| NM_002386.4(MC1R):c.120C>T (p.Ile40=) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000549194] |
Chr16:89919378 [GRCh38]
Chr16:89985786 [GRCh37]
Chr16:16q24.3 |
likely benign |
| NM_002386.4(MC1R):c.437TCT[1] (p.Phe147del) |
microsatellite |
UV-induced skin damage, susceptibility to [RCV000015389] |
Chr16:89919695..89919697 [GRCh38]
Chr16:89986103..89986105 [GRCh37]
Chr16:16q24.3 |
risk factor |
| NM_002386.4(MC1R):c.768C>T (p.Pro256=) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000545433] |
Chr16:89920026 [GRCh38]
Chr16:89986434 [GRCh37]
Chr16:16q24.3 |
likely benign |
| NM_002386.4(MC1R):c.332C>T (p.Ala111Val) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000526662]|Tyrosinase-positive oculocutaneous albinism [RCV000764096] |
Chr16:89919590 [GRCh38]
Chr16:89985998 [GRCh37]
Chr16:16q24.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_002386.4(MC1R):c.248C>T (p.Ser83Leu) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000550231] |
Chr16:89919506 [GRCh38]
Chr16:89985914 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.880G>C (p.Asp294His) |
single nucleotide variant |
MC1R-related condition [RCV003891437]|Melanoma [RCV001195217]|Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001080639]|Skin and Hair Hypopigmentation [RCV000851264]|Skin/hair/eye pigmentation 2, red hair/fair skin [RCV000015377]|Tyrosinase-positive oculocutaneous albinism [RCV000662303]|not provided [RCV000347221] |
Chr16:89920138 [GRCh38]
Chr16:89986546 [GRCh37]
Chr16:16q24.3 |
pathogenic|likely pathogenic|risk factor|association|benign|likely benign|conflicting interpretations of pathogenicity |
| NM_002386.4(MC1R):c.274G>A (p.Val92Met) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000278283]|Skin/hair/eye pigmentation 2, blond hair/fair skin [RCV000015379]|Skin/hair/eye pigmentation 2, red hair/fair skin [RCV000015378]|not provided [RCV001707509]|not specified [RCV000247471] |
Chr16:89919532 [GRCh38]
Chr16:89985940 [GRCh37]
Chr16:16q24.3 |
pathogenic|association|benign |
| NM_002386.4(MC1R):c.252C>A (p.Asp84Glu) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000015380]|not provided [RCV000413549] |
Chr16:89919510 [GRCh38]
Chr16:89985918 [GRCh37]
Chr16:16q24.3 |
likely pathogenic|risk factor|benign|likely benign|conflicting interpretations of pathogenicity |
| NM_002386.4(MC1R):c.478C>T (p.Arg160Trp) |
single nucleotide variant |
Increased analgesia from kappa-opioid receptor agonist, female-specific [RCV000015382]|Malignant tumor of breast [RCV001281076]|Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000356300]|OCULOCUTANEOUS ALBINISM, TYPE II, MODIFIER OF [RCV000015383]|Skin/hair/eye pigmentation 2, red hair/fair skin [RCV000015381]|not provided [RCV000255906]|not specified [RCV000244718] |
Chr16:89919736 [GRCh38]
Chr16:89986144 [GRCh37]
Chr16:16q24.3 |
pathogenic|risk factor|association|affects|benign|likely benign|conflicting interpretations of pathogenicity |
| NM_002386.4(MC1R):c.178G>T (p.Val60Leu) |
single nucleotide variant |
Malignant tumor of breast [RCV001269496]|Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000276119]|Skin/hair/eye pigmentation 2, blond hair/fair skin [RCV000015384]|Tyrosinase-positive oculocutaneous albinism [RCV002476972]|not provided [RCV001650834]|not specified [RCV000242490] |
Chr16:89919436 [GRCh38]
Chr16:89985844 [GRCh37]
Chr16:16q24.3 |
pathogenic|association|benign|likely benign |
| NM_002386.4(MC1R):c.451C>T (p.Arg151Cys) |
single nucleotide variant |
Increased analgesia from kappa-opioid receptor agonist, female-specific [RCV000015386]|Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000472249]|OCULOCUTANEOUS ALBINISM, TYPE II, MODIFIER OF [RCV000015387]|Skin/hair/eye pigmentation 2, red hair/fair skin [RCV000015385]|not provided [RCV000255991]|not specified [RCV000242808] |
Chr16:89919709 [GRCh38]
Chr16:89986117 [GRCh37]
Chr16:16q24.3 |
pathogenic|risk factor|association|affects|benign|likely benign|conflicting interpretations of pathogenicity |
| NM_002386.4(MC1R):c.470C>T (p.Thr157Ile) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001851872]|UV-induced skin damage, susceptibility to [RCV000015390] |
Chr16:89919728 [GRCh38]
Chr16:89986136 [GRCh37]
Chr16:16q24.3 |
risk factor|uncertain significance |
| NM_002386.4(MC1R):c.475C>A (p.Pro159Thr) |
single nucleotide variant |
UV-induced skin damage, susceptibility to [RCV000015391] |
Chr16:89919733 [GRCh38]
Chr16:89986141 [GRCh37]
Chr16:16q24.3 |
risk factor |
| GRCh38/hg38 16q23.1-24.3(chr16:78816291-90081985)x3 |
copy number gain |
See cases [RCV000050840] |
Chr16:78816291..90081985 [GRCh38]
Chr16:78850188..90148393 [GRCh37]
Chr16:77407689..88675894 [NCBI36]
Chr16:16q23.1-24.3 |
pathogenic |
| GRCh38/hg38 16q24.3(chr16:89830573-90044855)x1 |
copy number loss |
See cases [RCV000050374] |
Chr16:89830573..90044855 [GRCh38]
Chr16:89896981..90111263 [GRCh37]
Chr16:88424482..88638764 [NCBI36]
Chr16:16q24.3 |
uncertain significance |
| GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3 |
copy number gain |
See cases [RCV000052422] |
Chr16:70514631..90081985 [GRCh38]
Chr16:70548534..90148393 [GRCh37]
Chr16:69106035..88675894 [NCBI36]
Chr16:16q22.1-24.3 |
pathogenic |
| GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3 |
copy number gain |
See cases [RCV000052421] |
Chr16:65313395..90081985 [GRCh38]
Chr16:65347298..90148393 [GRCh37]
Chr16:63904799..88675894 [NCBI36]
Chr16:16q21-24.3 |
pathogenic |
| GRCh38/hg38 16q24.3(chr16:89730086-90081985)x1 |
copy number loss |
See cases [RCV000052022] |
Chr16:89730086..90081985 [GRCh38]
Chr16:89796494..90148393 [GRCh37]
Chr16:88323995..88675894 [NCBI36]
Chr16:16q24.3 |
uncertain significance |
| GRCh38/hg38 16q24.3(chr16:89791645-90000807)x1 |
copy number loss |
See cases [RCV000052023] |
Chr16:89791645..90000807 [GRCh38]
Chr16:89858053..90067215 [GRCh37]
Chr16:88385554..88594716 [NCBI36]
Chr16:16q24.3 |
uncertain significance |
| GRCh38/hg38 16q23.1-24.3(chr16:76873569-90081985)x3 |
copy number gain |
See cases [RCV000052423] |
Chr16:76873569..90081985 [GRCh38]
Chr16:76907466..90148393 [GRCh37]
Chr16:75464967..88675894 [NCBI36]
Chr16:16q23.1-24.3 |
pathogenic |
| GRCh38/hg38 16q23.3-24.3(chr16:82173150-90081985)x3 |
copy number gain |
See cases [RCV000052424] |
Chr16:82173150..90081985 [GRCh38]
Chr16:82206755..90148393 [GRCh37]
Chr16:80764256..88675894 [NCBI36]
Chr16:16q23.3-24.3 |
pathogenic |
| GRCh38/hg38 16q24.1-24.3(chr16:84707538-90081985)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052425]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052425]|See cases [RCV000052425] |
Chr16:84707538..90081985 [GRCh38]
Chr16:84741144..90148393 [GRCh37]
Chr16:83298645..88675894 [NCBI36]
Chr16:16q24.1-24.3 |
pathogenic |
| GRCh38/hg38 16q24.2-24.3(chr16:87853401-90081985)x3 |
copy number gain |
See cases [RCV000052428] |
Chr16:87853401..90081985 [GRCh38]
Chr16:87887007..90148393 [GRCh37]
Chr16:86444508..88675894 [NCBI36]
Chr16:16q24.2-24.3 |
pathogenic |
| GRCh38/hg38 16q24.3(chr16:89665706-90081985)x3 |
copy number gain |
See cases [RCV000053937] |
Chr16:89665706..90081985 [GRCh38]
Chr16:89732114..90148393 [GRCh37]
Chr16:88259615..88675894 [NCBI36]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.517GTC[1] (p.Val174del) |
microsatellite |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001855403]|Skin and Hair Hypopigmentation [RCV000851263]|Tyrosinase-positive oculocutaneous albinism [RCV000662302] |
Chr16:89919775..89919777 [GRCh38]
Chr16:89986183..89986185 [GRCh37]
Chr16:16q24.3 |
likely pathogenic|uncertain significance |
| NM_002386.4(MC1R):c.894C>G (p.Tyr298Ter) |
single nucleotide variant |
Skin and Hair Hypopigmentation [RCV000851265]|Tyrosinase-positive oculocutaneous albinism [RCV000662304] |
Chr16:89920152 [GRCh38]
Chr16:89986560 [GRCh37]
Chr16:16q24.3 |
likely pathogenic |
| NM_002386.4(MC1R):c.575T>C (p.Leu192Pro) |
single nucleotide variant |
not provided [RCV000148030] |
Chr16:89919833 [GRCh38]
Chr16:89986241 [GRCh37]
Chr16:16q24.3 |
not provided |
| NM_002386.4(MC1R):c.793G>A (p.Val265Ile) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000707635]|not provided [RCV000148031] |
Chr16:89920051 [GRCh38]
Chr16:89986459 [GRCh37]
Chr16:16q24.3 |
uncertain significance|not provided |
| GRCh38/hg38 16q23.3-24.3(chr16:83988570-90081985)x3 |
copy number gain |
See cases [RCV000135659] |
Chr16:83988570..90081985 [GRCh38]
Chr16:84022175..90148393 [GRCh37]
Chr16:82579676..88675894 [NCBI36]
Chr16:16q23.3-24.3 |
likely pathogenic |
| GRCh38/hg38 16q23.2-24.3(chr16:80946659-90081985)x3 |
copy number gain |
See cases [RCV000136898] |
Chr16:80946659..90081985 [GRCh38]
Chr16:80980556..90148393 [GRCh37]
Chr16:79538057..88675894 [NCBI36]
Chr16:16q23.2-24.3 |
pathogenic|likely pathogenic |
| GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3 |
copy number gain |
See cases [RCV000137495] |
Chr16:70749398..90096995 [GRCh38]
Chr16:70783301..90163403 [GRCh37]
Chr16:69340802..88690904 [NCBI36]
Chr16:16q22.1-24.3 |
pathogenic |
| GRCh38/hg38 16q24.2-24.3(chr16:87848216-90096995)x3 |
copy number gain |
See cases [RCV000138161] |
Chr16:87848216..90096995 [GRCh38]
Chr16:87881822..90163403 [GRCh37]
Chr16:86439323..88690904 [NCBI36]
Chr16:16q24.2-24.3 |
likely pathogenic |
| GRCh38/hg38 16q23.3-24.3(chr16:83478453-89932910)x3 |
copy number gain |
See cases [RCV000137980] |
Chr16:83478453..89932910 [GRCh38]
Chr16:83512058..89999318 [GRCh37]
Chr16:82069559..88526819 [NCBI36]
Chr16:16q23.3-24.3 |
likely pathogenic |
| GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3 |
copy number gain |
See cases [RCV000139426] |
Chr16:65511483..90096995 [GRCh38]
Chr16:65545386..90163403 [GRCh37]
Chr16:64102887..88690904 [NCBI36]
Chr16:16q21-24.3 |
pathogenic |
| GRCh38/hg38 16q23.1-24.3(chr16:75377981-90081992)x3 |
copy number gain |
See cases [RCV000139302] |
Chr16:75377981..90081992 [GRCh38]
Chr16:75411879..90148400 [GRCh37]
Chr16:73969380..88675901 [NCBI36]
Chr16:16q23.1-24.3 |
pathogenic |
| GRCh38/hg38 16q24.1-24.3(chr16:85552976-90096995)x3 |
copy number gain |
See cases [RCV000139658] |
Chr16:85552976..90096995 [GRCh38]
Chr16:85586582..90163403 [GRCh37]
Chr16:84144083..88690904 [NCBI36]
Chr16:16q24.1-24.3 |
pathogenic |
| GRCh38/hg38 16q23.2-24.3(chr16:80717291-90096662)x3 |
copy number gain |
See cases [RCV000141128] |
Chr16:80717291..90096662 [GRCh38]
Chr16:80751188..90163070 [GRCh37]
Chr16:79308689..88690571 [NCBI36]
Chr16:16q23.2-24.3 |
pathogenic |
| GRCh38/hg38 16q23.1-24.3(chr16:76336203-90088654)x3 |
copy number gain |
See cases [RCV000141700] |
Chr16:76336203..90088654 [GRCh38]
Chr16:76370100..90155062 [GRCh37]
Chr16:74927601..88682563 [NCBI36]
Chr16:16q23.1-24.3 |
pathogenic |
| GRCh38/hg38 16q23.2-24.3(chr16:80067315-90057871)x3 |
copy number gain |
See cases [RCV000142698] |
Chr16:80067315..90057871 [GRCh38]
Chr16:80101212..90124279 [GRCh37]
Chr16:78658713..88651780 [NCBI36]
Chr16:16q23.2-24.3 |
pathogenic |
| GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3 |
copy number gain |
See cases [RCV000142578] |
Chr16:64389378..90081985 [GRCh38]
Chr16:64423281..90148393 [GRCh37]
Chr16:62980782..88675894 [NCBI36]
Chr16:16q21-24.3 |
pathogenic|likely pathogenic |
| GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3 |
copy number gain |
See cases [RCV000143425] |
Chr16:52899183..90088654 [GRCh38]
Chr16:52933095..90155062 [GRCh37]
Chr16:51490596..88682563 [NCBI36]
Chr16:16q12.2-24.3 |
pathogenic |
| GRCh38/hg38 16q24.3(chr16:89830573-90044855)x1 |
copy number loss |
See cases [RCV000148110] |
Chr16:89830573..90044855 [GRCh38]
Chr16:89896981..90111263 [GRCh37]
Chr16:88424482..88638764 [NCBI36]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.456C>A (p.Tyr152Ter) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000470714]|not provided [RCV000254860] |
Chr16:89919714 [GRCh38]
Chr16:89986122 [GRCh37]
Chr16:16q24.3 |
pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| GRCh37/hg19 16q24.3(chr16:89836157-90127980)x1 |
copy number loss |
See cases [RCV000240112] |
Chr16:89836157..90127980 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| GRCh37/hg19 16q23.1-24.3(chr16:74872514-90274440)x3 |
copy number gain |
See cases [RCV000240108] |
Chr16:74872514..90274440 [GRCh37]
Chr16:16q23.1-24.3 |
pathogenic |
| t(5;16)(p15.31;q23.1) |
translocation |
not provided [RCV000203391] |
Chr5:1..8180513 [GRCh37]
Chr16:76935310..90354753 [GRCh37]
Chr5:5p15.33-15.31
Chr16:16q23.1-24.3 |
likely pathogenic |
| GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1 |
copy number loss |
Breast ductal adenocarcinoma [RCV000207138] |
Chr16:46615804..90142285 [GRCh37]
Chr16:16q11.2-24.3 |
uncertain significance |
| GRCh37/hg19 16q22.2-24.3(chr16:72107834-90142285)x1 |
copy number loss |
Breast ductal adenocarcinoma [RCV000207182] |
Chr16:72107834..90142285 [GRCh37]
Chr16:16q22.2-24.3 |
uncertain significance |
| Single allele |
complex |
Breast ductal adenocarcinoma [RCV000207314] |
Chr16:56368689..90141355 [GRCh37]
Chr16:16q12.2-24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.531G>A (p.Thr177=) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000229064] |
Chr16:89919789 [GRCh38]
Chr16:89986197 [GRCh37]
Chr16:16q24.3 |
benign |
| NM_002386.4(MC1R):c.583T>G (p.Phe195Val) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000231910]|Tyrosinase-positive oculocutaneous albinism [RCV000764097] |
Chr16:89919841 [GRCh38]
Chr16:89986249 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.86dup (p.Asn29fs) |
duplication |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000230113]|not provided [RCV000996417] |
Chr16:89919342..89919343 [GRCh38]
Chr16:89985750..89985751 [GRCh37]
Chr16:16q24.3 |
pathogenic|uncertain significance |
| NM_002386.4(MC1R):c.464T>C (p.Ile155Thr) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001081128]|not provided [RCV000254880]|not specified [RCV000247792] |
Chr16:89919722 [GRCh38]
Chr16:89986130 [GRCh37]
Chr16:16q24.3 |
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity |
| NM_002386.4(MC1R):c.686G>A (p.Arg229His) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000232311] |
