1 |
VPS45 |
NM_007259.5(VPS45):c.671C>A (p.Thr224Asn) |
SNV |
Pathogenic
|
55906 |
rs879255237 |
GRCh37: 1:150049841-150049841 GRCh38: 1:150077763-150077763 |
2 |
VPS45 |
NM_007259.5(VPS45):c.712G>A (p.Glu238Lys) |
SNV |
Likely Pathogenic
|
55907 |
rs782269909 |
GRCh37: 1:150053448-150053448 GRCh38: 1:150081366-150081366 |
3 |
VPS45 |
NM_007259.5(VPS45):c.758C>T (p.Pro253Leu) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
791006 |
rs143828923 |
GRCh37: 1:150053494-150053494 GRCh38: 1:150081412-150081412 |
4 |
VPS45 |
NM_007259.5(VPS45):c.475A>G (p.Thr159Ala) |
SNV |
Uncertain Significance
|
1384010 |
|
GRCh37: 1:150049208-150049208 GRCh38: 1:150077130-150077130 |
5 |
VPS45 |
NM_007259.5(VPS45):c.352G>A (p.Val118Ile) |
SNV |
Uncertain Significance
|
1402871 |
|
GRCh37: 1:150048373-150048373 GRCh38: 1:150076295-150076295 |
6 |
VPS45 |
NM_007259.5(VPS45):c.115T>A (p.Tyr39Asn) |
SNV |
Uncertain Significance
|
1379915 |
|
GRCh37: 1:150040708-150040708 GRCh38: 1:150068651-150068651 |
7 |
VPS45 |
NM_007259.5(VPS45):c.1141G>A (p.Glu381Lys) |
SNV |
Uncertain Significance
|
1411706 |
|
GRCh37: 1:150064067-150064067 GRCh38: 1:150091973-150091973 |
8 |
VPS45 |
NM_007259.5(VPS45):c.926C>T (p.Ala309Val) |
SNV |
Uncertain Significance
|
1362175 |
|
GRCh37: 1:150054069-150054069 GRCh38: 1:150081987-150081987 |
9 |
overlap with 230 genes |
NC_000001.10:g.(?_149895434)_(156851434_?)dup |
DUP |
Uncertain Significance
|
1445481 |
|
GRCh37: 1:149895434-156851434 GRCh38: |
10 |
VPS45 |
NM_007259.5(VPS45):c.690G>T (p.Trp230Cys) |
SNV |
Uncertain Significance
|
1437134 |
|
GRCh37: 1:150053426-150053426 GRCh38: 1:150081344-150081344 |
11 |
VPS45 |
NM_007259.5(VPS45):c.1186G>A (p.Glu396Lys) |
SNV |
Uncertain Significance
|
1470258 |
|
GRCh37: 1:150064112-150064112 GRCh38: 1:150092018-150092018 |
12 |
VPS45 |
NM_007259.5(VPS45):c.93G>A (p.Thr31=) |
SNV |
Uncertain Significance
|
1475739 |
|
GRCh37: 1:150040007-150040007 GRCh38: 1:150067950-150067950 |
13 |
VPS45 |
NM_007259.5(VPS45):c.1412A>G (p.His471Arg) |
SNV |
Uncertain Significance
|
1469181 |
|
GRCh37: 1:150065663-150065663 GRCh38: 1:150093567-150093567 |
14 |
VPS45 |
NM_007259.5(VPS45):c.319G>C (p.Val107Leu) |
SNV |
Uncertain Significance
|
1505696 |
|
GRCh37: 1:150048340-150048340 GRCh38: 1:150076262-150076262 |
15 |
VPS45 |
NM_007259.5(VPS45):c.404A>G (p.His135Arg) |
SNV |
Uncertain Significance
|
1488243 |
|
GRCh37: 1:150049028-150049028 GRCh38: 1:150076950-150076950 |
16 |
VPS45 |
NM_007259.5(VPS45):c.461A>T (p.Gln154Leu) |
SNV |
Uncertain Significance
|
1480942 |
|
GRCh37: 1:150049194-150049194 GRCh38: 1:150077116-150077116 |
17 |
VPS45 |
NM_007259.5(VPS45):c.1543G>A (p.Ala515Thr) |
SNV |
Uncertain Significance
|
1512288 |
|
GRCh37: 1:150082660-150082660 GRCh38: 1:150110545-150110545 |
18 |
VPS45 |
NM_007259.5(VPS45):c.821A>G (p.Asn274Ser) |
