1 |
MKS1
|
NM_017777.3(MKS1): c.80+2T> C
|
single nucleotide variant |
Likely pathogenic |
rs386834052
|
GRCh37 |
Chromosome 17, 56296510: 56296510 |
2 |
MKS1
|
NM_017777.3(MKS1): c.80+2T> C
|
single nucleotide variant |
Likely pathogenic |
rs386834052
|
GRCh38 |
Chromosome 17, 58219149: 58219149 |
3 |
MKS1
|
NM_017777.3(MKS1): c.1024+1G> A
|
single nucleotide variant |
Likely pathogenic |
rs199874059
|
GRCh37 |
Chromosome 17, 56288019: 56288019 |
4 |
MKS1
|
NM_017777.3(MKS1): c.1024+1G> A
|
single nucleotide variant |
Likely pathogenic |
rs199874059
|
GRCh38 |
Chromosome 17, 58210658: 58210658 |
5 |
MKS1
|
NM_017777.3(MKS1): c.417G> A (p.Glu139=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs386834048
|
GRCh37 |
Chromosome 17, 56293449: 56293449 |
6 |
MKS1
|
NM_017777.3(MKS1): c.417G> A (p.Glu139=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs386834048
|
GRCh38 |
Chromosome 17, 58216088: 58216088 |
7 |
MKS1
|
NM_017777.3(MKS1): c.1476T> G (p.Cys492Trp)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs137853105
|
GRCh37 |
Chromosome 17, 56283840: 56283840 |
8 |
MKS1
|
NM_017777.3(MKS1): c.1476T> G (p.Cys492Trp)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs137853105
|
GRCh38 |
Chromosome 17, 58206479: 58206479 |
9 |
MKS1
|
NM_017777.3(MKS1): c.184_190delACTGCCA (p.Thr62Valfs)
|
deletion |
Likely pathogenic |
rs386834046
|
GRCh37 |
Chromosome 17, 56295981: 56295987 |
10 |
MKS1
|
NM_017777.3(MKS1): c.184_190delACTGCCA (p.Thr62Valfs)
|
deletion |
Likely pathogenic |
rs386834046
|
GRCh38 |
Chromosome 17, 58218620: 58218626 |
11 |
MKS1
|
NM_017777.3(MKS1): c.515+1G> A
|
single nucleotide variant |
Pathogenic/Likely pathogenic |
rs201933838
|
GRCh37 |
Chromosome 17, 56292101: 56292101 |
12 |
MKS1
|
NM_017777.3(MKS1): c.515+1G> A
|
single nucleotide variant |
Pathogenic/Likely pathogenic |
rs201933838
|
GRCh38 |
Chromosome 17, 58214740: 58214740 |
13 |
MKS1
|
NM_017777.3(MKS1): c.51_55dupCCGGG (p.Asp19Alafs)
|
duplication |
Likely pathogenic |
rs386834051
|
GRCh37 |
Chromosome 17, 56296537: 56296541 |
14 |
MKS1
|
NM_017777.3(MKS1): c.51_55dupCCGGG (p.Asp19Alafs)
|
duplication |
Likely pathogenic |
rs386834051
|
GRCh38 |
Chromosome 17, 58219176: 58219180 |
15 |
MKS1
|
NM_017777.3(MKS1): c.110A> G (p.Asn37Ser)
|
single nucleotide variant |
Uncertain significance |
rs587779734
|
GRCh37 |
Chromosome 17, 56296061: 56296061 |
16 |
MKS1
|
NM_017777.3(MKS1): c.110A> G (p.Asn37Ser)
|
single nucleotide variant |
Uncertain significance |
rs587779734
|
GRCh38 |
Chromosome 17, 58218700: 58218700 |
17 |
MKS1
|
NM_017777.3(MKS1): c.1382A> G (p.Tyr461Cys)
|
single nucleotide variant |
Uncertain significance |
rs730882120
|
GRCh38 |
