| RS587783565 |
DCX
|
Health Risk |
Likely pathogenic |
Ectopic tissue, Ectopic tissue |
| RS587783566 |
DCX
|
Health Risk |
Pathogenic |
Ectopic tissue, Ectopic tissue |
| RS587783567 |
DCX
|
Health Risk |
Pathogenic |
Ectopic tissue, Ectopic tissue |
| RS587783568 |
DCX
|
Health Risk |
Conflicting classifications of pathogenicity |
Ectopic tissue, Lissencephaly type 1 due to doublecortin gene mutation |
| RS587783569 |
DCX
|
Health Risk |
Likely pathogenic |
Ectopic tissue, Ectopic tissue |
| RS587783570 |
DCX
|
Health Risk |
Pathogenic |
Ectopic tissue, Ectopic tissue |
| RS587783571 |
DCX
|
Health Risk |
Pathogenic |
Ectopic tissue, Ectopic tissue |
| RS587783572 |
DCX
|
Health Risk |
Likely pathogenic |
Ectopic tissue, Ectopic tissue |
| RS587783573 |
DCX
|
Health Risk |
Pathogenic |
Ectopic tissue, Ectopic tissue |
| RS587783574 |
DCX
|
Health Risk |
Pathogenic |
Ectopic tissue, Ectopic tissue |
| RS587783575 |
DCX
|
Health Risk |
Pathogenic |
Ectopic tissue, Ectopic tissue |
| RS587783576 |
DCX
|
Health Risk |
Pathogenic |
Ectopic tissue, Ectopic tissue |
| RS587783577 |
DCX
|
Health Risk |
Pathogenic |
Ectopic tissue, Lissencephaly type 1 due to doublecortin gene mutation |
| RS587783578 |
DCX
|
Health Risk |
Pathogenic |
Ectopic tissue, Ectopic tissue |
| RS587783579 |
DCX
|
Health Risk |
Pathogenic |
Ectopic tissue, Abnormal cortical gyration |
| RS587783580 |
DCX
|
Health Risk |
Pathogenic |
Ectopic tissue, Ectopic tissue |
| RS587783581 |
DCX
|
Health Risk |
Likely pathogenic |
Ectopic tissue, Ectopic tissue |
| RS587783582 |
DCX
|
Health Risk |
Likely pathogenic |
Ectopic tissue, Ectopic tissue |
| RS587783583 |
DCX
|
Health Risk |
Pathogenic |
Ectopic tissue, Ectopic tissue |
| RS587783584 |
DCX
|
Health Risk |
Likely pathogenic |
Ectopic tissue, Ectopic tissue |
| RS587783585 |
DCX
|
Health Risk |
Pathogenic |
Ectopic tissue, Ectopic tissue |
| RS587783586 |
DCX
|
Health Risk |
Pathogenic |
Ectopic tissue, Ectopic tissue |
| RS587783587 |
DCX
|
Health Risk |
Likely pathogenic |
Ectopic tissue, Ectopic tissue |
| RS587783588 |
DCX
|
Health Risk |
Pathogenic |
Ectopic tissue, Ectopic tissue |
| RS587783589 |
DCX
|
Health Risk |
Pathogenic/Likely pathogenic |
Ectopic tissue, Lissencephaly type 1 due to doublecortin gene mutation |
| RS587783590 |
DCX
|
Health Risk |
Pathogenic |
Ectopic tissue, Inborn genetic diseases |
| RS587783591 |
DCX
|
Health Risk |
Pathogenic |
Ectopic tissue, Ectopic tissue |
| RS587783592 |
DCX
|
Health Risk |
Pathogenic |
Ectopic tissue, Lissencephaly |
| RS587783593 |
DCX
|
Health Risk |
Pathogenic |
Ectopic tissue, Ectopic tissue |
| RS587783594 |
DNM2
|
Health Risk |
Likely pathogenic |
Centronuclear myopathy, Centronuclear myopathy |
| RS587783595 |
DNM2
|
Health Risk |
Likely pathogenic |
Centronuclear myopathy, Charcot-Marie-Tooth disease dominant intermediate B |
| RS587783596 |
DNM2
|
Health Risk |
Likely pathogenic |
