1 |
DYNC1H1 |
NM_001376.5(DYNC1H1):c.2011A>G (p.Lys671Glu) |
SNV |
Pathogenic |
30033 |
rs387906742 |
14:102452573-102452573 |
14:101986236-101986236 |
2 |
DYNC1H1 |
NM_001376.5(DYNC1H1):c.2909A>G (p.Tyr970Cys) |
SNV |
Pathogenic |
30034 |
rs387906743 |
14:102457904-102457904 |
14:101991567-101991567 |
3 |
DYNC1H1 |
NM_001376.5(DYNC1H1):c.3603G>T (p.Arg1201Ser) |
SNV |
Pathogenic |
180211 |
rs727505393 |
14:102463410-102463410 |
14:101997073-101997073 |
4 |
BICD2 |
NM_001003800.2(BICD2):c.563A>C (p.Asn188Thr) |
SNV |
Pathogenic |
55859 |
rs398123029 |
9:95484981-95484981 |
9:92722699-92722699 |
5 |
BICD2 |
NM_001003800.2(BICD2):c.2321A>G (p.Glu774Gly) |
SNV |
Pathogenic |
55860 |
rs398123030 |
9:95477683-95477683 |
9:92715401-92715401 |
6 |
BICD2 |
NM_001003800.2(BICD2):c.1523A>C (p.Lys508Thr) |
SNV |
Pathogenic |
55861 |
rs398123031 |
9:95481404-95481404 |
9:92719122-92719122 |
7 |
BICD2 |
NM_001003800.2(BICD2):c.1502G>C (p.Arg501Pro) |
SNV |
Pathogenic |
55862 |
rs398123032 |
9:95481425-95481425 |
9:92719143-92719143 |
8 |
DYNC1H1 |
NM_001376.5(DYNC1H1):c.2327C>T (p.Pro776Leu) |
SNV |
Pathogenic |
372934 |
rs1057518083 |
14:102452889-102452889 |
14:101986552-101986552 |
9 |
DYNC1H1 |
NM_001376.5(DYNC1H1):c.1750A>C (p.Ile584Leu) |
SNV |
Pathogenic |
30032 |
rs387906741 |
14:102452312-102452312 |
14:101985975-101985975 |
10 |
BICD2 |
NM_001003800.2(BICD2):c.320C>T (p.Ser107Leu) |
SNV |
Pathogenic |
55857 |
rs398123028 |
9:95491439-95491439 |
9:92729157-92729157 |
11 |
DYNC1H1 |
NM_001376.5(DYNC1H1):c.1792C>T (p.Arg598Cys) |
SNV |
Pathogenic |
139652 |
rs587780564 |
14:102452354-102452354 |
14:101986017-101986017 |
12 |
DYNC1H1 |
NM_001376.5(DYNC1H1):c.1792C>T (p.Arg598Cys) |
SNV |
Pathogenic |
139652 |
rs587780564 |
14:102452354-102452354 |
14:101986017-101986017 |
13 |
BICD2 |
NM_001003800.2(BICD2):c.2239C>T (p.Arg747Cys) |
SNV |
Pathogenic |
637067 |
rs1587667544 |
9:95480098-95480098 |
9:92717816-92717816 |
14 |
DYNC1H1 |
NM_001376.5(DYNC1H1):c.917A>G (p.His306Arg) |
SNV |
Pathogenic |
30029 |
rs387906738 |
14:102446843-102446843 |
14:101980506-101980506 |
15 |
DYNC1H1 |
NM_001376.5(DYNC1H1):c.1195A>G (p.Arg399Gly) |
SNV |
Likely pathogenic |
637515 |
rs1595599240 |
14:102449589-102449589 |
14:101983252-101983252 |
16 |
BICD2 |
NM_001003800.2(BICD2):c.2080C>T (p.Arg694Cys) |
SNV |
Likely pathogenic |
210526 |
rs797045412 |
9:95480847-95480847 |
9:92718565-92718565 |
17 |
BICD2 |
NM_001003800.2(BICD2):c.2108C>T (p.Thr703Met) |
SNV |
Likely pathogenic |
55858 |
rs371707778 |
9:95480229-95480229 |
9:92717947-92717947 |
18 |
BICD2 |
NM_001003800.2(BICD2):c.1667A>C (p.Tyr556Ser) |
