NM_005912.3(MC4R):c.631_634del (p.Leu211fs) |
microsatellite |
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV000015392] |
Chr18:60371716..60371719 [GRCh38] Chr18:58038949..58038952 [GRCh37] Chr18:18q21.32 |
pathogenic |
NM_005912.3(MC4R):c.732_735dup (p.Thr246fs) |
duplication |
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV000015393] |
Chr18:60371614..60371615 [GRCh38] Chr18:58038847..58038848 [GRCh37] Chr18:18q21.32 |
pathogenic |
MC4R, 1-BP INS, 112A |
insertion |
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV000015401] |
Chr18:18q22 |
pathogenic |
MC4R, 4-BP DEL, 211CTCT |
deletion |
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV000015402] |
Chr18:18q22 |
pathogenic |
MC4R, 2-BP INS, 279GT |
insertion |
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV000015403] |
Chr18:18q22 |
pathogenic |
NM_005912.3(MC4R):c.374_375inv (p.Ile125Lys) |
inversion |
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV000015404] |
Chr18:60371975..60371976 [GRCh38] Chr18:58039208..58039209 [GRCh37] Chr18:18q21.32 |
pathogenic |
NM_005912.3(MC4R):c.265_279del (p.Ala89_Val93del) |
deletion |
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV000015411] |
Chr18:60372071..60372085 [GRCh38] Chr18:58039304..58039318 [GRCh37] Chr18:18q21.32 |
pathogenic |
MC4R, 2-BP DEL, 750GA |
deletion |
Obesity [RCV000015413] |
Chr18:18q22 |
pathogenic |
NM_005912.3(MC4R):c.690del (p.Gly231fs) |
deletion |
not provided [RCV000521516] |
Chr18:60371660 [GRCh38] Chr18:58038893 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_005912.2(MC4R):c.105C>A (p.Tyr35Ter) |
single nucleotide variant |
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV002504792]|Obesity [RCV000015394]|Schizophrenia [RCV000202583]|not provided [RCV000255005] |
Chr18:60372245 [GRCh38] Chr18:58039478 [GRCh37] Chr18:18q21.32 |
pathogenic|uncertain significance |
NM_005912.2(MC4R):c.110A>T (p.Asp37Val) |
single nucleotide variant |
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV001262822]|Obesity [RCV000015395]|not provided [RCV001699179]|not specified [RCV000435394] |
Chr18:60372240 [GRCh38] Chr18:58039473 [GRCh37] Chr18:18q21.32 |
pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters|not provided |
NM_005912.3(MC4R):c.148G>A (p.Val50Met) |
single nucleotide variant |
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV000015396] |
Chr18:60372202 [GRCh38] Chr18:58039435 [GRCh37] Chr18:18q21.32 |
pathogenic |
NM_005912.3(MC4R):c.172A>T (p.Ser58Cys) |
single nucleotide variant |
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV000015397] |
Chr18:60372178 [GRCh38] Chr18:58039411 [GRCh37] Chr18:18q21.32 |
pathogenic |
NM_005912.3(MC4R):c.305T>G (p.Ile102Ser) |
single nucleotide variant |
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV000015398] |
Chr18:60372045 [GRCh38] Chr18:58039278 [GRCh37] Chr18:18q21.32 |
pathogenic |
NM_005912.3(MC4R):c.508A>G (p.Ile170Val) |
single nucleotide variant |
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV000015399] |
Chr18:60371842 [GRCh38] Chr18:58039075 [GRCh37] Chr18:18q21.32 |
pathogenic |
NM_005912.3(MC4R):c.821A>G (p.Asn274Ser) |
single nucleotide variant |
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV000015400]|Obesity [RCV001125885]|not provided [RCV001531447] |
Chr18:60371529 [GRCh38] Chr18:58038762 [GRCh37] Chr18:18q21.32 |
pathogenic|likely pathogenic|uncertain significance |
NM_005912.3(MC4R):c.812G>A (p.Cys271Tyr) |
single nucleotide variant |
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV000768578]|Obesity [RCV000015405] |
Chr18:60371538 [GRCh38] Chr18:58038771 [GRCh37] Chr18:18q21.32 |
pathogenic |
NM_005912.3(MC4R):c.523G>A (p.Ala175Thr) |
single nucleotide variant |
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV000768579]|Obesity [RCV000015406]|not provided [RCV002513063]|not specified [RCV002247343] |
Chr18:60371827 [GRCh38] Chr18:58039060 [GRCh37] Chr18:18q21.32 |
pathogenic|benign|uncertain significance |
NM_005912.3(MC4R):c.947T>G (p.Ile316Ser) |
single nucleotide variant |
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV000015407]|Obesity [RCV000778539] |
Chr18:60371403 [GRCh38] Chr18:58038636 [GRCh37] Chr18:18q21.32 |
pathogenic|likely pathogenic |
NM_005912.3(MC4R):c.861T>A (p.Tyr287Ter) |
single nucleotide variant |
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV000015408] |
Chr18:60371489 [GRCh38] Chr18:58038722 [GRCh37] Chr18:18q21.32 |
pathogenic |
NM_005912.3(MC4R):c.289A>G (p.Asn97Asp) |
single nucleotide variant |
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV000015409] |
Chr18:60372061 [GRCh38] Chr18:58039294 [GRCh37] Chr18:18q21.32 |
pathogenic |
NM_005912.3(MC4R):c.185A>G (p.Asn62Ser) |
single nucleotide variant |
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV000015410] |
Chr18:60372165 [GRCh38] Chr18:58039398 [GRCh37] Chr18:18q21.32 |
pathogenic |
NM_005912.3(MC4R):c.380C>T (p.Ser127Leu) |
single nucleotide variant |
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV000768580]|Obesity [RCV000015412]|not provided [RCV000414065] |
Chr18:60371970 [GRCh38] Chr18:58039203 [GRCh37] Chr18:18q21.32 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_005912.3(MC4R):c.656C>T (p.Ala219Val) |
single nucleotide variant |
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV000015414] |
Chr18:60371694 [GRCh38] Chr18:58038927 [GRCh37] Chr18:18q21.32 |
pathogenic |
NM_005912.3(MC4R):c.538T>C (p.Ser180Pro) |
single nucleotide variant |
Obesity [RCV000030155] |
Chr18:60371812 [GRCh38] Chr18:58039045 [GRCh37] Chr18:18q21.32 |
likely pathogenic |
NM_005912.3(MC4R):c.606C>A (p.Phe202Leu) |
single nucleotide variant |
Monogenic diabetes [RCV000445401]|Obesity [RCV000030156]|not provided [RCV000889153]|not specified [RCV000610107] |
Chr18:60371744 [GRCh38] Chr18:58038977 [GRCh37] Chr18:18q21.32 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_005912.3(MC4R):c.677T>C (p.Ile226Thr) |
single nucleotide variant |
Obesity [RCV000030157] |
