C3888001[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar

Search results

Items: 88

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1916243	NM_032383.5(HPS3):c.7C>T (p.Gln3Ter)	HPS3 (Q3*)	Single nucleotide variant (nonsense)	Hermansky-Pudlak syndrome 3 +1 more	GPathogenic
Select item 627248	NM_032383.5(HPS3):c.15C>G (p.Tyr5Ter)	HPS3 (Y5*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 2676075	NM_032383.5(HPS3):c.87del (p.Arg30fs)	HPS3 (R30fs)	Deletion (frameshift variant)	Hermansky-Pudlak syndrome 3	GLikely pathogenic
Select item 2676073	NM_032383.5(HPS3):c.145C>T (p.Gln49Ter)	HPS3 (Q49*)	Single nucleotide variant (nonsense)	Hermansky-Pudlak syndrome 3	GLikely pathogenic
Select item 2676067	NM_032383.5(HPS3):c.157del (p.Gln53fs)	HPS3 (Q53fs)	Deletion (frameshift variant)	Hermansky-Pudlak syndrome 3	GLikely pathogenic
Select item 2676102	NM_032383.5(HPS3):c.207C>A (p.Tyr69Ter)	HPS3 (Y69*)	Single nucleotide variant (nonsense)	Hermansky-Pudlak syndrome 3	GLikely pathogenic
Select item 1523884	NM_032383.5(HPS3):c.217+2T>G	HPS3	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 2676089	NM_032383.5(HPS3):c.219del (p.Asp74fs)	HPS3 (D74fs)	Deletion (frameshift variant +1 more)	Hermansky-Pudlak syndrome 3	GLikely pathogenic
Select item 1944868	NM_032383.5(HPS3):c.248dup (p.Asn83fs)	HPS3 (N83fs)	Duplication (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 1452657	NM_032383.5(HPS3):c.249_252del (p.Asn83fs)	HPS3 (N83fs)	Deletion (intron variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2676100	NM_032383.5(HPS3):c.324dup (p.Ile109fs)	HPS3 (I109fs)	Duplication (frameshift variant +1 more)	Hermansky-Pudlak syndrome 3	GLikely pathogenic
Select item 2676095	NM_032383.5(HPS3):c.371del (p.Gln124fs)	HPS3 (Q124fs)	Deletion (frameshift variant +1 more)	Hermansky-Pudlak syndrome 3	GLikely pathogenic
Select item 653630	NM_032383.5(HPS3):c.403del (p.Ala135fs)	HPS3 (A135fs)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1427312	NM_032383.5(HPS3):c.436G>T (p.Gly146Ter)	HPS3 (G146*)	Single nucleotide variant (nonsense +1 more)	HPS3-related condition +2 more	GPathogenic/Likely pathogenic
Select item 2676101	NM_032383.5(HPS3):c.496_497dup (p.Asn167fs)	HPS3 (N167fs)	Duplication (frameshift variant +1 more)	Hermansky-Pudlak syndrome 3	GLikely pathogenic
Select item 2676074	NM_032383.5(HPS3):c.589dup (p.Tyr197fs)	HPS3 (Y197fs)	Duplication (intron variant +1 more)	Hermansky-Pudlak syndrome 3 +1 more	GPathogenic/Likely pathogenic
Select item 950927	NM_032383.5(HPS3):c.660_661del (p.Arg220fs)	HPS3 (R220fs)	Microsatellite (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2676086	NM_032383.5(HPS3):c.658dup (p.Arg220fs)	HPS3 (R220fs)	Duplication (frameshift variant +1 more)	Hermansky-Pudlak syndrome 3	GLikely pathogenic
Select item 2676107	NM_032383.5(HPS3):c.691C>T (p.Arg231Ter)	HPS3 (R231*)	Single nucleotide variant (nonsense +1 more)	Hermansky-Pudlak syndrome 3 +1 more	GPathogenic/Likely pathogenic
