ALMS1 Chromosome 2

ALMS1 centrosome and basal body associated protein
1249 variants 1249 Health Risk

Upload your DNA to see your personal genotypes for variants in ALMS1.

What This Gene Does
This gene encodes a protein containing a large tandem-repeat domain as well as additional low complexity regions. The encoded protein functions in microtubule organization, particularly in the formation and maintanance of cilia. Mutations in this gene cause Alstrom syndrome. There is a pseudogene for this gene located adjacent in the same region of chromosome 2. Alternative splice variants have been described but their full length nature has not been determined. [provided by RefSeq, Apr 2014]
Associated Conditions (28)
Alstrom syndrome
Cardiovascular phenotype
Monogenic diabetes
ALMS1-related disorder
Retinal dystrophy
Intellectual disability
Monogenic hearing loss
Early onset severe obesity
Hearing impairment
Adrenocortical carcinoma
hereditary
Familial cancer of breast
Hepatocellular carcinoma
Lymphoma
Glioma susceptibility 1
Retinitis pigmentosa
Bardet-Biedl syndrome
Leber congenital amaurosis
See cases
Cone-rod dystrophy
+8 more conditions
Key Variants
RS1017054461
Conflicting classifications of pathogenicity
Alstrom syndrome, Cardiovascular phenotype, Alstrom syndrome
Health Risk
RS1019805272
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Alstrom syndrome, Cardiovascular phenotype
Health Risk
RS1020163869
Conflicting classifications of pathogenicity
Alstrom syndrome, Cardiovascular phenotype, Alstrom syndrome
Health Risk
RS1021572525
Conflicting classifications of pathogenicity
Alstrom syndrome, Cardiovascular phenotype, Alstrom syndrome
Health Risk
RS1023974968
Conflicting classifications of pathogenicity
Alstrom syndrome, Cardiovascular phenotype, Alstrom syndrome
Health Risk
RS1042904406
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Alstrom syndrome, Cardiovascular phenotype
Health Risk
RS1043429291
Conflicting classifications of pathogenicity
Alstrom syndrome, Cardiovascular phenotype, Alstrom syndrome
Health Risk
RS1047348249
Conflicting classifications of pathogenicity
Alstrom syndrome, Cardiovascular phenotype, Alstrom syndrome
Health Risk
RS1057524883
Conflicting classifications of pathogenicity
Monogenic diabetes, Cardiovascular phenotype, Monogenic diabetes
Health Risk
RS1057524885
Conflicting classifications of pathogenicity
Monogenic diabetes, Cardiovascular phenotype, Alstrom syndrome
Health Risk
RS1131691296
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Alstrom syndrome, Cardiovascular phenotype
Health Risk
RS1177908281
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Alstrom syndrome, Cardiovascular phenotype
Health Risk
All Variants (1249)
RSID Category Clinical Significance Conditions
RS3813227 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype, Alstrom syndrome
RS45447596 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype, Alstrom syndrome
RS45486496 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype, Alstrom syndrome
RS45493191 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype, Alstrom syndrome
RS45501594 Health Risk Conflicting classifications of pathogenicity Monogenic diabetes, Alstrom syndrome, Cardiovascular phenotype
RS45596541 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype, Alstrom syndrome
RS528863432 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype, Alstrom syndrome
RS529506570 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype, Alstrom syndrome
RS530083993 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Alstrom syndrome, Cardiovascular phenotype
RS530508947 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Alstrom syndrome
RS531648685 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype, Alstrom syndrome
RS531859344 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype, Alstrom syndrome
RS538743256 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype, ALMS1-related disorder
RS541576664 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype, Alstrom syndrome
RS543346172 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Alstrom syndrome, Cardiovascular phenotype
RS543597396 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS548882067 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype, Alstrom syndrome
RS549156484 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype, Alstrom syndrome
RS549259627 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype, Alstrom syndrome
RS549757247 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype, Alstrom syndrome
RS552496175 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype, Alstrom syndrome
RS553406974 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype, Monogenic diabetes
RS553507775 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Hearing impairment, Cardiovascular phenotype
RS553786370 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype, Alstrom syndrome
RS555547573 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype, Alstrom syndrome
RS55889738 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Alstrom syndrome, ALMS1-related disorder
RS563989825 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype, Alstrom syndrome
RS564400636 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype, Alstrom syndrome
RS565214018 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype, Alstrom syndrome
RS565373304 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype, Alstrom syndrome
RS570835896 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype, Alstrom syndrome
RS571389435 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype, ALMS1-related disorder
RS571456553 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Alstrom syndrome
RS572605877 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype, Alstrom syndrome
RS573748379 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Alstrom syndrome, Cardiovascular phenotype
RS574785830 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype, Alstrom syndrome
RS575305602 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype, Alstrom syndrome
RS575644902 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype, Alstrom syndrome
RS58093963 Health Risk Conflicting classifications of pathogenicity Monogenic diabetes, Alstrom syndrome, Cardiovascular phenotype
RS58806616 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Monogenic diabetes, Cardiovascular phenotype
RS73945001 Health Risk Conflicting classifications of pathogenicity Monogenic diabetes, Alstrom syndrome, Cardiovascular phenotype
RS745322502 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype, Alstrom syndrome
RS745518051 Health Risk Conflicting classifications of pathogenicity Monogenic diabetes, Alstrom syndrome, Monogenic diabetes
RS746145270 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype, Alstrom syndrome
RS746166271 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype, Alstrom syndrome
RS746702722 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype, Alstrom syndrome
RS746896173 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype, ALMS1-related disorder
RS747504060 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype, Alstrom syndrome
RS748153319 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype, Alstrom syndrome
RS748234485 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Alstrom syndrome, Cardiovascular phenotype
« Prev 1 ... 3 4 5 6 7 8 9 ... 25 Next »
Sign Up to Analyze Your DNA Log In