Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554728529
rs1554728529
NOTCH1
C 0.700 CausalMutation CLINVAR Evidence of Aortopathy in Mice with Haploinsufficiency of Notch1 in Nos3-Null Background. 25914885

2019
dbSNP: rs104894635
rs104894635
SGSH
T 0.700 CausalMutation CLINVAR How close are we to therapies for Sanfilippo disease? 28921412

2018
dbSNP: rs104894639
rs104894639
SGSH
T 0.700 CausalMutation CLINVAR How close are we to therapies for Sanfilippo disease? 28921412

2018
dbSNP: rs1242562412
rs1242562412
ERBB2 ; PGAP3
A 0.700 CausalMutation CLINVAR PGAP3-related hyperphosphatasia with mental retardation syndrome: Report of 10 new patients and a homozygous founder mutation. 28390064

2018
dbSNP: rs1304422857
rs1304422857
UBE3B
A 0.700 CausalMutation CLINVAR Kaufman oculocerebrofacial syndrome: Novel UBE3B mutations and clinical features in four unrelated patients. 29160006

2018
dbSNP: rs1348467293
rs1348467293
GUCY2D
A 0.700 CausalMutation CLINVAR Genotype-functional-phenotype correlations in photoreceptor guanylate cyclase (GC-E) encoded by GUCY2D. 29061346

2018
dbSNP: rs137852720
rs137852720
EHMT1
C 0.700 CausalMutation CLINVAR First prenatal diagnosis of a 'pure' 9q34.3 deletion (Kleefstra syndrome): A case report and literature review. 29160022

2018
dbSNP: rs1425166755
rs1425166755
SOX9 ; SOX9-AS1
A 0.700 GeneticVariation CLINVAR The presence of diminished white matter and corpus callosal thinning in a case with a SOX9 mutation. 28965976

2018
dbSNP: rs1437184398
rs1437184398
GPT2
T 0.700 CausalMutation CLINVAR Novel compound heterozygous mutations in GPT2 linked to microcephaly, and intellectual developmental disability with or without spastic paraplegia. 29226631

2018
dbSNP: rs143745703
rs143745703
GUCY2D
G 0.700 CausalMutation CLINVAR Genotype-functional-phenotype correlations in photoreceptor guanylate cyclase (GC-E) encoded by GUCY2D. 29061346

2018
dbSNP: rs147001633
rs147001633
DNMT3A
T 0.700 CausalMutation CLINVAR Identification of De Novo DNMT3A Mutations That Cause West Syndrome by Using Whole-Exome Sequencing. 28386848

2018
dbSNP: rs1553352926
rs1553352926
BCL11A
G 0.700 CausalMutation CLINVAR BCL11A frameshift mutation associated with dyspraxia and hypotonia affecting the fine, gross, oral, and speech motor systems. 28960836

2018
dbSNP: rs1553352926
rs1553352926
BCL11A
G 0.700 CausalMutation CLINVAR Identification of novel BCL11A variants in patients with epileptic encephalopathy: Expanding the phenotypic spectrum. 28589569

2018
dbSNP: rs1553749681
rs1553749681
DOCK3
T 0.700 GeneticVariation CLINVAR DOCK3-related neurodevelopmental syndrome: Biallelic intragenic deletion of DOCK3 in a boy with developmental delay and hypotonia. 29130632

2018
dbSNP: rs1554129039
rs1554129039
PURA
C 0.700 CausalMutation CLINVAR PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature. 29097605

2018
dbSNP: rs1554129039
rs1554129039
PURA
C 0.700 CausalMutation CLINVAR Expanding the neurodevelopmental phenotype of PURA syndrome. 29150892

2018
dbSNP: rs1554643473
rs1554643473
PUF60
C 0.700 GeneticVariation CLINVAR Exome sequencing reveals NAA15 and PUF60 as candidate genes associated with intellectual disability. 28990276

2018
dbSNP: rs1554643598
rs1554643598
PUF60
G 0.700 CausalMutation CLINVAR Exome sequencing reveals NAA15 and PUF60 as candidate genes associated with intellectual disability. 28990276

2018
dbSNP: rs1554698878
rs1554698878
HNRNPK
A 0.700 GeneticVariation CLINVAR Clinical spectrum of Kabuki-like syndrome caused by HNRNPK haploinsufficiency. 28374925

2018
dbSNP: rs1555240361
rs1555240361
MED13L
A 0.700 CausalMutation CLINVAR MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence. 29159987

2018
dbSNP: rs1555240376
rs1555240376
MED13L
T 0.700 CausalMutation CLINVAR MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence. 29159987

2018
dbSNP: rs1555243099
rs1555243099
MED13L
T 0.700 GeneticVariation CLINVAR MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence. 29159987

2018
dbSNP: rs1555244216
rs1555244216
MED13L
C 0.700 GeneticVariation CLINVAR MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence. 29159987

2018
dbSNP: rs1555247469
rs1555247469
MED13L
C 0.700 CausalMutation CLINVAR MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence. 29159987

2018
dbSNP: rs1555247853
rs1555247853
MED13L
TGTTCGAG 0.700 CausalMutation CLINVAR MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence. 29159987

2018