1 |
MC2R |
NM_000529.2(MC2R):c.221G>T (p.Ser74Ile) |
SNV |
Pathogenic
|
3258 |
rs104894658 |
GRCh37: 18:13885297-13885297 GRCh38: 18:13885298-13885298 |
2 |
MC2R |
NM_000529.2(MC2R):c.601C>T (p.Arg201Ter) |
SNV |
Pathogenic
|
3259 |
rs104894659 |
GRCh37: 18:13884917-13884917 GRCh38: 18:13884918-13884918 |
3 |
MC2R |
NM_000529.2(MC2R):c.360C>G (p.Ser120Arg) |
SNV |
Pathogenic
|
3260 |
rs104894656 |
GRCh37: 18:13885158-13885158 GRCh38: 18:13885159-13885159 |
4 |
MC2R |
NM_000529.2(MC2R):c.382C>T (p.Arg128Cys) |
SNV |
Pathogenic
|
3261 |
rs104894657 |
GRCh37: 18:13885136-13885136 GRCh38: 18:13885137-13885137 |
5 |
MC2R |
NM_000529.2(MC2R):c.319G>A (p.Asp107Asn) |
SNV |
Pathogenic
|
3262 |
rs104894661 |
GRCh37: 18:13885199-13885199 GRCh38: 18:13885200-13885200 |
6 |
MC2R |
NM_000529.2(MC2R):c.752G>T (p.Cys251Phe) |
SNV |
Pathogenic
|
3264 |
rs104894662 |
GRCh37: 18:13884766-13884766 GRCh38: 18:13884767-13884767 |
7 |
MC2R |
NM_000529.2(MC2R):c.761A>G (p.Tyr254Cys) |
SNV |
Pathogenic
|
3266 |
rs28940892 |
GRCh37: 18:13884757-13884757 GRCh38: 18:13884758-13884758 |
8 |
MC2R |
NM_000529.2(MC2R):c.376G>T (p.Ala126Ser) |
SNV |
Pathogenic
|
18425 |
rs267607231 |
GRCh37: 18:13885142-13885142 GRCh38: 18:13885143-13885143 |
9 |
MRAP |
NM_001379228.1(MRAP):c.1A>G (p.Met1Val) |
SNV |
Pathogenic
|
444067 |
rs1555897462 |
GRCh37: 21:33671283-33671283 GRCh38: 21:32298972-32298972 |
10 |
MC2R |
NM_000529.2(MC2R):c.459dup (p.Ile154fs) |
DUP |
Pathogenic
|
444065 |
rs1555619430 |
GRCh37: 18:13885058-13885059 GRCh38: 18:13885059-13885060 |
11 |
MRAP |
NM_001379228.1(MRAP):c.3G>A (p.Met1Ile) |
SNV |
Pathogenic
|
1841 |
rs80358231 |
GRCh37: 21:33671285-33671285 GRCh38: 21:32298974-32298974 |
12 |
MC2R |
NM_000529.2(MC2R):c.424G>T (p.Val142Leu) |
SNV |
Pathogenic
|
444066 |
rs199950178 |
GRCh37: 18:13885094-13885094 GRCh38: 18:13885095-13885095 |
13 |
MC2R |
NM_000529.2(MC2R):c.702del (p.Phe235fs) |
DEL |
Pathogenic
|
444063 |
rs1555619372 |
GRCh37: 18:13884816-13884816 GRCh38: 18:13884817-13884817 |
14 |
MC2R |
NM_000529.2(MC2R):c.674T>G (p.Leu225Arg) |
SNV |
Pathogenic
|
444064 |
rs1555619377 |
GRCh37: 18:13884844-13884844 GRCh38: 18:13884845-13884845 |
15 |
MC2R |
NM_000529.2(MC2R):c.560del (p.Val187fs) |
DEL |
Pathogenic
|
492868 |
rs1555619406 |
GRCh37: 18:13884958-13884958 GRCh38: 18:13884959-13884959 |
16 |
MC2R |
NM_000529.2(MC2R):c.681_688dup (p.Phe230fs) |
DUP |
Pathogenic
|
1691320 |
|
GRCh37: 18:13884829-13884830 GRCh38: 18:13884830-13884831 |
17 |
MC2R |
NM_000529.2(MC2R):c.652_653insA (p.Ala218fs) |
INSERT |
Pathogenic
|
3263 |
|
GRCh37: 18:13884865-13884866 GRCh38: 18:13884866-13884867 |
18 |
