1 |
WNT5A
|
NM_003392.4(WNT5A): c.544T> C (p.Cys182Arg)
|
single nucleotide variant |
Pathogenic |
rs387906663
|
GRCh37 |
Chromosome 3, 55508505: 55508505 |
2 |
WNT5A
|
NM_003392.4(WNT5A): c.544T> C (p.Cys182Arg)
|
single nucleotide variant |
Pathogenic |
rs387906663
|
GRCh38 |
Chromosome 3, 55474477: 55474477 |
3 |
WNT5A
|
NM_003392.4(WNT5A): c.248G> C (p.Cys83Ser)
|
single nucleotide variant |
Pathogenic |
rs786200925
|
GRCh38 |
Chromosome 3, 55479457: 55479457 |
4 |
WNT5A
|
NM_003392.4(WNT5A): c.248G> C (p.Cys83Ser)
|
single nucleotide variant |
Pathogenic |
rs786200925
|
GRCh37 |
Chromosome 3, 55513485: 55513485 |
5 |
WNT5A
|
NM_003392.4(WNT5A): c.487G> C (p.Gly163Arg)
|
single nucleotide variant |
Likely pathogenic |
rs587784562
|
GRCh37 |
Chromosome 3, 55508562: 55508562 |
6 |
WNT5A
|
NM_003392.4(WNT5A): c.487G> C (p.Gly163Arg)
|
single nucleotide variant |
Likely pathogenic |
rs587784562
|
GRCh38 |
Chromosome 3, 55474534: 55474534 |
7 |
WNT5A
|
NM_003392.4(WNT5A): c.405G> T (p.Thr135=)
|
single nucleotide variant |
Benign |
rs147104982
|
GRCh37 |
Chromosome 3, 55508644: 55508644 |
8 |
WNT5A
|
NM_003392.4(WNT5A): c.405G> T (p.Thr135=)
|
single nucleotide variant |
Benign |
rs147104982
|
GRCh38 |
Chromosome 3, 55474616: 55474616 |
9 |
WNT5A
|
NM_003392.4(WNT5A): c.391+11A> G
|
single nucleotide variant |
Uncertain significance |
rs6790979
|
GRCh37 |
Chromosome 3, 55513331: 55513331 |
10 |
WNT5A
|
NM_003392.4(WNT5A): c.391+11A> G
|
single nucleotide variant |
Uncertain significance |
rs6790979
|
GRCh38 |
Chromosome 3, 55479303: 55479303 |
11 |
WNT5A
|
NM_003392.4(WNT5A): c.141-8C> G
|
single nucleotide variant |
Uncertain significance |
rs188798140
|
GRCh37 |
Chromosome 3, 55513600: 55513600 |
12 |
WNT5A
|
NM_003392.4(WNT5A): c.141-8C> G
|
single nucleotide variant |
Uncertain significance |
rs188798140
|
GRCh38 |
Chromosome 3, 55479572: 55479572 |
13 |
WNT5A
|
NM_003392.4(WNT5A): c.141-9C> T
|
single nucleotide variant |
Uncertain significance |
rs181894008
|
GRCh37 |
Chromosome 3, 55513601: 55513601 |
14 |
WNT5A
|
NM_003392.4(WNT5A): c.141-9C> T
|
single nucleotide variant |
Uncertain significance |
rs181894008
|
GRCh38 |
Chromosome 3, 55479573: 55479573 |
15 |
WNT5A
|
NM_003392.4(WNT5A): c.141-9C> G
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs181894008
|
GRCh37 |
Chromosome 3, 55513601: 55513601 |
16 |
WNT5A
|
NM_003392.4(WNT5A): c.141-9C> G
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs181894008
|
GRCh38 |
Chromosome 3, 55479573: 55479573 |
17 |
WNT5A
|
NM_003392.4(WNT5A): c.140+14A> G
|
single nucleotide variant |
Uncertain significance |
rs139616809
|
GRCh37 |
Chromosome 3, 55514799: 55514799 |
18 |
WNT5A
|
NM_003392.4(WNT5A): c.140+14A> G
|
single nucleotide variant |
Uncertain significance |
rs139616809
|
GRCh38 |
Chromosome 3, 55480771: 55480771 |
19 |
ROR2
|
NM_004560.3(ROR2): c.2805C> G (p.Asp935Glu)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs41277835
|
GRCh37 |
Chromosome 9, 94485971: 94485971 |
20 |
ROR2
|
NM_004560.3(ROR2): c.2805C> G (p.Asp935Glu)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs41277835
|
GRCh38 |
Chromosome 9, 91723689: 91723689 |
21 |
ROR2
|
NM_004560.3(ROR2): c.2455G> A (p.Val819Ile)
|
single nucleotide variant |
Benign |
rs10761129
|
GRCh37 |
Chromosome 9, 94486321: 94486321 |
22 |
ROR2
|
NM_004560.3(ROR2): c.2455G> A (p.Val819Ile)
|
single nucleotide variant |
Benign |
rs10761129
|
GRCh38 |
Chromosome 9, 91724039: 91724039 |
23 |
ROR2
|
NM_004560.3(ROR2): c.2285C> T (p.Ser762Leu)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs34491822
|
GRCh37 |
Chromosome 9, 94486491: 94486491 |
24 |
ROR2
|
NM_004560.3(ROR2): c.2285C> T (p.Ser762Leu)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs34491822
|
GRCh38 |
Chromosome 9, 91724209: 91724209 |
25 |
ROR2
|
NM_004560.3(ROR2): c.2154C> T (p.Pro718=)
|
single nucleotide variant |
Benign |
rs2230577
|
GRCh37 |
