1 |
GPR68 |
NM_001177676.2(GPR68):c.667_668del (p.Lys223fs) |
DEL |
Pathogenic
|
268085 |
rs1057517671 |
GRCh37: 14:91700727-91700728 GRCh38: 14:91234383-91234384 |
2 |
GPR68 |
NM_001177676.2(GPR68):c.221T>C (p.Leu74Pro) |
SNV |
Pathogenic
|
268086 |
rs1057517672 |
GRCh37: 14:91701174-91701174 GRCh38: 14:91234830-91234830 |
3 |
GPR68 |
NM_001177676.2(GPR68):c.386_835del (p.Phe129_Asn278del) |
DEL |
Pathogenic
|
268084 |
rs1555409827 |
GRCh37: 14:91700560-91701009 GRCh38: 14:91234216-91234665 |
4 |
ARHGAP6, AMELX |
NM_001142.2(AMELX):c.143del (p.Pro48fs) |
DEL |
Pathogenic
|
617639 |
rs1603038146 |
GRCh37: X:11316395-11316395 GRCh38: X:11298275-11298275 |
5 |
ENAM |
NM_031889.3(ENAM):c.-61+1G>A |
SNV |
Pathogenic
|
1012267 |
|
GRCh37: 4:71494682-71494682 GRCh38: 4:70628965-70628965 |
6 |
SLC24A4 |
NM_153646.4(SLC24A4):c.613C>T (p.Arg205Ter) |
SNV |
Pathogenic
|
1326286 |
|
GRCh37: 14:92909774-92909774 GRCh38: 14:92443430-92443430 |
7 |
GPR68 |
NM_001177676.2(GPR68):c.78_83delinsC (p.Val27fs) |
INDEL |
Pathogenic
|
1326287 |
|
GRCh37: 14:91701312-91701317 GRCh38: 14:91234968-91234973 |
8 |
KLK4 |
NM_004917.5(KLK4):c.637T>C (p.Cys213Arg) |
SNV |
Pathogenic
|
1327588 |
|
GRCh37: 19:51410318-51410318 GRCh38: 19:50907062-50907062 |
9 |
KLK4 |
NM_004917.5(KLK4):c.170C>A (p.Ser57Ter) |
SNV |
Pathogenic
|
1327589 |
|
GRCh37: 19:51412562-51412562 GRCh38: 19:50909306-50909306 |
10 |
SP6 |
NM_001258248.2(SP6):c.817_818delinsAT (p.Ala273Met) |
INDEL |
Pathogenic
|
997829 |
|
GRCh37: 17:45924978-45924979 GRCh38: 17:47847612-47847613 |
11 |
LTBP3 |
NM_001130144.3(LTBP3):c.3716G>A (p.Cys1239Tyr) |
SNV |
Likely Pathogenic
|
1694478 |
|
GRCh37: 11:65306843-65306843 GRCh38: 11:65539372-65539372 |
12 |
WDR72 |
NM_182758.4(WDR72):c.88C>T (p.Arg30Ter) |
SNV |
Likely Pathogenic
|
517616 |
rs770804941 |
GRCh37: 15:54025259-54025259 GRCh38: 15:53733062-53733062 |
13 |
DLX3 |
NM_005220.3(DLX3):c.574dup (p.Glu192fs) |
DUP |
Likely Pathogenic
|
373912 |
rs1057518764 |
GRCh37: 17:48069170-48069171 GRCh38: 17:49991806-49991807 |
14 |
ENAM |
NM_031889.3(ENAM):c.-112A>G |
SNV |
Uncertain Significance
|
349490 |
rs886059581 |
GRCh37: 4:71494630-71494630 GRCh38: 4:70628913-70628913 |
15 |
ENAM |
NM_031889.3(ENAM):c.3277C>T (p.Pro1093Ser) |
SNV |
Uncertain Significance
|
349508 |
rs35951442 |
GRCh37: 4:71510420-71510420 GRCh38: 4:70644703-70644703 |
16 |
ENAM |
NM_031889.3(ENAM):c.*605T>C |
SNV |
Uncertain Significance
|
349519 |
rs886059591 |
GRCh37: 4:71511177-71511177 GRCh38: 4:70645460-70645460 |
17 |
ENAM |
NM_031889.3(ENAM):c.1945G>A (p.Val649Ile) |
SNV |
Uncertain Significance
|
349500 |
rs199541879 |
GRCh37: 4:71509088-71509088 GRCh38: 4:70643371-70643371 |
18 |
