Disease: Waardenburg Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553704814
rs1553704814
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C3266898
Disease:
Waardenburg Syndrome 		C 0.700 CausalMutation CLINVAR Prenatal diagnosis and genetic counseling for Waardenburg syndrome type I and II in Chinese families. 29115496 2018
dbSNP: rs1553704814
rs1553704814
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C3266898
Disease:
Waardenburg Syndrome 		C 0.700 CausalMutation CLINVAR Wnt signaling pathway involvement in genotypic and phenotypic variations in Waardenburg syndrome type 2 with MITF mutations. 29531335 2018
dbSNP: rs1553704814
rs1553704814
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C3266898
Disease:
Waardenburg Syndrome 		C 0.700 CausalMutation CLINVAR Creation of miniature pig model of human Waardenburg syndrome type 2A by ENU mutagenesis. 29094203 2017
dbSNP: rs1553704814
rs1553704814
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C3266898
Disease:
Waardenburg Syndrome 		C 0.700 CausalMutation CLINVAR A novel mutation of the MITF gene in a family with Waardenburg syndrome type 2: A case report. 27073475 2016
dbSNP: rs1553704814
rs1553704814
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C3266898
Disease:
Waardenburg Syndrome 		C 0.700 CausalMutation CLINVAR Clinical and genetic investigation of families with type II Waardenburg syndrome. 26781036 2016
dbSNP: rs1553704814
rs1553704814
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C3266898
Disease:
Waardenburg Syndrome 		C 0.700 CausalMutation CLINVAR Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness. 27889061 2016
dbSNP: rs1553704814
rs1553704814
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C3266898
Disease:
Waardenburg Syndrome 		C 0.700 CausalMutation CLINVAR Genetic and phenotypic heterogeneity in Chinese patients with Waardenburg syndrome type II. 24194866 2013
dbSNP: rs1553704814
rs1553704814
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C3266898
Disease:
Waardenburg Syndrome 		C 0.700 CausalMutation CLINVAR MITF mutations associated with pigment deficiency syndromes and melanoma have different effects on protein function. 23787126 2013
dbSNP: rs1553704814
rs1553704814
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C3266898
Disease:
Waardenburg Syndrome 		C 0.700 CausalMutation CLINVAR Novel and recurrent non-truncating mutations of the MITF basic domain: genotypic and phenotypic variations in Waardenburg and Tietz syndromes. 22258527 2012
dbSNP: rs1553704814
rs1553704814
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C3266898
Disease:
Waardenburg Syndrome 		C 0.700 CausalMutation CLINVAR Effect of the mutant microphthalmia-associated transcription factor found in Tietz syndrome on the in vitro development of mast cells. 20485200 2010
dbSNP: rs1553704814
rs1553704814
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C3266898
Disease:
Waardenburg Syndrome 		C 0.700 CausalMutation CLINVAR Novel mutations of PAX3, MITF, and SOX10 genes in Chinese patients with type I or type II Waardenburg syndrome. 20478267 2010
dbSNP: rs1553704814
rs1553704814
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C3266898
Disease:
Waardenburg Syndrome 		C 0.700 CausalMutation CLINVAR The mutational spectrum in Waardenburg syndrome. 8589691 1995
dbSNP: rs1057518765
rs1057518765
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C3266898
Disease:
Waardenburg Syndrome 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs104893746
rs104893746
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C3266898
Disease:
Waardenburg Syndrome 		0.010 GeneticVariation BEFREE A rare case of Waardenburg syndrome with unilateral hearing loss caused by nonsense variant c.772C>T (p.Arg259*) in the <i>MITF</i> gene in Yakut patient from the Eastern Siberia (Sakha Republic, Russia). 31213145 2019
dbSNP: rs763119975
rs763119975
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C3266898
Disease:
Waardenburg Syndrome 		0.010 GeneticVariation BEFREE In contrast, their two children both carried a homozygous p.R223H mutation and had classic WS features including profound hearing loss, heterochromia irides and marked pigmentary abnormalities in hair and skin. 30549420 2019
dbSNP: rs876657699
rs876657699
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C3266898
Disease:
Waardenburg Syndrome 		0.010 GeneticVariation BEFREE A rare case of Waardenburg syndrome with unilateral hearing loss caused by nonsense variant c.772C>T (p.Arg259*) in the <i>MITF</i> gene in Yakut patient from the Eastern Siberia (Sakha Republic, Russia). 31213145 2019