| RS1555327928 |
DNAAF2
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS1555328022 |
DNAAF2
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS1555328047 |
DNAAF2
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS1555328087 |
DNAAF2
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS1555328130 |
DNAAF2
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS1555328280 |
PYGL
|
Health Risk |
Pathogenic |
Glycogen storage disease, type VI |
| RS1555328499 |
L2HGDH
|
Health Risk |
Likely pathogenic |
— |
| RS1555328749 |
L2HGDH
|
Health Risk |
Pathogenic |
L-2-hydroxyglutaric aciduria, L-2-hydroxyglutaric aciduria |
| RS1555329832 |
DACT1
|
Health Risk |
Likely pathogenic |
DACT1-related neural tube defects, DACT1-related neural tube defects |
| RS1555330643 |
L2HGDH
|
Health Risk |
Likely pathogenic |
— |
| RS1555331314 |
PCCA
|
Health Risk |
Pathogenic/Likely pathogenic |
Propionic acidemia, Propionic acidemia |
| RS1555331796 |
COL4A2
|
Health Risk |
Likely pathogenic |
— |
| RS1555331969 |
OSGEP
|
Health Risk |
Pathogenic |
Galloway-Mowat syndrome 3, Nephrotic syndrome |
| RS1555332212 |
ZIC2
|
Health Risk |
Pathogenic |
Holoprosencephaly 5, Holoprosencephaly 5 |
| RS1555332225 |
ZIC2
|
Health Risk |
Pathogenic |
— |
| RS1555332361 |
ZIC2
|
Health Risk |
Pathogenic |
Holoprosencephaly 5, Holoprosencephaly 5 |
| RS1555332362 |
ZIC2
|
Health Risk |
Pathogenic |
Holoprosencephaly 5, Holoprosencephaly 5 |
| RS1555333502 |
COL4A2
|
Health Risk |
Likely pathogenic |
— |
| RS1555333626 |
COL4A2
|
Health Risk |
Likely pathogenic |
Porencephaly 2, Porencephaly 2 |
| RS1555333797 |
CFL2
|
Health Risk |
Likely pathogenic |
— |
| RS1555333942 |
MYH6
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypertrophic cardiomyopathy 14, Hypertrophic cardiomyopathy 14 |
| RS1555334047 |
MYH6
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS1555335324 |
NR1H4
|
Health Risk |
Pathogenic |
— |
| RS1555335782 |
NR1H4
|
Health Risk |
Likely pathogenic |
NR1H4-related disorder, Cholestasis |
| RS1555335933 |
MYH7
|
Health Risk |
Conflicting classifications of pathogenicity |
Primary dilated cardiomyopathy, Hypotonia |
| RS1555336129 |
MYH7
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiomyopathy, Cardiovascular phenotype |
| RS1555336467 |
MYH7
|
Health Risk |
Likely pathogenic |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS1555336492 |
MYH7
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS1555336810 |
MTHFD1
|
Health Risk |
Likely pathogenic |
Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia, Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia |
| RS1555337023 |
MYH7
|
Health Risk |
Likely pathogenic |
— |
| RS1555337102 |
MYH7
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypertrophic cardiomyopathy, Dilated cardiomyopathy 1S |
| RS1555337681 |
MTHFD1
|
Health Risk |
Likely pathogenic |
Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia, Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia |
| RS1555337701 |
MYH7
|
Health Risk |
Pathogenic/Likely pathogenic |
Cardiovascular phenotype, Hypertrophic cardiomyopathy |
| RS1555337763 |
MYH7
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiovascular phenotype, Hypertrophic cardiomyopathy |
| RS1555337794 |
MYH7
|
Health Risk |
Pathogenic |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS1555337846 |
MYH7
|
Health Risk |
Likely pathogenic |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 1 |
| RS1555337912 |
MYH7
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS1555337916 |
