1 |
FOXP1
|
NC_000003.10: g.(71109689_?)_(?_71508061)del
|
deletion |
Pathogenic |
|
NCBI36 |
Chromosome 3, 71109689: 71508061 |
2 |
FOXP1
|
NM_032682.5(FOXP1): c.1573C> T (p.Arg525Ter)
|
single nucleotide variant |
Pathogenic |
rs112795301
|
GRCh37 |
Chromosome 3, 71021785: 71021785 |
3 |
FOXP1
|
NM_032682.5(FOXP1): c.1573C> T (p.Arg525Ter)
|
single nucleotide variant |
Pathogenic |
rs112795301
|
GRCh38 |
Chromosome 3, 70972634: 70972634 |
4 |
FOXP1
|
NM_032682.5(FOXP1): c.1670_1685dup16 (p.Ser562Argfs)
|
duplication |
Pathogenic |
rs398124429
|
GRCh37 |
Chromosome 3, 71019924: 71019939 |
5 |
FOXP1
|
NM_032682.5(FOXP1): c.1670_1685dup16 (p.Ser562Argfs)
|
duplication |
Pathogenic |
rs398124429
|
GRCh38 |
Chromosome 3, 70970773: 70970788 |
6 |
FOXP1
|
NM_032682.5(FOXP1): c.1267_1268delGT (p.Val423Hisfs)
|
deletion |
Likely pathogenic |
rs786200948
|
GRCh37 |
Chromosome 3, 71027059: 71027060 |
7 |
FOXP1
|
NM_032682.5(FOXP1): c.1267_1268delGT (p.Val423Hisfs)
|
deletion |
Likely pathogenic |
rs786200948
|
GRCh38 |
Chromosome 3, 70977908: 70977909 |
8 |
FOXP1
|
NC_000003.12: g.70992485_71180270del187786
|
deletion |
Pathogenic |
|
GRCh38 |
Chromosome 3, 70992485: 71180270 |
9 |
FOXP1
|
NM_032682.5(FOXP1): c.1600T> C (p.Trp534Arg)
|
single nucleotide variant |
Pathogenic |
rs587777855
|
GRCh38 |
Chromosome 3, 70972607: 70972607 |
10 |
FOXP1
|
NM_032682.5(FOXP1): c.1600T> C (p.Trp534Arg)
|
single nucleotide variant |
Pathogenic |
rs587777855
|
GRCh37 |
Chromosome 3, 71021758: 71021758 |
11 |
FOXP1
|
NM_032682.5(FOXP1): c.1317C> A (p.Tyr439Ter)
|
single nucleotide variant |
Pathogenic |
rs794727155
|
GRCh37 |
Chromosome 3, 71027010: 71027010 |
12 |
FOXP1
|
NM_032682.5(FOXP1): c.1317C> A (p.Tyr439Ter)
|
single nucleotide variant |
Pathogenic |
rs794727155
|
GRCh38 |
Chromosome 3, 70977859: 70977859 |
13 |
FOXP1
|
NM_032682.5(FOXP1): c.1240dupC (p.Leu414Profs)
|
duplication |
Pathogenic |
rs797044652
|
GRCh37 |
Chromosome 3, 71027087: 71027087 |
14 |
FOXP1
|
NM_032682.5(FOXP1): c.1240dupC (p.Leu414Profs)
|
duplication |
Pathogenic |
rs797044652
|
GRCh38 |
Chromosome 3, 70977936: 70977936 |
15 |
FOXP1
|
NM_032682.5(FOXP1): c.1624C> T (p.Gln542Ter)
|
single nucleotide variant |
Pathogenic |
rs794727215
|
GRCh37 |
Chromosome 3, 71021734: 71021734 |
16 |
FOXP1
|
NM_032682.5(FOXP1): c.1624C> T (p.Gln542Ter)
|
single nucleotide variant |
Pathogenic |
rs794727215
|
GRCh38 |
Chromosome 3, 70972583: 70972583 |
17 |
FOXP1
|
NM_032682.5(FOXP1): c.1541G> A (p.Arg514His)
|
single nucleotide variant |
