Gene: KMT2D ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587783685
rs587783685
KMT2D
A 0.700 CausalMutation CLINVAR KMT2D p.Gln3575His segregating in a family with autosomal dominant choanal atresia strengthens the Kabuki/CHARGE connection. 27991736

2017
dbSNP: rs587783685
rs587783685
KMT2D
A 0.700 CausalMutation CLINVAR Interrupted/bipartite clavicle as a diagnostic clue in Kabuki syndrome. 28256057

2017
dbSNP: rs587783685
rs587783685
KMT2D
A 0.700 CausalMutation CLINVAR Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations. 28295206

2017
dbSNP: rs587783685
rs587783685
KMT2D
A 0.700 CausalMutation CLINVAR Congenital heart defects in molecularly proven Kabuki syndrome patients. 28884922

2017
dbSNP: rs587783685
rs587783685
KMT2D
A 0.700 CausalMutation CLINVAR Pilomatricoma Associated with Kabuki Syndrome. 27778401

2017
dbSNP: rs587783685
rs587783685
KMT2D
A 0.700 CausalMutation CLINVAR Novel homozygous missense mutation in NT5C2 underlying hereditary spastic paraplegia SPG45. 28884889

2017
dbSNP: rs587783690
rs587783690
KMT2D
A 0.700 CausalMutation CLINVAR Interrupted/bipartite clavicle as a diagnostic clue in Kabuki syndrome. 28256057

2017
dbSNP: rs587783690
rs587783690
KMT2D
A 0.700 CausalMutation CLINVAR Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations. 28295206

2017
dbSNP: rs587783690
rs587783690
KMT2D
A 0.700 CausalMutation CLINVAR Novel homozygous missense mutation in NT5C2 underlying hereditary spastic paraplegia SPG45. 28884889

2017
dbSNP: rs587783690
rs587783690
KMT2D
A 0.700 CausalMutation CLINVAR Pilomatricoma Associated with Kabuki Syndrome. 27778401

2017
dbSNP: rs587783690
rs587783690
KMT2D
A 0.700 CausalMutation CLINVAR Congenital heart defects in molecularly proven Kabuki syndrome patients. 28884922

2017
dbSNP: rs587783690
rs587783690
KMT2D
A 0.700 CausalMutation CLINVAR KMT2D p.Gln3575His segregating in a family with autosomal dominant choanal atresia strengthens the Kabuki/CHARGE connection. 27991736

2017
dbSNP: rs587783685
rs587783685
KMT2D
A 0.700 CausalMutation CLINVAR Recurrent giant cell fibroblastoma: Malignancy predisposition in Kabuki syndrome revisited. 26898171

2016
dbSNP: rs587783685
rs587783685
KMT2D
A 0.700 CausalMutation CLINVAR Defects of B-cell terminal differentiation in patients with type-1 Kabuki syndrome. 26194542

2016
dbSNP: rs587783685
rs587783685
KMT2D
A 0.700 CausalMutation CLINVAR Kabuki syndrome as a cause of non-immune fetal hydrops/ascites. 27568880

2016
dbSNP: rs587783685
rs587783685
KMT2D
A 0.700 CausalMutation CLINVAR A novel KMT2D mutation resulting in Kabuki syndrome: A case report. 27573763

2016
dbSNP: rs587783690
rs587783690
KMT2D
A 0.700 CausalMutation CLINVAR A novel KMT2D mutation resulting in Kabuki syndrome: A case report. 27573763

2016
dbSNP: rs587783690
rs587783690
KMT2D
A 0.700 CausalMutation CLINVAR Kabuki syndrome as a cause of non-immune fetal hydrops/ascites. 27568880

2016
dbSNP: rs587783690
rs587783690
KMT2D
A 0.700 CausalMutation CLINVAR Recurrent giant cell fibroblastoma: Malignancy predisposition in Kabuki syndrome revisited. 26898171

2016
dbSNP: rs587783690
rs587783690
KMT2D
A 0.700 CausalMutation CLINVAR Defects of B-cell terminal differentiation in patients with type-1 Kabuki syndrome. 26194542

2016
dbSNP: rs587783685
rs587783685
KMT2D
A 0.700 CausalMutation CLINVAR Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development. 25972376

2015
dbSNP: rs587783685
rs587783685
KMT2D
A 0.700 CausalMutation CLINVAR Kabuki syndrome: expanding the phenotype to include microphthalmia and anophthalmia. 26049589

2015
dbSNP: rs587783690
rs587783690
KMT2D
A 0.700 CausalMutation CLINVAR Kabuki syndrome: expanding the phenotype to include microphthalmia and anophthalmia. 26049589

2015
dbSNP: rs587783690
rs587783690
KMT2D
A 0.700 CausalMutation CLINVAR Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development. 25972376

2015
dbSNP: rs587783685
rs587783685
KMT2D
A 0.700 CausalMutation CLINVAR MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study. 23320472

2013