NM_005912.3(MC4R):c.466C>T (p.Gln156Ter)Pathogenic
not provided|Obesity|Monogenic diabetes|BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20|MC4R-related disorder
★★☆☆2026→ Residue 156
NM_005912.2(MC4R):c.105C>A (p.Tyr35Ter)Pathogenic
Obesity|Schizophrenia|not provided|BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20|Obesity due to melanocortin 4 receptor deficiency|See cases
★★☆☆2026→ Residue 35
NM_005912.3(MC4R):c.494G>A (p.Arg165Gln)Pathogenic
Obesity|BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20|not provided|Obesity due to melanocortin 4 receptor deficiency|Early onset severe obesity|MC4R-related disorder
★★☆☆2025→ Residue 165
NM_005912.3(MC4R):c.493C>T (p.Arg165Trp)Pathogenic
not provided|BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20|MC4R-related disorder|Obesity due to melanocortin 4 receptor deficiency|Early onset severe obesity
★★☆☆2025→ Residue 165
NM_005912.3(MC4R):c.181G>A (p.Glu61Lys)Pathogenic
Obesity, autosomal dominant|not provided|Obesity|BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20|MC4R-related disorder|Obesity due to melanocortin 4 receptor deficiency|Early onset severe obesity
★★☆☆2025→ Residue 61
NM_005912.3(MC4R):c.811T>C (p.Cys271Arg)Pathogenic
not provided|BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20|MC4R-related disorder|Early onset severe obesity
★★☆☆2025→ Residue 271
NM_005912.3(MC4R):c.812G>A (p.Cys271Tyr)Pathogenic
Obesity|BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20|Obesity due to melanocortin 4 receptor deficiency|MC4R-related disorder|not provided|Early onset severe obesity
★★☆☆2025→ Residue 271
NM_005912.3(MC4R):c.171del (p.Ser58fs)Pathogenic
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20|not provided
★★☆☆2025→ Residue 58
NM_005912.3(MC4R):c.418del (p.Leu140fs)Pathogenic
not provided|MC4R-related disorder|Obesity due to melanocortin 4 receptor deficiency
★★☆☆2025→ Residue 140
NM_005912.3(MC4R):c.240C>A (p.Tyr80Ter)Pathogenic
not provided|MC4R-related disorder
★★☆☆2025→ Residue 80
NM_005912.3(MC4R):c.346_347del (p.Ser116fs)Pathogenic
Obesity due to melanocortin 4 receptor deficiency|not provided
★★☆☆2024→ Residue 116
NM_005912.3(MC4R):c.835_836dup (p.Phe280fs)Pathogenic
Obesity|not provided|Obesity due to melanocortin 4 receptor deficiency|BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20|MC4R-related disorder
★★☆☆2024→ Residue 280
NM_005912.3(MC4R):c.750_751del (p.Ile251fs)Pathogenic
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20|Obesity, autosomal dominant|Obesity|not provided|MC4R-related disorder|Early onset severe obesity
★★☆☆2023→ Residue 251
NM_005912.3(MC4R):c.902T>C (p.Ile301Thr)Pathogenic
not provided|MC4R-related disorder
★★☆☆2023→ Residue 301
NM_005912.3(MC4R):c.542G>A (p.Gly181Asp)Pathogenic
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
★★☆☆2022→ Residue 181
NM_005912.3(MC4R):c.947T>G (p.Ile316Ser)Pathogenic
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20|Obesity|Obesity due to melanocortin 4 receptor deficiency
★★☆☆2022→ Residue 316
NM_005912.3(MC4R):c.268G>A (p.Asp90Asn)Pathogenic
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20|MC4R-related disorder
★★☆☆2022→ Residue 90
NM_005912.3(MC4R):c.823C>T (p.Pro275Ser)Pathogenic
Inherited obesity
★☆☆☆2025→ Residue 275
NM_005912.3(MC4R):c.828T>A (p.Tyr276Ter)Likely pathogenic
Early onset severe obesity
★☆☆☆2025→ Residue 276
NM_005912.3(MC4R):c.828_829del (p.Tyr276_Cys277delinsTer)Pathogenic
Early onset severe obesity
★☆☆☆2025→ Residue 276