Chr18:60371673 [GRCh38] Chr18:58038906 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_005912.3(MC4R):c.806T>A (p.Ile269Asn) |
single nucleotide variant |
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV002285259]|Obesity [RCV000030158]|not provided [RCV000906648]|not specified [RCV000499660] |
Chr18:60371544 [GRCh38] Chr18:58038777 [GRCh37] Chr18:18q21.32 |
pathogenic|likely pathogenic|benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_005912.3(MC4R):c.835_836dup (p.Phe280fs) |
microsatellite |
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV002496462]|Obesity [RCV000030159]|not provided [RCV002281046] |
Chr18:60371513..60371514 [GRCh38] Chr18:58038746..58038747 [GRCh37] Chr18:18q21.32 |
pathogenic|likely pathogenic |
NM_005912.3(MC4R):c.896C>A (p.Pro299His) |
single nucleotide variant |
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV001781324]|Obesity [RCV000030160]|not provided [RCV002281047] |
Chr18:60371454 [GRCh38] Chr18:58038687 [GRCh37] Chr18:18q21.32 |
pathogenic|likely pathogenic |
GRCh38/hg38 18q21.1-23(chr18:50068129-80252149)x3 |
copy number gain |
See cases [RCV000050989] |
Chr18:50068129..80252149 [GRCh38] Chr18:47594499..78010032 [GRCh37] Chr18:45848497..76111023 [NCBI36] Chr18:18q21.1-23 |
pathogenic |
GRCh38/hg38 18q21.31-23(chr18:56618038-80252149)x1 |
copy number loss |
See cases [RCV000051032] |
Chr18:56618038..80252149 [GRCh38] Chr18:54285269..78010032 [GRCh37] Chr18:52436267..76111023 [NCBI36] Chr18:18q21.31-23 |
pathogenic |
GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3 |
copy number gain |
See cases [RCV000051048] |
Chr18:148963..80252149 [GRCh38] Chr18:148963..78010032 [GRCh37] Chr18:138963..76111023 [NCBI36] Chr18:18p11.32-q23 |
pathogenic |
GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3 |
copy number gain |
See cases [RCV000052543] |
Chr18:20960320..80234429 [GRCh38] Chr18:18540281..77992312 [GRCh37] Chr18:16794279..76093303 [NCBI36] Chr18:18q11.1-23 |
pathogenic |
GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3 |
copy number gain |
See cases [RCV000052501] |
Chr18:53345..80209986 [GRCh38] Chr18:53345..77967869 [GRCh37] Chr18:43345..76068860 [NCBI36] Chr18:18p11.32-q23 |
pathogenic |
GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3 |
copy number gain |
See cases [RCV000052549] |
Chr18:20989762..80209986 [GRCh38] Chr18:18569723..77967869 [GRCh37] Chr18:16823721..76068860 [NCBI36] Chr18:18q11.1-23 |
pathogenic |
GRCh38/hg38 18p11.32-q23(chr18:148763-80252290)x3 |
copy number gain |
See cases [RCV000052507] |
Chr18:148763..80252290 [GRCh38] Chr18:148763..78010173 [GRCh37] Chr18:138763..76111164 [NCBI36] Chr18:18p11.32-q23 |
pathogenic |
GRCh38/hg38 18q12.1-22.1(chr18:29249202-65448117)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052563]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052563]|See cases [RCV000052563] |
Chr18:29249202..65448117 [GRCh38] Chr18:26829167..63115353 [GRCh37] Chr18:25083165..61266333 [NCBI36] Chr18:18q12.1-22.1 |
pathogenic |
GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3 |
copy number gain |
See cases [RCV000052514] |
Chr18:148963..80244381 [GRCh38] Chr18:148963..78002264 [GRCh37] Chr18:138963..76103255 [NCBI36] Chr18:18p11.32-q23 |
pathogenic |
GRCh38/hg38 18q21.2-23(chr18:53637007-80252149)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053869]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053869]|See cases [RCV000053869] |
Chr18:53637007..80252149 [GRCh38] Chr18:51163377..78010032 [GRCh37] Chr18:49417375..76111023 [NCBI36] Chr18:18q21.2-23 |
pathogenic |
GRCh38/hg38 18q21.31-23(chr18:56353040-80209986)x1 |
copy number loss |
See cases [RCV000053873] |
Chr18:56353040..80209986 [GRCh38] Chr18:54020271..77967869 [GRCh37] Chr18:52171269..76068860 [NCBI36] Chr18:18q21.31-23 |
pathogenic |
GRCh38/hg38 18q21.2-23(chr18:51605752-80252149)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053834]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053834]|See cases [RCV000053834] |
Chr18:51605752..80252149 [GRCh38] Chr18:49132122..78010032 [GRCh37] Chr18:47386120..76111023 [NCBI36] Chr18:18q21.2-23 |
pathogenic |
GRCh38/hg38 18q21.2-22.1(chr18:52156899-65408762)x1 |
copy number loss |
See cases [RCV000053836] |
Chr18:52156899..65408762 [GRCh38] Chr18:49683269..63075998 [GRCh37] Chr18:47937267..61226978 [NCBI36] Chr18:18q21.2-22.1 |
pathogenic |
NM_005912.3(MC4R):c.749T>A (p.Leu250Gln) |
single nucleotide variant |
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV001756121]|Monogenic diabetes [RCV000664153]|Obesity [RCV000709739] |
Chr18:60371601 [GRCh38] Chr18:58038834 [GRCh37] Chr18:18q21.32 |
pathogenic|likely pathogenic|uncertain significance |
NC_000018.9:g.57851097T>C |
single nucleotide variant |
antipsychotics response - Toxicity/ADR [RCV000211281] |
Chr18:60183864 [GRCh38] Chr18:57851097 [GRCh37] Chr18:18q21.32 |
drug response |
GRCh38/hg38 18q21.32-23(chr18:59567681-80252149)x1 |
copy number loss |
See cases [RCV000133689] |
Chr18:59567681..80252149 [GRCh38] Chr18:57234913..78010032 [GRCh37] Chr18:55385893..76111023 [NCBI36] Chr18:18q21.32-23 |
pathogenic |
GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3 |
copy number gain |
See cases [RCV000134110] |
Chr18:149089..80234391 [GRCh38] Chr18:149089..77992274 [GRCh37] Chr18:139089..76093265 [NCBI36] Chr18:18p11.32-q23 |
pathogenic |
GRCh38/hg38 18q21.2-23(chr18:51190429-80252149)x1 |
copy number loss |
See cases [RCV000135413] |
Chr18:51190429..80252149 [GRCh38] Chr18:48716799..78010032 [GRCh37] Chr18:46970797..76111023 [NCBI36] Chr18:18q21.2-23 |
pathogenic |
GRCh38/hg38 18q21.2-21.32(chr18:54857756-60590631)x1 |
copy number loss |
See cases [RCV000136501] |
Chr18:54857756..60590631 [GRCh38] Chr18:52524987..58257864 [GRCh37] Chr18:50675985..56408844 [NCBI36] Chr18:18q21.2-21.32 |
pathogenic |
GRCh38/hg38 18q12.2-22.1(chr18:38794728-65632804)x3 |
copy number gain |
See cases [RCV000136910] |
Chr18:38794728..65632804 [GRCh38] Chr18:36374692..63300040 [GRCh37] Chr18:34628690..61451020 [NCBI36] Chr18:18q12.2-22.1 |
pathogenic |
