rs121912993
|
1.000 |
0.080 |
6 |
7565442 |
missense variant |
T/G
|
snv
|
|
|
Skin Fragility-Woolly Hair Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.800 |
|
0 |
|
|
rs606231294
|
1.000 |
|
6 |
7571471 |
missense variant |
C/T
|
snv
|
|
|
CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS
|
|
0.800 |
|
0 |
|
|
rs606231295
|
0.925 |
0.120 |
6 |
7570553 |
missense variant |
C/T
|
snv
|
|
|
CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS
|
|
0.800 |
|
0 |
|
|
rs1057517903
|
0.882 |
0.120 |
6 |
7575294 |
splice acceptor variant |
G/C
|
snv
|
|
|
Arrhythmogenic Right Ventricular Dysplasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1057518920
|
0.925 |
0.080 |
6 |
7575386 |
stop gained |
C/A
|
snv
|
|
|
Bicuspid aortic valve
|
Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1057518920
|
0.925 |
0.080 |
6 |
7575386 |
stop gained |
C/A
|
snv
|
|
|
Sudden Cardiac Death
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1057518920
|
0.925 |
0.080 |
6 |
7575386 |
stop gained |
C/A
|
snv
|
|
|
Ventricular Fibrillation
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1057518920
|
0.925 |
0.080 |
6 |
7575386 |
stop gained |
C/A
|
snv
|
|
|
Dilatation of aorta
|
Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1057518920
|
0.925 |
0.080 |
6 |
7575386 |
stop gained |
C/A
|
snv
|
|
|
Electrocardiogram change
|
|
0.700 |
|
0 |
|
|
rs1060500607
|
1.000 |
0.080 |
6 |
7583006 |
frameshift variant |
-/T
|
delins
|
|
|
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1060500609
|
1.000 |
0.080 |
6 |
7569185 |
splice acceptor variant |
G/T
|
snv
|
|
|
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1060500610
|
1.000 |
0.080 |
6 |
7581012 |
stop gained |
C/T
|
snv
|
|
|
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1060500613
|
1.000 |
0.080 |
6 |
7571563 |
frameshift variant |
G/-
|
delins
|
|
|
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1060500618
|
1.000 |
0.080 |
6 |
7575460 |
stop gained |
C/T
|
snv
|
|
|
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1135401735
|
1.000 |
0.080 |
6 |
7581241 |
missense variant |
A/G
|
snv
|
|
|
Hereditary bundle branch system defect
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1184921987
|
1.000 |
|
6 |
7571528 |
missense variant |
A/C;G
|
snv
|
|
|
CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS
|
|
0.700 |
|
0 |
|
|
rs1194358112
|
0.925 |
0.120 |
6 |
7584502 |
stop gained |
G/C;T
|
snv
|
4.0E-06
|
|
Cardiomyopathy dilated with Woolly hair and keratoderma
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1194358112
|
0.925 |
0.120 |
6 |
7584502 |
stop gained |
G/C;T
|
snv
|
4.0E-06
|
|
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs121912991
|
1.000 |
0.080 |
6 |
7566428 |
stop gained |
C/G;T
|
snv
|
4.0E-06
|
|
KERATOSIS PALMOPLANTARIS STRIATA II
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs121912994
|
1.000 |
0.080 |
6 |
7574786 |
stop gained |
T/A
|
snv
|
|
|
Skin Fragility-Woolly Hair Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs121912995
|
1.000 |
0.080 |
6 |
7571928 |
stop gained |
C/T
|
snv
|
|
|
Skin Fragility-Woolly Hair Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs121912996
|
1.000 |
0.080 |
6 |
7583062 |
stop gained |
C/A;T
|
snv
|
|
|
Epidermolysis bullosa, lethal acantholytic
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs121912997
|
0.925 |
0.160 |
6 |
7579989 |
stop gained |
C/G;T
|
snv
|
|
|
Long QT Syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs121912997
|
0.925 |
0.160 |
6 |
7579989 |
stop gained |
C/G;T
|
snv
|
|
|
Cardiomyopathy, Dilated
|
Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs121912997
|
0.925 |
0.160 |
6 |
7579989 |
stop gained |
C/G;T
|
snv
|
|
|
Cardiomyopathy dilated with Woolly hair and keratoderma
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|