SNV |
Uncertain Significance
|
1514881 |
|
GRCh37: 1:150053557-150053557 GRCh38: 1:150081475-150081475 |
19 |
VPS45 |
NM_007259.5(VPS45):c.38A>G (p.Lys13Arg) |
SNV |
Uncertain Significance
|
1506686 |
|
GRCh37: 1:150039952-150039952 GRCh38: 1:150067895-150067895 |
20 |
VPS45 |
NM_007259.5(VPS45):c.1568G>T (p.Arg523Leu) |
SNV |
Uncertain Significance
|
1352799 |
|
GRCh37: 1:150082685-150082685 GRCh38: 1:150110570-150110570 |
21 |
VPS45 |
NM_007259.5(VPS45):c.187A>G (p.Met63Val) |
SNV |
Uncertain Significance
|
1352996 |
|
GRCh37: 1:150040780-150040780 GRCh38: 1:150068723-150068723 |
22 |
VPS45 |
NM_007259.5(VPS45):c.220C>T (p.Pro74Ser) |
SNV |
Uncertain Significance
|
1346302 |
|
GRCh37: 1:150040813-150040813 GRCh38: 1:150068756-150068756 |
23 |
VPS45 |
NM_007259.5(VPS45):c.614G>A (p.Arg205His) |
SNV |
Uncertain Significance
|
474245 |
rs146660821 |
GRCh37: 1:150049784-150049784 GRCh38: 1:150077706-150077706 |
24 |
VPS45 |
NM_007259.5(VPS45):c.566A>G (p.Glu189Gly) |
SNV |
Uncertain Significance
|
541273 |
rs144659538 |
GRCh37: 1:150049299-150049299 GRCh38: 1:150077221-150077221 |
25 |
VPS45 |
NM_007259.5(VPS45):c.1535A>G (p.Tyr512Cys) |
SNV |
Uncertain Significance
|
626050 |
rs782797599 |
GRCh37: 1:150082652-150082652 GRCh38: 1:150110537-150110537 |
26 |
VPS45 |
NM_007259.5(VPS45):c.319G>A (p.Val107Met) |
SNV |
Uncertain Significance
|
639607 |
rs782553177 |
GRCh37: 1:150048340-150048340 GRCh38: 1:150076262-150076262 |
27 |
VPS45 |
NM_007259.5(VPS45):c.1664G>A (p.Arg555Gln) |
SNV |
Uncertain Significance
|
647655 |
rs142968690 |
GRCh37: 1:150116925-150116925 GRCh38: 1:150144747-150144747 |
28 |
VPS45 |
NM_007259.5(VPS45):c.1174G>A (p.Ala392Thr) |
SNV |
Uncertain Significance
|
658240 |
rs782059726 |
GRCh37: 1:150064100-150064100 GRCh38: 1:150092006-150092006 |
29 |
VPS45 |
NM_007259.5(VPS45):c.170C>A (p.Ser57Tyr) |
SNV |
Uncertain Significance
|
659879 |
rs782358688 |
GRCh37: 1:150040763-150040763 GRCh38: 1:150068706-150068706 |
30 |
VPS45 |
NM_007259.5(VPS45):c.1190G>A (p.Arg397Gln) |
SNV |
Uncertain Significance
|
665526 |
rs373735080 |
GRCh37: 1:150064116-150064116 GRCh38: 1:150092022-150092022 |
31 |
VPS45 |
NM_007259.5(VPS45):c.1567C>T (p.Arg523Cys) |
SNV |
Uncertain Significance
|
841086 |
rs782426640 |
GRCh37: 1:150082684-150082684 GRCh38: 1:150110569-150110569 |
32 |
VPS45 |
NM_007259.5(VPS45):c.778A>G (p.Arg260Gly) |
SNV |
Uncertain Significance
|
850179 |
rs587646859 |
GRCh37: 1:150053514-150053514 GRCh38: 1:150081432-150081432 |
33 |
VPS45 |
NM_007259.5(VPS45):c.1162G>A (p.Val388Met) |
SNV |
Uncertain Significance
|
851006 |
rs782104716 |
GRCh37: 1:150064088-150064088 GRCh38: 1:150091994-150091994 |
34 |
VPS45 |
NM_007259.5(VPS45):c.257T>C (p.Leu86Pro) |
SNV |
Uncertain Significance
|
863733 |
rs782513242 |
