1 |
MKS1
|
NM_017777.3(MKS1): c.1112_1114del (p.Phe371del)
|
deletion |
Pathogenic |
rs587777804
|
17:56285517-56285519 |
17:58208156-58208158 |
2 |
MKS1
|
NM_017777.3(MKS1): c.1115_1117del (p.Ser372del)
|
deletion |
Pathogenic/Likely pathogenic |
rs754279998
|
17:56285514-56285516 |
17:58208153-58208155 |
3 |
MKS1
|
NM_017777.3(MKS1): c.829G> T (p.Glu277Ter)
|
single nucleotide variant |
Pathogenic/Likely pathogenic |
rs1555599412
|
17:56290372-56290372 |
17:58213011-58213011 |
4 |
MKS1
|
NM_017777.3(MKS1): c.515+1G> A
|
single nucleotide variant |
Pathogenic/Likely pathogenic |
rs201933838
|
17:56292101-56292101 |
17:58214740-58214740 |
5 |
MKS1
|
NM_017777.3(MKS1): c.1025-2A> C
|
single nucleotide variant |
Pathogenic/Likely pathogenic |
rs794727070
|
17:56285946-56285946 |
17:58208585-58208585 |
6 |
MKS1
|
NM_017777.3(MKS1): c.844C> T (p.Arg282Ter)
|
single nucleotide variant |
Pathogenic/Likely pathogenic |
rs797045706
|
17:56290357-56290357 |
17:58212996-58212996 |
7 |
MKS1
|
NM_017777.3(MKS1): c.508C> T (p.Arg170Ter)
|
single nucleotide variant |
Likely pathogenic |
rs756853299
|
17:56292109-56292109 |
17:58214748-58214748 |
8 |
MKS1
|
NM_017777.3(MKS1): c.51_55dup (p.Asp19fs)
|
duplication |
Likely pathogenic |
rs386834051
|
17:56296537-56296541 |
17:58219176-58219180 |
9 |
MKS1
|
NM_017777.3(MKS1): c.1434_1462del (p.Arg479fs)
|
deletion |
Likely pathogenic |
rs1555596845
|
17:56283853-56283882 |
17:58206493-58206521 |
10 |
MKS1
|
NM_017777.3(MKS1): c.1408-2A> G
|
single nucleotide variant |
Likely pathogenic |
rs1555596943
|
17:56283910-56283910 |
17:58206549-58206549 |
11 |
MKS1
|
NM_017777.3(MKS1): c.80+2T> C
|
single nucleotide variant |
Likely pathogenic |
rs386834052
|
17:56296510-56296510 |
17:58219149-58219149 |
12 |
MKS1
|
NM_017777.3(MKS1): c.1024+1G> A
|
single nucleotide variant |
Likely pathogenic |
rs199874059
|
17:56288019-56288019 |
17:58210658-58210658 |
13 |
MKS1
|
NM_017777.3(MKS1): c.1A> G (p.Met1Val)
|
single nucleotide variant |
Likely pathogenic |
rs1555601787
|
17:56296591-56296591 |
17:58219230-58219230 |
14 |
MKS1
|
NM_017777.3(MKS1): c.858+1G> A
|
single nucleotide variant |
Likely pathogenic |
rs756102768
|
17:56290342-56290342 |
17:58212981-58212981 |
15 |
MKS1
|
NM_017777.3(MKS1): c.515+2T> G
|
single nucleotide variant |
Likely pathogenic |
rs1376664664
|
17:56292100-56292100 |
17:58214739-58214739 |
16 |
MKS1
|
NM_017777.3(MKS1): c.190+2T> C
|
single nucleotide variant |
Likely pathogenic |
rs375170572
|
17:56295979-56295979 |
17:58218618-58218618 |
17 |
MKS1
|
NM_017777.3(MKS1): c.1394del (p.Pro465fs)
|
deletion |
Likely pathogenic |
rs865870355
|
17:56284459-56284459 |
17:58207098-58207098 |
18 |
MKS1
|
NM_017777.3(MKS1): c.367dup (p.Arg123fs)
|
duplication |
Likely pathogenic |
rs775043799
|
17:56293499-56293499 |
17:58216138-58216138 |
19 |
MKS1
|
NM_017777.3(MKS1): c.1166-2A> G
|
single nucleotide variant |
Likely pathogenic |
rs1488635637
|
17:56285364-56285364 |
17:58208003-58208003 |
20 |
MKS1
|
NM_017777.3(MKS1): c.184_190del (p.Thr62fs)
|
deletion |
Likely pathogenic |
rs386834046
|
17:56295981-56295987 |
17:58218620-58218626 |
21 |
MKS1
|
NM_017777.3(MKS1): c.1063A> G (p.Thr355Ala)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs745809472
|
17:56285906-56285906 |
17:58208545-58208545 |
22 |
MKS1
|
NM_017777.3(MKS1): c.80+14C> G
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs761061379
|
17:56296498-56296498 |
17:58219137-58219137 |
23 |
MKS1
|
NM_017777.3(MKS1): c.493C> T (p.Arg165Cys)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs779953982
|
17:56292124-56292124 |
17:58214763-58214763 |
24 |
MKS1
|
NM_017777.3(MKS1): c.233T> G (p.Ile78Ser)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs786204222
|
17:56294055-56294055 |
17:58216694-58216694 |
25 |
MKS1
|
NM_017777.3(MKS1): c.1408-34_1408-6del
|
deletion |
Conflicting interpretations of pathogenicity |
rs386834043
|
17:56283914-56283942 |
17:58206553-58206581 |
26 |
MKS1
|
NM_017777.3(MKS1): c.417G> A (p.Glu139=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs386834048
