ClinVar for MedGen (Select 374912) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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	GLikely 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
Select item 2906790	NM_003664.5(AP3B1):c.2471-20A>G	AP3B1	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 2898837	NM_003664.5(AP3B1):c.2567C>T (p.Ser856Leu)	AP3B1 (S807L +1 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 2	GUncertain significance
Select item 2896826	NM_003664.5(AP3B1):c.280-6T>A	AP3B1	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 2892356	NM_003664.5(AP3B1):c.3204C>G (p.Ala1068=)	AP3B1	Single nucleotide variant (synonymous variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 2889690	NM_003664.5(AP3B1):c.1874C>G (p.Thr625Ser)	AP3B1 (T576S +1 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 2	GUncertain significance
Select item 2886086	NM_003664.5(AP3B1):c.757C>T (p.Arg253Trp)	AP3B1 (R204W +1 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 2	GUncertain significance
Select item 2883361	NM_003664.5(AP3B1):c.129-14_129-12del	AP3B1	Deletion (intron variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 2879119	NM_003664.5(AP3B1):c.1764A>G (p.Gly588=)	AP3B1	Single nucleotide variant (synonymous variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 2878711	NM_003664.5(AP3B1):c.1596A>G (p.Val532=)	AP3B1	Single nucleotide variant (synonymous variant)	Hermansky-Pudlak syndrome 2	GUncertain significance
Select item 2873200	NM_003664.5(AP3B1):c.2078-11C>T	AP3B1	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 2869163	NM_003664.5(AP3B1):c.2894+6T>C	AP3B1	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 2	GUncertain significance
Select item 2862724	NM_003664.5(AP3B1):c.2994A>T (p.Gly998=)	AP3B1	Single nucleotide variant (synonymous variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 2853305	NM_003664.5(AP3B1):c.966G>A (p.Leu322=)	AP3B1	Single nucleotide variant (synonymous variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 2852860	NM_003664.5(AP3B1):c.128+8G>A	AP3B1	Single nucleotide variant (intron variant +1 more)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 2848701	NM_003664.5(AP3B1):c.129-1G>A	AP3B1	Single nucleotide variant (splice acceptor variant)	Hermansky-Pudlak syndrome 2	GLikely pathogenic
Select item 2842524	NM_003664.5(AP3B1):c.2100T>C (p.Ser700=)	AP3B1	Single nucleotide variant (synonymous variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 2837529	NM_003664.5(AP3B1):c.1286del (p.Gly429fs)	AP3B1 (G380fs +1 more)	Deletion (frameshift variant)	Hermansky-Pudlak syndrome 2	GPathogenic
Select item 2824799	NM_003664.5(AP3B1):c.1531C>T (p.Pro511Ser)	AP3B1 (P511S +1 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 2	GUncertain significance
Select item 2817952	NM_003664.5(AP3B1):c.2471-16G>C	AP3B1	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 2817785	NM_003664.5(AP3B1):c.2322A>G (p.Ser774=)	AP3B1	Single nucleotide variant (synonymous variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 2812558	NM_003664.5(AP3B1):c.1907T>G (p.Leu636Ter)	AP3B1 (L587* +1 more)	Single nucleotide variant (nonsense)	Hermansky-Pudlak syndrome 2	GPathogenic
Select item 2811035	NM_003664.5(AP3B1):c.2734C>A (p.Arg912=)	AP3B1	Single nucleotide variant (synonymous variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 2806695	NM_003664.5(AP3B1):c.204+14T>A	AP3B1	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 2805266	NM_003664.5(AP3B1):c.2772T>A (p.Leu924=)	AP3B1	Single nucleotide variant (synonymous variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 2805160	NM_003664.5(AP3B1):c.2601A>G (p.Pro867=)	AP3B1	Single nucleotide variant (synonymous variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 2804721	NM_003664.5(AP3B1):c.482A>G (p.Asp161Gly)	AP3B1 (D112G +1 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 2	GUncertain significance
Select item 2804227	NM_003664.5(AP3B1):c.2810-10T>C	AP3B1	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 2801923	NM_003664.5(AP3B1):c.15T>C (p.Ser5=)	AP3B1	Single nucleotide variant (5 prime UTR variant +1 more)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 2801712	NM_003664.5(AP3B1):c.786+1G>A	AP3B1	Single nucleotide variant (splice donor variant)	Hermansky-Pudlak syndrome 2	GLikely pathogenic
Select item 2800808	NM_003664.5(AP3B1):c.262G>C (p.Ala88Pro)	AP3B1 (A88P +1 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 2	GUncertain significance