Chr16:89919944 [GRCh38]
Chr16:89986352 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.699G>A (p.Gln233=) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000226151] |
Chr16:89919957 [GRCh38]
Chr16:89986365 [GRCh37]
Chr16:16q24.3 |
benign|likely benign |
| NM_002386.4(MC1R):c.425G>A (p.Arg142His) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000227554]|not provided [RCV001172103] |
Chr16:89919683 [GRCh38]
Chr16:89986091 [GRCh37]
Chr16:16q24.3 |
benign|likely benign |
| NM_002386.4(MC1R):c.645C>A (p.Cys215Ter) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000234771] |
Chr16:89919903 [GRCh38]
Chr16:89986311 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.364G>A (p.Val122Met) |
single nucleotide variant |
MC1R-related condition [RCV003929955]|Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000233716] |
Chr16:89919622 [GRCh38]
Chr16:89986030 [GRCh37]
Chr16:16q24.3 |
likely pathogenic|benign|likely benign|uncertain significance |
| NM_002386.4(MC1R):c.479G>A (p.Arg160Gln) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000234103] |
Chr16:89919737 [GRCh38]
Chr16:89986145 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.67C>T (p.Gln23Ter) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000228327]|not provided [RCV000578946] |
Chr16:89919325 [GRCh38]
Chr16:89985733 [GRCh37]
Chr16:16q24.3 |
likely pathogenic|benign|likely benign|uncertain significance |
| NM_002386.4(MC1R):c.894C>T (p.Tyr298=) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000546805] |
Chr16:89920152 [GRCh38]
Chr16:89986560 [GRCh37]
Chr16:16q24.3 |
likely benign |
| NM_002386.4(MC1R):c.359T>C (p.Ile120Thr) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000490361]|not specified [RCV000252453] |
Chr16:89919617 [GRCh38]
Chr16:89986025 [GRCh37]
Chr16:16q24.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002386.4(MC1R):c.942A>G (p.Thr314=) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000394014]|not provided [RCV001618421]|not specified [RCV000253346] |
Chr16:89920200 [GRCh38]
Chr16:89986608 [GRCh37]
Chr16:16q24.3 |
benign |
| NM_002386.4(MC1R):c.795C>G (p.Val265=) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001512030]|Tyrosinase-positive oculocutaneous albinism [RCV002494738]|not specified [RCV000251387] |
Chr16:89920053 [GRCh38]
Chr16:89986461 [GRCh37]
Chr16:16q24.3 |
benign|likely benign |
| NM_002386.4(MC1R):c.689C>T (p.Pro230Leu) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001211146] |
Chr16:89919947 [GRCh38]
Chr16:89986355 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| GRCh37/hg19 16q24.3(chr16:89696893-90103214)x3 |
copy number gain |
See cases [RCV000240330] |
Chr16:89696893..90103214 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.466G>C (p.Val156Leu) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000463850]|Tyrosinase-positive oculocutaneous albinism [RCV002500892]|not provided [RCV001753720]|not specified [RCV000252743] |
Chr16:89919724 [GRCh38]
Chr16:89986132 [GRCh37]
Chr16:16q24.3 |
benign|likely benign |
| NM_002386.4(MC1R):c.488G>A (p.Arg163Gln) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000263355]|Tyrosinase-positive oculocutaneous albinism [RCV002500893]|not provided [RCV001683032]|not specified [RCV000248045] |
Chr16:89919746 [GRCh38]
Chr16:89986154 [GRCh37]
Chr16:16q24.3 |
benign |
| NM_002386.4(MC1R):c.*12G>A |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000360143]|not provided [RCV001640521]|not specified [RCV000250529] |
Chr16:89920224 [GRCh38]
Chr16:89986632 [GRCh37]
Chr16:16q24.3 |
benign |
| NM_002386.4(MC1R):c.900C>T (p.Phe300=) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000457546]|not provided [RCV001610624]|not specified [RCV000248356] |
Chr16:89920158 [GRCh38]
Chr16:89986566 [GRCh37]
Chr16:16q24.3 |
benign|likely benign |
| NM_002386.3(MC1R):c.-1251C>T |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000265249] |
Chr16:89918008 [GRCh38]
Chr16:89984416 [GRCh37]
Chr16:16q24.3 |
benign|likely benign |
| NM_002386.4(MC1R):c.628A>C (p.Met210Leu) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000284794] |
Chr16:89919886 [GRCh38]
Chr16:89986294 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.325C>T (p.Arg109Trp) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000689907] |
Chr16:89919583 [GRCh38]
Chr16:89985991 [GRCh37]
Chr16:16q24.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002386.4(MC1R):c.-114G>A |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000305603] |
Chr16:89919145 [GRCh38]
Chr16:89985553 [GRCh37]
Chr16:16q24.3 |
benign|likely benign |
| NM_002386.4(MC1R):c.652G>A (p.Ala218Thr) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 1 [RCV001824733]|Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000647344] |
Chr16:89919910 [GRCh38]
Chr16:89986318 [GRCh37]
Chr16:16q24.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_002386.4(MC1R):c.*226G>A |
single nucleotide variant |
Malignant Melanoma Susceptibility [RCV000271574] |
Chr16:89920438 [GRCh38]
Chr16:89986846 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.3(MC1R):c.-535G>A |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000272416] |
Chr16:89918724 [GRCh38]
Chr16:89985132 [GRCh37]
Chr16:16q24.3 |
benign|likely benign |
| NM_002386.3(MC1R):c.-1209C>T |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000290718] |
Chr16:89918050 [GRCh38]
Chr16:89984458 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.399C>T (p.Cys133=) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000462773] |
Chr16:89919657 [GRCh38]
Chr16:89986065 [GRCh37]
Chr16:16q24.3 |
benign|likely benign |
| NM_002386.4(MC1R):c.247T>C (p.Ser83Pro) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001088138]|Skin/hair/eye pigmentation, variation in, 2 [RCV003335306]|not provided [RCV000489013] |
Chr16:89919505 [GRCh38]
Chr16:89985913 [GRCh37]
Chr16:16q24.3 |
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002386.4(MC1R):c.-356A>G |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000293419] |
Chr16:89918903 [GRCh38]
Chr16:89985311 [GRCh37]
Chr16:16q24.3 |
benign|likely benign |
| NM_002386.4(MC1R):c.*501C>G |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000293723] |
Chr16:89920713 [GRCh38]
Chr16:89987121 [GRCh37]
Chr16:16q24.3 |
likely benign|uncertain significance |
| NM_002386.3(MC1R):c.-1289C>T |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000259255]|not provided [RCV001690066] |
Chr16:89917970 [GRCh38]
Chr16:89984378 [GRCh37]
Chr16:16q24.3 |
benign|likely benign |
| NM_002386.4(MC1R):c.*337A>G |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000276170] |
Chr16:89920549 [GRCh38]
Chr16:89986957 [GRCh37]
Chr16:16q24.3 |
benign|likely benign |
| NM_002386.4(MC1R):c.729C>T (p.Leu243=) |
single nucleotide variant |
Malignant Melanoma Susceptibility [RCV000295660]|Melanoma, cutaneous malignant, susceptibility to, 5 [RCV003514349] |
Chr16:89919987 [GRCh38]
Chr16:89986395 [GRCh37]
Chr16:16q24.3 |
likely benign|uncertain significance |
| NM_002386.3(MC1R):c.-1063T>C |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000296786]|not provided [RCV001643001] |
Chr16:89918196 [GRCh38]
Chr16:89984604 [GRCh37]
Chr16:16q24.3 |
benign |
| NM_002386.3(MC1R):c.-909A>G |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000298738] |
Chr16:89918350 [GRCh38]
Chr16:89984758 [GRCh37]
Chr16:16q24.3 |
likely benign|uncertain significance |
| NM_002386.4(MC1R):c.-312_-310del |
deletion |
Malignant Melanoma Susceptibility [RCV000280762] |
Chr16:89918946..89918948 [GRCh38]
Chr16:89985354..89985356 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.3(MC1R):c.-600C>T |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000268398] |
Chr16:89918659 [GRCh38]
Chr16:89985067 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.200G>A (p.Arg67Gln) |
single nucleotide variant |
MC1R-related condition [RCV003922360]|Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001080560]|Tyrosinase-positive oculocutaneous albinism [RCV002495012]|not provided [RCV000537609] |
Chr16:89919458 [GRCh38]
Chr16:89985866 [GRCh37]
Chr16:16q24.3 |
benign|likely benign |
| NM_002386.4(MC1R):c.169G>A (p.Ala57Thr) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001071290] |
Chr16:89919427 [GRCh38]
Chr16:89985835 [GRCh37]
Chr16:16q24.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002386.4(MC1R):c.556G>A (p.Val186Met) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000688228] |
Chr16:89919814 [GRCh38]
Chr16:89986222 [GRCh37]
Chr16:16q24.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002386.4(MC1R):c.*263C>T |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000325481] |
Chr16:89920475 [GRCh38]
Chr16:89986883 [GRCh37]
Chr16:16q24.3 |
likely benign|uncertain significance |
| NM_002386.4(MC1R):c.792C>T (p.Ile264=) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001081702]|not provided [RCV000465980]|not specified [RCV001729533] |
Chr16:89920050 [GRCh38]
Chr16:89986458 [GRCh37]
Chr16:16q24.3 |
benign|likely benign |
| NM_002386.4(MC1R):c.-338C>T |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000348335] |
Chr16:89918921 [GRCh38]
Chr16:89985329 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.3(MC1R):c.-928A>G |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000397461] |
Chr16:89918331 [GRCh38]
Chr16:89984739 [GRCh37]
Chr16:16q24.3 |
benign |
| NM_002386.4(MC1R):c.309C>T (p.Ala103=) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000863309] |
Chr16:89919567 [GRCh38]
Chr16:89985975 [GRCh37]
Chr16:16q24.3 |
benign|likely benign |
| NM_002386.4(MC1R):c.-323G>A |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000375302] |
Chr16:89918936 [GRCh38]
Chr16:89985344 [GRCh37]
Chr16:16q24.3 |
benign|likely benign |
| NM_002386.4(MC1R):c.637C>T (p.Arg213Trp) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000476253] |
Chr16:89919895 [GRCh38]
Chr16:89986303 [GRCh37]
Chr16:16q24.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002386.4(MC1R):c.*581A>G |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000375194] |
Chr16:89920793 [GRCh38]
Chr16:89987201 [GRCh37]
Chr16:16q24.3 |
benign |
| NM_002386.4(MC1R):c.101G>A (p.Arg34Gln) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000308100] |
Chr16:89919359 [GRCh38]
Chr16:89985767 [GRCh37]
Chr16:16q24.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002386.4(MC1R):c.586T>C (p.Phe196Leu) |
single nucleotide variant |
MC1R-related condition [RCV003972374]|Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000461696]|Tyrosinase-positive oculocutaneous albinism [RCV002504092]|not provided [RCV001753781] |
Chr16:89919844 [GRCh38]
Chr16:89986252 [GRCh37]
Chr16:16q24.3 |
benign|likely benign |
| NM_002386.3(MC1R):c.-1297T>C |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000354264]|not provided [RCV001709594] |
Chr16:89917962 [GRCh38]
Chr16:89984370 [GRCh37]
Chr16:16q24.3 |
benign |
| NM_002386.4(MC1R):c.318G>A (p.Leu106=) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000475378] |
Chr16:89919576 [GRCh38]
Chr16:89985984 [GRCh37]
Chr16:16q24.3 |
benign|likely benign |
| NM_002386.3(MC1R):c.-1263G>A |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000378477] |
Chr16:89917996 [GRCh38]
Chr16:89984404 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.717C>T (p.Gly239=) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000539784]|not provided [RCV003736716] |
Chr16:89919975 [GRCh38]
Chr16:89986383 [GRCh37]
Chr16:16q24.3 |
likely benign |
| NM_002386.3(MC1R):c.-490C>T |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000381996] |
Chr16:89918769 [GRCh38]
Chr16:89985177 [GRCh37]
Chr16:16q24.3 |
benign |
| NM_002386.4(MC1R):c.651C>T (p.His217=) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000384364] |
Chr16:89919909 [GRCh38]
Chr16:89986317 [GRCh37]
Chr16:16q24.3 |
likely benign|uncertain significance |
| NM_002386.3(MC1R):c.-1234C>T |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000385169] |
Chr16:89918025 [GRCh38]
Chr16:89984433 [GRCh37]
Chr16:16q24.3 |
benign|likely benign |
| NM_002386.3(MC1R):c.-445G>A |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000333164] |
Chr16:89918814 [GRCh38]
Chr16:89985222 [GRCh37]
Chr16:16q24.3 |
benign |
| NM_002386.4(MC1R):c.515G>T (p.Ser172Ile) |
single nucleotide variant |
Malignant Melanoma Susceptibility [RCV000354729]|Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000473808]|Skin and Hair Hypopigmentation [RCV000851262]|Tyrosinase-positive oculocutaneous albinism [RCV000662301] |
Chr16:89919773 [GRCh38]
Chr16:89986181 [GRCh37]
Chr16:16q24.3 |
likely pathogenic|benign|likely benign|uncertain significance |
| NM_002386.4(MC1R):c.819C>T (p.Cys273=) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000860924]|not provided [RCV003422278] |
Chr16:89920077 [GRCh38]
Chr16:89986485 [GRCh37]
Chr16:16q24.3 |
benign|likely benign |
| NM_002386.4(MC1R):c.189C>T (p.Ile63=) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000333479] |
Chr16:89919447 [GRCh38]
Chr16:89985855 [GRCh37]
Chr16:16q24.3 |
likely benign |
| NM_002386.4(MC1R):c.-226A>T |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000406277]|not provided [RCV001636905] |
Chr16:89919033 [GRCh38]
Chr16:89985441 [GRCh37]
Chr16:16q24.3 |
benign |
| NM_002386.4(MC1R):c.-273G>C |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000335746] |
Chr16:89918986 [GRCh38]
Chr16:89985394 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.453C>G (p.Arg151=) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000474083] |
Chr16:89919711 [GRCh38]
Chr16:89986119 [GRCh37]
Chr16:16q24.3 |
benign|likely benign |
| NM_002386.4(MC1R):c.*545C>T |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000336895] |
Chr16:89920757 [GRCh38]
Chr16:89987165 [GRCh37]
Chr16:16q24.3 |
likely benign|uncertain significance |
| NM_002386.4(MC1R):c.*157C>A |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000359206]|not provided [RCV001653569] |
Chr16:89920369 [GRCh38]
Chr16:89986777 [GRCh37]
Chr16:16q24.3 |
benign |
| NM_002386.3(MC1R):c.-536C>T |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000359513] |
Chr16:89918723 [GRCh38]
