| 11605802 | CV305383 | single nucleotide variant | NM_006749.5(SLC20A2):c.-288G>C | Idiopathic basal ganglia calcification 1 [RCV005420197] | uncertain significance | 8 | 42541844 | 42541844 | Human | 1 | name |
| 11608613 | CV305384 | single nucleotide variant | NM_006749.5(SLC20A2):c.-305G>A | Idiopathic basal ganglia calcification 1 [RCV005420198]|not provided [RCV004712586] | benign | 8 | 42541861 | 42541861 | Human | 1 | name |
| 11602308 | CV305386 | single nucleotide variant | NM_006749.4(SLC20A2):c.-534A>T | Idiopathic basal ganglia calcification 1 [RCV005420202]|not provided [RCV004712587] | benign|likely benign | 8 | 42542090 | 42542090 | Human | 1 | name |
| 11606079 | CV309191 | single nucleotide variant | NM_006749.4(SLC20A2):c.-436C>T | Idiopathic basal ganglia calcification 1 [RCV005420200] | uncertain significance | 8 | 42541992 | 42541992 | Human | 1 | name |
| 11606567 | CV309192 | single nucleotide variant | NM_006749.4(SLC20A2):c.-568C>A | Idiopathic basal ganglia calcification 1 [RCV005420203] | uncertain significance | 8 | 42542124 | 42542124 | Human | 1 | name |
| 11610427 | CV314461 | single nucleotide variant | NM_006749.4(SLC20A2):c.-457G>T | Idiopathic basal ganglia calcification 1 [RCV005420201] | uncertain significance | 8 | 42542013 | 42542013 | Human | 1 | name |
| 11611031 | CV314475 | single nucleotide variant | NM_006749.4(SLC20A2):c.-592C>T | Idiopathic basal ganglia calcification 1 [RCV005420204] | benign|likely benign | 8 | 42542148 | 42542148 | Human | 1 | name |
| 11599379 | CV314509 | single nucleotide variant | NM_006749.5(SLC20A2):c.-389G>A | Idiopathic basal ganglia calcification 1 [RCV005420199] | uncertain significance | 8 | 42541945 | 42541945 | Human | 1 | name |
| 28867676 | CV899625 | single nucleotide variant | NM_006749.5(SLC20A2):c.-279C>T | Idiopathic basal ganglia calcification 1 [RCV005420359] | uncertain significance | 8 | 42541835 | 42541835 | Human | 1 | name |
| 28867678 | CV899626 | single nucleotide variant | NM_006749.5(SLC20A2):c.-350T>G | Idiopathic basal ganglia calcification 1 [RCV005420360] | uncertain significance | 8 | 42541906 | 42541906 | Human | 1 | name |
| 28867680 | CV899627 | single nucleotide variant | NM_006749.5(SLC20A2):c.-366T>G | Idiopathic basal ganglia calcification 1 [RCV005420361] | uncertain significance | 8 | 42541922 | 42541922 | Human | 1 | name |
| 28871610 | CV899628 | single nucleotide variant | NM_006749.5(SLC20A2):c.-372T>C | Idiopathic basal ganglia calcification 1 [RCV005420372] | uncertain significance | 8 | 42541928 | 42541928 | Human | 1 | name |
| 28871613 | CV899629 | single nucleotide variant | NM_006749.4(SLC20A2):c.-410C>T | Idiopathic basal ganglia calcification 1 [RCV005420373] | uncertain significance | 8 | 42541966 | 42541966 | Human | 1 | name |
| 28871614 | CV899630 | single nucleotide variant | NM_006749.4(SLC20A2):c.-411C>T | Idiopathic basal ganglia calcification 1 [RCV005420374] | uncertain significance | 8 | 42541967 | 42541967 | Human | 1 | name |
| 28871617 | CV899631 | single nucleotide variant | NM_006749.4(SLC20A2):c.-415G>A | Idiopathic basal ganglia calcification 1 [RCV005420375] | uncertain significance | 8 | 42541971 | 42541971 | Human | 1 | name |
| 11603116 | CV305380 | single nucleotide variant | NM_001257180.2(SLC20A2):c.-89A>G | Idiopathic basal ganglia calcification 1 [RCV005420194]|not provided [RCV003430951] | benign|likely benign|uncertain significance | 8 | 42472479 | 42472479 | Human | 1 | name |
| 11609747 | CV314457 | single nucleotide variant | NM_001257180.2(SLC20A2):c.*70C>T | Idiopathic basal ganglia calcification 1 [RCV005420166] | likely benign|uncertain significance | 8 | 42417733 | 42417733 | Human | 1 | name |
| 11608358 | CV314480 | duplication | NM_006749.5(SLC20A2):c.-265+8dup | Idiopathic basal ganglia calcification 1 [RCV005420195] | uncertain significance | 8 | 42541812 | 42541813 | Human | 1 | name |
| 11599534 | CV314483 | duplication | NM_006749.5(SLC20A2):c.-265+5dup | Idiopathic basal ganglia calcification 1 [RCV005420196] | uncertain significance | 8 | 42541815 | 42541816 | Human | 1 | name |
| 11603757 | CV305332 | single nucleotide variant | NM_001257180.2(SLC20A2):c.*926C>T | Idiopathic basal ganglia calcification 1 [RCV005420153] | benign|likely benign | 8 | 42416877 | 42416877 | Human | 1 | name |
| 11604492 | CV305333 | single nucleotide variant | NM_001257180.2(SLC20A2):c.*538C>T | Idiopathic basal ganglia calcification 1 [RCV005420156] | uncertain significance | 8 | 42417265 | 42417265 | Human | 1 | name |
| 11609101 | CV305336 | single nucleotide variant | NM_001257180.2(SLC20A2):c.*409A>G | Idiopathic basal ganglia calcification 1 [RCV005420157] | likely benign|uncertain significance | 8 | 42417394 | 42417394 | Human | 1 | name |
| 11610980 | CV305337 | single nucleotide variant | NM_001257180.2(SLC20A2):c.*289A>C | Idiopathic basal ganglia calcification 1 [RCV005420160] | uncertain significance | 8 | 42417514 | 42417514 | Human | 1 | name |
| 11606359 | CV305339 | single nucleotide variant | NM_001257180.2(SLC20A2):c.*171G>A | Idiopathic basal ganglia calcification 1 [RCV005420162] | uncertain significance | 8 | 42417632 | 42417632 | Human | 1 | name |
| 11610013 | CV309168 | single nucleotide variant | NM_001257180.2(SLC20A2):c.*124G>T | Idiopathic basal ganglia calcification 1 [RCV005420163] | uncertain significance | 8 | 42417679 | 42417679 | Human | 1 | name |
| 11600654 | CV314428 | single nucleotide variant | NM_001257180.2(SLC20A2):c.*263A>C | Idiopathic basal ganglia calcification 1 [RCV005420161] | benign|likely benign | 8 | 42417540 | 42417540 | Human | 1 | name |
| 11601318 | CV314429 | single nucleotide variant | NM_001257180.2(SLC20A2):c.*113A>T | Idiopathic basal ganglia calcification 1 [RCV005420164]|not provided [RCV001562742] | benign|likely benign | 8 | 42417690 | 42417690 | Human | 1 | name |
| 11606861 | CV314430 | single nucleotide variant | NM_001257180.2(SLC20A2):c.*112G>T | Idiopathic basal ganglia calcification 1 [RCV005420165]|not provided [RCV001597124] | benign|likely benign | 8 | 42417691 | 42417691 | Human | 1 | name |
| 11608610 | CV314443 | single nucleotide variant | NM_001257180.2(SLC20A2):c.*660T>C | Idiopathic basal ganglia calcification 1 [RCV005420154] | uncertain significance | 8 | 42417143 | 42417143 | Human | 1 | name |
| 11600329 | CV314448 | single nucleotide variant | NM_001257180.2(SLC20A2):c.*570G>T | Idiopathic basal ganglia calcification 1 [RCV005420155]|not provided [RCV004712583] | benign | 8 | 42417233 | 42417233 | Human | 1 | name |
| 11599920 | CV314455 | single nucleotide variant | NM_001257180.2(SLC20A2):c.*380C>T | Idiopathic basal ganglia calcification 1 [RCV005420158]|not provided [RCV004712584] | benign|likely benign | 8 | 42417423 | 42417423 | Human | 1 | name |
| 11606677 | CV314456 | single nucleotide variant | NM_001257180.2(SLC20A2):c.*361A>G | Idiopathic basal ganglia calcification 1 [RCV005420159]|not provided [RCV004712585] | benign | 8 | 42417442 | 42417442 | Human | 1 | name |
| 28870524 | CV899608 | single nucleotide variant | NM_001257180.2(SLC20A2):c.*925G>T | Idiopathic basal ganglia calcification 1 [RCV005420363] | uncertain significance | 8 | 42416878 | 42416878 | Human | 1 | name |
| 28870527 | CV899609 | single nucleotide variant | NM_001257180.2(SLC20A2):c.*798G>A | Idiopathic basal ganglia calcification 1 [RCV005420364] | uncertain significance | 8 | 42417005 | 42417005 | Human | 1 | name |
| 28871196 | CV899610 | single nucleotide variant | NM_001257180.2(SLC20A2):c.*539G>A | Idiopathic basal ganglia calcification 1 [RCV005420368] | uncertain significance | 8 | 42417264 | 42417264 | Human | 1 | name |
| 28871197 | CV899611 | single nucleotide variant | NM_001257180.2(SLC20A2):c.*482T>C | Idiopathic basal ganglia calcification 1 [RCV005420369] | uncertain significance | 8 | 42417321 | 42417321 | Human | 1 | name |
| 28906372 | CV899612 | single nucleotide variant | NM_001257180.2(SLC20A2):c.*120C>G | Idiopathic basal ganglia calcification 1 [RCV005420349] | benign | 8 | 42417683 | 42417683 | Human | 1 | name |
| 28867673 | CV899624 | single nucleotide variant | NM_001257180.2(SLC20A2):c.-181T>A | Idiopathic basal ganglia calcification 1 [RCV005420357] | uncertain significance | 8 | 42472571 | 42472571 | Human | 1 | name |
| 150544937 | CV1315339 | single nucleotide variant | NM_001257180.2(SLC20A2):c.290-1G>A | Idiopathic basal ganglia calcification 1 [RCV005420411] | likely pathogenic | 8 | 42465918 | 42465918 | Human | 1 | name |
| 151350731 | CV1325759 | single nucleotide variant | NM_001257180.2(SLC20A2):c.935-3C>G | Inborn genetic diseases [RCV004040941]|not provided [RCV002541503]|not specified [RCV001815105] | likely pathogenic|uncertain significance | 8 | 42437580 | 42437580 | Human | 1 | name |
| 405241990 | CV2905071 | single nucleotide variant | NM_001257180.2(SLC20A2):c.935-1G>A | not provided [RCV003557395] | pathogenic | 8 | 42437578 | 42437578 | Human | | name |
| 405229253 | CV3075515 | single nucleotide variant | NM_001257180.2(SLC20A2):c.290-8A>G | Idiopathic basal ganglia calcification 1 [RCV005420450]|not provided [RCV003734608] | pathogenic | 8 | 42465925 | 42465925 | Human | 1 | name |
| 11608180 | CV309189 | single nucleotide variant | NM_001257180.2(SLC20A2):c.290-5T>C | Idiopathic basal ganglia calcification 1 [RCV005420190]|not provided [RCV000886678] | benign|likely benign | 8 | 42465922 | 42465922 | Human | 1 | name |
| 11607333 | CV314427 | single nucleotide variant | NM_001257180.2(SLC20A2):c.*1069G>C | Idiopathic basal ganglia calcification 1 [RCV005420151] | uncertain significance | 8 | 42416734 | 42416734 | Human | 1 | name |
| 11612346 | CV314434 | single nucleotide variant | NM_001257180.2(SLC20A2):c.*1057C>G | Idiopathic basal ganglia calcification 1 [RCV005420152]|not provided [RCV004712582] | benign | 8 | 42416746 | 42416746 | Human | 1 | name |
| 402508565 | CV3181752 | single nucleotide variant | NM_001257180.2(SLC20A2):c.731-3T>C | not provided [RCV003878586] | uncertain significance | 8 | 42439656 | 42439656 | Human | | name |
| 405270743 | CV3219728 | single nucleotide variant | NM_001257180.2(SLC20A2):c.517-3C>T | SLC20A2-related disorder [RCV003971477] | likely benign | 8 | 42459995 | 42459995 | Human | | name , trait , alternate_id |
| 405711156 | CV3225801 | single nucleotide variant | NM_001257180.2(SLC20A2):c.613+1G>A | Idiopathic basal ganglia calcification 1 [RCV005420451] | likely pathogenic | 8 | 42459895 | 42459895 | Human | 1 | name |
