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2772324	NM_032383.5(HPS3):c.2872C>T (p.Leu958=)	CP, HPS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2770662	NM_032383.5(HPS3):c.2757C>T (p.Val919=)	CP, HPS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2767970	NM_032383.5(HPS3):c.2391A>G (p.Glu797=)	CP, HPS3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2761142	NM_032383.5(HPS3):c.2589+20T>A	CP, HPS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2760515	NM_032383.5(HPS3):c.2751G>A (p.Glu917=)	CP, HPS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2750829	NM_032383.5(HPS3):c.2590-8G>A	CP, HPS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2736753	NM_032383.5(HPS3):c.2652A>G (p.Ser884=)	CP, HPS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2734493	NM_032383.5(HPS3):c.2293-9G>C	CP, HPS3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2730909	NM_032383.5(HPS3):c.2797-11dup	CP, HPS3	Duplication (intron variant)	not provided	GBenign
Select item 2728580	NM_032383.5(HPS3):c.2589+14C>T	CP, HPS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2708834	NM_032383.5(HPS3):c.2490C>T (p.Ala830=)	CP, HPS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2708657	NM_032383.5(HPS3):c.2411C>G (p.Ser804Ter)	CP, HPS3 (S804* +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 2704054	NM_032383.5(HPS3):c.2589+18C>T	CP, HPS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2703966	NM_032383.5(HPS3):c.2322T>A (p.Ile774=)	CP, HPS3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2694742	NM_032383.5(HPS3):c.2482-7del	CP, HPS3	Deletion (intron variant)	not provided	GLikely benign
Select item 2694418	NM_032383.5(HPS3):c.2577T>G (p.Leu859=)	CP, HPS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2676112	NM_032383.5(HPS3):c.1678del (p.Asp560fs)	HPS3 (D395fs +1 more)	Deletion (frameshift variant)	Hermansky-Pudlak syndrome 3	GLikely pathogenic
Select item 2676111	NM_032383.5(HPS3):c.2134G>T (p.Glu712Ter)	HPS3 (E547* +1 more)	Single nucleotide variant (nonsense)	Hermansky-Pudlak syndrome 3	GLikely pathogenic
Select item 2676110	NM_032383.5(HPS3):c.869_870del (p.Gln290fs)	HPS3 (Q125fs +1 more)	Deletion (frameshift variant)	Hermansky-Pudlak syndrome 3	GLikely pathogenic
Select item 2676109	NM_032383.5(HPS3):c.2887+1G>A	CP, HPS3	Single nucleotide variant (splice donor variant)	Hermansky-Pudlak syndrome 3	GLikely pathogenic
Select item 2676108	NM_032383.5(HPS3):c.2182G>T (p.Glu728Ter)	HPS3 (E563* +1 more)	Single nucleotide variant (nonsense)	Hermansky-Pudlak syndrome 3	GLikely pathogenic
Select item 2676105	NM_032383.5(HPS3):c.1055del (p.Gly352fs)	HPS3 (G187fs +1 more)	Deletion (frameshift variant)	Hermansky-Pudlak syndrome 3	GLikely pathogenic
Select item 2676104	NM_032383.5(HPS3):c.1824_1825del (p.Phe608fs)	HPS3 (F443fs +1 more)	Deletion (frameshift variant)	Hermansky-Pudlak syndrome 3	GLikely pathogenic
Select item 2676103	NM_032383.5(HPS3):c.868C>T (p.Gln290Ter)	HPS3 (Q125* +1 more)	Single nucleotide variant (nonsense)	Hermansky-Pudlak syndrome 3	GPathogenic
Select item 2676102	NM_032383.5(HPS3):c.207C>A (p.Tyr69Ter)	HPS3 (Y69*)	Single nucleotide variant (nonsense)	Hermansky-Pudlak syndrome 3	GLikely pathogenic
Select item 2676101	NM_032383.5(HPS3):c.496_497dup (p.Asn167fs)	HPS3 (N167fs)	Duplication (frameshift variant +1 more)	Hermansky-Pudlak syndrome 3	GLikely pathogenic
Select item 2676100	NM_032383.5(HPS3):c.324dup (p.Ile109fs)	HPS3 (I109fs)	Duplication (frameshift variant +1 more)	Hermansky-Pudlak syndrome 3	GLikely pathogenic
Select item 2676099	NM_032383.5(HPS3):c.1249del (p.Cys417fs)	HPS3 (C252fs +1 more)	Deletion (frameshift variant)	Hermansky-Pudlak syndrome 3	GLikely pathogenic
