Version: 8.0.0Date: Tue Jan 28 2025
Allele/Variant
Species
Category
Variant Type
Molecular Consequence
Diseases
Genes
Construct Expressed Component
Construct Regulatory Region
Allele/Variant Diseases: blood platelet disease
Dock7m
(Mus musculus)Allele/Variant
Source: MGI:1856946
Genes: Dock7 (Mmu)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: platelet storage pool deficiency
Variant Name: Not Available
zipN98K.sqh.GFP
(Drosophila melanogaster)Allele/Variant
Source: FB:FBal0356510
Genes: Not Available
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: MYH-9 related disease
Variant Name: Not Available
Hps1ep
(Mus musculus)Allele/Variant
Source: MGI:1856712
Genes: Hps1 (Mmu)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: Hermansky-Pudlak syndrome 1, platelet storage pool deficiency
Variant Name: Not Available
zipR1171C.UAS.GFP
(Drosophila melanogaster)Allele/Variant
Source: FB:FBal0278254
Genes: Not Available
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: MYH-9 related disease
Variant Name: Not Available
P2ry12tm1Cjf
(Mus musculus)Allele/Variant
Source: MGI:2445936
Genes: P2ry12 (Mmu)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: platelet-type bleeding disorder 8
Variant Name: Not Available
Bloc1s5mu
(Mus musculus)Allele/Variant
Source: MGI:1856106
Genes: Bloc1s5 (Mmu)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome, platelet storage pool deficiency
Variant Name: Not Available
Hps5ru2-mr
(Mus musculus)Allele/Variant
Source: MGI:1856146
Genes: Hps5 (Mmu)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: platelet storage pool deficiency
Variant Name: Not Available
Ap3b1pe-rim2
(Mus musculus)Allele/Variant
Source: MGI:1857352
Genes: Ap3b1 (Mmu)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: Hermansky-Pudlak syndrome 2, platelet storage pool deficiency
Variant Name: Not Available
Rab27btm1.2Seab
(Mus musculus)Allele/Variant
Source: MGI:3706986
Genes: Rab27b (Mmu)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: platelet storage pool deficiency
Variant Name: Not Available
szy6
(Danio rerio)Allele/Variant
Source: ZFIN:ZDB-ALT-230320-7
Genes: thpo (Dre)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: thrombocytopenia
Variant Name: Not Available
Mpltm1Fjs
(Mus musculus)Allele/Variant
Source: MGI:2686901
Genes: Mpl (Mmu)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: congenital amegakaryocytic thrombocytopenia
Variant Name: Not Available
Itgb3tm1Hyn
(Mus musculus)Allele/Variant
Source: MGI:2175913
Genes: Itgb3 (Mmu)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: platelet-type bleeding disorder 16
Variant Name: Not Available
zipD1847K.UAS.GFP
(Drosophila melanogaster)Allele/Variant
Source: FB:FBal0278256
Genes: Not Available
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: MYH-9 related disease
Variant Name: Not Available
zipR1939X.UAS.GFP
(Drosophila melanogaster)Allele/Variant
Source: FB:FBal0278257
Genes: Not Available
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: MYH-9 related disease
Variant Name: Not Available
zipD1430N.UAS.GFP
(Drosophila melanogaster)Allele/Variant
Source: FB:FBal0278255
Genes: Not Available
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: MYH-9 related disease
Variant Name: Not Available
Hps3coa-6J
(Mus musculus)Allele/Variant
Source: MGI:1861609
Genes: Hps3 (Mmu)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: Hermansky-Pudlak syndrome 3, platelet storage pool deficiency
Variant Name: Not Available
Nbeal2tm1a(EUCOMM)Wtsi
(Mus musculus)Allele/Variant
Source: MGI:4461705
Genes: Nbeal2 (Mmu)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: gray platelet syndrome
Variant Name: Not Available
Ap3b1pe
(Mus musculus)Allele/Variant
Source: MGI:1856989
Genes: Ap3b1 (Mmu)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: Hermansky-Pudlak syndrome 2, platelet storage pool deficiency
Variant Name: Not Available
Ap3d1mh
(Mus musculus)Allele/Variant
Source: MGI:1856083
Genes: Ap3d1 (Mmu)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: Hermansky-Pudlak syndrome 2, platelet storage pool deficiency