| 405655143 | CV3228384 | single nucleotide variant | NM_001257180.2(SLC20A2):c.614-4C>T | not specified [RCV003995119] | uncertain significance | 8 | 42444766 | 42444766 | Human | | name |
| 405854425 | CV3393914 | single nucleotide variant | NM_001257180.2(SLC20A2):c.431-2A>T | not provided [RCV004547140] | pathogenic | 8 | 42463092 | 42463092 | Human | | name |
| 408383558 | CV3504049 | single nucleotide variant | NM_001257180.2(SLC20A2):c.289+5G>C | SLC20A2-related disorder [RCV004730670] | uncertain significance | 8 | 42472097 | 42472097 | Human | | name , trait , alternate_id |
| 597639499 | CV3596425 | single nucleotide variant | NM_001257180.2(SLC20A2):c.289+5G>A | Inborn genetic diseases [RCV004971233] | uncertain significance | 8 | 42472097 | 42472097 | Human | 1 | name |
| 597919324 | CV3737949 | single nucleotide variant | NM_001257180.2(SLC20A2):c.614-7T>C | not provided [RCV005074548] | likely benign | 8 | 42444769 | 42444769 | Human | | name |
| 14698401 | CV624067 | single nucleotide variant | NM_001257180.2(SLC20A2):c.935-2A>G | Idiopathic basal ganglia calcification 1 [RCV005420247]|not provided [RCV003565443] | pathogenic|likely pathogenic | 8 | 42437579 | 42437579 | Human | 1 | name |
| 15165718 | CV744434 | single nucleotide variant | NM_001257180.2(SLC20A2):c.431-6A>T | not provided [RCV000904284] | likely benign | 8 | 42463096 | 42463096 | Human | | name |
| 21069764 | CV796177 | single nucleotide variant | NM_001257180.2(SLC20A2):c.430+3A>C | not provided [RCV000999033] | uncertain significance | 8 | 42465774 | 42465774 | Human | | name |
| 28870520 | CV899607 | single nucleotide variant | NM_001257180.2(SLC20A2):c.*1320C>T | Idiopathic basal ganglia calcification 1 [RCV005420362] | uncertain significance | 8 | 42416483 | 42416483 | Human | 1 | name |
| 150435573 | CV1221676 | deletion | NM_001257180.2(SLC20A2):c.935-36del | not provided [RCV001609364] | benign | 8 | 42437613 | 42437613 | Human | | name |
| 150506640 | CV1242264 | duplication | NM_001257180.2(SLC20A2):c.935-49dup | not provided [RCV001658618] | benign | 8 | 42437612 | 42437613 | Human | | name |
| 150441550 | CV1246752 | single nucleotide variant | NM_001257180.2(SLC20A2):c.430+21C>A | not provided [RCV001666406] | benign | 8 | 42465756 | 42465756 | Human | | name |
| 150450931 | CV1261013 | single nucleotide variant | NM_001257180.2(SLC20A2):c.935-45A>G | not provided [RCV001680682] | benign | 8 | 42437622 | 42437622 | Human | | name |
| 150477950 | CV1281787 | single nucleotide variant | NM_001257180.2(SLC20A2):c.517-25A>G | not provided [RCV001714211] | benign | 8 | 42460017 | 42460017 | Human | | name |
| 150529426 | CV1288975 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1523+1G>T | not provided [RCV001727444] | pathogenic | 8 | 42436988 | 42436988 | Human | | name |
| 151663096 | CV1330931 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1794+1G>C | Idiopathic basal ganglia calcification 1 [RCV005420417]|SLC20A2-related disorder [RCV003416487]|not provided [RCV003154201] | pathogenic|likely pathogenic | 8 | 42428757 | 42428757 | Human | 1 | name , trait , alternate_id |
| 152081893 | CV1526100 | single nucleotide variant | NM_001257180.2(SLC20A2):c.517-10C>T | not provided [RCV002170645] | likely benign | 8 | 42460002 | 42460002 | Human | | name |
| 152171457 | CV1544177 | single nucleotide variant | NM_001257180.2(SLC20A2):c.935-19C>G | not provided [RCV002162119] | likely benign | 8 | 42437596 | 42437596 | Human | | name |
| 152074506 | CV1557619 | duplication | NM_001257180.2(SLC20A2):c.431-11dup | not provided [RCV002130035] | benign | 8 | 42463100 | 42463101 | Human | | name |
| 152068272 | CV1571148 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1795-9C>T | not provided [RCV002129264] | likely benign | 8 | 42417976 | 42417976 | Human | | name |
| 152118545 | CV1600544 | single nucleotide variant | NM_001257180.2(SLC20A2):c.935-20C>T | not provided [RCV002153958] | likely benign | 8 | 42437597 | 42437597 | Human | | name |
| 152100351 | CV1610820 | single nucleotide variant | NM_001257180.2(SLC20A2):c.614-17C>G | not provided [RCV002133197] | likely benign | 8 | 42444779 | 42444779 | Human | | name |
| 152050309 | CV1626267 | deletion | NM_001257180.2(SLC20A2):c.431-11del | not provided [RCV002189329] | benign | 8 | 42463101 | 42463101 | Human | | name |
| 152168100 | CV1645032 | single nucleotide variant | NM_001257180.2(SLC20A2):c.613+19C>G | not provided [RCV002142330] | likely benign | 8 | 42459877 | 42459877 | Human | | name |
| 156009096 | CV2038871 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1710-7C>T | not provided [RCV002795000] | likely benign | 8 | 42428849 | 42428849 | Human | | name |
| 156235513 | CV2072442 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1709+5G>T | not provided [RCV002830213] | uncertain significance | 8 | 42430059 | 42430059 | Human | | name |
| 156124777 | CV2112278 | single nucleotide variant | NM_001257180.2(SLC20A2):c.934+10G>A | not provided [RCV002927963] | benign | 8 | 42439440 | 42439440 | Human | | name |
| 401872621 | CV2749669 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1794+1G>A | not provided [RCV003332797] | pathogenic | 8 | 42428757 | 42428757 | Human | | name |
| 401909211 | CV2821070 | deletion | NM_001257180.2(SLC20A2):c.1794+1del | not provided [RCV003423920] | likely pathogenic | 8 | 42428757 | 42428757 | Human | | name |
| 11612302 | CV305376 | single nucleotide variant | NM_001257180.2(SLC20A2):c.290-13C>A | Idiopathic basal ganglia calcification 1 [RCV005420191]|not provided [RCV001522830] | benign|likely benign | 8 | 42465930 | 42465930 | Human | 1 | name |
| 596946749 | CV3548579 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1523+1G>A | not provided [RCV004810406] | pathogenic | 8 | 42436988 | 42436988 | Human | | name |
| 13519267 | CV486442 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1710-1G>A | not provided [RCV000585519] | likely pathogenic | 8 | 42428843 | 42428843 | Human | | name |
| 14696197 | CV622737 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1795-1G>A | Idiopathic basal ganglia calcification 1 [RCV005420245] | likely pathogenic | 8 | 42417968 | 42417968 | Human | 1 | name |
| 28871435 | CV900500 | single nucleotide variant | NM_001257180.2(SLC20A2):c.935-12A>C | Idiopathic basal ganglia calcification 1 [RCV005420371]|not provided [RCV002067996] | benign|likely benign | 8 | 42437589 | 42437589 | Human | 1 | name |
| 28867674 | CV900501 | single nucleotide variant | NM_001257180.2(SLC20A2):c.-264-4A>G | Idiopathic basal ganglia calcification 1 [RCV005420358] | uncertain significance | 8 | 42472658 | 42472658 | Human | 1 | name |
| 150413295 | CV1177038 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1524-35A>G | not provided [RCV001547747] | likely benign | 8 | 42430284 | 42430284 | Human | | name |
| 150411949 | CV1177039 | single nucleotide variant | NM_001257180.2(SLC20A2):c.430+132A>G | not provided [RCV001547356] | likely benign | 8 | 42465645 | 42465645 | Human | | name |
| 150462457 | CV1206592 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1523+42C>A | not provided [RCV001586993] | likely benign | 8 | 42436947 | 42436947 | Human | | name |
| 150498773 | CV1208976 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1523+41G>T | not provided [RCV001594193] | likely benign | 8 | 42436948 | 42436948 | Human | | name |
| 150440990 | CV1220248 | single nucleotide variant | NM_001257180.2(SLC20A2):c.517-250G>T | not provided [RCV001610232] | benign | 8 | 42460242 | 42460242 | Human | | name |
| 150505983 | CV1226233 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1795-32C>T | not provided [RCV001635601] | benign | 8 | 42417999 | 42417999 | Human | | name |
| 150430767 | CV1243471 | single nucleotide variant | NM_001257180.2(SLC20A2):c.730+173T>C | not provided [RCV001663090] | benign | 8 | 42444473 | 42444473 | Human | | name |
| 150510259 | CV1286757 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1523+24C>G | not provided [RCV001720992] | benign | 8 | 42436965 | 42436965 | Human | | name |
| 152127167 | CV1533953 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1794+18G>A | not provided [RCV002136465] | likely benign | 8 | 42428740 | 42428740 | Human | | name |
| 152064697 | CV1539613 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1795-15T>C | not provided [RCV002147248] | likely benign | 8 | 42417982 | 42417982 | Human | | name |
| 156120455 | CV1959305 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1710-16C>T | not provided [RCV002571841] | benign | 8 | 42428858 | 42428858 | Human | | name |
| 156149767 | CV1967399 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1794+17C>T | not provided [RCV002594108] | likely benign | 8 | 42428741 | 42428741 | Human | | name |
| 597832583 | CV3760238 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1709+20C>T | not provided [RCV005084981] | benign | 8 | 42430044 | 42430044 | Human | | name |
| 150424331 | CV1184112 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1710-141T>G | not provided [RCV001556521] | likely benign | 8 | 42428983 | 42428983 | Human | | name |
| 150423432 | CV1184113 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1710-148C>T | not provided [RCV001555314] | likely benign | 8 | 42428990 | 42428990 | Human | | name |
| 150410275 | CV1190780 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1794+150T>G | not provided [RCV001565964] | likely benign | 8 | 42428608 | 42428608 | Human | | name |
| 150508800 | CV1214136 | duplication | NM_001257180.2(SLC20A2):c.1524-131dup | not provided [RCV001596657] | likely benign | 8 | 42430371 | 42430372 | Human | | name |
| 150477984 | CV1252102 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1524-176A>G | not provided [RCV001672302] | benign | 8 | 42430425 | 42430425 | Human | | name |
| 150464763 | CV1252762 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1794+159T>C | not provided [RCV001670086] | benign | 8 | 42428599 | 42428599 | Human | | name |
| 150441963 | CV1287648 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1709+275G>C | not provided [RCV001725368] | benign | 8 | 42429789 | 42429789 | Human | | name |
| 329353280 | CV2477051 | deletion | NM_001257180.2(SLC20A2):c.730_730+1del | not provided [RCV003223283] | pathogenic | 8 | 42444645 | 42444646 | Human | | name |
