Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs977277400
rs977277400
MYBPC3
11 47336012 splice acceptor variant C/G snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 7 1995 2013
dbSNP: rs977277400
rs977277400
MYBPC3
11 47336012 splice acceptor variant C/G snv
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 7 1995 2013
dbSNP: rs1565623093
rs1565623093
MYBPC3
11 47333209 frameshift variant G/- delins
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0
dbSNP: rs1565623439
rs1565623439
MYBPC3
11 47333627 frameshift variant TGAAT/- del
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0
dbSNP: rs1565623713
rs1565623713
MYBPC3
11 47333996 frameshift variant -/A delins
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0
dbSNP: rs1565626367
rs1565626367
MYBPC3
11 47339656 frameshift variant -/ATAG delins
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0
dbSNP: rs1565627110
rs1565627110
MYBPC3
11 47341145 frameshift variant G/- del
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0
dbSNP: rs1565627145
rs1565627145
MYBPC3
11 47341183 frameshift variant -/C delins
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0
dbSNP: rs1565628520
rs1565628520
MYBPC3
11 47343585 stop gained -/GCTCACCTGGTAGGCCGGCTCCAGCTTCT delins
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0
dbSNP: rs397515939
rs397515939
MYBPC3
11 47339758 missense variant G/A;C snv 8.0E-06
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs730880655
rs730880655
MYBPC3
11 47336010 frameshift variant A/- del
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0
dbSNP: rs730880671
rs730880671
MYBPC3
11 47333221 frameshift variant GT/- delins
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0
dbSNP: rs730880675
rs730880675
MYBPC3
11 47332823 frameshift variant ATAAAGACGG/- delins
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0
dbSNP: rs730880689
rs730880689
MYBPC3
11 47343543 stop gained -/TGGTCAGCCAGTTCCA delins
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0
dbSNP: rs730880714
rs730880714
MYBPC3
11 47337721 frameshift variant C/- del
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0
dbSNP: rs730880715
rs730880715
MYBPC3
11 47337450 frameshift variant G/- del
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0
dbSNP: rs730880717
rs730880717
MYBPC3
11 47335038 splice donor variant TCACGCAGGATCTCCT/- del
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0
dbSNP: rs730880718
rs730880718
MYBPC3
11 47333553 splice donor variant CCAACAACCTGCA/- delins
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0
dbSNP: rs730880719
rs730880719
MYBPC3
11 47333197 frameshift variant G/- delins
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0
dbSNP: rs876657704
rs876657704
MYBPC3
11 47337489 frameshift variant C/- del
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs121909374
rs121909374
MYBPC3
0.790 0.120 11 47342578 stop gained C/A;G snv 1.3E-05
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.800 1.000 36 1990 2017
dbSNP: rs121909374
rs121909374
MYBPC3
0.790 0.120 11 47342578 stop gained C/A;G snv 1.3E-05
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.700 1.000 24 1990 2015
dbSNP: rs121909374
rs121909374
MYBPC3
0.790 0.120 11 47342578 stop gained C/A;G snv 1.3E-05
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 1.000 16 1997 2017
dbSNP: rs121909374
rs121909374
MYBPC3
0.790 0.120 11 47342578 stop gained C/A;G snv 1.3E-05
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 11 1997 2017
dbSNP: rs121909374
rs121909374
MYBPC3
0.790 0.120 11 47342578 stop gained C/A;G snv 1.3E-05
CUI: C3715165
Disease: LEFT VENTRICULAR NONCOMPACTION 10
LEFT VENTRICULAR NONCOMPACTION 10 		0.700 1.000 4 1997 2013