Gene: KMT2D ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555184787
rs1555184787
KMT2D
TG 0.700 CausalMutation CLINVAR KMT2D p.Gln3575His segregating in a family with autosomal dominant choanal atresia strengthens the Kabuki/CHARGE connection. 27991736

2017
dbSNP: rs1555184787
rs1555184787
KMT2D
TG 0.700 CausalMutation CLINVAR Interrupted/bipartite clavicle as a diagnostic clue in Kabuki syndrome. 28256057

2017
dbSNP: rs1555184787
rs1555184787
KMT2D
TG 0.700 CausalMutation CLINVAR Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations. 28295206

2017
dbSNP: rs1555184787
rs1555184787
KMT2D
TG 0.700 CausalMutation CLINVAR Pilomatricoma Associated with Kabuki Syndrome. 27778401

2017
dbSNP: rs1555184787
rs1555184787
KMT2D
TG 0.700 CausalMutation CLINVAR Congenital heart defects in molecularly proven Kabuki syndrome patients. 28884922

2017
dbSNP: rs1555184787
rs1555184787
KMT2D
TG 0.700 CausalMutation CLINVAR Novel homozygous missense mutation in NT5C2 underlying hereditary spastic paraplegia SPG45. 28884889

2017
dbSNP: rs1555187440
rs1555187440
KMT2D
A 0.700 CausalMutation CLINVAR Interrupted/bipartite clavicle as a diagnostic clue in Kabuki syndrome. 28256057

2017
dbSNP: rs1555187440
rs1555187440
KMT2D
A 0.700 CausalMutation CLINVAR Pilomatricoma Associated with Kabuki Syndrome. 27778401

2017
dbSNP: rs1555187440
rs1555187440
KMT2D
A 0.700 CausalMutation CLINVAR Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations. 28295206

2017
dbSNP: rs1555187440
rs1555187440
KMT2D
A 0.700 CausalMutation CLINVAR Congenital heart defects in molecularly proven Kabuki syndrome patients. 28884922

2017
dbSNP: rs1555187440
rs1555187440
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: rs1555187440
rs1555187440
KMT2D
A 0.700 CausalMutation CLINVAR Novel homozygous missense mutation in NT5C2 underlying hereditary spastic paraplegia SPG45. 28884889

2017
dbSNP: rs1555188379
rs1555188379
KMT2D
A 0.700 CausalMutation CLINVAR Congenital heart defects in molecularly proven Kabuki syndrome patients. 28884922

2017
dbSNP: rs1555188379
rs1555188379
KMT2D
A 0.700 CausalMutation CLINVAR Interrupted/bipartite clavicle as a diagnostic clue in Kabuki syndrome. 28256057

2017
dbSNP: rs1555188379
rs1555188379
KMT2D
A 0.700 CausalMutation CLINVAR Novel homozygous missense mutation in NT5C2 underlying hereditary spastic paraplegia SPG45. 28884889

2017
dbSNP: rs1555188379
rs1555188379
KMT2D
A 0.700 CausalMutation CLINVAR Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations. 28295206

2017
dbSNP: rs1555188379
rs1555188379
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: rs1555188379
rs1555188379
KMT2D
A 0.700 CausalMutation CLINVAR Pilomatricoma Associated with Kabuki Syndrome. 27778401

2017
dbSNP: rs1555188623
rs1555188623
KMT2D
ACCAGCCTGTGT 0.700 CausalMutation CLINVAR Congenital heart defects in molecularly proven Kabuki syndrome patients. 28884922

2017
dbSNP: rs1555188623
rs1555188623
KMT2D
ACCAGCCTGTGT 0.700 CausalMutation CLINVAR Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations. 28295206

2017
dbSNP: rs1555188623
rs1555188623
KMT2D
ACCAGCCTGTGT 0.700 CausalMutation CLINVAR KMT2D p.Gln3575His segregating in a family with autosomal dominant choanal atresia strengthens the Kabuki/CHARGE connection. 27991736

2017
dbSNP: rs1555188623
rs1555188623
KMT2D
ACCAGCCTGTGT 0.700 CausalMutation CLINVAR Pilomatricoma Associated with Kabuki Syndrome. 27778401

2017
dbSNP: rs1555188623
rs1555188623
KMT2D
ACCAGCCTGTGT 0.700 CausalMutation CLINVAR Interrupted/bipartite clavicle as a diagnostic clue in Kabuki syndrome. 28256057

2017
dbSNP: rs1555188623
rs1555188623
KMT2D
ACCAGCCTGTGT 0.700 CausalMutation CLINVAR Novel homozygous missense mutation in NT5C2 underlying hereditary spastic paraplegia SPG45. 28884889

2017
dbSNP: rs1555194443
rs1555194443
KMT2D
C 0.700 CausalMutation CLINVAR Pilomatricoma Associated with Kabuki Syndrome. 27778401

2017