1 |
GFI1 |
NM_005263.5(GFI1):c.1145A>G (p.Asn382Ser) |
SNV |
Pathogenic
|
8739 |
rs28936381 |
GRCh37: 1:92941710-92941710 GRCh38: 1:92476153-92476153 |
2 |
GFI1 |
NM_005263.5(GFI1):c.1250C>T (p.Thr417Met) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
801501 |
rs777241871 |
GRCh37: 1:92941605-92941605 GRCh38: 1:92476048-92476048 |
3 |
GFI1 |
NM_005263.5(GFI1):c.191C>A (p.Ala64Asp) |
SNV |
Uncertain Significance
|
834993 |
rs1658344685 |
GRCh37: 1:92948528-92948528 GRCh38: 1:92482971-92482971 |
4 |
GFI1 |
NM_005263.5(GFI1):c.49C>G (p.Gln17Glu) |
SNV |
Uncertain Significance
|
1040579 |
rs750251158 |
GRCh37: 1:92948996-92948996 GRCh38: 1:92483439-92483439 |
5 |
GFI1 |
NM_005263.5(GFI1):c.736A>G (p.Thr246Ala) |
SNV |
Uncertain Significance
|
1042613 |
rs764922701 |
GRCh37: 1:92946208-92946208 GRCh38: 1:92480651-92480651 |
6 |
GFI1 |
NM_005263.5(GFI1):c.494C>A (p.Ala165Asp) |
SNV |
Uncertain Significance
|
949284 |
rs773178468 |
GRCh37: 1:92946450-92946450 GRCh38: 1:92480893-92480893 |
7 |
GFI1 |
NM_005263.5(GFI1):c.52C>T (p.Pro18Ser) |
SNV |
Uncertain Significance
|
1030898 |
rs1658381767 |
GRCh37: 1:92948993-92948993 GRCh38: 1:92483436-92483436 |
8 |
GFI1 |
NC_000001.10:g.(?_92941566)_(92949064_?)del |
DEL |
Uncertain Significance
|
1042060 |
|
GRCh37: 1:92941566-92949064 GRCh38: |
9 |
GFI1 |
NM_005263.5(GFI1):c.757G>A (p.Gly253Ser) |
SNV |
Uncertain Significance
|
1461345 |
|
GRCh37: 1:92946187-92946187 GRCh38: 1:92480630-92480630 |
10 |
GFI1 |
NM_005263.5(GFI1):c.208G>T (p.Ala70Ser) |
SNV |
Uncertain Significance
|
1487323 |
|
GRCh37: 1:92948511-92948511 GRCh38: 1:92482954-92482954 |
11 |
GFI1 |
NM_005263.5(GFI1):c.713A>G (p.Lys238Arg) |
SNV |
Uncertain Significance
|
1508738 |
|
GRCh37: 1:92946231-92946231 GRCh38: 1:92480674-92480674 |
12 |
GFI1 |
NM_005263.5(GFI1):c.233G>C (p.Ser78Thr) |
SNV |
Uncertain Significance
|
1517491 |
|
GRCh37: 1:92948486-92948486 GRCh38: 1:92482929-92482929 |
13 |
GFI1 |
NM_005263.5(GFI1):c.868G>C (p.Gly290Arg) |
SNV |
Uncertain Significance
|
1497955 |
|
GRCh37: 1:92945961-92945961 GRCh38: 1:92480404-92480404 |
14 |
GFI1 |
NM_005263.5(GFI1):c.532G>A (p.Gly178Arg) |
SNV |
Uncertain Significance
|
1348482 |
|
GRCh37: 1:92946412-92946412 GRCh38: 1:92480855-92480855 |
15 |
GFI1 |
NM_005263.5(GFI1):c.541G>A (p.Ala181Thr) |
SNV |
Uncertain Significance
|
1163738 |
|
GRCh37: 1:92946403-92946403 GRCh38: 1:92480846-92480846 |
16 |
GFI1 |
NM_005263.5(GFI1):c.461dup (p.Cys155fs) |
DUP |
Uncertain Significance
|
1045987 |
rs1658216855 |
GRCh37: 1:92946482-92946483 GRCh38: 1:92480925-92480926 |
17 |
GFI1 |
NM_005263.5(GFI1):c.938A>G (p.Asp313Gly) |
SNV |
Uncertain Significance
|
566000 |
rs376042061 |
