NM_000373.4(UMPS):c.983-2A>G |
single nucleotide variant |
not provided [RCV000722975] |
Chr3:124740022 [GRCh38] Chr3:124458869 [GRCh37] Chr3:3q21.2 |
uncertain significance |
NM_000373.4(UMPS):c.326T>G (p.Val109Gly) |
single nucleotide variant |
Orotic aciduria [RCV000012682] |
Chr3:124737583 [GRCh38] Chr3:124456430 [GRCh37] Chr3:3q21.2 |
pathogenic |
GRCh38/hg38 3q13.33-21.2(chr3:121644209-125676353)x1 |
copy number loss |
See cases [RCV000051569] |
Chr3:121644209..125676353 [GRCh38] Chr3:121363056..125395197 [GRCh37] Chr3:122845746..126877887 [NCBI36] Chr3:3q13.33-21.2 |
pathogenic |
GRCh38/hg38 3q13.32-21.2(chr3:119117166-125920734)x1 |
copy number loss |
See cases [RCV000051546] |
Chr3:119117166..125920734 [GRCh38] Chr3:118836013..125639577 [GRCh37] Chr3:120318703..127122267 [NCBI36] Chr3:3q13.32-21.2 |
pathogenic |
NM_000373.3(UMPS):c.-67T>C |
single nucleotide variant |
Orotic aciduria [RCV000391855]|not provided [RCV000086508] |
Chr3:124730405 [GRCh38] Chr3:124449252 [GRCh37] Chr3:125931942 [NCBI36] Chr3:3q21.2 |
benign|not provided |
NM_000373.3(UMPS):c.-28A>G |
single nucleotide variant |
Orotic aciduria [RCV000281476]|not provided [RCV000086509] |
Chr3:124730444 [GRCh38] Chr3:124449291 [GRCh37] Chr3:125931981 [NCBI36] Chr3:3q21.2 |
benign|not provided |
NM_000373.4(UMPS):c.638G>C (p.Gly213Ala) |
single nucleotide variant |
Orotic aciduria [RCV000306897]|capecitabine response - Toxicity/ADR [RCV000211228]|fluorouracil response - Toxicity/ADR [RCV000211351]|leucovorin response - Toxicity/ADR [RCV000211405]|not provided [RCV000086510]|not specified [RCV000247148]|tegafur response - Toxicity/ADR [RCV000211224] |
Chr3:124737895 [GRCh38] Chr3:124456742 [GRCh37] Chr3:125939432 [NCBI36] Chr3:3q21.2 |
benign|drug response|not provided |
NM_000373.4(UMPS):c.983-55C>G |
single nucleotide variant |
not provided [RCV000086511] |
Chr3:124739969 [GRCh38] Chr3:124458816 [GRCh37] Chr3:125941506 [NCBI36] Chr3:3q21.2 |
not provided |
NM_000373.4(UMPS):c.1050T>A (p.Val350=) |
single nucleotide variant |
Orotic aciduria [RCV000277760]|not provided [RCV000086512] |
Chr3:124740091 [GRCh38] Chr3:124458938 [GRCh37] Chr3:125941628 [NCBI36] Chr3:3q21.2 |
benign|likely benign|not provided |
NM_000373.4(UMPS):c.1274-52G>C |
single nucleotide variant |
not provided [RCV000086513] |
Chr3:124743863 [GRCh38] Chr3:124462710 [GRCh37] Chr3:125945400 [NCBI36] Chr3:3q21.2 |
not provided |
NM_000373.4(UMPS):c.1408G>T (p.Ala470Ser) |
single nucleotide variant |
not provided [RCV000086514] |
Chr3:124744049 [GRCh38] Chr3:124462896 [GRCh37] Chr3:125945586 [NCBI36] Chr3:3q21.2 |
not provided |
NM_000373.4(UMPS):c.870dup (p.Thr291fs) |
duplication |
not provided [RCV000999543] |
Chr3:124738123..124738124 [GRCh38] Chr3:124456970..124456971 [GRCh37] Chr3:3q21.2 |
likely pathogenic |
GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3 |
copy number gain |
See cases [RCV000134948] |
Chr3:103426882..198110178 [GRCh38] Chr3:103145726..197837049 [GRCh37] Chr3:104628416..199321446 [NCBI36] Chr3:3q13.11-29 |
pathogenic |
GRCh38/hg38 3q13.2-21.3(chr3:112620977-128734134)x1 |
copy number loss |
See cases [RCV000139033] |