ENAM |
NM_031889.3(ENAM):c.*422G>T |
SNV |
Uncertain Significance
|
349516 |
rs886059589 |
GRCh37: 4:71510994-71510994 GRCh38: 4:70645277-70645277 |
19 |
ENAM |
NM_031889.3(ENAM):c.1103G>A (p.Arg368His) |
SNV |
Uncertain Significance
|
349498 |
rs780933451 |
GRCh37: 4:71508246-71508246 GRCh38: 4:70642529-70642529 |
20 |
ENAM |
NM_031889.3(ENAM):c.3007G>A (p.Glu1003Lys) |
SNV |
Uncertain Significance
|
349507 |
rs775162070 |
GRCh37: 4:71510150-71510150 GRCh38: 4:70644433-70644433 |
21 |
ENAM |
NM_031889.3(ENAM):c.*985C>T |
SNV |
Uncertain Significance
|
349521 |
rs182854472 |
GRCh37: 4:71511557-71511557 GRCh38: 4:70645840-70645840 |
22 |
ENAM |
NM_031889.3(ENAM):c.*1241C>A |
SNV |
Uncertain Significance
|
349524 |
rs556213549 |
GRCh37: 4:71511813-71511813 GRCh38: 4:70646096-70646096 |
23 |
ENAM |
NM_031889.3(ENAM):c.3400G>T (p.Val1134Leu) |
SNV |
Uncertain Significance
|
349510 |
rs200396980 |
GRCh37: 4:71510543-71510543 GRCh38: 4:70644826-70644826 |
24 |
ENAM |
NM_031889.3(ENAM):c.2686T>A (p.Tyr896Asn) |
SNV |
Uncertain Significance
|
349504 |
rs754676479 |
GRCh37: 4:71509829-71509829 GRCh38: 4:70644112-70644112 |
25 |
ENAM |
NM_031889.3(ENAM):c.-25G>A |
SNV |
Uncertain Significance
|
349492 |
rs778175689 |
GRCh37: 4:71495193-71495193 GRCh38: 4:70629476-70629476 |
26 |
ENAM |
NM_031889.3(ENAM):c.888C>T (p.Asn296=) |
SNV |
Uncertain Significance
|
349495 |
rs778224567 |
GRCh37: 4:71508031-71508031 GRCh38: 4:70642314-70642314 |
27 |
ENAM |
NM_031889.3(ENAM):c.*1211T>G |
SNV |
Uncertain Significance
|
349523 |
rs886059593 |
GRCh37: 4:71511783-71511783 GRCh38: 4:70646066-70646066 |
28 |
ENAM |
NM_031889.3(ENAM):c.-218A>G |
SNV |
Uncertain Significance
|
349488 |
rs886059580 |
GRCh37: 4:71494524-71494524 GRCh38: 4:70628807-70628807 |
29 |
ENAM |
NM_031889.3(ENAM):c.-111A>T |
SNV |
Uncertain Significance
|
349491 |
rs886059582 |
GRCh37: 4:71494631-71494631 GRCh38: 4:70628914-70628914 |
30 |
ENAM |
NM_031889.3(ENAM):c.*156G>A |
SNV |
Uncertain Significance
|
349512 |
rs886059587 |
GRCh37: 4:71510728-71510728 GRCh38: 4:70645011-70645011 |
31 |
ENAM |
NM_031889.3(ENAM):c.2998C>G (p.Gln1000Glu) |
SNV |
Uncertain Significance
|
349506 |
rs886059585 |
GRCh37: 4:71510141-71510141 GRCh38: 4:70644424-70644424 |
32 |
ENAM |
NM_031889.3(ENAM):c.3310C>A (p.Gln1104Lys) |
SNV |
Uncertain Significance
|
349509 |
rs114751362 |
GRCh37: 4:71510453-71510453 GRCh38: 4:70644736-70644736 |
33 |
ENAM |
NM_031889.3(ENAM):c.871C>T (p.Pro291Ser) |
SNV |
Uncertain Significance
|
349494 |
rs752076298 |
GRCh37: 4:71508014-71508014 GRCh38: 4:70642297-70642297 |
34 |
ENAM |
NM_031889.3(ENAM):c.*69T>A |
SNV |
Uncertain Significance
|
349511 |
rs886059586 |