| 153348329 | CV1695361 | deletion | NM_001257180.2(SLC20A2):c.731-18_738del | Idiopathic basal ganglia calcification 1 [RCV005420425] | pathogenic | 8 | 42439646 | 42439671 | Human | 1 | name |
| 152098182 | CV1611669 | single nucleotide variant | NM_001257180.2(SLC20A2):c.81C>T (p.Asn27=) | not provided [RCV002172749] | likely benign | 8 | 42472310 | 42472310 | Human | | name |
| 156333754 | CV2112927 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1A>G (p.Met1Val) | not provided [RCV002938510] | uncertain significance | 8 | 42472390 | 42472390 | Human | | name |
| 11582309 | CV270630 | single nucleotide variant | NM_001257180.2(SLC20A2):c.58T>C (p.Leu20=) | Idiopathic basal ganglia calcification 1 [RCV005419950]|not provided [RCV000860753]|not specified [RCV000394743] | benign|likely benign | 8 | 42472333 | 42472333 | Human | 1 | name |
| 598269262 | CV3921811 | single nucleotide variant | NM_001257180.2(SLC20A2):c.4G>A (p.Ala2Thr) | Inborn genetic diseases [RCV005281931] | uncertain significance | 8 | 42472387 | 42472387 | Human | 1 | name |
| 14696198 | CV622734 | deletion | NM_001257180.2(SLC20A2):c.21del (p.Leu7fs) | Idiopathic basal ganglia calcification 1 [RCV005420246]|not provided [RCV005092346] | pathogenic|likely pathogenic | 8 | 42472370 | 42472370 | Human | 1 | name |
| 8633017 | CV88231 | single nucleotide variant | NM_006749.4(SLC20A2):c.107C>T (p.Ala36Val) | Malignant melanoma [RCV000068323] | not provided | 8 | 42472284 | 42472284 | Human | | name |
| 28908999 | CV899623 | single nucleotide variant | NM_001257180.2(SLC20A2):c.69T>A (p.Ser23=) | Idiopathic basal ganglia calcification 1 [RCV005420356] | uncertain significance | 8 | 42472322 | 42472322 | Human | 1 | name |
| 151784953 | CV1454725 | single nucleotide variant | NM_001257180.2(SLC20A2):c.23G>A (p.Trp8Ter) | not provided [RCV001972438] | pathogenic | 8 | 42472368 | 42472368 | Human | | name |
| 11608462 | CV314460 | single nucleotide variant | NM_001257180.2(SLC20A2):c.138G>A (p.Gln46=) | Idiopathic basal ganglia calcification 1 [RCV005420193]|not provided [RCV000972160] | benign|likely benign | 8 | 42472253 | 42472253 | Human | 1 | name |
| 11604793 | CV314479 | single nucleotide variant | NM_001257180.2(SLC20A2):c.186A>G (p.Leu62=) | Idiopathic basal ganglia calcification 1 [RCV005420192]|SLC20A2-related disorder [RCV003897809]|not provided [RCV000935048] | benign|likely benign|uncertain significance | 8 | 42472205 | 42472205 | Human | 1 | name , trait , alternate_id |
| 402503310 | CV3171008 | single nucleotide variant | NM_001257180.2(SLC20A2):c.261C>T (p.Leu87=) | not provided [RCV003878195] | likely benign | 8 | 42472130 | 42472130 | Human | | name |
| 15116793 | CV736681 | single nucleotide variant | NM_001257180.2(SLC20A2):c.219T>C (p.Gly73=) | not provided [RCV000895264] | likely benign | 8 | 42472172 | 42472172 | Human | | name |
| 8633016 | CV88230 | single nucleotide variant | NM_006749.4(SLC20A2):c.529C>T (p.Pro177Ser) | Malignant melanoma [RCV000068322] | not provided | 8 | 42459980 | 42459980 | Human | | name |
| 38460193 | CV919155 | deletion | NM_001257180.2(SLC20A2):c.99del (p.Phe33fs) | Idiopathic basal ganglia calcification 1 [RCV005420378] | pathogenic | 8 | 42472292 | 42472292 | Human | 1 | name |
| 150542711 | CV1302682 | single nucleotide variant | NM_001257180.2(SLC20A2):c.38G>A (p.Gly13Asp) | not provided [RCV001761372] | uncertain significance | 8 | 42472353 | 42472353 | Human | | name |
| 151234785 | CV1320506 | single nucleotide variant | NM_001257180.2(SLC20A2):c.56T>C (p.Ile19Thr) | Idiopathic basal ganglia calcification 1 [RCV005420414]|not provided [RCV001800130] | uncertain significance | 8 | 42472335 | 42472335 | Human | 1 | name |
| 152123885 | CV1563954 | single nucleotide variant | NM_001257180.2(SLC20A2):c.954C>G (p.Thr318=) | not provided [RCV002175938] | likely benign | 8 | 42437558 | 42437558 | Human | | name |
| 152150447 | CV1625767 | single nucleotide variant | NM_001257180.2(SLC20A2):c.666C>T (p.Val222=) | not provided [RCV002139433] | likely benign | 8 | 42444710 | 42444710 | Human | | name |
| 152104613 | CV1633808 | single nucleotide variant | NM_001257180.2(SLC20A2):c.561T>C (p.Tyr187=) | not provided [RCV002195988] | likely benign | 8 | 42459948 | 42459948 | Human | | name |
| 156221976 | CV1899853 | single nucleotide variant | NM_001257180.2(SLC20A2):c.987C>T (p.Gly329=) | not provided [RCV003085033] | benign | 8 | 42437525 | 42437525 | Human | | name |
| 156349818 | CV1978195 | single nucleotide variant | NM_001257180.2(SLC20A2):c.715C>A (p.Arg239=) | not provided [RCV002601741] | likely benign | 8 | 42444661 | 42444661 | Human | | name |
| 243053199 | CV2404520 | single nucleotide variant | NM_001257180.2(SLC20A2):c.73G>C (p.Gly25Arg) | not provided [RCV003129547] | uncertain significance | 8 | 42472318 | 42472318 | Human | | name |
| 11598752 | CV305361 | single nucleotide variant | NM_001257180.2(SLC20A2):c.909G>A (p.Ala303=) | Idiopathic basal ganglia calcification 1 [RCV005420180]|not provided [RCV000894258] | benign|likely benign|conflicting interpretations of pathogenicity | 8 | 42439475 | 42439475 | Human | 1 | name |
| 11607101 | CV305364 | single nucleotide variant | NM_001257180.2(SLC20A2):c.834G>A (p.Lys278=) | Idiopathic basal ganglia calcification 1 [RCV005420184] | uncertain significance | 8 | 42439550 | 42439550 | Human | 1 | name |
| 11602886 | CV305374 | single nucleotide variant | NM_001257180.2(SLC20A2):c.345G>A (p.Thr115=) | Idiopathic basal ganglia calcification 1 [RCV005420189]|not provided [RCV000860821]|not specified [RCV001579528] | benign|likely benign | 8 | 42465862 | 42465862 | Human | 1 | name |
| 11607477 | CV309184 | single nucleotide variant | NM_001257180.2(SLC20A2):c.678C>T (p.Phe226=) | Idiopathic basal ganglia calcification 1 [RCV005420187]|not provided [RCV000912396] | likely benign | 8 | 42444698 | 42444698 | Human | 1 | name |
| 405155545 | CV3135205 | single nucleotide variant | NM_001257180.2(SLC20A2):c.345G>T (p.Thr115=) | not provided [RCV003840317] | likely benign | 8 | 42465862 | 42465862 | Human | | name |
| 11605306 | CV314450 | single nucleotide variant | NM_001257180.2(SLC20A2):c.933C>T (p.Tyr311=) | Idiopathic basal ganglia calcification 1 [RCV005420178]|not provided [RCV000860804] | benign|likely benign | 8 | 42439451 | 42439451 | Human | 1 | name |
| 11605809 | CV314453 | single nucleotide variant | NM_001257180.2(SLC20A2):c.883C>T (p.Leu295=) | Idiopathic basal ganglia calcification 1 [RCV005420181]|not provided [RCV002524566] | likely benign|uncertain significance | 8 | 42439501 | 42439501 | Human | 1 | name |
| 11610244 | CV314469 | single nucleotide variant | NM_001257180.2(SLC20A2):c.849C>T (p.Ser283=) | Idiopathic basal ganglia calcification 1 [RCV005420182]|not provided [RCV000899040] | benign|likely benign | 8 | 42439535 | 42439535 | Human | 1 | name |
| 11601671 | CV314477 | single nucleotide variant | NM_001257180.2(SLC20A2):c.846C>T (p.Asp282=) | Idiopathic basal ganglia calcification 1 [RCV005420183]|not provided [RCV000593584] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 8 | 42439538 | 42439538 | Human | 1 | name |
| 596923503 | CV3530456 | single nucleotide variant | NM_001257180.2(SLC20A2):c.97T>C (p.Phe33Leu) | not provided [RCV004777055] | uncertain significance | 8 | 42472294 | 42472294 | Human | | name |
| 12742119 | CV359854 | single nucleotide variant | NM_001257180.2(SLC20A2):c.82G>A (p.Asp28Asn) | SLC20A2-related disorder [RCV003409577]|not provided [RCV000412914] | pathogenic|likely pathogenic | 8 | 42472309 | 42472309 | Human | 1 | name , trait , alternate_id |
| 597836357 | CV3739853 | single nucleotide variant | NM_001257180.2(SLC20A2):c.858G>A (p.Pro286=) | not provided [RCV005064073] | likely benign | 8 | 42439526 | 42439526 | Human | | name |
| 597934700 | CV3750522 | single nucleotide variant | NM_001257180.2(SLC20A2):c.585C>A (p.Val195=) | not provided [RCV005076447] | likely benign | 8 | 42459924 | 42459924 | Human | | name |
| 597922821 | CV3777796 | single nucleotide variant | NM_001257180.2(SLC20A2):c.74G>C (p.Gly25Ala) | not provided [RCV005130520] | uncertain significance | 8 | 42472317 | 42472317 | Human | | name |
| 597959725 | CV3797630 | single nucleotide variant | NM_001257180.2(SLC20A2):c.38G>T (p.Gly13Val) | not provided [RCV005138317] | uncertain significance | 8 | 42472353 | 42472353 | Human | | name |
| 598122656 | CV3884588 | single nucleotide variant | NM_001257180.2(SLC20A2):c.723A>G (p.Lys241=) | not specified [RCV005237280] | likely benign | 8 | 42444653 | 42444653 | Human | | name |
| 616934998 | CV4009225 | single nucleotide variant | NM_001257180.2(SLC20A2):c.85G>C (p.Val29Leu) | not provided [RCV005402397] | uncertain significance | 8 | 42472306 | 42472306 | Human | | name |
| 15139549 | CV736679 | single nucleotide variant | NM_001257180.2(SLC20A2):c.708G>A (p.Pro236=) | not provided [RCV000899164] | likely benign | 8 | 42444668 | 42444668 | Human | | name |
| 15188461 | CV736680 | single nucleotide variant | NM_001257180.2(SLC20A2):c.687T>C (p.Phe229=) | SLC20A2-related disorder [RCV003968368]|not provided [RCV000909375] | likely benign | 8 | 42444689 | 42444689 | Human | 1 | name , trait , alternate_id |
| 15158219 | CV751170 | single nucleotide variant | NM_001257180.2(SLC20A2):c.618C>T (p.Leu206=) | not provided [RCV000925024] | likely benign | 8 | 42444758 | 42444758 | Human | | name |
| 15118656 | CV766825 | single nucleotide variant | NM_001257180.2(SLC20A2):c.765A>G (p.Val255=) | not provided [RCV000940049] | likely benign | 8 | 42439619 | 42439619 | Human | | name |
| 15110145 | CV783112 | single nucleotide variant | NM_001257180.2(SLC20A2):c.741A>G (p.Gln247=) | not provided [RCV000977377] | likely benign | 8 | 42439643 | 42439643 | Human | | name |
| 150549984 | CV1299764 | single nucleotide variant | NM_001257180.2(SLC20A2):c.136C>G (p.Gln46Glu) | not provided [RCV001752690] | uncertain significance | 8 | 42472255 | 42472255 | Human | | name |
| 150554479 | CV1304180 | single nucleotide variant | NM_001257180.2(SLC20A2):c.176C>T (p.Ser59Phe) | not provided [RCV001771150] | uncertain significance | 8 | 42472215 | 42472215 | Human | | name |
| 151350127 | CV1324604 | single nucleotide variant | NM_001257180.2(SLC20A2):c.218G>T (p.Gly73Val) | Idiopathic basal ganglia calcification 1 [RCV005420415] | uncertain significance | 8 | 42472173 | 42472173 | Human | 1 | name |