Chromosome 9, 94486622: 94486622 |
26 |
ROR2
|
NM_004560.3(ROR2): c.2154C> T (p.Pro718=)
|
single nucleotide variant |
Benign |
rs2230577
|
GRCh38 |
Chromosome 9, 91724340: 91724340 |
27 |
ROR2
|
NM_004560.3(ROR2): c.2088C> T (p.Tyr696=)
|
single nucleotide variant |
Benign |
rs10992063
|
GRCh37 |
Chromosome 9, 94486688: 94486688 |
28 |
ROR2
|
NM_004560.3(ROR2): c.2088C> T (p.Tyr696=)
|
single nucleotide variant |
Benign |
rs10992063
|
GRCh38 |
Chromosome 9, 91724406: 91724406 |
29 |
ROR2
|
NM_004560.3(ROR2): c.2083G> A (p.Gly695Arg)
|
single nucleotide variant |
Benign |
rs34431454
|
GRCh37 |
Chromosome 9, 94486693: 94486693 |
30 |
ROR2
|
NM_004560.3(ROR2): c.2083G> A (p.Gly695Arg)
|
single nucleotide variant |
Benign |
rs34431454
|
GRCh38 |
Chromosome 9, 91724411: 91724411 |
31 |
ROR2
|
NM_004560.3(ROR2): c.1959G> A (p.Leu653=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs144549032
|
GRCh37 |
Chromosome 9, 94486817: 94486817 |
32 |
ROR2
|
NM_004560.3(ROR2): c.1959G> A (p.Leu653=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs144549032
|
GRCh38 |
Chromosome 9, 91724535: 91724535 |
33 |
ROR2
|
NM_004560.3(ROR2): c.1710G> A (p.Pro570=)
|
single nucleotide variant |
Benign/Likely benign |
rs41277837
|
GRCh37 |
Chromosome 9, 94487066: 94487066 |
34 |
ROR2
|
NM_004560.3(ROR2): c.1710G> A (p.Pro570=)
|
single nucleotide variant |
Benign/Likely benign |
rs41277837
|
GRCh38 |
Chromosome 9, 91724784: 91724784 |
35 |
ROR2
|
NM_004560.3(ROR2): c.1045C> G (p.His349Asp)
|
single nucleotide variant |
Benign |
rs55983376
|
GRCh37 |
Chromosome 9, 94493330: 94493330 |
36 |
ROR2
|
NM_004560.3(ROR2): c.1045C> G (p.His349Asp)
|
single nucleotide variant |
Benign |
rs55983376
|
GRCh38 |
Chromosome 9, 91731048: 91731048 |
37 |
ROR2
|
NM_004560.3(ROR2): c.986G> A (p.Ser329Asn)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs371221714
|
GRCh37 |
Chromosome 9, 94493389: 94493389 |
38 |
ROR2
|
NM_004560.3(ROR2): c.986G> A (p.Ser329Asn)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs371221714
|
GRCh38 |
Chromosome 9, 91731107: 91731107 |
39 |
ROR2
|
NM_004560.3(ROR2): c.733A> G (p.Thr245Ala)
|
single nucleotide variant |
Benign |
rs10820900
|
GRCh37 |
Chromosome 9, 94495608: 94495608 |
40 |
ROR2
|
NM_004560.3(ROR2): c.733A> G (p.Thr245Ala)
|
single nucleotide variant |
Benign |
rs10820900
|
GRCh38 |
Chromosome 9, 91733326: 91733326 |
41 |
ROR2
|
NM_004560.3(ROR2): c.498T> C (p.Asp166=)
|
single nucleotide variant |
Benign |
rs16907720
|
GRCh37 |
Chromosome 9, 94499797: 94499797 |
42 |
ROR2
|
NM_004560.3(ROR2): c.498T> C (p.Asp166=)
|
single nucleotide variant |
Benign |
rs16907720
|
GRCh38 |
Chromosome 9, 91737515: 91737515 |
43 |
ROR2
|
NM_004560.3(ROR2): c.98-15G> C
|
single nucleotide variant |
Benign |
rs7863557
|
GRCh37 |
Chromosome 9, 94538115: 94538115 |
44 |
ROR2
|
NM_004560.3(ROR2): c.98-15G> C
|
single nucleotide variant |
Benign |
rs7863557
|
GRCh38 |
Chromosome 9, 91775833: 91775833 |
45 |
ROR2
|
NM_004560.3(ROR2): c.75G> A (p.Leu25=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs148237260
|
GRCh37 |
Chromosome 9, 94712171: 94712171 |
46 |
ROR2
|
NM_004560.3(ROR2): c.75G> A (p.Leu25=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs148237260
|
GRCh38 |
Chromosome 9, 91949889: 91949889 |
47 |
WNT5A
|
NM_003392.4(WNT5A): c.545G> C (p.Cys182Ser)
|
single nucleotide variant |
Pathogenic |
rs869312850
|
GRCh38 |
Chromosome 3, 55474476: 55474476 |
48 |
WNT5A
|
NM_003392.4(WNT5A): c.545G> C (p.Cys182Ser)
|
single nucleotide variant |
Pathogenic |
rs869312850
|
GRCh37 |
Chromosome 3, 55508504: 55508504 |
49 |
WNT5A
|
NM_003392.4(WNT5A): c.257A> G (p.Tyr86Cys)
|
single nucleotide variant |
Pathogenic |
rs786204836
|
GRCh38 |
Chromosome 3, 55479448: 55479448 |
50 |
WNT5A
|
NM_003392.4(WNT5A): c.257A> G (p.Tyr86Cys)
|
single nucleotide variant |
Pathogenic |
rs786204836
|
GRCh37 |
Chromosome 3, 55513476: 55513476 |