Table 5.
Mutations in the Same Gene Loci With the Uncommon Variants Causing Related Phenotypic Effects, as Found in the Online Mendelian Inheritance in Man Database
| Reported Gene(s) | Region | Uncommon Variant(s) | Disease/Trait | Mutations With the Same or Related Phenotypic Effects | Phenotypic Effects of Mutations |
| OCA2 | 15q13.1 | rs1667394-A | Blue vs. green eyes | 2.7-kb del, ex7del | Oculocutaneous albinism type 2 |
| IVS17DS, G-T, +1 | |||||
| Pro743Leu | |||||
| 1-bp del | |||||
| Ala334Val | |||||
| 122.5-kb del | |||||
| Trp679Cys | |||||
| Asn489Asp | |||||
| Met394Ile | |||||
| TNFSF11 | 13q14 | rs6561055-A, rs17639156-G | BMD | 5-bp del, IVS7+4 | Osteopetrosis, autosomal recessive type 2 |
| Met199Lys | |||||
| 2-bp del, 828CG | |||||
| NOD2 | 16q12.1 | rs2066844-T, rs2066845-C, rs2066847-C | Crohn's disease | 3020insC | Crohn's disease |
| Gly881Arg | |||||
| Arg675Trp | |||||
| IVS8+158 | |||||
| MC1R | 16q24.3 | rs1805007-T | Freckles | 3-bp del 439TTC | UV-induced skin damage |
| Thr157Ile | |||||
| Pro159Thr | |||||
| HNF4A | 20q13.12 | rs1800961-C | HDL cholesterol | Gln268Ter | Maturity-onset diabetes of the young, type 1 |
| Arg154Ter | |||||
| Arg127Trp | |||||
| 1-bp del Phe75T | |||||
| IVS5, Del A, -2 | |||||
| Met364Arg | |||||
| Val393Ile | Type 2 Diabetes | ||||
| ABCA1 | 9q31.1 | rs9282541-T | HDL cholesterol | Cys1417Arg | Tangier disease (HDL deficiency type 1) |
| IVS24DS, G-C | |||||
| Gln537Arg | |||||
| 110-bp in/14-bp del | |||||
| 2-bp del, 3283TC | |||||
| 1-bp del, 2665C | |||||
| Ser1446Leu | |||||
| int12-14 del, int16-31 del | |||||
| Arg1680Trp | |||||
| Asp1229Asn | |||||
| Arg2021Trp | |||||
| 1-bp del, 1764G | |||||
| Asn875Ser | |||||
| Ala877Val | |||||
| Trp530Ser | |||||
| 1-bp del, 1764G | |||||
| Tyr573Ter | |||||
| 3-bp del | HDL deficiency type 2 | ||||
| HFE | 6p22 | rs1800562-A | Hematocrit, Hemoglobin, MCV | Cys282Tyr | Hemochromatosis |
| His63Asp | |||||
| Arg330Met | |||||
| Gln283Pro | |||||
| PCSK9 | 1p32.3 | rs11591147-G | LDL cholesterol | Asp374Tyr | Familial hypercholesterolemia, type 3 |
| Tyr142Ter | LDL cholesterol level quantitative trait locus 1 | ||||
| Cys679Ter | |||||
| 3-bp del 290_292delGCC | |||||
| HLA-C | 6p21.33 | rs2395029-C | Psoriasis | HLA-C, HLA-Cw6 allele | Psoriasis |
| MATP | 5p13.3 | rs35391-T | Tanning | IVS2, G-A, -1 | Oculocutaneous albinism type 4 |
| 1-bp del, 986C | |||||
| 3-bp del | |||||
| Ala486Val | |||||
| Asp157Asn | |||||
| 1-bp del, 1121T | |||||
| APOA1, APOC3, APOA4, APOA5 | 11q23.3 | rs662799-G, rs10892151-A | Triglycerides | Gln84Ter (APOA1/APOC3) | Apolipoprotein A-I deficiency |
| Val156Glu (APOA1/APOC3) | |||||
| Gln-2Ter (APOA1/APOC3) | Analphalipoproteinemia | ||||
| 1-bp ins (APOA1/APOC3) | Primary hypoalphalipoproteinemia | ||||
| Gln32Ter (APOA1/APOC3) | Periorbital xanthelasma | ||||
| Gln139Ter (APOA5) | Hyperlipoproteinemia type 4 |
Abbreviations: BMD, bone mineral density; HDL, high density lipoprotein; kb, kilobase(s); LDL, low density lipoprotein; MCV, mean corpuscular volume; SNP, single-nucleotide polymorphism; UV, ultraviolet.