| 151718902 | CV1419841 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1872G>A (p.Val624=) | not provided [RCV001965657] | likely benign|uncertain significance | 8 | 42417890 | 42417890 | Human | | name |
| 151872433 | CV1480666 | single nucleotide variant | NM_001257180.2(SLC20A2):c.212G>A (p.Arg71His) | not provided [RCV001906662] | uncertain significance | 8 | 42472179 | 42472179 | Human | | name |
| 151742025 | CV1492631 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1710C>T (p.Ser570=) | not provided [RCV002042323] | uncertain significance | 8 | 42428842 | 42428842 | Human | | name |
| 152031896 | CV1624548 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1203C>T (p.Thr401=) | not provided [RCV002186795] | likely benign | 8 | 42437309 | 42437309 | Human | | name |
| 153303723 | CV1690440 | single nucleotide variant | NM_001257180.2(SLC20A2):c.295G>A (p.Ala99Thr) | Inborn genetic diseases [RCV004047468]|not provided [RCV002269484]|not specified [RCV003491065] | uncertain significance | 8 | 42465912 | 42465912 | Human | 1 | name |
| 155796341 | CV1861797 | deletion | NM_001257180.2(SLC20A2):c.852del (p.Ile285fs) | Idiopathic basal ganglia calcification 1 [RCV005420433]|SLC20A2-related disorder [RCV003427487]|not provided [RCV002571447] | pathogenic|likely pathogenic | 8 | 42439532 | 42439532 | Human | 1 | name , trait , alternate_id |
| 156056460 | CV1879619 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1641C>T (p.Gly547=) | not provided [RCV003053182] | likely benign | 8 | 42430132 | 42430132 | Human | | name |
| 156207530 | CV1906032 | single nucleotide variant | NM_001257180.2(SLC20A2):c.178G>A (p.Val60Met) | Inborn genetic diseases [RCV004073140]|not provided [RCV003084462] | uncertain significance | 8 | 42472213 | 42472213 | Human | 1 | name |
| 156120933 | CV2039860 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1017C>T (p.Ser339=) | not provided [RCV002785788] | likely benign | 8 | 42437495 | 42437495 | Human | | name |
| 155994792 | CV2122505 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1242G>A (p.Glu414=) | SLC20A2-related disorder [RCV003973586]|not provided [RCV002974898] | likely benign | 8 | 42437270 | 42437270 | Human | 1 | name , trait , alternate_id |
| 156044999 | CV2157677 | duplication | NM_001257180.2(SLC20A2):c.687dup (p.Val230fs) | not provided [RCV003019201] | pathogenic | 8 | 42444688 | 42444689 | Human | | name |
| 156434269 | CV2401943 | single nucleotide variant | NM_001257180.2(SLC20A2):c.185T>C (p.Leu62Pro) | Idiopathic basal ganglia calcification 1 [RCV005420437] | pathogenic | 8 | 42472206 | 42472206 | Human | 1 | name |
| 156451089 | CV2402466 | single nucleotide variant | NM_001257180.2(SLC20A2):c.211C>T (p.Arg71Cys) | not provided [RCV003123267] | uncertain significance | 8 | 42472180 | 42472180 | Human | | name |
| 329954903 | CV2670835 | single nucleotide variant | NM_001257180.2(SLC20A2):c.172G>A (p.Gly58Ser) | not provided [RCV003236103] | uncertain significance | 8 | 42472219 | 42472219 | Human | | name |
| 11580720 | CV269079 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1812C>T (p.Ala604=) | Idiopathic basal ganglia calcification 1 [RCV005419949]|not provided [RCV000861358]|not specified [RCV000381374] | benign|likely benign | 8 | 42417950 | 42417950 | Human | 1 | name |
| 402520764 | CV2871092 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1194G>A (p.Val398=) | not provided [RCV003547680] | likely benign | 8 | 42437318 | 42437318 | Human | | name |
| 11601996 | CV305340 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1911C>T (p.Ser637=) | Idiopathic basal ganglia calcification 1 [RCV005420167]|not provided [RCV002058734] | benign|likely benign | 8 | 42417851 | 42417851 | Human | 1 | name |
| 11607633 | CV305342 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1572C>T (p.Gly524=) | Idiopathic basal ganglia calcification 1 [RCV005420170]|not provided [RCV000911909] | likely benign | 8 | 42430201 | 42430201 | Human | 1 | name |
| 405030486 | CV3077416 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1215G>T (p.Ala405=) | not provided [RCV003739108] | likely benign | 8 | 42437297 | 42437297 | Human | | name |
| 11611904 | CV309169 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1803G>A (p.Ser601=) | Idiopathic basal ganglia calcification 1 [RCV005420168] | uncertain significance | 8 | 42417959 | 42417959 | Human | 1 | name |
| 11599130 | CV309174 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1008C>T (p.His336=) | Idiopathic basal ganglia calcification 1 [RCV005420177]|SLC20A2-related disorder [RCV003972531]|not provided [RCV001618662] | benign|likely benign|conflicting interpretations of pathogenicity | 8 | 42437504 | 42437504 | Human | 1 | name , trait , alternate_id |
| 405211977 | CV3142603 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1656G>A (p.Gly552=) | not provided [RCV003845960] | likely benign | 8 | 42430117 | 42430117 | Human | | name |
| 11609621 | CV314442 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1254C>T (p.Gly418=) | Idiopathic basal ganglia calcification 1 [RCV005420173]|SLC20A2-related disorder [RCV003912555]|not provided [RCV000860884] | benign|likely benign|conflicting interpretations of pathogenicity | 8 | 42437258 | 42437258 | Human | 1 | name , trait , alternate_id |
| 11600694 | CV314444 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1134G>T (p.Arg378=) | Idiopathic basal ganglia calcification 1 [RCV005420174]|not provided [RCV000975185] | benign|likely benign | 8 | 42437378 | 42437378 | Human | 1 | name |
| 11609322 | CV314465 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1011C>A (p.Thr337=) | Idiopathic basal ganglia calcification 1 [RCV005420176]|SLC20A2-related disorder [RCV003912556]|not provided [RCV000860885] | benign|likely benign|conflicting interpretations of pathogenicity | 8 | 42437501 | 42437501 | Human | 1 | name , trait , alternate_id |
| 405179033 | CV3147334 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1950A>G (p.Pro650=) | not provided [RCV003842236] | uncertain significance | 8 | 42417812 | 42417812 | Human | | name |
| 405238887 | CV3165792 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1407C>T (p.Asp469=) | not provided [RCV003866804] | likely benign | 8 | 42437105 | 42437105 | Human | | name |
| 405261895 | CV3194321 | single nucleotide variant | NM_001257180.2(SLC20A2):c.176C>A (p.Ser59Tyr) | SLC20A2-related disorder [RCV003896354] | uncertain significance | 8 | 42472215 | 42472215 | Human | | name , trait , alternate_id |
| 407573503 | CV3499305 | deletion | NM_001257180.2(SLC20A2):c.649del (p.Leu217fs) | Idiopathic basal ganglia calcification 1 [RCV005420455] | pathogenic | 8 | 42444727 | 42444727 | Human | 1 | name |
| 597709499 | CV3596426 | single nucleotide variant | NM_001257180.2(SLC20A2):c.262A>G (p.Met88Val) | Inborn genetic diseases [RCV004957881] | uncertain significance | 8 | 42472129 | 42472129 | Human | 1 | name |
| 597945646 | CV3755409 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1482C>T (p.Thr494=) | not provided [RCV005078418] | likely benign | 8 | 42437030 | 42437030 | Human | | name |
| 597831692 | CV3759786 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1137G>A (p.Leu379=) | not provided [RCV005084724] | likely benign | 8 | 42437375 | 42437375 | Human | | name |
| 597875174 | CV3766173 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1293C>T (p.Asp431=) | not provided [RCV005108305] | likely benign | 8 | 42437219 | 42437219 | Human | | name |
| 597968672 | CV3791028 | single nucleotide variant | NM_001257180.2(SLC20A2):c.109G>A (p.Val37Met) | not provided [RCV005141060] | uncertain significance | 8 | 42472282 | 42472282 | Human | | name |
| 597863634 | CV3814055 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1215G>A (p.Ala405=) | not provided [RCV005147124] | likely benign | 8 | 42437297 | 42437297 | Human | | name |
| 597877255 | CV3825761 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1263G>A (p.Val421=) | not provided [RCV005177635] | likely benign | 8 | 42437249 | 42437249 | Human | | name |
| 598159687 | CV3897139 | single nucleotide variant | NM_001257180.2(SLC20A2):c.229G>A (p.Val77Met) | not provided [RCV005368113] | uncertain significance | 8 | 42472162 | 42472162 | Human | | name |
| 598269255 | CV3921810 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1606C>T (p.Leu536=) | Inborn genetic diseases [RCV005281930] | likely benign | 8 | 42430167 | 42430167 | Human | 1 | name |
| 13489590 | CV444285 | duplication | NM_001257180.2(SLC20A2):c.458dup (p.Leu153fs) | not provided [RCV000523937] | pathogenic | 8 | 42463062 | 42463063 | Human | | name |
| 13592713 | CV513427 | single nucleotide variant | NM_001257180.2(SLC20A2):c.136C>T (p.Gln46Ter) | Idiopathic basal ganglia calcification 1 [RCV005420219]|not provided [RCV002272308] | pathogenic | 8 | 42472255 | 42472255 | Human | 1 | name |
| 14696196 | CV622731 | deletion | NM_001257180.2(SLC20A2):c.303del (p.Trp101fs) | Idiopathic basal ganglia calcification 1 [RCV005420244] | likely pathogenic | 8 | 42465904 | 42465904 | Human | 1 | name |
| 14695588 | CV622732 | single nucleotide variant | NM_001257180.2(SLC20A2):c.188G>A (p.Gly63Asp) | Idiopathic basal ganglia calcification 1 [RCV005420240] | likely pathogenic | 8 | 42472203 | 42472203 | Human | 1 | name |
| 14695589 | CV622733 | single nucleotide variant | NM_001257180.2(SLC20A2):c.187G>A (p.Gly63Ser) | Idiopathic basal ganglia calcification 1 [RCV005420241]|not provided [RCV003558588] | likely pathogenic|uncertain significance | 8 | 42472204 | 42472204 | Human | 1 | name |
| 14726358 | CV637217 | single nucleotide variant | NM_001257180.2(SLC20A2):c.104C>A (p.Thr35Lys) | not provided [RCV000799171] | uncertain significance | 8 | 42472287 | 42472287 | Human | | name |
| 15179296 | CV736676 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1518C>T (p.Asp506=) | not provided [RCV000907075] | likely benign | 8 | 42436994 | 42436994 | Human | | name |
| 15114281 | CV736677 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1282C>T (p.Leu428=) | Idiopathic basal ganglia calcification 1 [RCV005420260]|not provided [RCV000894827] | benign|likely benign | 8 | 42437230 | 42437230 | Human | 1 | name |
| 15193631 | CV751169 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1704G>A (p.Pro568=) | not provided [RCV000910895] | likely benign | 8 | 42430069 | 42430069 | Human | | name |