GRCh37: 1:92944297-92944297 GRCh38: 1:92478740-92478740 |
18 |
GFI1 |
NM_005263.5(GFI1):c.682G>C (p.Gly228Arg) |
SNV |
Uncertain Significance
|
643828 |
rs779127899 |
GRCh37: 1:92946262-92946262 GRCh38: 1:92480705-92480705 |
19 |
GFI1 |
NM_005263.5(GFI1):c.796A>G (p.Thr266Ala) |
SNV |
Uncertain Significance
|
947502 |
rs1658175649 |
GRCh37: 1:92946033-92946033 GRCh38: 1:92480476-92480476 |
20 |
GFI1 |
NM_005263.5(GFI1):c.477G>A (p.Pro159=) |
SNV |
Uncertain Significance
|
581490 |
rs1249429892 |
GRCh37: 1:92946467-92946467 GRCh38: 1:92480910-92480910 |
21 |
GFI1 |
NM_005263.5(GFI1):c.603C>T (p.Gly201=) |
SNV |
Uncertain Significance
|
643429 |
rs1230474672 |
GRCh37: 1:92946341-92946341 GRCh38: 1:92480784-92480784 |
22 |
GFI1 |
NM_005263.5(GFI1):c.440G>T (p.Arg147Leu) |
SNV |
Uncertain Significance
|
644864 |
rs1367385969 |
GRCh37: 1:92946504-92946504 GRCh38: 1:92480947-92480947 |
23 |
GFI1 |
NM_005263.5(GFI1):c.854C>T (p.Ala285Val) |
SNV |
Uncertain Significance
|
644949 |
rs767464450 |
GRCh37: 1:92945975-92945975 GRCh38: 1:92480418-92480418 |
24 |
GFI1 |
NM_005263.5(GFI1):c.431C>G (p.Ala144Gly) |
SNV |
Uncertain Significance
|
435318 |
rs533176227 |
GRCh37: 1:92946513-92946513 GRCh38: 1:92480956-92480956 |
25 |
GFI1 |
NM_005263.5(GFI1):c.577G>T (p.Ala193Ser) |
SNV |
Uncertain Significance
|
1030899 |
rs765205557 |
GRCh37: 1:92946367-92946367 GRCh38: 1:92480810-92480810 |
26 |
GFI1 |
NM_005263.5(GFI1):c.210_221del (p.Ser71_Ser74del) |
DEL |
Uncertain Significance
|
1362512 |
|
GRCh37: 1:92948498-92948509 GRCh38: 1:92482941-92482952 |
27 |
GFI1 |
NM_005263.5(GFI1):c.617C>T (p.Ala206Val) |
SNV |
Uncertain Significance
|
1419937 |
|
GRCh37: 1:92946327-92946327 GRCh38: 1:92480770-92480770 |
28 |
GFI1 |
NM_005263.5(GFI1):c.528C>T (p.Gly176=) |
SNV |
Uncertain Significance
|
1413742 |
|
GRCh37: 1:92946416-92946416 GRCh38: 1:92480859-92480859 |
29 |
GFI1 |
NM_005263.5(GFI1):c.109C>G (p.Arg37Gly) |
SNV |
Uncertain Significance
|
1405692 |
|
GRCh37: 1:92948936-92948936 GRCh38: 1:92483379-92483379 |
30 |
GFI1 |
NM_005263.5(GFI1):c.1172C>T (p.Thr391Ile) |
SNV |
Uncertain Significance
|
1417552 |
|
GRCh37: 1:92941683-92941683 GRCh38: 1:92476126-92476126 |
31 |
GFI1 |
NM_005263.5(GFI1):c.837C>G (p.Ser279Arg) |
SNV |
Uncertain Significance
|
1365380 |
|
GRCh37: 1:92945992-92945992 GRCh38: 1:92480435-92480435 |
32 |
GFI1 |
NM_005263.5(GFI1):c.46C>T (p.His16Tyr) |
SNV |
Uncertain Significance
|
1422577 |
|
GRCh37: 1:92948999-92948999 GRCh38: 1:92483442-92483442 |
33 |
GFI1 |
NM_005263.5(GFI1):c.714G>T (p.Lys238Asn) |
SNV |
Uncertain Significance
|
1430464 |
|
GRCh37: 1:92946230-92946230 GRCh38: 1:92480673-92480673 |
34 |
GFI1 |
NM_005263.5(GFI1):c.484G>A (p.Gly162Ser) |