MRAP |
NM_001379228.1(MRAP):c.106+1del |
DEL |
Pathogenic
|
444068 |
rs1476574441 |
GRCh37: 21:33671389-33671389 GRCh38: 21:32299078-32299078 |
19 |
MC2R |
NM_000529.2(MC2R):c.409C>T (p.Arg137Trp) |
SNV |
Pathogenic/Likely Pathogenic
|
3265 |
rs104894660 |
GRCh37: 18:13885109-13885109 GRCh38: 18:13885110-13885110 |
20 |
MC2R |
NM_000529.2(MC2R):c.676G>C (p.Gly226Arg) |
SNV |
Likely Pathogenic
|
1285296 |
|
GRCh37: 18:13884842-13884842 GRCh38: 18:13884843-13884843 |
21 |
MC2R |
NM_000529.2(MC2R):c.437G>A (p.Arg146His) |
SNV |
Likely Pathogenic
|
631794 |
rs758709668 |
GRCh37: 18:13885081-13885081 GRCh38: 18:13885082-13885082 |
22 |
MC2R |
NM_000529.2(MC2R):c.765G>A (p.Met255Ile) |
SNV |
Uncertain Significance
|
326193 |
rs181640454 |
GRCh37: 18:13884753-13884753 GRCh38: 18:13884754-13884754 |
23 |
MC2R |
NM_000529.2(MC2R):c.*1469A>G |
SNV |
Uncertain Significance
|
889232 |
rs1258255213 |
GRCh37: 18:13883155-13883155 GRCh38: 18:13883156-13883156 |
24 |
MC2R |
NM_000529.2(MC2R):c.*673C>T |
SNV |
Uncertain Significance
|
889290 |
rs1039130161 |
GRCh37: 18:13883951-13883951 GRCh38: 18:13883952-13883952 |
25 |
MC2R |
NM_000529.2(MC2R):c.*582C>A |
SNV |
Uncertain Significance
|
889291 |
rs34861769 |
GRCh37: 18:13884042-13884042 GRCh38: 18:13884043-13884043 |
26 |
MC2R |
NM_000529.2(MC2R):c.410G>A (p.Arg137Gln) |
SNV |
Uncertain Significance
|
889348 |
rs1208417750 |
GRCh37: 18:13885108-13885108 GRCh38: 18:13885109-13885109 |
27 |
MC2R |
NM_000529.2(MC2R):c.409C>A (p.Arg137=) |
SNV |
Uncertain Significance
|
889349 |
rs104894660 |
GRCh37: 18:13885109-13885109 GRCh38: 18:13885110-13885110 |
28 |
MC2R |
NM_000529.2(MC2R):c.403G>A (p.Ala135Thr) |
SNV |
Uncertain Significance
|
889350 |
rs764887426 |
GRCh37: 18:13885115-13885115 GRCh38: 18:13885116-13885116 |
29 |
MC2R |
NM_000529.2(MC2R):c.377C>T (p.Ala126Val) |
SNV |
Uncertain Significance
|
889351 |
rs368669544 |
GRCh37: 18:13885141-13885141 GRCh38: 18:13885142-13885142 |
30 |
MC2R |
NM_000529.2(MC2R):c.133G>A (p.Val45Ile) |
SNV |
Uncertain Significance
|
889352 |
rs148298654 |
GRCh37: 18:13885385-13885385 GRCh38: 18:13885386-13885386 |
31 |
MC2R |
NM_000529.2(MC2R):c.*2572G>A |
SNV |
Uncertain Significance
|
889852 |
rs2045234534 |
GRCh37: 18:13882052-13882052 GRCh38: 18:13882053-13882053 |
32 |
MC2R |
NM_000529.2(MC2R):c.*2427T>C |
SNV |
Uncertain Significance
|
889853 |
rs2045235792 |
GRCh37: 18:13882197-13882197 GRCh38: 18:13882198-13882198 |
33 |
MC2R |
NM_000529.2(MC2R):c.*2409A>G |
SNV |
Uncertain Significance
|
889854 |
rs893851558 |
GRCh37: 18:13882215-13882215 GRCh38: 18:13882216-13882216 |
34 |
MC2R |
NM_000529.2(MC2R):c.*1068A>G |