| 15103226 | CV783111 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1869C>T (p.Phe623=) | not provided [RCV000975974] | likely benign | 8 | 42417893 | 42417893 | Human | | name |
| 8633015 | CV88229 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1530C>T (p.Ala510=) | not provided [RCV005144030] | likely benign|not provided | 8 | 42430243 | 42430243 | Human | | name |
| 28908801 | CV899614 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1701G>A (p.Thr567=) | Idiopathic basal ganglia calcification 1 [RCV005420352]|SLC20A2-related disorder [RCV003953544]|not provided [RCV002558517] | likely benign | 8 | 42430072 | 42430072 | Human | 1 | name , trait , alternate_id |
| 28870741 | CV899618 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1197C>T (p.His399=) | Idiopathic basal ganglia calcification 1 [RCV005420366] | uncertain significance | 8 | 42437315 | 42437315 | Human | 1 | name |
| 28870744 | CV899619 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1101C>G (p.Pro367=) | Idiopathic basal ganglia calcification 1 [RCV005420367]|SLC20A2-related disorder [RCV003938536]|not provided [RCV002067989] | benign|likely benign | 8 | 42437411 | 42437411 | Human | 1 | name , trait , alternate_id |
| 28908997 | CV899622 | single nucleotide variant | NM_001257180.2(SLC20A2):c.119G>A (p.Gly40Asp) | Idiopathic basal ganglia calcification 1 [RCV005420355] | uncertain significance | 8 | 42472272 | 42472272 | Human | 1 | name |
| 8647080 | CV106716 | single nucleotide variant | NM_001257180.2(SLC20A2):c.353T>C (p.Ile118Thr) | not provided [RCV000087218] | uncertain significance | 8 | 42465854 | 42465854 | Human | | name |
| 150406678 | CV1199971 | single nucleotide variant | NM_001257180.2(SLC20A2):c.542G>A (p.Arg181Gln) | Idiopathic basal ganglia calcification 1 [RCV005420407]|Inborn genetic diseases [RCV004039459]|not provided [RCV001579452] | uncertain significance | 8 | 42459967 | 42459967 | Human | 2 | name |
| 151857399 | CV1347374 | single nucleotide variant | NM_001257180.2(SLC20A2):c.596T>C (p.Met199Thr) | not provided [RCV002033943] | uncertain significance | 8 | 42459913 | 42459913 | Human | | name |
| 151747375 | CV1352926 | single nucleotide variant | NM_001257180.2(SLC20A2):c.635T>C (p.Met212Thr) | not provided [RCV001912587] | uncertain significance | 8 | 42444741 | 42444741 | Human | | name |
| 151789513 | CV1396975 | single nucleotide variant | NM_001257180.2(SLC20A2):c.592A>G (p.Ile198Val) | not provided [RCV001951912] | uncertain significance | 8 | 42459917 | 42459917 | Human | | name |
| 151835322 | CV1420198 | single nucleotide variant | NM_001257180.2(SLC20A2):c.763G>A (p.Val255Ile) | Inborn genetic diseases [RCV003170421]|not provided [RCV001977076] | uncertain significance | 8 | 42439621 | 42439621 | Human | 1 | name |
| 151762272 | CV1423725 | single nucleotide variant | NM_001257180.2(SLC20A2):c.902C>T (p.Thr301Ile) | not provided [RCV002008013] | uncertain significance | 8 | 42439482 | 42439482 | Human | | name |
| 151800589 | CV1474864 | single nucleotide variant | NM_001257180.2(SLC20A2):c.777C>G (p.Ser259Arg) | Inborn genetic diseases [RCV003170062]|not provided [RCV001952886] | uncertain significance | 8 | 42439607 | 42439607 | Human | 1 | name |
| 151815869 | CV1475842 | single nucleotide variant | NM_001257180.2(SLC20A2):c.962C>T (p.Ser321Phe) | not provided [RCV001992280] | uncertain significance | 8 | 42437550 | 42437550 | Human | | name |
| 151863767 | CV1498611 | single nucleotide variant | NM_001257180.2(SLC20A2):c.619G>A (p.Gly207Ser) | Inborn genetic diseases [RCV002608026]|not provided [RCV001980467] | uncertain significance | 8 | 42444757 | 42444757 | Human | 1 | name |
| 151799080 | CV1504013 | single nucleotide variant | NM_001257180.2(SLC20A2):c.871G>C (p.Ala291Pro) | not provided [RCV001973740] | uncertain significance | 8 | 42439513 | 42439513 | Human | | name |
| 151888841 | CV1509263 | single nucleotide variant | NM_001257180.2(SLC20A2):c.908C>T (p.Ala303Val) | not provided [RCV001888052] | uncertain significance | 8 | 42439476 | 42439476 | Human | | name |
| 153000721 | CV1684287 | deletion | NM_001257180.2(SLC20A2):c.80_92del (p.Asn27fs) | Idiopathic basal ganglia calcification 1 [RCV005420422] | pathogenic | 8 | 42472299 | 42472311 | Human | 1 | name |
| 153301647 | CV1685813 | single nucleotide variant | NM_001257180.2(SLC20A2):c.638G>C (p.Trp213Ser) | not provided [RCV002260790] | uncertain significance | 8 | 42444738 | 42444738 | Human | | name |
| 155642318 | CV1707328 | single nucleotide variant | NM_001257180.2(SLC20A2):c.601A>G (p.Thr201Ala) | Idiopathic basal ganglia calcification 1 [RCV005420427] | uncertain significance | 8 | 42459908 | 42459908 | Human | 1 | name |
| 155798954 | CV1859358 | single nucleotide variant | NM_001257180.2(SLC20A2):c.344C>A (p.Thr115Lys) | Idiopathic basal ganglia calcification 1 [RCV005420432] | pathogenic|likely pathogenic | 8 | 42465863 | 42465863 | Human | 1 | name |
| 155798548 | CV1860698 | single nucleotide variant | NM_001257180.2(SLC20A2):c.452C>A (p.Pro151Gln) | not provided [RCV002467341] | uncertain significance | 8 | 42463069 | 42463069 | Human | | name |
| 156363637 | CV1901482 | single nucleotide variant | NM_001257180.2(SLC20A2):c.575C>T (p.Ala192Val) | not provided [RCV002602669] | uncertain significance | 8 | 42459934 | 42459934 | Human | | name |
| 156379905 | CV1903481 | single nucleotide variant | NM_001257180.2(SLC20A2):c.613G>A (p.Val205Met) | not provided [RCV003093188] | uncertain significance | 8 | 42459896 | 42459896 | Human | | name |
| 156375197 | CV1960105 | single nucleotide variant | NM_001257180.2(SLC20A2):c.919C>T (p.Pro307Ser) | not provided [RCV002582742] | uncertain significance | 8 | 42439465 | 42439465 | Human | | name |
| 156311288 | CV2133304 | single nucleotide variant | NM_001257180.2(SLC20A2):c.644T>C (p.Ile215Thr) | not provided [RCV003011126] | uncertain significance | 8 | 42444732 | 42444732 | Human | | name |
| 156205971 | CV2160121 | single nucleotide variant | NM_001257180.2(SLC20A2):c.796G>A (p.Ala266Thr) | not provided [RCV003042150] | uncertain significance | 8 | 42439588 | 42439588 | Human | | name |
| 156244381 | CV2283344 | single nucleotide variant | NM_001257180.2(SLC20A2):c.892T>C (p.Ser298Pro) | Inborn genetic diseases [RCV002854441]|not provided [RCV005099740] | benign|uncertain significance | 8 | 42439492 | 42439492 | Human | 1 | name |
| 156250718 | CV2286747 | single nucleotide variant | NM_001257180.2(SLC20A2):c.944T>C (p.Leu315Pro) | Inborn genetic diseases [RCV002854817] | uncertain significance | 8 | 42437568 | 42437568 | Human | 1 | name |
| 156074338 | CV2331651 | single nucleotide variant | NM_001257180.2(SLC20A2):c.716G>A (p.Arg239Gln) | Inborn genetic diseases [RCV002951422] | uncertain significance | 8 | 42444660 | 42444660 | Human | 1 | name |
| 329388450 | CV2471938 | single nucleotide variant | NM_001257180.2(SLC20A2):c.385G>A (p.Ala129Thr) | Inborn genetic diseases [RCV003215774] | uncertain significance | 8 | 42465822 | 42465822 | Human | 1 | name |
| 11632645 | CV264362 | single nucleotide variant | NM_001257180.2(SLC20A2):c.971C>A (p.Ser324Ter) | not provided [RCV000273016] | pathogenic | 8 | 42437541 | 42437541 | Human | | name |
| 11633338 | CV264390 | single nucleotide variant | NM_001257180.2(SLC20A2):c.338C>G (p.Ser113Ter) | not provided [RCV000330173] | pathogenic | 8 | 42465869 | 42465869 | Human | | name |
| 329954062 | CV2669393 | single nucleotide variant | NM_001257180.2(SLC20A2):c.835G>A (p.Ala279Thr) | not provided [RCV003231901] | uncertain significance | 8 | 42439549 | 42439549 | Human | | name |
| 401796617 | CV2740787 | deletion | NM_001257180.2(SLC20A2):c.58_62del (p.Ala21fs) | Idiopathic basal ganglia calcification 1 [RCV005420444] | pathogenic | 8 | 42472329 | 42472333 | Human | 1 | name |
| 401797191 | CV2741974 | single nucleotide variant | NM_001257180.2(SLC20A2):c.811T>C (p.Phe271Leu) | not specified [RCV003324150] | uncertain significance | 8 | 42439573 | 42439573 | Human | | name |
| 401913115 | CV2830206 | single nucleotide variant | NM_001257180.2(SLC20A2):c.707C>T (p.Pro236Leu) | not provided [RCV003441421] | uncertain significance | 8 | 42444669 | 42444669 | Human | | name |
| 405240954 | CV2905072 | single nucleotide variant | NM_001257180.2(SLC20A2):c.344C>T (p.Thr115Met) | SLC20A2-related disorder [RCV003901186]|not provided [RCV003557396] | pathogenic | 8 | 42465863 | 42465863 | Human | 1 | name , trait , alternate_id |
| 405146040 | CV2949959 | single nucleotide variant | NM_001257180.2(SLC20A2):c.693G>C (p.Trp231Cys) | not provided [RCV003669676] | uncertain significance | 8 | 42444683 | 42444683 | Human | | name |
| 404981425 | CV3006436 | single nucleotide variant | NM_001257180.2(SLC20A2):c.711G>C (p.Trp237Cys) | not provided [RCV003691293] | uncertain significance | 8 | 42444665 | 42444665 | Human | | name |
| 405002361 | CV3016146 | single nucleotide variant | NM_001257180.2(SLC20A2):c.486T>G (p.Phe162Leu) | not provided [RCV003693300] | uncertain significance | 8 | 42463035 | 42463035 | Human | | name |
| 11610654 | CV305369 | single nucleotide variant | NM_001257180.2(SLC20A2):c.787G>A (p.Val263Ile) | Idiopathic basal ganglia calcification 1 [RCV005420185] | benign|likely benign | 8 | 42439597 | 42439597 | Human | 1 | name |
| 11609822 | CV309182 | single nucleotide variant | NM_001257180.2(SLC20A2):c.910G>A (p.Gly304Ser) | Idiopathic basal ganglia calcification 1 [RCV005420179]|not provided [RCV001522227]|not specified [RCV001580040] | benign | 8 | 42439474 | 42439474 | Human | 1 | name |
| 11611767 | CV309187 | single nucleotide variant | NM_001257180.2(SLC20A2):c.553G>C (p.Val185Leu) | Idiopathic basal ganglia calcification 1 [RCV005420188]|Inborn genetic diseases [RCV004022073] | likely benign|uncertain significance | 8 | 42459956 | 42459956 | Human | 2 | name |
| 405209287 | CV3117235 | single nucleotide variant | NM_001257180.2(SLC20A2):c.640G>C (p.Ala214Pro) | not provided [RCV003823022] | likely benign | 8 | 42444736 | 42444736 | Human | | name |
| 405092638 | CV3134575 | single nucleotide variant | NM_001257180.2(SLC20A2):c.929C>T (p.Ala310Val) | not provided [RCV003834921] | uncertain significance | 8 | 42439455 | 42439455 | Human | | name |
| 11602490 | CV314478 | single nucleotide variant | NM_001257180.2(SLC20A2):c.761G>A (p.Arg254Gln) | Idiopathic basal ganglia calcification 1 [RCV005420186]|SLC20A2-related disorder [RCV003902418]|not provided [RCV000861434] | benign|likely benign | 8 | 42439623 | 42439623 | Human | 1 | name , trait , alternate_id |
