| RS121909353 |
GDF6
|
Health Risk |
Conflicting classifications of pathogenicity |
Klippel-Feil syndrome 1, autosomal dominant |
| RS121909357 |
GHR
|
Health Risk |
Pathogenic |
Laron-type isolated somatotropin defect, Laron-type isolated somatotropin defect |
| RS121909358 |
GHR
|
Health Risk |
Pathogenic |
Laron-type isolated somatotropin defect, Hypercholesterolemia |
| RS121909359 |
GHR
|
Health Risk |
Pathogenic/Likely pathogenic |
Laron-type isolated somatotropin defect, Growth hormone insensitivity syndrome |
| RS121909360 |
GHR
|
Health Risk |
Pathogenic |
Laron-type isolated somatotropin defect, Hypercholesterolemia |
| RS121909361 |
GHR
|
Health Risk |
Conflicting classifications of pathogenicity |
Short stature due to partial GHR deficiency, Growth hormone insensitivity syndrome |
| RS121909362 |
GHR
|
Health Risk |
Conflicting classifications of pathogenicity |
Short stature due to partial GHR deficiency, Laron-type isolated somatotropin defect |
| RS121909363 |
GHR
|
Health Risk |
Pathogenic |
Laron-type isolated somatotropin defect, Hypercholesterolemia |
| RS121909364 |
GHR
|
Health Risk |
Pathogenic |
Laron syndrome with undetectable serum GH-binding protein, Laron syndrome with undetectable serum GH-binding protein |
| RS121909365 |
GHR
|
Health Risk |
Likely pathogenic |
Laron syndrome with undetectable serum GH-binding protein, Growth hormone insensitivity syndrome |
| RS121909366 |
GHR
|
Health Risk |
Conflicting classifications of pathogenicity |
Laron-type isolated somatotropin defect, Monogenic short statue |
| RS121909367 |
GHR
|
Health Risk |
Conflicting classifications of pathogenicity |
Laron-type isolated somatotropin defect, Laron-type isolated somatotropin defect |
| RS121909368 |
GHR
|
Health Risk |
Pathogenic |
Laron-type isolated somatotropin defect, Laron-type isolated somatotropin defect |
| RS121909369 |
GHR
|
Health Risk |
Pathogenic |
Laron-type isolated somatotropin defect, Laron-type isolated somatotropin defect |
| RS121909370 |
GHR
|
Health Risk |
Pathogenic |
Laron-type isolated somatotropin defect, Growth hormone insensitivity syndrome |
| RS121909371 |
GHR
|
Health Risk |
Pathogenic |
Laron-type isolated somatotropin defect, Laron-type isolated somatotropin defect |
| RS121909372 |
GHR
|
Health Risk |
Pathogenic |
Laron-type isolated somatotropin defect, Laron-type isolated somatotropin defect |
| RS121909373 |
GHR
|
Health Risk |
Conflicting classifications of pathogenicity |
Laron-type isolated somatotropin defect, Laron-type isolated somatotropin defect |
| RS121909374 |
MYBPC3
|
Health Risk |
Pathogenic |
Hypertrophic cardiomyopathy 4, Primary familial hypertrophic cardiomyopathy |
| RS121909375 |
MYBPC3
|
Health Risk |
Pathogenic |
Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy 4 |
| RS121909377 |
MYBPC3
|
Health Risk |
Pathogenic/Likely pathogenic |
Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy |
| RS121909378 |
MYBPC3
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy |
| RS121909379 |
SLC12A3
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial hypokalemia-hypomagnesemia, Inborn genetic diseases |
