ClinVar for Gene (Select 84343) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3379502	NM_032383.5(HPS3):c.224A>T (p.Tyr75Phe)	HPS3 (Y75F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3377068	NM_032383.5(HPS3):c.272A>C (p.Tyr91Ser)	HPS3 (Y91S)	Single nucleotide variant (missense variant +1 more)	Hermansky-Pudlak syndrome 3	GUncertain significance
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 3372594	NM_032383.5(HPS3):c.1274G>A (p.Cys425Tyr)	HPS3 (C260Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362539	NM_032383.5(HPS3):c.1153_1160del (p.Val385fs)	HPS3 (V220fs +1 more)	Deletion (frameshift variant)	Hermansky-Pudlak syndrome 3	GLikely pathogenic
Select item 3350814	NM_032383.5(HPS3):c.448G>T (p.Val150Phe)	HPS3 (V150F)	Single nucleotide variant (missense variant +1 more)	HPS3-related disorder	GUncertain significance
Select item 3339454	NM_032383.5(HPS3):c.449T>A (p.Val150Asp)	HPS3 (V150D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3339160	NM_032383.5(HPS3):c.2290A>C (p.Lys764Gln)	HPS3 (K599Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3339045	NM_032383.5(HPS3):c.142G>C (p.Gly48Arg)	HPS3 (G48R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3336489	NM_032383.5(HPS3):c.1211G>A (p.Arg404His)	HPS3 (R239H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284730	NM_032383.5(HPS3):c.1312A>G (p.Ile438Val)	HPS3 (I438V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3284728	NM_032383.5(HPS3):c.208A>G (p.Ser70Gly)	HPS3 (S70G)	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 3247051	NC_000003.11:g.(?_148856983)_(148858810_?)del	HPS3	Deletion	not provided	GLikely pathogenic
Select item 3247050	NC_000003.11:g.(?_148838832)_(148847724_?)del	HPS3	Deletion	not provided	GPathogenic
Select item 3247048	NC_000003.11:g.(?_148857771)_(148873022_?)dup	HPS3	Duplication	not provided	GLikely pathogenic
Select item 3247047	NC_000003.11:g.(?_148847501)_(148888270_?)del	CP, HPS3	Deletion	not provided	GPathogenic
Select item 3247046	NC_000003.11:g.(?_148872874)_(148873022_?)del	HPS3	Deletion	not provided	GPathogenic
Select item 3247045	NC_000003.11:g.(?_148868366)_(148868487_?)del	HPS3	Deletion	not provided	GPathogenic
Select item 3246876	NC_000003.11:g.(?_148888289)_(148904456_?)del	CP, HPS3	Deletion	Deficiency of ferroxidase	GLikely pathogenic
Select item 3246874	NC_000003.11:g.(?_148447967)_(149678891_?)del	AGTR1, ANKUB1 +12 more	Deletion	Deficiency of ferroxidase	GPathogenic
Select item 3241755	NM_032383.5(HPS3):c.1179T>A (p.Cys393Ter)	HPS3 (C228* +1 more)	Single nucleotide variant (nonsense)	Hermansky-Pudlak syndrome 3	GLikely pathogenic
Select item 3241754	NM_032383.5(HPS3):c.1154del (p.Val385fs)	HPS3 (V220fs +1 more)	Deletion (frameshift variant)	Hermansky-Pudlak syndrome 3	GLikely pathogenic
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 3241752	NM_032383.5(HPS3):c.970+1G>A	HPS3	Single nucleotide variant (splice donor variant)	Hermansky-Pudlak syndrome 3	GLikely pathogenic
Select item 3241751	NM_032383.5(HPS3):c.2766del (p.Pro921_Tyr922insTer)	CP, HPS3	Deletion (nonsense)	Hermansky-Pudlak syndrome 3	GLikely pathogenic
Select item 3241750	NM_032383.5(HPS3):c.995dup (p.Asn332fs)	HPS3 (N167fs +1 more)	Duplication (frameshift variant)	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 3241747	NM_032383.5(HPS3):c.1102C>T (p.Gln368Ter)	HPS3 (Q203* +1 more)	Single nucleotide variant (nonsense)	Hermansky-Pudlak syndrome 3	GLikely pathogenic
Select item 3241746	NM_032383.5(HPS3):c.502G>T (p.Glu168Ter)	HPS3 (E168*)	Single nucleotide variant (nonsense +1 more)	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 3241744	NM_032383.5(HPS3):c.1500C>A (p.Tyr500Ter)	HPS3 (Y335* +1 more)	Single nucleotide variant (nonsense)	Hermansky-Pudlak syndrome 3	GLikely pathogenic
Select item 3106839	NM_032383.5(HPS3):c.932A>G (p.Lys311Arg)	HPS3 (K146R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3106838	NM_032383.5(HPS3):c.892G>C (p.Ala298Pro)	HPS3 (A133P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3106837	NM_032383.5(HPS3):c.530G>A (p.Arg177His)	HPS3 (R177H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3106836	NM_032383.5(HPS3):c.425G>T (p.Cys142Phe)	HPS3 (C142F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3106835	NM_032383.5(HPS3):c.386A>C (p.Glu129Ala)	HPS3 (E129A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3106834	NM_032383.5(HPS3):c.344G>T (p.Gly115Val)	HPS3 (G115V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 3106831	NM_032383.5(HPS3):c.2244G>T (p.Leu748Phe)	HPS3 (L583F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3106830	NM_032383.5(HPS3):c.2033T>G (p.Leu678Trp)	HPS3 (L513W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3106829	NM_032383.5(HPS3):c.1868A>G (p.Asn623Ser)	HPS3 (N623S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3106828	NM_032383.5(HPS3):c.1700C>T (p.Ser567Phe)	HPS3 (S402F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3106827	NM_032383.5(HPS3):c.1172T>C (p.Leu391Pro)	HPS3 (L391P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3033362	NM_032383.5(HPS3):c.2245C>T (p.Gln749Ter)	HPS3 (Q584* +1 more)	Single nucleotide variant (nonsense)	HPS3-related disorder	GLikely pathogenic