GRCh38/hg38 18q12.1-23(chr18:32123105-80252149)x3 |
copy number gain |
See cases [RCV000136890] |
Chr18:32123105..80252149 [GRCh38] Chr18:29703068..78010032 [GRCh37] Chr18:27957066..76111023 [NCBI36] Chr18:18q12.1-23 |
pathogenic |
GRCh38/hg38 18q21.2-23(chr18:53865057-80252149)x1 |
copy number loss |
See cases [RCV000136674] |
Chr18:53865057..80252149 [GRCh38] Chr18:51391427..78010032 [GRCh37] Chr18:49645425..76111023 [NCBI36] Chr18:18q21.2-23 |
pathogenic |
GRCh38/hg38 18q21.1-23(chr18:49199411-80254946)x3 |
copy number gain |
See cases [RCV000137342] |
Chr18:49199411..80254946 [GRCh38] Chr18:46725781..78012829 [GRCh37] Chr18:44979779..76113817 [NCBI36] Chr18:18q21.1-23 |
pathogenic |
GRCh38/hg38 18q21.2-23(chr18:55179364-80254946)x1 |
copy number loss |
See cases [RCV000137375] |
Chr18:55179364..80254946 [GRCh38] Chr18:52846595..78012829 [GRCh37] Chr18:50997593..76113817 [NCBI36] Chr18:18q21.2-23 |
pathogenic |
GRCh38/hg38 18q12.3-23(chr18:42651392-80254946)x3 |
copy number gain |
See cases [RCV000138034] |
Chr18:42651392..80254946 [GRCh38] Chr18:40231357..78012829 [GRCh37] Chr18:38485355..76113817 [NCBI36] Chr18:18q12.3-23 |
pathogenic |
GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3 |
copy number gain |
See cases [RCV000138656] |
Chr18:118760..80254946 [GRCh38] Chr18:118760..78012829 [GRCh37] Chr18:108760..76113817 [NCBI36] Chr18:18p11.32-q23 |
pathogenic|conflicting data from submitters |
GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3 |
copy number gain |
See cases [RCV000139397] |
Chr18:149089..80254936 [GRCh38] Chr18:149089..78012819 [GRCh37] Chr18:139089..76113807 [NCBI36] Chr18:18p11.32-q23 |
pathogenic |
GRCh38/hg38 18q21.2-23(chr18:52421052-80254946)x1 |
copy number loss |
See cases [RCV000139134] |
Chr18:52421052..80254946 [GRCh38] Chr18:49947422..78012829 [GRCh37] Chr18:48201420..76113817 [NCBI36] Chr18:18q21.2-23 |
pathogenic |
GRCh38/hg38 18q21.2-23(chr18:53959828-80254936)x3 |
copy number gain |
See cases [RCV000139496] |
Chr18:53959828..80254936 [GRCh38] Chr18:51486198..78012819 [GRCh37] Chr18:49740196..76113807 [NCBI36] Chr18:18q21.2-23 |
pathogenic |
GRCh38/hg38 18q21.32-23(chr18:59996934-80254946)x1 |
copy number loss |
See cases [RCV000139669] |
Chr18:59996934..80254946 [GRCh38] Chr18:57664166..78012829 [GRCh37] Chr18:55815146..76113817 [NCBI36] Chr18:18q21.32-23 |
pathogenic |
GRCh38/hg38 18q21.2-23(chr18:51167159-80256240)x1 |
copy number loss |
See cases [RCV000140925] |
Chr18:51167159..80256240 [GRCh38] Chr18:48693529..78014123 [GRCh37] Chr18:46947527..76115097 [NCBI36] Chr18:18q21.2-23 |
pathogenic |
GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3 |
copy number gain |
See cases [RCV000142244] |
Chr18:136227..80256240 [GRCh38] Chr18:136227..78014123 [GRCh37] Chr18:126227..76115097 [NCBI36] Chr18:18p11.32-q23 |
pathogenic |
GRCh38/hg38 18q12.3-23(chr18:40367455-80256240)x3 |
copy number gain |
See cases [RCV000142227] |
Chr18:40367455..80256240 [GRCh38] Chr18:37947419..78014123 [GRCh37] Chr18:36201417..76115097 [NCBI36] Chr18:18q12.3-23 |
pathogenic |
GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3 |
copy number gain |
See cases [RCV000143057] |
Chr18:20962119..74691446 [GRCh38] Chr18:18542080..72403402 [GRCh37] Chr18:16796078..70532390 [NCBI36] Chr18:18q11.1-22.3 |
pathogenic |
NM_005912.3(MC4R):c.751A>C (p.Ile251Leu) |
single nucleotide variant |
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV002500636]|Monogenic diabetes [RCV000445524]|Obesity [RCV000202590]|not provided [RCV000419291]|not specified [RCV000501342] |
Chr18:60371599 [GRCh38] Chr18:58038832 [GRCh37] Chr18:18q21.32 |
benign|likely benign|conflicting interpretations of pathogenicity|protective|uncertain significance |
NM_005912.3(MC4R):c.307G>A (p.Val103Ile) |
single nucleotide variant |
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV001778791]|MELANOCORTIN 4 RECEPTOR POLYMORPHISM [RCV000768671]|Monogenic diabetes [RCV000445452]|OBESITY, RESISTANCE TO [RCV000768672]|Obesity [RCV000202600]|not provided [RCV002057039]|not specified [RCV001699064] |
Chr18:60372043 [GRCh38] Chr18:58039276 [GRCh37] Chr18:18q21.32 |
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|protective |
GRCh38/hg38 18q21.32-22.3(chr18:59909593-72609801)x3 |
copy number gain |
See cases [RCV000143195] |
Chr18:59909593..72609801 [GRCh38] Chr18:57576825..70277036 [GRCh37] Chr18:55727805..68428016 [NCBI36] Chr18:18q21.32-22.3 |
likely pathogenic |
GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3 |
copy number gain |
See cases [RCV000143218] |
Chr18:136226..80256240 [GRCh38] Chr18:136226..78014123 [GRCh37] Chr18:126226..76115097 [NCBI36] Chr18:18p11.32-q23 |
pathogenic |
GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3 |
copy number gain |
See cases [RCV000148072] |
Chr18:148963..80252149 [GRCh38] Chr18:148963..78010032 [GRCh37] Chr18:138963..76111023 [NCBI36] Chr18:18p11.32-q23 |
pathogenic |
NM_005912.3(MC4R):c.972C>T (p.Gly324=) |
single nucleotide variant |
Obesity [RCV001124913]|not specified [RCV000192958] |
Chr18:60371378 [GRCh38] Chr18:58038611 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_005912.3(MC4R):c.206T>G (p.Ile69Arg) |
single nucleotide variant |
Obesity, autosomal dominant [RCV000194758] |
Chr18:60372144 [GRCh38] Chr18:58039377 [GRCh37] Chr18:18q21.32 |
pathogenic |
GRCh37/hg19 18p11.32-q23(chr18:163323-78005236)x3 |
copy number gain |
See cases [RCV000240130] |
Chr18:163323..78005236 [GRCh37] Chr18:18p11.32-q23 |
pathogenic |
NM_005912.3(MC4R):c.594C>T (p.Ile198=) |
single nucleotide variant |
Obesity [RCV000385624]|not provided [RCV000712269]|not specified [RCV000241630] |
Chr18:60371756 [GRCh38] Chr18:58038989 [GRCh37] Chr18:18q21.32 |
benign|likely benign |
GRCh37/hg19 18q21.32-22.2(chr18:58014591-68158862)x1 |
copy number loss |
See cases [RCV000240432] |
Chr18:58014591..68158862 [GRCh37] Chr18:18q21.32-22.2 |
pathogenic |
GRCh37/hg19 18q11.1-23(chr18:18548019-77954165)x3 |
copy number gain |
See cases [RCV000240476] |
Chr18:18548019..77954165 [GRCh37] Chr18:18q11.1-23 |
pathogenic |