| RS121909380 |
SLC12A3
|
Health Risk |
Likely pathogenic |
Familial hypokalemia-hypomagnesemia, Bartter syndrome |
| RS121909382 |
SLC12A3
|
Health Risk |
Likely pathogenic |
Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia |
| RS121909383 |
SLC12A3
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial hypokalemia-hypomagnesemia, Renal tubular acidosis |
| RS121909384 |
SLC12A3
|
Health Risk |
Pathogenic |
Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia |
| RS121909385 |
SLC12A3
|
Health Risk |
Pathogenic |
Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia |
| RS121909386 |
SLC16A12
|
Health Risk |
Pathogenic |
Juvenile cataract-microcornea-renal glucosuria syndrome, Juvenile cataract-microcornea-renal glucosuria syndrome |
| RS121909387 |
SLC4A11
|
Health Risk |
Pathogenic |
Congenital hereditary endothelial dystrophy of cornea, Congenital hereditary endothelial dystrophy of cornea |
| RS121909388 |
SLC4A11
|
Health Risk |
Pathogenic |
Congenital hereditary endothelial dystrophy of cornea, Corneal dystrophy-perceptive deafness syndrome |
| RS121909389 |
SLC4A11
|
Health Risk |
Pathogenic |
Congenital hereditary endothelial dystrophy of cornea, Corneal dystrophy |
| RS121909390 |
SLC4A11
|
Health Risk |
Pathogenic |
Congenital hereditary endothelial dystrophy of cornea, Corneal dystrophy-perceptive deafness syndrome |
| RS121909391 |
SLC4A11
|
Health Risk |
Pathogenic |
Congenital hereditary endothelial dystrophy of cornea, Congenital hereditary endothelial dystrophy of cornea |
| RS121909392 |
SLC4A11
|
Health Risk |
Pathogenic/Likely pathogenic |
Congenital hereditary endothelial dystrophy of cornea, Corneal dystrophy |
| RS121909393 |
SLC4A11
|
Health Risk |
Pathogenic |
Corneal dystrophy-perceptive deafness syndrome, Corneal dystrophy-perceptive deafness syndrome |
| RS121909394 |
SLC4A11
|
Health Risk |
Pathogenic/Likely pathogenic |
Corneal dystrophy-perceptive deafness syndrome, Corneal dystrophy |
| RS121909395 |
SLC4A11
|
Health Risk |
Pathogenic |
Corneal dystrophy-perceptive deafness syndrome, Corneal dystrophy-perceptive deafness syndrome |
| RS121909396 |
SLC4A11
|
Health Risk |
Likely pathogenic |
Corneal dystrophy-perceptive deafness syndrome, Congenital hereditary endothelial dystrophy of cornea |
| RS121909397 |
LMF1
|
Health Risk |
Pathogenic |
Lipase deficiency, combined |
| RS121909398 |
CERKL
|
Health Risk |
Pathogenic/Likely pathogenic |
Retinitis pigmentosa 26, Retinitis pigmentosa |
| RS121909447 |
GLYCTK
|
Health Risk |
Pathogenic |
D-Glyceric aciduria, D-Glyceric aciduria |
| RS121909448 |
GLYCTK
|
Health Risk |
Conflicting classifications of pathogenicity |
D-Glyceric aciduria, D-Glyceric aciduria |
| RS121909449 |
GLYCTK
|
Health Risk |
Pathogenic |
D-Glyceric aciduria, D-Glyceric aciduria |
| RS121909450 |
MLH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS121909484 |
SLC33A1
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 42, Hereditary spastic paraplegia 42 |
| RS121909485 |
TSFM
|
Health Risk |
Pathogenic |
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3, Inborn genetic diseases |
| RS121909486 |
LMX1B
|