SNV |
Likely pathogenic |
647320 |
rs1587668748 |
9:95481260-95481260 |
9:92718978-92718978 |
19 |
BICD2 |
NM_001003800.2(BICD2):c.1864C>T (p.Arg622Trp) |
SNV |
Likely pathogenic |
802490 |
rs1445290655 |
9:95481063-95481063 |
9:92718781-92718781 |
20 |
BICD2 |
NM_001003800.2(BICD2):c.2200_2202del (p.Lys734del) |
Deletion |
Likely pathogenic |
982816 |
|
9:95480135-95480137 |
9:92717853-92717855 |
21 |
DYNC1H1 |
NM_001376.5(DYNC1H1):c.5885G>A (p.Arg1962His) |
SNV |
Likely pathogenic |
373213 |
rs1057518287 |
14:102474582-102474582 |
14:102008245-102008245 |
22 |
BICD2 |
NM_001003800.2(BICD2):c.1673G>C (p.Arg558Pro) |
SNV |
Likely pathogenic |
807551 |
rs1263279945 |
9:95481254-95481254 |
9:92718972-92718972 |
23 |
DYNC1H1 |
NM_001376.5(DYNC1H1):c.3170A>G (p.Tyr1057Cys) |
SNV |
Likely pathogenic |
873447 |
|
14:102461023-102461023 |
14:101994686-101994686 |
24 |
BICD2 |
NM_001003800.2(BICD2):c.1667A>G (p.Tyr556Cys) |
SNV |
Likely pathogenic |
862389 |
|
9:95481260-95481260 |
9:92718978-92718978 |
25 |
BICD2 |
NM_001003800.2(BICD2):c.484C>T (p.Arg162Cys) |
SNV |
Likely pathogenic |
916026 |
|
9:95485060-95485060 |
9:92722778-92722778 |
26 |
BICD2 |
NM_001003800.2(BICD2):c.2105A>G (p.Gln702Arg) |
SNV |
Likely pathogenic |
648279 |
rs1587668077 |
9:95480822-95480822 |
9:92718540-92718540 |
27 |
BICD2 |
NM_001003800.2(BICD2):c.1633A>G (p.Asn545Asp) |
SNV |
Likely pathogenic |
650473 |
rs1587668769 |
9:95481294-95481294 |
9:92719012-92719012 |
28 |
BICD2 |
NM_001003800.2(BICD2):c.1993G>T (p.Val665Leu) |
SNV |
Conflicting interpretations of pathogenicity |
155729 |
rs587777885 |
9:95480934-95480934 |
9:92718652-92718652 |
29 |
DYNC1H1 |
NM_001376.5(DYNC1H1):c.2376C>T (p.Cys792=) |
SNV |
Uncertain significance |
516911 |
rs35092963 |
14:102452938-102452938 |
14:101986601-101986601 |
30 |
BICD2 |
NM_001003800.2(BICD2):c.761A>G (p.Lys254Arg) |
SNV |
Uncertain significance |
424684 |
rs1367809298 |
9:95482883-95482883 |
9:92720601-92720601 |
31 |
DYNC1H1 |
NM_001376.5(DYNC1H1):c.5985C>T (p.Ala1995=) |
SNV |
Uncertain significance |
210873 |
rs140841480 |
14:102476187-102476187 |
14:102009850-102009850 |
32 |
BICD2 |
NM_001003800.2(BICD2):c.1063A>T (p.Met355Leu) |
SNV |
Uncertain significance |
639270 |
rs767226677 |
9:95481864-95481864 |
9:92719582-92719582 |
33 |
BICD2 |
NM_001003800.2(BICD2):c.1438G>A (p.Ala480Thr) |
SNV |
Uncertain significance |
439434 |
rs140188204 |
9:95481489-95481489 |
9:92719207-92719207 |
34 |
BICD2 |
NM_001003800.2(BICD2):c.485G>A (p.Arg162His) |
SNV |
Uncertain significance |
565772 |
rs761506224 |
9:95485059-95485059 |
9:92722777-92722777 |