NM_005912.3(MC4R):c.-386G>A |
single nucleotide variant |
Obesity [RCV000301442] |
Chr18:60372735 [GRCh38] Chr18:58039968 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_005912.3(MC4R):c.-60C>G |
single nucleotide variant |
Obesity [RCV000284094] |
Chr18:60372409 [GRCh38] Chr18:58039642 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_005912.3(MC4R):c.494G>A (p.Arg165Gln) |
single nucleotide variant |
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV002288974]|Obesity [RCV000332082] |
Chr18:60371856 [GRCh38] Chr18:58039089 [GRCh37] Chr18:18q21.32 |
pathogenic|likely pathogenic |
NM_005912.3(MC4R):c.-220G>A |
single nucleotide variant |
Obesity [RCV000354941] |
Chr18:60372569 [GRCh38] Chr18:58039802 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_005912.3(MC4R):c.776C>T (p.Ala259Val) |
single nucleotide variant |
Obesity [RCV000261976] |
Chr18:60371574 [GRCh38] Chr18:58038807 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_005912.3(MC4R):c.-178A>C |
single nucleotide variant |
Obesity [RCV000304907] |
Chr18:60372527 [GRCh38] Chr18:58039760 [GRCh37] Chr18:18q21.32 |
benign|likely benign |
NM_005912.3(MC4R):c.817C>T (p.Gln273Ter) |
single nucleotide variant |
not provided [RCV000519708] |
Chr18:60371533 [GRCh38] Chr18:58038766 [GRCh37] Chr18:18q21.32 |
likely pathogenic |
NM_005912.3(MC4R):c.-18T>C |
single nucleotide variant |
Obesity [RCV000347091] |
Chr18:60372367 [GRCh38] Chr18:58039600 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_005912.3(MC4R):c.890T>A (p.Ile297Asn) |
single nucleotide variant |
not specified [RCV000517999] |
Chr18:60371460 [GRCh38] Chr18:58038693 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_005912.3(MC4R):c.-375G>T |
single nucleotide variant |
Obesity [RCV000408193] |
Chr18:60372724 [GRCh38] Chr18:58039957 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_005912.3(MC4R):c.-161C>T |
single nucleotide variant |
Obesity [RCV000408208] |
Chr18:60372510 [GRCh38] Chr18:58039743 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_005912.3(MC4R):c.201G>A (p.Val67=) |
single nucleotide variant |
Obesity [RCV000287700] |
Chr18:60372149 [GRCh38] Chr18:58039382 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_005912.3(MC4R):c.-66C>T |
single nucleotide variant |
Obesity [RCV000339114] |
Chr18:60372415 [GRCh38] Chr18:58039648 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_005912.3(MC4R):c.485C>T (p.Thr162Ile) |
single nucleotide variant |
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV001027999]|not provided [RCV000596154] |
Chr18:60371865 [GRCh38] Chr18:58039098 [GRCh37] Chr18:18q21.32 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_005912.3(MC4R):c.161T>C (p.Leu54Pro) |
single nucleotide variant |
Obesity [RCV000582060] |
Chr18:60372189 [GRCh38] Chr18:58039422 [GRCh37] Chr18:18q21.32 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_005912.3(MC4R):c.880A>C (p.Asn294His) |
single nucleotide variant |
not specified [RCV000516897] |
Chr18:60371470 [GRCh38] Chr18:58038703 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_005912.3(MC4R):c.63_64del (p.Tyr21_Arg22delinsTer) |
deletion |
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV001783088]|Obesity [RCV000582390] |
Chr18:60372286..60372287 [GRCh38] Chr18:58039519..58039520 [GRCh37] Chr18:18q21.32 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_005912.3(MC4R):c.757G>A (p.Val253Ile) |
single nucleotide variant |
Obesity [RCV000582762]|not specified [RCV001821706] |
Chr18:60371593 [GRCh38] Chr18:58038826 [GRCh37] Chr18:18q21.32 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_005912.3(MC4R):c.838T>C (p.Phe280Leu) |
single nucleotide variant |
Obesity [RCV000582923] |
Chr18:60371512 [GRCh38] Chr18:58038745 [GRCh37] Chr18:18q21.32 |
pathogenic |
NM_005912.3(MC4R):c.914G>A (p.Arg305Gln) |
single nucleotide variant |
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV002477369]|Obesity [RCV000627689] |
Chr18:60371436 [GRCh38] Chr18:58038669 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_005912.3(MC4R):c.811T>C (p.Cys271Arg) |
single nucleotide variant |
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV001753845]|not provided [RCV000413435] |
Chr18:60371539 [GRCh38] Chr18:58038772 [GRCh37] Chr18:18q21.32 |
pathogenic|likely pathogenic |
GRCh37/hg19 18q21.31-22.3(chr18:55793243-68705548)x1 |
copy number loss |
See cases [RCV000449209] |
Chr18:55793243..68705548 [GRCh37] Chr18:18q21.31-22.3 |
pathogenic |
GRCh37/hg19 18q21.2-22.1(chr18:50739715-63705988)x1 |
copy number loss |
See cases [RCV000446087] |
Chr18:50739715..63705988 [GRCh37] Chr18:18q21.2-22.1 |
pathogenic |
GRCh37/hg19 18p11.32-q23(chr18:136226-78014123)x3 |
copy number gain |
See cases [RCV000446047] |
Chr18:136226..78014123 [GRCh37] Chr18:18p11.32-q23 |
pathogenic |
GRCh37/hg19 18p11.32-q23(chr18:163323-78005185)x3 |
copy number gain |
See cases [RCV000445851] |
Chr18:163323..78005185 [GRCh37] Chr18:18p11.32-q23 |
pathogenic |
GRCh37/hg19 18q21.2-23(chr18:50224898-78014123)x1 |
copy number loss |
See cases [RCV000510720] |
Chr18:50224898..78014123 [GRCh37] Chr18:18q21.2-23 |
likely pathogenic |
NM_005912.3(MC4R):c.281G>A (p.Ser94Asn) |
single nucleotide variant |
not provided [RCV000432683] |
Chr18:60372069 [GRCh38] Chr18:58039302 [GRCh37] Chr18:18q21.32 |
likely pathogenic |
GRCh37/hg19 18q21.2-23(chr18:53100584-78014123)x1 |
copy number loss |
See cases [RCV000445943] |
Chr18:53100584..78014123 [GRCh37] Chr18:18q21.2-23 |
pathogenic |
GRCh37/hg19 18q21.1-23(chr18:47656799-78014123)x1 |
copy number loss |
See cases [RCV000447931] |
Chr18:47656799..78014123 [GRCh37] Chr18:18q21.1-23 |
pathogenic |
GRCh37/hg19 18q21.2-23(chr18:52837852-77989426)x1 |
copy number loss |
See cases [RCV000448656] |
Chr18:52837852..77989426 [GRCh37] Chr18:18q21.2-23 |
pathogenic |
NC_000018.9:g.57882787C>A |
single nucleotide variant |
