rs387906781
MYLK;MYLK-AS1
AORTIC ANEURYSM, FAMILIAL THORACIC 7
G
0.800
CausalMutation
CLINVAR
rs1060502531
×
Entrez Id:
4638
Gene Symbol:
MYLK
MYLK
AORTIC ANEURYSM, FAMILIAL THORACIC 7
A
0.700
GeneticVariation
CLINVAR
rs150936840
MYLK;LOC105369194
AORTIC ANEURYSM, FAMILIAL THORACIC 7
A
0.700
GeneticVariation
CLINVAR
rs1553780501
×
Entrez Id:
4638
Gene Symbol:
MYLK
MYLK
AORTIC ANEURYSM, FAMILIAL THORACIC 7
C
0.700
GeneticVariation
CLINVAR
rs1553808296
MYLK;LOC105369194
Aneurysm
G
0.700
GeneticVariation
CLINVAR
rs1553808296
MYLK;LOC105369194
Familial thoracic aortic aneurysm and aortic dissection
G
0.700
GeneticVariation
CLINVAR
rs387906781
MYLK;MYLK-AS1
Familial thoracic aortic aneurysm and aortic dissection
G
0.700
GeneticVariation
CLINVAR
rs387906782
×
Entrez Id:
4638
Gene Symbol:
MYLK
MYLK
AORTIC ANEURYSM, FAMILIAL THORACIC 7
A
0.700
CausalMutation
CLINVAR
rs778050996
×
Entrez Id:
4638
Gene Symbol:
MYLK
MYLK
AORTIC ANEURYSM, FAMILIAL THORACIC 7
A
0.700
GeneticVariation
CLINVAR
rs928811814
×
Entrez Id:
4638
Gene Symbol:
MYLK
MYLK
AORTIC ANEURYSM, FAMILIAL THORACIC 7
A
0.700
GeneticVariation
CLINVAR
rs368390254
×
Entrez Id:
4638
Gene Symbol:
MYLK
MYLK
AORTIC ANEURYSM, FAMILIAL THORACIC 7
0.700
GeneticVariation
UNIPROT
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
25356965
2015
rs368390254
×
Entrez Id:
4638
Gene Symbol:
MYLK
MYLK
AORTIC ANEURYSM, FAMILIAL THORACIC 7
0.700
GeneticVariation
UNIPROT
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
23788249
2013
rs368390254
×
Entrez Id:
4638
Gene Symbol:
MYLK
MYLK
AORTIC ANEURYSM, FAMILIAL THORACIC 7
0.700
GeneticVariation
UNIPROT
Canadian Cardiovascular Society position statement on the management of thoracic aortic disease.
24882528
2014
rs1302330903
MYLK;LOC105369194
Tracheal Diseases
0.010
GeneticVariation
BEFREE
Carbachol concentration/temporal-force responses were similar in trachea from MYPT1<sup>SM+/+</sup> , MYPT1<sup>SM-/-</sup> and the knock-in mutant mice containing nonphosphorylatable MYPT1 T853A with no differences in RLC phosphorylation.
28749013
2017
rs9840993
×
Entrez Id:
4638
Gene Symbol:
MYLK
MYLK
Asthma
0.030
GeneticVariation
BEFREE
Finally, nmMLCK expression of 721C- and 721T-containing MYLK transgenes were compared in nmMLCK(-/-) mice and confirmed deleterious effects of nmMLCK expression on asthmatic indices and implicated the augmented influence of MYLK 721C>T (c.439C>T ) SNP on asthma severity.
25271083
2015
rs1553787619
×
Entrez Id:
4638
Gene Symbol:
MYLK
MYLK
Visceral Myopathy
A
0.700
CausalMutation
CLINVAR
Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome.
28602422
2017
rs1553787619
×
Entrez Id:
4638
Gene Symbol:
MYLK
MYLK
Megacystis
A
0.700
CausalMutation
CLINVAR
Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome.
28602422
2017
rs1553787823
×
Entrez Id:
4638
Gene Symbol:
MYLK
MYLK
Fetal megacystis
TCGCTTTC
0.700
CausalMutation
CLINVAR
Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome.
28602422
2017
rs1553787823
×
Entrez Id:
4638
Gene Symbol:
MYLK
MYLK
Visceral Myopathy
TCGCTTTC
0.700
CausalMutation
CLINVAR
Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome.
28602422
2017
rs1553787823
×
Entrez Id:
4638
Gene Symbol:
MYLK
MYLK
Abnormality of the bladder
TCGCTTTC
0.700
CausalMutation
CLINVAR
Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome.
28602422
2017
rs1553787823
×
Entrez Id:
4638
Gene Symbol:
MYLK
MYLK
Microcolon
TCGCTTTC
0.700
CausalMutation
CLINVAR
Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome.
28602422
2017
rs387906781
MYLK;MYLK-AS1
AORTIC ANEURYSM, FAMILIAL THORACIC 7
0.800
GeneticVariation
UNIPROT
Mutations in myosin light chain kinase cause familial aortic dissections.
21055718
2010
rs1382893400
×
Entrez Id:
4638
Gene Symbol:
MYLK
MYLK
AORTIC ANEURYSM, FAMILIAL THORACIC 7
A
0.700
CausalMutation
CLINVAR
Mutations in myosin light chain kinase cause familial aortic dissections.
21055718
2010
rs1430822242
×
Entrez Id:
4638
Gene Symbol:
MYLK
MYLK
AORTIC ANEURYSM, FAMILIAL THORACIC 7
T
0.700
GeneticVariation
CLINVAR
Mutations in myosin light chain kinase cause familial aortic dissections.
21055718
2010
rs1553785222
×
Entrez Id:
4638
Gene Symbol:
MYLK
MYLK
AORTIC ANEURYSM, FAMILIAL THORACIC 7
TG
0.700
GeneticVariation
CLINVAR
Mutations in myosin light chain kinase cause familial aortic dissections.
21055718
2010