ClinVar for MedGen (Select 374912) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3728833	NM_003664.5(AP3B1):c.661C>T (p.Leu221=)	AP3B1	Single nucleotide variant (synonymous variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 3728745	NM_003664.5(AP3B1):c.1040+16A>T	AP3B1	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 3728621	NM_003664.5(AP3B1):c.1379A>T (p.Glu460Val)	AP3B1 (E460V +1 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 2	GUncertain significance
Select item 3725675	NM_003664.5(AP3B1):c.2899A>G (p.Lys967Glu)	AP3B1 (K967E +1 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 2	GUncertain significance
Select item 3725027	NM_003664.5(AP3B1):c.2796T>C (p.Val932=)	AP3B1	Single nucleotide variant (synonymous variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 3723882	NM_003664.5(AP3B1):c.649G>A (p.Asp217Asn)	AP3B1 (D217N +1 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 2	GUncertain significance
Select item 3723254	NM_003664.5(AP3B1):c.1041-2A>G	AP3B1	Single nucleotide variant (splice acceptor variant)	Hermansky-Pudlak syndrome 2	GLikely pathogenic
Select item 3722562	NM_003664.5(AP3B1):c.2454T>G (p.Leu818=)	AP3B1	Single nucleotide variant (synonymous variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 3721934	NM_003664.5(AP3B1):c.3117G>C (p.Gln1039His)	AP3B1 (Q990H +1 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 2	GUncertain significance
Select item 3714694	NM_003664.5(AP3B1):c.1302C>T (p.Asn434=)	AP3B1	Single nucleotide variant (synonymous variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 3714439	NM_003664.5(AP3B1):c.1026A>G (p.Leu342=)	AP3B1	Single nucleotide variant (synonymous variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 3707498	NM_003664.5(AP3B1):c.279+9T>A	AP3B1	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 3704270	NM_003664.5(AP3B1):c.415C>T (p.Leu139=)	AP3B1	Single nucleotide variant (synonymous variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 3704186	NM_003664.5(AP3B1):c.2336C>T (p.Ser779Phe)	AP3B1 (S730F +1 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 2	GUncertain significance
Select item 3703636	NM_003664.5(AP3B1):c.2131G>A (p.Asp711Asn)	AP3B1 (D711N +1 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 2	GUncertain significance
Select item 3702949	NM_003664.5(AP3B1):c.1969-15T>C	AP3B1	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 3701934	NM_003664.5(AP3B1):c.204+13C>T	AP3B1	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 3699973	NM_003664.5(AP3B1):c.2078-14G>A	AP3B1	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 3698672	NM_003664.5(AP3B1):c.1098G>C (p.Gly366=)	AP3B1	Single nucleotide variant (synonymous variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 3696676	NM_003664.5(AP3B1):c.2993-14T>G	AP3B1	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 3696675	NM_003664.5(AP3B1):c.2993-10_2993-7del	AP3B1	Deletion (intron variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 3696477	NM_003664.5(AP3B1):c.1584A>G (p.Glu528=)	AP3B1	Single nucleotide variant (synonymous variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 3695671	NM_003664.5(AP3B1):c.2895-16G>A	AP3B1	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 3695413	NM_003664.5(AP3B1):c.1111T>C (p.Tyr371His)	AP3B1 (Y322H +1 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 2	GUncertain significance
Select item 3692481	NM_003664.5(AP3B1):c.3075G>A (p.Lys1025=)	AP3B1	Single nucleotide variant (synonymous variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 3691782	NM_003664.5(AP3B1):c.604-12T>A	AP3B1	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 3690751	NM_003664.5(AP3B1):c.3159G>A (p.Gly1053=)	AP3B1	Single nucleotide variant (synonymous variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 3689348	NM_003664.5(AP3B1):c.1080G>A (p.Met360Ile)	AP3B1 (M311I +1 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 2	GUncertain significance
Select item 3689171	NM_003664.5(AP3B1):c.2604G>A (p.Thr868=)	AP3B1	Single nucleotide variant (synonymous variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 3688643	NM_003664.5(AP3B1):c.1040+15T>G	AP3B1	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 3687952	NM_003664.5(AP3B1):c.375+11G>T	AP3B1	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 3685718	NM_003664.5(AP3B1):c.1088A>G (p.Gln363Arg)	AP3B1 (Q314R +1 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 2	GUncertain significance
Select item 3685446	NM_003664.5(AP3B1):c.3038C>T (p.Ala1013Val)	AP3B1 (A1013V +1 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 2	GUncertain significance