Select item 2799576	NM_003664.5(AP3B1):c.1627T>C (p.Leu543=)	AP3B1	Single nucleotide variant (synonymous variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 2794037	NM_003664.5(AP3B1):c.1364-15T>G	AP3B1	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 2791656	NM_003664.5(AP3B1):c.1095+20G>T	AP3B1	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 2791128	NM_003664.5(AP3B1):c.1260T>C (p.Phe420=)	AP3B1	Single nucleotide variant (synonymous variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 2790631	NM_003664.5(AP3B1):c.2983A>G (p.Lys995Glu)	AP3B1 (K995E +1 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 2	GUncertain significance
Select item 2788282	NM_003664.5(AP3B1):c.2427A>G (p.Arg809=)	AP3B1	Single nucleotide variant (synonymous variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 2788169	NM_003664.5(AP3B1):c.2160C>T (p.Ser720=)	AP3B1	Single nucleotide variant (synonymous variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 2782803	NM_003664.5(AP3B1):c.604-17A>G	AP3B1	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 2781046	NM_003664.5(AP3B1):c.2907T>C (p.Asp969=)	AP3B1	Single nucleotide variant (synonymous variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 2777056	NM_003664.5(AP3B1):c.723G>A (p.Gln241=)	AP3B1	Single nucleotide variant (synonymous variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 2768452	NM_003664.5(AP3B1):c.2438C>G (p.Thr813Ser)	AP3B1 (T813S +1 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 2	GUncertain significance
Select item 2765769	NM_003664.5(AP3B1):c.2198G>T (p.Gly733Val)	AP3B1 (G733V +1 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 2	GUncertain significance
Select item 2764699	NM_003664.5(AP3B1):c.2823T>C (p.Pro941=)	AP3B1	Single nucleotide variant (synonymous variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 2759662	NM_003664.5(AP3B1):c.1167+8T>C	AP3B1	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2753058	NM_003664.5(AP3B1):c.205-10del	AP3B1	Deletion (intron variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 2749771	NM_003664.5(AP3B1):c.1930_1937del (p.Pro644fs)	AP3B1 (P595fs +1 more)	Deletion (frameshift variant)	Hermansky-Pudlak syndrome 2	GPathogenic
Select item 2748816	NM_003664.5(AP3B1):c.1408del (p.Gln470fs)	AP3B1 (Q421fs +1 more)	Deletion (frameshift variant)	Hermansky-Pudlak syndrome 2	GPathogenic
Select item 2744124	NM_003664.5(AP3B1):c.1651-11T>C	AP3B1	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 2740996	NM_003664.5(AP3B1):c.1168-4A>G	AP3B1	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 2 +1 more	GLikely benign
Select item 2739632	NM_003664.5(AP3B1):c.2734C>T (p.Arg912Ter)	AP3B1 (R863* +1 more)	Single nucleotide variant (nonsense)	Hermansky-Pudlak syndrome 2	GPathogenic
Select item 2738264	NM_003664.5(AP3B1):c.2585C>A (p.Thr862Asn)	AP3B1 (T862N +1 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 2	GUncertain significance
Select item 2732938	NM_003664.5(AP3B1):c.1947A>T (p.Arg649=)	AP3B1	Single nucleotide variant (synonymous variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 2728332	NM_003664.5(AP3B1):c.213A>G (p.Ala71=)	AP3B1	Single nucleotide variant (synonymous variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 2726846	NM_003664.5(AP3B1):c.328C>G (p.Gln110Glu)	AP3B1 (Q61E +1 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 2	GUncertain significance
Select item 2725679	NM_003664.5(AP3B1):c.2832C>T (p.Ser944=)	AP3B1	Single nucleotide variant (synonymous variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 2725512	NM_003664.5(AP3B1):c.3264G>A (p.Lys1088=)	AP3B1	Single nucleotide variant (synonymous variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 2717774	NM_003664.5(AP3B1):c.2675_2679del (p.Pro892fs)	AP3B1 (P843fs +1 more)	Deletion (frameshift variant)	Hermansky-Pudlak syndrome 2	GPathogenic
Select item 2712086	NM_003664.5(AP3B1):c.2895-12G>T	AP3B1	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 2711295	NM_003664.5(AP3B1):c.2397+7del	AP3B1	Deletion (intron variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 2708581	NM_003664.5(AP3B1):c.2148C>T (p.Ser716=)	AP3B1	Single nucleotide variant (synonymous variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 2705668	NM_003664.5(AP3B1):c.753T>G (p.Tyr251Ter)	AP3B1 (Y251* +1 more)	Single nucleotide variant (nonsense)	Hermansky-Pudlak syndrome 2	GPathogenic
Select item 2703808	NM_003664.5(AP3B1):c.84T>A (p.Ile28=)	AP3B1	Single nucleotide variant (5 prime UTR variant +1 more)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 2698780	NM_003664.5(AP3B1):c.1973_1983dup (p.Pro662fs)	AP3B1 (P613fs +1 more)	Duplication (frameshift variant)	Hermansky-Pudlak syndrome 2	GPathogenic
Select item 2676753	NM_003664.5(AP3B1):c.1521_1522del (p.Cys507_Glu508delinsTer)	AP3B1	Microsatellite (nonsense)	Hermansky-Pudlak syndrome 2	GLikely pathogenic
Select item 2676752	NM_003664.5(AP3B1):c.724dup (p.Val242fs)	AP3B1 (V193fs +1 more)	Duplication (frameshift variant)	Hermansky-Pudlak syndrome 2	GLikely pathogenic

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