Chr16:89985131 [GRCh37]
Chr16:16q24.3 |
benign|likely benign |
| NM_002386.4(MC1R):c.948C>T (p.Ser316=) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001082549]|not provided [RCV000458071] |
Chr16:89920206 [GRCh38]
Chr16:89986614 [GRCh37]
Chr16:16q24.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002386.4(MC1R):c.-110A>C |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000341817] |
Chr16:89919149 [GRCh38]
Chr16:89985557 [GRCh37]
Chr16:16q24.3 |
likely benign|uncertain significance |
| NM_002386.3(MC1R):c.-1000G>C |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000397469] |
Chr16:89918259 [GRCh38]
Chr16:89984667 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.*598T>C |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000278218] |
Chr16:89920810 [GRCh38]
Chr16:89987218 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.*380C>G |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000385675] |
Chr16:89920592 [GRCh38]
Chr16:89987000 [GRCh37]
Chr16:16q24.3 |
benign|likely benign |
| NM_002386.4(MC1R):c.*113_*114del |
deletion |
Malignant Melanoma Susceptibility [RCV000267969] |
Chr16:89920324..89920325 [GRCh38]
Chr16:89986732..89986733 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.-374G>A |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000387626] |
Chr16:89918885 [GRCh38]
Chr16:89985293 [GRCh37]
Chr16:16q24.3 |
benign|likely benign |
| NM_002386.4(MC1R):c.*140A>G |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000301971]|not provided [RCV001613029] |
Chr16:89920352 [GRCh38]
Chr16:89986760 [GRCh37]
Chr16:16q24.3 |
benign |
| NM_002386.4(MC1R):c.249G>A (p.Ser83=) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000870725]|not provided [RCV002510856] |
Chr16:89919507 [GRCh38]
Chr16:89985915 [GRCh37]
Chr16:16q24.3 |
likely benign |
| NM_002386.4(MC1R):c.555C>T (p.His185=) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000647351] |
Chr16:89919813 [GRCh38]
Chr16:89986221 [GRCh37]
Chr16:16q24.3 |
benign|likely benign|uncertain significance |
| NM_002386.3(MC1R):c.-465C>G |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000268891] |
Chr16:89918794 [GRCh38]
Chr16:89985202 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.3(MC1R):c.-550G>A |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000304816] |
Chr16:89918709 [GRCh38]
Chr16:89985117 [GRCh37]
Chr16:16q24.3 |
likely benign |
| NM_002386.3(MC1R):c.-1177G>C |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000345622] |
Chr16:89918082 [GRCh38]
Chr16:89984490 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.3(MC1R):c.-1142G>A |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000381829] |
Chr16:89918117 [GRCh38]
Chr16:89984525 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.97G>C (p.Ala33Pro) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000400111] |
Chr16:89919355 [GRCh38]
Chr16:89985763 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.496dup (p.Ala166fs) |
duplication |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000626151] |
Chr16:89919753..89919754 [GRCh38]
Chr16:89986161..89986162 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.*310C>G |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000382463] |
Chr16:89920522 [GRCh38]
Chr16:89986930 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.*696G>C |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000402593] |
Chr16:89920908 [GRCh38]
Chr16:89987316 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.3(MC1R):c.-1307A>C |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000318074] |
Chr16:89917952 [GRCh38]
Chr16:89984360 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.*351T>C |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000333558] |
Chr16:89920563 [GRCh38]
Chr16:89986971 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.-32dup |
duplication |
Malignant Melanoma Susceptibility [RCV000366227] |
Chr16:89919225..89919226 [GRCh38]
Chr16:89985633..89985634 [GRCh37]
Chr16:16q24.3 |
likely benign |
| NM_002386.4(MC1R):c.*620G>T |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000335573] |
Chr16:89920832 [GRCh38]
Chr16:89987240 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.424C>T (p.Arg142Cys) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000551588] |
Chr16:89919682 [GRCh38]
Chr16:89986090 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.3(MC1R):c.-1235A>T |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000321270] |
Chr16:89918024 [GRCh38]
Chr16:89984432 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.3(MC1R):c.-1006G>T |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000351584] |
Chr16:89918253 [GRCh38]
Chr16:89984661 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.853G>A (p.Ala285Thr) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000529931] |
Chr16:89920111 [GRCh38]
Chr16:89986519 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.725C>T (p.Thr242Ile) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000552416] |
Chr16:89919983 [GRCh38]
Chr16:89986391 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.3(MC1R):c.-975G>A |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000338373] |
Chr16:89918284 [GRCh38]
Chr16:89984692 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.3(MC1R):c.-723T>C |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000353613] |
Chr16:89918536 [GRCh38]
Chr16:89984944 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.3(MC1R):c.-1274G>C |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000323755] |
Chr16:89917985 [GRCh38]
Chr16:89984393 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.3(MC1R):c.-988A>C |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000311545] |
Chr16:89918271 [GRCh38]
Chr16:89984679 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.3(MC1R):c.-508C>T |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000327521] |
Chr16:89918751 [GRCh38]
Chr16:89985159 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.-98C>G |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000302066] |
Chr16:89919161 [GRCh38]
Chr16:89985569 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.-101G>T |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000397311] |
Chr16:89919158 [GRCh38]
Chr16:89985566 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.383T>C (p.Met128Thr) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001120965] |
Chr16:89919641 [GRCh38]
Chr16:89986049 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.537dup (p.Ile180fs) |
duplication |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000527730] |
Chr16:89919794..89919795 [GRCh38]
Chr16:89986202..89986203 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.698dup (p.Phe235fs) |
duplication |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000531473] |
Chr16:89919955..89919956 [GRCh38]
Chr16:89986363..89986364 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.265G>C (p.Gly89Arg) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000647345]|Skin and Hair Hypopigmentation [RCV000851260]|Tyrosinase-positive oculocutaneous albinism [RCV000662299]|Tyrosinase-positive oculocutaneous albinism [RCV000764095]|not provided [RCV000523194] |
Chr16:89919523 [GRCh38]
Chr16:89985931 [GRCh37]
Chr16:16q24.3 |
likely pathogenic|uncertain significance |
| NM_002386.3(MC1R):c.-1098C>T |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001120758] |
Chr16:89918161 [GRCh38]
Chr16:89984569 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.3(MC1R):c.-1016C>G |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001120760] |
Chr16:89918243 [GRCh38]
Chr16:89984651 [GRCh37]
Chr16:16q24.3 |
benign |
| NM_002386.4(MC1R):c.766C>T (p.Pro256Ser) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000532822]|Tyrosinase-positive oculocutaneous albinism [RCV000764098]|Tyrosinase-positive oculocutaneous albinism [RCV002250655] |
Chr16:89920024 [GRCh38]
Chr16:89986432 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.613G>A (p.Val205Met) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000555316] |
Chr16:89919871 [GRCh38]
Chr16:89986279 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.133T>C (p.Phe45Leu) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000557168] |
Chr16:89919391 [GRCh38]
Chr16:89985799 [GRCh37]
Chr16:16q24.3 |
benign|likely benign |
| GRCh37/hg19 16q11.2-24.3(chr16:46464488-90155062)x3 |
copy number gain |
See cases [RCV000446110] |
Chr16:46464488..90155062 [GRCh37]
Chr16:16q11.2-24.3 |
pathogenic |
| GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 |
copy number gain |
See cases [RCV000446684] |
Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3 |
pathogenic |
| GRCh37/hg19 16q24.3(chr16:89880964-90133246)x3 |
copy number gain |
See cases [RCV000448757] |
Chr16:89880964..90133246 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.20A>G (p.Gln7Arg) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000463066] |
Chr16:89919278 [GRCh38]
Chr16:89985686 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.444C>T (p.Tyr148=) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001081026] |
Chr16:89919702 [GRCh38]
Chr16:89986110 [GRCh37]
Chr16:16q24.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002386.4(MC1R):c.861C>G (p.Ile287Met) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000463188] |
Chr16:89920119 [GRCh38]
Chr16:89986527 [GRCh37]
Chr16:16q24.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002386.4(MC1R):c.667C>T (p.Arg223Trp) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000470959] |
Chr16:89919925 [GRCh38]
Chr16:89986333 [GRCh37]
Chr16:16q24.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_002386.4(MC1R):c.112G>A (p.Val38Met) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000467503]|Tyrosinase-positive oculocutaneous albinism [RCV000764094] |
Chr16:89919370 [GRCh38]
Chr16:89985778 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.396C>T (p.Leu132=) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000471167] |
Chr16:89919654 [GRCh38]
Chr16:89986062 [GRCh37]
Chr16:16q24.3 |
likely benign |
| NM_002386.4(MC1R):c.832A>G (p.Lys278Glu) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000456425] |
Chr16:89920090 [GRCh38]
Chr16:89986498 [GRCh37]
Chr16:16q24.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_002386.4(MC1R):c.498G>A (p.Ala166=) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000475197] |
Chr16:89919756 [GRCh38]
Chr16:89986164 [GRCh37]
Chr16:16q24.3 |
likely benign |
| NM_002386.4(MC1R):c.861C>T (p.Ile287=) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001471893] |
Chr16:89920119 [GRCh38]
Chr16:89986527 [GRCh37]
Chr16:16q24.3 |
likely benign |
| NM_002386.4(MC1R):c.333G>A (p.Ala111=) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000464878] |
Chr16:89919591 [GRCh38]
Chr16:89985999 [GRCh37]
Chr16:16q24.3 |
benign |
| NM_002386.4(MC1R):c.56C>T (p.Thr19Ile) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000461620] |
Chr16:89919314 [GRCh38]
Chr16:89985722 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.497C>G (p.Ala166Gly) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000469051] |
Chr16:89919755 [GRCh38]
Chr16:89986163 [GRCh37]
Chr16:16q24.3 |
benign|likely benign |
| NM_002386.4(MC1R):c.860T>G (p.Ile287Ser) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000458547] |
Chr16:89920118 [GRCh38]
Chr16:89986526 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.104G>A (p.Cys35Tyr) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001066089]|Tyrosinase-positive oculocutaneous albinism [RCV000764093]|bilateral breast cancer [RCV001004845]|not provided [RCV000493203] |
Chr16:89919362 [GRCh38]
Chr16:89985770 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| GRCh37/hg19 16q23.3-24.3(chr16:82761333-90055381) |
copy number gain |
not provided [RCV000767619] |
Chr16:82761333..90055381 [GRCh37]
Chr16:16q23.3-24.3 |
pathogenic |
| NC_000016.10:g.(?_89761943)_(89920218_?)del |
deletion |
Fanconi anemia [RCV000631041] |
Chr16:89761943..89920218 [GRCh38]
Chr16:89828351..89986626 [GRCh37]
Chr16:16q24.3 |
pathogenic |
| GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1 |
copy number loss |
Poly (ADP-Ribose) polymerase inhibitor response [RCV000626435] |
Chr16:46455960..90354753 [GRCh37]
Chr16:16q11.2-24.3 |
drug response |
| NM_002386.4(MC1R):c.546C>T (p.Tyr182=) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000538438]|not provided [RCV002469195] |
Chr16:89919804 [GRCh38]
Chr16:89986212 [GRCh37]
Chr16:16q24.3 |
likely benign |
| NM_002386.4(MC1R):c.917G>A (p.Arg306His) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000559368]|Tyrosinase-positive oculocutaneous albinism [RCV002250656] |
Chr16:89920175 [GRCh38]
Chr16:89986583 [GRCh37]
Chr16:16q24.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_002386.4(MC1R):c.545_*590del (p.Tyr182fs) |
deletion |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000647343] |
Chr16:89919803..89920802 [GRCh38]
Chr16:89986211..89987210 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.856C>T (p.Leu286Phe) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000647346] |
Chr16:89920114 [GRCh38]
Chr16:89986522 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.3(MC1R):c.496dup (p.Ala166Glyfs) |
duplication |
Cutaneous malignant melanoma 5 [RCV000626151] |
Chr16:89919754 [GRCh38]
Chr16:89986162 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) |
copy number gain |
See cases [RCV000511296] |
Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3 |
pathogenic |
| GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 |
copy number gain |
See cases [RCV000512138] |
Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3 |
pathogenic |
| GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1 |
copy number loss |
Poly (ADP-Ribose) polymerase inhibitor response [RCV000626429] |
Chr16:46497599..90354753 [GRCh37]
Chr16:16q11.2-24.3 |
drug response |
| NM_002386.4(MC1R):c.800G>T (p.Cys267Phe) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000558265] |
Chr16:89920058 [GRCh38]
