1 |
MARVELD2 |
NM_001038603.2(MARVELD2):c.1331+4_1331+7delAGTG |
deletion |
Pathogenic |
1196 |
|
|
|
2 |
MARVELD2 |
MARVELD2, IVS4DS, T-C, +2 |
SNV |
Pathogenic |
1197 |
|
|
|
3 |
MARVELD2 |
NM_001038603.3(MARVELD2):c.1331+1G>A |
SNV |
Pathogenic |
228359 |
rs762352115 |
5:68728503-68728503 |
5:69432676-69432676 |
4 |
MARVELD2 |
NM_001038603.3(MARVELD2):c.1498C>T (p.Arg500Ter) |
SNV |
Pathogenic/Likely pathogenic |
1198 |
rs118203957 |
5:68728915-68728915 |
5:69433088-69433088 |
5 |
MARVELD2 |
NM_001038603.3(MARVELD2):c.1183-1G>A |
SNV |
Likely pathogenic |
1195 |
rs200781822 |
5:68728353-68728353 |
5:69432526-69432526 |
6 |
MARVELD2 |
NM_001038603.3(MARVELD2):c.364G>A (p.Ala122Thr) |
SNV |
Conflicting interpretations of pathogenicity |
178406 |
rs140764671 |
5:68715576-68715576 |
5:69419749-69419749 |
7 |
MARVELD2 |
NM_001038603.3(MARVELD2):c.500A>G (p.Gln167Arg) |
SNV |
Conflicting interpretations of pathogenicity |
178407 |
rs139854607 |
5:68715712-68715712 |
5:69419885-69419885 |
8 |
MARVELD2 |
NM_001038603.3(MARVELD2):c.898T>A (p.Leu300Met) |
SNV |
Conflicting interpretations of pathogenicity |
178409 |
rs72773422 |
5:68716110-68716110 |
5:69420283-69420283 |
9 |
MARVELD2 |
NM_001038603.3(MARVELD2):c.30G>A (p.Arg10=) |
SNV |
Conflicting interpretations of pathogenicity |
195109 |
rs143592561 |
5:68715242-68715242 |
5:69419415-69419415 |
10 |
MARVELD2 |
NM_001038603.3(MARVELD2):c.306G>A (p.Pro102=) |
SNV |
Conflicting interpretations of pathogenicity |
227543 |
rs181575833 |
5:68715518-68715518 |
5:69419691-69419691 |
11 |
MARVELD2 |
NM_001038603.3(MARVELD2):c.176C>T (p.Pro59Leu) |
SNV |
Conflicting interpretations of pathogenicity |
287288 |
rs150434290 |
5:68715388-68715388 |
5:69419561-69419561 |
12 |
MARVELD2 |
NM_001038603.3(MARVELD2):c.1407C>T (p.Tyr469=) |
SNV |
Conflicting interpretations of pathogenicity |
43844 |
rs61736168 |
5:68728824-68728824 |
5:69432997-69432997 |
13 |
MARVELD2 |
NM_001038603.3(MARVELD2):c.453C>T (p.Asp151=) |
SNV |
Conflicting interpretations of pathogenicity |
354080 |
rs147493796 |
5:68715665-68715665 |
5:69419838-69419838 |
14 |
MARVELD2 |
NM_001038603.3(MARVELD2):c.1248A>C (p.Thr416=) |
SNV |
Conflicting interpretations of pathogenicity |
354092 |
rs146746360 |
5:68728419-68728419 |
5:69432592-69432592 |
15 |
MARVELD2 |
NM_001038603.3(MARVELD2):c.*171G>A |
SNV |
Uncertain significance |
354097 |
rs756878174 |
5:68737652-68737652 |
5:69441825-69441825 |
16 |
MARVELD2 |
NM_001038603.3(MARVELD2):c.760C>G (p.Pro254Ala) |
SNV |
Uncertain significance |
354087 |
rs141046438 |
5:68715972-68715972 |
5:69420145-69420145 |
17 |
MARVELD2 |