Chr3:112620977..128734134 [GRCh38] Chr3:112339824..128452977 [GRCh37] Chr3:113822514..129935667 [NCBI36] Chr3:3q13.2-21.3 |
pathogenic |
GRCh38/hg38 3q13.33-21.3(chr3:121925147-126782249)x1 |
copy number loss |
See cases [RCV000140814] |
Chr3:121925147..126782249 [GRCh38] Chr3:121643994..126501092 [GRCh37] Chr3:123126684..127983782 [NCBI36] Chr3:3q13.33-21.3 |
pathogenic |
GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3 |
copy number gain |
See cases [RCV000142340] |
Chr3:93800620..145695381 [GRCh38] Chr3:93519464..145413168 [GRCh37] Chr3:95002154..146895858 [NCBI36] Chr3:3q11.1-24 |
pathogenic |
GRCh38/hg38 3q13.32-21.3(chr3:118673898-126540730)x1 |
copy number loss |
See cases [RCV000143695] |
Chr3:118673898..126540730 [GRCh38] Chr3:118392745..126259573 [GRCh37] Chr3:119875435..127742263 [NCBI36] Chr3:3q13.32-21.3 |
pathogenic |
NM_000373.4(UMPS):c.*3589C>T |
single nucleotide variant |
Orotic aciduria [RCV000260480] |
Chr3:124747673 [GRCh38] Chr3:124466520 [GRCh37] Chr3:3q21.2 |
benign |
NM_000373.4(UMPS):c.*1051G>T |
single nucleotide variant |
Orotic aciduria [RCV000260820] |
Chr3:124745135 [GRCh38] Chr3:124463982 [GRCh37] Chr3:3q21.2 |
benign |
NM_000373.4(UMPS):c.*3732C>T |
single nucleotide variant |
Orotic aciduria [RCV000265009] |
Chr3:124747816 [GRCh38] Chr3:124466663 [GRCh37] Chr3:3q21.2 |
likely benign |
NM_000373.4(UMPS):c.*1153C>T |
single nucleotide variant |
Orotic aciduria [RCV000262148] |
Chr3:124745237 [GRCh38] Chr3:124464084 [GRCh37] Chr3:3q21.2 |
uncertain significance |
NM_000373.4(UMPS):c.*5014C>T |
single nucleotide variant |
Orotic aciduria [RCV000280839] |
Chr3:124749098 [GRCh38] Chr3:124467945 [GRCh37] Chr3:3q21.2 |
benign|uncertain significance |
NM_000373.4(UMPS):c.*3131G>A |
single nucleotide variant |
Orotic aciduria [RCV000282257] |
Chr3:124747215 [GRCh38] Chr3:124466062 [GRCh37] Chr3:3q21.2 |
benign|uncertain significance |
NM_000373.4(UMPS):c.*28A>G |
single nucleotide variant |
Orotic aciduria [RCV000282849] |
Chr3:124744112 [GRCh38] Chr3:124462959 [GRCh37] Chr3:3q21.2 |
benign|likely benign |
NM_000373.4(UMPS):c.*1299del |
deletion |
Orotic aciduria [RCV000268229] |
Chr3:124745369 [GRCh38] Chr3:124464216 [GRCh37] Chr3:3q21.2 |
benign |
NM_000373.4(UMPS):c.*2202del |
deletion |
Orotic aciduria [RCV000269721] |
Chr3:124746285 [GRCh38] Chr3:124465132 [GRCh37] Chr3:3q21.2 |
likely benign |
NM_000373.4(UMPS):c.*4511G>A |
single nucleotide variant |
Orotic aciduria [RCV000269838] |
Chr3:124748595 [GRCh38] Chr3:124467442 [GRCh37] Chr3:3q21.2 |
uncertain significance |
NM_000373.4(UMPS):c.1320C>T (p.Gly440=) |
single nucleotide variant |
Orotic aciduria [RCV000281908]|not specified [RCV000242374] |
Chr3:124743961 [GRCh38] Chr3:124462808 [GRCh37] Chr3:3q21.2 |
benign |
NM_000373.4(UMPS):c.88A>G (p.Ser30Gly) |
single nucleotide variant |
Hereditary orotic aciduria, type 1 [RCV000529613]|Orotic aciduria [RCV000360796]|not specified [RCV000250276] |
Chr3:124730559 [GRCh38] Chr3:124449406 [GRCh37] Chr3:3q21.2 |
benign|likely benign |
NM_000373.4(UMPS):c.857T>A (p.Ile286Asn) |
single nucleotide variant |
Hereditary orotic aciduria, type 1 [RCV000814195]|Orotic aciduria [RCV000271631]|not provided [RCV000489675] |