Chromosome 17, 58207110: 58207110 |
18 |
MKS1
|
NM_017777.3(MKS1): c.1382A> G (p.Tyr461Cys)
|
single nucleotide variant |
Uncertain significance |
rs730882120
|
GRCh37 |
Chromosome 17, 56284471: 56284471 |
19 |
MKS1
|
NM_017777.3(MKS1): c.1408-34_1408-6del29
|
deletion |
Conflicting interpretations of pathogenicity |
rs386834043
|
GRCh37 |
Chromosome 17, 56283914: 56283942 |
20 |
MKS1
|
NM_017777.3(MKS1): c.1408-34_1408-6del29
|
deletion |
Conflicting interpretations of pathogenicity |
rs386834043
|
GRCh38 |
Chromosome 17, 58206553: 58206581 |
21 |
MKS1
|
NM_017777.3(MKS1): c.233T> G (p.Ile78Ser)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs786204222
|
GRCh37 |
Chromosome 17, 56294055: 56294055 |
22 |
MKS1
|
NM_017777.3(MKS1): c.233T> G (p.Ile78Ser)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs786204222
|
GRCh38 |
Chromosome 17, 58216694: 58216694 |
23 |
MKS1
|
NM_017777.3(MKS1): c.1025-2A> C
|
single nucleotide variant |
Pathogenic/Likely pathogenic |
rs794727070
|
GRCh37 |
Chromosome 17, 56285946: 56285946 |
24 |
MKS1
|
NM_017777.3(MKS1): c.1025-2A> C
|
single nucleotide variant |
Pathogenic/Likely pathogenic |
rs794727070
|
GRCh38 |
Chromosome 17, 58208585: 58208585 |
25 |
MKS1
|
NM_017777.3(MKS1): c.844C> T (p.Arg282Ter)
|
single nucleotide variant |
Pathogenic/Likely pathogenic |
rs797045706
|
GRCh37 |
Chromosome 17, 56290357: 56290357 |
26 |
MKS1
|
NM_017777.3(MKS1): c.844C> T (p.Arg282Ter)
|
single nucleotide variant |
Pathogenic/Likely pathogenic |
rs797045706
|
GRCh38 |
Chromosome 17, 58212996: 58212996 |
27 |
MKS1
|
NM_017777.3(MKS1): c.1115_1117delCCT (p.Ser372del)
|
deletion |
Pathogenic/Likely pathogenic |
rs754279998
|
GRCh37 |
Chromosome 17, 56285514: 56285516 |
28 |
MKS1
|
NM_017777.3(MKS1): c.1115_1117delCCT (p.Ser372del)
|
deletion |
Pathogenic/Likely pathogenic |
rs754279998
|
GRCh38 |
Chromosome 17, 58208153: 58208155 |
29 |
MKS1
|
NM_017777.3(MKS1): c.493C> T (p.Arg165Cys)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs779953982
|
GRCh37 |
Chromosome 17, 56292124: 56292124 |
30 |
MKS1
|
NM_017777.3(MKS1): c.493C> T (p.Arg165Cys)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs779953982
|
GRCh38 |
Chromosome 17, 58214763: 58214763 |
31 |
MKS1
|
NM_017777.3(MKS1): c.1609C> T (p.Arg537Cys)
|
single nucleotide variant |
Uncertain significance |
rs35464956
|
GRCh37 |
Chromosome 17, 56283511: 56283511 |
32 |
MKS1
|
NM_017777.3(MKS1): c.1609C> T (p.Arg537Cys)
|
single nucleotide variant |
Uncertain significance |
rs35464956
|
GRCh38 |
Chromosome 17, 58206150: 58206150 |
33 |
MKS1
|
NM_017777.3(MKS1): c.1175C> T (p.Pro392Leu)
|
single nucleotide variant |
Uncertain significance |
rs763534380
|
GRCh38 |
