1 |
RBBP8
|
NM_002894.2(RBBP8): c.1009A> G (p.Lys337Glu)
|
single nucleotide variant |
Uncertain significance |
rs121434388
|
GRCh37 |
Chromosome 18, 20572799: 20572799 |
2 |
RBBP8
|
NM_002894.2(RBBP8): c.1009A> G (p.Lys337Glu)
|
single nucleotide variant |
Uncertain significance |
rs121434388
|
GRCh38 |
Chromosome 18, 22992836: 22992836 |
3 |
CENPJ
|
NM_018451.4(CENPJ): c.163C> G (p.Pro55Ala)
|
single nucleotide variant |
Benign/Likely benign |
rs17081389
|
GRCh37 |
Chromosome 13, 25487001: 25487001 |
4 |
CENPJ
|
NM_018451.4(CENPJ): c.163C> G (p.Pro55Ala)
|
single nucleotide variant |
Benign/Likely benign |
rs17081389
|
GRCh38 |
Chromosome 13, 24912863: 24912863 |
5 |
CENPJ
|
NM_018451.4(CENPJ): c.187G> C (p.Asp63His)
|
single nucleotide variant |
Benign/Likely benign |
rs7336216
|
GRCh37 |
Chromosome 13, 25486977: 25486977 |
6 |
CENPJ
|
NM_018451.4(CENPJ): c.187G> C (p.Asp63His)
|
single nucleotide variant |
Benign/Likely benign |
rs7336216
|
GRCh38 |
Chromosome 13, 24912839: 24912839 |
7 |
CENPJ
|
NM_018451.4(CENPJ): c.2635T> G (p.Ser879Ala)
|
single nucleotide variant |
Benign/Likely benign |
rs17402892
|
GRCh37 |
Chromosome 13, 25479541: 25479541 |
8 |
CENPJ
|
NM_018451.4(CENPJ): c.2635T> G (p.Ser879Ala)
|
single nucleotide variant |
Benign/Likely benign |
rs17402892
|
GRCh38 |
Chromosome 13, 24905403: 24905403 |
9 |
CENPJ
|
NM_018451.4(CENPJ): c.61A> G (p.Met21Val)
|
single nucleotide variant |
Benign |
rs35498994
|
GRCh37 |
Chromosome 13, 25487103: 25487103 |
10 |
CENPJ
|
NM_018451.4(CENPJ): c.61A> G (p.Met21Val)
|
single nucleotide variant |
Benign |
rs35498994
|
GRCh38 |
Chromosome 13, 24912965: 24912965 |
11 |
ATR
|
NM_001184.3(ATR): c.632T> C (p.Met211Thr)
|
single nucleotide variant |
Benign/Likely benign |
rs2227928
|
GRCh37 |
Chromosome 3, 142281612: 142281612 |
12 |
ATR
|
NM_001184.3(ATR): c.632T> C (p.Met211Thr)
|
single nucleotide variant |
Benign/Likely benign |
rs2227928
|
GRCh38 |
Chromosome 3, 142562770: 142562770 |
13 |
ATR
|
NM_001184.3(ATR): c.7875G> A (p.Gln2625=)
|
single nucleotide variant |
Benign/Likely benign |
rs1802904
|
GRCh37 |
Chromosome 3, 142168331: 142168331 |
14 |
ATR
|
NM_001184.3(ATR): c.7875G> A (p.Gln2625=)
|
single nucleotide variant |
Benign/Likely benign |
rs1802904
|
GRCh38 |
Chromosome 3, 142449489: 142449489 |
15 |
CEP152
|
NM_014985.3(CEP152): c.3466+8G> C
|
single nucleotide variant |
Benign |
rs2306187
|
GRCh37 |
Chromosome 15, 49044538: 49044538 |
16 |
CEP152
|
NM_014985.3(CEP152): c.3466+8G> C
|
single nucleotide variant |
Benign |
rs2306187
|
GRCh38 |
Chromosome 15, 48752341: 48752341 |
17 |
CEP152
|
NM_014985.3(CEP152): c.3926-9A> T
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs80090788
|
GRCh37 |