GRCh37: 4:71510641-71510641 GRCh38: 4:70644924-70644924 |
35 |
ENAM |
NM_031889.3(ENAM):c.899A>G (p.Gln300Arg) |
SNV |
Uncertain Significance
|
349496 |
rs886059583 |
GRCh37: 4:71508042-71508042 GRCh38: 4:70642325-70642325 |
36 |
ENAM |
NM_031889.3(ENAM):c.584G>T (p.Gly195Val) |
SNV |
Uncertain Significance
|
349493 |
rs143129444 |
GRCh37: 4:71503556-71503556 GRCh38: 4:70637839-70637839 |
37 |
ENAM |
NM_031889.3(ENAM):c.2573C>T (p.Ser858Leu) |
SNV |
Uncertain Significance
|
349503 |
rs774203624 |
GRCh37: 4:71509716-71509716 GRCh38: 4:70643999-70643999 |
38 |
ENAM |
NM_031889.3(ENAM):c.2172G>A (p.Pro724=) |
SNV |
Uncertain Significance
|
349501 |
rs149573021 |
GRCh37: 4:71509315-71509315 GRCh38: 4:70643598-70643598 |
39 |
ENAM |
NM_031889.3(ENAM):c.1080G>A (p.Arg360=) |
SNV |
Uncertain Significance
|
349497 |
rs765775414 |
GRCh37: 4:71508223-71508223 GRCh38: 4:70642506-70642506 |
40 |
ENAM |
NM_031889.3(ENAM):c.2688T>A (p.Tyr896Ter) |
SNV |
Uncertain Significance
|
632447 |
rs778381344 |
GRCh37: 4:71509831-71509831 GRCh38: 4:70644114-70644114 |
41 |
ENAM |
NM_031889.3(ENAM):c.*1528C>T |
SNV |
Uncertain Significance
|
904338 |
rs141963911 |
GRCh37: 4:71512100-71512100 GRCh38: 4:70646383-70646383 |
42 |
ENAM |
NM_031889.3(ENAM):c.1265C>G (p.Pro422Arg) |
SNV |
Uncertain Significance
|
904988 |
rs777996409 |
GRCh37: 4:71508408-71508408 GRCh38: 4:70642691-70642691 |
43 |
ENAM |
NM_031889.3(ENAM):c.1289A>G (p.Asn430Ser) |
SNV |
Uncertain Significance
|
904989 |
rs769265756 |
GRCh37: 4:71508432-71508432 GRCh38: 4:70642715-70642715 |
44 |
ENAM |
NM_031889.3(ENAM):c.1656C>G (p.Ile552Met) |
SNV |
Uncertain Significance
|
904990 |
rs145361338 |
GRCh37: 4:71508799-71508799 GRCh38: 4:70643082-70643082 |
45 |
ENAM |
NM_031889.3(ENAM):c.1827G>A (p.Arg609=) |
SNV |
Uncertain Significance
|
904991 |
rs375265900 |
GRCh37: 4:71508970-71508970 GRCh38: 4:70643253-70643253 |
46 |
ENAM |
NM_031889.3(ENAM):c.*222A>G |
SNV |
Uncertain Significance
|
905058 |
rs1161162098 |
GRCh37: 4:71510794-71510794 GRCh38: 4:70645077-70645077 |
47 |
ENAM |
NM_031889.3(ENAM):c.637C>T (p.Pro213Ser) |
SNV |
Uncertain Significance
|
904206 |
rs369065889 |
GRCh37: 4:71507780-71507780 GRCh38: 4:70642063-70642063 |
48 |
ENAM |
NM_031889.3(ENAM):c.950G>A (p.Arg317His) |
SNV |
Uncertain Significance
|
904207 |
rs373870116 |
GRCh37: 4:71508093-71508093 GRCh38: 4:70642376-70642376 |
49 |
ENAM |
NM_031889.3(ENAM):c.1072G>A (p.Gly358Ser) |
SNV |
Uncertain Significance
|
904208 |
rs147295492 |
GRCh37: 4:71508215-71508215 GRCh38: 4:70642498-70642498 |
50 |
ENAM |
NM_031889.3(ENAM):c.2816G>A (p.Arg939Lys) |
SNV |
Uncertain Significance
|
904264 |
rs752376600 |
GRCh37: 4:71509959-71509959 GRCh38: 4:70644242-70644242 |