GRCh37: 1:150044261-150044261 GRCh38: 1:150072194-150072194 |
35 |
VPS45 |
NM_007259.5(VPS45):c.695_696del (p.Tyr232fs) |
MICROSAT |
Uncertain Significance
|
864158 |
rs782700993 |
GRCh37: 1:150053429-150053430 GRCh38: 1:150081347-150081348 |
36 |
VPS45 |
NM_007259.5(VPS45):c.617G>A (p.Arg206Gln) |
SNV |
Uncertain Significance
|
952644 |
rs782495021 |
GRCh37: 1:150049787-150049787 GRCh38: 1:150077709-150077709 |
37 |
VPS45 |
NM_007259.5(VPS45):c.481G>A (p.Gly161Arg) |
SNV |
Uncertain Significance
|
960979 |
rs200134576 |
GRCh37: 1:150049214-150049214 GRCh38: 1:150077136-150077136 |
38 |
VPS45 |
NM_007259.5(VPS45):c.687G>C (p.Gln229His) |
SNV |
Uncertain Significance
|
966855 |
rs200019200 |
GRCh37: 1:150049857-150049857 GRCh38: 1:150077779-150077779 |
39 |
VPS45 |
NM_007259.5(VPS45):c.580G>A (p.Val194Met) |
SNV |
Uncertain Significance
|
970136 |
rs587713385 |
GRCh37: 1:150049750-150049750 GRCh38: 1:150077672-150077672 |
40 |
VPS45 |
NM_007259.5(VPS45):c.173A>G (p.Gln58Arg) |
SNV |
Uncertain Significance
|
991391 |
rs1654862605 |
GRCh37: 1:150040766-150040766 GRCh38: 1:150068709-150068709 |
41 |
VPS45 |
NM_007259.5(VPS45):c.353T>G (p.Val118Gly) |
SNV |
Uncertain Significance
|
991392 |
rs1298740891 |
GRCh37: 1:150048374-150048374 GRCh38: 1:150076296-150076296 |
42 |
VPS45 |
NM_007259.5(VPS45):c.419A>G (p.Asn140Ser) |
SNV |
Uncertain Significance
|
991394 |
rs782339252 |
GRCh37: 1:150049043-150049043 GRCh38: 1:150076965-150076965 |
43 |
VPS45 |
NM_007259.5(VPS45):c.443G>A (p.Arg148Gln) |
SNV |
Uncertain Significance
|
991395 |
rs370166172 |
GRCh37: 1:150049176-150049176 GRCh38: 1:150077098-150077098 |
44 |
VPS45 |
NM_007259.5(VPS45):c.462G>A (p.Gln154=) |
SNV |
Uncertain Significance
|
991396 |
rs781792682 |
GRCh37: 1:150049195-150049195 GRCh38: 1:150077117-150077117 |
45 |
VPS45 |
NM_007259.5(VPS45):c.739A>G (p.Ile247Val) |
SNV |
Uncertain Significance
|
991397 |
rs1553799320 |
GRCh37: 1:150053475-150053475 GRCh38: 1:150081393-150081393 |
46 |
VPS45 |
NM_007259.5(VPS45):c.1033C>T (p.Arg345Trp) |
SNV |
Uncertain Significance
|
991398 |
rs782225422 |
GRCh37: 1:150054896-150054896 GRCh38: 1:150082812-150082812 |
47 |
VPS45 |
NM_007259.5(VPS45):c.1133A>G (p.Lys378Arg) |
SNV |
Uncertain Significance
|
991399 |
rs190896405 |
GRCh37: 1:150064059-150064059 GRCh38: 1:150091965-150091965 |
48 |
VPS45 |
NM_007259.5(VPS45):c.1181A>G (p.His394Arg) |
SNV |
Uncertain Significance
|
991400 |
rs1486347658 |
GRCh37: 1:150064107-150064107 GRCh38: 1:150092013-150092013 |
49 |
VPS45 |
NM_007259.5(VPS45):c.613C>T (p.Arg205Cys) |
SNV |
Uncertain Significance
|
1020881 |
rs908608470 |
GRCh37: 1:150049783-150049783 GRCh38: 1:150077705-150077705 |
50 |
VPS45 |
NM_007259.5(VPS45):c.223A>G (p.Thr75Ala) |
SNV |
Uncertain Significance
|
1029151 |
rs782052786 |
GRCh37: 1:150040816-150040816 GRCh38: 1:150068759-150068759 |