Chr16:89986466 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.102G>C (p.Arg34=) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001452826] |
Chr16:89919360 [GRCh38]
Chr16:89985768 [GRCh37]
Chr16:16q24.3 |
likely benign |
| NM_002386.4(MC1R):c.118A>C (p.Ile40Leu) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000647347] |
Chr16:89919376 [GRCh38]
Chr16:89985784 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.363C>G (p.Asp121Glu) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000647348]|not provided [RCV002060760] |
Chr16:89919621 [GRCh38]
Chr16:89986029 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.534C>T (p.Leu178=) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000647349] |
Chr16:89919792 [GRCh38]
Chr16:89986200 [GRCh37]
Chr16:16q24.3 |
likely benign |
| NM_002386.4(MC1R):c.294C>T (p.Ile98=) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000647350] |
Chr16:89919552 [GRCh38]
Chr16:89985960 [GRCh37]
Chr16:16q24.3 |
likely benign |
| GRCh37/hg19 16q24.1-24.3(chr16:85838574-90155062)x3 |
copy number gain |
See cases [RCV000512440] |
Chr16:85838574..90155062 [GRCh37]
Chr16:16q24.1-24.3 |
pathogenic |
| GRCh37/hg19 16q23.3-24.3(chr16:83001540-90155062)x3 |
copy number gain |
See cases [RCV000512468] |
Chr16:83001540..90155062 [GRCh37]
Chr16:16q23.3-24.3 |
likely pathogenic |
| NM_002386.4(MC1R):c.484C>T (p.Arg162Trp) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000686875] |
Chr16:89919742 [GRCh38]
Chr16:89986150 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.512C>G (p.Ala171Gly) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV002530596]|Skin and Hair Hypopigmentation [RCV000851261]|Tyrosinase-positive oculocutaneous albinism [RCV000662300] |
Chr16:89919770 [GRCh38]
Chr16:89986178 [GRCh37]
Chr16:16q24.3 |
likely pathogenic|uncertain significance |
| GRCh37/hg19 16q24.3(chr16:89828398-90155062)x3 |
copy number gain |
not provided [RCV000683861] |
Chr16:89828398..90155062 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| GRCh37/hg19 16q23.2-24.3(chr16:79400436-90155062)x3 |
copy number gain |
not provided [RCV000683845] |
Chr16:79400436..90155062 [GRCh37]
Chr16:16q23.2-24.3 |
pathogenic |
| GRCh37/hg19 16q22.2-24.3(chr16:72515938-90155062)x3 |
copy number gain |
not provided [RCV000683831] |
Chr16:72515938..90155062 [GRCh37]
Chr16:16q22.2-24.3 |
pathogenic |
| NM_002386.4(MC1R):c.831C>G (p.Phe277Leu) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000695007] |
Chr16:89920089 [GRCh38]
Chr16:89986497 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.790A>C (p.Ile264Leu) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000706074] |
Chr16:89920048 [GRCh38]
Chr16:89986456 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.670C>T (p.Leu224Phe) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000689293] |
Chr16:89919928 [GRCh38]
Chr16:89986336 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.883C>G (p.Pro295Ala) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000704191] |
Chr16:89920141 [GRCh38]
Chr16:89986549 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.219G>A (p.Met73Ile) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000695096] |
Chr16:89919477 [GRCh38]
Chr16:89985885 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.895G>A (p.Ala299Thr) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000704517]|not provided [RCV003420258] |
Chr16:89920153 [GRCh38]
Chr16:89986561 [GRCh37]
Chr16:16q24.3 |
likely benign|uncertain significance |
| NM_002386.4(MC1R):c.550G>A (p.Asp184Asn) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000695368] |
Chr16:89919808 [GRCh38]
Chr16:89986216 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.836A>G (p.Asn279Ser) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000695672] |
Chr16:89920094 [GRCh38]
Chr16:89986502 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.550G>C (p.Asp184His) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000691446]|not provided [RCV001815430] |
Chr16:89919808 [GRCh38]
Chr16:89986216 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.659G>A (p.Gly220Asp) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000698468] |
Chr16:89919917 [GRCh38]
Chr16:89986325 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 |
copy number gain |
not provided [RCV000738918] |
Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3 |
pathogenic |
| GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 |
copy number gain |
not provided [RCV000738915] |
Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3 |
pathogenic |
| GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 |
copy number gain |
not provided [RCV000738917] |
Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3 |
pathogenic |
| NM_002386.4(MC1R):c.199C>A (p.Arg67=) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001412714] |
Chr16:89919457 [GRCh38]
Chr16:89985865 [GRCh37]
Chr16:16q24.3 |
likely benign |
| NM_002386.4(MC1R):c.842A>G (p.Asn281Ser) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001408987] |
Chr16:89920100 [GRCh38]
Chr16:89986508 [GRCh37]
Chr16:16q24.3 |
likely benign |
| NM_002386.4(MC1R):c.633G>A (p.Leu211=) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000863026] |
Chr16:89919891 [GRCh38]
Chr16:89986299 [GRCh37]
Chr16:16q24.3 |
benign |
| NC_000016.10:g.(?_89778791)_(89920222_?)dup |
duplication |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001031860] |
Chr16:89845199..89986630 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.880G>A (p.Asp294Asn) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001067485] |
Chr16:89920138 [GRCh38]
Chr16:89986546 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NC_000016.10:g.(?_89738591)_(89920222_?)del |
deletion |
Fanconi anemia [RCV001031495] |
Chr16:89804999..89986630 [GRCh37]
Chr16:16q24.3 |
pathogenic |
| NM_002386.3(MC1R):c.-567C>T |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001117259] |
Chr16:89918692 [GRCh38]
Chr16:89985100 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.3(MC1R):c.-952C>T |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001115821] |
Chr16:89918307 [GRCh38]
Chr16:89984715 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.52C>G (p.Pro18Ala) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001115922] |
Chr16:89919310 [GRCh38]
Chr16:89985718 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| GRCh37/hg19 16q24.3(chr16:89970520-90027489)x1 |
copy number loss |
not provided [RCV000751840] |
Chr16:89970520..90027489 [GRCh37]
Chr16:16q24.3 |
benign |
| GRCh37/hg19 16q24.3(chr16:89979494-90015976)x3 |
copy number gain |
not provided [RCV000751843] |
Chr16:89979494..90015976 [GRCh37]
Chr16:16q24.3 |
benign |
| NM_002386.4(MC1R):c.363C>T (p.Asp121=) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001470071] |
Chr16:89919621 [GRCh38]
Chr16:89986029 [GRCh37]
Chr16:16q24.3 |
likely benign |
| NM_002386.4(MC1R):c.465C>T (p.Ile155=) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV002539029] |
Chr16:89919723 [GRCh38]
Chr16:89986131 [GRCh37]
Chr16:16q24.3 |
likely benign |
| NM_002386.4(MC1R):c.576C>G (p.Leu192=) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000869663] |
Chr16:89919834 [GRCh38]
Chr16:89986242 [GRCh37]
Chr16:16q24.3 |
likely benign |
| NM_002386.4(MC1R):c.935T>C (p.Val312Ala) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001405439] |
Chr16:89920193 [GRCh38]
Chr16:89986601 [GRCh37]
Chr16:16q24.3 |
likely benign |
| NM_002386.4(MC1R):c.945C>T (p.Cys315=) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001417385] |
Chr16:89920203 [GRCh38]
Chr16:89986611 [GRCh37]
Chr16:16q24.3 |
likely benign |
| NM_002386.4(MC1R):c.927C>G (p.Leu309=) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001405901] |
Chr16:89920185 [GRCh38]
Chr16:89986593 [GRCh37]
Chr16:16q24.3 |
likely benign |
| NM_002386.4(MC1R):c.213A>G (p.Ser71=) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001486070] |
Chr16:89919471 [GRCh38]
Chr16:89985879 [GRCh37]
Chr16:16q24.3 |
likely benign |
| NM_002386.4(MC1R):c.288C>T (p.Ala96=) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001443481] |
Chr16:89919546 [GRCh38]
Chr16:89985954 [GRCh37]
Chr16:16q24.3 |
likely benign |
| NM_002386.4(MC1R):c.582C>T (p.Val194=) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000868983] |
Chr16:89919840 [GRCh38]
Chr16:89986248 [GRCh37]
Chr16:16q24.3 |
likely benign |
| NC_000016.10:g.(?_89919259)_(89920212_?)del |
deletion |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001033204] |
Chr16:89985667..89986620 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.638G>A (p.Arg213Gln) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001061594] |
Chr16:89919896 [GRCh38]
Chr16:89986304 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.190G>C (p.Ala64Pro) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001062047] |
Chr16:89919448 [GRCh38]
Chr16:89985856 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.334G>A (p.Val112Met) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001042411] |
Chr16:89919592 [GRCh38]
Chr16:89986000 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.898T>G (p.Phe300Val) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001068942] |
Chr16:89920156 [GRCh38]
Chr16:89986564 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.923C>T (p.Thr308Met) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001050742] |
Chr16:89920181 [GRCh38]
Chr16:89986589 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.504C>G (p.Ile168Met) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000800147] |
Chr16:89919762 [GRCh38]
Chr16:89986170 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.416C>G (p.Ala139Gly) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000803548] |
Chr16:89919674 [GRCh38]
Chr16:89986082 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.477G>A (p.Pro159=) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001464420] |
Chr16:89919735 [GRCh38]
Chr16:89986143 [GRCh37]
Chr16:16q24.3 |
likely benign |
| NM_002386.4(MC1R):c.414C>T (p.Ile138=) |
single nucleotide variant |
MC1R-related condition [RCV003892793]|Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000863091] |
Chr16:89919672 [GRCh38]
Chr16:89986080 [GRCh37]
Chr16:16q24.3 |
benign|likely benign |
| NM_002386.4(MC1R):c.949T>C (p.Trp317Arg) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000815450] |
Chr16:89920207 [GRCh38]
Chr16:89986615 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.193A>G (p.Lys65Glu) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000806692] |
Chr16:89919451 [GRCh38]
Chr16:89985859 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.823T>C (p.Cys275Arg) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000810896] |
Chr16:89920081 [GRCh38]
Chr16:89986489 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.804C>T (p.Pro268=) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV003629143] |
Chr16:89920062 [GRCh38]
Chr16:89986470 [GRCh37]
Chr16:16q24.3 |
likely benign |
| NM_002386.4(MC1R):c.310G>A (p.Gly104Ser) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000810656] |
Chr16:89919568 [GRCh38]
Chr16:89985976 [GRCh37]
Chr16:16q24.3 |
likely benign|uncertain significance |
| NM_002386.4(MC1R):c.815_817dup (p.Thr272_Cys273insSer) |
duplication |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000795997] |
Chr16:89920072..89920073 [GRCh38]
Chr16:89986480..89986481 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.951G>T (p.Trp317Cys) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001117581] |
Chr16:89920209 [GRCh38]
Chr16:89986617 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.*13C>T |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001117582] |
Chr16:89920225 [GRCh38]
Chr16:89986633 [GRCh37]
Chr16:16q24.3 |
likely benign |
| NM_002386.4(MC1R):c.854C>G (p.Ala285Gly) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000814815] |
Chr16:89920112 [GRCh38]
Chr16:89986520 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.*59C>G |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001117583] |
Chr16:89920271 [GRCh38]
Chr16:89986679 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.*739A>T |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001116256] |
Chr16:89920951 [GRCh38]
Chr16:89987359 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.241G>C (p.Ala81Pro) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001118991] |
Chr16:89919499 [GRCh38]
Chr16:89985907 [GRCh37]
Chr16:16q24.3 |
benign|likely benign |
| NC_000016.10:g.(?_89919259)_(89920212_?)dup |
duplication |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001031621] |
Chr16:89985667..89986620 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.417C>T (p.Ala139=) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001116040] |
Chr16:89919675 [GRCh38]
Chr16:89986083 [GRCh37]
Chr16:16q24.3 |
likely benign |
| NM_002386.3(MC1R):c.-1125C>T |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001118800] |
Chr16:89918134 [GRCh38]
Chr16:89984542 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.3(MC1R):c.*761C>A |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001116257] |
Chr16:89920973 [GRCh38]
Chr16:89987381 [GRCh37]
Chr16:16q24.3 |
benign |
| NM_002386.3(MC1R):c.-450C>T |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001118893] |
Chr16:89918809 [GRCh38]
Chr16:89985217 [GRCh37]
Chr16:16q24.3 |
benign |
| NM_002386.4(MC1R):c.653C>G (p.Ala218Gly) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001119089] |
Chr16:89919911 [GRCh38]
Chr16:89986319 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.520G>A (p.Val174Ile) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000810962] |
Chr16:89919778 [GRCh38]
Chr16:89986186 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.223T>C (p.Cys75Arg) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000821923] |
Chr16:89919481 [GRCh38]
Chr16:89985889 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.482C>T (p.Ala161Val) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000799393] |
Chr16:89919740 [GRCh38]