amisulpride response - Toxicity/ADR [RCV000211314]|aripiprazole response - Toxicity/ADR [RCV000211401]|clozapine response - Toxicity/ADR [RCV000211221]|haloperidol response - Toxicity/ADR [RCV000211305]|olanzapine response - Toxicity/ADR [RCV000211428]|paliperidone response - Toxicity/ADR [RCV000211214]|quetiapine response - Toxicity/ADR [RCV000211337]|risperidone response - Toxicity/ADR [RCV000211159]|ziprasidone response - Toxicity/ADR [RCV000211203] |
Chr18:60215554 [GRCh38] Chr18:57882787 [GRCh37] Chr18:18q21.32 |
drug response |
GRCh37/hg19 18q21.31-23(chr18:54462182-78014123)x1 |
copy number loss |
See cases [RCV000512059] |
Chr18:54462182..78014123 [GRCh37] Chr18:18q21.31-23 |
pathogenic |
GRCh37/hg19 18q12.2-23(chr18:33417216-78014123)x3 |
copy number gain |
See cases [RCV000512081] |
Chr18:33417216..78014123 [GRCh37] Chr18:18q12.2-23 |
pathogenic |
NM_005912.3(MC4R):c.449C>T (p.Thr150Ile) |
single nucleotide variant |
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV002481622]|Obesity [RCV000582643]|Obesity, autosomal dominant [RCV000503229]|not provided [RCV001378257] |
Chr18:60371901 [GRCh38] Chr18:58039134 [GRCh37] Chr18:18q21.32 |
pathogenic|likely pathogenic |
NM_005912.3(MC4R):c.181G>A (p.Glu61Lys) |
single nucleotide variant |
Obesity [RCV000583759]|Obesity, autosomal dominant [RCV000501559]|not provided [RCV000518806] |
Chr18:60372169 [GRCh38] Chr18:58039402 [GRCh37] Chr18:18q21.32 |
pathogenic|likely pathogenic |
GRCh37/hg19 18q21.1-23(chr18:47454437-78014123)x3 |
copy number gain |
See cases [RCV000510655] |
Chr18:47454437..78014123 [GRCh37] Chr18:18q21.1-23 |
pathogenic |
NM_005912.3(MC4R):c.239A>G (p.Tyr80Cys) |
single nucleotide variant |
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV002490836]|not provided [RCV001857128]|not specified [RCV000499779] |
Chr18:60372111 [GRCh38] Chr18:58039344 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_005912.3(MC4R):c.750_751del (p.Ile251fs) |
deletion |
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV000015413]|Obesity [RCV001249014]|Obesity, autosomal dominant [RCV000500812]|not provided [RCV002510907] |
Chr18:60371599..60371600 [GRCh38] Chr18:58038832..58038833 [GRCh37] Chr18:18q21.32 |
pathogenic|likely pathogenic |
NM_005912.3(MC4R):c.827A>G (p.Tyr276Cys) |
single nucleotide variant |
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV002476007]|not specified [RCV000503100] |
Chr18:60371523 [GRCh38] Chr18:58038756 [GRCh37] Chr18:18q21.32 |
uncertain significance |
GRCh37/hg19 18q21.1-23(chr18:43776770-78014123)x3 |
copy number gain |
See cases [RCV000511394] |
Chr18:43776770..78014123 [GRCh37] Chr18:18q21.1-23 |
pathogenic |
GRCh37/hg19 18q11.1-22.1(chr18:18521285-64495798)x3 |
copy number gain |
See cases [RCV000511734] |
Chr18:18521285..64495798 [GRCh37] Chr18:18q11.1-22.1 |
pathogenic |
GRCh37/hg19 18p11.21-q23(chr18:14869204-78014123)x3 |
copy number gain |
See cases [RCV000512030] |
Chr18:14869204..78014123 [GRCh37] Chr18:18p11.21-q23 |
pathogenic |
GRCh37/hg19 18q21.1-23(chr18:46177798-78014123)x1 |
copy number loss |
See cases [RCV000511759] |
Chr18:46177798..78014123 [GRCh37] Chr18:18q21.1-23 |
pathogenic |
GRCh37/hg19 18q12.3-23(chr18:42930373-78014123)x3 |
copy number gain |
See cases [RCV000511203] |
Chr18:42930373..78014123 [GRCh37] Chr18:18q12.3-23 |
pathogenic |
GRCh37/hg19 18p11.32-q23(chr18:136227-78014123) |
copy number gain |
See cases [RCV000511189] |
Chr18:136227..78014123 [GRCh37] Chr18:18p11.32-q23 |
pathogenic |
Single allele |
deletion |
Deletion of long arm of chromosome 18 [RCV000768454] |
Chr18:58024137..77996821 [GRCh37] Chr18:18q21.32-23 |
pathogenic |
GRCh37/hg19 18q12.1-23(chr18:31879854-78014123)x3 |
copy number gain |
See cases [RCV000512425] |
Chr18:31879854..78014123 [GRCh37] Chr18:18q12.1-23 |
pathogenic |
NM_005912.3(MC4R):c.883T>C (p.Ser295Pro) |
single nucleotide variant |
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV002499143]|Monogenic diabetes [RCV000664152] |
Chr18:60371467 [GRCh38] Chr18:58038700 [GRCh37] Chr18:18q21.32 |
uncertain significance |
GRCh37/hg19 18q21.31-22.3(chr18:55083032-72743857)x1 |
copy number loss |
not provided [RCV000684056] |
Chr18:55083032..72743857 [GRCh37] Chr18:18q21.31-22.3 |
pathogenic |
GRCh37/hg19 18q21.32-23(chr18:56905884-78014123)x1 |
copy number loss |
not provided [RCV000684058] |
Chr18:56905884..78014123 [GRCh37] Chr18:18q21.32-23 |
pathogenic |
GRCh37/hg19 18q21.31-23(chr18:55298900-78014123)x1 |
copy number loss |
not provided [RCV000684059] |
Chr18:55298900..78014123 [GRCh37] Chr18:18q21.31-23 |
pathogenic |
GRCh37/hg19 18q21.1-23(chr18:46942427-78014123)x1 |
copy number loss |
not provided [RCV000684060] |
Chr18:46942427..78014123 [GRCh37] Chr18:18q21.1-23 |
pathogenic |
NM_005912.3(MC4R):c.466C>T (p.Gln156Ter) |
single nucleotide variant |
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV001262853]|Monogenic diabetes [RCV000754806]|Obesity [RCV000709738]|not provided [RCV000681814] |
Chr18:60371884 [GRCh38] Chr18:58039117 [GRCh37] Chr18:18q21.32 |
pathogenic|likely pathogenic |
NM_005912.3(MC4R):c.983T>A (p.Leu328Ter) |
single nucleotide variant |
not provided [RCV000712271] |
Chr18:60371367 [GRCh38] Chr18:58038600 [GRCh37] Chr18:18q21.32 |
pathogenic |
NM_005912.3(MC4R):c.495G>A (p.Arg165=) |
single nucleotide variant |
not provided [RCV000712268] |
Chr18:60371855 [GRCh38] Chr18:58039088 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_005912.3(MC4R):c.913C>T (p.Arg305Trp) |
single nucleotide variant |
Obesity [RCV001249094]|not provided [RCV000712270] |
Chr18:60371437 [GRCh38] Chr18:58038670 [GRCh37] Chr18:18q21.32 |
pathogenic|likely pathogenic|uncertain significance |
GRCh37/hg19 18q21.2-21.33(chr18:51036415-59275480)x1 |
copy number loss |
not provided [RCV000739822] |
Chr18:51036415..59275480 [GRCh37] Chr18:18q21.2-21.33 |
pathogenic |
GRCh37/hg19 18q21.2-23(chr18:52802515-78015180)x1 |
copy number loss |
not provided [RCV000739824] |
Chr18:52802515..78015180 [GRCh37] Chr18:18q21.2-23 |
pathogenic |
GRCh37/hg19 18p11.32-q23(chr18:12842-78015180)x3 |
copy number gain |
not provided [RCV000752245] |
Chr18:12842..78015180 [GRCh37] Chr18:18p11.32-q23 |
pathogenic |
