Related gene-specific medical variations for Gene (Select 8546) - ClinVar

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Items: 22

	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 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 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
Select item 2676746	NM_003664.5(AP3B1):c.1020del (p.Arg341fs)	AP3B1 (R292fs +1 more)	Deletion (frameshift variant)	Hermansky-Pudlak syndrome 2	GLikely pathogenic
Select item 2676743	NM_003664.5(AP3B1):c.2894+1G>T	AP3B1	Single nucleotide variant (splice donor variant)	Hermansky-Pudlak syndrome 2	GLikely pathogenic
Select item 2676742	NM_003664.5(AP3B1):c.1042G>T (p.Glu348Ter)	AP3B1 (E299* +1 more)	Single nucleotide variant (nonsense)	Hermansky-Pudlak syndrome 2	GLikely pathogenic
Select item 2676740	NM_003664.5(AP3B1):c.2898del (p.Lys967fs)	AP3B1 (K918fs +1 more)	Deletion (frameshift variant)	Hermansky-Pudlak syndrome 2	GLikely pathogenic
Select item 2676738	NM_003664.5(AP3B1):c.1474-2A>G	AP3B1	Single nucleotide variant (splice acceptor variant)	Hermansky-Pudlak syndrome 2	GLikely pathogenic
Select item 2676735	NM_003664.5(AP3B1):c.942+1G>T	AP3B1	Single nucleotide variant (splice donor variant)	Hermansky-Pudlak syndrome 2	GLikely pathogenic
Select item 2676734	NM_003664.5(AP3B1):c.543_553del (p.Asp181fs)	AP3B1 (D132fs +1 more)	Deletion (frameshift variant)	Hermansky-Pudlak syndrome 2	GLikely pathogenic
Select item 2676732	NM_003664.5(AP3B1):c.2078-1G>A	AP3B1	Single nucleotide variant (splice acceptor variant)	Hermansky-Pudlak syndrome 2	GLikely pathogenic
Select item 2676731	NM_003664.5(AP3B1):c.1363+1G>A	AP3B1	Single nucleotide variant (splice donor variant)	Hermansky-Pudlak syndrome 2	GPathogenic
Select item 2676730	NM_003664.5(AP3B1):c.2297del (p.Asp766fs)	AP3B1 (D717fs +1 more)	Deletion (frameshift variant)	Hermansky-Pudlak syndrome 2	GLikely pathogenic
Select item 2676729	NM_003664.5(AP3B1):c.2398_2401del (p.Glu800fs)	AP3B1 (E751fs +1 more)	Deletion (frameshift variant)	Hermansky-Pudlak syndrome 2	GLikely pathogenic
Select item 2676726	NM_003664.5(AP3B1):c.1852C>T (p.Gln618Ter)	AP3B1 (Q569* +1 more)	Single nucleotide variant (nonsense)	Hermansky-Pudlak syndrome 2	GLikely pathogenic
Select item 2676725	NM_003664.5(AP3B1):c.1206_1207del (p.Ser403fs)	AP3B1 (S354fs +1 more)	Microsatellite (frameshift variant)	Hermansky-Pudlak syndrome 2	GLikely pathogenic
Select item 2439135	NM_003664.5(AP3B1):c.2689_2690delinsTT (p.Asp897Phe)	AP3B1 (D848F +1 more)	Indel (missense variant)	Hermansky-Pudlak syndrome 2	GUncertain significance
Select item 2434250	NM_003664.5(AP3B1):c.280-2A>G	AP3B1	Single nucleotide variant (splice acceptor variant)	Hermansky-Pudlak syndrome 2	GLikely pathogenic
Select item 814695	GRCh37/hg19 5q14.1(chr5:77575043-77637023)x1	AP3B1	Copy number loss	not provided	GUncertain significance
Select item 6371	NM_003664.5(AP3B1):c.1168_1230del (p.Leu390_Gln410del)	AP3B1	Deletion	Hermansky-Pudlak syndrome 2	GPathogenic

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Items: 22