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: rs121434590
rs121434590
MYH8 ; MYHAS
0.882 0.240 17 10406924 missense variant C/T snv 1.4E-05
CUI: C0265226
Disease: Hecht syndrome (disorder)
Hecht syndrome (disorder) 		0.820 1.000 0 2004 2017
dbSNP: rs121434589
rs121434589
MYH2 ; MYHAS
0.851 0.200 17 10535137 missense variant C/T snv
CUI: C1854106
Disease: INCLUSION BODY MYOPATHY 3, AUTOSOMAL DOMINANT
INCLUSION BODY MYOPATHY 3, AUTOSOMAL DOMINANT 		0.800 1.000 0 2000 2014
dbSNP: rs121434590
rs121434590
MYH8 ; MYHAS
0.882 0.240 17 10406924 missense variant C/T snv 1.4E-05
CUI: C1837245
Disease: Carney Complex Variant
Carney Complex Variant 		0.800 1.000 0 2004 2004
dbSNP: rs1349048266
rs1349048266
MYH2 ; MYHAS
1.000 0.160 17 10535192 splice acceptor variant T/A snv 4.0E-06 7.0E-06
CUI: C1854106
Disease: INCLUSION BODY MYOPATHY 3, AUTOSOMAL DOMINANT
INCLUSION BODY MYOPATHY 3, AUTOSOMAL DOMINANT 		0.700 1.000 3 2010 2014
dbSNP: rs567336764
rs567336764
MYH2 ; MYHAS
1.000 0.160 17 10525450 splice donor variant C/A;G;T snv 1.6E-05
CUI: C1854106
Disease: INCLUSION BODY MYOPATHY 3, AUTOSOMAL DOMINANT
INCLUSION BODY MYOPATHY 3, AUTOSOMAL DOMINANT 		0.700 1.000 3 2010 2014
dbSNP: rs770945288
rs770945288
MYH2 ; MYHAS
1.000 0.160 17 10543710 splice donor variant C/G;T snv 8.0E-06
CUI: C1854106
Disease: INCLUSION BODY MYOPATHY 3, AUTOSOMAL DOMINANT
INCLUSION BODY MYOPATHY 3, AUTOSOMAL DOMINANT 		0.700 1.000 3 2010 2014
dbSNP: rs200662973
rs200662973
MYH2 ; MYHAS
1.000 0.160 17 10533312 missense variant A/G snv 7.5E-04 3.4E-04
CUI: C1854106
Disease: INCLUSION BODY MYOPATHY 3, AUTOSOMAL DOMINANT
INCLUSION BODY MYOPATHY 3, AUTOSOMAL DOMINANT 		0.700 1.000 1 2012 2012
dbSNP: rs138393827
rs138393827
MYH2 ; MYHAS
1.000 0.160 17 10524954 missense variant G/T snv 2.7E-03 8.7E-04
CUI: C1854106
Disease: INCLUSION BODY MYOPATHY 3, AUTOSOMAL DOMINANT
INCLUSION BODY MYOPATHY 3, AUTOSOMAL DOMINANT 		0.700 0
dbSNP: rs147708782
rs147708782
MYH2 ; MYHAS
1.000 0.160 17 10543746 missense variant C/T snv 1.6E-05 7.0E-06
CUI: C1854106
Disease: INCLUSION BODY MYOPATHY 3, AUTOSOMAL DOMINANT
INCLUSION BODY MYOPATHY 3, AUTOSOMAL DOMINANT 		0.700 0
dbSNP: rs1567730339
rs1567730339
MYH2 ; MYHAS
1.000 0.160 17 10529667 frameshift variant A/- del
CUI: C1854106
Disease: INCLUSION BODY MYOPATHY 3, AUTOSOMAL DOMINANT
INCLUSION BODY MYOPATHY 3, AUTOSOMAL DOMINANT 		0.700 0
dbSNP: rs376357016
rs376357016
MYH2 ; MYHAS
1.000 0.160 17 10528974 missense variant C/T snv 2.0E-05 2.1E-05
CUI: C1854106
Disease: INCLUSION BODY MYOPATHY 3, AUTOSOMAL DOMINANT
INCLUSION BODY MYOPATHY 3, AUTOSOMAL DOMINANT 		0.700 0
dbSNP: rs545623839
rs545623839
MYH2 ; MYHAS
1.000 0.160 17 10533349 stop gained G/A snv 2.4E-05
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 0