| 405712550 | CV3325146 | single nucleotide variant | NM_001257180.2(SLC20A2):c.391G>C (p.Gly131Arg) | Inborn genetic diseases [RCV004448693] | uncertain significance | 8 | 42465816 | 42465816 | Human | 1 | name |
| 405712556 | CV3325147 | single nucleotide variant | NM_001257180.2(SLC20A2):c.411G>A (p.Trp137Ter) | Inborn genetic diseases [RCV004448694] | pathogenic | 8 | 42465796 | 42465796 | Human | 1 | name |
| 405712561 | CV3325148 | single nucleotide variant | NM_001257180.2(SLC20A2):c.923G>A (p.Arg308Gln) | Inborn genetic diseases [RCV004448695] | uncertain significance | 8 | 42439461 | 42439461 | Human | 1 | name |
| 407427154 | CV3410491 | single nucleotide variant | NM_001257180.2(SLC20A2):c.581A>G (p.Asn194Ser) | not specified [RCV004586138] | uncertain significance | 8 | 42459928 | 42459928 | Human | | name |
| 407574118 | CV3498467 | single nucleotide variant | NM_001257180.2(SLC20A2):c.993C>A (p.Phe331Leu) | not specified [RCV004702942] | uncertain significance | 8 | 42437519 | 42437519 | Human | | name |
| 408387025 | CV3518659 | single nucleotide variant | NM_001257180.2(SLC20A2):c.958G>A (p.Gly320Ser) | not provided [RCV004760978] | uncertain significance | 8 | 42437554 | 42437554 | Human | | name |
| 596922730 | CV3530070 | single nucleotide variant | NM_001257180.2(SLC20A2):c.838A>G (p.Asn280Asp) | not provided [RCV004776669] | uncertain significance | 8 | 42439546 | 42439546 | Human | | name |
| 596931335 | CV3531671 | single nucleotide variant | NM_001257180.2(SLC20A2):c.962C>A (p.Ser321Tyr) | not provided [RCV004781233] | uncertain significance | 8 | 42437550 | 42437550 | Human | | name |
| 596927332 | CV3532562 | single nucleotide variant | NM_001257180.2(SLC20A2):c.623T>A (p.Leu208His) | not provided [RCV004778660] | uncertain significance | 8 | 42444753 | 42444753 | Human | | name |
| 596938510 | CV3549586 | single nucleotide variant | NM_001257180.2(SLC20A2):c.608C>T (p.Ala203Val) | not provided [RCV004812626] | uncertain significance | 8 | 42459901 | 42459901 | Human | | name |
| 597709503 | CV3596427 | single nucleotide variant | NM_001257180.2(SLC20A2):c.863C>G (p.Thr288Arg) | Inborn genetic diseases [RCV004957882] | uncertain significance | 8 | 42439521 | 42439521 | Human | 1 | name |
| 597709678 | CV3596430 | single nucleotide variant | NM_001257180.2(SLC20A2):c.797C>A (p.Ala266Glu) | Inborn genetic diseases [RCV004957885] | uncertain significance | 8 | 42439587 | 42439587 | Human | 1 | name |
| 597656960 | CV3731628 | single nucleotide variant | NM_001257180.2(SLC20A2):c.730G>C (p.Gly244Arg) | not provided [RCV005001809] | uncertain significance | 8 | 42444646 | 42444646 | Human | | name |
| 597879127 | CV3744479 | single nucleotide variant | NM_001257180.2(SLC20A2):c.857C>T (p.Pro286Leu) | not provided [RCV005069693] | uncertain significance | 8 | 42439527 | 42439527 | Human | | name |
| 597855672 | CV3747953 | single nucleotide variant | NM_001257180.2(SLC20A2):c.893C>T (p.Ser298Leu) | not provided [RCV005066774] | uncertain significance | 8 | 42439491 | 42439491 | Human | | name |
| 597885259 | CV3835035 | single nucleotide variant | NM_001257180.2(SLC20A2):c.533A>T (p.Asn178Ile) | not provided [RCV005178759] | uncertain significance | 8 | 42459976 | 42459976 | Human | | name |
| 597859760 | CV3850228 | duplication | NM_001257180.2(SLC20A2):c.1303dup (p.Ser435fs) | not provided [RCV005195561] | pathogenic | 8 | 42437208 | 42437209 | Human | | name |
| 597918614 | CV3861572 | single nucleotide variant | NM_001257180.2(SLC20A2):c.410G>A (p.Trp137Ter) | not provided [RCV005204728] | pathogenic | 8 | 42465797 | 42465797 | Human | | name |
| 598235172 | CV3893566 | single nucleotide variant | NM_001257180.2(SLC20A2):c.881C>T (p.Thr294Ile) | not provided [RCV005256299] | uncertain significance | 8 | 42439503 | 42439503 | Human | | name |
| 598269248 | CV3921808 | single nucleotide variant | NM_001257180.2(SLC20A2):c.715C>T (p.Arg239Trp) | Inborn genetic diseases [RCV005281928] | uncertain significance | 8 | 42444661 | 42444661 | Human | 1 | name |
| 598269274 | CV3921813 | single nucleotide variant | NM_001257180.2(SLC20A2):c.700G>C (p.Val234Leu) | Inborn genetic diseases [RCV005281933] | uncertain significance | 8 | 42444676 | 42444676 | Human | 1 | name |
| 617150022 | CV4017225 | single nucleotide variant | NM_001257180.2(SLC20A2):c.610C>T (p.Pro204Ser) | not provided [RCV005416882] | uncertain significance | 8 | 42459899 | 42459899 | Human | | name |
| 12899276 | CV407391 | single nucleotide variant | NM_001257180.2(SLC20A2):c.394A>G (p.Thr132Ala) | not provided [RCV000479835] | uncertain significance | 8 | 42465813 | 42465813 | Human | | name |
| 13531863 | CV511755 | duplication | NM_001257180.2(SLC20A2):c.51_54dup (p.Ile19fs) | Inborn genetic diseases [RCV000623704] | pathogenic | 8 | 42472336 | 42472337 | Human | 1 | name |
| 15194276 | CV751171 | single nucleotide variant | NM_001257180.2(SLC20A2):c.533A>G (p.Asn178Ser) | Inborn genetic diseases [RCV002540820]|not provided [RCV000911078] | likely benign|uncertain significance | 8 | 42459976 | 42459976 | Human | 1 | name |
| 25317422 | CV805576 | single nucleotide variant | NM_001257180.2(SLC20A2):c.458T>A (p.Leu153Ter) | not provided [RCV001008017] | likely pathogenic | 8 | 42463063 | 42463063 | Human | | name |
| 26892543 | CV834767 | single nucleotide variant | NM_001257180.2(SLC20A2):c.857C>G (p.Pro286Arg) | Idiopathic basal ganglia calcification 1 [RCV005420279]|Inborn genetic diseases [RCV003283943]|not provided [RCV001061920] | uncertain significance | 8 | 42439527 | 42439527 | Human | 2 | name |
| 28884716 | CV859668 | single nucleotide variant | NM_001257180.2(SLC20A2):c.436T>C (p.Ser146Pro) | SLC20A2-related disorder [RCV004753206]|not provided [RCV001091602] | uncertain significance | 8 | 42463085 | 42463085 | Human | 1 | name , trait , alternate_id |
| 8630964 | CV86120 | deletion | NM_006749.4(SLC20A2):c.508delT (p.Leu170Terfs) | Fahr's syndrome [RCV000066204]|Idiopathic basal ganglia calcification 1 [RCV000066204] | pathogenic | 8 | 42463013 | 42463013 | Human | | name |
| 28871433 | CV899620 | single nucleotide variant | NM_001257180.2(SLC20A2):c.971C>T (p.Ser324Leu) | Idiopathic basal ganglia calcification 1 [RCV005420370]|not provided [RCV002558581] | uncertain significance | 8 | 42437541 | 42437541 | Human | 1 | name |
| 28906564 | CV899621 | single nucleotide variant | NM_001257180.2(SLC20A2):c.679G>A (p.Ala227Thr) | Idiopathic basal ganglia calcification 1 [RCV005420351]|not provided [RCV003737006] | uncertain significance | 8 | 42444697 | 42444697 | Human | 1 | name |
| 38457217 | CV919154 | single nucleotide variant | NM_001257180.2(SLC20A2):c.568A>G (p.Thr190Ala) | Idiopathic basal ganglia calcification 1 [RCV005420379] | uncertain significance | 8 | 42459941 | 42459941 | Human | 1 | name |
| 126908282 | CV1052642 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1703C>T (p.Pro568Leu) | Idiopathic basal ganglia calcification 1 [RCV005420401]|not provided [RCV001751740] | pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance | 8 | 42430070 | 42430070 | Human | 1 | name |
| 150337433 | CV1165877 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1423A>T (p.Lys475Ter) | not provided [RCV001532620] | pathogenic | 8 | 42437089 | 42437089 | Human | | name |
| 150407484 | CV1199970 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1158C>A (p.Tyr386Ter) | not provided [RCV001579800] | pathogenic | 8 | 42437354 | 42437354 | Human | | name |
| 150499287 | CV1254334 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1825C>T (p.Arg609Cys) | not provided [RCV001676508] | benign | 8 | 42417937 | 42417937 | Human | | name |
| 151726434 | CV1291817 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1858C>T (p.Arg620Trp) | Vascular dementia [RCV002051766] | uncertain significance | 8 | 42417904 | 42417904 | Human | 1 | name |
| 150546022 | CV1297101 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1765G>A (p.Gly589Arg) | not provided [RCV001763392] | uncertain significance | 8 | 42428787 | 42428787 | Human | | name |
| 150552049 | CV1300835 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1568A>G (p.Gln523Arg) | not provided [RCV001754695] | uncertain significance | 8 | 42430205 | 42430205 | Human | | name |
| 150545569 | CV1315763 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1897G>T (p.Ala633Ser) | Idiopathic basal ganglia calcification 1 [RCV005420412]|not provided [RCV002541221] | uncertain significance | 8 | 42417865 | 42417865 | Human | 1 | name |
| 151350758 | CV1325766 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1438G>T (p.Ala480Ser) | not specified [RCV001815112] | uncertain significance | 8 | 42437074 | 42437074 | Human | | name |
| 151350763 | CV1325767 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1150A>T (p.Asn384Tyr) | Inborn genetic diseases [RCV002541504]|not specified [RCV001815113] | uncertain significance | 8 | 42437362 | 42437362 | Human | 1 | name |
| 151741755 | CV1335527 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1845C>G (p.Asp615Glu) | Idiopathic basal ganglia calcification 1 [RCV005420418] | likely pathogenic | 8 | 42417917 | 42417917 | Human | 1 | name |
| 151721666 | CV1347759 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1349G>A (p.Gly450Asp) | not provided [RCV001966071] | uncertain significance | 8 | 42437163 | 42437163 | Human | | name |
| 151838236 | CV1383147 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1595C>T (p.Thr532Ile) | Inborn genetic diseases [RCV002557726]|not provided [RCV001921220] | uncertain significance | 8 | 42430178 | 42430178 | Human | 1 | name |
| 151857392 | CV1410581 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1223C>A (p.Ser408Ter) | not provided [RCV001996706] | pathogenic | 8 | 42437289 | 42437289 | Human | | name |
| 151835775 | CV1436356 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1895T>C (p.Val632Ala) | not provided [RCV002014771] | uncertain significance | 8 | 42417867 | 42417867 | Human | | name |
| 151842372 | CV1473553 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1033C>T (p.His345Tyr) | not provided [RCV002031973] | uncertain significance | 8 | 42437479 | 42437479 | Human | | name |