SNV |
Uncertain Significance
|
889910 |
rs1053713890 |
GRCh37: 18:13883556-13883556 GRCh38: 18:13883557-13883557 |
35 |
MC2R |
NM_000529.2(MC2R):c.*1043G>A |
SNV |
Uncertain Significance
|
889911 |
rs1007872828 |
GRCh37: 18:13883581-13883581 GRCh38: 18:13883582-13883582 |
36 |
MC2R |
NM_000529.2(MC2R):c.*1039G>A |
SNV |
Uncertain Significance
|
889912 |
rs966371778 |
GRCh37: 18:13883585-13883585 GRCh38: 18:13883586-13883586 |
37 |
MC2R |
NM_000529.2(MC2R):c.*1035G>A |
SNV |
Uncertain Significance
|
889913 |
rs2045247559 |
GRCh37: 18:13883589-13883589 GRCh38: 18:13883590-13883590 |
38 |
MC2R |
NM_000529.2(MC2R):c.*1537A>G |
SNV |
Uncertain Significance
|
326140 |
rs34722656 |
GRCh37: 18:13883087-13883087 GRCh38: 18:13883088-13883088 |
39 |
MC2R |
NM_000529.2(MC2R):c.*406C>A |
SNV |
Uncertain Significance
|
326183 |
rs553257738 |
GRCh37: 18:13884218-13884218 GRCh38: 18:13884219-13884219 |
40 |
MC2R |
NM_000529.2(MC2R):c.*376G>C |
SNV |
Uncertain Significance
|
326186 |
rs886053649 |
GRCh37: 18:13884248-13884248 GRCh38: 18:13884249-13884249 |
41 |
MC2R |
NM_000529.2(MC2R):c.*996A>T |
SNV |
Uncertain Significance
|
326166 |
rs4996467 |
GRCh37: 18:13883628-13883628 GRCh38: 18:13883629-13883629 |
42 |
MC2R |
NM_000529.2(MC2R):c.*1000T>A |
SNV |
Uncertain Significance
|
326160 |
rs886053636 |
GRCh37: 18:13883624-13883624 GRCh38: 18:13883625-13883625 |
43 |
MC2R |
NM_000529.2(MC2R):c.*1092G>A |
SNV |
Uncertain Significance
|
326146 |
rs886053625 |
GRCh37: 18:13883532-13883532 GRCh38: 18:13883533-13883533 |
44 |
MC2R |
NM_000529.2(MC2R):c.*1274T>A |
SNV |
Uncertain Significance
|
326143 |
rs886053623 |
GRCh37: 18:13883350-13883350 GRCh38: 18:13883351-13883351 |
45 |
MC2R |
NM_000529.2(MC2R):c.*470G>A |
SNV |
Uncertain Significance
|
326180 |
rs886053646 |
GRCh37: 18:13884154-13884154 GRCh38: 18:13884155-13884155 |
46 |
MC2R |
NM_000529.2(MC2R):c.524T>A (p.Val175Glu) |
SNV |
Uncertain Significance
|
326195 |
rs886053651 |
GRCh37: 18:13884994-13884994 GRCh38: 18:13884995-13884995 |
47 |
MC2R |
NM_000529.2(MC2R):c.*848A>T |
SNV |
Uncertain Significance
|
326172 |
rs766857800 |
GRCh37: 18:13883776-13883776 GRCh38: 18:13883777-13883777 |
48 |
MC2R |
NM_000529.2(MC2R):c.*911A>C |
SNV |
Uncertain Significance
|
326169 |
rs886053643 |
GRCh37: 18:13883713-13883713 GRCh38: 18:13883714-13883714 |
49 |
MC2R |
NM_000529.2(MC2R):c.*1012T>A |
SNV |
Uncertain Significance
|
326155 |
rs886053632 |
GRCh37: 18:13883612-13883612 GRCh38: 18:13883613-13883613 |
50 |
MC2R |
NM_000529.2(MC2R):c.-117A>T |
SNV |
Uncertain Significance
|
326200 |
rs886053652 |
GRCh37: 18:13885634-13885634 GRCh38: 18:13885635-13885635 |