| RS797045340 |
ATP7A
|
Health Risk |
Pathogenic |
Menkes kinky-hair syndrome, Cutis laxa |
| RS797045341 |
ATP7A
|
Health Risk |
Pathogenic |
Menkes kinky-hair syndrome, Menkes kinky-hair syndrome |
| RS797045342 |
ATP7A
|
Health Risk |
Pathogenic |
Menkes kinky-hair syndrome, Menkes kinky-hair syndrome |
| RS797045343 |
ATP7A
|
Health Risk |
Pathogenic |
Menkes kinky-hair syndrome, Menkes kinky-hair syndrome |
| RS797045344 |
ATP7A
|
Health Risk |
Pathogenic |
Menkes kinky-hair syndrome, Menkes kinky-hair syndrome |
| RS797045346 |
ATP7A
|
Health Risk |
Pathogenic |
Menkes kinky-hair syndrome, Menkes kinky-hair syndrome |
| RS797045347 |
ATP7A
|
Health Risk |
Likely pathogenic |
Menkes kinky-hair syndrome, Cutis laxa |
| RS797045348 |
ATP7A
|
Health Risk |
Likely pathogenic |
Menkes kinky-hair syndrome, Menkes kinky-hair syndrome |
| RS797045349 |
ATP7A
|
Health Risk |
Pathogenic |
Menkes kinky-hair syndrome, Menkes kinky-hair syndrome |
| RS797045350 |
ATP7A
|
Health Risk |
Conflicting classifications of pathogenicity |
Menkes kinky-hair syndrome, Menkes kinky-hair syndrome |
| RS797045351 |
ATP7A
|
Health Risk |
Pathogenic |
Menkes kinky-hair syndrome, Cutis laxa |
| RS797045352 |
ATP7A
|
Health Risk |
Pathogenic |
Menkes kinky-hair syndrome, Menkes kinky-hair syndrome |
| RS797045353 |
ATP7A
|
Health Risk |
Pathogenic |
Menkes kinky-hair syndrome, Menkes kinky-hair syndrome |
| RS797045354 |
ATP7A
|
Health Risk |
Pathogenic |
Menkes kinky-hair syndrome, Menkes kinky-hair syndrome |
| RS797045355 |
ATP7A
|
Health Risk |
Pathogenic |
Menkes kinky-hair syndrome, Menkes kinky-hair syndrome |
| RS797045356 |
ATP7A
|
Health Risk |
Pathogenic |
Menkes kinky-hair syndrome, Menkes kinky-hair syndrome |
| RS797045357 |
ATP7A
|
Health Risk |
Likely pathogenic |
Menkes kinky-hair syndrome, Cutis laxa |
| RS797045358 |
ATP7A
|
Health Risk |
Pathogenic |
Menkes kinky-hair syndrome, Menkes kinky-hair syndrome |
| RS797045359 |
ATP7A
|
Health Risk |
Pathogenic |
Menkes kinky-hair syndrome, Cutis laxa |
| RS797045360 |
ATP7A
|
Health Risk |
Pathogenic |
Menkes kinky-hair syndrome, Menkes kinky-hair syndrome |
| RS797045361 |
ATP7A
|
Health Risk |
Pathogenic |
Menkes kinky-hair syndrome, Menkes kinky-hair syndrome |
| RS797045362 |
ATP7A
|
Health Risk |
Likely pathogenic |
Menkes kinky-hair syndrome, Menkes kinky-hair syndrome |
| RS797045363 |
ATP7A
|
Health Risk |
Likely pathogenic |
Menkes kinky-hair syndrome, Menkes kinky-hair syndrome |
| RS797045364 |
ATP7A
|
Health Risk |
Pathogenic/Likely pathogenic |
Menkes kinky-hair syndrome, Cutis laxa |
| RS797045365 |
ATP7A
|
Health Risk |
Likely pathogenic |
Menkes kinky-hair syndrome, Cutis laxa |
| RS797045366 |
ATP7A
|
Health Risk |
Pathogenic |
Menkes kinky-hair syndrome, Menkes kinky-hair syndrome |
| RS797045367 |
ATP7A
|
Health Risk |
Pathogenic |
Menkes kinky-hair syndrome, Menkes kinky-hair syndrome |
| RS797045368 |
ATP7A
|
Health Risk |
Pathogenic |
Menkes kinky-hair syndrome, Menkes kinky-hair syndrome |
| RS797045369 |
ATP7A
|
Health Risk |
Pathogenic |
Menkes kinky-hair syndrome, Menkes kinky-hair syndrome |
| RS797045370 |
ATP7A
|
Health Risk |
Pathogenic |
Menkes kinky-hair syndrome, Menkes kinky-hair syndrome |
| RS797045372 |
ATP7A
|
Health Risk |
Pathogenic |
Menkes kinky-hair syndrome, Menkes kinky-hair syndrome |
| RS797045373 |
ATP7A
|
Health Risk |
Pathogenic |
Menkes kinky-hair syndrome, Menkes kinky-hair syndrome |
| RS797045374 |
ATP7A
|
Health Risk |
Pathogenic |
Menkes kinky-hair syndrome, Cutis laxa |
| RS797045375 |
ATP7A
|
