1 |
NR5A1
|
NM_004959.4(NR5A1): c.104_105delGCinsAA (p.Gly35Glu)
|
indel |
Pathogenic |
rs121918654
|
GRCh37 |
Chromosome 9, 127265497: 127265498 |
2 |
NR5A1
|
NM_004959.4(NR5A1): c.104_105delGCinsAA (p.Gly35Glu)
|
indel |
Pathogenic |
rs121918654
|
GRCh38 |
Chromosome 9, 124503218: 124503219 |
3 |
NR5A1
|
NM_004959.4(NR5A1): c.275G> A (p.Arg92Gln)
|
single nucleotide variant |
Pathogenic |
rs104894119
|
GRCh37 |
Chromosome 9, 127262964: 127262964 |
4 |
NR5A1
|
NM_004959.4(NR5A1): c.275G> A (p.Arg92Gln)
|
single nucleotide variant |
Pathogenic |
rs104894119
|
GRCh38 |
Chromosome 9, 124500685: 124500685 |
5 |
NR5A1
|
NR5A1, 8-BP DEL, NT1058
|
deletion |
Pathogenic |
|
|
|
6 |
NR5A1
|
NM_004959.4(NR5A1): c.48C> A (p.Cys16Ter)
|
single nucleotide variant |
Pathogenic |
rs104894123
|
GRCh37 |
Chromosome 9, 127265627: 127265627 |
7 |
NR5A1
|
NM_004959.4(NR5A1): c.48C> A (p.Cys16Ter)
|
single nucleotide variant |
Pathogenic |
rs104894123
|
GRCh38 |
Chromosome 9, 124503348: 124503348 |
8 |
NR5A1
|
NM_004959.4(NR5A1): c.18delC (p.Asp6Glufs)
|
deletion |
Pathogenic |
rs606231205
|
GRCh38 |
Chromosome 9, 124503378: 124503378 |
9 |
NR5A1
|
NM_004959.4(NR5A1): c.18delC (p.Asp6Glufs)
|
deletion |
Pathogenic |
rs606231205
|
GRCh37 |
Chromosome 9, 127265657: 127265657 |
10 |
NR5A1
|
NM_004959.4(NR5A1): c.43G> A (p.Val15Met)
|
single nucleotide variant |
Pathogenic |
rs104894124
|
GRCh37 |
Chromosome 9, 127265632: 127265632 |
11 |
NR5A1
|
NM_004959.4(NR5A1): c.43G> A (p.Val15Met)
|
single nucleotide variant |
Pathogenic |
rs104894124
|
GRCh38 |
Chromosome 9, 124503353: 124503353 |
12 |
NR5A1
|
NM_004959.4(NR5A1): c.234G> A (p.Met78Ile)
|
single nucleotide variant |
Pathogenic |
rs104894125
|
GRCh37 |
Chromosome 9, 127265368: 127265368 |
13 |
NR5A1
|
NM_004959.4(NR5A1): c.234G> A (p.Met78Ile)
|
single nucleotide variant |
Pathogenic |
rs104894125
|
GRCh38 |
Chromosome 9, 124503089: 124503089 |
14 |
NR5A1
|
NM_004959.4(NR5A1): c.271G> A (p.Gly91Ser)
|
single nucleotide variant |
Pathogenic |
rs104894126
|
GRCh37 |
Chromosome 9, 127262968: 127262968 |
15 |
NR5A1
|
NM_004959.4(NR5A1): c.271G> A (p.Gly91Ser)
|
single nucleotide variant |
Pathogenic |
rs104894126
|
GRCh38 |
Chromosome 9, 124500689: 124500689 |
16 |
NR5A1
|
NM_004959.4(NR5A1): c.1310T> A (p.Leu437Gln)
|
single nucleotide variant |
Pathogenic |
rs104894120
|
GRCh37 |
Chromosome 9, 127245113: 127245113 |
17 |
NR5A1
|
NM_004959.4(NR5A1): c.1310T> A (p.Leu437Gln)
|
single nucleotide variant |
Pathogenic |
rs104894120
|
