| Gene |
Chromosome |
Location |
Syndrome |
Category |
| RAB23 | 6 | p11 | Carpenter Syndrome | Autism spectrum | |
| RAB39B | 23 | q28 | Waisman syndrome | Autism spectrum | |
| RABGAP1L | 1 | q25.1 | Autism 18 (AUTS18) | Autism spectrum | |
| RAD21 | 8 | q24 | Cornelia de Lange Syndrome | Autism spectrum | |
| RAD21 | 8 | q24.11 | Microcephaly - other | Microcephaly | |
| RAD51C | 17 | q22 | Microcephaly - other | Microcephaly | |
| RAF1 | 3 | p25.2 | Noonan syndrome | Autism spectrum | |
| RAG1 | 11 | p12 | Omenn syndrome | Alopecia | |
| RAG2 | 11 | p12 | Omenn syndrome | Alopecia | |
| RAI1 | 17 | p11.2 | Circadian rhythm disruption | Sleep disorders | |
| RAI1 | 17 | p11.2 | Smith-Magenis syndrome | Autism spectrum | |
| RAI1 | 17 | p11.2 | Potocki-Lupski syndrome | Autism spectrum | |
| RANBP2 | 2 | q13 | Acute necrotizing encephalopathy type 1 | Encephalitis | |
| RAPGEF1 | 9 | q34.13 | Cerebral palsy - unassigned | Cerebral palsy | |
| RAPGEF4 | 2 | q31.1 | LESCH-NYHAN SYNDROME | Autism spectrum | |
| RAPSN | 11 | p11.2 | Arthrogryposis - other | Arthrogryposis spectrum | |
| RAPSN | 11 | p11.2 | Microcephaly - other | Microcephaly | |
| RARA | 17 | q21.2 | Acute lymphoblastic leukemia | Leukemia | |
| RARB | 3 | p24.2 | Thyroid disorders | Hypothyroidism | |
| RARS2 | 6 | q16.1 | Pontocerebellar hypoplasia | Microcephaly | |
| RASA2 | 3 | q23 | Noonan syndrome | Autism spectrum | |
| RASGRP1 | 15 | q14 | Rheumatoid arthritis | Arthritis | |
| RAX | 18 | q21.32 | Microphthalmia syndromic 6 (MCOPS6) | Microphthalmia | |
| RBFOX1 | 16 | p13.3 | RNA-BINDING PROTEIN FOX1 | Autism spectrum | |
| RBM28 | 7 | q32.1 | Alopecia progressive neurological defects and endocrinopathy (ANE syndrome) | Alopecia | |
| RBPJ | 4 | p15.2 | Rheumatoid arthritis | Arthritis | |
| RCAN1 | 21 | q22.12 | Rheumatoid arthritis | Arthritis | |
| RCAN1 | 21 | q22.12 | Alzheimer - late onset | Alzheimer Syndrome | |
| RD3 | 1 | q32.3 | Leber congenital amaurosis | Photophobia - sensitivity to light | |
| RDH12 | 14 | q24.1 | Leber congenital amaurosis | Photophobia - sensitivity to light | |
| RECQL4 | 8 | q24.3 | Rothmund-Thomson syndrome | Cataracts | |
| REL | 2 | p16.1 | Rheumatoid arthritis | Arthritis | |
| REL | 2 | p16.1 | Ulcerative colitis | Irritable Bowel Disorders | |
| RELN | 7 | q22 | Lissencephaly with cerebellar hypoplasia (LCH) | Autism spectrum | |
| RENS1 | 23 | p11.23 | RENPENNING SYNDROME 1 | Autism spectrum | |
| RERE | 1 | p36.23 | Neurodevelopmental disorder with or without anomalies of the brain eye heart | Autism spectrum | |
| RET | 10 | q11.21 | Thyroid disorders | Hypothyroidism | |
| RETN | 19 | p13.2 | Type 2 Diabetes | Diabetes | |
| RFN139 | 8 | q24.13 | Thyroid disorders | Hypothyroidism | |
| RFX5 | 1 | q21.3 | ALS | ALS - amyotrophic lateral sclerosis | |
| RFX6 | 6 | q22.1 | Mitchell-Riley syndrome | Diabetes | |
| RIMS1 | 6 | q13 | Cone-rod dystrophy 7 | Autism spectrum | |
| RIN2 | 20 | p11.23 | Macrocephaly with alopecia and cutis laxa and scoliosis (MACS syndrome) | Alopecia | |
| RIT1 | 1 | q22 | Noonan syndrome | Autism spectrum | |
| RMRP | 9 | p13.3 | Gluten allergy | Gluten intolerance | |
| RNASEH1 | 2 | p25.3 | Progressive external ophthalmoplegia | Ataxia spectrum | |
| RNASEH2A | 19 | p13.13 | Microcephaly - other | Microcephaly | |
| RNASEH2A | 19 | p13.2 | Aicardi-Goutieres Syndrome | Autism spectrum | |
