ILDR1 Chromosome 3
Immunoglobulin like domain containing receptor 1
Upload your DNA to see your personal genotypes for variants in ILDR1.
What This Gene Does
This gene encodes a protein that contains an immunoglobulin-like domain. The encoded protein may function as a multimeric receptor at the cell surface. The expression of this gene may be a diagnostic marker for cancer progression. Alternatively spliced transcript variants encoding multiple protein isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]
Associated Conditions (11)
Autosomal recessive nonsyndromic hearing loss 42
Hearing impairment
Inborn genetic diseases
ILDR1-related disorder
Hearing loss
autosomal recessive
Nonsyndromic genetic hearing loss
Childhood onset hearing loss
Rare genetic deafness
Deafness
Congenital sensorineural hearing impairment
Key Variants
RS141450561
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 42, Autosomal recessive nonsyndromic hearing loss 42
Health Risk
RS141559449
Conflicting classifications of pathogenicity
Health Risk
RS142746163
Conflicting classifications of pathogenicity
Hearing impairment, Autosomal recessive nonsyndromic hearing loss 42, Hearing impairment
Health Risk
RS143072070
Conflicting classifications of pathogenicity
Inborn genetic diseases, ILDR1-related disorder, Inborn genetic diseases
Health Risk
RS150250182
Conflicting classifications of pathogenicity
Health Risk
RS182963279
Conflicting classifications of pathogenicity
Health Risk
RS186672543
Conflicting classifications of pathogenicity
ILDR1-related disorder, ILDR1-related disorder
Health Risk
RS200130100
Conflicting classifications of pathogenicity
Health Risk
RS201105694
Conflicting classifications of pathogenicity
Health Risk
RS369318229
Conflicting classifications of pathogenicity
Health Risk
RS372564314
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 42, Autosomal recessive nonsyndromic hearing loss 42
Health Risk
RS546168333
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 42, Autosomal recessive nonsyndromic hearing loss 42
Health Risk
All Variants (38)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS141450561 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 42, Autosomal recessive nonsyndromic hearing loss 42 |
| RS141559449 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS142746163 | Health Risk | Conflicting classifications of pathogenicity | Hearing impairment, Autosomal recessive nonsyndromic hearing loss 42, Hearing impairment |
| RS143072070 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, ILDR1-related disorder, Inborn genetic diseases |
| RS150250182 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS182963279 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS186672543 | Health Risk | Conflicting classifications of pathogenicity | ILDR1-related disorder, ILDR1-related disorder |
| RS200130100 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201105694 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS369318229 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS372564314 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 42, Autosomal recessive nonsyndromic hearing loss 42 |
| RS546168333 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 42, Autosomal recessive nonsyndromic hearing loss 42 |
| RS746732835 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS754492545 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 42, Autosomal recessive nonsyndromic hearing loss 42 |
| RS777709144 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 42, Autosomal recessive nonsyndromic hearing loss 42 |
| RS779600354 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2071390190 | Health Risk | Likely pathogenic | Hearing loss, autosomal recessive, Hearing loss |
| RS2472802944 | Health Risk | Likely pathogenic | Nonsyndromic genetic hearing loss, Nonsyndromic genetic hearing loss |
| RS2472827678 | Health Risk | Likely pathogenic | Nonsyndromic genetic hearing loss, Nonsyndromic genetic hearing loss |
| RS1194633608 | Health Risk | Pathogenic | — |
| RS1261932284 | Health Risk | Pathogenic | — |
| RS1280341996 | Health Risk | Pathogenic | — |
| RS1419827895 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 42, Autosomal recessive nonsyndromic hearing loss 42 |
| RS1559875009 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 42, Autosomal recessive nonsyndromic hearing loss 42 |
| RS2071591086 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 42, Autosomal recessive nonsyndromic hearing loss 42 |
| RS2071865513 | Health Risk | Pathogenic | Childhood onset hearing loss, Childhood onset hearing loss |
| RS2107644932 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 42, Autosomal recessive nonsyndromic hearing loss 42 |
| RS2472821036 | Health Risk | Pathogenic | — |
| RS387907015 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 42, Autosomal recessive nonsyndromic hearing loss 42 |
| RS387907017 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 42, Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 42 |
| RS752714222 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 42, Autosomal recessive nonsyndromic hearing loss 42 |
| RS1226171550 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 42, Hearing loss, autosomal recessive |
| RS1559870857 | Health Risk | Pathogenic/Likely pathogenic | Deafness, Hearing loss, autosomal recessive |
| RS387907016 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 42, Hearing loss, autosomal recessive |
| RS571007078 | Health Risk | Pathogenic/Likely pathogenic | Congenital sensorineural hearing impairment, Autosomal recessive nonsyndromic hearing loss 42, Congenital sensorineural hearing impairment |
| RS765136820 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS775062249 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 42, Hearing loss, autosomal recessive |
| RS920852517 | Health Risk | Pathogenic/Likely pathogenic | Childhood onset hearing loss, ILDR1-related disorder, Childhood onset hearing loss |