| 151785251 | CV1481545 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1117C>T (p.Gln373Ter) | not provided [RCV001951471] | pathogenic | 8 | 42437395 | 42437395 | Human | | name |
| 152153499 | CV1667673 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1144C>T (p.Arg382Ter) | Idiopathic basal ganglia calcification 1 [RCV005420420] | pathogenic | 8 | 42437368 | 42437368 | Human | 1 | name |
| 155696075 | CV1778559 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1535G>A (p.Gly512Asp) | not provided [RCV002299632] | uncertain significance | 8 | 42430238 | 42430238 | Human | | name |
| 155800266 | CV1862868 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1933A>G (p.Met645Val) | Idiopathic basal ganglia calcification 1 [RCV005420435] | uncertain significance | 8 | 42417829 | 42417829 | Human | 1 | name |
| 156201972 | CV1868131 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1711G>A (p.Gly571Ser) | not provided [RCV003058191] | uncertain significance | 8 | 42428841 | 42428841 | Human | | name |
| 156180940 | CV2068458 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1261G>A (p.Val421Met) | not provided [RCV002851833] | uncertain significance | 8 | 42437251 | 42437251 | Human | | name |
| 156191241 | CV2086759 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1847G>A (p.Trp616Ter) | not provided [RCV002852145] | pathogenic | 8 | 42417915 | 42417915 | Human | | name |
| 155993102 | CV2095592 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1586A>C (p.Glu529Ala) | not provided [RCV002908256] | uncertain significance | 8 | 42430187 | 42430187 | Human | | name |
| 156364626 | CV2130514 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1070T>G (p.Leu357Arg) | not provided [RCV002967210] | uncertain significance | 8 | 42437442 | 42437442 | Human | | name |
| 156363540 | CV2180672 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1000G>C (p.Asp334His) | not provided [RCV003049188] | uncertain significance | 8 | 42437512 | 42437512 | Human | | name |
| 156248427 | CV2192634 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1399C>G (p.Arg467Gly) | not provided [RCV003059931] | uncertain significance | 8 | 42437113 | 42437113 | Human | | name |
| 156273190 | CV2283811 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1331A>T (p.Glu444Val) | Inborn genetic diseases [RCV002832439] | uncertain significance | 8 | 42437181 | 42437181 | Human | 1 | name |
| 156194181 | CV2297072 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1450C>T (p.His484Tyr) | Inborn genetic diseases [RCV002874422] | uncertain significance | 8 | 42437062 | 42437062 | Human | 1 | name |
| 156157669 | CV2359979 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1223C>T (p.Ser408Leu) | Inborn genetic diseases [RCV003004943]|not provided [RCV005099034] | uncertain significance | 8 | 42437289 | 42437289 | Human | 1 | name |
| 243050233 | CV2415427 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1158C>G (p.Tyr386Ter) | Idiopathic basal ganglia calcification 1 [RCV005420440] | pathogenic | 8 | 42437354 | 42437354 | Human | 1 | name |
| 329350781 | CV2421816 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1807G>A (p.Val603Met) | not provided [RCV003159520] | uncertain significance | 8 | 42417955 | 42417955 | Human | | name |
| 329848735 | CV2523483 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1555C>G (p.Leu519Val) | not provided [RCV003225497] | uncertain significance | 8 | 42430218 | 42430218 | Human | | name |
| 401858741 | CV2750635 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1681A>T (p.Lys561Ter) | not provided [RCV003334308] | pathogenic | 8 | 42430092 | 42430092 | Human | | name |
| 405170931 | CV2854412 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1762A>G (p.Ile588Val) | Inborn genetic diseases [RCV004364926]|not provided [RCV003542159] | likely benign | 8 | 42428790 | 42428790 | Human | 1 | name |
| 405240943 | CV2905070 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1652G>A (p.Trp551Ter) | not provided [RCV003557394] | pathogenic | 8 | 42430121 | 42430121 | Human | | name |
| 405063127 | CV2927182 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1504C>T (p.His502Tyr) | not provided [RCV003580621] | uncertain significance | 8 | 42437008 | 42437008 | Human | | name |
| 404993787 | CV2995979 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1292A>G (p.Asp431Gly) | not provided [RCV003692543] | uncertain significance | 8 | 42437220 | 42437220 | Human | | name |
| 405124257 | CV3043316 | duplication | NM_001257180.2(SLC20A2):c.1157dup (p.Tyr386Ter) | not provided [RCV003724216] | pathogenic | 8 | 42437354 | 42437355 | Human | | name |
| 11611179 | CV305350 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1438G>A (p.Ala480Thr) | Idiopathic basal ganglia calcification 1 [RCV005420171]|SLC20A2-related disorder [RCV003922634]|not provided [RCV001523704]|not specified [RCV001579610] | benign|likely benign|conflicting interpretations of pathogenicity | 8 | 42437074 | 42437074 | Human | 1 | name , trait , alternate_id |
| 11604112 | CV305352 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1377G>T (p.Glu459Asp) | Idiopathic basal ganglia calcification 1 [RCV005420172] | likely benign|uncertain significance | 8 | 42437135 | 42437135 | Human | 1 | name |
| 405103302 | CV3116216 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1859G>A (p.Arg620Gln) | not provided [RCV003811932] | uncertain significance | 8 | 42417903 | 42417903 | Human | | name |
| 405213290 | CV3127616 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1387C>A (p.Pro463Thr) | not provided [RCV003823664] | uncertain significance | 8 | 42437125 | 42437125 | Human | | name |
| 11603707 | CV314438 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1576G>T (p.Val526Leu) | Idiopathic basal ganglia calcification 1 [RCV005420169] | uncertain significance | 8 | 42430197 | 42430197 | Human | 1 | name |
| 11604715 | CV314446 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1090G>A (p.Asp364Asn) | Idiopathic basal ganglia calcification 1 [RCV005420175] | uncertain significance | 8 | 42437422 | 42437422 | Human | 1 | name |
| 405657195 | CV3307223 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1288T>A (p.Tyr430Asn) | Idiopathic basal ganglia calcification 1 [RCV005420453]|Inborn genetic diseases [RCV004953676]|not provided [RCV004775559] | uncertain significance | 8 | 42437224 | 42437224 | Human | 2 | name |
| 405712532 | CV3325143 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1534G>A (p.Gly512Ser) | Inborn genetic diseases [RCV004448690] | uncertain significance | 8 | 42430239 | 42430239 | Human | 1 | name |
| 405712537 | CV3325144 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1764C>G (p.Ile588Met) | Inborn genetic diseases [RCV004448691] | uncertain significance | 8 | 42428788 | 42428788 | Human | 1 | name |
| 405712545 | CV3325145 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1778G>T (p.Ser593Ile) | Inborn genetic diseases [RCV004448692] | uncertain significance | 8 | 42428774 | 42428774 | Human | 1 | name |
| 407457723 | CV3416204 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1519G>A (p.Val507Met) | not provided [RCV004599082] | uncertain significance | 8 | 42436993 | 42436993 | Human | | name |
| 407508925 | CV3477319 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1045A>G (p.Lys349Glu) | Inborn genetic diseases [RCV004672202]|not provided [RCV004767669] | uncertain significance | 8 | 42437467 | 42437467 | Human | 1 | name |
| 408384845 | CV3506358 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1290C>G (p.Tyr430Ter) | SLC20A2-related disorder [RCV004732163] | likely pathogenic | 8 | 42437222 | 42437222 | Human | | name , trait , alternate_id |
| 408380068 | CV3510457 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1016G>A (p.Ser339Asn) | Inborn genetic diseases [RCV005281554]|SLC20A2-related disorder [RCV004753929] | uncertain significance | 8 | 42437496 | 42437496 | Human | 2 | name , trait , alternate_id |
| 408380208 | CV3511519 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1600G>A (p.Val534Ile) | Inborn genetic diseases [RCV004953723]|SLC20A2-related disorder [RCV004753988] | likely benign | 8 | 42430173 | 42430173 | Human | 2 | name , trait , alternate_id |
| 408386306 | CV3528860 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1832G>A (p.Arg611His) | not provided [RCV004772693] | uncertain significance | 8 | 42417930 | 42417930 | Human | | name |
| 408389362 | CV3529352 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1616A>G (p.Tyr539Cys) | not provided [RCV004774174] | uncertain significance | 8 | 42430157 | 42430157 | Human | | name |
| 596929187 | CV3530997 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1304G>A (p.Ser435Asn) | not provided [RCV004779571] | uncertain significance | 8 | 42437208 | 42437208 | Human | | name |
| 596944817 | CV3543509 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1756T>C (p.Ser586Pro) | not provided [RCV004801631] | likely pathogenic | 8 | 42428796 | 42428796 | Human | | name |
| 596947101 | CV3547165 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1145G>A (p.Arg382Gln) | not provided [RCV004810973] | likely pathogenic | 8 | 42437367 | 42437367 | Human | | name |
| 597709494 | CV3596424 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1888G>A (p.Val630Ile) | Inborn genetic diseases [RCV004957880] | uncertain significance | 8 | 42417874 | 42417874 | Human | 1 | name |
| 597709510 | CV3596428 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1340C>T (p.Ala447Val) | Inborn genetic diseases [RCV004957883] | uncertain significance | 8 | 42437172 | 42437172 | Human | 1 | name |
| 597709671 | CV3596429 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1037C>G (p.Thr346Ser) | Inborn genetic diseases [RCV004957884] | uncertain significance | 8 | 42437475 | 42437475 | Human | 1 | name |
| 597709686 | CV3596431 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1496C>G (p.Ser499Cys) | Inborn genetic diseases [RCV004957886] | uncertain significance | 8 | 42437016 | 42437016 | Human | 1 | name |
| 597709692 | CV3596433 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1362G>A (p.Met454Ile) | Inborn genetic diseases [RCV004957887] | uncertain significance | 8 | 42437150 | 42437150 | Human | 1 | name |
| 597834087 | CV3735753 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1677G>A (p.Met559Ile) | not provided [RCV005063616] | uncertain significance | 8 | 42430096 | 42430096 | Human | | name |