Select item 3684756	NM_003664.5(AP3B1):c.1837+7T>C	AP3B1	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 3683056	NM_003664.5(AP3B1):c.798A>G (p.Leu266=)	AP3B1	Single nucleotide variant (synonymous variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 3679742	NM_003664.5(AP3B1):c.544C>T (p.Pro182Ser)	AP3B1 (P133S +1 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 2	GUncertain significance
Select item 3679391	NM_003664.5(AP3B1):c.1095+7A>G	AP3B1	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 3678813	NM_003664.5(AP3B1):c.999C>T (p.Gly333=)	AP3B1	Single nucleotide variant (synonymous variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 3678113	NM_003664.5(AP3B1):c.201T>A (p.Val67=)	AP3B1	Single nucleotide variant (synonymous variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 3677947	NM_003664.5(AP3B1):c.1878C>A (p.Leu626=)	AP3B1	Single nucleotide variant (synonymous variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 3672606	NM_003664.5(AP3B1):c.2973A>G (p.Lys991=)	AP3B1	Single nucleotide variant (synonymous variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 3664544	NM_003664.5(AP3B1):c.1650+15T>A	AP3B1	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 3662718	NM_003664.5(AP3B1):c.1041-19A>G	AP3B1	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 3654281	NM_003664.5(AP3B1):c.943G>A (p.Val315Met)	AP3B1 (V315M +1 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 2	GUncertain significance
Select item 3653778	NM_003664.5(AP3B1):c.624dup (p.Met209fs)	AP3B1 (M160fs +1 more)	Duplication (frameshift variant)	Hermansky-Pudlak syndrome 2	GPathogenic
Select item 3652955	NM_003664.5(AP3B1):c.2809+8T>C	AP3B1	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 3648387	NM_003664.5(AP3B1):c.1473+16G>A	AP3B1	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 3632458	NM_003664.5(AP3B1):c.890A>G (p.His297Arg)	AP3B1 (H248R +1 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 2	GUncertain significance
Select item 3632074	NM_003664.5(AP3B1):c.2521A>G (p.Ser841Gly)	AP3B1 (S792G +1 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 2	GUncertain significance
Select item 3630645	NM_003664.5(AP3B1):c.1347G>C (p.Leu449=)	AP3B1	Single nucleotide variant (synonymous variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 3630146	NM_003664.5(AP3B1):c.2398-12G>A	AP3B1	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 3625679	NM_003664.5(AP3B1):c.2010T>C (p.Asn670=)	AP3B1	Single nucleotide variant (synonymous variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 3623422	NM_003664.5(AP3B1):c.2993-5T>C	AP3B1	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 3622565	NM_003664.5(AP3B1):c.1452C>T (p.Ala484=)	AP3B1	Single nucleotide variant (synonymous variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 3621540	NM_003664.5(AP3B1):c.2844A>T (p.Ser948=)	AP3B1	Single nucleotide variant (synonymous variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 3619475	NM_003664.5(AP3B1):c.1040+19T>C	AP3B1	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 3618022	NM_003664.5(AP3B1):c.1395A>G (p.Ile465Met)	AP3B1 (I416M +1 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 2	GUncertain significance
Select item 3616355	NM_003664.5(AP3B1):c.2602A>G (p.Thr868Ala)	AP3B1 (T819A +1 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 2	GUncertain significance
Select item 3615369	NM_003664.5(AP3B1):c.2331C>T (p.Asp777=)	AP3B1	Single nucleotide variant (synonymous variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 3614645	NM_003664.5(AP3B1):c.2166T>C (p.Ser722=)	AP3B1	Single nucleotide variant (synonymous variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 3612602	NM_003664.5(AP3B1):c.3092A>G (p.Asn1031Ser)	AP3B1 (N1031S +1 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 2	GUncertain significance
Select item 3607012	NM_003664.5(AP3B1):c.2806A>G (p.Ile936Val)	AP3B1 (I887V +1 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 2	GUncertain significance
Select item 3606425	NM_003664.5(AP3B1):c.3171A>G (p.Leu1057=)	AP3B1	Single nucleotide variant (synonymous variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 3592767	NM_003664.5(AP3B1):c.3149_3150del (p.Val1050fs)	AP3B1 (V1001fs +1 more)	Microsatellite (frameshift variant)	Hermansky-Pudlak syndrome 2	GLikely pathogenic
Select item 3374978	NM_003664.5(AP3B1):c.2009A>G (p.Asn670Ser)	AP3B1 (N621S +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3246334	NC_000005.9:g.(?_77590256)_(77590403_?)del	AP3B1	Deletion	Hermansky-Pudlak syndrome 2	GPathogenic
