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: rs387906657
rs387906657
MYBPC1
0.925 0.080 12 101642459 missense variant T/C snv 7.0E-06
CUI: C3280526
Disease: ARTHROGRYPOSIS, DISTAL, TYPE 1B
ARTHROGRYPOSIS, DISTAL, TYPE 1B 		0.800 1.000 0 2010 2016
dbSNP: rs1421405659
rs1421405659
MYBPC1
0.851 0.360 12 101642529 missense variant T/C;G snv
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		0.700 0
dbSNP: rs1421405659
rs1421405659
MYBPC1
0.851 0.360 12 101642529 missense variant T/C;G snv
CUI: C1837142
Disease: Poor suck
Poor suck 		0.700 0
dbSNP: rs1421405659
rs1421405659
MYBPC1
0.851 0.360 12 101642529 missense variant T/C;G snv
CUI: C4281993
Disease: Neonatal respiratory distress
Neonatal respiratory distress 		0.700 0
dbSNP: rs1421405659
rs1421405659
MYBPC1
0.851 0.360 12 101642529 missense variant T/C;G snv
CUI: C0040822
Disease: Tremor
Tremor 		0.700 0
dbSNP: rs1421405659
rs1421405659
MYBPC1
0.851 0.360 12 101642529 missense variant T/C;G snv
CUI: C0264303
Disease: Laryngomalacia
Laryngomalacia 		0.700 0
dbSNP: rs1421405659
rs1421405659
MYBPC1
0.851 0.360 12 101642529 missense variant T/C;G snv
CUI: C1836038
Disease: Poor head control
Poor head control 		0.700 0
dbSNP: rs1421405659
rs1421405659
MYBPC1
0.851 0.360 12 101642529 missense variant T/C;G snv
CUI: C4025281
Disease: Neonatal inspiratory stridor
Neonatal inspiratory stridor 		0.700 0
dbSNP: rs1421405659
rs1421405659
MYBPC1
0.851 0.360 12 101642529 missense variant T/C;G snv
CUI: C2267233
Disease: Neonatal Hypotonia
Neonatal Hypotonia 		0.700 0
dbSNP: rs1421405659
rs1421405659
MYBPC1
0.851 0.360 12 101642529 missense variant T/C;G snv
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		0.700 0
dbSNP: rs1421405659
rs1421405659
MYBPC1
0.851 0.360 12 101642529 missense variant T/C;G snv
CUI: C0239548
Disease: Fasciculation, Tongue
Fasciculation, Tongue 		0.700 0
dbSNP: rs1421405659
rs1421405659
MYBPC1
0.851 0.360 12 101642529 missense variant T/C;G snv
CUI: C4072904
Disease: Secondary Caesarian section
Secondary Caesarian section 		0.700 0
dbSNP: rs1421405659
rs1421405659
MYBPC1
0.851 0.360 12 101642529 missense variant T/C;G snv
CUI: C0281890
Disease: Laryngeal web
Laryngeal web 		0.700 0
dbSNP: rs1421405659
rs1421405659
MYBPC1
0.851 0.360 12 101642529 missense variant T/C;G snv
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		0.700 0
dbSNP: rs1555242493
rs1555242493
MYBPC1 ; LOC105369937
1.000 0.080 12 101653159 missense variant G/C snv
CUI: C0265213
Disease: Distal arthrogryposis syndrome
Distal arthrogryposis syndrome 		0.700 0
dbSNP: rs397515422
rs397515422
MYBPC1
1.000 12 101644783 stop gained C/T snv 4.0E-06 7.0E-06
CUI: C3554046
Disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 4
LETHAL CONGENITAL CONTRACTURE SYNDROME 4 		0.700 0
dbSNP: rs564856283
rs564856283
MYBPC1
12 101642495 missense variant G/A;C snv 3.2E-05
CUI: C1858025
Disease: Spinal rigidity
Spinal rigidity 		0.700 0
dbSNP: rs564856283
rs564856283
MYBPC1
12 101642495 missense variant G/A;C snv 3.2E-05
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 0
dbSNP: rs564856283
rs564856283
MYBPC1
12 101642495 missense variant G/A;C snv 3.2E-05
CUI: C0040822
Disease: Tremor
Tremor 		0.700 0