| 597906032 | CV3785149 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1900G>A (p.Gly634Arg) | not provided [RCV005127992] | uncertain significance | 8 | 42417862 | 42417862 | Human | | name |
| 597960437 | CV3811888 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1214C>T (p.Ala405Val) | not provided [RCV005163541] | uncertain significance | 8 | 42437298 | 42437298 | Human | | name |
| 597847891 | CV3824064 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1795G>A (p.Val599Met) | not provided [RCV005173303] | uncertain significance | 8 | 42417967 | 42417967 | Human | | name |
| 597887977 | CV3839146 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1848G>A (p.Trp616Ter) | not provided [RCV005179231] | pathogenic | 8 | 42417914 | 42417914 | Human | | name |
| 597831641 | CV3863888 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1912G>A (p.Ala638Thr) | Idiopathic basal ganglia calcification 1 [RCV005420463] | uncertain significance | 8 | 42417850 | 42417850 | Human | 1 | name |
| 8567925 | CV38748 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1492G>A (p.Gly498Arg) | Idiopathic basal ganglia calcification 1 [RCV005419870]|not provided [RCV004696639] | pathogenic|likely pathogenic | 8 | 42437020 | 42437020 | Human | 1 | name |
| 8602025 | CV38749 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1802C>G (p.Ser601Trp) | Idiopathic basal ganglia calcification 1 [RCV005419871] | pathogenic|likely benign | 8 | 42417960 | 42417960 | Human | 1 | name |
| 8602026 | CV38750 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1802C>T (p.Ser601Leu) | Idiopathic basal ganglia calcification 1 [RCV005419872] | pathogenic|likely pathogenic|likely benign | 8 | 42417960 | 42417960 | Human | 1 | name |
| 8602027 | CV38751 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1723G>A (p.Glu575Lys) | Idiopathic basal ganglia calcification 1 [RCV005419873] | pathogenic|likely pathogenic | 8 | 42428829 | 42428829 | Human | 1 | name |
| 8602028 | CV38752 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1784C>T (p.Thr595Met) | Idiopathic basal ganglia calcification 1 [RCV005419874]|not provided [RCV002513170] | pathogenic|conflicting interpretations of pathogenicity|uncertain significance | 8 | 42428768 | 42428768 | Human | 1 | name |
| 598121766 | CV3889789 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1220C>A (p.Ser407Ter) | Idiopathic basal ganglia calcification 1 [RCV005420464] | likely pathogenic | 8 | 42437292 | 42437292 | Human | 1 | name |
| 598201102 | CV3892743 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1361T>A (p.Met454Lys) | not provided [RCV005254576] | uncertain significance | 8 | 42437151 | 42437151 | Human | | name |
| 598269252 | CV3921809 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1355T>G (p.Val452Gly) | Inborn genetic diseases [RCV005281929] | uncertain significance | 8 | 42437157 | 42437157 | Human | 1 | name |
| 598269269 | CV3921812 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1821G>C (p.Trp607Cys) | Inborn genetic diseases [RCV005281932] | uncertain significance | 8 | 42417941 | 42417941 | Human | 1 | name |
| 12895060 | CV407390 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1308C>G (p.Tyr436Ter) | not provided [RCV000485134] | likely pathogenic | 8 | 42437204 | 42437204 | Human | | name |
| 13509260 | CV481818 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1604G>A (p.Trp535Ter) | Idiopathic basal ganglia calcification 1 [RCV005420212]|not provided [RCV000579206] | pathogenic | 8 | 42430169 | 42430169 | Human | 1 | name |
| 13528530 | CV513426 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1723G>T (p.Glu575Ter) | Idiopathic basal ganglia calcification 1 [RCV005420220] | pathogenic | 8 | 42428829 | 42428829 | Human | 1 | name |
| 13819843 | CV575491 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1375G>T (p.Glu459Ter) | Idiopathic basal ganglia calcification 1 [RCV005420232] | pathogenic | 8 | 42437137 | 42437137 | Human | 1 | name |
| 14395788 | CV611699 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1399C>T (p.Arg467Ter) | Idiopathic basal ganglia calcification 1 [RCV005420234]|not provided [RCV000760455] | pathogenic | 8 | 42437113 | 42437113 | Human | 1 | name |
| 14695590 | CV622730 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1196A>C (p.His399Pro) | Idiopathic basal ganglia calcification 1 [RCV005420242] | likely pathogenic | 8 | 42437316 | 42437316 | Human | 1 | name |
| 15149734 | CV723108 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1934T>A (p.Met645Lys) | Idiopathic basal ganglia calcification 1 [RCV005420252]|not provided [RCV000879228] | benign | 8 | 42417828 | 42417828 | Human | 1 | name |
| 15188457 | CV736678 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1198G>A (p.Ala400Thr) | SLC20A2-related disorder [RCV004753107]|not provided [RCV000909374] | benign|likely benign | 8 | 42437314 | 42437314 | Human | 1 | name , trait , alternate_id |
| 28906374 | CV899613 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1849C>T (p.Arg617Cys) | Idiopathic basal ganglia calcification 1 [RCV005420350]|not provided [RCV001882501] | likely benign|uncertain significance | 8 | 42417913 | 42417913 | Human | 1 | name |
| 28908802 | CV899615 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1580C>T (p.Thr527Met) | Idiopathic basal ganglia calcification 1 [RCV005420353]|Inborn genetic diseases [RCV002559534]|not provided [RCV002032480] | benign|likely benign|uncertain significance | 8 | 42430193 | 42430193 | Human | 2 | name |
| 28908803 | CV899616 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1439C>T (p.Ala480Val) | Idiopathic basal ganglia calcification 1 [RCV005420354]|Inborn genetic diseases [RCV003163349]|not provided [RCV002032481] | uncertain significance | 8 | 42437073 | 42437073 | Human | 2 | name |
| 28870735 | CV899617 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1338G>C (p.Glu446Asp) | Idiopathic basal ganglia calcification 1 [RCV005420365]|not provided [RCV002558572] | likely benign|uncertain significance | 8 | 42437174 | 42437174 | Human | 1 | name |
| 40887571 | CV973671 | single nucleotide variant | NM_001257180.2(SLC20A2):c.1067A>T (p.Asp356Val) | Inborn genetic diseases [RCV001267189]|not provided [RCV004769982]|not specified [RCV005236748] | uncertain significance | 8 | 42437445 | 42437445 | Human | 1 | name |
| 150544936 | CV1315338 | deletion | NM_001257180.2(SLC20A2):c.165_169del (p.Glu55fs) | Idiopathic basal ganglia calcification 1 [RCV005420410] | likely pathogenic | 8 | 42472222 | 42472226 | Human | 1 | name |
| 408384636 | CV3504336 | microsatellite | NM_001257180.2(SLC20A2):c.260_261del (p.Leu87fs) | SLC20A2-related disorder [RCV004731926] | pathogenic | 8 | 42472130 | 42472131 | Human | | name , trait , alternate_id |
| 156015122 | CV2134122 | duplication | NM_001257180.2(SLC20A2):c.617_618dup (p.Gly207fs) | not provided [RCV003017950] | pathogenic | 8 | 42444757 | 42444758 | Human | | name |
| 156065193 | CV2175892 | deletion | NM_001257180.2(SLC20A2):c.943_944del (p.Leu315fs) | not provided [RCV003053542] | pathogenic | 8 | 42437568 | 42437569 | Human | | name |
| 405233407 | CV2981763 | deletion | NM_001257180.2(SLC20A2):c.783_786del (p.Ser261fs) | not provided [RCV003711889] | pathogenic | 8 | 42439598 | 42439601 | Human | | name |
| 8630968 | CV86124 | deletion | NM_001257180.2(SLC20A2):c.583_584del (p.Val195fs) | Idiopathic basal ganglia calcification 1 [RCV005419877]|not provided [RCV000793976] | pathogenic|likely pathogenic | 8 | 42459925 | 42459926 | Human | 1 | name |
| 243060607 | CV2408607 | microsatellite | NM_001257180.2(SLC20A2):c.1274AGA[1] (p.Lys426del) | Idiopathic basal ganglia calcification 1 [RCV005420439] | uncertain significance | 8 | 42437233 | 42437235 | Human | | name |
| 405188873 | CV2987743 | microsatellite | NM_001257180.2(SLC20A2):c.1426GAG[1] (p.Glu477del) | not provided [RCV003706279] | uncertain significance | 8 | 42437081 | 42437083 | Human | | name |
| 150337431 | CV1165876 | duplication | NM_001257180.2(SLC20A2):c.1440_1443dup (p.Glu482fs) | not provided [RCV001532619] | pathogenic | 8 | 42437068 | 42437069 | Human | | name |
| 155267814 | CV1701379 | microsatellite | NM_001257180.2(SLC20A2):c.1637_1638del (p.Thr546fs) | Idiopathic basal ganglia calcification 1 [RCV005420426] | pathogenic | 8 | 42430135 | 42430136 | Human | | name |
| 155799019 | CV1862280 | deletion | NM_001257180.2(SLC20A2):c.1438_1439del (p.Ala480fs) | Idiopathic basal ganglia calcification 1 [RCV005420434] | pathogenic | 8 | 42437073 | 42437074 | Human | 1 | name |
| 156299094 | CV2180671 | deletion | NM_001257180.2(SLC20A2):c.1239_1242del (p.Ser413fs) | not provided [RCV003028004] | pathogenic | 8 | 42437270 | 42437273 | Human | | name |
| 14696194 | CV622729 | deletion | NM_001257180.2(SLC20A2):c.1520_1521del (p.Val507fs) | Idiopathic basal ganglia calcification 1 [RCV005420239] | likely pathogenic | 8 | 42436991 | 42436992 | Human | 1 | name |
| 8630966 | CV86122 | deletion | NM_001257180.2(SLC20A2):c.1828_1831del (p.Ser610fs) | Idiopathic basal ganglia calcification 1 [RCV005419876]|SLC20A2-related disorder [RCV004730869] | pathogenic | 8 | 42417931 | 42417934 | Human | 1 | name , trait , alternate_id |
| 156446889 | CV1948573 | microsatellite | NM_001257180.2(SLC20A2):c.1419GGAGAAGGA[1] (p.473EEK[1]) | not provided [RCV003118408] | uncertain significance | 8 | 42437076 | 42437084 | Human | | name |
| 11664853 | CV264277 | deletion | NM_001257180.2(SLC20A2):c.509del (p.Ile169_Leu170insTer) | Idiopathic basal ganglia calcification 1 [RCV005419947]|SLC20A2-related disorder [RCV003409398]|not provided [RCV000303018] | pathogenic | 8 | 42463012 | 42463012 | Human | 1 | name , trait , alternate_id |
| 150431575 | CV1243742 | deletion | NM_001257180.2(SLC20A2):c.1822_1848del (p.Ile608_Trp616del) | not provided [RCV001663362] | likely pathogenic | 8 | 42417914 | 42417940 | Human | | name |
| 155803157 | CV1857968 | microsatellite | NM_001257180.2(SLC20A2):c.1419GGAGAAGGA[3] (p.Lys478_Asp479insGluGluLys) | not provided [RCV002461818] | uncertain significance | 8 | 42437075 | 42437076 | Human | | name |
| 156277937 | CV2053689 | insertion | NM_001257180.2(SLC20A2):c.516+9_516+10insAAAAAAGGTAAGTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA | not provided [RCV002806891] | uncertain significance | 8 | 42462995 | 42462996 | Human | | name |
