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.1448A>G (p.Lys483Arg) |
SNV |
Uncertain Significance
|
834669 |
rs917642055 |
GRCh37: 1:150065699-150065699 GRCh38: 1:150093603-150093603 |
5 |
VPS45 |
NM_007259.5(VPS45):c.526C>T (p.Arg176Cys) |
SNV |
Uncertain Significance
|
853326 |
rs782677308 |
GRCh37: 1:150049259-150049259 GRCh38: 1:150077181-150077181 |
6 |
VPS45 |
NM_007259.5(VPS45):c.1481C>T (p.Thr494Ile) |
SNV |
Uncertain Significance
|
853448 |
rs1656465946 |
GRCh37: 1:150065732-150065732 GRCh38: 1:150093636-150093636 |
7 |
VPS45 |
NM_007259.5(VPS45):c.1186G>C (p.Glu396Gln) |
SNV |
Uncertain Significance
|
859122 |
rs1656350811 |
GRCh37: 1:150064112-150064112 GRCh38: 1:150092018-150092018 |
8 |
VPS45 |
NM_007259.5(VPS45):c.658G>C (p.Asp220His) |
SNV |
Uncertain Significance
|
937399 |
rs1175122293 |
GRCh37: 1:150049828-150049828 GRCh38: 1:150077750-150077750 |
9 |
VPS45 |
NM_007259.5(VPS45):c.1267G>A (p.Val423Met) |
SNV |
Uncertain Significance
|
951733 |
rs201002467 |
GRCh37: 1:150064399-150064399 GRCh38: 1:150092305-150092305 |
10 |
VPS45 |
NM_007259.5(VPS45):c.1334C>G (p.Ala445Gly) |
SNV |
Uncertain Significance
|
971292 |
rs781801888 |
GRCh37: 1:150064466-150064466 GRCh38: 1:150092372-150092372 |
11 |
VPS45 |
NM_007259.5(VPS45):c.1019G>A (p.Arg340Gln) |
SNV |
Uncertain Significance
|
971734 |
rs782749137 |
GRCh37: 1:150054882-150054882 GRCh38: 1:150082798-150082798 |
12 |
VPS45 |
NM_007259.5(VPS45):c.1418C>A (p.Thr473Asn) |
SNV |
Uncertain Significance
|
577348 |
rs1553802469 |
GRCh37: 1:150065669-150065669 GRCh38: 1:150093573-150093573 |
13 |
VPS45 |
NM_007259.5(VPS45):c.571G>A (p.Val191Ile) |
SNV |
Uncertain Significance
|
642887 |
rs200783288 |
GRCh37: 1:150049304-150049304 GRCh38: 1:150077226-150077226 |
14 |
VPS45 |
NM_007259.5(VPS45):c.1294A>C (p.Lys432Gln) |
SNV |
Uncertain Significance
|
645285 |
rs1571849671 |
GRCh37: 1:150064426-150064426 GRCh38: 1:150092332-150092332 |
15 |
VPS45 |
NM_007259.5(VPS45):c.192A>T (p.Lys64Asn) |
SNV |
Uncertain Significance
|
651412 |
rs1441537795 |
GRCh37: 1:150040785-150040785 GRCh38: 1:150068728-150068728 |
16 |
VPS45 |
NM_007259.5(VPS45):c.167A>G (p.Asp56Gly) |
SNV |
Uncertain Significance
|
659684 |
rs1278390607 |
GRCh37: 1:150040760-150040760 GRCh38: 1:150068703-150068703 |
17 |
VPS45 |
NM_007259.5(VPS45):c.596A>C (p.Tyr199Ser) |
SNV |
Uncertain Significance
|
661964 |
rs368347807 |
GRCh37: 1:150049766-150049766 GRCh38: 1:150077688-150077688 |
18 |
VPS45 |
NM_007259.5(VPS45):c.1538A>G (p.Glu513Gly) |
SNV |
Uncertain Significance
|
665696 |
rs1571879434 |
GRCh37: 1:150082655-150082655 GRCh38: 1:150110540-150110540 |
19 |
VPS45 |
NM_007259.5(VPS45):c.614G>A (p.Arg205His) |
SNV |