Chr16:89986148 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.284C>T (p.Thr95Met) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001082982]|not provided [RCV000863657]|not specified [RCV001701328] |
Chr16:89919542 [GRCh38]
Chr16:89985950 [GRCh37]
Chr16:16q24.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002386.4(MC1R):c.408C>T (p.Gly136=) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001116039] |
Chr16:89919666 [GRCh38]
Chr16:89986074 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.755T>A (p.Leu252His) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001043895] |
Chr16:89920013 [GRCh38]
Chr16:89986421 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.3(MC1R):c.-504G>A |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001118892] |
Chr16:89918755 [GRCh38]
Chr16:89985163 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.859ATC[1] (p.Ile288del) |
microsatellite |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001066004] |
Chr16:89920115..89920117 [GRCh38]
Chr16:89986523..89986525 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.*209C>A |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001119184] |
Chr16:89920421 [GRCh38]
Chr16:89986829 [GRCh37]
Chr16:16q24.3 |
benign |
| NM_002386.3(MC1R):c.-966C>T |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001115820] |
Chr16:89918293 [GRCh38]
Chr16:89984701 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.-13C>T |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001115921] |
Chr16:89919246 [GRCh38]
Chr16:89985654 [GRCh37]
Chr16:16q24.3 |
benign |
| NM_002386.4(MC1R):c.100C>A (p.Arg34=) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001115924] |
Chr16:89919358 [GRCh38]
Chr16:89985766 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.815C>T (p.Thr272Met) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001043219] |
Chr16:89920073 [GRCh38]
Chr16:89986481 [GRCh37]
Chr16:16q24.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_002386.4(MC1R):c.892T>C (p.Tyr298His) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001227007] |
Chr16:89920150 [GRCh38]
Chr16:89986558 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.640G>A (p.Ala214Thr) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001224531] |
Chr16:89919898 [GRCh38]
Chr16:89986306 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.10C>T (p.Gln4Ter) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001241106] |
Chr16:89919268 [GRCh38]
Chr16:89985676 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.837C>A (p.Asn279Lys) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001246476] |
Chr16:89920095 [GRCh38]
Chr16:89986503 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.104G>T (p.Cys35Phe) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001219217] |
Chr16:89919362 [GRCh38]
Chr16:89985770 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.54del (p.Thr19fs) |
deletion |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001208045] |
Chr16:89919308 [GRCh38]
Chr16:89985716 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.561C>T (p.Ala187=) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV002611845] |
Chr16:89919819 [GRCh38]
Chr16:89986227 [GRCh37]
Chr16:16q24.3 |
likely benign|uncertain significance |
| NM_002386.4(MC1R):c.*2C>T |
single nucleotide variant |
not provided [RCV000996419] |
Chr16:89920214 [GRCh38]
Chr16:89986622 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.869A>G (p.Asn290Ser) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001116148] |
Chr16:89920127 [GRCh38]
Chr16:89986535 [GRCh37]
Chr16:16q24.3 |
benign|conflicting interpretations of pathogenicity |
| NM_002386.4(MC1R):c.628A>G (p.Met210Val) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001119088] |
Chr16:89919886 [GRCh38]
Chr16:89986294 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.3(MC1R):c.-1243G>A |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001117168] |
Chr16:89918016 [GRCh38]
Chr16:89984424 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.621C>T (p.Tyr207=) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV002072959]|not provided [RCV001639835] |
Chr16:89919879 [GRCh38]
Chr16:89986287 [GRCh37]
Chr16:16q24.3 |
benign|likely benign |
| NC_000016.10:g.89917680_89917681del |
deletion |
not provided [RCV001677783] |
Chr16:89917680..89917681 [GRCh38]
Chr16:89984088..89984089 [GRCh37]
Chr16:16q24.3 |
benign |
| NM_002386.4(MC1R):c.492C>T (p.Ala164=) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000862142] |
Chr16:89919750 [GRCh38]
Chr16:89986158 [GRCh37]
Chr16:16q24.3 |
likely benign|conflicting interpretations of pathogenicity |
| NM_002386.4(MC1R):c.417C>G (p.Ala139=) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV000862824] |
Chr16:89919675 [GRCh38]
Chr16:89986083 [GRCh37]
Chr16:16q24.3 |
likely benign |
| NM_002386.4(MC1R):c.140G>T (p.Ser47Ile) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV002064458] |
Chr16:89919398 [GRCh38]
Chr16:89985806 [GRCh37]
Chr16:16q24.3 |
likely benign |
| NM_002386.4(MC1R):c.255G>C (p.Leu85=) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001444788] |
Chr16:89919513 [GRCh38]
Chr16:89985921 [GRCh37]
Chr16:16q24.3 |
likely benign |
| NM_002386.4(MC1R):c.292A>G (p.Ile98Val) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001210590] |
Chr16:89919550 [GRCh38]
Chr16:89985958 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.815_826del (p.Thr272_Cys275del) |
deletion |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001207565] |
Chr16:89920071..89920082 [GRCh38]
Chr16:89986479..89986490 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.577G>A (p.Val193Met) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001244564]|Tyrosinase-positive oculocutaneous albinism [RCV002499414] |
Chr16:89919835 [GRCh38]
Chr16:89986243 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.920_923delinsCT (p.Arg307fs) |
indel |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001243564] |
Chr16:89920178..89920181 [GRCh38]
Chr16:89986586..89986589 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.3(MC1R):c.-1371C>G |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001115738] |
Chr16:89917888 [GRCh38]
Chr16:89984296 [GRCh37]
Chr16:16q24.3 |
benign |
| NM_002386.4(MC1R):c.66C>T (p.Pro22=) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001115923] |
Chr16:89919324 [GRCh38]
Chr16:89985732 [GRCh37]
Chr16:16q24.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_002386.4(MC1R):c.-350C>G |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001120854] |
Chr16:89918909 [GRCh38]
Chr16:89985317 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.*377G>C |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001121177] |
Chr16:89920589 [GRCh38]
Chr16:89986997 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.512C>A (p.Ala171Asp) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001225592] |
Chr16:89919770 [GRCh38]
Chr16:89986178 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.487C>T (p.Arg163Ter) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001066438] |
Chr16:89919745 [GRCh38]
Chr16:89986153 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.-344C>T |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001120855] |
Chr16:89918915 [GRCh38]
Chr16:89985323 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.677A>G (p.Lys226Arg) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001121052] |
Chr16:89919935 [GRCh38]
Chr16:89986343 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.707G>A (p.Gly236Asp) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001121053] |
Chr16:89919965 [GRCh38]
Chr16:89986373 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.*683A>G |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001121178] |
Chr16:89920895 [GRCh38]
Chr16:89987303 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NC_000016.10:g.89917760C>A |
single nucleotide variant |
not provided [RCV001708768] |
Chr16:89917760 [GRCh38]
Chr16:89984168 [GRCh37]
Chr16:16q24.3 |
benign |
| NM_002386.4(MC1R):c.409G>A (p.Ala137Thr) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001048667] |
Chr16:89919667 [GRCh38]
Chr16:89986075 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.3(MC1R):c.-722G>C |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001117258] |
Chr16:89918537 [GRCh38]
Chr16:89984945 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.467T>C (p.Val156Ala) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001035581]|not provided [RCV003736962] |
Chr16:89919725 [GRCh38]
Chr16:89986133 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.100C>T (p.Arg34Trp) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001117379] |
Chr16:89919358 [GRCh38]
Chr16:89985766 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.124G>C (p.Asp42His) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001117380] |
Chr16:89919382 [GRCh38]
Chr16:89985790 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.188T>C (p.Ile63Thr) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001235960] |
Chr16:89919446 [GRCh38]
Chr16:89985854 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.23G>A (p.Arg8Lys) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001035943] |
Chr16:89919281 [GRCh38]
Chr16:89985689 [GRCh37]
Chr16:16q24.3 |
likely benign|uncertain significance |
| NM_002386.3(MC1R):c.-1092G>A |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001120759] |
Chr16:89918167 [GRCh38]
Chr16:89984575 [GRCh37]
Chr16:16q24.3 |
benign |
| NM_002386.4(MC1R):c.326G>A (p.Arg109Gln) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001120964] |
Chr16:89919584 [GRCh38]
Chr16:89985992 [GRCh37]
Chr16:16q24.3 |
likely benign|conflicting interpretations of pathogenicity |
| NM_002386.3(MC1R):c.-1157A>C |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001118798] |
Chr16:89918102 [GRCh38]
Chr16:89984510 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.3(MC1R):c.-951G>A |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001115822] |
Chr16:89918308 [GRCh38]
Chr16:89984716 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.98C>T (p.Ala33Val) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001055701] |
Chr16:89919356 [GRCh38]
Chr16:89985764 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.45C>G (p.Asn15Lys) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001203109] |
Chr16:89919303 [GRCh38]
Chr16:89985711 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3 |
copy number gain |
not provided [RCV001249359] |
Chr16:61524229..90155062 [GRCh37]
Chr16:16q21-24.3 |
not provided |
| NM_002386.4(MC1R):c.625C>T (p.His209Tyr) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001214538] |
Chr16:89919883 [GRCh38]
Chr16:89986291 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.3(MC1R):c.-1230C>T |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001118797] |
Chr16:89918029 [GRCh38]
Chr16:89984437 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.3(MC1R):c.-1143C>T |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001118799] |
Chr16:89918116 [GRCh38]
Chr16:89984524 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.127G>A (p.Gly43Arg) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001051581] |
Chr16:89919385 [GRCh38]
Chr16:89985793 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.*76C>T |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001119183] |
Chr16:89920288 [GRCh38]
Chr16:89986696 [GRCh37]
Chr16:16q24.3 |
benign |
| NM_002386.4(MC1R):c.664G>A (p.Ala222Thr) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001231132] |
Chr16:89919922 [GRCh38]
Chr16:89986330 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.3(MC1R):c.-784A>G |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001115823] |
Chr16:89918475 [GRCh38]
Chr16:89984883 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.779A>T (p.His260Leu) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001121054] |
Chr16:89920037 [GRCh38]
Chr16:89986445 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.143T>C (p.Leu48Pro) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001063041] |
Chr16:89919401 [GRCh38]
Chr16:89985809 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.764G>A (p.Gly255Asp) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001204319] |
Chr16:89920022 [GRCh38]
Chr16:89986430 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.76C>G (p.Leu26Val) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001216004] |
Chr16:89919334 [GRCh38]
Chr16:89985742 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.544_*593del (p.Tyr182fs) |
deletion |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001063275] |
Chr16:89919799..89920802 [GRCh38]
Chr16:89986207..89987210 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| GRCh37/hg19 16q24.3(chr16:89499489-90125146)x3 |
copy number gain |
not provided [RCV001259286] |
Chr16:89499489..90125146 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| GRCh37/hg19 16q24.3(chr16:89156662-90023446)x3 |
copy number gain |
not provided [RCV001258667] |
Chr16:89156662..90023446 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| GRCh37/hg19 16q24.2-24.3(chr16:88222732-90155062)x3 |
copy number gain |
not provided [RCV001258663] |
Chr16:88222732..90155062 [GRCh37]
Chr16:16q24.2-24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.820G>A (p.Gly274Ser) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001305628] |
Chr16:89920078 [GRCh38]
Chr16:89986486 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.668G>A (p.Arg223Gln) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001308959] |
Chr16:89919926 [GRCh38]
Chr16:89986334 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.946T>C (p.Ser316Pro) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001296847] |
Chr16:89920204 [GRCh38]
Chr16:89986612 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.813del (p.Thr272fs) |
deletion |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001319926] |
Chr16:89920068 [GRCh38]
Chr16:89986476 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.896C>T (p.Ala299Val) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001299110] |
