| RS727504989 |
CLDN14
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS727504993 |
SLC26A4
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive nonsyndromic hearing loss 4, Pendred syndrome |
| RS727504995 |
MYO15A
|
Health Risk |
Pathogenic |
Nonsyndromic genetic hearing loss, Rare genetic deafness |
| RS727504998 |
SGCD
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L |
| RS727505004 |
MYO7A
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive nonsyndromic hearing loss 2, Autosomal dominant nonsyndromic hearing loss 11 |
| RS727505006 |
FBN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS727505007 |
DSP
|
Health Risk |
Conflicting classifications of pathogenicity |
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8 |
| RS727505010 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS727505013 |
EDA
|
Health Risk |
Pathogenic |
Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS727505014 |
TTN
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS727505015 |
MYO6
|
Health Risk |
Likely pathogenic |
Rare genetic deafness, Rare genetic deafness |
| RS727505017 |
RAF1
|
Health Risk |
Likely pathogenic |
Noonan syndrome, Primary familial hypertrophic cardiomyopathy |
| RS727505020 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS727505023 |
TNNI3
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS727505024 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS727505026 |
MYH7
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypertrophic cardiomyopathy, Dyspnea |
| RS727505029 |
EMD
|
Health Risk |
Conflicting classifications of pathogenicity |
X-linked Emery-Dreifuss muscular dystrophy, Emery-Dreifuss muscular dystrophy |
| RS727505036 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS727505037 |
DSP
|
Health Risk |
Conflicting classifications of pathogenicity |
Primary dilated cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma |
| RS727505038 |
LMNA
|
Health Risk |
Likely pathogenic |
Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular dysplasia 9 |
| RS727505041 |
ADGRV1
|
Health Risk |
Conflicting classifications of pathogenicity |
Inborn genetic diseases, Inborn genetic diseases |
| RS727505042 |
LAMA4
|
Health Risk |
Conflicting classifications of pathogenicity |
Dilated cardiomyopathy 1JJ, Dilated cardiomyopathy 1JJ |
| RS727505053 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS727505056 |
ADGRV1
|
Health Risk |
Conflicting classifications of pathogenicity |
Inborn genetic diseases, Inborn genetic diseases |
| RS727505057 |
RYR2
|
Health Risk |
Conflicting classifications of pathogenicity |
Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1 |
| RS727505060 |
GLA
|
Health Risk |
Conflicting classifications of pathogenicity |
Fabry disease, Fabry disease |
| RS727505066 |
LDB3
|
Health Risk |
Conflicting classifications of pathogenicity |
Myofibrillar myopathy 4, Myofibrillar myopathy 4 |
| RS727505067 |
RBM20
|
Health Risk |
Conflicting classifications of pathogenicity |
Dilated cardiomyopathy 1DD, Cardiomyopathy |
| RS727505070 |
MYH7
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiomyopathy, Hypertrophic cardiomyopathy |
| RS727505072 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS727505074 |
STRC
|
Health Risk |
Pathogenic |
Rare genetic deafness, Rare genetic deafness |
| RS727505076 |
TTN
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Cardiovascular phenotype |
| RS727505077 |
DSP
|
Health Risk |
Pathogenic/Likely pathogenic |
Arrhythmogenic right ventricular cardiomyopathy, Cardiovascular phenotype |
| RS727505080 |
SLC26A4
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive nonsyndromic hearing loss 4, Pendred syndrome |
| RS727505084 |
KCNQ1
|
Health Risk |
Conflicting classifications of pathogenicity |
Long QT syndrome 1, Atrial fibrillation |
| RS727505088 |
SLC26A4
|
Health Risk |
Pathogenic/Likely pathogenic |
Rare genetic deafness, Pendred syndrome |
| RS727505089 |
EDA
|
Health Risk |
Pathogenic |
Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS727505091 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS727505092 |
SGCD
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive limb-girdle muscular dystrophy type 2F, Inborn genetic diseases |
| RS727505093 |
SOS1
|
Health Risk |
Likely pathogenic |
Noonan syndrome, RASopathy |
| RS727505096 |
OTOF
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS727505097 |
USH2A
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS727505098 |
MYO6
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS727505101 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiovascular phenotype, Dilated cardiomyopathy 1G |
| RS727505104 |
LOXHD1
|
Health Risk |
Pathogenic |
Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 77 |
| RS727505109 |
BAG3
|
Health Risk |
Pathogenic |
Primary dilated cardiomyopathy, Dilated cardiomyopathy 1HH |
| RS727505110 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan syndrome, Marfan syndrome |
| RS727505112 |
ACTN2
|
Health Risk |
Conflicting classifications of pathogenicity |
Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy |
| RS727505115 |
DSP
|
Health Risk |
Pathogenic/Likely pathogenic |
Primary dilated cardiomyopathy, DSP-related disorder |
| RS727505116 |
USH2A
|
Health Risk |
Pathogenic |
Retinitis pigmentosa, Usher syndrome |
