1 |
PKD2L2-DT, MYOT |
NM_006790.3(MYOT):c.284G>T (p.Ser95Ile) |
SNV |
Pathogenic
|
5838 |
rs121908460 |
GRCh37: 5:137206624-137206624 GRCh38: 5:137870935-137870935 |
2 |
PKD2L2-DT, MYOT |
NM_006790.3(MYOT):c.179C>G (p.Ser60Cys) |
SNV |
Pathogenic
|
5836 |
rs121908458 |
GRCh37: 5:137206519-137206519 GRCh38: 5:137870830-137870830 |
3 |
PKD2L2-DT, MYOT |
NM_006790.3(MYOT):c.170C>T (p.Thr57Ile) |
SNV |
Pathogenic
|
5834 |
rs28937597 |
GRCh37: 5:137206510-137206510 GRCh38: 5:137870821-137870821 |
4 |
PKD2L2-DT, MYOT |
NM_006790.3(MYOT):c.179C>T (p.Ser60Phe) |
SNV |
Pathogenic
|
5837 |
rs121908458 |
GRCh37: 5:137206519-137206519 GRCh38: 5:137870830-137870830 |
5 |
PKD2L2-DT, MYOT |
NM_006790.3(MYOT):c.164C>T (p.Ser55Phe) |
SNV |
Pathogenic/Likely Pathogenic
|
5835 |
rs121908457 |
GRCh37: 5:137206504-137206504 GRCh38: 5:137870815-137870815 |
6 |
PKD2L2-DT, MYOT |
NM_006790.3(MYOT):c.859G>A (p.Gly287Arg) |
SNV |
Uncertain Significance
|
809804 |
rs374221793 |
GRCh37: 5:137219115-137219115 GRCh38: 5:137883426-137883426 |
7 |
PKD2L2-DT, MYOT |
NM_006790.3(MYOT):c.815A>C (p.Lys272Thr) |
SNV |
Uncertain Significance
|
1720359 |
|
GRCh37: 5:137217793-137217793 GRCh38: 5:137882104-137882104 |
8 |
PKD2L2-DT, MYOT |
NM_006790.3(MYOT):c.1454G>T (p.Arg485Leu) |
SNV |
Uncertain Significance
|
1715301 |
|
GRCh37: 5:137223031-137223031 GRCh38: 5:137887342-137887342 |
9 |
PKD2L2-DT, MYOT |
NM_006790.3(MYOT):c.725C>T (p.Ala242Val) |
SNV |
Uncertain Significance
|
1719739 |
|
GRCh37: 5:137217703-137217703 GRCh38: 5:137882014-137882014 |
10 |
PKD2L2-DT, MYOT |
NM_006790.3(MYOT):c.1401T>A (p.Asn467Lys) |
SNV |
Uncertain Significance
Uncertain Significance
|
351029 |
rs145427063 |
GRCh37: 5:137222978-137222978 GRCh38: 5:137887289-137887289 |
11 |
PKD2L2-DT, MYOT |
NM_006790.3(MYOT):c.686G>A (p.Ser229Asn) |
SNV |
Uncertain Significance
|
839777 |
rs193920888 |
GRCh37: 5:137217664-137217664 GRCh38: 5:137881975-137881975 |
12 |
PKD2L2-DT, MYOT |
NM_006790.3(MYOT):c.232G>A (p.Gly78Ser) |
SNV |
Uncertain Significance
|
950553 |
rs1755029530 |
GRCh37: 5:137206572-137206572 GRCh38: 5:137870883-137870883 |
13 |
PKD2L2-DT, MYOT |
NM_006790.3(MYOT):c.1370G>A (p.Arg457Gln) |
SNV |
Uncertain Significance
|
950692 |
rs755203621 |
GRCh37: 5:137222947-137222947 GRCh38: 5:137887258-137887258 |
14 |
PKD2L2-DT, MYOT |
NM_006790.3(MYOT):c.1084G>C (p.Glu362Gln) |
SNV |
Uncertain Significance
|
953464 |
rs755615381 |
GRCh37: 5:137221796-137221796 GRCh38: 5:137886107-137886107 |
15 |
PKD2L2-DT, MYOT |
NM_006790.3(MYOT):c.1266T>A (p.Thr422=) |
SNV |
Uncertain Significance
|
955677 |
rs760246681 |
GRCh37: 5:137222628-137222628 GRCh38: 5:137886939-137886939 |
16 |
PKD2L2-DT, MYOT |
NM_006790.3(MYOT):c.524G>A (p.Gly175Glu) |
SNV |
Uncertain Significance
|
960021 |
rs1304612966 |
GRCh37: 5:137211685-137211685 GRCh38: 5:137875996-137875996 |
17 |
PKD2L2-DT, MYOT |
NM_006790.3(MYOT):c.560G>A (p.Arg187His) |
SNV |
Uncertain Significance
|
961301 |
rs200273223 |