NM_001038603.3(MARVELD2):c.1033A>G (p.Met345Val) |
SNV |
Uncertain significance |
354088 |
rs142560436 |
5:68716245-68716245 |
5:69420418-69420418 |
18 |
MARVELD2 |
NM_001038603.3(MARVELD2):c.1049T>C (p.Val350Ala) |
SNV |
Uncertain significance |
354089 |
rs886060733 |
5:68716261-68716261 |
5:69420434-69420434 |
19 |
MARVELD2 |
NM_001038603.3(MARVELD2):c.1100G>T (p.Arg367Met) |
SNV |
Uncertain significance |
354090 |
rs139908851 |
5:68716312-68716312 |
5:69420485-69420485 |
20 |
MARVELD2 |
NM_001038603.3(MARVELD2):c.1320C>A (p.Pro440=) |
SNV |
Uncertain significance |
354093 |
rs376627126 |
5:68728491-68728491 |
5:69432664-69432664 |
21 |
MARVELD2 |
NM_001038603.3(MARVELD2):c.1443G>A (p.Arg481=) |
SNV |
Uncertain significance |
354094 |
rs753543276 |
5:68728860-68728860 |
5:69433033-69433033 |
22 |
MARVELD2 |
NM_001038603.3(MARVELD2):c.*121C>T |
SNV |
Uncertain significance |
354096 |
rs886060735 |
5:68737602-68737602 |
5:69441775-69441775 |
23 |
MARVELD2 |
NM_001038603.3(MARVELD2):c.*184C>T |
SNV |
Uncertain significance |
354098 |
rs886060736 |
5:68737665-68737665 |
5:69441838-69441838 |
24 |
MARVELD2 |
NM_001038603.3(MARVELD2):c.454G>A (p.Ala152Thr) |
SNV |
Uncertain significance |
354081 |
rs556047320 |
5:68715666-68715666 |
5:69419839-69419839 |
25 |
MARVELD2 |
NM_001038603.3(MARVELD2):c.728A>G (p.Tyr243Cys) |
SNV |
Uncertain significance |
354085 |
rs115738510 |
5:68715940-68715940 |
5:69420113-69420113 |
26 |
MARVELD2 |
NM_001038603.3(MARVELD2):c.743A>G (p.Tyr248Cys) |
SNV |
Uncertain significance |
354086 |
rs886060732 |
5:68715955-68715955 |
5:69420128-69420128 |
27 |
MARVELD2 |
NM_001038603.3(MARVELD2):c.1216G>A (p.Asp406Asn) |
SNV |
Uncertain significance |
354091 |
rs886060734 |
5:68728387-68728387 |
5:69432560-69432560 |
28 |
MARVELD2 |
NM_001038603.3(MARVELD2):c.38G>A (p.Arg13His) |
SNV |
Uncertain significance |
354078 |
rs374313745 |
5:68715250-68715250 |
5:69419423-69419423 |
29 |
MARVELD2 |
NM_001038603.3(MARVELD2):c.57C>T (p.Ser19=) |
SNV |
Uncertain significance |
354079 |
rs772209957 |
5:68715269-68715269 |
5:69419442-69419442 |
30 |
MARVELD2 |
NM_001038603.3(MARVELD2):c.1660G>A (p.Val554Ile) |
SNV |
Uncertain significance |
417899 |
rs199708957 |
5:68737464-68737464 |
5:69441637-69441637 |
31 |
MARVELD2 |
NM_001038603.3(MARVELD2):c.115C>T (p.Arg39Trp) |
SNV |
Uncertain significance |
504612 |
rs145027254 |
5:68715327-68715327 |
5:69419500-69419500 |
32 |
MARVELD2 |
NM_001038603.3(MARVELD2):c.*97C>T |
SNV |
Uncertain significance |
907030 |
|
5:68737578-68737578 |
5:69441751-69441751 |
33 |
MARVELD2 |
NM_001038603.3(MARVELD2):c.273A>T (p.Arg91Ser) |
SNV |