Uncertain Significance
|
474245 |
rs146660821 |
GRCh37: 1:150049784-150049784 GRCh38: 1:150077706-150077706 |
20 |
VPS45 |
NM_007259.5(VPS45):c.1535A>G (p.Tyr512Cys) |
SNV |
Uncertain Significance
|
626050 |
rs782797599 |
GRCh37: 1:150082652-150082652 GRCh38: 1:150110537-150110537 |
21 |
VPS45 |
NM_007259.5(VPS45):c.319G>A (p.Val107Met) |
SNV |
Uncertain Significance
|
639607 |
rs782553177 |
GRCh37: 1:150048340-150048340 GRCh38: 1:150076262-150076262 |
22 |
VPS45 |
NM_007259.5(VPS45):c.1664G>A (p.Arg555Gln) |
SNV |
Uncertain Significance
|
647655 |
rs142968690 |
GRCh37: 1:150116925-150116925 GRCh38: 1:150144747-150144747 |
23 |
VPS45 |
NM_007259.5(VPS45):c.170C>A (p.Ser57Tyr) |
SNV |
Uncertain Significance
|
659879 |
rs782358688 |
GRCh37: 1:150040763-150040763 GRCh38: 1:150068706-150068706 |
24 |
VPS45 |
NM_007259.5(VPS45):c.1190G>A (p.Arg397Gln) |
SNV |
Uncertain Significance
|
665526 |
rs373735080 |
GRCh37: 1:150064116-150064116 GRCh38: 1:150092022-150092022 |
25 |
VPS45 |
NM_007259.5(VPS45):c.1567C>T (p.Arg523Cys) |
SNV |
Uncertain Significance
|
841086 |
rs782426640 |
GRCh37: 1:150082684-150082684 GRCh38: 1:150110569-150110569 |
26 |
VPS45 |
NM_007259.5(VPS45):c.778A>G (p.Arg260Gly) |
SNV |
Uncertain Significance
|
850179 |
rs587646859 |
GRCh37: 1:150053514-150053514 GRCh38: 1:150081432-150081432 |
27 |
VPS45 |
NM_007259.5(VPS45):c.1162G>A (p.Val388Met) |
SNV |
Uncertain Significance
|
851006 |
rs782104716 |
GRCh37: 1:150064088-150064088 GRCh38: 1:150091994-150091994 |
28 |
VPS45 |
NM_007259.5(VPS45):c.257T>C (p.Leu86Pro) |
SNV |
Uncertain Significance
|
863733 |
rs782513242 |
GRCh37: 1:150044261-150044261 GRCh38: 1:150072194-150072194 |
29 |
VPS45 |
NM_007259.5(VPS45):c.695_696del (p.Tyr232fs) |
MICROSAT |
Uncertain Significance
|
864158 |
rs782700993 |
GRCh37: 1:150053429-150053430 GRCh38: 1:150081347-150081348 |
30 |
VPS45 |
NM_007259.5(VPS45):c.617G>A (p.Arg206Gln) |
SNV |
Uncertain Significance
|
952644 |
rs782495021 |
GRCh37: 1:150049787-150049787 GRCh38: 1:150077709-150077709 |
31 |
VPS45 |
NM_007259.5(VPS45):c.481G>A (p.Gly161Arg) |
SNV |
Uncertain Significance
|
960979 |
rs200134576 |
GRCh37: 1:150049214-150049214 GRCh38: 1:150077136-150077136 |
32 |
VPS45 |
NM_007259.5(VPS45):c.687G>C (p.Gln229His) |
SNV |
Uncertain Significance
|
966855 |
rs200019200 |
GRCh37: 1:150049857-150049857 GRCh38: 1:150077779-150077779 |
33 |
VPS45 |
NM_007259.5(VPS45):c.580G>A (p.Val194Met) |
SNV |
Uncertain Significance
|
970136 |
rs587713385 |
GRCh37: 1:150049750-150049750 GRCh38: 1:150077672-150077672 |
34 |
VPS45 |
NM_007259.5(VPS45):c.173A>G (p.Gln58Arg) |
SNV |
Uncertain Significance
|
991391 |
rs1654862605 |
GRCh37: 1:150040766-150040766 GRCh38: 1:150068709-150068709 |
