Version: 8.0.0Date: Tue Jan 28 2025
Allele/Variant
Species
Category
Variant Type
Molecular Consequence
Diseases
Genes
Construct Expressed Component
Construct Knockdown Component
Construct Regulatory Region
Allele/Variant Diseases: hypertrophic cardiomyopathy
Tg(Ckmm-Cav3)1Ysu
(Mus musculus)Allele/Variant
Source: MGI:2180562
Genes: Not Available
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: rippling muscle disease 2, hypertrophic cardiomyopathy
Variant Name: Not Available
OraiCA.UAS
(Drosophila melanogaster)Allele/Variant
Source: FB:FBal0371792
Genes: Not Available
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: hypertrophic cardiomyopathy
Variant Name: Not Available
Cav1tm1Mls
(Mus musculus)Allele/Variant
Source: MGI:2180364
Genes: Cav1 (Mmu)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: breast cancer, hypertrophic cardiomyopathy, Alzheimer's disease
Variant Name: Not Available
Tg(Myh6-TNNT2*I79N)8Jdp
(Mus musculus)Allele/Variant
Source: MGI:3793476
Genes: Not Available
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: hypertrophic cardiomyopathy 2
Variant Name: Not Available
Tg(Myh6-MYOZ2*I246M)#Ajm
(Mus musculus)Allele/Variant
Source: MGI:5581489
Genes: Not Available
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: hypertrophic cardiomyopathy 16
Variant Name: Not Available
Lamp2em1
(Rattus norvegicus)Allele/Variant
Source: RGD:13703121
Genes: Lamp2 (Rno)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: cholestasis, cognitive disorder, chronic conjunctivitis, hypertrophic cardiomyopathy, Danon disease
Variant Name: Not Available
Tg(Myh6-Tnni3*L184)#Rste
(Mus musculus)Allele/Variant
Source: MGI:5910501
Genes: Not Available
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: hypertrophic cardiomyopathy 7
Variant Name: Not Available
Tg(Myh6-MYPN*Y20C)#Jato
(Mus musculus)Allele/Variant
Source: MGI:5319508
Genes: Not Available
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: hypertrophic cardiomyopathy
Variant Name: Not Available
Mybpc3tm1Rmos
(Mus musculus)Allele/Variant
Source: MGI:3526881
Genes: Mybpc3 (Mmu)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: hypertrophic cardiomyopathy 4
Variant Name: Not Available
Tg(Myh6-Tnni3*R146G)121Rbns
(Mus musculus)Allele/Variant
Source: MGI:5909328
Genes: Not Available
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: hypertrophic cardiomyopathy 7
Variant Name: Not Available
Tg(Myh6-MYL2*E22K)4Dsc
(Mus musculus)Allele/Variant
Source: MGI:5908892
Genes: Not Available
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: hypertrophic cardiomyopathy 10
Variant Name: Not Available
Tg(Myh6-Tnnt2*R92Q)2Lnwd
(Mus musculus)Allele/Variant
Source: MGI:3692450
Genes: Not Available
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: hypertrophic cardiomyopathy 2
Variant Name: Not Available
Myh6tm3.1Jse
(Mus musculus)Allele/Variant
Source: MGI:4837367
Genes: Myh6 (Mmu)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: hypertrophic cardiomyopathy 14
Variant Name: Not Available
Tg(Myh6-Mybpc3*)32Rbns
(Mus musculus)Allele/Variant
Source: MGI:5908459
Genes: Not Available
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: hypertrophic cardiomyopathy 4
Variant Name: Not Available
Tg(Myh6-Tnnt2)191Lnwd
(Mus musculus)Allele/Variant
Source: MGI:3692603
Genes: Not Available
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: hypertrophic cardiomyopathy 2
Variant Name: Not Available
Ras85DV12.UAS
(Drosophila melanogaster)Allele/Variant
Source: FB:FBal0060587
Genes: Not Available
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: kidney cancer, leukemia, prostate cancer, intestinal cancer, colorectal cancer, carcinoma, heart disease, hypertrophic cardiomyopathy, cancer