Uncertain significance |
908016 |
|
5:68715485-68715485 |
5:69419658-69419658 |
34 |
MARVELD2 |
NM_001038603.3(MARVELD2):c.514T>C (p.Tyr172His) |
SNV |
Uncertain significance |
904707 |
|
5:68715726-68715726 |
5:69419899-69419899 |
35 |
MARVELD2 |
NM_001038603.3(MARVELD2):c.834T>C (p.Tyr278=) |
SNV |
Uncertain significance |
905494 |
|
5:68716046-68716046 |
5:69420219-69420219 |
36 |
MARVELD2 |
NM_001038603.3(MARVELD2):c.877G>C (p.Glu293Gln) |
SNV |
Uncertain significance |
905495 |
|
5:68716089-68716089 |
5:69420262-69420262 |
37 |
MARVELD2 |
NM_001038603.3(MARVELD2):c.950G>A (p.Arg317Gln) |
SNV |
Uncertain significance |
905496 |
|
5:68716162-68716162 |
5:69420335-69420335 |
38 |
MARVELD2 |
NM_001038603.3(MARVELD2):c.1253A>T (p.Lys418Ile) |
SNV |
Uncertain significance |
906007 |
|
5:68728424-68728424 |
5:69432597-69432597 |
39 |
MARVELD2 |
NM_001038603.3(MARVELD2):c.1308T>C (p.Pro436=) |
SNV |
Uncertain significance |
906008 |
|
5:68728479-68728479 |
5:69432652-69432652 |
40 |
MARVELD2 |
NM_001038603.3(MARVELD2):c.*8T>G |
SNV |
Uncertain significance |
907029 |
|
5:68737489-68737489 |
5:69441662-69441662 |
41 |
MARVELD2 |
NM_001038603.3(MARVELD2):c.*157T>C |
SNV |
Uncertain significance |
904780 |
|
5:68737638-68737638 |
5:69441811-69441811 |
42 |
MARVELD2 |
NM_001038603.3(MARVELD2):c.*266T>A |
SNV |
Uncertain significance |
904781 |
|
5:68737747-68737747 |
5:69441920-69441920 |
43 |
MARVELD2 |
NM_001038603.3(MARVELD2):c.*346C>G |
SNV |
Uncertain significance |
904782 |
|
5:68737827-68737827 |
5:69442000-69442000 |
44 |
MARVELD2 |
NM_001038603.3(MARVELD2):c.*376C>T |
SNV |
Uncertain significance |
904783 |
|
5:68737857-68737857 |
5:69442030-69442030 |
45 |
MARVELD2 |
NM_001038603.3(MARVELD2):c.1555-13A>G |
SNV |
Uncertain significance |
907028 |
|
5:68737346-68737346 |
5:69441519-69441519 |
46 |
MARVELD2 |
NM_001038603.3(MARVELD2):c.1491G>A (p.Ser497=) |
SNV |
Uncertain significance |
354095 |
rs149176039 |
5:68728908-68728908 |
5:69433081-69433081 |
47 |
MARVELD2 |
NM_001038603.3(MARVELD2):c.*210A>G |
SNV |
Uncertain significance |
354099 |
rs886060737 |
5:68737691-68737691 |
5:69441864-69441864 |
48 |
MARVELD2 |
NM_001038603.3(MARVELD2):c.808A>C (p.Ile270Leu) |
SNV |
Uncertain significance |
290785 |
rs139234053 |
5:68716020-68716020 |
5:69420193-69420193 |
49 |
MARVELD2 |
NM_001038603.3(MARVELD2):c.491G>C (p.Arg164Pro) |
SNV |
Uncertain significance |
354082 |
rs151176949 |
5:68715703-68715703 |
5:69419876-69419876 |
50 |
MARVELD2 |
NM_001038603.3(MARVELD2):c.662G>C (p.Trp221Ser) |
SNV |
Uncertain significance |
354084 |
rs886060731 |
5:68715874-68715874 |
5:69420047-69420047 |