Charcot-Marie-Tooth disease dominant intermediate B, Centronuclear myopathy |
| RS587783597 |
DNM2
|
Health Risk |
Pathogenic/Likely pathogenic |
Centronuclear myopathy, Charcot-Marie-Tooth disease dominant intermediate B |
| RS587783598 |
DNM2
|
Health Risk |
Pathogenic/Likely pathogenic |
Centronuclear myopathy, Autosomal dominant centronuclear myopathy |
| RS587783599 |
EBP
|
Health Risk |
Pathogenic |
Chondrodysplasia punctata 2 X-linked dominant, MEND syndrome |
| RS587783600 |
EBP
|
Health Risk |
Pathogenic |
Chondrodysplasia punctata 2 X-linked dominant, Chondrodysplasia punctata 2 X-linked dominant |
| RS587783601 |
EBP
|
Health Risk |
Pathogenic/Likely pathogenic |
Chondrodysplasia punctata 2 X-linked dominant, Nonpapillary renal cell carcinoma |
| RS587783602 |
EBP
|
Health Risk |
Likely pathogenic |
Chondrodysplasia punctata 2 X-linked dominant, Chondrodysplasia punctata 2 X-linked dominant |
| RS587783603 |
EBP
|
Health Risk |
Likely pathogenic |
Chondrodysplasia punctata 2 X-linked dominant, Chondrodysplasia punctata 2 X-linked dominant |
| RS587783604 |
EBP
|
Health Risk |
Pathogenic |
Chondrodysplasia punctata 2 X-linked dominant, Chondrodysplasia punctata 2 X-linked dominant |
| RS587783605 |
EBP
|
Health Risk |
Likely pathogenic |
Chondrodysplasia punctata 2 X-linked dominant, Chondrodysplasia punctata 2 X-linked dominant |
| RS587783606 |
EBP
|
Health Risk |
Pathogenic |
Chondrodysplasia punctata 2 X-linked dominant, Chondrodysplasia punctata 2 X-linked dominant |
| RS587783607 |
EBP
|
Health Risk |
Likely pathogenic |
Chondrodysplasia punctata 2 X-linked dominant, Chondrodysplasia punctata 2 X-linked dominant |
| RS587783608 |
EBP
|
Health Risk |
Pathogenic |
Chondrodysplasia punctata 2 X-linked dominant, Chondrodysplasia punctata 2 X-linked dominant |
| RS587783609 |
EBP
|
Health Risk |
Pathogenic |
Chondrodysplasia punctata 2 X-linked dominant, Chondrodysplasia punctata 2 X-linked dominant |
| RS587783610 |
EBP
|
Health Risk |
Likely pathogenic |
Chondrodysplasia punctata 2 X-linked dominant, Chondrodysplasia punctata 2 X-linked dominant |
| RS587783611 |
EBP
|
Health Risk |
Likely pathogenic |
Chondrodysplasia punctata 2 X-linked dominant, Chondrodysplasia punctata 2 X-linked dominant |
| RS587783612 |
EBP
|
Health Risk |
Likely pathogenic |
Chondrodysplasia punctata 2 X-linked dominant, Chondrodysplasia punctata 2 X-linked dominant |
| RS587783613 |
EBP
|
Health Risk |
Pathogenic |
Chondrodysplasia punctata 2 X-linked dominant, Chondrodysplasia punctata 2 X-linked dominant |
| RS587783614 |
EBP
|
Health Risk |
Likely pathogenic |
Chondrodysplasia punctata 2 X-linked dominant, Chondrodysplasia punctata 2 X-linked dominant |
| RS587783615 |
EBP
|
Health Risk |
Pathogenic |
Chondrodysplasia punctata 2 X-linked dominant, Chondrodysplasia punctata 2 X-linked dominant |
| RS587783616 |
EBP
|
Health Risk |
Pathogenic |
Chondrodysplasia punctata 2 X-linked dominant, Chondrodysplasia punctata 2 X-linked dominant |