GRCh37/hg19 18p11.32-q23(chr18:13034-78015180)x3 |
copy number gain |
not provided [RCV000752246] |
Chr18:13034..78015180 [GRCh37] Chr18:18p11.32-q23 |
pathogenic |
GRCh37/hg19 18q21.32-22.1(chr18:57244903-63722436)x1 |
copy number loss |
not provided [RCV000752355] |
Chr18:57244903..63722436 [GRCh37] Chr18:18q21.32-22.1 |
benign |
GRCh37/hg19 18q21.32-23(chr18:57244903-77325446)x1 |
copy number loss |
not provided [RCV000752356] |
Chr18:57244903..77325446 [GRCh37] Chr18:18q21.32-23 |
pathogenic |
GRCh37/hg19 18q21.32(chr18:57629472-58135000)x3 |
copy number gain |
not provided [RCV000752358] |
Chr18:57629472..58135000 [GRCh37] Chr18:18q21.32 |
benign |
NM_005912.3(MC4R):c.335C>T (p.Thr112Met) |
single nucleotide variant |
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV002468091]|Obesity [RCV001122229]|not provided [RCV000884259] |
Chr18:60372015 [GRCh38] Chr18:58039248 [GRCh37] Chr18:18q21.32 |
likely benign|uncertain significance |
NM_005912.3(MC4R):c.368A>G (p.Asn123Ser) |
single nucleotide variant |
not provided [RCV000973582] |
Chr18:60371982 [GRCh38] Chr18:58039215 [GRCh37] Chr18:18q21.32 |
likely benign |
NM_005912.3(MC4R):c.496G>A (p.Val166Ile) |
single nucleotide variant |
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV001536081]|Obesity [RCV000755003] |
Chr18:60371854 [GRCh38] Chr18:58039087 [GRCh37] Chr18:18q21.32 |
pathogenic |
GRCh37/hg19 18q21.31-23(chr18:55458425-78014123)x1 |
copy number loss |
not provided [RCV001007017] |
Chr18:55458425..78014123 [GRCh37] Chr18:18q21.31-23 |
pathogenic |
GRCh37/hg19 18q21.32(chr18:57940764-58095560)x1 |
copy number loss |
See cases [RCV000790578] |
Chr18:57940764..58095560 [GRCh37] Chr18:18q21.32 |
pathogenic |
MC4R, VAL103ILE (rs2229616) |
single nucleotide variant |
MELANOCORTIN 4 RECEPTOR POLYMORPHISM [RCV000768671]|OBESITY, RESISTANCE TO [RCV000768672] |
Chr18:18q21.32 |
benign|protective |
NM_005912.3(MC4R):c.474T>C (p.His158=) |
single nucleotide variant |
not provided [RCV000920475] |
Chr18:60371876 [GRCh38] Chr18:58039109 [GRCh37] Chr18:18q21.32 |
likely benign |
GRCh37/hg19 18q21.2-23(chr18:49460596-78014123)x1 |
copy number loss |
not provided [RCV001007016] |
Chr18:49460596..78014123 [GRCh37] Chr18:18q21.2-23 |
pathogenic |
GRCh37/hg19 18q21.32-23(chr18:56750525-78014123)x1 |
copy number loss |
not provided [RCV001007018] |
Chr18:56750525..78014123 [GRCh37] Chr18:18q21.32-23 |
pathogenic |
GRCh37/hg19 18q21.1-21.33(chr18:45621155-61416536)x3 |
copy number gain |
not provided [RCV000847118] |
Chr18:45621155..61416536 [GRCh37] Chr18:18q21.1-21.33 |
pathogenic |
NM_005912.3(MC4R):c.-176A>G |
single nucleotide variant |
Obesity [RCV001125007] |
Chr18:60372525 [GRCh38] Chr18:58039758 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_005912.3(MC4R):c.373A>G (p.Ile125Val) |
single nucleotide variant |
Obesity [RCV001127994] |
Chr18:60371977 [GRCh38] Chr18:58039210 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_005912.3(MC4R):c.929G>A (p.Arg310Lys) |
single nucleotide variant |
Obesity [RCV001125883] |
Chr18:60371421 [GRCh38] Chr18:58038654 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_005912.3(MC4R):c.836G>A (p.Cys279Tyr) |
single nucleotide variant |
Obesity [RCV001125884] |
Chr18:60371514 [GRCh38] Chr18:58038747 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_005912.3(MC4R):c.655G>T (p.Ala219Ser) |
single nucleotide variant |
Obesity [RCV001125887] |
Chr18:60371695 [GRCh38] Chr18:58038928 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_005912.3(MC4R):c.493C>T (p.Arg165Trp) |
single nucleotide variant |
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV001823788]|not provided [RCV001700559] |
Chr18:60371857 [GRCh38] Chr18:58039090 [GRCh37] Chr18:18q21.32 |
pathogenic|likely pathogenic |
NM_005912.3(MC4R):c.*252A>G |
single nucleotide variant |
not provided [RCV001530206] |
Chr18:60371099 [GRCh38] Chr18:58038332 [GRCh37] Chr18:18q21.32 |
benign |
GRCh37/hg19 18q21.31-23(chr18:54285235-77960815)x1 |
copy number loss |
not provided [RCV001531449] |
Chr18:54285235..77960815 [GRCh37] Chr18:18q21.31-23 |
pathogenic |
NM_005912.3(MC4R):c.837C>T (p.Cys279=) |
single nucleotide variant |
not provided [RCV000910088]|not specified [RCV001664546] |
Chr18:60371513 [GRCh38] Chr18:58038746 [GRCh37] Chr18:18q21.32 |
likely benign |
NM_005912.3(MC4R):c.468G>A (p.Gln156=) |
single nucleotide variant |
Obesity [RCV001127992]|not provided [RCV000926386] |
Chr18:60371882 [GRCh38] Chr18:58039115 [GRCh37] Chr18:18q21.32 |
benign|likely benign |
NM_005912.3(MC4R):c.21T>C (p.Arg7=) |
single nucleotide variant |
Obesity [RCV001122230] |
Chr18:60372329 [GRCh38] Chr18:58039562 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_005912.3(MC4R):c.534G>A (p.Thr178=) |
single nucleotide variant |
Obesity [RCV001127991] |
Chr18:60371816 [GRCh38] Chr18:58039049 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_005912.3(MC4R):c.949A>T (p.Ile317Phe) |
single nucleotide variant |
Obesity [RCV001124914] |
Chr18:60371401 [GRCh38] Chr18:58038634 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_005912.3(MC4R):c.31A>G (p.Thr11Ala) |
single nucleotide variant |
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV002483937]|Monogenic diabetes [RCV001174413] |
Chr18:60372319 [GRCh38] Chr18:58039552 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_005912.3(MC4R):c.915G>A (p.Arg305=) |
single nucleotide variant |
not provided [RCV000911329] |
Chr18:60371435 [GRCh38] Chr18:58038668 [GRCh37] Chr18:18q21.32 |
likely benign |
NM_005912.3(MC4R):c.272T>G (p.Met91Arg) |
single nucleotide variant |
Obesity [RCV002464552] |
Chr18:60372078 [GRCh38] Chr18:58039311 [GRCh37] Chr18:18q21.32 |
likely pathogenic |
NM_005912.3(MC4R):c.815C>G (p.Pro272Arg) |
single nucleotide variant |
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV002505703]|Obesity [RCV001125886] |
Chr18:60371535 [GRCh38] Chr18:58038768 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_005912.3(MC4R):c.719A>G (p.Asn240Ser) |
single nucleotide variant |