Health Risk |
Pathogenic |
Menkes kinky-hair syndrome, Menkes kinky-hair syndrome |
| RS797045376 |
ATP7A
|
Health Risk |
Likely pathogenic |
Menkes kinky-hair syndrome, Menkes kinky-hair syndrome |
| RS797045377 |
ATP7A
|
Health Risk |
Pathogenic |
Menkes kinky-hair syndrome, Menkes kinky-hair syndrome |
| RS797045378 |
ATP7A
|
Health Risk |
Pathogenic |
Menkes kinky-hair syndrome, Menkes kinky-hair syndrome |
| RS797045379 |
ATP7A
|
Health Risk |
Pathogenic |
Menkes kinky-hair syndrome, Menkes kinky-hair syndrome |
| RS797045380 |
ATP7A
|
Health Risk |
Pathogenic |
Menkes kinky-hair syndrome, Menkes kinky-hair syndrome |
| RS797045382 |
ATP7A
|
Health Risk |
Pathogenic |
Menkes kinky-hair syndrome, Menkes kinky-hair syndrome |
| RS797045383 |
ATP7A
|
Health Risk |
Pathogenic |
Menkes kinky-hair syndrome, Menkes kinky-hair syndrome |
| RS797045384 |
ATP7A
|
Health Risk |
Pathogenic |
Menkes kinky-hair syndrome, Menkes kinky-hair syndrome |
| RS797045385 |
ATP7A
|
Health Risk |
Likely pathogenic |
Menkes kinky-hair syndrome, Menkes kinky-hair syndrome |
| RS797045386 |
ATP7A
|
Health Risk |
Pathogenic |
Menkes kinky-hair syndrome, Menkes kinky-hair syndrome |
| RS797045387 |
ATP7A
|
Health Risk |
Likely pathogenic |
Menkes kinky-hair syndrome, Menkes kinky-hair syndrome |
| RS797045388 |
ATP7A
|
Health Risk |
Pathogenic |
Menkes kinky-hair syndrome, Menkes kinky-hair syndrome |
| RS797045389 |
ATP7A
|
Health Risk |
Pathogenic |
Menkes kinky-hair syndrome, Menkes kinky-hair syndrome |
| RS797045390 |
ATP7A
|
Health Risk |
Pathogenic |
Menkes kinky-hair syndrome, Menkes kinky-hair syndrome |
| RS797045391 |
ATP7A
|
Health Risk |
Pathogenic/Likely pathogenic |
Menkes kinky-hair syndrome, Cutis laxa |
| RS797045392 |
ATP7A
|
Health Risk |
Pathogenic |
Menkes kinky-hair syndrome, Menkes kinky-hair syndrome |
| RS797045393 |
ATP7A
|
Health Risk |
Pathogenic |
Menkes kinky-hair syndrome, Menkes kinky-hair syndrome |
| RS797045394 |
ATP7A
|
Health Risk |
Likely pathogenic |
Menkes kinky-hair syndrome, Menkes kinky-hair syndrome |
| RS797045395 |
ATP7A
|
Health Risk |
Pathogenic |
Menkes kinky-hair syndrome, Menkes kinky-hair syndrome |
| RS797045396 |
ATP7A
|
Health Risk |
Likely pathogenic |
Menkes kinky-hair syndrome, Menkes kinky-hair syndrome |
| RS797045397 |
ATP7A
|
Health Risk |
Likely pathogenic |
Menkes kinky-hair syndrome, Cutis laxa |
| RS797045398 |
ATP7A
|
Health Risk |
Pathogenic |
Menkes kinky-hair syndrome, Menkes kinky-hair syndrome |
| RS797045399 |
ATP7A
|
Health Risk |
Pathogenic |
Menkes kinky-hair syndrome, Menkes kinky-hair syndrome |
| RS797045400 |
ATP7A
|
Health Risk |
Pathogenic |
Menkes kinky-hair syndrome, Menkes kinky-hair syndrome |
| RS797045402 |
ATP7B
|
Health Risk |
Pathogenic/Likely pathogenic |
Wilson disease, Wilson disease |
| RS797045403 |
ATR
|
Health Risk |
Pathogenic |
Seckel syndrome 1, Seckel syndrome 1 |
| RS797045404 |
ATR
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial pancreatic carcinoma, Familial cancer of breast |
| RS797045405 |
ATRX
|
Health Risk |
Conflicting classifications of pathogenicity |
Alpha thalassemia-X-linked intellectual disability syndrome, Inborn genetic diseases |
| RS797045406 |
ATRX
|
Health Risk |
Conflicting classifications of pathogenicity |
Alpha thalassemia-X-linked intellectual disability syndrome, Alpha-thalassemia/intellectual disability syndrome |
| RS797045411 |
BCKDHB
|
Health Risk |
Likely pathogenic |
Maple syrup urine disease type 1B, Maple syrup urine disease type 1B |
| RS797045412 |
BICD2
|
Health Risk |