Chromosome 15, 49031494: 49031494 |
18 |
CEP152
|
NM_014985.3(CEP152): c.3926-9A> T
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs80090788
|
GRCh38 |
Chromosome 15, 48739297: 48739297 |
19 |
CENPJ
|
NM_018451.4(CENPJ): c.1881G> A (p.Pro627=)
|
single nucleotide variant |
Benign/Likely benign |
rs75985315
|
GRCh37 |
Chromosome 13, 25480295: 25480295 |
20 |
CENPJ
|
NM_018451.4(CENPJ): c.1881G> A (p.Pro627=)
|
single nucleotide variant |
Benign/Likely benign |
rs75985315
|
GRCh38 |
Chromosome 13, 24906157: 24906157 |
21 |
RBBP8
|
NM_002894.2(RBBP8): c.1071A> C (p.Lys357Asn)
|
single nucleotide variant |
Likely benign |
rs34678569
|
GRCh37 |
Chromosome 18, 20572861: 20572861 |
22 |
RBBP8
|
NM_002894.2(RBBP8): c.1071A> C (p.Lys357Asn)
|
single nucleotide variant |
Likely benign |
rs34678569
|
GRCh38 |
Chromosome 18, 22992898: 22992898 |
23 |
RBBP8
|
NM_002894.2(RBBP8): c.1367A> G (p.His456Arg)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs139743319
|
GRCh37 |
Chromosome 18, 20573157: 20573157 |
24 |
RBBP8
|
NM_002894.2(RBBP8): c.1367A> G (p.His456Arg)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs139743319
|
GRCh38 |
Chromosome 18, 22993194: 22993194 |
25 |
RBBP8
|
NM_002894.2(RBBP8): c.1644T> C (p.Asp548=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs34780140
|
GRCh37 |
Chromosome 18, 20573434: 20573434 |
26 |
RBBP8
|
NM_002894.2(RBBP8): c.1644T> C (p.Asp548=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs34780140
|
GRCh38 |
Chromosome 18, 22993471: 22993471 |
27 |
RBBP8
|
NM_002894.2(RBBP8): c.2115G> A (p.Lys705=)
|
single nucleotide variant |
Benign |
rs17852769
|
GRCh37 |
Chromosome 18, 20577669: 20577669 |
28 |
RBBP8
|
NM_002894.2(RBBP8): c.2115G> A (p.Lys705=)
|
single nucleotide variant |
Benign |
rs17852769
|
GRCh38 |
Chromosome 18, 22997706: 22997706 |
29 |
ATR
|
NM_001184.3(ATR): c.7274G> A (p.Arg2425Gln)
|
single nucleotide variant |
Benign/Likely benign |
rs2229032
|
GRCh37 |
Chromosome 3, 142178144: 142178144 |
30 |
ATR
|
NM_001184.3(ATR): c.7274G> A (p.Arg2425Gln)
|
single nucleotide variant |
Benign/Likely benign |
rs2229032
|
GRCh38 |
Chromosome 3, 142459302: 142459302 |
31 |
ATR
|
NM_001184.3(ATR): c.5460T> C (p.Tyr1820=)
|
single nucleotide variant |
Benign/Likely benign |
rs2227932
|
GRCh37 |
Chromosome 3, 142217537: 142217537 |
32 |
ATR
|
NM_001184.3(ATR): c.5460T> C (p.Tyr1820=)
|
single nucleotide variant |
Benign/Likely benign |
rs2227932
|
GRCh38 |
Chromosome 3, 142498695: 142498695 |
33 |
CENPJ
|
NM_018451.4(CENPJ): c.1560A> T (p.Thr520=)
|
single nucleotide variant |
Benign/Likely benign |
rs17081368
|
GRCh37 |
Chromosome 13, 25480616: 25480616 |
34 |
CENPJ
|
NM_018451.4(CENPJ): c.1560A> T (p.Thr520=)
|