| RS587783617 |
EBP
|
Health Risk |
Likely pathogenic |
Chondrodysplasia punctata 2 X-linked dominant, Chondrodysplasia punctata 2 X-linked dominant |
| RS587783618 |
EBP
|
Health Risk |
Conflicting classifications of pathogenicity |
Chondrodysplasia punctata 2 X-linked dominant, Chondrodysplasia punctata 2 X-linked dominant |
| RS587783619 |
EBP
|
Health Risk |
Likely pathogenic |
Chondrodysplasia punctata 2 X-linked dominant, Chondrodysplasia punctata 2 X-linked dominant |
| RS587783623 |
ESCO2
|
Health Risk |
Conflicting classifications of pathogenicity |
Roberts-SC phocomelia syndrome, Roberts-SC phocomelia syndrome |
| RS587783624 |
ESCO2
|
Health Risk |
Conflicting classifications of pathogenicity |
Roberts-SC phocomelia syndrome, Roberts-SC phocomelia syndrome |
| RS587783625 |
EZH2
|
Health Risk |
Pathogenic |
Weaver syndrome, EZH2-related disorder |
| RS587783626 |
EZH2
|
Health Risk |
Pathogenic |
Weaver syndrome, EZH2-related disorder |
| RS587783627 |
EZH2
|
Health Risk |
Likely pathogenic |
Weaver syndrome, Weaver syndrome |
| RS587783629 |
FOXG1
|
Health Risk |
Pathogenic |
FOXG1 disorder, FOXG1 disorder |
| RS587783631 |
FOXG1
|
Health Risk |
Pathogenic |
FOXG1 disorder, FOXG1 disorder |
| RS587783635 |
FOXG1
|
Health Risk |
Pathogenic |
FOXG1 disorder, FOXG1 disorder |
| RS587783636 |
FOXG1
|
Health Risk |
Pathogenic |
FOXG1 disorder, Rett syndrome |
| RS587783638 |
FOXG1
|
Health Risk |
Likely pathogenic |
FOXG1 disorder, FOXG1 disorder |
| RS587783640 |
FOXG1
|
Health Risk |
Likely pathogenic |
FOXG1 disorder, Intellectual disability |
| RS587783641 |
FOXG1
|
Health Risk |
Pathogenic/Likely pathogenic |
FOXG1 disorder, FOXG1 disorder |
| RS587783642 |
FOXG1
|
Health Risk |
Pathogenic |
FOXG1 disorder, FOXG1 disorder |
| RS587783643 |
FOXG1
|
Health Risk |
Pathogenic |
FOXG1 disorder, FOXG1 disorder |
| RS587783645 |
GJB2
|
Health Risk |
Likely pathogenic |
Hearing impairment, Autosomal recessive nonsyndromic hearing loss 1A |
| RS587783646 |
GJB2
|
Health Risk |
Pathogenic/Likely pathogenic |
Hearing impairment, Autosomal recessive nonsyndromic hearing loss 1A |
| RS587783647 |
GJB2
|
Health Risk |
Pathogenic/Likely pathogenic |
Hearing impairment, Autosomal recessive nonsyndromic hearing loss 1A |
| RS587783648 |
GP1BB
|
Health Risk |
Likely pathogenic |
Bernard-Soulier syndrome, type B |
| RS587783651 |
ADGRG1
|
Health Risk |
Conflicting classifications of pathogenicity |
Bilateral frontoparietal polymicrogyria, Bilateral frontoparietal polymicrogyria |
| RS587783652 |
ADGRG1
|
Health Risk |
Pathogenic |
Bilateral frontoparietal polymicrogyria, Polymicrogyria |
| RS587783653 |
ADGRG1
|
Health Risk |
Conflicting classifications of pathogenicity |
Bilateral frontoparietal polymicrogyria, Bilateral frontoparietal polymicrogyria |
| RS587783654 |
ADGRG1
|
Health Risk |
Conflicting classifications of pathogenicity |