|
17:56293449-56293449 |
17:58216088-58216088 |
27 |
MKS1
|
NM_017777.3(MKS1): c.1476T> G (p.Cys492Trp)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs137853105
|
17:56283840-56283840 |
17:58206479-58206479 |
28 |
MKS1
|
NM_017777.3(MKS1): c.1407+3_1407+5delinsAAT
|
indel |
Uncertain significance |
rs1555597194
|
17:56284440-56284443 |
17:58207080-58207082 |
29 |
MKS1
|
NM_017777.3(MKS1): c.-34_-12del
|
deletion |
Uncertain significance |
rs1244307754
|
17:56296602-56296625 |
17:58219242-58219264 |
30 |
MKS1
|
NM_017777.3(MKS1): c.1382A> G (p.Tyr461Cys)
|
single nucleotide variant |
Uncertain significance |
rs730882120
|
17:56284471-56284471 |
17:58207110-58207110 |
31 |
MKS1
|
NM_017777.3(MKS1): c.1601G> A (p.Arg534Gln)
|
single nucleotide variant |
Uncertain significance |
rs199910690
|
17:56283519-56283519 |
17:58206158-58206158 |
32 |
MKS1
|
NM_017777.3(MKS1): c.368G> A (p.Arg123Gln)
|
single nucleotide variant |
Uncertain significance |
rs202112856
|
17:56293498-56293498 |
17:58216137-58216137 |
33 |
MKS1
|
NM_017777.3(MKS1): c.544G> A (p.Val182Ile)
|
single nucleotide variant |
Uncertain significance |
rs200185068
|
17:56291720-56291720 |
17:58214359-58214359 |
34 |
MKS1
|
NM_017777.3(MKS1): c.823_825GAG[5] (p.Glu278dup)
|
short repeat |
Uncertain significance |
rs780100856
|
17:56290366-56290366 |
17:58213006-58213008 |
35 |
MKS1
|
NM_017777.3(MKS1): c.1614del (p.Met539fs)
|
deletion |
Uncertain significance |
rs1555596555
|
17:56283505-56283506 |
17:58206145-58206145 |
36 |
MKS1
|
NM_017777.3(MKS1): c.1531_1534del (p.Ser511fs)
|
deletion |
Uncertain significance |
rs1555596710
|
17:56283697-56283701 |
17:58206337-58206340 |
37 |
MKS1
|
NM_017777.3(MKS1): c.857A> G (p.Asp286Gly)
|
single nucleotide variant |
Uncertain significance |
rs151023718
|
17:56290344-56290344 |
17:58212983-58212983 |
38 |
MKS1
|
NM_017777.3(MKS1): c.1288_1314del (p.Thr430_Glu438del)
|
deletion |
Uncertain significance |
rs1555597302
|
17:56284538-56284565 |
17:58207178-58207204 |
39 |
MKS1
|
NM_017777.3(MKS1): c.1621G> T (p.Glu541Ter)
|
single nucleotide variant |
Uncertain significance |
rs1555596538
|
17:56283499-56283499 |
17:58206138-58206138 |
40 |
MKS1
|
NM_017777.3(MKS1): c.1497del (p.Phe499fs)
|
deletion |
Uncertain significance |
rs780161503
|
17:56283734-56283735 |
17:58206374-58206374 |
41 |
MKS1
|
NM_017777.3(MKS1): c.1600C> T (p.Arg534Ter)
|
single nucleotide variant |
Uncertain significance |
rs772719574
|
17:56283520-56283520 |
17:58206159-58206159 |
42 |
MKS1
|
NM_017777.3(MKS1): c.1331_1345del (p.Glu444_Phe449delinsVal)
|
deletion |
Uncertain significance |
rs1555597266
|
17:56284507-56284522 |
17:58207147-58207161 |
43 |
MKS1
|
NM_017777.3(MKS1): c.1268C> T (p.Thr423Ile)
|
single nucleotide variant |
Uncertain significance |
rs760184188
|
17:56285260-56285260 |
17:58207899-58207899 |
44 |
MKS1
|
NM_017777.3(MKS1): c.1076_1078CCA[1] (p.Thr360del)
|
short repeat |
Uncertain significance |
rs1555598065
|
17:56285887-56285890 |
17:58208527-58208529 |
45 |
MKS1
|
NM_017777.3(MKS1): c.1175C> T (p.Pro392Leu)
|
single nucleotide variant |
Uncertain significance |
rs763534380
|
17:56285353-56285353 |
17:58207992-58207992 |
46 |
MKS1
|
NM_017777.3(MKS1): c.1609C> T (p.Arg537Cys)
|
single nucleotide variant |
Uncertain significance |
rs35464956
|
17:56283511-56283511 |
17:58206150-58206150 |
47 |
MKS1
|
NM_017777.3(MKS1): c.118C> T (p.His40Tyr)
|
single nucleotide variant |
Uncertain significance |
rs199832333
|
17:56296053-56296053 |
17:58218692-58218692 |
48 |
MKS1
|
NM_017777.3(MKS1): c.110A> G (p.Asn37Ser)
|
single nucleotide variant |
Uncertain significance |
rs587779734
|
17:56296061-56296061 |
17:58218700-58218700 |
49 |
MKS1
|
NM_017777.3(MKS1): c.214G> A (p.Glu72Lys)
|
single nucleotide variant |
Uncertain significance |
rs753620277
|
17:56294074-56294074 |
17:58216713-58216713 |
50 |
MKS1
|
NM_017777.3(MKS1): c.1543C> T (p.Arg515Cys)
|
single nucleotide variant |
Uncertain significance |
rs775558298
|
17:56283689-56283689 |
17:58206328-58206328 |