Select item 2676098	NM_032383.5(HPS3):c.1120C>T (p.Gln374Ter)	HPS3 (Q209* +1 more)	Single nucleotide variant (nonsense)	Hermansky-Pudlak syndrome 3	GLikely pathogenic
Select item 2676096	NM_032383.5(HPS3):c.2650del (p.Ser884fs)	CP, HPS3 (S719fs +1 more)	Deletion (frameshift variant)	Hermansky-Pudlak syndrome 3	GLikely pathogenic
Select item 2676095	NM_032383.5(HPS3):c.371del (p.Gln124fs)	HPS3 (Q124fs)	Deletion (frameshift variant +1 more)	Hermansky-Pudlak syndrome 3	GLikely pathogenic
Select item 2676094	NM_032383.5(HPS3):c.706G>T (p.Glu236Ter)	HPS3 (E236*)	Single nucleotide variant (nonsense +1 more)	Hermansky-Pudlak syndrome 3	GLikely pathogenic
Select item 2676093	NM_032383.5(HPS3):c.1291del (p.Leu431fs)	HPS3 (L266fs +1 more)	Deletion (frameshift variant)	Hermansky-Pudlak syndrome 3	GPathogenic
Select item 2676092	NM_032383.5(HPS3):c.1175del (p.Gln392fs)	HPS3 (Q227fs +1 more)	Deletion (frameshift variant)	Hermansky-Pudlak syndrome 3	GLikely pathogenic
Select item 2676090	NM_032383.5(HPS3):c.2440C>T (p.Gln814Ter)	CP, HPS3 (Q649* +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hermansky-Pudlak syndrome 3	GLikely pathogenic
Select item 2676089	NM_032383.5(HPS3):c.219del (p.Asp74fs)	HPS3 (D74fs)	Deletion (frameshift variant +1 more)	Hermansky-Pudlak syndrome 3	GLikely pathogenic
Select item 2676087	NM_032383.5(HPS3):c.2194dup (p.His732fs)	HPS3 (H567fs +1 more)	Duplication (frameshift variant)	Hermansky-Pudlak syndrome 3	GLikely pathogenic
Select item 2676086	NM_032383.5(HPS3):c.658dup (p.Arg220fs)	HPS3 (R220fs)	Duplication (frameshift variant +1 more)	Hermansky-Pudlak syndrome 3	GLikely pathogenic
Select item 2676085	NM_032383.5(HPS3):c.2155C>T (p.Gln719Ter)	HPS3 (Q554* +1 more)	Single nucleotide variant (nonsense)	Hermansky-Pudlak syndrome 3	GLikely pathogenic
Select item 2676084	NM_032383.5(HPS3):c.2289del (p.Phe763fs)	HPS3 (F598fs +1 more)	Deletion (frameshift variant)	Hermansky-Pudlak syndrome 3	GLikely pathogenic
Select item 2676082	NM_032383.5(HPS3):c.2507T>G (p.Leu836Ter)	HPS3, CP (L671* +1 more)	Single nucleotide variant (nonsense)	Hermansky-Pudlak syndrome 3	GLikely pathogenic
Select item 2676081	NM_032383.5(HPS3):c.745_746del (p.Ser248_Asp249insTer)	HPS3	Deletion (nonsense)	Hermansky-Pudlak syndrome 3	GLikely pathogenic
Select item 2676080	NM_032383.5(HPS3):c.2871C>A (p.Tyr957Ter)	CP, HPS3 (Y792* +1 more)	Single nucleotide variant (nonsense)	Hermansky-Pudlak syndrome 3	GLikely pathogenic
Select item 2676079	NM_032383.5(HPS3):c.2808G>A (p.Trp936Ter)	CP, HPS3 (W771* +1 more)	Single nucleotide variant (nonsense)	Hermansky-Pudlak syndrome 3	GLikely pathogenic
Select item 2676077	NM_032383.5(HPS3):c.1246dup	HPS3	Duplication	Hermansky-Pudlak syndrome 3	GLikely pathogenic
Select item 2676076	NM_032383.5(HPS3):c.1660del (p.Ser554fs)	HPS3 (S389fs +1 more)	Deletion (frameshift variant)	Hermansky-Pudlak syndrome 3	GLikely pathogenic
Select item 2676075	NM_032383.5(HPS3):c.87del (p.Arg30fs)	HPS3 (R30fs)	Deletion (frameshift variant)	Hermansky-Pudlak syndrome 3	GLikely pathogenic
Select item 2676073	NM_032383.5(HPS3):c.145C>T (p.Gln49Ter)	HPS3 (Q49*)	Single nucleotide variant (nonsense)	Hermansky-Pudlak syndrome 3	GLikely pathogenic
Select item 2676072	NM_032383.5(HPS3):c.2423G>A (p.Trp808Ter)	CP, HPS3 (W643* +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hermansky-Pudlak syndrome 3	GLikely pathogenic
Select item 2676071	NM_032383.5(HPS3):c.904dup (p.Ser302fs)	HPS3 (S137fs +1 more)	Duplication (frameshift variant)	Hermansky-Pudlak syndrome 3	GLikely pathogenic
Select item 2676070	NM_032383.5(HPS3):c.1123C>T (p.Gln375Ter)	HPS3 (Q210* +1 more)	Single nucleotide variant (nonsense)	Hermansky-Pudlak syndrome 3	GLikely pathogenic

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