Select item 3242412	NM_003664.5(AP3B1):c.395G>C (p.Arg132Pro)	AP3B1 (R132P +1 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 2	GLikely pathogenic
Select item 3239765	NM_003664.5(AP3B1):c.3015_3016dup (p.Thr1006fs)	AP3B1 (T1006fs +1 more)	Duplication (frameshift variant)	Hermansky-Pudlak syndrome 2	GPathogenic/Likely pathogenic
Select item 3239764	NM_003664.5(AP3B1):c.1379_1382dup (p.Ser461fs)	AP3B1 (S412fs +1 more)	Duplication (frameshift variant)	Hermansky-Pudlak syndrome 2	GLikely pathogenic
Select item 3022273	NM_003664.5(AP3B1):c.1762G>A (p.Gly588Arg)	AP3B1 (G539R +1 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 2	GUncertain significance
Select item 3021908	NM_003664.5(AP3B1):c.681C>G (p.Arg227=)	AP3B1	Single nucleotide variant (synonymous variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 3021279	NM_003664.5(AP3B1):c.3201A>T (p.Thr1067=)	AP3B1	Single nucleotide variant (synonymous variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 3018768	NM_003664.5(AP3B1):c.129-18del	AP3B1	Deletion (intron variant)	Hermansky-Pudlak syndrome 2	GBenign
Select item 3018000	NM_003664.5(AP3B1):c.1734G>A (p.Arg578=)	AP3B1	Single nucleotide variant (synonymous variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 3017485	NM_003664.5(AP3B1):c.1838-16T>C	AP3B1	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 3016639	NM_003664.5(AP3B1):c.128+4A>G	AP3B1	Single nucleotide variant (5 prime UTR variant +1 more)	Hermansky-Pudlak syndrome 2	GUncertain significance
Select item 3011808	NM_003664.5(AP3B1):c.2398-16A>G	AP3B1	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 3010920	NM_003664.5(AP3B1):c.2607A>G (p.Lys869=)	AP3B1	Single nucleotide variant (synonymous variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 3005636	NM_003664.5(AP3B1):c.1230+13T>C	AP3B1	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 3000771	NM_003664.5(AP3B1):c.1040+17T>G	AP3B1	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 2998371	NM_003664.5(AP3B1):c.376-11A>C	AP3B1	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 2988904	NM_003664.5(AP3B1):c.3000A>G (p.Leu1000=)	AP3B1	Single nucleotide variant (synonymous variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 2986336	NM_003664.5(AP3B1):c.2077+18T>C	AP3B1	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 2983891	NM_003664.5(AP3B1):c.1914T>C (p.Asn638=)	AP3B1	Single nucleotide variant (synonymous variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 2976536	NM_003664.5(AP3B1):c.2470+9dup	AP3B1	Duplication (intron variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 2969568	NM_003664.5(AP3B1):c.1230+12G>A	AP3B1	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 2967974	NM_003664.5(AP3B1):c.1245C>T (p.Ser415=)	AP3B1	Single nucleotide variant (synonymous variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 2959031	NM_003664.5(AP3B1):c.1095+17C>G	AP3B1	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 2958774	NM_003664.5(AP3B1):c.3282G>A (p.Gly1094=)	AP3B1	Single nucleotide variant (synonymous variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 2957836	NM_003664.5(AP3B1):c.786+15G>A	AP3B1	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 2956030	NM_003664.5(AP3B1):c.1929G>T (p.Ala643=)	AP3B1	Single nucleotide variant (synonymous variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 2918765	NM_003664.5(AP3B1):c.1838-13C>G	AP3B1	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 2917280	NM_003664.5(AP3B1):c.279+18A>G	AP3B1	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 2917035	NM_003664.5(AP3B1):c.1935C>T (p.Asp645=)	AP3B1	Single nucleotide variant (synonymous variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 2915884	NM_003664.5(AP3B1):c.2810-9A>G	AP3B1	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 2913974	NM_003664.5(AP3B1):c.942+17A>T	AP3B1	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 2912814	NM_003664.5(AP3B1):c.2455C>T (p.Leu819=)	AP3B1	Single nucleotide variant (synonymous variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 2912341	NM_003664.5(AP3B1):c.1350G>C (p.Leu450=)	AP3B1	Single nucleotide variant (synonymous variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 2909708	NM_003664.5(AP3B1):c.1091_1092delinsAT (p.Arg364Asn)	AP3B1 (R315N +1 more)	Indel (missense variant)	Hermansky-Pudlak syndrome 2	GUncertain significance
Select item 2907683	NM_003664.5(AP3B1):c.1347G>A (p.Leu449=)	AP3B1	Single nucleotide variant (synonymous variant)	Hermansky-Pudlak syndrome 2	GLikely benign

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