KITLG Chromosome 12
KIT ligand
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What This Gene Does
This gene encodes the ligand of the tyrosine-kinase receptor encoded by the KIT locus. This ligand is a pleiotropic factor that acts in utero in germ cell and neural cell development, and hematopoiesis, all believed to reflect a role in cell migration. In adults, it functions pleiotropically, while mostly noted for its continued requirement in hematopoiesis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Associated Conditions (7)
Autosomal dominant nonsyndromic hearing loss 69
Hyperpigmentation with or without hypopigmentation
familial progressive
Waardenburg syndrome
IIa 2F
SKIN/HAIR/EYE PIGMENTATION 7
DARK/LIGHT SKIN
Key Variants
RS140316904
Conflicting classifications of pathogenicity
Health Risk
RS768146588
Conflicting classifications of pathogenicity
Autosomal dominant nonsyndromic hearing loss 69, Autosomal dominant nonsyndromic hearing loss 69
Health Risk
RS2499184191
Likely pathogenic
Hyperpigmentation with or without hypopigmentation, familial progressive, Hyperpigmentation with or without hypopigmentation
Health Risk
RS2499184366
Likely pathogenic
Autosomal dominant nonsyndromic hearing loss 69, Autosomal dominant nonsyndromic hearing loss 69
Health Risk
RS1057520539
Pathogenic
Hyperpigmentation with or without hypopigmentation, familial progressive, Hyperpigmentation with or without hypopigmentation
Health Risk
RS121918653
Pathogenic
Hyperpigmentation with or without hypopigmentation, familial progressive, Hyperpigmentation with or without hypopigmentation
Health Risk
RS1404903521
Pathogenic
Waardenburg syndrome, IIa 2F, Waardenburg syndrome
Health Risk
RS1870699640
Pathogenic
Waardenburg syndrome, IIa 2F, Waardenburg syndrome
Health Risk
RS730882156
Pathogenic
Hyperpigmentation with or without hypopigmentation, familial progressive, Hyperpigmentation with or without hypopigmentation
Health Risk
RS730882157
Pathogenic
Hyperpigmentation with or without hypopigmentation, familial progressive, Hyperpigmentation with or without hypopigmentation
Health Risk
RS751013211
Pathogenic
Waardenburg syndrome, IIa 2F, Waardenburg syndrome
Health Risk
All Variants (13)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS140316904 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS768146588 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nonsyndromic hearing loss 69, Autosomal dominant nonsyndromic hearing loss 69 |
| RS2499184191 | Health Risk | Likely pathogenic | Hyperpigmentation with or without hypopigmentation, familial progressive, Hyperpigmentation with or without hypopigmentation |
| RS2499184366 | Health Risk | Likely pathogenic | Autosomal dominant nonsyndromic hearing loss 69, Autosomal dominant nonsyndromic hearing loss 69 |
| RS1057520539 | Health Risk | Pathogenic | Hyperpigmentation with or without hypopigmentation, familial progressive, Hyperpigmentation with or without hypopigmentation |
| RS121918653 | Health Risk | Pathogenic | Hyperpigmentation with or without hypopigmentation, familial progressive, Hyperpigmentation with or without hypopigmentation |
| RS1404903521 | Health Risk | Pathogenic | Waardenburg syndrome, IIa 2F, Waardenburg syndrome |
| RS1870699640 | Health Risk | Pathogenic | Waardenburg syndrome, IIa 2F, Waardenburg syndrome |
| RS730882156 | Health Risk | Pathogenic | Hyperpigmentation with or without hypopigmentation, familial progressive, Hyperpigmentation with or without hypopigmentation |
| RS730882157 | Health Risk | Pathogenic | Hyperpigmentation with or without hypopigmentation, familial progressive, Hyperpigmentation with or without hypopigmentation |
| RS751013211 | Health Risk | Pathogenic | Waardenburg syndrome, IIa 2F, Waardenburg syndrome |
| RS12821256 | Trait | Affects | SKIN/HAIR/EYE PIGMENTATION 7, DARK/LIGHT SKIN, SKIN/HAIR/EYE PIGMENTATION 7 |
| RS642742 | Trait | Affects | SKIN/HAIR/EYE PIGMENTATION 7, DARK/LIGHT SKIN, SKIN/HAIR/EYE PIGMENTATION 7 |