Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555185217
rs1555185217
KMT2D
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		T 0.800 CausalMutation CLINVAR

dbSNP: rs200088180
rs200088180
KMT2D
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		T 0.800 GeneticVariation CLINVAR

dbSNP: rs267607237
rs267607237
KMT2D
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		T 0.800 GeneticVariation CLINVAR

dbSNP: rs267607237
rs267607237
KMT2D
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		T 0.800 CausalMutation CLINVAR

dbSNP: rs398123724
rs398123724
KMT2D
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		A 0.800 CausalMutation CLINVAR Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2. 27302555

2016
dbSNP: rs398123724
rs398123724
KMT2D
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		A 0.800 CausalMutation CLINVAR Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development. 25972376

2015
dbSNP: rs398123724
rs398123724
KMT2D
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		A 0.800 GeneticVariation CLINVAR Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development. 25972376

2015
dbSNP: rs398123724
rs398123724
KMT2D
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		A 0.800 CausalMutation CLINVAR MLL2 and KDM6A mutations in patients with Kabuki syndrome. 23913813

2013
dbSNP: rs398123724
rs398123724
KMT2D
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		A 0.800 CausalMutation CLINVAR How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum. 22126750

2012
dbSNP: rs398123724
rs398123724
KMT2D
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		A 0.800 CausalMutation CLINVAR Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome. 21671394

2011
dbSNP: rs398123724
rs398123724
KMT2D
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		A 0.800 CausalMutation CLINVAR Further evidence of dominant inheritance of Kabuki syndrome. 19625956

2009
dbSNP: rs886043497
rs886043497
KMT2D
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		T 0.800 CausalMutation CLINVAR Congenital heart defects in molecularly proven Kabuki syndrome patients. 28884922

2017
dbSNP: rs886043497
rs886043497
KMT2D
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		T 0.800 CausalMutation CLINVAR Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2. 27302555

2016
dbSNP: rs886043497
rs886043497
KMT2D
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		T 0.800 CausalMutation CLINVAR Speech and language in a genotyped cohort of individuals with Kabuki syndrome. 25755104

2015
dbSNP: rs886043497
rs886043497
KMT2D
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		T 0.800 CausalMutation CLINVAR MLL2 and KDM6A mutations in patients with Kabuki syndrome. 23913813

2013
dbSNP: rs886043497
rs886043497
KMT2D
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		T 0.800 CausalMutation CLINVAR A mutation screen in patients with Kabuki syndrome. 21607748

2011
dbSNP: rs1057516039
rs1057516039
KMT2D
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		T 0.700 CausalMutation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784

2016
dbSNP: rs1057516039
rs1057516039
KMT2D
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		T 0.700 CausalMutation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784

2016
dbSNP: rs1057516039
rs1057516039
KMT2D
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		T 0.700 CausalMutation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784

2016
dbSNP: rs1057516039
rs1057516039
KMT2D
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		T 0.700 CausalMutation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784

2016
dbSNP: rs1057516039
rs1057516039
KMT2D
CUI: C4024630
Disease: Partially duplicated kidney
Partially duplicated kidney 		T 0.700 CausalMutation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784

2016
dbSNP: rs1057517992
rs1057517992
KMT2D
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1057517992
rs1057517992
KMT2D
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518149
rs1057518149
KMT2D
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1057518571
rs1057518571
KMT2D
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		A 0.700 CausalMutation CLINVAR Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2. 27302555

2016