| RS727505124 |
NEXN
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiomyopathy, Cardiovascular phenotype |
| RS727505132 |
MYH7
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS727505144 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Dilated cardiomyopathy 1G, Early-onset myopathy with fatal cardiomyopathy |
| RS727505146 |
ACTN2
|
Health Risk |
Conflicting classifications of pathogenicity |
Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy |
| RS727505148 |
MYH7
|
Health Risk |
Likely pathogenic |
— |
| RS727505152 |
MYBPC3
|
Health Risk |
Pathogenic |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS727505155 |
USH2A
|
Health Risk |
Conflicting classifications of pathogenicity |
Usher syndrome type 2A, Retinitis pigmentosa 39 |
| RS727505158 |
SCN5A
|
Health Risk |
Pathogenic |
Brugada syndrome, Brugada syndrome 1 |
| RS727505166 |
USH2A
|
Health Risk |
Conflicting classifications of pathogenicity |
Usher syndrome type 2A, Retinitis pigmentosa 39 |
| RS727505170 |
USH2A
|
Health Risk |
Conflicting classifications of pathogenicity |
Retinitis pigmentosa 39, Usher syndrome type 2A |
| RS727505176 |
MYH7
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypertrophic cardiomyopathy, Cardiomyopathy |
| RS727505178 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS727505188 |
WHRN
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS727505189 |
OTOF
|
Health Risk |
Conflicting classifications of pathogenicity |
Inborn genetic diseases, Inborn genetic diseases |
| RS727505196 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS727505197 |
MYL3
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypertrophic cardiomyopathy 8, Cardiomyopathy |
| RS727505199 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS727505200 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS727505201 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS727505202 |
MYH7
|
Health Risk |
Likely pathogenic |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 1 |
| RS727505205 |
DSG2
|
Health Risk |
Conflicting classifications of pathogenicity |
Arrhythmogenic right ventricular dysplasia 10, Cardiovascular phenotype |
| RS727505215 |
RYR2
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiomyopathy, Cardiovascular phenotype |
| RS727505221 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS727505222 |
ATP6V1B1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hearing impairment, Renal tubular acidosis with progressive nerve deafness |
| RS727505224 |
TTN
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Cardiovascular phenotype |
| RS727505230 |
SLC26A4
|
Health Risk |
Conflicting classifications of pathogenicity |
Rare genetic deafness, Rare genetic deafness |
| RS727505232 |
MYO7A
|
Health Risk |
Conflicting classifications of pathogenicity |
Usher syndrome type 1B, MYO7A-related disorder |
| RS727505236 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS727505237 |
TNNC1
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiomyopathy, Dilated cardiomyopathy 1Z |
| RS727505242 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS727505246 |
POU3F4
|
Health Risk |
Likely pathogenic |
Rare genetic deafness, X-linked mixed hearing loss with perilymphatic gusher |
| RS727505248 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS727505250 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS727505256 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS727505260 |
DSP
|
Health Risk |
Likely pathogenic |
Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular cardiomyopathy |
| RS727505267 |
MYBPC3
|
Health Risk |
Conflicting classifications of pathogenicity |
Catecholaminergic polymorphic ventricular tachycardia 1, Hypertrophic cardiomyopathy |
| RS727505269 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Marfan syndrome |
| RS727505271 |
DSP
|
Health Risk |
Pathogenic/Likely pathogenic |
Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma |
| RS727505272 |
MYH14
|
Health Risk |
Conflicting classifications of pathogenicity |
Inborn genetic diseases, Inborn genetic diseases |
| RS727505273 |
GSDME
|
Health Risk |
Pathogenic |
Rare genetic deafness, Autosomal dominant nonsyndromic hearing loss 5 |
| RS727505275 |
CRYM
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal dominant nonsyndromic hearing loss 40, Autosomal dominant nonsyndromic hearing loss 40 |
| RS727505277 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS727505283 |
BAG3
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS727505284 |
TTN
|
Health Risk |
Pathogenic/Likely pathogenic |
Primary dilated cardiomyopathy, Dilated cardiomyopathy 1G |
| RS727505288 |
TTN
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS727505292 |
GLA
|
Health Risk |
Pathogenic/Likely pathogenic |
Fabry disease, Migalastat response |
| RS727505294 |
MYH7
|
Health Risk |
Likely pathogenic |
Hypertrophic cardiomyopathy 1, Dilated cardiomyopathy 1S |
| RS727505300 |
GPSM2
|
Health Risk |
Likely pathogenic |
Rare genetic deafness, Rare genetic deafness |
| RS727505308 |
RBM20
|
Health Risk |
Conflicting classifications of pathogenicity |
Dilated cardiomyopathy 1DD, Cardiovascular phenotype |
| RS727505310 |
RBM20
|
Health Risk |
Conflicting classifications of pathogenicity |
Dilated cardiomyopathy 1DD, Cardiovascular phenotype |