Select item 2676094	NM_032383.5(HPS3):c.706G>T (p.Glu236Ter)	HPS3 (E236*)	Single nucleotide variant (nonsense +1 more)	Hermansky-Pudlak syndrome 3	GLikely pathogenic
Select item 1454368	NM_032383.5(HPS3):c.728_729insA (p.Ser244fs)	HPS3 (S79fs +1 more)	Insertion (frameshift variant)	not provided +1 more	GPathogenic
Select item 2676069	NM_032383.5(HPS3):c.731C>A (p.Ser244Ter)	HPS3 (S244* +1 more)	Single nucleotide variant (nonsense)	Hermansky-Pudlak syndrome 3	GLikely pathogenic
Select item 2676081	NM_032383.5(HPS3):c.745_746del (p.Ser248_Asp249insTer)	HPS3	Deletion (nonsense)	Hermansky-Pudlak syndrome 3	GLikely pathogenic
Select item 1724929	NM_032383.5(HPS3):c.823G>T (p.Glu275Ter)	HPS3 (E110* +1 more)	Single nucleotide variant (nonsense)	Hermansky-Pudlak syndrome 3	GLikely pathogenic
Select item 664198	NM_032383.5(HPS3):c.851_852del (p.Arg284fs)	HPS3 (R284fs +1 more)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 2676103	NM_032383.5(HPS3):c.868C>T (p.Gln290Ter)	HPS3 (Q125* +1 more)	Single nucleotide variant (nonsense)	Hermansky-Pudlak syndrome 3	GPathogenic
Select item 2676110	NM_032383.5(HPS3):c.869_870del (p.Gln290fs)	HPS3 (Q125fs +1 more)	Deletion (frameshift variant)	Hermansky-Pudlak syndrome 3	GLikely pathogenic
Select item 2676071	NM_032383.5(HPS3):c.904dup (p.Ser302fs)	HPS3 (S137fs +1 more)	Duplication (frameshift variant)	Hermansky-Pudlak syndrome 3	GLikely pathogenic
Select item 2676105	NM_032383.5(HPS3):c.1055del (p.Gly352fs)	HPS3 (G187fs +1 more)	Deletion (frameshift variant)	Hermansky-Pudlak syndrome 3	GLikely pathogenic
Select item 2676098	NM_032383.5(HPS3):c.1120C>T (p.Gln374Ter)	HPS3 (Q209* +1 more)	Single nucleotide variant (nonsense)	Hermansky-Pudlak syndrome 3	GLikely pathogenic
Select item 2676070	NM_032383.5(HPS3):c.1123C>T (p.Gln375Ter)	HPS3 (Q210* +1 more)	Single nucleotide variant (nonsense)	Hermansky-Pudlak syndrome 3	GLikely pathogenic
Select item 4609	NM_032383.5(HPS3):c.1163+1G>A	HPS3	Single nucleotide variant (splice donor variant)	Hermansky-Pudlak syndrome 3 +2 more	GPathogenic
Select item 2676092	NM_032383.5(HPS3):c.1175del (p.Gln392fs)	HPS3 (Q227fs +1 more)	Deletion (frameshift variant)	Hermansky-Pudlak syndrome 3	GLikely pathogenic
Select item 1075301	NM_032383.5(HPS3):c.1190_1194dup (p.Ser399fs)	HPS3 (S234fs +1 more)	Duplication (frameshift variant)	Hermansky-Pudlak syndrome 3	GLikely pathogenic
Select item 4613	NM_032383.5(HPS3):c.1189C>T (p.Arg397Trp)	HPS3 (R397W +1 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 3 +2 more	GPathogenic/Likely pathogenic
Select item 2676068	NM_032383.5(HPS3):c.1231dup (p.Asp411fs)	HPS3 (D246fs +1 more)	Duplication (frameshift variant)	Hermansky-Pudlak syndrome 3	GLikely pathogenic
Select item 2676077	NM_032383.5(HPS3):c.1246dup	HPS3	Duplication	Hermansky-Pudlak syndrome 3	GLikely pathogenic
Select item 963472	NM_032383.5(HPS3):c.1246-2A>T	HPS3	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GLikely pathogenic