MYH7
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1S, Dilated cardiomyopathy 1S |
| RS1555338036 |
MYH7
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS1555338080 |
MYH7
|
Health Risk |
Pathogenic/Likely pathogenic |
Primary dilated cardiomyopathy, Hypertrophic cardiomyopathy |
| RS1555338209 |
NUBPL
|
Health Risk |
Likely pathogenic |
Mitochondrial complex I deficiency, nuclear type 21 |
| RS1555338319 |
MYH7
|
Health Risk |
Pathogenic |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 1 |
| RS1555338378 |
MYH7
|
Health Risk |
Pathogenic |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS1555338461 |
MYH7
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiomyopathy, Cardiovascular phenotype |
| RS1555338462 |
MYH7
|
Health Risk |
Likely pathogenic |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS1555338574 |
MYH7
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS1555338578 |
MYH7
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiovascular phenotype, Hypertrophic cardiomyopathy |
| RS1555338582 |
MYH7
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS1555338658 |
MYH7
|
Health Risk |
Pathogenic |
Hypertrophic cardiomyopathy, Left ventricular noncompaction |
| RS1555338758 |
MYH7
|
Health Risk |
Likely pathogenic |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS1555339539 |
GJA3
|
Health Risk |
Conflicting classifications of pathogenicity |
Cataract 14 multiple types, Cataract 14 multiple types |
| RS1555340265 |
MAX
|
Health Risk |
Likely pathogenic |
Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome |
| RS1555340550 |
MAX
|
Health Risk |
Pathogenic |
Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome |
| RS1555341463 |
PCK2
|
Health Risk |
Likely pathogenic |
— |
| RS1555341473 |
PCK2
|
Health Risk |
Likely pathogenic |
— |
| RS1555341483 |
PCK2
|
Health Risk |
Likely pathogenic |
— |
| RS1555341783 |
GJB2
|
Health Risk |
Likely pathogenic |
Autosomal recessive nonsyndromic hearing loss 1A, Autosomal recessive nonsyndromic hearing loss 1A |
| RS1555341794 |
GJB2
|
Health Risk |
Likely pathogenic |
Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 1A |
| RS1555341840 |
GJB2
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive nonsyndromic hearing loss 1A, Autosomal recessive nonsyndromic hearing loss 1A |
| RS1555341843 |
GJB2
|
Health Risk |
Likely pathogenic |
— |
| RS1555341907 |
GJB2
|
Health Risk |
Likely pathogenic |
Autosomal recessive nonsyndromic hearing loss 1A, Autosomal recessive nonsyndromic hearing loss 1A |
| RS1555341926 |
GJB2
|
Health Risk |
Likely pathogenic |
Autosomal recessive nonsyndromic hearing loss 1A, Autosomal recessive nonsyndromic hearing loss 1A |
| RS1555341931 |
GJB2
|
Health Risk |
Pathogenic |
Autosomal recessive nonsyndromic hearing loss 1A, Autosomal recessive nonsyndromic hearing loss 1A |
| RS1555341945 |
GJB2
|
Health Risk |
Pathogenic |
Autosomal dominant keratitis-ichthyosis-hearing loss syndrome, Porokeratotic adnexal ostial nevus |
| RS1555341949 |
GJB2
|
Health Risk |
Likely pathogenic |
Autosomal recessive nonsyndromic hearing loss 1A, Autosomal recessive nonsyndromic hearing loss 1A |
| RS1555341954 |
GJB2
|
Health Risk |
Pathogenic |
Autosomal recessive nonsyndromic hearing loss 1A, Autosomal recessive nonsyndromic hearing loss 1A |
| RS1555341960 |
GJB2
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive nonsyndromic hearing loss 1A, Nonsyndromic genetic hearing loss |
| RS1555341986 |
GJB2
|
Health Risk |
Pathogenic |