Bilateral frontoparietal polymicrogyria, Polymicrogyria |
| RS587783655 |
ADGRG1
|
Health Risk |
Pathogenic |
Bilateral frontoparietal polymicrogyria, Bilateral frontoparietal polymicrogyria |
| RS587783656 |
ADGRG1
|
Health Risk |
Likely pathogenic |
Bilateral frontoparietal polymicrogyria, Bilateral frontoparietal polymicrogyria |
| RS587783657 |
ADGRG1
|
Health Risk |
Pathogenic/Likely pathogenic |
Bilateral frontoparietal polymicrogyria, Bilateral frontoparietal polymicrogyria |
| RS587783658 |
ADGRG1
|
Health Risk |
Pathogenic |
Bilateral frontoparietal polymicrogyria, Bilateral frontoparietal polymicrogyria |
| RS587783660 |
ADGRG1
|
Health Risk |
Pathogenic/Likely pathogenic |
Bilateral frontoparietal polymicrogyria, Bilateral frontoparietal polymicrogyria |
| RS587783663 |
HDAC8
|
Health Risk |
Pathogenic |
Cornelia de Lange syndrome 5, Cornelia de Lange syndrome 5 |
| RS587783666 |
KCNJ11
|
Health Risk |
Conflicting classifications of pathogenicity |
Hyperinsulinemic hypoglycemia, familial |
| RS587783667 |
KCNJ11
|
Health Risk |
Conflicting classifications of pathogenicity |
Maturity-onset diabetes of the young, Maturity-onset diabetes of the young |
| RS587783669 |
KCNJ11
|
Health Risk |
Likely pathogenic |
Diabetes mellitus, Diabetes mellitus |
| RS587783670 |
KCNJ11
|
Health Risk |
Pathogenic |
Neonatal insulin-dependent diabetes mellitus, Neonatal insulin-dependent diabetes mellitus |
| RS587783671 |
KCNJ11
|
Health Risk |
Conflicting classifications of pathogenicity |
Neonatal insulin-dependent diabetes mellitus, Neonatal hypoglycemia |
| RS587783672 |
KCNJ11
|
Health Risk |
Pathogenic/Likely pathogenic |
Diabetes mellitus, Maturity-onset diabetes of the young type 13 |
| RS587783673 |
KCNJ11
|
Health Risk |
Pathogenic/Likely risk allele |
Diabetes mellitus, Type 2 diabetes mellitus |
| RS587783674 |
KCNJ11
|
Health Risk |
Pathogenic |
Neonatal insulin-dependent diabetes mellitus, Neonatal insulin-dependent diabetes mellitus |
| RS587783675 |
KCNJ11
|
Health Risk |
Conflicting classifications of pathogenicity |
Diabetes mellitus, Maturity-onset diabetes of the young |
| RS587783676 |
KMT2A
|
Health Risk |
Pathogenic |
Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome |
| RS587783678 |
KMT2A
|
Health Risk |
Pathogenic |
Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome |
| RS587783679 |
KMT2A
|
Health Risk |
Pathogenic |
Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome |
| RS587783680 |
KMT2A
|
Health Risk |
Pathogenic |
Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome |
| RS587783681 |
KMT2D
|
Health Risk |
Pathogenic |
Kabuki syndrome 1, Kabuki syndrome 1 |
| RS587783682 |
KMT2D
|
Health Risk |
Pathogenic/Likely pathogenic |
Kabuki syndrome 1, Kabuki syndrome 1 |
| RS587783683 |
KMT2D
|
Health Risk |
Pathogenic |
Kabuki syndrome 1, Kabuki syndrome |
| RS587783685 |
KMT2D
|
Health Risk |
Pathogenic |
Kabuki syndrome 1, Inborn genetic diseases |