35 |
BICD2 |
NM_001003800.2(BICD2):c.2465C>T (p.Pro822Leu) |
SNV |
Uncertain significance |
567197 |
rs768524403 |
9:95477539-95477539 |
9:92715257-92715257 |
36 |
BICD2 |
NM_001003800.2(BICD2):c.1582G>A (p.Val528Met) |
SNV |
Uncertain significance |
570088 |
rs908773556 |
9:95481345-95481345 |
9:92719063-92719063 |
37 |
BICD2 |
NM_001003800.2(BICD2):c.1400A>G (p.His467Arg) |
SNV |
Uncertain significance |
572339 |
rs1564060261 |
9:95481527-95481527 |
9:92719245-92719245 |
38 |
BICD2 |
NM_001003800.2(BICD2):c.809C>T (p.Ser270Phe) |
SNV |
Uncertain significance |
573674 |
rs375710311 |
9:95482835-95482835 |
9:92720553-92720553 |
39 |
BICD2 |
NM_001003800.2(BICD2):c.1709_1726del (p.Gly570_Pro575del) |
Deletion |
Uncertain significance |
575432 |
rs1333312158 |
9:95481201-95481218 |
9:92718919-92718936 |
40 |
BICD2 |
NM_001003800.2(BICD2):c.2347C>T (p.Arg783Cys) |
SNV |
Uncertain significance |
578676 |
rs144944522 |
9:95477657-95477657 |
9:92715375-92715375 |
41 |
BICD2 |
NM_001003800.2(BICD2):c.1637A>G (p.Asn546Ser) |
SNV |
Uncertain significance |
579488 |
rs1370503586 |
9:95481290-95481290 |
9:92719008-92719008 |
42 |
BICD2 |
NM_001003800.2(BICD2):c.1649A>G (p.Asn550Ser) |
SNV |
Uncertain significance |
582447 |
rs754018322 |
9:95481278-95481278 |
9:92718996-92718996 |
43 |
DYNC1H1 |
NM_001376.5(DYNC1H1):c.13414G>A (p.Gly4472Ser) |
SNV |
Uncertain significance |
539761 |
rs199692678 |
14:102515818-102515818 |
14:102049481-102049481 |
44 |
DYNC1H1 |
NM_001376.5(DYNC1H1):c.12192G>A (p.Thr4064=) |
SNV |
Uncertain significance |
625933 |
rs114906811 |
14:102508439-102508439 |
14:102042102-102042102 |
45 |
BICD2 |
NM_001003800.2(BICD2):c.1478_1479delinsTT (p.Arg493Leu) |
Indel |
Uncertain significance |
644243 |
rs1587668960 |
9:95481448-95481449 |
9:92719166-92719167 |
46 |
BICD2 |
NM_001003800.2(BICD2):c.16GAG[3] (p.Glu9del) |
Microsatellite |
Uncertain significance |
969431 |
|
9:95527000-95527002 |
9:92764718-92764720 |
47 |
DYNC1H1 |
NM_001376.5(DYNC1H1):c.9607G>A (p.Val3203Met) |
SNV |
Uncertain significance |
565727 |
rs1567017825 |
14:102496014-102496014 |
14:102029677-102029677 |
48 |
BICD2 |
NM_001003800.2(BICD2):c.1376C>T (p.Thr459Met) |
SNV |
Uncertain significance |
439432 |
rs777065935 |
9:95481551-95481551 |
9:92719269-92719269 |
49 |
DYNC1H1 |
NM_001376.5(DYNC1H1):c.7918G>A (p.Glu2640Lys) |
SNV |
Uncertain significance |
210882 |
rs797045535 |
14:102483494-102483494 |
14:102017157-102017157 |
50 |
BICD2 |
NM_001003800.2(BICD2):c.638A>G (p.Lys213Arg) |
SNV |
Uncertain significance |
453157 |
rs755962512 |
9:95483006-95483006 |
9:92720724-92720724 |