SNV |
Uncertain Significance
|
1462641 |
|
GRCh37: 1:92946460-92946460 GRCh38: 1:92480903-92480903 |
35 |
GFI1 |
NM_005263.5(GFI1):c.219C>G (p.Asp73Glu) |
SNV |
Uncertain Significance
|
1463313 |
|
GRCh37: 1:92948500-92948500 GRCh38: 1:92482943-92482943 |
36 |
GFI1 |
NM_005263.5(GFI1):c.347C>G (p.Pro116Arg) |
SNV |
Uncertain Significance
|
1463641 |
|
GRCh37: 1:92946597-92946597 GRCh38: 1:92481040-92481040 |
37 |
GFI1 |
NM_005263.5(GFI1):c.322T>C (p.Ser108Pro) |
SNV |
Uncertain Significance
|
1465189 |
|
GRCh37: 1:92946622-92946622 GRCh38: 1:92481065-92481065 |
38 |
GFI1 |
NM_005263.5(GFI1):c.835A>G (p.Ser279Gly) |
SNV |
Uncertain Significance
|
1473861 |
|
GRCh37: 1:92945994-92945994 GRCh38: 1:92480437-92480437 |
39 |
GFI1 |
NM_005263.5(GFI1):c.943A>G (p.Lys315Glu) |
SNV |
Uncertain Significance
|
1484041 |
|
GRCh37: 1:92944292-92944292 GRCh38: 1:92478735-92478735 |
40 |
GFI1 |
NM_005263.5(GFI1):c.1082T>C (p.Ile361Thr) |
SNV |
Uncertain Significance
|
1495351 |
|
GRCh37: 1:92944153-92944153 GRCh38: 1:92478596-92478596 |
41 |
GFI1 |
NM_005263.5(GFI1):c.533G>C (p.Gly178Ala) |
SNV |
Uncertain Significance
|
1501248 |
|
GRCh37: 1:92946411-92946411 GRCh38: 1:92480854-92480854 |
42 |
GFI1 |
NM_005263.5(GFI1):c.181C>G (p.Leu61Val) |
SNV |
Uncertain Significance
|
1515128 |
|
GRCh37: 1:92948538-92948538 GRCh38: 1:92482981-92482981 |
43 |
GFI1 |
NM_005263.5(GFI1):c.187G>A (p.Glu63Lys) |
SNV |
Uncertain Significance
|
1516040 |
|
GRCh37: 1:92948532-92948532 GRCh38: 1:92482975-92482975 |
44 |
GFI1 |
NM_005263.5(GFI1):c.201_221dup (p.Arg67_Asp73dup) |
DUP |
Uncertain Significance
|
1350265 |
|
GRCh37: 1:92948497-92948498 GRCh38: 1:92482940-92482941 |
45 |
GFI1 |
NM_005263.5(GFI1):c.534G>T (p.Gly178=) |
SNV |
Uncertain Significance
|
840261 |
rs1658207859 |
GRCh37: 1:92946410-92946410 GRCh38: 1:92480853-92480853 |
46 |
GFI1 |
NM_005263.5(GFI1):c.571G>A (p.Ala191Thr) |
SNV |
Uncertain Significance
|
840484 |
rs1426616222 |
GRCh37: 1:92946373-92946373 GRCh38: 1:92480816-92480816 |
47 |
GFI1 |
NM_005263.5(GFI1):c.74A>G (p.Tyr25Cys) |
SNV |
Uncertain Significance
|
864714 |
rs375422035 |
GRCh37: 1:92948971-92948971 GRCh38: 1:92483414-92483414 |
48 |
GFI1 |
NM_005263.5(GFI1):c.569G>C (p.Gly190Ala) |
SNV |
Uncertain Significance
|
943387 |
rs528437159 |
GRCh37: 1:92946375-92946375 GRCh38: 1:92480818-92480818 |
49 |
GFI1 |
NM_005263.5(GFI1):c.1076C>T (p.Thr359Ile) |
SNV |
Uncertain Significance
|
946598 |
rs1234266152 |
GRCh37: 1:92944159-92944159 GRCh38: 1:92478602-92478602 |
50 |
GFI1 |
NM_005263.5(GFI1):c.797C>T (p.Thr266Met) |
SNV |
Uncertain Significance
|
949003 |
rs1658175470 |
GRCh37: 1:92946032-92946032 GRCh38: 1:92480475-92480475 |