MITF Chromosome 3

Melanocyte inducing transcription factor
119 variants 119 Health Risk

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What This Gene Does
The protein encoded by this gene is a transcription factor that contains both basic helix-loop-helix and leucine zipper structural features. The encoded protein regulates melanocyte development and is responsible for pigment cell-specific transcription of the melanogenesis enzyme genes. Heterozygous mutations in the this gene cause auditory-pigmentary syndromes, such as Waardenburg syndrome type 2 and Tietz syndrome. [provided by RefSeq, Aug 2017]
Gene Info
Gene Group
Basic helix-loop-helix proteins
Locus Type
gene with protein product
Location
3p13
Ensembl
ENSG00000187098
Associated Conditions (31)
Waardenburg syndrome type 2A
Tietz syndrome
Melanoma
cutaneous malignant
susceptibility to
8
MITF-related disorder
Hereditary cancer-predisposing syndrome
Coloboma
osteopetrosis
microphthalmia
macrocephaly
albinism
and deafness
Uveal melanoma
Familial melanoma
Intellectual disability
Waardenburg syndrome type 2
Anophthalmia-microphthalmia syndrome
Waardenburg syndrome
+11 more conditions
Key Variants
RS1032758072
Conflicting classifications of pathogenicity
Waardenburg syndrome type 2A, Tietz syndrome, Melanoma
Health Risk
RS1057522775
Conflicting classifications of pathogenicity
Melanoma, cutaneous malignant, susceptibility to
Health Risk
RS1179860852
Conflicting classifications of pathogenicity
Melanoma, cutaneous malignant, susceptibility to
Health Risk
RS1193795003
Conflicting classifications of pathogenicity
Waardenburg syndrome type 2A, Tietz syndrome, Melanoma
Health Risk
RS1271000541
Conflicting classifications of pathogenicity
Waardenburg syndrome type 2A, MITF-related disorder, Tietz syndrome
Health Risk
RS137944487
Conflicting classifications of pathogenicity
Tietz syndrome, Melanoma, cutaneous malignant
Health Risk
RS1388406920
Conflicting classifications of pathogenicity
Tietz syndrome, Waardenburg syndrome type 2A, Melanoma
Health Risk
RS143224466
Conflicting classifications of pathogenicity
Tietz syndrome, Waardenburg syndrome type 2A, Melanoma
Health Risk
RS143537610
Conflicting classifications of pathogenicity
Melanoma, cutaneous malignant, susceptibility to
Health Risk
RS144757214
Conflicting classifications of pathogenicity
Tietz syndrome, Waardenburg syndrome type 2A, Melanoma
Health Risk
RS145325518
Conflicting classifications of pathogenicity
Waardenburg syndrome type 2A, Tietz syndrome, Melanoma
Health Risk
RS147883651
Conflicting classifications of pathogenicity
Tietz syndrome, Waardenburg syndrome type 2A, Melanoma
Health Risk
All Variants (119)
RSID Category Clinical Significance Conditions
RS1032758072 Health Risk Conflicting classifications of pathogenicity Waardenburg syndrome type 2A, Tietz syndrome, Melanoma
RS1057522775 Health Risk Conflicting classifications of pathogenicity Melanoma, cutaneous malignant, susceptibility to
RS1179860852 Health Risk Conflicting classifications of pathogenicity Melanoma, cutaneous malignant, susceptibility to
RS1193795003 Health Risk Conflicting classifications of pathogenicity Waardenburg syndrome type 2A, Tietz syndrome, Melanoma
RS1271000541 Health Risk Conflicting classifications of pathogenicity Waardenburg syndrome type 2A, MITF-related disorder, Tietz syndrome
RS137944487 Health Risk Conflicting classifications of pathogenicity Tietz syndrome, Melanoma, cutaneous malignant
RS1388406920 Health Risk Conflicting classifications of pathogenicity Tietz syndrome, Waardenburg syndrome type 2A, Melanoma
RS143224466 Health Risk Conflicting classifications of pathogenicity Tietz syndrome, Waardenburg syndrome type 2A, Melanoma
RS143537610 Health Risk Conflicting classifications of pathogenicity Melanoma, cutaneous malignant, susceptibility to
RS144757214 Health Risk Conflicting classifications of pathogenicity Tietz syndrome, Waardenburg syndrome type 2A, Melanoma
RS145325518 Health Risk Conflicting classifications of pathogenicity Waardenburg syndrome type 2A, Tietz syndrome, Melanoma
RS147883651 Health Risk Conflicting classifications of pathogenicity Tietz syndrome, Waardenburg syndrome type 2A, Melanoma
RS149249176 Health Risk Conflicting classifications of pathogenicity Melanoma, cutaneous malignant, susceptibility to
RS150591206 Health Risk Conflicting classifications of pathogenicity Waardenburg syndrome type 2A, Tietz syndrome, Melanoma
