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: rs121913618
rs121913618
MYH3
0.925 0.080 17 10641318 missense variant G/A snv
CUI: C0265224
Disease: Freeman-Sheldon syndrome
Freeman-Sheldon syndrome 		0.820 1.000 0 2006 2015
dbSNP: rs121913619
rs121913619
MYH3
0.882 0.080 17 10650374 missense variant G/A;T snv 4.0E-06
CUI: C0265224
Disease: Freeman-Sheldon syndrome
Freeman-Sheldon syndrome 		0.810 1.000 3 2006 2019
dbSNP: rs121913617
rs121913617
MYH3
1.000 0.080 17 10641317 missense variant C/T snv
CUI: C0265224
Disease: Freeman-Sheldon syndrome
Freeman-Sheldon syndrome 		0.810 1.000 0 2006 2016
dbSNP: rs796051884
rs796051884
MYH3
1.000 0.080 17 10639068 missense variant T/G snv
CUI: C1867440
Disease: Multiple Pterygium Syndrome, Autosomal Dominant
Multiple Pterygium Syndrome, Autosomal Dominant 		0.800 1.000 1 2015 2015
dbSNP: rs121913620
rs121913620
MYH3
1.000 0.080 17 10640204 missense variant A/T snv
CUI: C0265224
Disease: Freeman-Sheldon syndrome
Freeman-Sheldon syndrome 		0.800 1.000 0 2006 2008
dbSNP: rs1555527166
rs1555527166
MYH3
0.925 0.080 17 10648563 inframe deletion GAG/- delins
CUI: C1867440
Disease: Multiple Pterygium Syndrome, Autosomal Dominant
Multiple Pterygium Syndrome, Autosomal Dominant 		0.700 1.000 1 2015 2015
dbSNP: rs1567559562
rs1567559562
MYH3
1.000 0.080 17 10645933 missense variant G/C snv
CUI: C1867440
Disease: Multiple Pterygium Syndrome, Autosomal Dominant
Multiple Pterygium Syndrome, Autosomal Dominant 		0.700 1.000 1 2016 2016
dbSNP: rs1567560080
rs1567560080
MYH3
1.000 0.080 17 10647221 missense variant A/C snv
CUI: C1867440
Disease: Multiple Pterygium Syndrome, Autosomal Dominant
Multiple Pterygium Syndrome, Autosomal Dominant 		0.700 1.000 1 2018 2018
dbSNP: rs878853126
rs878853126
MYH3
1.000 0.080 17 10639075 inframe insertion -/ATT delins
CUI: C1867440
Disease: Multiple Pterygium Syndrome, Autosomal Dominant
Multiple Pterygium Syndrome, Autosomal Dominant 		0.700 1.000 1 2015 2015
dbSNP: rs121913623
rs121913623
MYH3
0.882 0.080 17 10648592 missense variant C/T snv 7.0E-06
CUI: C1834523
Disease: ARTHROGRYPOSIS, DISTAL, TYPE 2B
ARTHROGRYPOSIS, DISTAL, TYPE 2B 		0.700 0
dbSNP: rs121913623
rs121913623
MYH3
0.882 0.080 17 10648592 missense variant C/T snv 7.0E-06
CUI: C1867440
Disease: Multiple Pterygium Syndrome, Autosomal Dominant
Multiple Pterygium Syndrome, Autosomal Dominant 		0.700 0
dbSNP: rs121913623
rs121913623
MYH3
0.882 0.080 17 10648592 missense variant C/T snv 7.0E-06
CUI: C0265224
Disease: Freeman-Sheldon syndrome
Freeman-Sheldon syndrome 		0.700 0
dbSNP: rs1350968647
rs1350968647
MYH3
0.851 0.080 17 10642825 splice donor variant C/T snv 7.0E-06
CUI: C1411006
Disease: Finger contracture
Finger contracture 		0.700 0
dbSNP: rs1350968647
rs1350968647
MYH3
0.851 0.080 17 10642825 splice donor variant C/T snv 7.0E-06
CUI: C1737329
Disease: Dysmorphism
Dysmorphism 		0.700 0
dbSNP: rs1350968647
rs1350968647
MYH3
0.851 0.080 17 10642825 splice donor variant C/T snv 7.0E-06
CUI: C1848934
Disease: SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME
SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME 		0.700 0
dbSNP: rs1350968647
rs1350968647
MYH3
0.851 0.080 17 10642825 splice donor variant C/T snv 7.0E-06
CUI: C1867440
Disease: Multiple Pterygium Syndrome, Autosomal Dominant
Multiple Pterygium Syndrome, Autosomal Dominant 		0.700 0
dbSNP: rs1350968647
rs1350968647
MYH3
0.851 0.080 17 10642825 splice donor variant C/T snv 7.0E-06
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.700 0
dbSNP: rs1555525264
rs1555525264
MYH3
1.000 0.080 17 10632606 missense variant C/T snv
CUI: C1834523
Disease: ARTHROGRYPOSIS, DISTAL, TYPE 2B
ARTHROGRYPOSIS, DISTAL, TYPE 2B 		0.700 0
dbSNP: rs1555527166
rs1555527166
MYH3
0.925 0.080 17 10648563 inframe deletion GAG/- delins
CUI: C1848934
Disease: SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME
SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME 		0.700 0
dbSNP: rs1567552713
rs1567552713
MYH3
0.827 0.120 17 10633590 splice donor variant C/T snv
CUI: C0221352
Disease: Syndactyly of fingers
Syndactyly of fingers 		0.700 0
dbSNP: rs1567552713
rs1567552713
MYH3
0.827 0.120 17 10633590 splice donor variant C/T snv
CUI: C1411006
Disease: Finger contracture
Finger contracture 		0.700 0
dbSNP: rs1567552713
rs1567552713
MYH3
0.827 0.120 17 10633590 splice donor variant C/T snv
CUI: C1848934
Disease: SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME
SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME 		0.700 0
dbSNP: rs1567552713
rs1567552713
MYH3
0.827 0.120 17 10633590 splice donor variant C/T snv
CUI: C0521525
Disease: Short neck
Short neck 		0.700 0
dbSNP: rs1567552713
rs1567552713
MYH3
0.827 0.120 17 10633590 splice donor variant C/T snv
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.700 0
dbSNP: rs1567552713
rs1567552713
MYH3
0.827 0.120 17 10633590 splice donor variant C/T snv
CUI: C1737329
Disease: Dysmorphism
Dysmorphism 		0.700 0