1 |
SLC20A2 |
NM_001257180.2(SLC20A2):c.1784C>T (p.Thr595Met) |
SNV |
Pathogenic
|
29797 |
rs387906654 |
GRCh37: 8:42286286-42286286 GRCh38: 8:42428768-42428768 |
2 |
SLC20A2 |
NM_001257180.2(SLC20A2):c.1492G>A (p.Gly498Arg) |
SNV |
Pathogenic
|
29793 |
rs1586022262 |
GRCh37: 8:42294538-42294538 GRCh38: 8:42437020-42437020 |
3 |
SLC20A2 |
NM_001257180.2(SLC20A2):c.583_584del (p.Val195fs) |
DEL |
Pathogenic
|
75233 |
rs398122397 |
GRCh37: 8:42317443-42317444 GRCh38: 8:42459925-42459926 |
4 |
SLC20A2 |
NM_001257180.2(SLC20A2):c.1828_1831del (p.Ser610fs) |
DEL |
Pathogenic
|
75231 |
rs398122396 |
GRCh37: 8:42275449-42275452 GRCh38: 8:42417931-42417934 |
5 |
SLC20A2 |
NM_001257180.2(SLC20A2):c.509del (p.Ile169_Leu170insTer) |
DEL |
Pathogenic
|
280118 |
rs398122395 |
GRCh37: 8:42320530-42320530 GRCh38: 8:42463012-42463012 |
6 |
SLC20A2 |
SLC20A2, EX6-10DEL |
DEL |
Pathogenic
|
691908 |
|
GRCh37: GRCh38: |
7 |
WDR45 |
NM_001029896.2(WDR45):c.69_75del (p.Cys23fs) |
DEL |
Pathogenic
|
813007 |
rs1602540581 |
GRCh37: X:48935551-48935557 GRCh38: X:49077892-49077898 |
8 |
SLC20A2 |
NM_001257180.2(SLC20A2):c.1144C>T (p.Arg382Ter) |
SNV |
Pathogenic
|
1676262 |
|
GRCh37: 8:42294886-42294886 GRCh38: 8:42437368-42437368 |
9 |
SLC20A2 |
NM_001257180.2(SLC20A2):c.80_92del (p.Asn27fs) |
DEL |
Pathogenic
|
1691845 |
|
GRCh37: 8:42329817-42329829 GRCh38: 8:42472299-42472311 |
10 |
SLC20A2 |
NM_001257180.2(SLC20A2):c.136C>T (p.Gln46Ter) |
SNV |
Pathogenic
|
522849 |
rs751093906 |
GRCh37: 8:42329773-42329773 GRCh38: 8:42472255-42472255 |
11 |
SLC20A2 |
NM_001257180.2(SLC20A2):c.1723G>T (p.Glu575Ter) |
SNV |
Pathogenic
|
522850 |
rs387906653 |
GRCh37: 8:42286347-42286347 GRCh38: 8:42428829-42428829 |
12 |
SLC20A2 |
NM_001257180.2(SLC20A2):c.1375G>T (p.Glu459Ter) |
SNV |
Pathogenic
|
584447 |
rs1563452941 |
GRCh37: 8:42294655-42294655 GRCh38: 8:42437137-42437137 |
13 |
SLC20A2 |
NM_001257180.2(SLC20A2):c.935-2A>G |
SNV |
Pathogenic
|
636249 |
rs1586025869 |
GRCh37: 8:42295097-42295097 GRCh38: 8:42437579-42437579 |
14 |
SLC20A2 |
NM_001257180.2(SLC20A2):c.99del (p.Phe33fs) |
DEL |
Pathogenic
|
930597 |
rs1807706006 |
GRCh37: 8:42329810-42329810 GRCh38: 8:42472292-42472292 |
15 |
SLC20A2 |
NM_001257180.2(SLC20A2):c.731-18_738del |
DEL |
Pathogenic
|
1702969 |
|
GRCh37: 8:42297164-42297189 GRCh38: 8:42439646-42439671 |
16 |
SLC20A2 |
NM_001257180.2(SLC20A2):c.1637_1638del (p.Thr546fs) |
MICROSAT |
Pathogenic
|
1705290 |
|
GRCh37: 8:42287653-42287654 GRCh38: 8:42430135-42430136 |
17 |
SLC20A2 |
NM_001257180.2(SLC20A2):c.1802C>G (p.Ser601Trp) |
SNV |
Pathogenic
|
29794 |
rs387906652 |
GRCh37: 8:42275478-42275478 GRCh38: 8:42417960-42417960 |
18 |
SLC20A2 |
NM_001257180.2(SLC20A2):c.1802C>T (p.Ser601Leu) |
