C2931875[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar

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Items: 75

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2676037	NM_000195.5(HPS1):c.2095dup (p.Leu699fs)	HPS1 (L375fs +6 more)	Duplication (frameshift variant)	Hermansky-Pudlak syndrome 1	GLikely pathogenic
Select item 2676049	NM_000195.5(HPS1):c.2029_2057del (p.Thr677fs)	HPS1 (T353fs +6 more)	Deletion (frameshift variant)	Hermansky-Pudlak syndrome 1	GLikely pathogenic
Select item 1355628	NM_000195.5(HPS1):c.1940+2T>C	HPS1	Single nucleotide variant (splice donor variant)	HPS1-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 2676061	NM_000195.5(HPS1):c.1938_1939insG (p.Arg647fs)	HPS1 (R323fs +6 more)	Insertion (frameshift variant)	Hermansky-Pudlak syndrome 1	GLikely pathogenic
Select item 962245	NM_000195.5(HPS1):c.1932del (p.Tyr645fs)	HPS1 (Y558fs +6 more)	Deletion (frameshift variant)	Hermansky-Pudlak syndrome +2 more	GPathogenic/Likely pathogenic
Select item 1068714	NM_000195.5(HPS1):c.1925del (p.Gly642fs)	HPS1 (G318fs +6 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1341386	NM_000195.5(HPS1):c.1858-1G>A	HPS1	Single nucleotide variant (splice acceptor variant)	Hermansky-Pudlak syndrome +2 more	GPathogenic/Likely pathogenic
Select item 627174	NM_000195.5(HPS1):c.1857+2T>C	HPS1	Single nucleotide variant (splice donor variant)	Hermansky-Pudlak syndrome +3 more	GPathogenic/Likely pathogenic
Select item 1324542	NM_000195.5(HPS1):c.1857+1G>A	HPS1	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 627613	NM_000195.5(HPS1):c.1807C>T (p.Gln603Ter)	HPS1 (Q603* +6 more)	Single nucleotide variant (nonsense)	Hermansky-Pudlak syndrome 1 +1 more	GPathogenic
Select item 2676058	NM_000195.5(HPS1):c.1773_1783delinsC (p.Arg591fs)	HPS1 (R267fs +6 more)	Indel (frameshift variant)	Hermansky-Pudlak syndrome 1	GLikely pathogenic
Select item 2676062	NM_000195.5(HPS1):c.1780C>T (p.Gln594Ter)	HPS1 (Q270* +6 more)	Single nucleotide variant (nonsense)	Hermansky-Pudlak syndrome 1	GLikely pathogenic
Select item 2154613	NM_000195.5(HPS1):c.1777del (p.Leu593fs)	HPS1 (L506fs +6 more)	Deletion (frameshift variant)	Hermansky-Pudlak syndrome 1 +2 more	GPathogenic/Likely pathogenic
Select item 2676055	NM_000195.5(HPS1):c.1771A>T (p.Arg591Ter)	HPS1 (R267* +6 more)	Single nucleotide variant (nonsense)	Hermansky-Pudlak syndrome 1 +1 more	GPathogenic/Likely pathogenic
Select item 1032250	NM_000195.5(HPS1):c.1763T>C (p.Leu588Pro)	HPS1 (L264P +6 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 1 +2 more	GUncertain significance
Select item 21097	NM_000195.5(HPS1):c.1744-2A>C	HPS1	Single nucleotide variant (splice acceptor variant)	Hermansky-Pudlak syndrome +2 more	GPathogenic/Likely pathogenic
Select item 694730	NM_000195.5(HPS1):c.1657C>T (p.Gln553Ter)	HPS1 (Q229* +6 more)	Single nucleotide variant (nonsense)	Hermansky-Pudlak syndrome 1	GPathogenic/Likely pathogenic
Select item 2676050	NM_000195.5(HPS1):c.1620_1624del (p.Leu541fs)	HPS1 (L217fs +6 more)	Deletion (frameshift variant)	Hermansky-Pudlak syndrome 1	GLikely pathogenic