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV002497608]|Monogenic diabetes [RCV001174412]|not provided [RCV002559675] |
Chr18:60371631 [GRCh38] Chr18:58038864 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_005912.3(MC4R):c.14C>A (p.Thr5Asn) |
single nucleotide variant |
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV002483938]|Monogenic diabetes [RCV001174414] |
Chr18:60372336 [GRCh38] Chr18:58039569 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_005912.3(MC4R):c.645G>A (p.Met215Ile) |
single nucleotide variant |
Obesity [RCV001127990] |
Chr18:60371705 [GRCh38] Chr18:58038938 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_005912.3(MC4R):c.585C>G (p.Ile195Met) |
single nucleotide variant |
not specified [RCV001195614] |
Chr18:60371765 [GRCh38] Chr18:58038998 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_005912.3(MC4R):c.15C>T (p.Thr5=) |
single nucleotide variant |
Obesity [RCV001122231] |
Chr18:60372335 [GRCh38] Chr18:58039568 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_005912.3(MC4R):c.-59G>A |
single nucleotide variant |
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV002482226]|Obesity [RCV001122232] |
Chr18:60372408 [GRCh38] Chr18:58039641 [GRCh37] Chr18:18q21.32 |
uncertain significance |
GRCh37/hg19 18q11.2-23(chr18:23626739-78014976)x3 |
copy number gain |
not provided [RCV001537911] |
Chr18:23626739..78014976 [GRCh37] Chr18:18q11.2-23 |
pathogenic |
NM_005912.3(MC4R):c.902T>C (p.Ile301Thr) |
single nucleotide variant |
not provided [RCV001215751] |
Chr18:60371448 [GRCh38] Chr18:58038681 [GRCh37] Chr18:18q21.32 |
likely pathogenic |
NM_005912.3(MC4R):c.-121G>A |
single nucleotide variant |
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV002491390]|Obesity [RCV001125006] |
Chr18:60372470 [GRCh38] Chr18:58039703 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_005912.3(MC4R):c.-216C>T |
single nucleotide variant |
Obesity [RCV001125008] |
Chr18:60372565 [GRCh38] Chr18:58039798 [GRCh37] Chr18:18q21.32 |
benign |
NM_005912.3(MC4R):c.-263A>G |
single nucleotide variant |
Obesity [RCV001125989] |
Chr18:60372612 [GRCh38] Chr18:58039845 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_005912.3(MC4R):c.-295A>G |
single nucleotide variant |
Obesity [RCV001125990] |
Chr18:60372644 [GRCh38] Chr18:58039877 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_005912.3(MC4R):c.-359C>A |
single nucleotide variant |
Obesity [RCV001125991] |
Chr18:60372708 [GRCh38] Chr18:58039941 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_005912.3(MC4R):c.-360G>A |
single nucleotide variant |
Obesity [RCV001125992] |
Chr18:60372709 [GRCh38] Chr18:58039942 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_005912.3(MC4R):c.405A>C (p.Ala135=) |
single nucleotide variant |
Obesity [RCV001127993]|not specified [RCV001819835] |
Chr18:60371945 [GRCh38] Chr18:58039178 [GRCh37] Chr18:18q21.32 |
likely benign|uncertain significance |
NM_005912.3(MC4R):c.-64G>A |
single nucleotide variant |
Obesity [RCV001125005] |
Chr18:60372413 [GRCh38] Chr18:58039646 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_005912.3(MC4R):c.779C>A (p.Pro260Gln) |
single nucleotide variant |
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV001253485]|not provided [RCV001699526] |
Chr18:60371571 [GRCh38] Chr18:58038804 [GRCh37] Chr18:18q21.32 |
pathogenic|likely pathogenic |
NM_005912.3(MC4R):c.407C>T (p.Ser136Phe) |
single nucleotide variant |
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV001253372] |
Chr18:60371943 [GRCh38] Chr18:58039176 [GRCh37] Chr18:18q21.32 |
pathogenic |
NM_005912.3(MC4R):c.542G>A (p.Gly181Asp) |
single nucleotide variant |
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV001253592] |
Chr18:60371808 [GRCh38] Chr18:58039041 [GRCh37] Chr18:18q21.32 |
pathogenic|likely pathogenic |
GRCh37/hg19 18p11.32-q23(chr18:1-78077248) |
copy number gain |
Trisomy 18 [RCV002280660] |
Chr18:1..78077248 [GRCh37] Chr18:18p11.32-q23 |
pathogenic |
NM_005912.3(MC4R):c.691G>A (p.Gly231Ser) |
single nucleotide variant |
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV002486091]|not provided [RCV001289093] |
Chr18:60371659 [GRCh38] Chr18:58038892 [GRCh37] Chr18:18q21.32 |
uncertain significance |
GRCh37/hg19 18q21.2-23(chr18:51925586-78010032) |
copy number gain |
Global developmental delay [RCV001352665] |
Chr18:51925586..78010032 [GRCh37] Chr18:18q21.2-23 |
pathogenic |
NM_005912.3(MC4R):c.418del (p.Leu140fs) |
deletion |
not provided [RCV001370042] |
Chr18:60371932 [GRCh38] Chr18:58039165 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_005912.3(MC4R):c.831T>A (p.Cys277Ter) |
single nucleotide variant |
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV001783633] |
Chr18:60371519 [GRCh38] Chr18:58038752 [GRCh37] Chr18:18q21.32 |
pathogenic |
NM_005912.3(MC4R):c.268G>A (p.Asp90Asn) |
single nucleotide variant |
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV001733857] |
Chr18:60372082 [GRCh38] Chr18:58039315 [GRCh37] Chr18:18q21.32 |
pathogenic |
NM_005912.3(MC4R):c.763G>A (p.Val255Ile) |
single nucleotide variant |
not provided [RCV001775495] |
Chr18:60371587 [GRCh38] Chr18:58038820 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_005912.3(MC4R):c.240C>A (p.Tyr80Ter) |
single nucleotide variant |
not provided [RCV001794977] |
Chr18:60372110 [GRCh38] Chr18:58039343 [GRCh37] Chr18:18q21.32 |
pathogenic |
NM_005912.3(MC4R):c.549G>C (p.Leu183Phe) |
single nucleotide variant |
Inherited obesity [RCV001795590] |
Chr18:60371801 [GRCh38] Chr18:58039034 [GRCh37] Chr18:18q21.32 |
uncertain significance |
GRCh37/hg19 18q21.2-23(chr18:53309113-78014123) |
copy number loss |
not specified [RCV002052646] |
Chr18:53309113..78014123 [GRCh37] Chr18:18q21.2-23 |
pathogenic |
GRCh37/hg19 18q21.2-23(chr18:52837852-77989426) |
copy number loss |
not specified [RCV002052642] |
Chr18:52837852..77989426 [GRCh37] Chr18:18q21.2-23 |
pathogenic |
GRCh37/hg19 18p11.32-q23(chr18:136226-78014123) |
copy number gain |
not specified [RCV002052616] |
Chr18:136226..78014123 [GRCh37] Chr18:18p11.32-q23 |