SNV |
Pathogenic/Likely Pathogenic
|
29795 |
rs387906652 |
GRCh37: 8:42275478-42275478 GRCh38: 8:42417960-42417960 |
19 |
SLC20A2 |
NM_001257180.2(SLC20A2):c.1703C>T (p.Pro568Leu) |
SNV |
Likely Pathogenic
|
1064453 |
|
GRCh37: 8:42287588-42287588 GRCh38: 8:42430070-42430070 |
20 |
SLC20A2 |
NM_001257180.2(SLC20A2):c.1794+1G>C |
SNV |
Likely Pathogenic
|
1339721 |
|
GRCh37: 8:42286275-42286275 GRCh38: 8:42428757-42428757 |
21 |
SLC20A2 |
NM_001257180.2(SLC20A2):c.1845C>G (p.Asp615Glu) |
SNV |
Likely Pathogenic
|
1343824 |
|
GRCh37: 8:42275435-42275435 GRCh38: 8:42417917-42417917 |
22 |
SLC20A2 |
NM_001257180.2(SLC20A2):c.165_169del (p.Glu55fs) |
DEL |
Likely Pathogenic
|
1325076 |
|
GRCh37: 8:42329740-42329744 GRCh38: 8:42472222-42472226 |
23 |
SLC20A2 |
NM_001257180.2(SLC20A2):c.290-1G>A |
SNV |
Likely Pathogenic
|
1325077 |
|
GRCh37: 8:42323436-42323436 GRCh38: 8:42465918-42465918 |
24 |
SLC20A2 |
NM_001257180.2(SLC20A2):c.303del (p.Trp101fs) |
DEL |
Likely Pathogenic
|
634896 |
rs1563490467 |
GRCh37: 8:42323422-42323422 GRCh38: 8:42465904-42465904 |
25 |
SLC20A2 |
NM_001257180.2(SLC20A2):c.1795-1G>A |
SNV |
Likely Pathogenic
|
634897 |
rs1563431044 |
GRCh37: 8:42275486-42275486 GRCh38: 8:42417968-42417968 |
26 |
SLC20A2 |
NM_001257180.2(SLC20A2):c.21del (p.Leu7fs) |
DEL |
Likely Pathogenic
|
634898 |
rs1563498184 |
GRCh37: 8:42329888-42329888 GRCh38: 8:42472370-42472370 |
27 |
SLC20A2 |
NC_000008.10:g.(?_42275320)_(42297172_42302163)del |
DEL |
Likely Pathogenic
|
634890 |
|
GRCh37: 8:42275320-42302163 GRCh38: 8:42417802-42444645 |
28 |
SLC20A2 |
NM_001257180.2(SLC20A2):c.1520_1521del (p.Val507fs) |
DEL |
Likely Pathogenic
|
634891 |
rs1563452322 |
GRCh37: 8:42294509-42294510 GRCh38: 8:42436991-42436992 |
29 |
SLC20A2 |
NM_001257180.2(SLC20A2):c.188G>A (p.Gly63Asp) |
SNV |
Likely Pathogenic
|
634892 |
rs1563497714 |
GRCh37: 8:42329721-42329721 GRCh38: 8:42472203-42472203 |
30 |
SLC20A2 |
NM_001257180.2(SLC20A2):c.187G>A (p.Gly63Ser) |
SNV |
Likely Pathogenic
|
634893 |
rs1563497719 |
GRCh37: 8:42329722-42329722 GRCh38: 8:42472204-42472204 |
31 |
SLC20A2 |
NM_001257180.2(SLC20A2):c.1196A>C (p.His399Pro) |
SNV |
Likely Pathogenic
|
634894 |
rs1563453866 |
GRCh37: 8:42294834-42294834 GRCh38: 8:42437316-42437316 |
32 |
SLC20A2 |
NC_000008.10:g.(42297172_42302163)_(42302281_42317413)del |
DEL |
Likely Pathogenic
|
634895 |
|
GRCh37: 8:42297172-42317413 GRCh38: 8:42439654-42459895 |
33 |
SLC20A2 |
NM_001257180.2(SLC20A2):c.1723G>A (p.Glu575Lys) |
SNV |
Likely Pathogenic
|
29796 |
rs387906653 |
GRCh37: 8:42286347-42286347 GRCh38: 8:42428829-42428829 |
34 |
overlap with 8 genes |
|
DEL |
Likely Pathogenic
|
236030 |
|
GRCh37: 8:42338721-42916885 GRCh38: |