Variant Name: Not Available
Tg(Myh6-MYL3*A57G)#Dsc
(Mus musculus)Allele/Variant
Source: MGI:5909257
Genes: Not Available
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: hypertrophic cardiomyopathy 8
Variant Name: Not Available
Mybpc3tm1Lcrr
(Mus musculus)Allele/Variant
Source: MGI:3606208
Genes: Mybpc3 (Mmu)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: hypertrophic cardiomyopathy 4
Variant Name: Not Available
Tg(Myh6-Tpm1*E180G)57Dfw
(Mus musculus)Allele/Variant
Source: MGI:5007645
Genes: Not Available
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: hypertrophic cardiomyopathy 3
Variant Name: Not Available
Nexntm1.1Zhh
(Mus musculus)Allele/Variant
Source: MGI:5780982
Genes: Nexn (Mmu)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: hypertrophic cardiomyopathy 20
Variant Name: Not Available
Tg(Myh6-MYL2*R58Q)#Dsc
(Mus musculus)Allele/Variant
Source: MGI:4820518
Genes: Not Available
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: hypertrophic cardiomyopathy 10
Variant Name: Not Available
Tg(Myh6-MYOZ2*S48P)114Ajm
(Mus musculus)Allele/Variant
Source: MGI:5581488
Genes: Not Available
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: hypertrophic cardiomyopathy 16
Variant Name: Not Available
Tg(Myh6-Tpm1*D175N)#Dfw
(Mus musculus)Allele/Variant
Source: MGI:5462246
Genes: Not Available
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: hypertrophic cardiomyopathy 3
Variant Name: Not Available
Tg(Myh6-Htr2b)1Lum
(Mus musculus)Allele/Variant
Source: MGI:5645783
Genes: Not Available
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: hypertrophic cardiomyopathy
Variant Name: Not Available
Tg(Myh6*)1Lnwd
(Mus musculus)Allele/Variant
Source: MGI:3793766
Genes: Not Available
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: hypertrophic cardiomyopathy 14
Variant Name: Not Available
Mybpc3tm1Jse
(Mus musculus)Allele/Variant
Source: MGI:2654419
Genes: Mybpc3 (Mmu)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: hypertrophic cardiomyopathy 4
Variant Name: Not Available
Mybpc3tm1.1Jse
(Mus musculus)Allele/Variant
Source: MGI:2654420
Genes: Mybpc3 (Mmu)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: hypertrophic cardiomyopathy 4
Variant Name: Not Available
Tg(Tnnt2-TNNT2*R92Q)#Ajm
(Mus musculus)Allele/Variant
Source: MGI:4819718
Genes: Not Available
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: hypertrophic cardiomyopathy 2
Variant Name: Not Available
Tg(Tnnt2-TNNT2*R92Q)M-2Ajm
(Mus musculus)Allele/Variant
Source: MGI:4819719
Genes: Not Available
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: hypertrophic cardiomyopathy 2
Variant Name: Not Available
Tg(Myh6-TNNT2*R92Q)#Ajm
(Mus musculus)Allele/Variant
Source: MGI:4819720
Genes: Not Available
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: hypertrophic cardiomyopathy 2
Variant Name: Not Available
Tg(Myh6-PRKAG2*N488I)4623Jse
(Mus musculus)Allele/Variant
Source: MGI:3841167
Genes: Not Available
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: hypertrophic cardiomyopathy 6
Variant Name: Not Available
Xirp1tm1Jl
(Mus musculus)Allele/Variant
Source: MGI:3521795
Genes: Xirp1 (Mmu)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: hypertrophic cardiomyopathy
Variant Name: Not Available
Mlc2JF01106
(Drosophila melanogaster)Allele/Variant
Source: FB:FBal0245423
Genes: Not Available
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: hypertrophic cardiomyopathy 10
Variant Name: Not Available
Tg(Myh6*)140Lnwd
(Mus musculus)Allele/Variant
Source: MGI:3793715
Genes: Not Available
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: hypertrophic cardiomyopathy 14