Select item 2676063	NM_000195.5(HPS1):c.1519dup (p.Gln507fs)	HPS1 (Q183fs +6 more)	Duplication (frameshift variant)	Hermansky-Pudlak syndrome 1	GLikely pathogenic
Select item 1341397	NM_000195.5(HPS1):c.1513C>T (p.Gln505Ter)	HPS1 (Q181* +6 more)	Single nucleotide variant (nonsense)	Hermansky-Pudlak syndrome 1 +1 more	GPathogenic/Likely pathogenic
Select item 5277	NM_000195.5(HPS1):c.1472_1487dup (p.His497fs)	HPS1 (H341fs +6 more)	Duplication (frameshift variant)	Hermansky-Pudlak syndrome +3 more	GPathogenic
Select item 1445812	NM_000195.5(HPS1):c.1473dup (p.Ser492fs)	HPS1 (S336fs +6 more)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 848274	NM_000195.5(HPS1):c.1437C>A (p.Cys479Ter)	HPS1 (C359* +6 more)	Single nucleotide variant (nonsense)	Hermansky-Pudlak syndrome 1 +1 more	GPathogenic/Likely pathogenic
Select item 2676047	NM_000195.5(HPS1):c.1405C>T (p.Gln469Ter)	HPS1 (Q145* +6 more)	Single nucleotide variant (nonsense)	Hermansky-Pudlak syndrome 1	GLikely pathogenic
Select item 1341378	NM_000195.5(HPS1):c.1375del (p.Ser459fs)	HPS1 (S303fs +6 more)	Deletion (frameshift variant)	Hermansky-Pudlak syndrome +2 more	GPathogenic
Select item 2676056	NM_000195.5(HPS1):c.1335+1G>A	HPS1	Single nucleotide variant (splice donor variant)	Hermansky-Pudlak syndrome 1	GLikely pathogenic
Select item 1341379	NM_000195.5(HPS1):c.1315C>T (p.Arg439Ter)	HPS1 (R115* +6 more)	Single nucleotide variant (nonsense)	Hermansky-Pudlak syndrome +2 more	GPathogenic
Select item 2676048	NM_000195.5(HPS1):c.1293_1297delinsT (p.Arg431fs)	HPS1 (R107fs +6 more)	Indel (frameshift variant)	Hermansky-Pudlak syndrome 1	GLikely pathogenic
Select item 2676065	NM_000195.5(HPS1):c.1219A>T (p.Lys407Ter)	HPS1 (K251* +6 more)	Single nucleotide variant (nonsense)	Hermansky-Pudlak syndrome 1	GLikely pathogenic
Select item 2676040	NM_000195.5(HPS1):c.1198del (p.Asp400fs)	HPS1 (D244fs +6 more)	Deletion (frameshift variant)	Hermansky-Pudlak syndrome 1 +1 more	GPathogenic/Likely pathogenic
Select item 21091	NM_000195.5(HPS1):c.1189del (p.Gln397fs)	HPS1 (Q241fs +6 more)	Deletion (frameshift variant)	Hermansky-Pudlak syndrome +2 more	GPathogenic/Likely pathogenic
Select item 2676036	NM_000195.5(HPS1):c.1138_1139dup (p.Val381fs)	HPS1 (V225fs +6 more)	Duplication (frameshift variant)	Hermansky-Pudlak syndrome 1	GLikely pathogenic
Select item 2676060	NM_000195.5(HPS1):c.1084del (p.Cys362fs)	HPS1 (C206fs +6 more)	Deletion (frameshift variant)	Hermansky-Pudlak syndrome 1	GLikely pathogenic
Select item 2676045	NM_000195.5(HPS1):c.1065del (p.Asn356fs)	HPS1 (N200fs +6 more)	Deletion (frameshift variant)	Hermansky-Pudlak syndrome 1	GLikely pathogenic
Select item 280573	NM_000195.5(HPS1):c.988-44_1023delinsT	HPS1	Indel (splice acceptor variant)	not provided +1 more	GLikely pathogenic
Select item 1074133	NM_000195.5(HPS1):c.988-1G>T	HPS1	Single nucleotide variant (splice acceptor variant)	Hermansky-Pudlak syndrome 1 +2 more	GPathogenic/Likely pathogenic
Select item 2164818	NM_000195.5(HPS1):c.987+1G>A	HPS1	Single nucleotide variant (splice donor variant)	Hermansky-Pudlak syndrome 1 +1 more	GLikely pathogenic
