rs1348892740
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Evidence of Aortopathy in Mice with Haploinsufficiency of Notch1 in Nos3-Null Background.
|
25914885 |
2019 |
rs1554728529
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Evidence of Aortopathy in Mice with Haploinsufficiency of Notch1 in Nos3-Null Background.
|
25914885 |
2019 |
rs1554826746
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Evidence of Aortopathy in Mice with Haploinsufficiency of Notch1 in Nos3-Null Background.
|
25914885 |
2019 |
rs1057519927
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Hypoglycaemia represents a clinically significant manifestation of PIK3CA- and CCND2-associated segmental overgrowth.
|
28941273 |
2018 |
rs1064794957
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
A novel de novo activating mutation in STAT3 identified in a patient with common variable immunodeficiency (CVID).
|
29180260 |
2018 |
rs1131692232
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Exome sequencing reveals NAA15 and PUF60 as candidate genes associated with intellectual disability.
|
28990276 |
2018 |
rs1304422857
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Kaufman oculocerebrofacial syndrome: Novel UBE3B mutations and clinical features in four unrelated patients.
|
29160006 |
2018 |
rs1348467293
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Genotype-functional-phenotype correlations in photoreceptor guanylate cyclase (GC-E) encoded by GUCY2D.
|
29061346 |
2018 |
rs143745703
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Genotype-functional-phenotype correlations in photoreceptor guanylate cyclase (GC-E) encoded by GUCY2D.
|
29061346 |
2018 |
rs147001633
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Identification of De Novo DNMT3A Mutations That Cause West Syndrome by Using Whole-Exome Sequencing.
|
28386848 |
2018 |
rs1554396271
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
A novel COL1A2 C-propeptide cleavage site mutation causing high bone mass osteogenesis imperfecta with a regional distribution pattern.
|
28916840 |
2018 |
rs1554396271
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Osteogenesis imperfecta - A clinical update.
|
28625337 |
2018 |
rs1554643463
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Exome sequencing reveals NAA15 and PUF60 as candidate genes associated with intellectual disability.
|
28990276 |
2018 |
rs1554643598
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Exome sequencing reveals NAA15 and PUF60 as candidate genes associated with intellectual disability.
|
28990276 |
2018 |
rs1554698878
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Clinical spectrum of Kabuki-like syndrome caused by HNRNPK haploinsufficiency.
|
28374925 |
2018 |
rs1555240361
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence.
|
29159987 |
2018 |
rs1555240376
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence.
|
29159987 |
2018 |
rs1555248020
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence.
|
29159987 |
2018 |
rs1556105875
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
A Family with Craniofrontonasal Syndrome: The First Report of Familial Cases of Craniofrontonasal Syndrome with Bilateral Cleft Lip and Palate.
|
28140668 |
2018 |
rs199470477
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
A novel truncating variant within exon 7 of KAT6B associated with features of both Say-Barber-Bieseker-Young-Simpson syndrome and genitopatellar syndrome: Further evidence of a continuum in the clinical spectrum of KAT6B-related disorders.
|
29226580 |
2018 |
rs587777621
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Hypoglycaemia represents a clinically significant manifestation of PIK3CA- and CCND2-associated segmental overgrowth.
|
28941273 |
2018 |
rs672601370
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Whole-exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: Outcomes from a cohort of 50 families.
|
28708278 |
2018 |
rs72658127
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Osteogenesis imperfecta - A clinical update.
|
28625337 |
2018 |
rs72658127
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
A novel COL1A2 C-propeptide cleavage site mutation causing high bone mass osteogenesis imperfecta with a regional distribution pattern.
|
28916840 |
2018 |
rs777218310
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Mitochondrial Encephalopathy and Transient 3-Methylglutaconic Aciduria in ECHS1 Deficiency: Long-Term Follow-Up.
|
28755360 |
2018 |