Pathogenic/Likely pathogenic |
rs797045586
|
GRCh37 |
Chromosome 3, 71021817: 71021817 |
18 |
FOXP1
|
NM_032682.5(FOXP1): c.1541G> A (p.Arg514His)
|
single nucleotide variant |
Pathogenic/Likely pathogenic |
rs797045586
|
GRCh38 |
Chromosome 3, 70972666: 70972666 |
19 |
FOXP1
|
NM_032682.5(FOXP1): c.1507C> T (p.Arg503Ter)
|
single nucleotide variant |
Pathogenic |
rs797045584
|
GRCh38 |
Chromosome 3, 70976964: 70976964 |
20 |
FOXP1
|
NM_032682.5(FOXP1): c.1507C> T (p.Arg503Ter)
|
single nucleotide variant |
Pathogenic |
rs797045584
|
GRCh37 |
Chromosome 3, 71026115: 71026115 |
21 |
FOXP1
|
NM_032682.5(FOXP1): c.1540C> T (p.Arg514Cys)
|
single nucleotide variant |
Pathogenic |
rs869025203
|
GRCh37 |
Chromosome 3, 71021818: 71021818 |
22 |
FOXP1
|
NM_032682.5(FOXP1): c.1540C> T (p.Arg514Cys)
|
single nucleotide variant |
Pathogenic |
rs869025203
|
GRCh38 |
Chromosome 3, 70972667: 70972667 |
23 |
FOXP1
|
NM_032682.5(FOXP1): c.1393A> G (p.Arg465Gly)
|
single nucleotide variant |
Pathogenic |
rs869025202
|
GRCh37 |
Chromosome 3, 71026829: 71026829 |
24 |
FOXP1
|
NM_032682.5(FOXP1): c.1393A> G (p.Arg465Gly)
|
single nucleotide variant |
Pathogenic |
rs869025202
|
GRCh38 |
Chromosome 3, 70977678: 70977678 |
25 |
FOXP1
|
NM_032682.5(FOXP1): c.1317C> G (p.Tyr439Ter)
|
single nucleotide variant |
Pathogenic |
rs794727155
|
GRCh37 |
Chromosome 3, 71027010: 71027010 |
26 |
FOXP1
|
NM_032682.5(FOXP1): c.1317C> G (p.Tyr439Ter)
|
single nucleotide variant |
Pathogenic |
rs794727155
|
GRCh38 |
Chromosome 3, 70977859: 70977859 |
27 |
FOXP1
|
NM_032682.5(FOXP1): c.1349-5_1350del
|
deletion |
Pathogenic |
rs1135401796
|
GRCh37 |
Chromosome 3, 71026872: 71026878 |
28 |
FOXP1
|
NM_032682.5(FOXP1): c.1349-5_1350del
|
deletion |
Pathogenic |
rs1135401796
|
GRCh38 |
Chromosome 3, 70977721: 70977727 |
29 |
FOXP1
|
NM_001244808.1(FOXP1): c.869+1G> A
|
single nucleotide variant |
Pathogenic |
rs763837297
|
GRCh37 |
Chromosome 3, 71090478: 71090478 |
30 |
FOXP1
|
NM_001244808.1(FOXP1): c.869+1G> A
|
single nucleotide variant |
Pathogenic |
rs763837297
|
GRCh38 |
Chromosome 3, 71041327: 71041327 |
31 |
FOXP1
|
NM_032682.5(FOXP1): c.606delA (p.Gly203Alafs)
|
deletion |
Pathogenic |
|
GRCh38 |
Chromosome 3, 71047000: 71047000 |
32 |
FOXP1
|
NM_032682.5(FOXP1): c.606delA (p.Gly203Alafs)
|
deletion |
Pathogenic |
|
GRCh37 |
Chromosome 3, 71096151: 71096151 |
33 |
FOXP1
|
NM_032682.5(FOXP1): c.975-2A> C
|
single nucleotide variant |
Pathogenic |
|
GRCh37 |
Chromosome 3, 71050212: 71050212 |
34 |
FOXP1
|