Select item 2676088	NM_032383.5(HPS3):c.1246_1247insT (p.Ala416fs)	HPS3 (A251fs +1 more)	Insertion (frameshift variant)	Hermansky-Pudlak syndrome 3 +1 more	GPathogenic/Likely pathogenic
Select item 2676099	NM_032383.5(HPS3):c.1249del (p.Cys417fs)	HPS3 (C252fs +1 more)	Deletion (frameshift variant)	Hermansky-Pudlak syndrome 3	GLikely pathogenic
Select item 2676093	NM_032383.5(HPS3):c.1291del (p.Leu431fs)	HPS3 (L266fs +1 more)	Deletion (frameshift variant)	Hermansky-Pudlak syndrome 3	GPathogenic
Select item 857848	NM_032383.5(HPS3):c.1385C>A (p.Ser462Ter)	HPS3 (S297* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 627005	NM_032383.5(HPS3):c.1509G>A (p.Met503Ile)	HPS3 (M503I +1 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome +1 more	GLikely pathogenic
Select item 1454818	NM_032383.5(HPS3):c.1555_1595dup (p.Ala532_Leu533insPheThrPheSerValArgLeuIleCysTer)	HPS3	Duplication (nonsense +1 more)	Hermansky-Pudlak syndrome 3 +1 more	GPathogenic/Likely pathogenic
Select item 958132	NM_032383.5(HPS3):c.1588C>T (p.Arg530Ter)	HPS3 (R365* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2676076	NM_032383.5(HPS3):c.1660del (p.Ser554fs)	HPS3 (S389fs +1 more)	Deletion (frameshift variant)	Hermansky-Pudlak syndrome 3	GLikely pathogenic
Select item 2676112	NM_032383.5(HPS3):c.1678del (p.Asp560fs)	HPS3 (D395fs +1 more)	Deletion (frameshift variant)	Hermansky-Pudlak syndrome 3	GLikely pathogenic
Select item 662551	NM_032383.5(HPS3):c.1682_1683del (p.Cys561fs)	HPS3 (C396fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1070715	NM_032383.5(HPS3):c.1686C>A (p.Tyr562Ter)	HPS3 (Y397* +1 more)	Single nucleotide variant (nonsense)	Hermansky-Pudlak syndrome 3 +1 more	GPathogenic/Likely pathogenic
Select item 1324543	NM_032383.5(HPS3):c.1778G>A (p.Trp593Ter)	HPS3 (W428* +1 more)	Single nucleotide variant (nonsense)	Hermansky-Pudlak syndrome 3 +1 more	GPathogenic/Likely pathogenic
Select item 2676104	NM_032383.5(HPS3):c.1824_1825del (p.Phe608fs)	HPS3 (F443fs +1 more)	Deletion (frameshift variant)	Hermansky-Pudlak syndrome 3	GLikely pathogenic
Select item 660187	NM_032383.5(HPS3):c.1838C>G (p.Ser613Ter)	HPS3 (S613* +1 more)	Single nucleotide variant (nonsense)	Hermansky-Pudlak syndrome 3 +1 more	GPathogenic
Select item 1072164	NM_032383.5(HPS3):c.1842_1843del (p.Leu614_Tyr615insTer)	HPS3	Deletion (frameshift variant)	Hermansky-Pudlak syndrome 3 +1 more	GPathogenic/Likely pathogenic
Select item 650918	NM_032383.5(HPS3):c.1861G>T (p.Glu621Ter)	HPS3 (E621* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1427081	NM_032383.5(HPS3):c.1868_1872del (p.Asn623fs)	HPS3 (N458fs +1 more)	Deletion (frameshift variant)	Hermansky-Pudlak syndrome 3 +1 more	GPathogenic/Likely pathogenic
Select item 812964	NM_032383.5(HPS3):c.1870G>T (p.Glu624Ter)	HPS3 (E459* +1 more)	Single nucleotide variant (nonsense)	Hermansky-Pudlak syndrome 3 +2 more	GPathogenic/Likely pathogenic