Chr3:124738114 [GRCh38] Chr3:124456961 [GRCh37] Chr3:3q21.2 |
likely pathogenic|uncertain significance |
NM_000373.4(UMPS):c.*4485G>T |
single nucleotide variant |
Orotic aciduria [RCV000266446] |
Chr3:124748569 [GRCh38] Chr3:124467416 [GRCh37] Chr3:3q21.2 |
benign|likely benign |
NM_000373.4(UMPS):c.*3065C>T |
single nucleotide variant |
Orotic aciduria [RCV000277398] |
Chr3:124747149 [GRCh38] Chr3:124465996 [GRCh37] Chr3:3q21.2 |
likely benign|uncertain significance |
NM_000373.4(UMPS):c.1157C>T (p.Ala386Val) |
single nucleotide variant |
Orotic aciduria [RCV000332734] |
Chr3:124740198 [GRCh38] Chr3:124459045 [GRCh37] Chr3:3q21.2 |
uncertain significance |
NM_000373.4(UMPS):c.*1520del |
deletion |
Orotic aciduria [RCV000314441] |
Chr3:124745604 [GRCh38] Chr3:124464451 [GRCh37] Chr3:3q21.2 |
uncertain significance |
NM_000373.4(UMPS):c.*993A>T |
single nucleotide variant |
Orotic aciduria [RCV000314733] |
Chr3:124745077 [GRCh38] Chr3:124463924 [GRCh37] Chr3:3q21.2 |
benign|likely benign |
NM_000373.4(UMPS):c.*3537G>A |
single nucleotide variant |
Orotic aciduria [RCV000353009] |
Chr3:124747621 [GRCh38] Chr3:124466468 [GRCh37] Chr3:3q21.2 |
benign|likely benign |
NM_000373.4(UMPS):c.*1840A>G |
single nucleotide variant |
Orotic aciduria [RCV000301404] |
Chr3:124745924 [GRCh38] Chr3:124464771 [GRCh37] Chr3:3q21.2 |
uncertain significance |
NM_000373.4(UMPS):c.*4895A>G |
single nucleotide variant |
Orotic aciduria [RCV000334837] |
Chr3:124748979 [GRCh38] Chr3:124467826 [GRCh37] Chr3:3q21.2 |
uncertain significance |
NM_000373.4(UMPS):c.*1211C>A |
single nucleotide variant |
Orotic aciduria [RCV000376865] |
Chr3:124745295 [GRCh38] Chr3:124464142 [GRCh37] Chr3:3q21.2 |
benign |
NM_000373.4(UMPS):c.1374T>C (p.Asp458=) |
single nucleotide variant |
Orotic aciduria [RCV000377621] |
Chr3:124744015 [GRCh38] Chr3:124462862 [GRCh37] Chr3:3q21.2 |
likely benign|uncertain significance |
NM_000373.4(UMPS):c.*4344T>C |
single nucleotide variant |
Orotic aciduria [RCV000301798] |
Chr3:124748428 [GRCh38] Chr3:124467275 [GRCh37] Chr3:3q21.2 |
benign|uncertain significance |
NM_000373.4(UMPS):c.*4278G>A |
single nucleotide variant |
Orotic aciduria [RCV000336252] |
Chr3:124748362 [GRCh38] Chr3:124467209 [GRCh37] Chr3:3q21.2 |
benign |
NM_000373.4(UMPS):c.1336A>G (p.Ile446Val) |
single nucleotide variant |
Orotic aciduria [RCV000318277] |
Chr3:124743977 [GRCh38] Chr3:124462824 [GRCh37] Chr3:3q21.2 |
benign|likely benign |
NM_000373.4(UMPS):c.*1088T>G |
single nucleotide variant |
Orotic aciduria [RCV000357056] |
Chr3:124745172 [GRCh38] Chr3:124464019 [GRCh37] Chr3:3q21.2 |
benign|uncertain significance |
NM_000373.4(UMPS):c.*3701C>T |
single nucleotide variant |
Orotic aciduria [RCV000357464] |
Chr3:124747785 [GRCh38] Chr3:124466632 [GRCh37] Chr3:3q21.2 |
uncertain significance |
NM_000373.4(UMPS):c.*526A>G |
single nucleotide variant |
Orotic aciduria [RCV000402069] |
Chr3:124744610 [GRCh38] Chr3:124463457 [GRCh37] Chr3:3q21.2 |
benign|likely benign |
NM_000373.4(UMPS):c.*983C>T |
single nucleotide variant |
Orotic aciduria [RCV000403473] |
Chr3:124745067 [GRCh38] Chr3:124463914 [GRCh37] Chr3:3q21.2 |
benign|likely benign |
NM_000373.4(UMPS):c.*4016T>C |