Likely pathogenic |
Spinal muscular atrophy, lower extremity-predominant |
| RS797045414 |
BRCA2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome |
| RS797045419 |
BRWD3
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS797045423 |
C19orf12
|
Health Risk |
Pathogenic |
Neurodegeneration with brain iron accumulation 4, Neurodegeneration with brain iron accumulation 4 |
| RS797045424 |
CACNA1A
|
Health Risk |
Conflicting classifications of pathogenicity |
Episodic ataxia type 2, Developmental and epileptic encephalopathy |
| RS797045427 |
CAPN3
|
Health Risk |
Pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy |
| RS797045430 |
KNL1
|
Health Risk |
Likely pathogenic |
Microcephaly 4, primary |
| RS797045431 |
CASK
|
Health Risk |
Pathogenic |
Syndromic X-linked intellectual disability Najm type, Syndromic X-linked intellectual disability Najm type |
| RS797045433 |
CASK
|
Health Risk |
Pathogenic |
Syndromic X-linked intellectual disability Najm type, Syndromic X-linked intellectual disability Najm type |
| RS797045437 |
CC2D2A
|
Health Risk |
Pathogenic/Likely pathogenic |
Joubert syndrome 9, Joubert syndrome |
| RS797045438 |
CC2D2A
|
Health Risk |
Conflicting classifications of pathogenicity |
Joubert syndrome, Meckel-Gruber syndrome |
| RS797045441 |
CDK5RAP2
|
Health Risk |
Pathogenic |
Microcephaly 3, primary |
| RS797045445 |
CDKN1C
|
Health Risk |
Pathogenic |
Beckwith-Wiedemann syndrome, CDKN1C-related disorder |
| RS797045447 |
CPAP
|
Health Risk |
Pathogenic |
Seckel syndrome 4, Seckel syndrome 4 |
| RS797045448 |
CPAP
|
Health Risk |
Pathogenic |
Seckel syndrome 4, Seckel syndrome 4 |
| RS797045449 |
CPAP
|
Health Risk |
Pathogenic |
Seckel syndrome 4, Seckel syndrome 4 |
| RS797045450 |
CPAP
|
Health Risk |
Pathogenic/Likely pathogenic |
Seckel syndrome 4, Microcephaly 6 |
| RS797045452 |
CPAP
|
Health Risk |
Pathogenic |
Seckel syndrome 4, Seckel syndrome 4 |
| RS797045454 |
CPAP
|
Health Risk |
Pathogenic/Likely pathogenic |
Seckel syndrome 4, Autosomal recessive primary microcephaly |
| RS797045459 |
CEP63
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS797045461 |
CHD7
|
Health Risk |
Pathogenic |
CHARGE syndrome, CHARGE syndrome |
| RS797045463 |
CHD7
|
Health Risk |
Pathogenic |
CHARGE syndrome, CHARGE syndrome |
| RS797045465 |
CHD7
|
Health Risk |
Pathogenic |
CHARGE syndrome, CHARGE syndrome |
| RS797045467 |
CHD7
|
Health Risk |
Pathogenic |
CHARGE syndrome, Inborn genetic diseases |
| RS797045468 |
CHD7
|
Health Risk |
Pathogenic |
CHARGE syndrome, CHARGE syndrome |
| RS797045469 |
CHD7
|
Health Risk |
Pathogenic |
CHARGE syndrome, CHARGE syndrome |
| RS797045470 |
CHD7
|
Health Risk |
Pathogenic |
CHARGE syndrome, CHARGE syndrome |
| RS797045471 |
CHD7
|
Health Risk |
Pathogenic |
CHARGE syndrome, CHARGE syndrome |
| RS797045472 |
CHD7
|
Health Risk |
Pathogenic |
CHARGE syndrome, CHARGE syndrome |
| RS797045473 |
CHD7
|
Health Risk |
Pathogenic |
CHARGE syndrome, CHARGE syndrome |
| RS797045474 |
CHRND
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS797045477 |
COL6A1
|
Health Risk |
Pathogenic |
Myopathy, Bethlem myopathy 1A |
| RS797045478 |
COL6A2
|
Health Risk |
Pathogenic |
Myopathy, Bethlem myopathy 1A |
| RS797045479 |
COL6A3
|
Health Risk |
Pathogenic/Likely pathogenic |
Myopathy, Limb-girdle muscular dystrophy |
| RS797045483 |
CREBBP
|
Health Risk |
Pathogenic |
Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations |
| RS797045484 |
CREBBP
|
Health Risk |
Pathogenic |
Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations |