2295[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 149077	GRCh38/hg38 3q22.2-25.1(chr3:134257180-149729538)x1	LOC129937630, LOC129937631 +320 more	Copy number loss	See cases	GPathogenic
Select item 57982	GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3	LOC129937936, LOC129937937 +631 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	LOC123453201, LOC123453202 +1450 more	Copy number gain	See cases	GPathogenic
Select item 155242	GRCh38/hg38 3q24-25.1(chr3:149137353-149419900)x1	CP, HPS3 +9 more	Copy number loss	See cases	GUncertain significance
Select item 1268637	NM_032383.5(HPS3):c.2292+111_2292+112del	CP, HPS3	Deletion (non-coding transcript variant +1 more)	not provided	GBenign
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 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 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 2036321	NM_032383.5(HPS3):c.2293-5_2299del	CP, HPS3	Deletion (non-coding transcript variant +1 more)	not provided	GLikely pathogenic
Select item 1478743	NM_032383.5(HPS3):c.2293-1G>A	CP, HPS3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely pathogenic
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 1661181	NM_032383.5(HPS3):c.2313A>G (p.Glu771=)	CP, HPS3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
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 798464	NM_032383.5(HPS3):c.2316T>C (p.Asp772=)	CP, HPS3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1359726	NM_032383.5(HPS3):c.2318del (p.Thr773fs)	CP, HPS3 (T608fs +1 more)	Deletion (non-coding transcript variant +1 more)	not provided	GPathogenic
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 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 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 1449318	NM_032383.5(HPS3):c.2343_2344del (p.Phe781fs)	CP, HPS3 (F616fs +1 more)	Deletion (non-coding transcript variant +1 more)	Hermansky-Pudlak syndrome 3 +1 more	GPathogenic/Likely pathogenic
Select item 1463689	NM_032383.5(HPS3):c.2342T>C (p.Phe781Ser)	CP, HPS3 (F616S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1642583	NM_032383.5(HPS3):c.2355G>A (p.Gln785=)	CP, HPS3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1542923	NM_032383.5(HPS3):c.2361G>A (p.Val787=)	CP, HPS3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 742454	NM_032383.5(HPS3):c.2364A>G (p.Ala788=)	CP, HPS3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 991442	NM_032383.5(HPS3):c.2370C>G (p.Leu790=)	CP, HPS3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
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 723417	NM_032383.5(HPS3):c.2378T>C (p.Val793Ala)	CP, HPS3 (V628A +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1725581	NM_032383.5(HPS3):c.2380del (p.Val794fs)	CP, HPS3 (V629fs +1 more)	Deletion (non-coding transcript variant +1 more)	Hermansky-Pudlak syndrome 3	GLikely pathogenic
Select item 1103546	NM_032383.5(HPS3):c.2379G>T (p.Val793=)	CP, HPS3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1002066	NM_032383.5(HPS3):c.2387A>G (p.Gln796Arg)	CP, HPS3 (Q631R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
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 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 1070217	NM_032383.5(HPS3):c.2399dup (p.Lys801fs)	CP, HPS3 (K636fs +1 more)	Duplication (non-coding transcript variant +1 more)	not provided	GPathogenic
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 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 1429480	NM_032383.5(HPS3):c.2411C>T (p.Ser804Leu)	CP, HPS3 (S639L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2129295	NM_032383.5(HPS3):c.2419A>G (p.Ile807Val)	CP, HPS3 (I807V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1385691	NM_032383.5(HPS3):c.2419A>C (p.Ile807Leu)	CP, HPS3 (I642L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
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 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 1964579	NM_032383.5(HPS3):c.2424del (p.Ile807_Trp808insTer)	CP, HPS3	Deletion (non-coding transcript variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1654191	NM_032383.5(HPS3):c.2428T>C (p.Leu810=)	CP, HPS3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1122752	NM_032383.5(HPS3):c.2430G>A (p.Leu810=)	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 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 1140041	NM_032383.5(HPS3):c.2442G>A (p.Gln814=)	CP, HPS3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1903961	NM_032383.5(HPS3):c.2443C>T (p.Pro815Ser)	CP, HPS3 (P650S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2146463	NM_032383.5(HPS3):c.2447C>T (p.Pro816Leu)	CP, HPS3 (P651L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1611184	NM_032383.5(HPS3):c.2451C>T (p.Asp817=)	CP, HPS3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 991443	NM_032383.5(HPS3):c.2459C>G (p.Pro820Arg)	CP, HPS3 (P655R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hermansky-Pudlak syndrome	GUncertain significance
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 627283	NM_032383.5(HPS3):c.2463dup (p.Arg822fs)	CP, HPS3 (R657fs +1 more)	Duplication (non-coding transcript variant +1 more)	Hermansky-Pudlak syndrome +2 more	GPathogenic/Likely pathogenic
Select item 2016733	NM_032383.5(HPS3):c.2464C>A (p.Arg822=)	CP, HPS3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 930923	NM_032383.5(HPS3):c.2464C>T (p.Arg822Ter)	CP, HPS3 (R822* +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hermansky-Pudlak syndrome 3 +1 more	GPathogenic
Select item 728608	NM_032383.5(HPS3):c.2469A>G (p.Thr823=)	CP, HPS3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 2064235	NM_032383.5(HPS3):c.2471C>T (p.Ser824Leu)	CP, HPS3 (S659L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 971795	NM_032383.5(HPS3):c.2471C>A (p.Ser824Ter)	CP, HPS3 (S659* +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1144799	NM_032383.5(HPS3):c.2472G>A (p.Ser824=)	CP, HPS3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GLikely benign
Select item 762990	NM_032383.5(HPS3):c.2479C>T (p.Leu827=)	CP, HPS3	Single nucleotide variant (synonymous 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 2146771	NM_032383.5(HPS3):c.2481+5G>A	CP, HPS3	Single nucleotide variant (intron 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 2904359	NM_032383.5(HPS3):c.2481+12G>T	CP, HPS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1287393	NM_032383.5(HPS3):c.2482-29T>G	CP, HPS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1169170	NM_032383.5(HPS3):c.2482-18A>C	CP, HPS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2890314	NM_032383.5(HPS3):c.2482-12T>C	CP, HPS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1086982	NM_032383.5(HPS3):c.2482-9A>G	HPS3, CP	Single nucleotide variant (intron 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 2694742	NM_032383.5(HPS3):c.2482-7del	CP, HPS3	Deletion (intron variant)	not provided	GLikely benign
Select item 1602191	NM_032383.5(HPS3):c.2482-7G>A	CP, HPS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 4611	NM_032383.5(HPS3):c.2482-2A>G	CP, HPS3	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic
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 1724454	NM_032383.5(HPS3):c.2491_2493delinsA (p.Cys831fs)	CP, HPS3 (C666fs +1 more)	Indel (frameshift variant)	Hermansky-Pudlak syndrome 3	GLikely pathogenic
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 2787970	NM_032383.5(HPS3):c.2502T>C (p.Tyr834=)	CP, HPS3	Single nucleotide variant (synonymous 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 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 2079630	NM_032383.5(HPS3):c.2509A>G (p.Ile837Val)	CP, HPS3 (I672V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1724891	NM_032383.5(HPS3):c.2510_2511insACTGTCTC (p.Tyr838fs)	CP, HPS3 (Y673fs +1 more)	Insertion (frameshift variant)	Hermansky-Pudlak syndrome 3	GLikely pathogenic
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 1724907	NM_032383.5(HPS3):c.2525_2526del (p.His842fs)	CP, HPS3 (H677fs +1 more)	Deletion (frameshift variant)	Hermansky-Pudlak syndrome 3	GLikely pathogenic
Select item 991444	NM_032383.5(HPS3):c.2524C>T (p.His842Tyr)	CP, HPS3 (H677Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1447300	NM_032383.5(HPS3):c.2526C>G (p.His842Gln)	CP, HPS3 (H677Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 163669	NM_032383.5(HPS3):c.2526C>T (p.His842=)	CP, HPS3	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 756752	NM_032383.5(HPS3):c.2527G>A (p.Val843Ile)	CP, HPS3 (V678I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1108234	NM_032383.5(HPS3):c.2529C>T (p.Val843=)	CP, HPS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1431565	NM_032383.5(HPS3):c.2530G>A (p.Val844Ile)	CP, HPS3 (V679I +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1726997	NM_032383.5(HPS3):c.2543_2552del (p.Asp848fs)	CP, HPS3 (D683fs +1 more)	Deletion (frameshift variant)	Hermansky-Pudlak syndrome 3	GLikely pathogenic
Select item 2824672	NM_032383.5(HPS3):c.2546_2549del (p.Asp848_Ser849insTer)	CP, HPS3	Deletion (nonsense)	not provided	GPathogenic
Select item 2147543	NM_032383.5(HPS3):c.2546C>T (p.Ser849Phe)	CP, HPS3 (S684F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1096680	NM_032383.5(HPS3):c.2553T>G (p.Ala851=)	CP, HPS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1129502	NM_032383.5(HPS3):c.2562T>C (p.Asn854=)	CP, HPS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1100151	NM_032383.5(HPS3):c.2565T>C (p.Tyr855=)	CP, HPS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1083851	NM_032383.5(HPS3):c.2571A>G (p.Glu857=)	CP, HPS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2110333	NM_032383.5(HPS3):c.2578del (p.Ser860fs)	CP, HPS3 (S695fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
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 1069806	NM_032383.5(HPS3):c.2587C>T (p.Gln863Ter)	CP, HPS3 (Q698* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1453955	NM_032383.5(HPS3):c.2589+1G>A	CP, HPS3	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 962603	NM_032383.5(HPS3):c.2589+1G>T	CP, HPS3	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 4612	NM_032383.5(HPS3):c.2589+1G>C	CP, HPS3	Single nucleotide variant (splice donor variant)	Hermansky-Pudlak syndrome 3 +1 more	GPathogenic

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