| RNASEH2B | 13 | q14.3 | Microcephaly - other | Microcephaly | |
| RNASEH2B | 13 | q14.3 | Aicardi-Goutieres Syndrome | Autism spectrum | |
| RNASEH2C | 11 | q13.1 | Microcephaly - other | Microcephaly | |
| RNASEH2C | 11 | q13.1 | Aicardi-Goutieres Syndrome | Autism spectrum | |
| RNASET2 | 6 | q27 | Microcephaly - other | Microcephaly | |
| RNF135 | 17 | q11.2 | RING FINGER PROTEIN 135 | Autism spectrum | |
| RNF170 | 8 | p11.21 | Ataxia sensory autosomal dominant type 01 | Ataxia spectrum | |
| RNF216 | 7 | p22.1 | Gordon Holmes syndrome | Ataxia spectrum | |
| ROBO3 | 11 | q24.2 | Horizontal gaze palsy with progressive scoliosis (HGPPS) | Cerebral palsy | |
| RORA | 15 | q22.2 | RAR-RELATED ORPHAN RECEPTOR A | Autism spectrum | |
| RPE65 | 1 | p31.3 | Leber congenital amaurosis | Photophobia - sensitivity to light | |
| RPGRIP1 | 14 | q11.2 | Leber congenital amaurosis | Photophobia - sensitivity to light | |
| RPL10 | 23 | q28 | Autism X-linked 5 (AUTSX5) | Autism spectrum | |
| RPL11 | 1 | p35-36.1 | Diamond-Blackfan anemia | Cleft lip / cleft palate | |
| RPL11 | 1 | p36.11 | Microcephaly - other | Microcephaly | |
| RPL35A | 3 | q29 | Microcephaly - other | Microcephaly | |
| RPL35A | 3 | q29 | Diamond-Blackfan anemia | Cleft lip / cleft palate | |
| RPL5 | 1 | p22.1 | Microcephaly - other | Microcephaly | |
| RPL5 | 1 | p22.1 | Diamond-Blackfan anemia | Cleft lip / cleft palate | |
| RPL7A | 9 | q34.2 | Thyroid disorders | Hypothyroidism | |
| RPS10 | 6 | p21.31 | Diamond-Blackfan anemia | Cleft lip / cleft palate | |
| RPS10 | 6 | p21.31 | Microcephaly - other | Microcephaly | |
| RPS17 | 15 | q21.3 | Diamond-Blackfan anemia | Cleft lip / cleft palate | |
| RPS17 | 15 | q25.2 | Microcephaly - other | Microcephaly | |
| RPS19 | 19 | q13.2 | Diamond-Blackfan anemia | Cleft lip / cleft palate | |
| RPS19 | 19 | q13.2 | Microcephaly - other | Microcephaly | |
| RPS24 | 10 | q22 | Diamond-Blackfan anemia | Cleft lip / cleft palate | |
| RPS24 | 10 | q22.3 | Microcephaly - other | Microcephaly | |
| RPS26 | 12 | q13.2 | Microcephaly - other | Microcephaly | |
| RPS26 | 12 | q13 | Diamond-Blackfan anemia | Cleft lip / cleft palate | |
| RPS6KA3 | 23 | p22.1-.2 | Coffin-Lowry syndrome | Microcephaly | |
| RPS7 | 2 | p25.3 | Microcephaly - other | Microcephaly | |
| RPS7 | 2 | p25 | Diamond-Blackfan anemia | Cleft lip / cleft palate | |
| RRAS | 19 | q13.33 | Noonan syndrome | Autism spectrum | |
| RRM2B | 8 | q22.3 | Microcephaly - other | Microcephaly | |
| RSTS1 | 16 | p13.3 | RUBINSTEIN-TAYBI SYNDROME 1 | Autism spectrum | |
| RSTS2 | 22 | q13.2 | RUBINSTEIN-TAYBI SYNDROME 2 | Autism spectrum | |
| RTN4IP1 | 6 | q21 | Optic atrophy with ataxia mental retardation and seizures type 10 | Ataxia spectrum | |
| RTT | 23 | q28 | Rett Syndrome | Autism spectrum | |
| RUBCN | 3 | q29 | Spinocerebellar ataxia autosomal recessive type 15 | Ataxia spectrum | |
| RUNX1 | 21 | q22.12 | Acute myeloid leukemia | Leukemia | |
| RUNX1 | 21 | q22.12 | Rheumatoid arthritis | Arthritis | |
| RUNX1T1 | 8 | q22 | Acute lymphoblastic leukemia | Leukemia | |
| RXYLT1 | 12 | q14.2 | Walker-Warburg syndrome | Microphthalmia | |
| RYR1 | 19 | q13.2 | Multiminicore disease | Arthrogryposis spectrum | |
| RYR2 | 1 | q43 | Catecholaminergic polymorphic ventricular tachycardia | Tachycardia (>100 beats/minute) | |
| RYR3 | 15 | q13.3 | Autism 18 (AUTS18) | Autism spectrum | |