Chr16:89920154 [GRCh38]
Chr16:89986562 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.916C>T (p.Arg306Cys) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001317747] |
Chr16:89920174 [GRCh38]
Chr16:89986582 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.169dup (p.Ala57fs) |
duplication |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001313042] |
Chr16:89919426..89919427 [GRCh38]
Chr16:89985834..89985835 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NC_000016.9:g.(?_89986209)_89987212del |
deletion |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001372244] |
|
uncertain significance |
| NM_002386.4(MC1R):c.313G>A (p.Ala105Thr) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001361342]|Tyrosinase-positive oculocutaneous albinism [RCV002488099] |
Chr16:89919571 [GRCh38]
Chr16:89985979 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.664G>T (p.Ala222Ser) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001342501] |
Chr16:89919922 [GRCh38]
Chr16:89986330 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.493G>A (p.Val165Ile) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001305767] |
Chr16:89919751 [GRCh38]
Chr16:89986159 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.925C>G (p.Leu309Val) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001302236] |
Chr16:89920183 [GRCh38]
Chr16:89986591 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.424C>A (p.Arg142Ser) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001317063] |
Chr16:89919682 [GRCh38]
Chr16:89986090 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.862A>G (p.Ile288Val) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001342930] |
Chr16:89920120 [GRCh38]
Chr16:89986528 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.445G>A (p.Ala149Thr) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001340191] |
Chr16:89919703 [GRCh38]
Chr16:89986111 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NC_000016.9:g.(?_89985667)_(89986620_?)dup |
duplication |
Cutaneous malignant melanoma 5 [RCV001313862] |
Chr16:89985667..89986620 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.803C>T (p.Pro268Leu) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001306469] |
Chr16:89920061 [GRCh38]
Chr16:89986469 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.727C>G (p.Leu243Val) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001318148] |
Chr16:89919985 [GRCh38]
Chr16:89986393 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.476C>T (p.Pro159Leu) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001340456] |
Chr16:89919734 [GRCh38]
Chr16:89986142 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NC_000016.9:g.(?_89986211)_89987210del |
deletion |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001300100] |
|
uncertain significance |
| NM_002386.4(MC1R):c.7G>A (p.Val3Met) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001316714] |
Chr16:89919265 [GRCh38]
Chr16:89985673 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.803C>G (p.Pro268Arg) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001307702]|Tyrosinase-positive oculocutaneous albinism [RCV002504466] |
Chr16:89920061 [GRCh38]
Chr16:89986469 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.840del (p.Phe280fs) |
deletion |
Skin/hair/eye pigmentation, variation in, 2 [RCV001310272] |
Chr16:89920098 [GRCh38]
Chr16:89986506 [GRCh37]
Chr16:16q24.3 |
pathogenic|likely pathogenic |
| NM_002386.4(MC1R):c.698A>C (p.Gln233Pro) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001370537] |
Chr16:89919956 [GRCh38]
Chr16:89986364 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.372C>G (p.Thr124=) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001475146] |
Chr16:89919630 [GRCh38]
Chr16:89986038 [GRCh37]
Chr16:16q24.3 |
likely benign |
| NM_002386.4(MC1R):c.852C>T (p.Leu284=) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001490916] |
Chr16:89920110 [GRCh38]
Chr16:89986518 [GRCh37]
Chr16:16q24.3 |
likely benign |
| NM_002386.4(MC1R):c.401T>C (p.Phe134Ser) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001521515] |
Chr16:89919659 [GRCh38]
Chr16:89986067 [GRCh37]
Chr16:16q24.3 |
benign |
| NM_002386.4(MC1R):c.366G>A (p.Val122=) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001481220] |
Chr16:89919624 [GRCh38]
Chr16:89986032 [GRCh37]
Chr16:16q24.3 |
likely benign |
| NM_002386.4(MC1R):c.48C>T (p.Ser16=) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001448445] |
Chr16:89919306 [GRCh38]
Chr16:89985714 [GRCh37]
Chr16:16q24.3 |
likely benign |
| NM_002386.4(MC1R):c.540C>T (p.Ile180=) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001409429] |
Chr16:89919798 [GRCh38]
Chr16:89986206 [GRCh37]
Chr16:16q24.3 |
likely benign |
| NM_002386.4(MC1R):c.357C>A (p.Val119=) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001404555] |
Chr16:89919615 [GRCh38]
Chr16:89986023 [GRCh37]
Chr16:16q24.3 |
likely benign |
| NM_002386.4(MC1R):c.207G>A (p.Leu69=) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001449149] |
Chr16:89919465 [GRCh38]
Chr16:89985873 [GRCh37]
Chr16:16q24.3 |
likely benign |
| NM_002386.4(MC1R):c.285G>A (p.Thr95=) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001468780] |
Chr16:89919543 [GRCh38]
Chr16:89985951 [GRCh37]
Chr16:16q24.3 |
likely benign |
| NM_002386.4(MC1R):c.897C>T (p.Ala299=) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001506621] |
Chr16:89920155 [GRCh38]
Chr16:89986563 [GRCh37]
Chr16:16q24.3 |
likely benign |
| NM_002386.4(MC1R):c.504C>T (p.Ile168=) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV002073013]|not provided [RCV001654997] |
Chr16:89919762 [GRCh38]
Chr16:89986170 [GRCh37]
Chr16:16q24.3 |
benign |
| NM_002386.4(MC1R):c.795C>T (p.Val265=) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001522836] |
Chr16:89920053 [GRCh38]
Chr16:89986461 [GRCh37]
Chr16:16q24.3 |
benign |
| NM_002386.4(MC1R):c.816G>A (p.Thr272=) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001405892] |
Chr16:89920074 [GRCh38]
Chr16:89986482 [GRCh37]
Chr16:16q24.3 |
likely benign |
| NM_002386.4(MC1R):c.549C>T (p.Tyr183=) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001460763] |
Chr16:89919807 [GRCh38]
Chr16:89986215 [GRCh37]
Chr16:16q24.3 |
likely benign |
| NM_002386.4(MC1R):c.63C>T (p.Ile21=) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001467731] |
Chr16:89919321 [GRCh38]
Chr16:89985729 [GRCh37]
Chr16:16q24.3 |
likely benign |
| NM_002386.4(MC1R):c.612C>T (p.Ala204=) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001427759]|not provided [RCV001685354] |
Chr16:89919870 [GRCh38]
Chr16:89986278 [GRCh37]
Chr16:16q24.3 |
benign|likely benign |
| NM_002386.4(MC1R):c.663C>T (p.Ile221=) |
single nucleotide variant |
MC1R-related condition [RCV003938675]|Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001400564] |
Chr16:89919921 [GRCh38]
Chr16:89986329 [GRCh37]
Chr16:16q24.3 |
likely benign |
| NC_000016.9:g.(?_87636753)_(90109753_?)dup |
duplication |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV003119313]|Primary ciliary dyskinesia 33 [RCV003109228] |
Chr16:87636753..90109753 [GRCh37]
Chr16:16q24.2-24.3 |
uncertain significance |
| GRCh37/hg19 16q23.2-24.3(chr16:80386595-90163348)x3 |
copy number gain |
not provided [RCV001795551] |
Chr16:80386595..90163348 [GRCh37]
Chr16:16q23.2-24.3 |
pathogenic |
| NM_002386.4(MC1R):c.294CCT[1] (p.Leu101del) |
microsatellite |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001896845] |
Chr16:89919551..89919553 [GRCh38]
Chr16:89985959..89985961 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.389C>G (p.Ser130Cys) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001928180] |
Chr16:89919647 [GRCh38]
Chr16:89986055 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.562G>A (p.Val188Ile) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001889142] |
Chr16:89919820 [GRCh38]
Chr16:89986228 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.954_*8del (p.Ter318Xaa) |
deletion |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001946370] |
Chr16:89920208..89920216 [GRCh38]
Chr16:89986616..89986624 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| GRCh37/hg19 16q24.2-24.3(chr16:88000389-90155062)x3 |
copy number gain |
not provided [RCV001829158] |
Chr16:88000389..90155062 [GRCh37]
Chr16:16q24.2-24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.415G>A (p.Ala139Thr) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV002043190] |
Chr16:89919673 [GRCh38]
Chr16:89986081 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.199C>T (p.Arg67Trp) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001908324] |
Chr16:89919457 [GRCh38]
Chr16:89985865 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.205C>G (p.Leu69Val) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001891081] |
Chr16:89919463 [GRCh38]
Chr16:89985871 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.719C>T (p.Ala240Val) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001910636] |
Chr16:89919977 [GRCh38]
Chr16:89986385 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.392G>A (p.Ser131Asn) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV002006184] |
Chr16:89919650 [GRCh38]
Chr16:89986058 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.687_690dup (p.Val231fs) |
duplication |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV002042892] |
Chr16:89919942..89919943 [GRCh38]
Chr16:89986350..89986351 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.262A>G (p.Ser88Gly) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001913757] |
Chr16:89919520 [GRCh38]
Chr16:89985928 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.895G>T (p.Ala299Ser) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001984984] |
Chr16:89920153 [GRCh38]
Chr16:89986561 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.944G>C (p.Cys315Ser) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001947533] |
Chr16:89920202 [GRCh38]
Chr16:89986610 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.914T>G (p.Leu305Arg) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV002004939] |
Chr16:89920172 [GRCh38]
Chr16:89986580 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.331G>A (p.Ala111Thr) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV002006479] |
Chr16:89919589 [GRCh38]
Chr16:89985997 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.44A>C (p.Asn15Thr) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001946134] |
Chr16:89919302 [GRCh38]
Chr16:89985710 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| GRCh37/hg19 16q24.3(chr16:89337891-90155062)x3 |
copy number gain |
not provided [RCV001827759] |
Chr16:89337891..90155062 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.159G>C (p.Leu53Phe) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001998579] |
Chr16:89919417 [GRCh38]
Chr16:89985825 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.662T>C (p.Ile221Thr) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001882056] |
Chr16:89919920 [GRCh38]
Chr16:89986328 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.190G>A (p.Ala64Thr) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV002017735] |
Chr16:89919448 [GRCh38]
Chr16:89985856 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.664G>C (p.Ala222Pro) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001997288] |
Chr16:89919922 [GRCh38]
Chr16:89986330 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.74G>A (p.Gly25Glu) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001944340] |
Chr16:89919332 [GRCh38]
Chr16:89985740 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.608T>C (p.Met203Thr) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV002017057] |
Chr16:89919866 [GRCh38]
Chr16:89986274 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.623T>C (p.Val208Ala) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001958250] |
Chr16:89919881 [GRCh38]
Chr16:89986289 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.622G>T (p.Val208Phe) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001906028] |
Chr16:89919880 [GRCh38]
Chr16:89986288 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.418G>A (p.Val140Met) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001962122] |
Chr16:89919676 [GRCh38]
Chr16:89986084 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.265G>A (p.Gly89Arg) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001963599] |
Chr16:89919523 [GRCh38]
Chr16:89985931 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.35G>A (p.Gly12Asp) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001930845] |
Chr16:89919293 [GRCh38]
Chr16:89985701 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.753C>A (p.Phe251Leu) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001933569] |
Chr16:89920011 [GRCh38]
Chr16:89986419 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.865T>C (p.Cys289Arg) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001955767]|not provided [RCV003738116] |
Chr16:89920123 [GRCh38]
Chr16:89986531 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.146G>A (p.Gly49Glu) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001916466] |
Chr16:89919404 [GRCh38]
Chr16:89985812 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.319del (p.Val107fs) |
deletion |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001867349] |
Chr16:89919576 [GRCh38]
Chr16:89985984 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.664_665delinsTA (p.Ala222Tyr) |
indel |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001935919] |
Chr16:89919922..89919923 [GRCh38]
Chr16:89986330..89986331 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.175G>T (p.Val59Leu) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001976121] |
Chr16:89919433 [GRCh38]
Chr16:89985841 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.406G>T (p.Gly136Cys) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001955157] |
Chr16:89919664 [GRCh38]
Chr16:89986072 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.217A>G (p.Met73Val) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001922058] |
