"Baylor Genetics"[submitter] AND "CP"[gene] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 4611	NM_032383.5(HPS3):c.2482-2A>G	CP, HPS3	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic
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 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 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
Select item 1067518	NM_032383.5(HPS3):c.2589+2T>C	CP, HPS3	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2676096	NM_032383.5(HPS3):c.2650del (p.Ser884fs)	CP, HPS3 (S719fs +1 more)	Deletion (frameshift variant)	Hermansky-Pudlak syndrome 3	GLikely pathogenic
Select item 1395878	NM_032383.5(HPS3):c.2733del (p.Leu911_Leu912insTer)	CP, HPS3	Deletion (frameshift variant)	Hermansky-Pudlak syndrome 3 +1 more	GPathogenic/Likely pathogenic
Select item 548481	NM_032383.5(HPS3):c.2739_2742del (p.Glu913fs)	HPS3, CP (E913fs +1 more)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic/Likely 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 3241751	NM_032383.5(HPS3):c.2766del (p.Pro921_Tyr922insTer)	CP, HPS3	Deletion (nonsense)	Hermansky-Pudlak syndrome 3	GLikely pathogenic
Select item 2676066	NM_032383.5(HPS3):c.2788G>T (p.Glu930Ter)	CP, HPS3 (E765* +1 more)	Single nucleotide variant (nonsense)	Hermansky-Pudlak syndrome 3	GLikely pathogenic
Select item 1356541	NM_032383.5(HPS3):c.2796+1del	CP, HPS3	Deletion (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1067748	NM_032383.5(HPS3):c.2796+2T>C	CP, HPS3	Single nucleotide variant (splice donor variant)	Hermansky-Pudlak syndrome 3 +1 more	GLikely pathogenic
Select item 2676079	NM_032383.5(HPS3):c.2808G>A (p.Trp936Ter)	CP, HPS3 (W771* +1 more)	Single nucleotide variant (nonsense)	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 2676080	NM_032383.5(HPS3):c.2871C>A (p.Tyr957Ter)	CP, HPS3 (Y792* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2676109	NM_032383.5(HPS3):c.2887+1G>A	CP, HPS3	Single nucleotide variant (splice donor variant)	Hermansky-Pudlak syndrome 3	GLikely pathogenic
Select item 4614	NM_032383.5(HPS3):c.2888-1612G>A	CP, HPS3	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 3 +1 more	GConflicting classifications of pathogenicity

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Items: 27