NM_032682.5(FOXP1): c.975-2A> C
|
single nucleotide variant |
Pathogenic |
|
GRCh38 |
Chromosome 3, 71001061: 71001061 |
35 |
FOXP1
|
NM_032682.5(FOXP1): c.622C> T (p.Gln208Ter)
|
single nucleotide variant |
Pathogenic |
|
GRCh38 |
Chromosome 3, 71046984: 71046984 |
36 |
FOXP1
|
NM_032682.5(FOXP1): c.622C> T (p.Gln208Ter)
|
single nucleotide variant |
Pathogenic |
|
GRCh37 |
Chromosome 3, 71096135: 71096135 |
37 |
FOXP1
|
NM_032682.5(FOXP1): c.1329C> A (p.Tyr443Ter)
|
single nucleotide variant |
Pathogenic |
rs1064793944
|
GRCh38 |
Chromosome 3, 70977847: 70977847 |
38 |
FOXP1
|
NM_032682.5(FOXP1): c.1329C> A (p.Tyr443Ter)
|
single nucleotide variant |
Pathogenic |
rs1064793944
|
GRCh37 |
Chromosome 3, 71026998: 71026998 |
39 |
FOXP1
|
NM_032682.5(FOXP1): c.1574G> A (p.Arg525Gln)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
|
GRCh37 |
Chromosome 3, 71021784: 71021784 |
40 |
FOXP1
|
NM_032682.5(FOXP1): c.1574G> A (p.Arg525Gln)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
|
GRCh38 |
Chromosome 3, 70972633: 70972633 |
41 |
FOXP1
|
NM_001244815.1(FOXP1): c.131C> T (p.Thr44Met)
|
single nucleotide variant |
Uncertain significance |
|
GRCh37 |
Chromosome 3, 71179704: 71179704 |
42 |
FOXP1
|
NM_001244815.1(FOXP1): c.131C> T (p.Thr44Met)
|
single nucleotide variant |
Uncertain significance |
|
GRCh38 |
Chromosome 3, 71130553: 71130553 |
43 |
FOXP1
|
NM_032682.5(FOXP1): c.1394G> C (p.Arg465Thr)
|
single nucleotide variant |
Pathogenic |
|
GRCh37 |
Chromosome 3, 71026828: 71026828 |
44 |
FOXP1
|
NM_032682.5(FOXP1): c.1394G> C (p.Arg465Thr)
|
single nucleotide variant |
Pathogenic |
|
GRCh38 |
Chromosome 3, 70977677: 70977677 |
45 |
FOXP1
|
NM_032682.5(FOXP1): c.1568T> C (p.Phe523Ser)
|
single nucleotide variant |
Uncertain significance |
|
GRCh37 |
Chromosome 3, 71021790: 71021790 |
46 |
FOXP1
|
NM_032682.5(FOXP1): c.1568T> C (p.Phe523Ser)
|
single nucleotide variant |
Uncertain significance |
|
GRCh38 |
Chromosome 3, 70972639: 70972639 |
47 |
FOXP1
|
NM_032682.5(FOXP1): c.1653-2A> T
|
single nucleotide variant |
Pathogenic |
|
GRCh37 |
Chromosome 3, 71019958: 71019958 |
48 |
FOXP1
|
NM_032682.5(FOXP1): c.1653-2A> T
|
single nucleotide variant |
Pathogenic |
|
GRCh38 |
Chromosome 3, 70970807: 70970807 |
49 |
FOXP1
|
NM_032682.5(FOXP1): c.1291_1292del (p.Thr431Glyfs)
|
deletion |
Pathogenic |
|
GRCh37 |
Chromosome 3, 71027034: 71027036 |
50 |
FOXP1
|
NM_032682.5(FOXP1): c.1291_1292del (p.Thr431Glyfs)
|
deletion |
Pathogenic |
|
GRCh38 |
Chromosome 3, 70977884: 70977885 |