Select item 3030086	NM_032383.5(HPS3):c.132C>T (p.Phe44=)	HPS3	Single nucleotide variant (synonymous variant)	HPS3-related disorder	GLikely benign
Select item 3019714	NM_032383.5(HPS3):c.713-18A>G	HPS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3018214	NM_032383.5(HPS3):c.1164-18C>T	HPS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 3013147	NM_032383.5(HPS3):c.884+19T>G	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 3009918	NM_032383.5(HPS3):c.177C>T (p.Ser59=)	HPS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3009793	NM_032383.5(HPS3):c.2279A>G (p.Asp760Gly)	HPS3 (D595G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3009060	NM_032383.5(HPS3):c.297T>C (p.Thr99=)	HPS3	Single nucleotide variant (synonymous variant +1 more)	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 3005539	NM_032383.5(HPS3):c.1280dup (p.Leu427fs)	HPS3 (L262fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 3005410	NM_032383.5(HPS3):c.1018C>T (p.Leu340=)	HPS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3004269	NM_032383.5(HPS3):c.165G>A (p.Arg55=)	HPS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3002780	NM_032383.5(HPS3):c.30C>T (p.Phe10=)	HPS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3001189	NM_032383.5(HPS3):c.2481+12G>A	CP, HPS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2996396	NM_032383.5(HPS3):c.1401-18C>T	HPS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2994870	NM_032383.5(HPS3):c.2018C>A (p.Ser673Ter)	HPS3 (S508* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2994388	NM_032383.5(HPS3):c.989del (p.Gly330fs)	HPS3 (G330fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2993044	NM_032383.5(HPS3):c.970+11C>T	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 2992338	NM_032383.5(HPS3):c.2292+13G>C	HPS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2992279	NM_032383.5(HPS3):c.817dup (p.Thr273fs)	HPS3 (T108fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2992241	NM_032383.5(HPS3):c.1246-16G>A	HPS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2988518	NM_032383.5(HPS3):c.1246-19T>C	HPS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2987548	NM_032383.5(HPS3):c.1163+17A>G	HPS3	Single nucleotide variant (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 2986967	NM_032383.5(HPS3):c.1245+15A>G	HPS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2986604	NM_032383.5(HPS3):c.970+17A>C	HPS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2983396	NM_032383.5(HPS3):c.2107-12T>C	HPS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2979859	NM_032383.5(HPS3):c.1050T>C (p.His350=)	HPS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2976323	NM_032383.5(HPS3):c.2019G>A (p.Ser673=)	HPS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2975697	NM_032383.5(HPS3):c.1873-16T>C	HPS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2972037	NM_032383.5(HPS3):c.885-4A>T	HPS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2971447	NM_032383.5(HPS3):c.87dup (p.Arg30fs)	HPS3 (R30fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2971166	NM_032383.5(HPS3):c.70C>T (p.Arg24Trp)	HPS3 (R24W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2969349	NM_032383.5(HPS3):c.1163+20T>A	HPS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2968596	NM_032383.5(HPS3):c.217+7A>C	HPS3	Single nucleotide variant (intron 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 2964312	NM_032383.5(HPS3):c.217+18C>G	HPS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2963910	NM_032383.5(HPS3):c.2256C>T (p.Asn752=)	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 2957982	NM_032383.5(HPS3):c.772C>T (p.Leu258=)	HPS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2957234	NM_032383.5(HPS3):c.970+15G>A	HPS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2957128	NM_032383.5(HPS3):c.970+19G>A	HPS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2955552	NM_032383.5(HPS3):c.2107-15C>G	HPS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2954780	NM_032383.5(HPS3):c.2019G>T (p.Ser673=)	HPS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2918120	NM_032383.5(HPS3):c.2292+12T>C	HPS3	Single nucleotide variant (intron variant)	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 2915590	NM_032383.5(HPS3):c.1400+17C>T	HPS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2915589	NM_032383.5(HPS3):c.1400+15G>A	HPS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2909951	NM_032383.5(HPS3):c.402G>A (p.Glu134=)	HPS3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign

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