Variant Name: Not Available
Dtnbp1sdy
(Mus musculus)Allele/Variant
Source: MGI:1856628
Genes: Dtnbp1 (Mmu)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: Hermansky-Pudlak syndrome 7, schizophrenia, platelet storage pool deficiency
Variant Name: Not Available
Slc7a11sut
(Mus musculus)Allele/Variant
Source: MGI:1857061
Genes: Slc7a11 (Mmu)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: Hermansky-Pudlak syndrome, platelet storage pool deficiency
Variant Name: Not Available
zipR707C.sqh.GFP
(Drosophila melanogaster)Allele/Variant
Source: FB:FBal0356509
Genes: Not Available
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: MYH-9 related disease
Variant Name: Not Available
Bloc1s6pa
(Mus musculus)Allele/Variant
Source: MGI:1856982
Genes: Bloc1s6 (Mmu)
Synonyms: Not Available
Variant Type: point_mutation
Molecular Consequence: stop_gained
Diseases: Hermansky-Pudlak syndrome 9, pulmonary emphysema, platelet storage pool deficiency
Variant Name: Not Available
Myh9tm7.1Rsad
(Mus musculus)Allele/Variant
Source: MGI:5285643
Genes: Myh9 (Mmu)
Synonyms: Not Available
Variant Type: MNV
Molecular Consequence: missense_variant
Diseases: MYH-9 related disease
Variant Name: Not Available
Hps4le
(Mus musculus)Allele/Variant
Source: MGI:1856931
Genes: Hps4 (Mmu)
Synonyms: Not Available
Variant Type: point_mutation
Molecular Consequence: stop_gained
Diseases: Hermansky-Pudlak syndrome 4, platelet storage pool deficiency
Variant Name: Not Available
Hps3coa
(Mus musculus)Allele/Variant
Source: MGI:1856707
Genes: Hps3 (Mmu)
Synonyms: Not Available
Variant Type: point_mutation
Molecular Consequence: splice_acceptor_variant, intron_variant
Diseases: Hermansky-Pudlak syndrome 3, platelet storage pool deficiency
Variant Name: Not Available
Rab27aash
(Mus musculus)Allele/Variant
Source: MGI:1856656
Genes: Rab27a (Mmu)
Synonyms: Not Available
Variant Type: point_mutation
Molecular Consequence: splice_region_variant, intron_variant
Diseases: hemophagocytic lymphohistiocytosis, Hermansky-Pudlak syndrome 1, platelet storage pool deficiency
Variant Name: Not Available
sm10
(Danio rerio)Allele/Variant
Source: ZFIN:ZDB-ALT-170804-2
Genes: mpl (Dre)
Synonyms: Not Available
Variant Type: delins
Molecular Consequence: stop_gained, frameshift_variant
Diseases: congenital amegakaryocytic thrombocytopenia
Variant Name: Not Available
Stim1tm3Ics
(Mus musculus)Allele/Variant
Source: MGI:7622053
Genes: Stim1 (Mmu)
Synonyms: Not Available
Variant Type: point_mutation
Molecular Consequence: missense_variant
Diseases: tubular aggregate myopathy 1, Stormorken syndrome
Variant Name: Not Available
Lystbg-J
(Mus musculus)Allele/Variant
Source: MGI:1855969
Genes: Lyst (Mmu)
Synonyms: Not Available
Variant Type: deletion
Molecular Consequence: inframe_deletion
Diseases: exfoliation syndrome, platelet storage pool deficiency
Variant Name: Not Available
Nbeal2gps
(Mus musculus)Allele/Variant
Source: MGI:5583020
Genes: Nbeal2 (Mmu)
Synonyms: Not Available
Variant Type: deletion
Molecular Consequence: frameshift_variant
Diseases: gray platelet syndrome
Variant Name: Not Available
Myh9tm1.1(MYH9*)Mjk
(Mus musculus)Allele/Variant
Source: MGI:5285646
Genes: Myh9 (Mmu)
Synonyms: Not Available
Variant Type: point_mutation
Molecular Consequence: missense_variant
Diseases: MYH-9 related disease
Variant Name: Not Available
P2ry12tm1Pcon
(Mus musculus)Allele/Variant
Source: MGI:2674084
Genes: P2ry12 (Mmu)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: platelet-type bleeding disorder 8
Variant Name: Not Available
Cd36tm1Mfe
(Mus musculus)Allele/Variant
Source: MGI:1931790
Genes: Cd36 (Mmu)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: platelet-type bleeding disorder 10
Variant Name: Not Available
Itga2btm1Tlr
(Mus musculus)Allele/Variant
Source: MGI:2385793
Genes: Itga2b (Mmu)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: platelet-type bleeding disorder 16
Variant Name: Not Available
Nbeal2tm1Lex
(Mus musculus)Allele/Variant
Source: MGI:5007262
Genes: Nbeal2 (Mmu)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: gray platelet syndrome
Variant Name: Not Available