single nucleotide variant |
Benign/Likely benign |
rs17081368
|
GRCh38 |
Chromosome 13, 24906478: 24906478 |
35 |
CEP152
|
NM_014985.3(CEP152): c.161C> T (p.Ser54Leu)
|
single nucleotide variant |
Benign/Likely benign |
rs2289181
|
GRCh38 |
Chromosome 15, 48797978: 48797978 |
36 |
CEP152
|
NM_014985.3(CEP152): c.161C> T (p.Ser54Leu)
|
single nucleotide variant |
Benign/Likely benign |
rs2289181
|
GRCh37 |
Chromosome 15, 49090175: 49090175 |
37 |
CEP152
|
NM_014985.3(CEP152): c.691+9C> T
|
single nucleotide variant |
Benign/Likely benign |
rs77732888
|
GRCh38 |
Chromosome 15, 48796001: 48796001 |
38 |
CEP152
|
NM_014985.3(CEP152): c.691+9C> T
|
single nucleotide variant |
Benign/Likely benign |
rs77732888
|
GRCh37 |
Chromosome 15, 49088198: 49088198 |
39 |
CEP152
|
NM_014985.3(CEP152): c.2019-13G> A
|
single nucleotide variant |
Benign/Likely benign |
rs9302144
|
GRCh38 |
Chromosome 15, 48767476: 48767476 |
40 |
CEP152
|
NM_014985.3(CEP152): c.2019-13G> A
|
single nucleotide variant |
Benign/Likely benign |
rs9302144
|
GRCh37 |
Chromosome 15, 49059673: 49059673 |
41 |
CEP152
|
NM_014985.3(CEP152): c.2378G> T (p.Ser793Ile)
|
single nucleotide variant |
Benign/Likely benign |
rs2289178
|
GRCh38 |
Chromosome 15, 48762575: 48762575 |
42 |
CEP152
|
NM_014985.3(CEP152): c.2378G> T (p.Ser793Ile)
|
single nucleotide variant |
Benign/Likely benign |
rs2289178
|
GRCh37 |
Chromosome 15, 49054772: 49054772 |
43 |
CEP152
|
NM_014985.3(CEP152): c.2740C> G (p.Leu914Val)
|
single nucleotide variant |
Benign/Likely benign |
rs16961560
|
GRCh38 |
Chromosome 15, 48756508: 48756508 |
44 |
CEP152
|
NM_014985.3(CEP152): c.2740C> G (p.Leu914Val)
|
single nucleotide variant |
Benign/Likely benign |
rs16961560
|
GRCh37 |
Chromosome 15, 49048705: 49048705 |
45 |
ATR
|
NM_001184.3(ATR): c.1326A> G (p.Lys442=)
|
single nucleotide variant |
Benign/Likely benign |
rs28897765
|
GRCh37 |
Chromosome 3, 142280108: 142280108 |
46 |
ATR
|
NM_001184.3(ATR): c.1326A> G (p.Lys442=)
|
single nucleotide variant |
Benign/Likely benign |
rs28897765
|
GRCh38 |
Chromosome 3, 142561266: 142561266 |
47 |
ATR
|
NM_001184.3(ATR): c.1776T> A (p.Gly592=)
|
single nucleotide variant |
Benign/Likely benign |
rs2227930
|
GRCh37 |
Chromosome 3, 142277575: 142277575 |
48 |
ATR
|
NM_001184.3(ATR): c.1776T> A (p.Gly592=)
|
single nucleotide variant |
Benign/Likely benign |
rs2227930
|
GRCh38 |
Chromosome 3, 142558733: 142558733 |
49 |
ATR
|
NM_001184.3(ATR): c.1815T> C (p.Asp605=)
|
single nucleotide variant |
Benign |
rs2227929
|
GRCh37 |
Chromosome 3, 142277536: 142277536 |
50 |
ATR
|
NM_001184.3(ATR): c.1815T> C (p.Asp605=)
|
single nucleotide variant |
Benign |
rs2227929
|
GRCh38 |
Chromosome 3, 142558694: 142558694 |