dbSNP: rs545623839
rs545623839
MYH2 ; MYHAS
1.000 0.160 17 10533349 stop gained G/A snv 2.4E-05
CUI: C1854106
Disease: INCLUSION BODY MYOPATHY 3, AUTOSOMAL DOMINANT
INCLUSION BODY MYOPATHY 3, AUTOSOMAL DOMINANT 		0.700 0
dbSNP: rs746770617
rs746770617
MYH2 ; MYHAS
1.000 0.160 17 10535367 splice acceptor variant T/C snv 2.4E-05 1.4E-05
CUI: C1854106
Disease: INCLUSION BODY MYOPATHY 3, AUTOSOMAL DOMINANT
INCLUSION BODY MYOPATHY 3, AUTOSOMAL DOMINANT 		0.700 0
dbSNP: rs756953958
rs756953958
MYH2 ; MYHAS
1.000 0.160 17 10544100 missense variant G/A snv 8.0E-06 7.0E-06
CUI: C1854106
Disease: INCLUSION BODY MYOPATHY 3, AUTOSOMAL DOMINANT
INCLUSION BODY MYOPATHY 3, AUTOSOMAL DOMINANT 		0.700 0
dbSNP: rs758264018
rs758264018
MYH2 ; MYHAS
1.000 0.160 17 10529185 stop gained G/A;T snv 4.0E-06; 1.2E-05
CUI: C1854106
Disease: INCLUSION BODY MYOPATHY 3, AUTOSOMAL DOMINANT
INCLUSION BODY MYOPATHY 3, AUTOSOMAL DOMINANT 		0.700 0
dbSNP: rs758395765
rs758395765
MYH2 ; MYHAS
1.000 0.160 17 10533321 stop gained A/T snv 1.3E-04 1.7E-04
CUI: C1854106
Disease: INCLUSION BODY MYOPATHY 3, AUTOSOMAL DOMINANT
INCLUSION BODY MYOPATHY 3, AUTOSOMAL DOMINANT 		0.700 0
dbSNP: rs762121316
rs762121316
MYH2 ; MYHAS
1.000 0.160 17 10533379 stop gained G/A;T snv 1.6E-05
CUI: C1854106
Disease: INCLUSION BODY MYOPATHY 3, AUTOSOMAL DOMINANT
INCLUSION BODY MYOPATHY 3, AUTOSOMAL DOMINANT 		0.700 0
dbSNP: rs763860580
rs763860580
MYH2 ; MYHAS
1.000 0.160 17 10531657 frameshift variant -/T delins 4.0E-06; 4.0E-06 7.0E-06
CUI: C1854106
Disease: INCLUSION BODY MYOPATHY 3, AUTOSOMAL DOMINANT
INCLUSION BODY MYOPATHY 3, AUTOSOMAL DOMINANT 		0.700 0
dbSNP: rs786201023
rs786201023
MYH2 ; MYHAS
1.000 0.160 17 10523154 missense variant A/G snv
CUI: C1854106
Disease: INCLUSION BODY MYOPATHY 3, AUTOSOMAL DOMINANT
INCLUSION BODY MYOPATHY 3, AUTOSOMAL DOMINANT 		0.700 0
dbSNP: rs797045096
rs797045096
MYH2 ; MYHAS
1.000 0.160 17 10529679 frameshift variant T/- del
CUI: C1854106
Disease: INCLUSION BODY MYOPATHY 3, AUTOSOMAL DOMINANT
INCLUSION BODY MYOPATHY 3, AUTOSOMAL DOMINANT 		0.700 0
dbSNP: rs879255253
rs879255253
MYH2 ; MYHAS
1.000 0.160 17 10542874 splice donor variant C/A;G;T snv 4.0E-06; 4.0E-06
CUI: C1854106
Disease: INCLUSION BODY MYOPATHY 3, AUTOSOMAL DOMINANT
INCLUSION BODY MYOPATHY 3, AUTOSOMAL DOMINANT 		0.700 0
dbSNP: rs879255254
rs879255254
MYH2 ; MYHAS
1.000 0.160 17 10533326 frameshift variant C/- delins
CUI: C1854106
Disease: INCLUSION BODY MYOPATHY 3, AUTOSOMAL DOMINANT
INCLUSION BODY MYOPATHY 3, AUTOSOMAL DOMINANT 		0.700 0
dbSNP: rs929311433
rs929311433
MYH2 ; MYHAS
1.000 0.160 17 10525451 stop gained G/A snv 2.1E-05
CUI: C1854106
Disease: INCLUSION BODY MYOPATHY 3, AUTOSOMAL DOMINANT
INCLUSION BODY MYOPATHY 3, AUTOSOMAL DOMINANT 		0.700 0