Variant Name: Not Available
Pkd1b2b1585Clo
(Mus musculus)Allele/Variant
Source: MGI:5438059
Genes: Pkd1 (Mmu)
Synonyms: Not Available
Variant Type: point_mutation
Molecular Consequence: missense_variant
Diseases: hypertrophic cardiomyopathy, polycystic kidney disease 1
Variant Name: Not Available
Csrp3tm1.1Rkn
(Mus musculus)Allele/Variant
Source: MGI:4947957
Genes: Csrp3 (Mmu)
Synonyms: Not Available
Variant Type: point_mutation
Molecular Consequence: missense_variant
Diseases: hypertrophic cardiomyopathy 12
Variant Name: Not Available
Pepddal
(Mus musculus)Allele/Variant
Source: MGI:2683249
Genes: Pepd (Mmu)
Synonyms: Not Available
Variant Type: delins
Molecular Consequence: frameshift_variant
Diseases: hypertrophic cardiomyopathy
Variant Name: Not Available
Mybpc3tm2.1Lcrr
(Mus musculus)Allele/Variant
Source: MGI:4836388
Genes: Mybpc3 (Mmu)
Synonyms: Not Available
Variant Type: point_mutation
Molecular Consequence: splice_region_variant, missense_variant
Diseases: hypertrophic cardiomyopathy 4
Variant Name: Not Available
Myh6tm2Jse
(Mus musculus)Allele/Variant
Source: MGI:3664197
Genes: Myh6 (Mmu)
Synonyms: Not Available
Variant Type: point_mutation
Molecular Consequence: missense_variant
Diseases: hypertrophic cardiomyopathy 14
Variant Name: Not Available
Csrp3tm1.1Kage
(Mus musculus)Allele/Variant
Source: MGI:7509517
Genes: Csrp3 (Mmu)
Synonyms: Not Available
Variant Type: point_mutation
Molecular Consequence: missense_variant
Diseases: hypertrophic cardiomyopathy
Variant Name: Not Available
Act57BA296S.UAS
(Drosophila melanogaster)Allele/Variant
Source: FB:FBal0335748
Genes: Not Available
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: hypertrophic cardiomyopathy
Variant Name: Not Available
Tg(tetO-Fgfr3*R248C/Fgfr1)#Dor
(Mus musculus)Allele/Variant
Source: MGI:5604241
Genes: Not Available
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: hypertrophic cardiomyopathy
Variant Name: Not Available
Tg(Myh6-TNNI3*G203S)4Chs
(Mus musculus)Allele/Variant
Source: MGI:3690014
Genes: Not Available
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: hypertrophic cardiomyopathy 7
Variant Name: Not Available
Tg(Myh6-CACNA1C)M1Aschw
(Mus musculus)Allele/Variant
Source: MGI:5904804
Genes: Not Available
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: congestive heart failure, hypertrophic cardiomyopathy
Variant Name: Not Available
Tg(Myh6-Tnni3*R146G)133Rbns
(Mus musculus)Allele/Variant
Source: MGI:5909327
Genes: Not Available
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: hypertrophic cardiomyopathy 7
Variant Name: Not Available
Tg(Myh6-TNNI3*G203S)1Chs
(Mus musculus)Allele/Variant
Source: MGI:3690009
Genes: Not Available
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: hypertrophic cardiomyopathy 7
Variant Name: Not Available
Tg(Myh6-MYL2*D166V)1Dsc
(Mus musculus)Allele/Variant
Source: MGI:3838172
Genes: Not Available
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: hypertrophic cardiomyopathy 10
Variant Name: Not Available
Tg(Myh6-Mtpn)4Ssen
(Mus musculus)Allele/Variant
Source: MGI:5284885
Genes: Not Available
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: congestive heart failure, hypertrophic cardiomyopathy
Variant Name: Not Available
Myh6tm1Jse
(Mus musculus)Allele/Variant
Source: MGI:2182704
Genes: Myh6 (Mmu)
Synonyms: Not Available
Variant Type: point_mutation
Molecular Consequence: missense_variant
Diseases: hypertrophic cardiomyopathy 14
Variant Name: Not Available
Hsap\MYL2G162R.UAS
(Drosophila melanogaster)Allele/Variant
Source: FB:FBal0361041
Genes: Not Available
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: hypertrophic cardiomyopathy 10
Variant Name: Not Available