GRCh37: 5:137213237-137213237 GRCh38: 5:137877548-137877548 |
18 |
PKD2L2-DT, MYOT |
NM_006790.3(MYOT):c.490A>C (p.Lys164Gln) |
SNV |
Uncertain Significance
|
970619 |
rs1214787397 |
GRCh37: 5:137211651-137211651 GRCh38: 5:137875962-137875962 |
19 |
PKD2L2-DT, MYOT |
NM_006790.3(MYOT):c.335T>A (p.Ile112Asn) |
SNV |
Uncertain Significance
|
351022 |
rs752723849 |
GRCh37: 5:137206675-137206675 GRCh38: 5:137870986-137870986 |
20 |
PKD2L2-DT, MYOT |
NM_006790.3(MYOT):c.17G>A (p.Arg6His) |
SNV |
Uncertain Significance
|
30407 |
rs387906882 |
GRCh37: 5:137206357-137206357 GRCh38: 5:137870668-137870668 |
21 |
PKD2L2-DT, MYOT |
NM_006790.3(MYOT):c.1345C>G (p.Pro449Ala) |
SNV |
Uncertain Significance
|
464366 |
rs766650528 |
GRCh37: 5:137222922-137222922 GRCh38: 5:137887233-137887233 |
22 |
PKD2L2-DT, MYOT |
NM_006790.3(MYOT):c.1286C>G (p.Ala429Gly) |
SNV |
Uncertain Significance
Uncertain Significance
|
288959 |
rs144731446 |
GRCh37: 5:137222648-137222648 GRCh38: 5:137886959-137886959 |
23 |
PKD2L2-DT, MYOT |
NM_006790.3(MYOT):c.816+5G>T |
SNV |
Uncertain Significance
|
533013 |
rs750433300 |
GRCh37: 5:137217799-137217799 GRCh38: 5:137882110-137882110 |
24 |
PKD2L2-DT, MYOT |
NM_006790.3(MYOT):c.1413G>T (p.Leu471Phe) |
SNV |
Uncertain Significance
|
283264 |
rs146426896 |
GRCh37: 5:137222990-137222990 GRCh38: 5:137887301-137887301 |
25 |
PKD2L2-DT, MYOT |
NM_006790.3(MYOT):c.1159G>A (p.Glu387Lys) |
SNV |
Uncertain Significance
|
657395 |
rs373489115 |
GRCh37: 5:137221871-137221871 GRCh38: 5:137886182-137886182 |
26 |
PKD2L2-DT, MYOT |
NM_006790.3(MYOT):c.182A>C (p.His61Pro) |
SNV |
Uncertain Significance
|
664775 |
rs372276337 |
GRCh37: 5:137206522-137206522 GRCh38: 5:137870833-137870833 |
27 |
PKD2L2-DT, MYOT |
NM_006790.3(MYOT):c.701G>A (p.Arg234Lys) |
SNV |
Uncertain Significance
|
853618 |
rs1755447825 |
GRCh37: 5:137217679-137217679 GRCh38: 5:137881990-137881990 |
28 |
PKD2L2-DT, MYOT |
NM_006790.3(MYOT):c.642C>A (p.Asn214Lys) |
SNV |
Uncertain Significance
|
1020719 |
rs957169726 |
GRCh37: 5:137216513-137216513 GRCh38: 5:137880824-137880824 |
29 |
PKD2L2-DT, MYOT |
NM_006790.3(MYOT):c.122T>C (p.Ile41Thr) |
SNV |
Uncertain Significance
|
129682 |
rs587780396 |
GRCh37: 5:137206462-137206462 GRCh38: 5:137870773-137870773 |
30 |
PKD2L2-DT, MYOT |
NM_006790.3(MYOT):c.98G>T (p.Ser33Ile) |
SNV |
Uncertain Significance
|
464376 |
rs1554102559 |
GRCh37: 5:137206438-137206438 GRCh38: 5:137870749-137870749 |
31 |
PKD2L2-DT, MYOT |
NM_006790.3(MYOT):c.391G>T (p.Ala131Ser) |
SNV |
Uncertain Significance
|
464372 |
rs1554102961 |
GRCh37: 5:137211552-137211552 GRCh38: 5:137875863-137875863 |
32 |
PKD2L2-DT, MYOT |
NM_006790.3(MYOT):c.372del (p.Ala125fs) |
DEL |
Uncertain Significance
|
464370 |
rs781353247 |
GRCh37: 5:137211533-137211533 GRCh38: 5:137875844-137875844 |
33 |
PKD2L2-DT, MYOT |
NM_006790.3(MYOT):c.-286C>G |
SNV |
Uncertain Significance
|
903840 |
rs1281967239 |
GRCh37: 5:137203568-137203568 GRCh38: 5:137867879-137867879 |