Select item 2676091	NM_032383.5(HPS3):c.1873-1G>A	HPS3	Single nucleotide variant (splice acceptor variant)	Hermansky-Pudlak syndrome 3 +1 more	GLikely pathogenic
Select item 1072050	NM_032383.5(HPS3):c.2090_2094del (p.Met697fs)	HPS3 (M532fs +1 more)	Microsatellite (frameshift variant)	Hermansky-Pudlak syndrome 3 +1 more	GPathogenic/Likely pathogenic
Select item 2016701	NM_032383.5(HPS3):c.2106+1G>T	HPS3	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 2676111	NM_032383.5(HPS3):c.2134G>T (p.Glu712Ter)	HPS3 (E547* +1 more)	Single nucleotide variant (nonsense)	Hermansky-Pudlak syndrome 3	GLikely pathogenic
Select item 2676085	NM_032383.5(HPS3):c.2155C>T (p.Gln719Ter)	HPS3 (Q554* +1 more)	Single nucleotide variant (nonsense)	Hermansky-Pudlak syndrome 3	GLikely pathogenic
Select item 2676108	NM_032383.5(HPS3):c.2182G>T (p.Glu728Ter)	HPS3 (E563* +1 more)	Single nucleotide variant (nonsense)	Hermansky-Pudlak syndrome 3	GLikely pathogenic
Select item 2676087	NM_032383.5(HPS3):c.2194dup (p.His732fs)	HPS3 (H567fs +1 more)	Duplication (frameshift variant)	Hermansky-Pudlak syndrome 3	GLikely pathogenic
Select item 956903	NM_032383.5(HPS3):c.2208_2209del (p.Gln737fs)	HPS3 (Q737fs +1 more)	Deletion (frameshift variant)	Hermansky-Pudlak syndrome 3 +1 more	GPathogenic
Select item 2676084	NM_032383.5(HPS3):c.2289del (p.Phe763fs)	HPS3 (F598fs +1 more)	Deletion (frameshift variant)	Hermansky-Pudlak syndrome 3	GLikely pathogenic
Select item 1524449	NM_032383.5(HPS3):c.2292+1G>A	HPS3	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 1449318	NM_032383.5(HPS3):c.2343_2344del (p.Phe781fs)	CP, HPS3 (F616fs +1 more)	Deletion (non-coding transcript variant +1 more)	not provided +1 more	GPathogenic/Likely 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)	Hermansky-Pudlak syndrome 3 +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)	not provided +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)	Hermansky-Pudlak syndrome 3 +1 more	GPathogenic/Likely pathogenic
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)	HPS3, CP (Q698* +1 more)	Single nucleotide variant (nonsense)	Hermansky-Pudlak syndrome 3 +1 more	GPathogenic/Likely pathogenic
Select item 962603	NM_032383.5(HPS3):c.2589+1G>T	CP, HPS3	Single nucleotide variant (splice donor variant)	Hermansky-Pudlak syndrome 3 +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)	CP, HPS3 (E913fs +1 more)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic/Likely 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)	Hermansky-Pudlak syndrome 3 +1 more	GPathogenic/Likely pathogenic
Select item 1067748	NM_032383.5(HPS3):c.2796+2T>C	HPS3, CP	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 2676080	NM_032383.5(HPS3):c.2871C>A (p.Tyr957Ter)	CP, HPS3 (Y792* +1 more)	Single nucleotide variant (nonsense)	Hermansky-Pudlak syndrome 3	GLikely pathogenic
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)	not provided +1 more	GConflicting classifications of pathogenicity

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Items: 88