GRCh38 |
Chromosome 9, 124482834: 124482834 |
18 |
NR5A1
|
NM_004959.4(NR5A1): c.666delC (p.Asn222Lysfs)
|
deletion |
Pathogenic |
rs606231206
|
GRCh38 |
Chromosome 9, 124500294: 124500294 |
19 |
NR5A1
|
NM_004959.4(NR5A1): c.666delC (p.Asn222Lysfs)
|
deletion |
Pathogenic |
rs606231206
|
GRCh37 |
Chromosome 9, 127262573: 127262573 |
20 |
NR5A1
|
NM_004959.4(NR5A1): c.877G> A (p.Asp293Asn)
|
single nucleotide variant |
Pathogenic |
rs121918655
|
GRCh37 |
Chromosome 9, 127255422: 127255422 |
21 |
NR5A1
|
NM_004959.4(NR5A1): c.877G> A (p.Asp293Asn)
|
single nucleotide variant |
Pathogenic |
rs121918655
|
GRCh38 |
Chromosome 9, 124493143: 124493143 |
22 |
NR5A1
|
NM_004959.4(NR5A1): c.3G> A (p.Met1Ile)
|
single nucleotide variant |
Pathogenic |
rs121918656
|
GRCh37 |
Chromosome 9, 127265672: 127265672 |
23 |
NR5A1
|
NM_004959.4(NR5A1): c.3G> A (p.Met1Ile)
|
single nucleotide variant |
Pathogenic |
rs121918656
|
GRCh38 |
Chromosome 9, 124503393: 124503393 |
24 |
NR5A1
|
NM_004959.4(NR5A1): c.390delG (p.Pro131Argfs)
|
deletion |
Pathogenic |
rs606231207
|
GRCh38 |
Chromosome 9, 124500570: 124500570 |
25 |
NR5A1
|
NM_004959.4(NR5A1): c.390delG (p.Pro131Argfs)
|
deletion |
Pathogenic |
rs606231207
|
GRCh37 |
Chromosome 9, 127262849: 127262849 |
26 |
NR5A1
|
NM_004959.4(NR5A1): c.516C> T (p.Ala172=)
|
single nucleotide variant |
Benign |
rs113506523
|
GRCh38 |
Chromosome 9, 124500444: 124500444 |
27 |
NR5A1
|
NM_004959.4(NR5A1): c.516C> T (p.Ala172=)
|
single nucleotide variant |
Benign |
rs113506523
|
GRCh37 |
Chromosome 9, 127262723: 127262723 |
28 |
NR5A1
|
NM_004959.4(NR5A1): c.1210T> G (p.Tyr404Asp)
|
single nucleotide variant |
Pathogenic |
rs863224904
|
GRCh37 |
Chromosome 9, 127245213: 127245213 |
29 |
NR5A1
|
NM_004959.4(NR5A1): c.1210T> G (p.Tyr404Asp)
|
single nucleotide variant |
Pathogenic |
rs863224904
|
GRCh38 |
Chromosome 9, 124482934: 124482934 |
30 |
NR5A1
|
NM_004959.4(NR5A1): c.151G> T (p.Glu51Ter)
|
single nucleotide variant |
Pathogenic |
rs775441984
|
GRCh37 |
Chromosome 9, 127265451: 127265451 |
31 |
NR5A1
|
NM_004959.4(NR5A1): c.151G> T (p.Glu51Ter)
|
single nucleotide variant |
Pathogenic |
rs775441984
|
GRCh38 |
Chromosome 9, 124503172: 124503172 |
32 |
NR5A1
|
NM_004959.4(NR5A1): c.375G> A (p.Pro125=)
|
single nucleotide variant |
Benign |
rs1110062
|
GRCh38 |
Chromosome 9, 124500585: 124500585 |
33 |
NR5A1
|
NM_004959.4(NR5A1): c.375G> A (p.Pro125=)
|
single nucleotide variant |
Benign |
rs1110062
|
GRCh37 |
Chromosome 9, 127262864: 127262864 |