34 |
PKD2L2-DT, MYOT |
NM_006790.3(MYOT):c.348G>A (p.Met116Ile) |
SNV |
Uncertain Significance
|
903901 |
rs1295803826 |
GRCh37: 5:137206688-137206688 GRCh38: 5:137870999-137870999 |
35 |
PKD2L2-DT, MYOT |
NM_006790.3(MYOT):c.356+13T>G |
SNV |
Uncertain Significance
|
903902 |
rs1461754985 |
GRCh37: 5:137206709-137206709 GRCh38: 5:137871020-137871020 |
36 |
PKD2L2-DT, MYOT |
NM_006790.3(MYOT):c.*418T>C |
SNV |
Uncertain Significance
|
351033 |
rs778508971 |
GRCh37: 5:137223492-137223492 GRCh38: 5:137887803-137887803 |
37 |
PKD2L2-DT, MYOT |
NM_006790.3(MYOT):c.758T>C (p.Ile253Thr) |
SNV |
Uncertain Significance
|
432877 |
rs201113539 |
GRCh37: 5:137217736-137217736 GRCh38: 5:137882047-137882047 |
38 |
PKD2L2-DT, MYOT |
NM_006790.3(MYOT):c.655C>T (p.Arg219Ter) |
SNV |
Uncertain Significance
|
1018279 |
rs781249546 |
GRCh37: 5:137216526-137216526 GRCh38: 5:137880837-137880837 |
39 |
PKD2L2-DT, MYOT |
NM_006790.3(MYOT):c.998C>T (p.Thr333Ile) |
SNV |
Uncertain Significance
|
521779 |
rs758194318 |
GRCh37: 5:137219254-137219254 GRCh38: 5:137883565-137883565 |
40 |
PKD2L2-DT, MYOT |
NM_006790.3(MYOT):c.298A>G (p.Ile100Val) |
SNV |
Uncertain Significance
|
1163258 |
|
GRCh37: 5:137206638-137206638 GRCh38: 5:137870949-137870949 |
41 |
PKD2L2-DT, MYOT |
NM_006790.3(MYOT):c.593T>C (p.Val198Ala) |
SNV |
Uncertain Significance
|
1379723 |
|
GRCh37: 5:137213270-137213270 GRCh38: 5:137877581-137877581 |
42 |
PKD2L2-DT, MYOT |
NM_006790.3(MYOT):c.552G>C (p.Lys184Asn) |
SNV |
Uncertain Significance
|
1382936 |
|
GRCh37: 5:137213229-137213229 GRCh38: 5:137877540-137877540 |
43 |
PKD2L2-DT, MYOT |
NM_006790.3(MYOT):c.982A>G (p.Arg328Gly) |
SNV |
Uncertain Significance
|
1402692 |
|
GRCh37: 5:137219238-137219238 GRCh38: 5:137883549-137883549 |
44 |
PKD2L2-DT, MYOT |
NM_006790.3(MYOT):c.50G>A (p.Cys17Tyr) |
SNV |
Uncertain Significance
|
1391939 |
|
GRCh37: 5:137206390-137206390 GRCh38: 5:137870701-137870701 |
45 |
PKD2L2-DT, MYOT |
NM_006790.3(MYOT):c.1253C>T (p.Ala418Val) |
SNV |
Uncertain Significance
|
1468116 |
|
GRCh37: 5:137222615-137222615 GRCh38: 5:137886926-137886926 |
46 |
PKD2L2-DT, MYOT |
NM_006790.3(MYOT):c.1132C>G (p.Pro378Ala) |
SNV |
Uncertain Significance
|
1464480 |
|
GRCh37: 5:137221844-137221844 GRCh38: 5:137886155-137886155 |
47 |
MYOT |
NC_000005.9:g.(?_137216485)_(137221922_?)del |
DEL |
Uncertain Significance
|
1433344 |
|
GRCh37: 5:137216485-137221922 GRCh38: |
48 |
PKD2L2-DT, MYOT |
NM_006790.3(MYOT):c.1191C>T (p.Ser397=) |
SNV |
Uncertain Significance
|
1498343 |
|
GRCh37: 5:137222553-137222553 GRCh38: 5:137886864-137886864 |
49 |
PKD2L2-DT, MYOT |
NM_006790.3(MYOT):c.1201G>T (p.Asp401Tyr) |
SNV |
Uncertain Significance
|
1522683 |
|
GRCh37: 5:137222563-137222563 GRCh38: 5:137886874-137886874 |
50 |
PKD2L2-DT, MYOT |
NM_006790.3(MYOT):c.680_683del (p.Val227fs) |
DEL |
Uncertain Significance
|
943798 |
rs775014749 |
GRCh37: 5:137216548-137216551 GRCh38: 5:137880859-137880862 |