35 |
SLC20A2 |
NM_001257180.2(SLC20A2):c.-89A>G |
SNV |
Uncertain Significance
|
363095 |
rs185590768 |
GRCh37: 8:42329997-42329997 GRCh38: 8:42472479-42472479 |
36 |
SLC20A2 |
NM_001257180.2(SLC20A2):c.1576G>T (p.Val526Leu) |
SNV |
Uncertain Significance
|
363070 |
rs1420760497 |
GRCh37: 8:42287715-42287715 GRCh38: 8:42430197-42430197 |
37 |
SLC20A2 |
NM_001257180.2(SLC20A2):c.*538C>T |
SNV |
Uncertain Significance
|
363057 |
rs746914329 |
GRCh37: 8:42274783-42274783 GRCh38: 8:42417265-42417265 |
38 |
SLC20A2 |
NM_001257180.2(SLC20A2):c.1090G>A (p.Asp364Asn) |
SNV |
Uncertain Significance
|
363076 |
rs748895007 |
GRCh37: 8:42294940-42294940 GRCh38: 8:42437422-42437422 |
39 |
SLC20A2 |
NM_001257180.2(SLC20A2):c.883C>T (p.Leu295=) |
SNV |
Uncertain Significance
|
363082 |
rs1212922301 |
GRCh37: 8:42297019-42297019 GRCh38: 8:42439501-42439501 |
40 |
SLC20A2 |
NM_001257180.2(SLC20A2):c.*171G>A |
SNV |
Uncertain Significance
|
363063 |
rs908206225 |
GRCh37: 8:42275150-42275150 GRCh38: 8:42417632-42417632 |
41 |
SLC20A2 |
NM_001257180.2(SLC20A2):c.834G>A (p.Lys278=) |
SNV |
Uncertain Significance
|
363085 |
rs778920007 |
GRCh37: 8:42297068-42297068 GRCh38: 8:42439550-42439550 |
42 |
SLC20A2 |
NM_001257180.2(SLC20A2):c.*1069G>C |
SNV |
Uncertain Significance
|
363052 |
rs1010204441 |
GRCh37: 8:42274252-42274252 GRCh38: 8:42416734-42416734 |
43 |
SLC20A2 |
NM_001257180.2(SLC20A2):c.*660T>C |
SNV |
Uncertain Significance
|
363055 |
rs1211116059 |
GRCh37: 8:42274661-42274661 GRCh38: 8:42417143-42417143 |
44 |
SLC20A2 |
NM_001257180.2(SLC20A2):c.*409A>G |
SNV |
Uncertain Significance
|
363058 |
rs190717111 |
GRCh37: 8:42274912-42274912 GRCh38: 8:42417394-42417394 |
45 |
SLC20A2 |
NM_001257180.2(SLC20A2):c.*70C>T |
SNV |
Uncertain Significance
|
363067 |
rs371247567 |
GRCh37: 8:42275251-42275251 GRCh38: 8:42417733-42417733 |
46 |
SLC20A2 |
NM_001257180.2(SLC20A2):c.*124G>T |
SNV |
Uncertain Significance
|
363064 |
rs948433091 |
GRCh37: 8:42275197-42275197 GRCh38: 8:42417679-42417679 |
47 |
SLC20A2 |
NM_001257180.2(SLC20A2):c.*289A>C |
SNV |
Uncertain Significance
|
363061 |
rs892436898 |
GRCh37: 8:42275032-42275032 GRCh38: 8:42417514-42417514 |
48 |
SLC20A2 |
NM_001257180.2(SLC20A2):c.553G>C (p.Val185Leu) |
SNV |
Uncertain Significance
|
363089 |
rs188325552 |
GRCh37: 8:42317474-42317474 GRCh38: 8:42459956-42459956 |
49 |
SLC20A2 |
NM_001257180.2(SLC20A2):c.1803G>A (p.Ser601=) |
SNV |
Uncertain Significance
|
363069 |
rs761069656 |
GRCh37: 8:42275477-42275477 GRCh38: 8:42417959-42417959 |
50 |
SLC20A2 |
NM_001257180.2(SLC20A2):c.679G>A (p.Ala227Thr) |
SNV |
Uncertain Significance
|
908503 |
rs140978915 |
GRCh37: 8:42302215-42302215 GRCh38: 8:42444697-42444697 |