Select item 5278	NM_000195.5(HPS1):c.972dup (p.Met325fs)	HPS1, MIR4685 (M238fs +6 more)	Duplication (frameshift variant)	Hermansky-Pudlak syndrome +2 more	GPathogenic/Likely pathogenic
Select item 5280	NM_000195.5(HPS1):c.972del (p.Met325fs)	HPS1 (M202fs +5 more)	Deletion (frameshift variant +1 more)	Hermansky-Pudlak syndrome 1 +2 more	GPathogenic
Select item 5282	NM_000195.5(HPS1):c.962dup (p.Thr322fs)	HPS1 (T199fs +5 more)	Duplication (frameshift variant +1 more)	Hermansky-Pudlak syndrome 1 +1 more	GPathogenic
Select item 1341380	NM_000195.5(HPS1):c.962del (p.Gly321fs)	HPS1 (G165fs +5 more)	Deletion (frameshift variant +1 more)	Hermansky-Pudlak syndrome +2 more	GPathogenic/Likely pathogenic
Select item 3241742	NM_000195.5(HPS1):c.937+1G>A	HPS1 (G280D +3 more)	Single nucleotide variant (missense variant +1 more)	Hermansky-Pudlak syndrome 1	GLikely pathogenic
Select item 1416237	NM_000195.5(HPS1):c.937G>A (p.Gly313Ser)	HPS1 (G226S +5 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 3014441	NM_000195.5(HPS1):c.904_917dup (p.Pro307fs)	HPS1 (P184fs +7 more)	Duplication (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 944005	NM_000195.5(HPS1):c.852del (p.Ser285fs)	HPS1 (G245fs +3 more)	Deletion (frameshift variant +2 more)	Hermansky-Pudlak syndrome 1 +2 more	GPathogenic/Likely pathogenic
Select item 3241743	NM_000195.5(HPS1):c.847_848delinsTA (p.Gly283Ter)	HPS1 (G160* +3 more)	Indel (nonsense +3 more)	Hermansky-Pudlak syndrome 1	GLikely pathogenic
Select item 2676052	NM_000195.5(HPS1):c.845_848delinsTGT (p.Thr282fs)	HPS1 (L243fs +3 more)	Indel (frameshift variant +2 more)	Hermansky-Pudlak syndrome 1	GLikely pathogenic
Select item 2998574	NM_000195.5(HPS1):c.769-14_834del	HPS1	Deletion (splice acceptor variant +1 more)	not provided +1 more	GLikely pathogenic
Select item 1070980	NM_000195.5(HPS1):c.814C>T (p.Gln272Ter)	HPS1 (Q149* +2 more)	Single nucleotide variant (nonsense +3 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2676057	NM_000195.5(HPS1):c.807del (p.Val270fs)	HPS1 (P230fs +3 more)	Deletion (frameshift variant +2 more)	Hermansky-Pudlak syndrome 1	GLikely pathogenic
Select item 1179029	NM_000195.5(HPS1):c.780dup (p.Arg261fs)	HPS1 (G222fs +3 more)	Duplication (frameshift variant +2 more)	Hermansky-Pudlak syndrome 1	GPathogenic/Likely pathogenic
Select item 2676046	NM_000195.5(HPS1):c.766C>T (p.Gln256Ter)	HPS1 (Q133* +2 more)	Single nucleotide variant (nonsense +2 more)	Hermansky-Pudlak syndrome 1	GLikely pathogenic
Select item 2676053	NM_000195.5(HPS1):c.721del (p.Val241fs)	HPS1 (V118fs +3 more)	Deletion (frameshift variant +1 more)	Hermansky-Pudlak syndrome 1	GLikely pathogenic
Select item 1452567	NM_000195.5(HPS1):c.716T>C (p.Leu239Pro)	HPS1 (L239P +3 more)	Single nucleotide variant (missense variant +1 more)	Hermansky-Pudlak syndrome +2 more	GPathogenic
Select item 2676059	NM_000195.5(HPS1):c.669-1G>C	HPS1	Single nucleotide variant (splice acceptor variant)	Hermansky-Pudlak syndrome 1	GLikely pathogenic
