Related gene-specific medical variations for Gene (Select 1356) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3377064	NM_032383.5(HPS3):c.2424G>A (p.Trp808Ter)	CP, HPS3 (W643* +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hermansky-Pudlak syndrome 3	GPathogenic
Select item 3360128	NM_000096.4(CP):c.70T>C (p.Tyr24His)	CP (Y24H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3284729	NM_032383.5(HPS3):c.2824G>A (p.Glu942Lys)	CP, HPS3 (E777K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3284727	NM_032383.5(HPS3):c.2312A>G (p.Glu771Gly)	CP, HPS3 (E606G +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3246875	NC_000003.11:g.(?_148939414)_(148939579_?)del	CP	Deletion	Deficiency of ferroxidase	GPathogenic
Select item 3241753	NM_032383.5(HPS3):c.2766T>G (p.Tyr922Ter)	CP, HPS3 (Y757* +1 more)	Single nucleotide variant (nonsense)	Hermansky-Pudlak syndrome 3	GPathogenic
Select item 3241751	NM_032383.5(HPS3):c.2766del (p.Pro921_Tyr922insTer)	CP, HPS3	Deletion (nonsense)	Hermansky-Pudlak syndrome 3	GLikely pathogenic
Select item 3241749	NM_032383.5(HPS3):c.2813_2814del (p.Lys938fs)	CP, HPS3 (K773fs +1 more)	Deletion (frameshift variant)	Hermansky-Pudlak syndrome 3	GLikely pathogenic
Select item 3241745	NM_032383.5(HPS3):c.2372_2373del (p.Pro791fs)	CP, HPS3 (P626fs +1 more)	Deletion (non-coding transcript variant +1 more)	Hermansky-Pudlak syndrome 3	GLikely pathogenic
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=)	CP, HPS3	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	HPS3, CP	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=)	CP, HPS3	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)	HPS3, CP (K812* +1 more)	Duplication (non-coding transcript variant +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	CP, HPS3	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=)	HPS3, CP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 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 2676080	NM_032383.5(HPS3):c.2871C>A (p.Tyr957Ter)	CP, HPS3 (Y792* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
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 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 2676066	NM_032383.5(HPS3):c.2788G>T (p.Glu930Ter)	CP, HPS3 (E765* +1 more)	Single nucleotide variant (nonsense)	Hermansky-Pudlak syndrome 3	GLikely pathogenic
Select item 2664041	NM_032383.5(HPS3):c.3011C>T (p.Thr1004Ile)	CP, HPS3 (T1004I +1 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 3	GUncertain significance
Select item 2501269	NM_032383.5(HPS3):c.2788_2792del (p.Glu930fs)	CP, HPS3 (E765fs +1 more)	Deletion (frameshift variant)	Hermansky-Pudlak syndrome	GLikely pathogenic
Select item 2402479	NM_032383.5(HPS3):c.2983C>G (p.Leu995Val)	CP, HPS3 (L830V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2316037	NM_032383.5(HPS3):c.2987A>G (p.Tyr996Cys)	CP, HPS3 (Y996C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2281549	NM_032383.5(HPS3):c.2639T>C (p.Leu880Ser)	CP, HPS3 (L715S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2218748	NM_032383.5(HPS3):c.2698C>T (p.Arg900Cys)	CP, HPS3 (R900C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2201957	NM_032383.5(HPS3):c.2899A>G (p.Ile967Val)	CP, HPS3 (I802V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2182724	NM_032383.5(HPS3):c.2887+17_2887+18insG	CP, HPS3	Insertion (intron variant)	not provided	GLikely benign
Select item 2181737	NM_032383.5(HPS3):c.2846G>A (p.Cys949Tyr)	CP, HPS3 (C949Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2177365	NM_032383.5(HPS3):c.2744_2745delinsAT (p.Cys915Tyr)	CP, HPS3 (C915Y +1 more)	Indel (missense variant)	not provided	GUncertain significance
Select item 2174723	NM_032383.5(HPS3):c.2722A>G (p.Ile908Val)	CP, HPS3 (I908V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2171126	NM_032383.5(HPS3):c.2333T>C (p.Leu778Ser)	CP, HPS3 (L778S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2166454	NM_032383.5(HPS3):c.2722A>C (p.Ile908Leu)	CP, HPS3 (I743L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2159260	NM_032383.5(HPS3):c.2408C>T (p.Thr803Ile)	HPS3, CP (T638I +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2158445	NM_032383.5(HPS3):c.2935A>C (p.Asn979His)	CP, HPS3 (N814H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2156442	NM_032383.5(HPS3):c.2938G>A (p.Val980Ile)	CP, HPS3 (V815I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2151001	NM_032383.5(HPS3):c.2887+6A>G	CP, HPS3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2148728	NM_032383.5(HPS3):c.2910G>A (p.Val970=)	CP, HPS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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