Autosomal recessive nonsyndromic hearing loss 1A, Autosomal recessive nonsyndromic hearing loss 1A |
| RS1555341993 |
GJB2
|
Health Risk |
Likely pathogenic |
Autosomal recessive nonsyndromic hearing loss 1A, Autosomal recessive nonsyndromic hearing loss 1A |
| RS1555342003 |
GJB2
|
Health Risk |
Likely pathogenic |
— |
| RS1555342007 |
GJB2
|
Health Risk |
Likely pathogenic |
Autosomal recessive nonsyndromic hearing loss 1A, Autosomal recessive nonsyndromic hearing loss 1A |
| RS1555342014 |
GJB2
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive nonsyndromic hearing loss 1A, Autosomal recessive nonsyndromic hearing loss 1A |
| RS1555342141 |
ESRRB
|
Health Risk |
Pathogenic |
Autosomal recessive nonsyndromic hearing loss 35, Autosomal recessive nonsyndromic hearing loss 35 |
| RS1555342581 |
PCCA
|
Health Risk |
Conflicting classifications of pathogenicity |
Propionic acidemia, Propionic acidemia |
| RS1555342593 |
PCCA
|
Health Risk |
Pathogenic/Likely pathogenic |
Propionic acidemia, Propionic acidemia |
| RS1555342802 |
CARS2
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Combined oxidative phosphorylation defect type 27 |
| RS1555342918 |
NFKBIA
|
Health Risk |
Conflicting classifications of pathogenicity |
Ectodermal dysplasia and immunodeficiency 2, Ectodermal dysplasia and immunodeficiency 2 |
| RS1555343169 |
MAX
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1555343284 |
ACTN1
|
Health Risk |
Conflicting classifications of pathogenicity |
Platelet-type bleeding disorder 15, Platelet-type bleeding disorder 15 |
| RS1555344661 |
TTLL5
|
Health Risk |
Pathogenic/Likely pathogenic |
— |
| RS1555344723 |
ZFHX2
|
Health Risk |
Pathogenic |
Indifference to pain, congenital |
| RS1555344820 |
ESRRB
|
Health Risk |
Likely pathogenic |
Rare genetic deafness, Rare genetic deafness |
| RS1555345387 |
TTLL5
|
Health Risk |
Pathogenic |
Cone-rod dystrophy 19, Cone-rod dystrophy 19 |
| RS1555345616 |
NPC2
|
Health Risk |
Pathogenic |
Niemann-Pick disease, type C2 |
| RS1555345873 |
NPC2
|
Health Risk |
Likely pathogenic |
Niemann-Pick disease, type C2 |
| RS1555346368 |
NPC2
|
Health Risk |
Pathogenic |
Niemann-Pick disease, type C2 |
| RS1555346369 |
NPC2
|
Health Risk |
Likely pathogenic |
Niemann-Pick disease, type C2 |
| RS1555349146 |
NKX2-1
|
Health Risk |
Pathogenic |
Benign hereditary chorea, Benign hereditary chorea |
| RS1555349149 |
NKX2-1;SFTA3
|
Health Risk |
Likely pathogenic |
— |
| RS1555349160 |
NKX2-1
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS1555349184 |
NKX2-1
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS1555349209 |
NKX2-1
|
Health Risk |
Pathogenic/Likely pathogenic |
Brain-lung-thyroid syndrome, NKX2-1-related disorder |
| RS1555349214 |
NKX2-1
|
Health Risk |
Pathogenic/Likely pathogenic |
Inborn genetic diseases, Neurodevelopmental disorder |
| RS1555349218 |
NKX2-1
|
Health Risk |
Conflicting classifications of pathogenicity |
Brain-lung-thyroid syndrome, Brain-lung-thyroid syndrome |
| RS1555349221 |
NKX2-1;SFTA3
|
Health Risk |
Likely pathogenic |
Inborn genetic diseases, Brain-lung-thyroid syndrome |
| RS1555349228 |
NKX2-1
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS1555349390 |
NKX2-1
|
Health Risk |
Pathogenic |
— |
| RS1555350156 |
OTX2
|
Health Risk |
Pathogenic |
Syndromic microphthalmia type 5, Syndromic microphthalmia type 5 |
| RS1555350163 |
OTX2
|
Health Risk |
Likely pathogenic |
— |
| RS1555350223 |
OTX2
|
Health Risk |
Pathogenic |
Syndromic microphthalmia type 5, Anophthalmia-microphthalmia syndrome |