Select item 2676051	NM_000195.5(HPS1):c.668+1G>A	HPS1	Single nucleotide variant (splice donor variant +1 more)	Hermansky-Pudlak syndrome 1	GLikely pathogenic
Select item 2676044	NM_000195.5(HPS1):c.665_666del (p.Tyr221_Ser222insTer)	HPS1	Microsatellite (nonsense +2 more)	Hermansky-Pudlak syndrome 1	GLikely pathogenic
Select item 2676043	NM_000195.5(HPS1):c.595_601del (p.Pro199fs)	HPS1 (P199fs +1 more)	Deletion (frameshift variant +2 more)	Hermansky-Pudlak syndrome 1	GLikely pathogenic
Select item 2676039	NM_000195.5(HPS1):c.533del (p.Gln178fs)	HPS1 (Q178fs +1 more)	Deletion (frameshift variant +2 more)	Hermansky-Pudlak syndrome 1	GPathogenic
Select item 937794	NM_000195.5(HPS1):c.517C>T (p.Arg173Ter)	HPS1 (R173* +1 more)	Single nucleotide variant (nonsense +2 more)	Hermansky-Pudlak syndrome +2 more	GPathogenic
Select item 934183	NM_000195.5(HPS1):c.467_476del (p.Tyr156fs)	HPS1 (Y156fs +2 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 3241740	NM_000195.5(HPS1):c.410del (p.Pro137fs)	HPS1 (P137fs +2 more)	Deletion (frameshift variant +1 more)	Hermansky-Pudlak syndrome 1	GLikely pathogenic
Select item 5283	NM_000195.5(HPS1):c.398+5G>A	HPS1	Single nucleotide variant (intron variant)	not provided +2 more	GPathogenic
Select item 3241741	NM_000195.5(HPS1):c.398+2T>G	HPS1	Single nucleotide variant (intron variant +1 more)	Hermansky-Pudlak syndrome 1	GLikely pathogenic
Select item 449037	NM_000195.5(HPS1):c.398+2T>C	HPS1	Single nucleotide variant (intron variant +1 more)	Hermansky-Pudlak syndrome +2 more	GPathogenic/Likely pathogenic
Select item 5281	NM_000195.5(HPS1):c.397G>T (p.Glu133Ter)	HPS1 (E133*)	Single nucleotide variant (nonsense +2 more)	Hermansky-Pudlak syndrome 1	GPathogenic
Select item 21104	NM_000195.5(HPS1):c.391C>T (p.Arg131Ter)	HPS1 (R131*)	Single nucleotide variant (nonsense +2 more)	Hermansky-Pudlak syndrome +2 more	GPathogenic
Select item 21103	NM_000195.5(HPS1):c.355del (p.His119fs)	HPS1 (H119fs)	Deletion (frameshift variant +2 more)	not provided +2 more	GPathogenic
Select item 2676041	NM_000195.5(HPS1):c.322A>T (p.Lys108Ter)	HPS1 (K108*)	Single nucleotide variant (nonsense +2 more)	Hermansky-Pudlak syndrome 1	GLikely pathogenic
Select item 2676054	NM_000195.5(HPS1):c.298G>T (p.Glu100Ter)	HPS1 (E100*)	Single nucleotide variant (nonsense +2 more)	Hermansky-Pudlak syndrome 1	GLikely pathogenic
Select item 435451	NM_000195.5(HPS1):c.233_242del (p.Asn78fs)	HPS1 (N78fs +1 more)	Deletion (frameshift variant +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 2676064	NM_000195.5(HPS1):c.141dup (p.Ser48fs)	HPS1 (S48fs)	Duplication (frameshift variant +1 more)	Hermansky-Pudlak syndrome 1	GLikely pathogenic
Select item 1384691	NM_000195.5(HPS1):c.97_100del (p.Ser33fs)	HPS1 (S33fs)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1032251	NM_000195.5(HPS1):c.81del (p.Arg27_Leu28insTer)	HPS1	Deletion (frameshift variant +1 more)	Hermansky-Pudlak syndrome 1	GLikely pathogenic
Select item 1324541	NM_000195.5(HPS1):c.9C>A (p.Cys3Ter)	HPS1 (C3*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic

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Items: 75