34 |
NR5A1
|
NM_004959.4(NR5A1): c.274C> T (p.Arg92Trp)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs886039769
|
GRCh37 |
Chromosome 9, 127262965: 127262965 |
35 |
NR5A1
|
NM_004959.4(NR5A1): c.274C> T (p.Arg92Trp)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs886039769
|
GRCh38 |
Chromosome 9, 124500686: 124500686 |
36 |
NR5A1
|
NM_004959.4(NR5A1): c.937C> T (p.Arg313Cys)
|
single nucleotide variant |
Pathogenic/Likely pathogenic |
rs1057517779
|
GRCh37 |
Chromosome 9, 127255362: 127255362 |
37 |
NR5A1
|
NM_004959.4(NR5A1): c.937C> T (p.Arg313Cys)
|
single nucleotide variant |
Pathogenic/Likely pathogenic |
rs1057517779
|
GRCh38 |
Chromosome 9, 124493083: 124493083 |
38 |
NR5A1
|
NM_004959.4(NR5A1): c.938G> T (p.Arg313Leu)
|
single nucleotide variant |
Likely pathogenic |
|
GRCh38 |
Chromosome 9, 124493082: 124493082 |
39 |
NR5A1
|
NM_004959.4(NR5A1): c.938G> T (p.Arg313Leu)
|
single nucleotide variant |
Likely pathogenic |
|
GRCh37 |
Chromosome 9, 127255361: 127255361 |
40 |
NR5A1
|
NM_004959.4(NR5A1): c.34_38delCTGTGinsGACCTGGACCTGT (p.Leu12Aspfs)
|
indel |
Pathogenic |
|
GRCh38 |
Chromosome 9, 124503358: 124503362 |
41 |
NR5A1
|
NM_004959.4(NR5A1): c.34_38delCTGTGinsGACCTGGACCTGT (p.Leu12Aspfs)
|
indel |
Pathogenic |
|
GRCh37 |
Chromosome 9, 127265637: 127265641 |
42 |
NR5A1
|
NM_004959.4(NR5A1): c.236_238delGCC (p.Arg79del)
|
deletion |
Uncertain significance |
|
GRCh37 |
Chromosome 9, 127265364: 127265366 |
43 |
NR5A1
|
NM_004959.4(NR5A1): c.236_238delGCC (p.Arg79del)
|
deletion |
Uncertain significance |
|
GRCh38 |
Chromosome 9, 124503085: 124503087 |
44 |
NR5A1
|
NC_000009.12: g.(?_124482420)_(124482928_?)del
|
deletion |
Likely pathogenic |
|
GRCh37 |
Chromosome 9, 127244699: 127245207 |
45 |
NR5A1
|
NC_000009.12: g.(?_124482420)_(124482928_?)del
|
deletion |
Likely pathogenic |
|
GRCh38 |
Chromosome 9, 124482420: 124482928 |
46 |
NR5A1
|
NM_004959.4(NR5A1): c.1227C> G (p.Tyr409Ter)
|
single nucleotide variant |
Likely pathogenic |
|
GRCh37 |
Chromosome 9, 127245196: 127245196 |
47 |
NR5A1
|
NM_004959.4(NR5A1): c.1227C> G (p.Tyr409Ter)
|
single nucleotide variant |
Likely pathogenic |
|
GRCh38 |
Chromosome 9, 124482917: 124482917 |
48 |
NR5A1
|
NM_004959.4(NR5A1): c.88T> C (p.Cys30Arg)
|
single nucleotide variant |
Uncertain significance |
|
GRCh38 |
Chromosome 9, 124503308: 124503308 |
49 |
NR5A1
|
NM_004959.4(NR5A1): c.88T> C (p.Cys30Arg)
|
single nucleotide variant |
Uncertain significance |
|
GRCh37 |
Chromosome 9, 127265587: 127265587 |