Chr16:89919475 [GRCh38]
Chr16:89985883 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.497C>T (p.Ala166Val) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV002013034] |
Chr16:89919755 [GRCh38]
Chr16:89986163 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.190_191insTGGAGAACGCGCTGGTGGTGGCCACCGTCG (p.Ile63_Ala64insValGluAsnAlaLeuValValAlaThrVal) |
insertion |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001922587] |
Chr16:89919445..89919446 [GRCh38]
Chr16:89985853..89985854 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.787C>T (p.Leu263Phe) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001907094] |
Chr16:89920045 [GRCh38]
Chr16:89986453 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.724A>G (p.Thr242Ala) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001936560] |
Chr16:89919982 [GRCh38]
Chr16:89986390 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.152T>C (p.Val51Ala) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001865063] |
Chr16:89919410 [GRCh38]
Chr16:89985818 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.786_787del (p.Leu263fs) |
microsatellite |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001938859] |
Chr16:89920041..89920042 [GRCh38]
Chr16:89986449..89986450 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.761G>A (p.Trp254Ter) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001925479] |
Chr16:89920019 [GRCh38]
Chr16:89986427 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.508G>A (p.Val170Met) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001999193] |
Chr16:89919766 [GRCh38]
Chr16:89986174 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.551A>C (p.Asp184Ala) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001900096] |
Chr16:89919809 [GRCh38]
Chr16:89986217 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.670_691del (p.Leu224fs) |
deletion |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV002010026] |
Chr16:89919921..89919942 [GRCh38]
Chr16:89986329..89986350 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.718G>A (p.Ala240Thr) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001979889] |
Chr16:89919976 [GRCh38]
Chr16:89986384 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.123dup (p.Asp42Ter) |
duplication |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001884883] |
Chr16:89919380..89919381 [GRCh38]
Chr16:89985788..89985789 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.208C>T (p.His70Tyr) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV002010449] |
Chr16:89919466 [GRCh38]
Chr16:89985874 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.593C>T (p.Ala198Val) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV001933045] |
Chr16:89919851 [GRCh38]
Chr16:89986259 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.805G>A (p.Glu269Lys) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV002014485] |
Chr16:89920063 [GRCh38]
Chr16:89986471 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.168C>T (p.Asn56=) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV002105785] |
Chr16:89919426 [GRCh38]
Chr16:89985834 [GRCh37]
Chr16:16q24.3 |
likely benign |
| NM_002386.4(MC1R):c.450G>C (p.Leu150=) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV002088150] |
Chr16:89919708 [GRCh38]
Chr16:89986116 [GRCh37]
Chr16:16q24.3 |
likely benign |
| NM_002386.4(MC1R):c.615G>A (p.Val205=) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV002168484] |
Chr16:89919873 [GRCh38]
Chr16:89986281 [GRCh37]
Chr16:16q24.3 |
likely benign |
| NM_002386.4(MC1R):c.690G>A (p.Pro230=) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV002205645] |
Chr16:89919948 [GRCh38]
Chr16:89986356 [GRCh37]
Chr16:16q24.3 |
likely benign |
| NM_002386.4(MC1R):c.150G>A (p.Leu50=) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV002134552] |
Chr16:89919408 [GRCh38]
Chr16:89985816 [GRCh37]
Chr16:16q24.3 |
likely benign |
| NM_002386.4(MC1R):c.483G>A (p.Ala161=) |
single nucleotide variant |
MC1R-related condition [RCV003968858]|Melanoma, cutaneous malignant, susceptibility to, 5 [RCV002097447] |
Chr16:89919741 [GRCh38]
Chr16:89986149 [GRCh37]
Chr16:16q24.3 |
likely benign |
| NM_002386.4(MC1R):c.171G>A (p.Ala57=) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV002132573] |
Chr16:89919429 [GRCh38]
Chr16:89985837 [GRCh37]
Chr16:16q24.3 |
likely benign |
| NM_002386.4(MC1R):c.726C>T (p.Thr242=) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV002145867] |
Chr16:89919984 [GRCh38]
Chr16:89986392 [GRCh37]
Chr16:16q24.3 |
likely benign |
| NM_002386.4(MC1R):c.423C>T (p.Asp141=) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV002114690] |
Chr16:89919681 [GRCh38]
Chr16:89986089 [GRCh37]
Chr16:16q24.3 |
likely benign |
| NM_002386.4(MC1R):c.879C>T (p.Ile293=) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV002173739] |
Chr16:89920137 [GRCh38]
Chr16:89986545 [GRCh37]
Chr16:16q24.3 |
likely benign |
| NM_002386.4(MC1R):c.510G>A (p.Val170=) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV002153051] |
Chr16:89919768 [GRCh38]
Chr16:89986176 [GRCh37]
Chr16:16q24.3 |
likely benign |
| NM_002386.4(MC1R):c.687C>T (p.Arg229=) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV002121158] |
Chr16:89919945 [GRCh38]
Chr16:89986353 [GRCh37]
Chr16:16q24.3 |
likely benign |
| NM_002386.4(MC1R):c.126C>T (p.Asp42=) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV002160370] |
Chr16:89919384 [GRCh38]
Chr16:89985792 [GRCh37]
Chr16:16q24.3 |
likely benign |
| NM_002386.4(MC1R):c.330T>C (p.Ala110=) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV002142020] |
Chr16:89919588 [GRCh38]
Chr16:89985996 [GRCh37]
Chr16:16q24.3 |
likely benign |
| NM_002386.4(MC1R):c.828C>T (p.Ile276=) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV002120277] |
Chr16:89920086 [GRCh38]
Chr16:89986494 [GRCh37]
Chr16:16q24.3 |
likely benign |
| NM_002386.4(MC1R):c.924G>A (p.Thr308=) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV002157287] |
Chr16:89920182 [GRCh38]
Chr16:89986590 [GRCh37]
Chr16:16q24.3 |
likely benign |
| NM_002386.4(MC1R):c.513C>T (p.Ala171=) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV002218008] |
Chr16:89919771 [GRCh38]
Chr16:89986179 [GRCh37]
Chr16:16q24.3 |
likely benign |
| NM_002386.4(MC1R):c.318G>T (p.Leu106=) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV002103314] |
Chr16:89919576 [GRCh38]
Chr16:89985984 [GRCh37]
Chr16:16q24.3 |
likely benign |
| NM_002386.4(MC1R):c.459C>T (p.His153=) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV002104121] |
Chr16:89919717 [GRCh38]
Chr16:89986125 [GRCh37]
Chr16:16q24.3 |
likely benign |
| GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3 |
copy number gain |
not provided [RCV002221458] |
Chr16:46503968..90155062 [GRCh37]
Chr16:16q11.2-24.3 |
pathogenic |
| NM_002386.4(MC1R):c.238C>T (p.Leu80=) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV002102409] |
Chr16:89919496 [GRCh38]
Chr16:89985904 [GRCh37]
Chr16:16q24.3 |
likely benign |
| NM_002386.4(MC1R):c.598C>T (p.Leu200=) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV002138344] |
Chr16:89919856 [GRCh38]
Chr16:89986264 [GRCh37]
Chr16:16q24.3 |
likely benign |
| NM_002386.4(MC1R):c.452G>A (p.Arg151His) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV003114156] |
Chr16:89919710 [GRCh38]
Chr16:89986118 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.157T>C (p.Leu53=) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV003116039] |
Chr16:89919415 [GRCh38]
Chr16:89985823 [GRCh37]
Chr16:16q24.3 |
likely benign |
| NM_002386.4(MC1R):c.951dup (p.Ter318ValextTer?) |
duplication |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV003115732] |
Chr16:89920207..89920208 [GRCh38]
Chr16:89986615..89986616 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NC_000016.9:g.(?_89611036)_(90106937_?)dup |
duplication |
Fanconi anemia [RCV003119385] |
Chr16:89611036..90106937 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| GRCh37/hg19 16q22.2-24.3(chr16:71641395-90161959)x3 |
copy number gain |
Syndromic anorectal malformation [RCV002286607] |
Chr16:71641395..90161959 [GRCh37]
Chr16:16q22.2-24.3 |
likely pathogenic |
| NC_000016.10:g.89918089C>G |
single nucleotide variant |
not provided [RCV002265144] |
Chr16:89918089 [GRCh38]
Chr16:89984497 [GRCh37]
Chr16:16q24.3 |
likely benign |
| NM_002386.4(MC1R):c.96_102del (p.Arg34fs) |
deletion |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV002881098] |
Chr16:89919352..89919358 [GRCh38]
Chr16:89985760..89985766 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.267G>A (p.Gly89=) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV002908842] |
Chr16:89919525 [GRCh38]
Chr16:89985933 [GRCh37]
Chr16:16q24.3 |
likely benign |
| NM_002386.4(MC1R):c.753C>T (p.Phe251=) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV003075849] |
Chr16:89920011 [GRCh38]
Chr16:89986419 [GRCh37]
Chr16:16q24.3 |
benign |
| NM_002386.4(MC1R):c.855C>T (p.Ala285=) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV002996482] |
Chr16:89920113 [GRCh38]
Chr16:89986521 [GRCh37]
Chr16:16q24.3 |
likely benign |
| NM_002386.4(MC1R):c.542C>G (p.Ala181Gly) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV003075707] |
Chr16:89919800 [GRCh38]
Chr16:89986208 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.210C>T (p.His70=) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV002842070] |
Chr16:89919468 [GRCh38]
Chr16:89985876 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.676A>T (p.Lys226Ter) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV002994841] |
Chr16:89919934 [GRCh38]
Chr16:89986342 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.864C>G (p.Ile288Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002995818]|Melanoma, cutaneous malignant, susceptibility to, 5 [RCV002995817] |
Chr16:89920122 [GRCh38]
Chr16:89986530 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.568C>T (p.Leu190=) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV003075992] |
Chr16:89919826 [GRCh38]
Chr16:89986234 [GRCh37]
Chr16:16q24.3 |
likely benign |
| NM_002386.4(MC1R):c.951G>A (p.Trp317Ter) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV003034245] |
Chr16:89920209 [GRCh38]
Chr16:89986617 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.357C>T (p.Val119=) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV002771087] |
Chr16:89919615 [GRCh38]
Chr16:89986023 [GRCh37]
Chr16:16q24.3 |
likely benign |
| NM_002386.4(MC1R):c.22AGA[1] (p.Arg9del) |
microsatellite |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV002870861] |
Chr16:89919280..89919282 [GRCh38]
Chr16:89985688..89985690 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.136C>T (p.Leu46Phe) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV002953804] |
Chr16:89919394 [GRCh38]
Chr16:89985802 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.939G>C (p.Leu313=) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV002953509] |
Chr16:89920197 [GRCh38]
Chr16:89986605 [GRCh37]
Chr16:16q24.3 |
likely benign |
| NM_002386.4(MC1R):c.548A>G (p.Tyr183Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002844586] |
Chr16:89919806 [GRCh38]
Chr16:89986214 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.868A>T (p.Asn290Tyr) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV002619887] |
Chr16:89920126 [GRCh38]
Chr16:89986534 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.661A>G (p.Ile221Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002738316] |
Chr16:89919919 [GRCh38]
Chr16:89986327 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.873C>T (p.Ala291=) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV002569656] |
Chr16:89920131 [GRCh38]
Chr16:89986539 [GRCh37]
Chr16:16q24.3 |
likely benign |
| NM_002386.4(MC1R):c.122C>G (p.Ser41Cys) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV002886412] |
Chr16:89919380 [GRCh38]
Chr16:89985788 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.730A>G (p.Thr244Ala) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV003019744] |
Chr16:89919988 [GRCh38]
Chr16:89986396 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.743G>A (p.Gly248Asp) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV002766617] |
Chr16:89920001 [GRCh38]
Chr16:89986409 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.4G>T (p.Ala2Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002850113]|Melanoma, cutaneous malignant, susceptibility to, 5 [RCV003629242] |
Chr16:89919262 [GRCh38]
Chr16:89985670 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.11A>T (p.Gln4Leu) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV002574161] |
Chr16:89919269 [GRCh38]
Chr16:89985677 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.541G>A (p.Ala181Thr) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV002917228] |
Chr16:89919799 [GRCh38]
Chr16:89986207 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.530C>T (p.Thr177Met) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV002894899] |
Chr16:89919788 [GRCh38]
Chr16:89986196 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.634G>T (p.Ala212Ser) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV002710854] |
Chr16:89919892 [GRCh38]
Chr16:89986300 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.602T>C (p.Val201Ala) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV002982771] |
Chr16:89919860 [GRCh38]
Chr16:89986268 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.350A>G (p.Asp117Gly) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV003058513] |
Chr16:89919608 [GRCh38]
Chr16:89986016 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.769TTC[1] (p.Phe258del) |
microsatellite |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV002890920] |
Chr16:89920026..89920028 [GRCh38]
Chr16:89986434..89986436 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.840C>A (p.Phe280Leu) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV002800636] |
Chr16:89920098 [GRCh38]
Chr16:89986506 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.833A>G (p.Lys278Arg) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV003064911] |