Health Risk |
Pathogenic/Likely pathogenic |
Nail-patella syndrome, Nail-patella-like renal disease |
| RS121909487 |
LMX1B
|
Health Risk |
Pathogenic |
Nail-patella syndrome, Nail-patella syndrome |
| RS121909488 |
LMX1B
|
Health Risk |
Conflicting classifications of pathogenicity |
Nail-patella syndrome, Nail-patella syndrome |
| RS121909489 |
LMX1B
|
Health Risk |
Pathogenic |
Nail-patella syndrome, Nail-patella-like renal disease |
| RS121909490 |
LMX1B
|
Health Risk |
Pathogenic/Likely pathogenic |
Nail-patella syndrome, Inborn genetic diseases |
| RS121909491 |
LMX1B
|
Health Risk |
Likely pathogenic |
Nail-patella syndrome, LMX1B-related disorder |
| RS121909492 |
LMX1B
|
Health Risk |
Likely pathogenic |
Nail-patella syndrome, Nail-patella syndrome |
| RS121909493 |
MAMLD1
|
Health Risk |
Pathogenic |
Hypospadias 2, X-linked |
| RS121909494 |
MAMLD1
|
Health Risk |
Pathogenic |
Hypospadias 2, X-linked |
| RS121909495 |
MAMLD1
|
Health Risk |
Pathogenic |
Hypospadias 2, X-linked |
| RS121909496 |
SERPINA7
|
Health Risk |
association |
Thyroxine-binding globulin quantitative trait locus, Thyroxine-binding globulin quantitative trait locus |
| RS121909497 |
MMP13
|
Health Risk |
Pathogenic |
Spondyloepimetaphyseal dysplasia, Missouri type |
| RS121909498 |
MMP13
|
Health Risk |
Pathogenic |
Metaphyseal anadysplasia 1, autosomal dominant |
| RS121909499 |
MMP13
|
Health Risk |
Pathogenic |
Metaphyseal anadysplasia 1, autosomal dominant |
| RS121909500 |
MMP13
|
Health Risk |
Pathogenic |
Metaphyseal chondrodysplasia, Spahr type |
| RS121909502 |
CHRND
|
Health Risk |
Likely pathogenic |
Congenital myasthenic syndrome 3A, Lethal multiple pterygium syndrome |
| RS121909503 |
CHRND
|
Health Risk |
Pathogenic |
Congenital myasthenic syndrome 3B, Congenital myasthenic syndrome 3B |
| RS121909504 |
CHRND
|
Health Risk |
Pathogenic |
Congenital myasthenic syndrome 3B, Congenital myasthenic syndrome 3B |
| RS121909505 |
CHRND
|
Health Risk |
Pathogenic |
Lethal multiple pterygium syndrome, Congenital myasthenic syndrome 3B |
| RS121909506 |
CHRND
|
Health Risk |
Pathogenic |
Lethal multiple pterygium syndrome, Lethal multiple pterygium syndrome |
| RS121909508 |
CHRND
|
Health Risk |
Pathogenic |
Congenital myasthenic syndrome 3B, Congenital myasthenic syndrome 3B |
| RS121909510 |
CHRNE
|
Health Risk |
Pathogenic/Likely pathogenic |
Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A |
| RS121909511 |
CHRNE
|
Health Risk |
Pathogenic/Likely pathogenic |
Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A |
| RS121909512 |
CHRNE
|
Health Risk |
Pathogenic |
Congenital myasthenic syndrome 4B, Congenital myasthenic syndrome 4A |
| RS121909513 |
CHRNE
|
Health Risk |
Pathogenic |
Congenital myasthenic syndrome 4C, Congenital myasthenic syndrome 4A |
| RS121909514 |
CHRNE
|
Health Risk |
Pathogenic/Likely pathogenic |
Congenital myasthenic syndrome 4C, Congenital myasthenic syndrome 4A |
| RS121909515 |
CHRNE
|
Health Risk |
Pathogenic/Likely pathogenic |
Congenital myasthenic syndrome 4C, Congenital myasthenic syndrome 4A |
| RS121909516 |
CHRNE
|
Health Risk |