35 |
VPS45 |
NM_007259.5(VPS45):c.353T>G (p.Val118Gly) |
SNV |
Uncertain Significance
|
991392 |
rs1298740891 |
GRCh37: 1:150048374-150048374 GRCh38: 1:150076296-150076296 |
36 |
VPS45 |
NM_007259.5(VPS45):c.419A>G (p.Asn140Ser) |
SNV |
Uncertain Significance
|
991394 |
rs782339252 |
GRCh37: 1:150049043-150049043 GRCh38: 1:150076965-150076965 |
37 |
VPS45 |
NM_007259.5(VPS45):c.443G>A (p.Arg148Gln) |
SNV |
Uncertain Significance
|
991395 |
rs370166172 |
GRCh37: 1:150049176-150049176 GRCh38: 1:150077098-150077098 |
38 |
VPS45 |
NM_007259.5(VPS45):c.462G>A (p.Gln154=) |
SNV |
Uncertain Significance
|
991396 |
rs781792682 |
GRCh37: 1:150049195-150049195 GRCh38: 1:150077117-150077117 |
39 |
VPS45 |
NM_007259.5(VPS45):c.739A>G (p.Ile247Val) |
SNV |
Uncertain Significance
|
991397 |
rs1553799320 |
GRCh37: 1:150053475-150053475 GRCh38: 1:150081393-150081393 |
40 |
VPS45 |
NM_007259.5(VPS45):c.1033C>T (p.Arg345Trp) |
SNV |
Uncertain Significance
|
991398 |
rs782225422 |
GRCh37: 1:150054896-150054896 GRCh38: 1:150082812-150082812 |
41 |
VPS45 |
NM_007259.5(VPS45):c.1133A>G (p.Lys378Arg) |
SNV |
Uncertain Significance
|
991399 |
rs190896405 |
GRCh37: 1:150064059-150064059 GRCh38: 1:150091965-150091965 |
42 |
VPS45 |
NM_007259.5(VPS45):c.1181A>G (p.His394Arg) |
SNV |
Uncertain Significance
|
991400 |
rs1486347658 |
GRCh37: 1:150064107-150064107 GRCh38: 1:150092013-150092013 |
43 |
VPS45 |
NM_007259.5(VPS45):c.613C>T (p.Arg205Cys) |
SNV |
Uncertain Significance
|
1020881 |
rs908608470 |
GRCh37: 1:150049783-150049783 GRCh38: 1:150077705-150077705 |
44 |
VPS45 |
NM_007259.5(VPS45):c.223A>G (p.Thr75Ala) |
SNV |
Uncertain Significance
|
1029151 |
rs782052786 |
GRCh37: 1:150040816-150040816 GRCh38: 1:150068759-150068759 |
45 |
VPS45 |
NM_007259.5(VPS45):c.312G>C (p.Lys104Asn) |
SNV |
Uncertain Significance
|
1387412 |
|
GRCh37: 1:150048333-150048333 GRCh38: 1:150076255-150076255 |
46 |
VPS45 |
NM_007259.5(VPS45):c.1577C>G (p.Pro526Arg) |
SNV |
Uncertain Significance
|
1381171 |
|
GRCh37: 1:150082694-150082694 GRCh38: 1:150110579-150110579 |
47 |
overlap with 11 genes |
NC_000001.10:g.(?_150044213)_(150477474_?)dup |
DUP |
Uncertain Significance
|
1411622 |
|
GRCh37: 1:150044213-150477474 GRCh38: |
48 |
VPS45 |
NM_007259.5(VPS45):c.576+4T>C |
SNV |
Uncertain Significance
|
1430772 |
|
GRCh37: 1:150049313-150049313 GRCh38: 1:150077235-150077235 |
49 |
VPS45 |
NM_007259.5(VPS45):c.466T>G (p.Ser156Ala) |
SNV |
Uncertain Significance
|
1361830 |
|
GRCh37: 1:150049199-150049199 GRCh38: 1:150077121-150077121 |
50 |
VPS45 |
NC_000001.10:g.(?_150048291)_(150082762_?)dup |
DUP |
Uncertain Significance
|
1433409 |
|
GRCh37: 1:150048291-150082762 GRCh38: |