Chr16:89920091 [GRCh38]
Chr16:89986499 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.189C>G (p.Ile63Met) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV002856363] |
Chr16:89919447 [GRCh38]
Chr16:89985855 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.209A>C (p.His70Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002635736]|Melanoma, cutaneous malignant, susceptibility to, 5 [RCV002649565] |
Chr16:89919467 [GRCh38]
Chr16:89985875 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.584_585delinsAG (p.Phe195Ter) |
indel |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV002833387] |
Chr16:89919842..89919843 [GRCh38]
Chr16:89986250..89986251 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.875T>C (p.Ile292Thr) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV002933937] |
Chr16:89920133 [GRCh38]
Chr16:89986541 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.284C>G (p.Thr95Arg) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV003086811] |
Chr16:89919542 [GRCh38]
Chr16:89985950 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.106C>G (p.Leu36Val) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV002629572] |
Chr16:89919364 [GRCh38]
Chr16:89985772 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.88C>T (p.Gln30Ter) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV002629258] |
Chr16:89919346 [GRCh38]
Chr16:89985754 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.131T>C (p.Leu44Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002813310] |
Chr16:89919389 [GRCh38]
Chr16:89985797 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.439T>C (p.Phe147Leu) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV003091267] |
Chr16:89919697 [GRCh38]
Chr16:89986105 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.519C>T (p.Val173=) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV003092695] |
Chr16:89919777 [GRCh38]
Chr16:89986185 [GRCh37]
Chr16:16q24.3 |
likely benign |
| NM_002386.4(MC1R):c.723C>T (p.Val241=) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV002633388] |
Chr16:89919981 [GRCh38]
Chr16:89986389 [GRCh37]
Chr16:16q24.3 |
likely benign |
| NM_002386.4(MC1R):c.685del (p.Arg229fs) |
deletion |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV002657992] |
Chr16:89919943 [GRCh38]
Chr16:89986351 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.585C>T (p.Phe195=) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV003050543] |
Chr16:89919843 [GRCh38]
Chr16:89986251 [GRCh37]
Chr16:16q24.3 |
likely benign |
| NM_002386.4(MC1R):c.786A>G (p.Thr262=) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV003067103] |
Chr16:89920044 [GRCh38]
Chr16:89986452 [GRCh37]
Chr16:16q24.3 |
likely benign |
| NM_002386.4(MC1R):c.86A>G (p.Asn29Ser) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV002605869] |
Chr16:89919344 [GRCh38]
Chr16:89985752 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.382A>G (p.Met128Val) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV002943253] |
Chr16:89919640 [GRCh38]
Chr16:89986048 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.422A>T (p.Asp141Val) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV002585312] |
Chr16:89919680 [GRCh38]
Chr16:89986088 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.264C>T (p.Ser88=) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV002633489] |
Chr16:89919522 [GRCh38]
Chr16:89985930 [GRCh37]
Chr16:16q24.3 |
likely benign |
| NM_002386.4(MC1R):c.847T>C (p.Phe283Leu) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV003066427] |
Chr16:89920105 [GRCh38]
Chr16:89986513 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.847T>A (p.Phe283Ile) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV002726050] |
Chr16:89920105 [GRCh38]
Chr16:89986513 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.461G>T (p.Ser154Ile) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV002603378] |
Chr16:89919719 [GRCh38]
Chr16:89986127 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.883C>T (p.Pro295Ser) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV003051251] |
Chr16:89920141 [GRCh38]
Chr16:89986549 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.880G>T (p.Asp294Tyr) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV002634190] |
Chr16:89920138 [GRCh38]
Chr16:89986546 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.811C>G (p.Pro271Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV003210853]|Melanoma, cutaneous malignant, susceptibility to, 5 [RCV003514616] |
Chr16:89920069 [GRCh38]
Chr16:89986477 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.372del (p.Cys125fs) |
deletion |
MC1R-related condition [RCV003406117] |
Chr16:89919629 [GRCh38]
Chr16:89986037 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.730A>C (p.Thr244Pro) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV003515306] |
Chr16:89919988 [GRCh38]
Chr16:89986396 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.207G>C (p.Leu69=) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV003630574] |
Chr16:89919465 [GRCh38]
Chr16:89985873 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.181G>A (p.Ala61Thr) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV003515216] |
Chr16:89919439 [GRCh38]
Chr16:89985847 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.778C>T (p.His260Tyr) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV003514079] |
Chr16:89920036 [GRCh38]
Chr16:89986444 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.751T>G (p.Phe251Val) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV003630606] |
Chr16:89920009 [GRCh38]
Chr16:89986417 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.667C>G (p.Arg223Gly) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV003630050] |
Chr16:89919925 [GRCh38]
Chr16:89986333 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.-11_19del (p.Met1_Gln7del) |
deletion |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV003628733] |
Chr16:89919246..89919275 [GRCh38]
Chr16:89985654..89985683 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.491C>G (p.Ala164Gly) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV003630909] |
Chr16:89919749 [GRCh38]
Chr16:89986157 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.937C>T (p.Leu313=) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV003828864] |
Chr16:89920195 [GRCh38]
Chr16:89986603 [GRCh37]
Chr16:16q24.3 |
likely benign |
| NM_002386.4(MC1R):c.790A>G (p.Ile264Val) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV003516401] |
Chr16:89920048 [GRCh38]
Chr16:89986456 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.586T>G (p.Phe196Val) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV003515123] |
Chr16:89919844 [GRCh38]
Chr16:89986252 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.348G>A (p.Leu116=) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV003630937] |
Chr16:89919606 [GRCh38]
Chr16:89986014 [GRCh37]
Chr16:16q24.3 |
likely benign |
| NM_002386.4(MC1R):c.480G>T (p.Arg160=) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV003629812] |
Chr16:89919738 [GRCh38]
Chr16:89986146 [GRCh37]
Chr16:16q24.3 |
likely benign |
| NM_002386.4(MC1R):c.129G>C (p.Gly43=) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV003628707] |
Chr16:89919387 [GRCh38]
Chr16:89985795 [GRCh37]
Chr16:16q24.3 |
likely benign |
| NM_002386.4(MC1R):c.726C>G (p.Thr242=) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV003629955] |
Chr16:89919984 [GRCh38]
Chr16:89986392 [GRCh37]
Chr16:16q24.3 |
likely benign |
| NM_002386.4(MC1R):c.787C>G (p.Leu263Val) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV003828772] |
Chr16:89920045 [GRCh38]
Chr16:89986453 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.273_274delinsGA (p.Asn91_Val92delinsLysMet) |
indel |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV003628931] |
Chr16:89919531..89919532 [GRCh38]
Chr16:89985939..89985940 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.426C>G (p.Arg142=) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV003516208] |
Chr16:89919684 [GRCh38]
Chr16:89986092 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.911A>T (p.Glu304Val) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV003629048] |
Chr16:89920169 [GRCh38]
Chr16:89986577 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.567G>T (p.Leu189=) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV003630324] |
Chr16:89919825 [GRCh38]
Chr16:89986233 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.882C>T (p.Asp294=) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV003515218] |
Chr16:89920140 [GRCh38]
Chr16:89986548 [GRCh37]
Chr16:16q24.3 |
likely benign |
| NM_002386.4(MC1R):c.506G>A (p.Trp169Ter) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV003515774] |
Chr16:89919764 [GRCh38]
Chr16:89986172 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.438C>T (p.Ile146=) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV003629836] |
Chr16:89919696 [GRCh38]
Chr16:89986104 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.158TGG[1] (p.Val54del) |
microsatellite |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV003829823] |
Chr16:89919416..89919418 [GRCh38]
Chr16:89985824..89985826 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.185_193del (p.Thr62_Ala64del) |
deletion |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV003629319] |
Chr16:89919439..89919447 [GRCh38]
Chr16:89985847..89985855 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.654C>T (p.Ala218=) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV003515124] |
Chr16:89919912 [GRCh38]
Chr16:89986320 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.366G>C (p.Val122=) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV003515135] |
Chr16:89919624 [GRCh38]
Chr16:89986032 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.337C>T (p.Leu113=) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV003630051] |
Chr16:89919595 [GRCh38]
Chr16:89986003 [GRCh37]
Chr16:16q24.3 |
likely benign |
| NM_002386.4(MC1R):c.511G>T (p.Ala171Ser) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV003630153] |
Chr16:89919769 [GRCh38]
Chr16:89986177 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.547T>G (p.Tyr183Asp) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV003516206] |
Chr16:89919805 [GRCh38]
Chr16:89986213 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.551A>G (p.Asp184Gly) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV003628950] |
Chr16:89919809 [GRCh38]
Chr16:89986217 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.415G>T (p.Ala139Ser) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV003515262] |
Chr16:89919673 [GRCh38]
Chr16:89986081 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.75G>T (p.Gly25=) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV003628995] |
Chr16:89919333 [GRCh38]
Chr16:89985741 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.466G>A (p.Val156Met) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV003514150] |
Chr16:89919724 [GRCh38]
Chr16:89986132 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.541G>C (p.Ala181Pro) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV003629775] |
Chr16:89919799 [GRCh38]
Chr16:89986207 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.800G>A (p.Cys267Tyr) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV003878484] |
Chr16:89920058 [GRCh38]
Chr16:89986466 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.122C>A (p.Ser41Tyr) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV003628920] |
Chr16:89919380 [GRCh38]
Chr16:89985788 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.564C>A (p.Val188=) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV003513842] |
Chr16:89919822 [GRCh38]
Chr16:89986230 [GRCh37]
Chr16:16q24.3 |
likely benign |
| NM_002386.4(MC1R):c.894_895insATCGACCCCCTCATCCTG (p.Tyr298_Ala299insIleAspProLeuIleLeu) |
insertion |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV003629715] |
Chr16:89920152..89920153 [GRCh38]
Chr16:89986560..89986561 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.323C>A (p.Ala108Asp) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV003629767] |
Chr16:89919581 [GRCh38]
Chr16:89985989 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.887_888del (p.Leu296fs) |
deletion |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV003629015] |
Chr16:89920144..89920145 [GRCh38]
Chr16:89986552..89986553 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.30_46del (p.Leu11fs) |
deletion |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV003628849] |
Chr16:89919285..89919301 [GRCh38]
Chr16:89985693..89985709 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.231C>G (p.Ile77Met) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV003630040] |
Chr16:89919489 [GRCh38]
Chr16:89985897 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.135C>G (p.Phe45Leu) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV003514103] |
Chr16:89919393 [GRCh38]
Chr16:89985801 [GRCh37]
Chr16:16q24.3 |
likely benign |
| NM_002386.4(MC1R):c.565C>T (p.Leu189=) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV003854522] |
Chr16:89919823 [GRCh38]
Chr16:89986231 [GRCh37]
Chr16:16q24.3 |
likely benign |
| NM_002386.4(MC1R):c.943T>C (p.Cys315Arg) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV003836858] |
Chr16:89920201 [GRCh38]
Chr16:89986609 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.50C>A (p.Thr17Asn) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV003843997] |
Chr16:89919308 [GRCh38]
Chr16:89985716 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.686_688dup (p.Arg229_Pro230insArg) |
duplication |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV003869978] |
Chr16:89919942..89919943 [GRCh38]
Chr16:89986350..89986351 [GRCh37]
Chr16:16q24.3 |
uncertain significance |
| NM_002386.4(MC1R):c.471C>T (p.Thr157=) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 5 [RCV003862178] |
Chr16:89919729 [GRCh38]
Chr16:89986137 [GRCh37]
Chr16:16q24.3 |
likely benign |