Conflicting classifications of pathogenicity |
Congenital myasthenic syndrome 4B, Congenital myasthenic syndrome 4A |
| RS121909517 |
CHRNE
|
Health Risk |
Pathogenic/Likely pathogenic |
Congenital myasthenic syndrome 4B, Congenital myasthenic syndrome 4A |
| RS121909518 |
FLNC
|
Health Risk |
Pathogenic |
Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26 |
| RS121909519 |
ACTA1
|
Health Risk |
Pathogenic/Likely pathogenic |
Actin accumulation myopathy, ACTA1-related myopathies |
| RS121909520 |
ACTA1
|
Health Risk |
Pathogenic |
Actin accumulation myopathy, Actin accumulation myopathy |
| RS121909521 |
ACTA1
|
Health Risk |
Pathogenic |
Congenital myopathy 2b, severe infantile |
| RS121909522 |
ACTA1
|
Health Risk |
Pathogenic |
Actin accumulation myopathy, Congenital myopathy 2c |
| RS121909523 |
ACTA1
|
Health Risk |
Pathogenic/Likely pathogenic |
Actin accumulation myopathy, ACTA1-related myopathies |
| RS121909524 |
ACTA1
|
Health Risk |
Likely pathogenic |
Congenital myopathy 2c, severe infantile |
| RS121909525 |
ACTA1
|
Health Risk |
Pathogenic |
Actin accumulation myopathy, Neuromuscular disease |
| RS121909526 |
ACTA1
|
Health Risk |
Likely pathogenic |
Actin accumulation myopathy, Alpha-actinopathy |
| RS121909527 |
ACTA1
|
Health Risk |
Pathogenic |
Actin accumulation myopathy, Actin accumulation myopathy |
| RS121909528 |
ACTA1
|
Health Risk |
Likely pathogenic |
Alpha-actinopathy, Actin accumulation myopathy |
| RS121909529 |
ACTA1
|
Health Risk |
Pathogenic |
Congenital myopathy with fiber type disproportion, Actin accumulation myopathy |
| RS121909530 |
ACTA1
|
Health Risk |
Likely pathogenic |
Congenital myopathy with fiber type disproportion, Actin accumulation myopathy |
| RS121909531 |
ACTA1
|
Health Risk |
Pathogenic |
Congenital myopathy with fiber type disproportion, Actin accumulation myopathy |
| RS121909533 |
ALDOA
|
Health Risk |
Pathogenic |
HNSHA due to aldolase A deficiency, HNSHA due to aldolase A deficiency |
| RS121909534 |
ALDOA
|
Health Risk |
Pathogenic |
HNSHA due to aldolase A deficiency, HNSHA due to aldolase A deficiency |
| RS121909535 |
ANG
|
Health Risk |
Pathogenic |
Amyotrophic lateral sclerosis type 9, Amyotrophic lateral sclerosis type 9 |
| RS121909536 |
ANG
|
Health Risk |
Conflicting classifications of pathogenicity |
Amyotrophic lateral sclerosis type 9, ANG-related disorder |
| RS121909537 |
ANG
|
Health Risk |
Pathogenic |
Amyotrophic lateral sclerosis type 9, Amyotrophic lateral sclerosis type 9 |
| RS121909538 |
ANG
|
Health Risk |
Pathogenic |
Amyotrophic lateral sclerosis type 9, Amyotrophic lateral sclerosis type 9 |
| RS121909539 |
ANG
|
Health Risk |
Pathogenic |
Amyotrophic lateral sclerosis type 9, Amyotrophic lateral sclerosis type 9 |
| RS121909540 |
ANG
|
Health Risk |
Pathogenic |
Amyotrophic lateral sclerosis type 9, Amyotrophic lateral sclerosis type 9 |
| RS121909541 |
ANG
|
Health Risk |
Conflicting classifications of pathogenicity |
Amyotrophic lateral sclerosis type 9, ANG-related disorder |
| RS121909542 |
ANG
|
Health Risk |
Likely pathogenic |
Amyotrophic lateral sclerosis type 9, Amyotrophic lateral sclerosis type 9 |