pathogenic |
NM_005912.3(MC4R):c.437A>T (p.Asp146Val) |
single nucleotide variant |
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV001823846] |
Chr18:60371913 [GRCh38] Chr18:58039146 [GRCh37] Chr18:18q21.32 |
uncertain significance |
GRCh37/hg19 18q21.2-23(chr18:52675201-78014123) |
copy number loss |
not specified [RCV002052641] |
Chr18:52675201..78014123 [GRCh37] Chr18:18q21.2-23 |
pathogenic |
NM_005912.3(MC4R):c.847C>T (p.His283Tyr) |
single nucleotide variant |
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV001823840] |
Chr18:60371503 [GRCh38] Chr18:58038736 [GRCh37] Chr18:18q21.32 |
uncertain significance |
GRCh37/hg19 18q21.2-23(chr18:53100584-78014123) |
copy number loss |
not specified [RCV002052643] |
Chr18:53100584..78014123 [GRCh37] Chr18:18q21.2-23 |
pathogenic |
GRCh37/hg19 18q21.2-22.1(chr18:50739715-63705988) |
copy number loss |
not specified [RCV002052639] |
Chr18:50739715..63705988 [GRCh37] Chr18:18q21.2-22.1 |
pathogenic |
GRCh37/hg19 18q21.1-23(chr18:47656799-78014123) |
copy number loss |
not specified [RCV002052636] |
Chr18:47656799..78014123 [GRCh37] Chr18:18q21.1-23 |
pathogenic |
NC_000018.9:g.(?_55217944)_(58039582_?)del |
deletion |
Combined immunodeficiency due to MALT1 deficiency [RCV001983009]|not provided [RCV003120789] |
Chr18:55217944..58039582 [GRCh37] Chr18:18q21.31-21.32 |
pathogenic|uncertain significance |
NM_005912.3(MC4R):c.258G>T (p.Leu86Phe) |
single nucleotide variant |
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV001823842] |
Chr18:60372092 [GRCh38] Chr18:58039325 [GRCh37] Chr18:18q21.32 |
likely pathogenic |
NM_005912.3(MC4R):c.235A>G (p.Met79Val) |
single nucleotide variant |
not provided [RCV001880358] |
Chr18:60372115 [GRCh38] Chr18:58039348 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_005912.3(MC4R):c.53G>T (p.Arg18Leu) |
single nucleotide variant |
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV002507777]|not provided [RCV002015992] |
Chr18:60372297 [GRCh38] Chr18:58039530 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NC_000018.9:g.(?_55217944)_(58040587_?)dup |
duplication |
not provided [RCV001922994] |
Chr18:55217944..58040587 [GRCh37] Chr18:18q21.31-21.32 |
uncertain significance |
NM_005912.3(MC4R):c.636T>C (p.Tyr212=) |
single nucleotide variant |
not provided [RCV002157725] |
Chr18:60371714 [GRCh38] Chr18:58038947 [GRCh37] Chr18:18q21.32 |
likely benign |
NM_005912.3(MC4R):c.461C>T (p.Ala154Val) |
single nucleotide variant |
not provided [RCV003110025] |
Chr18:60371889 [GRCh38] Chr18:58039122 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NC_000018.9:g.(?_55217944)_(58039582_?)dup |
duplication |
Combined immunodeficiency due to MALT1 deficiency [RCV003109569]|not provided [RCV003116545] |
Chr18:55217944..58039582 [GRCh37] Chr18:18q21.31-21.32 |
uncertain significance |
NC_000018.9:g.(?_55217944)_(58040587_?)del |
deletion |
Isolated microphthalmia 3 [RCV003116662]|not provided [RCV003116663] |
Chr18:55217944..58040587 [GRCh37] Chr18:18q21.31-21.32 |
pathogenic |
NM_005912.3(MC4R):c.754G>A (p.Gly252Ser) |
single nucleotide variant |
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV002289318] |
Chr18:60371596 [GRCh38] Chr18:58038829 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_005912.3(MC4R):c.835T>C (p.Cys279Arg) |
single nucleotide variant |
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV002283686] |
Chr18:60371515 [GRCh38] Chr18:58038748 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_005912.3(MC4R):c.410T>C (p.Ile137Thr) |
single nucleotide variant |
not provided [RCV002293739] |
Chr18:60371940 [GRCh38] Chr18:58039173 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_005912.3(MC4R):c.127C>A (p.Gln43Lys) |
single nucleotide variant |
Obesity [RCV002464551] |
Chr18:60372223 [GRCh38] Chr18:58039456 [GRCh37] Chr18:18q21.32 |
likely pathogenic |
GRCh37/hg19 18q21.2-23(chr18:53624405-78014123)x1 |
copy number loss |
not provided [RCV002473956] |
Chr18:53624405..78014123 [GRCh37] Chr18:18q21.2-23 |
pathogenic |
GRCh37/hg19 18q21.32(chr18:57894993-58039760)x1 |
copy number loss |
not provided [RCV002472651] |
Chr18:57894993..58039760 [GRCh37] Chr18:18q21.32 |
likely pathogenic |
NM_005912.3(MC4R):c.935C>G (p.Thr312Ser) |
single nucleotide variant |
not provided [RCV002469815] |
Chr18:60371415 [GRCh38] Chr18:58038648 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_005912.3(MC4R):c.171del (p.Ser58fs) |
deletion |
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV002468457] |
Chr18:60372179 [GRCh38] Chr18:58039412 [GRCh37] Chr18:18q21.32 |
pathogenic |
NM_005912.3(MC4R):c.895C>T (p.Pro299Ser) |
single nucleotide variant |
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV002468537] |
Chr18:60371455 [GRCh38] Chr18:58038688 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_005912.3(MC4R):c.221A>T (p.Asn74Ile) |
single nucleotide variant |
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV002468544] |
Chr18:60372129 [GRCh38] Chr18:58039362 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_005912.3(MC4R):c.631C>G (p.Leu211Val) |
single nucleotide variant |
not provided [RCV003013999] |
Chr18:60371719 [GRCh38] Chr18:58038952 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_005912.3(MC4R):c.873_875del (p.Ile291del) |
deletion |
not provided [RCV002594834] |
Chr18:60371475..60371477 [GRCh38] Chr18:58038708..58038710 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_005912.3(MC4R):c.419T>C (p.Leu140Pro) |
single nucleotide variant |
not provided [RCV003009925] |
Chr18:60371931 [GRCh38] Chr18:58039164 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_005912.3(MC4R):c.422T>G (p.Leu141Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002808703] |
Chr18:60371928 [GRCh38] Chr18:58039161 [GRCh37] Chr18:18q21.32 |
uncertain significance |
NM_005912.3(MC4R):c.227A>G (p.His76Arg) |
single nucleotide variant |
not provided [RCV002988631] |
Chr18:60372123 [GRCh38] Chr18:58039356 [GRCh37] Chr18:18q21.32 |
uncertain significance |