Chromosome 17, 58207992: 58207992 |
34 |
MKS1
|
NM_017777.3(MKS1): c.1175C> T (p.Pro392Leu)
|
single nucleotide variant |
Uncertain significance |
rs763534380
|
GRCh37 |
Chromosome 17, 56285353: 56285353 |
35 |
MKS1
|
NM_017777.3(MKS1): c.508C> T (p.Arg170Ter)
|
single nucleotide variant |
Likely pathogenic |
rs756853299
|
GRCh37 |
Chromosome 17, 56292109: 56292109 |
36 |
MKS1
|
NM_017777.3(MKS1): c.508C> T (p.Arg170Ter)
|
single nucleotide variant |
Likely pathogenic |
rs756853299
|
GRCh38 |
Chromosome 17, 58214748: 58214748 |
37 |
MKS1
|
NM_001165927.1(MKS1): c.1461-2A> G
|
single nucleotide variant |
Pathogenic |
rs886038203
|
GRCh38 |
Chromosome 17, 58206382: 58206382 |
38 |
MKS1
|
NM_001165927.1(MKS1): c.1461-2A> G
|
single nucleotide variant |
Pathogenic |
rs886038203
|
GRCh37 |
Chromosome 17, 56283743: 56283743 |
39 |
MKS1
|
NM_017777.3(MKS1): c.1588+1G> T
|
single nucleotide variant |
Pathogenic |
rs886038204
|
GRCh38 |
Chromosome 17, 58206282: 58206282 |
40 |
MKS1
|
NM_017777.3(MKS1): c.1588+1G> T
|
single nucleotide variant |
Pathogenic |
rs886038204
|
GRCh37 |
Chromosome 17, 56283643: 56283643 |
41 |
MKS1
|
NM_017777.3(MKS1): c.1600C> A (p.Arg534=)
|
single nucleotide variant |
Likely benign |
rs772719574
|
GRCh37 |
Chromosome 17, 56283520: 56283520 |
42 |
MKS1
|
NM_017777.3(MKS1): c.1600C> A (p.Arg534=)
|
single nucleotide variant |
Likely benign |
rs772719574
|
GRCh38 |
Chromosome 17, 58206159: 58206159 |
43 |
MKS1
|
NM_017777.3(MKS1): c.1588+12C> G
|
single nucleotide variant |
Likely benign |
rs762501967
|
GRCh37 |
Chromosome 17, 56283632: 56283632 |
44 |
MKS1
|
NM_017777.3(MKS1): c.1588+12C> G
|
single nucleotide variant |
Likely benign |
rs762501967
|
GRCh38 |
Chromosome 17, 58206271: 58206271 |
45 |
MKS1
|
NM_017777.3(MKS1): c.1063A> G (p.Thr355Ala)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs745809472
|
GRCh37 |
Chromosome 17, 56285906: 56285906 |
46 |
MKS1
|
NM_017777.3(MKS1): c.1063A> G (p.Thr355Ala)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs745809472
|
GRCh38 |
Chromosome 17, 58208545: 58208545 |
47 |
MKS1
|
NM_017777.3(MKS1): c.771G> A (p.Lys257=)
|
single nucleotide variant |
Likely benign |
rs886038632
|
GRCh37 |
Chromosome 17, 56290430: 56290430 |
48 |
MKS1
|
NM_017777.3(MKS1): c.771G> A (p.Lys257=)
|
single nucleotide variant |
Likely benign |
rs886038632
|
GRCh38 |
Chromosome 17, 58213069: 58213069 |
49 |
MKS1
|
NM_017777.3(MKS1): c.80+14C> G
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs761061379
|
GRCh38 |
Chromosome 17, 58219137: 58219137 |
50 |
MKS1
|
NM_017777.3(MKS1): c.80+14C> G
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs761061379
|
GRCh37 |
Chromosome 17, 56296498: 56296498 |