RS150995386 Health Risk Conflicting classifications of pathogenicity Waardenburg syndrome type 2A, Tietz syndrome, Melanoma
RS1559751245 Health Risk Conflicting classifications of pathogenicity Tietz syndrome, Waardenburg syndrome type 2A, Melanoma
RS1576007776 Health Risk Conflicting classifications of pathogenicity Tietz syndrome, Melanoma, cutaneous malignant
RS199779059 Health Risk Conflicting classifications of pathogenicity Tietz syndrome, Waardenburg syndrome type 2A, Melanoma
RS199992377 Health Risk Conflicting classifications of pathogenicity Tietz syndrome, Waardenburg syndrome type 2A, Melanoma
RS200580325 Health Risk Conflicting classifications of pathogenicity Melanoma, cutaneous malignant, susceptibility to
RS201353723 Health Risk Conflicting classifications of pathogenicity Tietz syndrome, Waardenburg syndrome type 2A, Melanoma
RS202020443 Health Risk Conflicting classifications of pathogenicity Tietz syndrome, Waardenburg syndrome type 2A, Melanoma
RS2066265350 Health Risk Conflicting classifications of pathogenicity Intellectual disability, Waardenburg syndrome type 2A, Melanoma
RS2066399994 Health Risk Conflicting classifications of pathogenicity Tietz syndrome, Waardenburg syndrome type 2A, Melanoma
RS2471579611 Health Risk Conflicting classifications of pathogenicity Tietz syndrome, Waardenburg syndrome type 2A, Melanoma
RS368915509 Health Risk Conflicting classifications of pathogenicity Waardenburg syndrome type 2A, Tietz syndrome, Melanoma
RS370323877 Health Risk Conflicting classifications of pathogenicity Tietz syndrome, Waardenburg syndrome type 2A, Melanoma
RS370391171 Health Risk Conflicting classifications of pathogenicity Waardenburg syndrome type 2A, Tietz syndrome, Melanoma
RS371080525 Health Risk Conflicting classifications of pathogenicity MITF-related disorder, MITF-related disorder
RS373660547 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, MITF-related disorder, Hereditary cancer-predisposing syndrome
RS528276006 Health Risk Conflicting classifications of pathogenicity Waardenburg syndrome type 2A, Tietz syndrome, Waardenburg syndrome type 2A
RS548265796 Health Risk Conflicting classifications of pathogenicity Tietz syndrome, Waardenburg syndrome type 2A, Melanoma
RS554738793 Health Risk Conflicting classifications of pathogenicity Tietz syndrome, Waardenburg syndrome type 2A, Melanoma
RS560808156 Health Risk Conflicting classifications of pathogenicity Melanoma, cutaneous malignant, susceptibility to
RS748644115 Health Risk Conflicting classifications of pathogenicity Waardenburg syndrome type 2A, Tietz syndrome, Melanoma
RS749465060 Health Risk Conflicting classifications of pathogenicity Tietz syndrome, Waardenburg syndrome type 2A, Melanoma
RS749645437 Health Risk Conflicting classifications of pathogenicity Tietz syndrome, Waardenburg syndrome type 2A, Melanoma
RS749869303 Health Risk Conflicting classifications of pathogenicity Melanoma, cutaneous malignant, susceptibility to
RS751147980 Health Risk Conflicting classifications of pathogenicity Waardenburg syndrome type 2A, Tietz syndrome, Melanoma
RS751890826 Health Risk Conflicting classifications of pathogenicity Tietz syndrome, Waardenburg syndrome type 2A, Melanoma
RS752788538 Health Risk Conflicting classifications of pathogenicity Melanoma, cutaneous malignant, susceptibility to
RS761038653 Health Risk Conflicting classifications of pathogenicity Waardenburg syndrome type 2A, Tietz syndrome, Hereditary cancer-predisposing syndrome
RS764322456 Health Risk Conflicting classifications of pathogenicity Tietz syndrome, Waardenburg syndrome type 2A, Melanoma
RS766118369 Health Risk Conflicting classifications of pathogenicity Tietz syndrome, Waardenburg syndrome type 2A, Melanoma
RS766938558 Health Risk Conflicting classifications of pathogenicity Tietz syndrome, Melanoma, cutaneous malignant
RS768418058 Health Risk Conflicting classifications of pathogenicity MITF-related disorder, Melanoma, cutaneous malignant
RS771316323 Health Risk Conflicting classifications of pathogenicity MITF-related disorder, Melanoma, cutaneous malignant
RS774944729 Health Risk Conflicting classifications of pathogenicity Waardenburg syndrome type 2A, Melanoma, cutaneous malignant
RS775489256 Health Risk Conflicting classifications of pathogenicity Melanoma, cutaneous malignant, susceptibility to
RS869025259 Health Risk Conflicting classifications of pathogenicity Anophthalmia-microphthalmia syndrome, Anophthalmia-microphthalmia syndrome
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