single nucleotide variant |
Orotic aciduria [RCV000287420] |
Chr3:124748100 [GRCh38] Chr3:124466947 [GRCh37] Chr3:3q21.2 |
likely benign|uncertain significance |
NM_000373.4(UMPS):c.*3359G>T |
single nucleotide variant |
Orotic aciduria [RCV000289388] |
Chr3:124747443 [GRCh38] Chr3:124466290 [GRCh37] Chr3:3q21.2 |
uncertain significance |
NM_000373.4(UMPS):c.*1902G>A |
single nucleotide variant |
Orotic aciduria [RCV000358634] |
Chr3:124745986 [GRCh38] Chr3:124464833 [GRCh37] Chr3:3q21.2 |
uncertain significance |
NM_000373.4(UMPS):c.*4430C>T |
single nucleotide variant |
Orotic aciduria [RCV000358905] |
Chr3:124748514 [GRCh38] Chr3:124467361 [GRCh37] Chr3:3q21.2 |
benign|likely benign |
NM_000373.4(UMPS):c.*2159C>T |
single nucleotide variant |
Orotic aciduria [RCV000304792] |
Chr3:124746243 [GRCh38] Chr3:124465090 [GRCh37] Chr3:3q21.2 |
uncertain significance |
NM_000373.4(UMPS):c.*3152G>A |
single nucleotide variant |
Orotic aciduria [RCV000320943] |
Chr3:124747236 [GRCh38] Chr3:124466083 [GRCh37] Chr3:3q21.2 |
benign |
NM_000373.4(UMPS):c.*4078T>C |
single nucleotide variant |
Orotic aciduria [RCV000382910] |
Chr3:124748162 [GRCh38] Chr3:124467009 [GRCh37] Chr3:3q21.2 |
likely benign|uncertain significance |
NM_000373.4(UMPS):c.*2356T>C |
single nucleotide variant |
Orotic aciduria [RCV000383705] |
Chr3:124746440 [GRCh38] Chr3:124465287 [GRCh37] Chr3:3q21.2 |
uncertain significance |
NM_000373.4(UMPS):c.*1319G>A |
single nucleotide variant |
Orotic aciduria [RCV000288327] |
Chr3:124745403 [GRCh38] Chr3:124464250 [GRCh37] Chr3:3q21.2 |
benign|likely benign |
NM_000373.4(UMPS):c.*4486G>A |
single nucleotide variant |
Orotic aciduria [RCV000305264] |
Chr3:124748570 [GRCh38] Chr3:124467417 [GRCh37] Chr3:3q21.2 |
benign|likely benign |
NM_000373.4(UMPS):c.21T>C (p.Ala7=) |
single nucleotide variant |
Hereditary orotic aciduria, type 1 [RCV000887858]|Orotic aciduria [RCV000306042] |
Chr3:124730492 [GRCh38] Chr3:124449339 [GRCh37] Chr3:3q21.2 |
benign|likely benign|uncertain significance |
NM_000373.4(UMPS):c.*1155T>C |
single nucleotide variant |
Orotic aciduria [RCV000322065] |
Chr3:124745239 [GRCh38] Chr3:124464086 [GRCh37] Chr3:3q21.2 |
likely benign|uncertain significance |
NM_000373.4(UMPS):c.-19A>G |
single nucleotide variant |
Orotic aciduria [RCV000340976] |
Chr3:124730453 [GRCh38] Chr3:124449300 [GRCh37] Chr3:3q21.2 |
uncertain significance |
NM_000373.4(UMPS):c.*1342C>T |
single nucleotide variant |
Orotic aciduria [RCV000383942] |
Chr3:124745426 [GRCh38] Chr3:124464273 [GRCh37] Chr3:3q21.2 |
uncertain significance |
NM_000373.4(UMPS):c.*4755G>A |
single nucleotide variant |
Orotic aciduria [RCV000384238] |
Chr3:124748839 [GRCh38] Chr3:124467686 [GRCh37] Chr3:3q21.2 |
uncertain significance |
NM_000373.4(UMPS):c.*1711T>G |
single nucleotide variant |
Orotic aciduria [RCV000406938] |
Chr3:124745795 [GRCh38] Chr3:124464642 [GRCh37] Chr3:3q21.2 |
benign |
NM_000373.4(UMPS):c.*1517C>A |
single nucleotide variant |
Orotic aciduria [RCV000406945] |
Chr3:124745601 [GRCh38] Chr3:124464448 [GRCh37] Chr3:3q21.2 |
uncertain significance |
NM_000373.4(UMPS):c.*4316C>A |
single nucleotide variant |
Orotic aciduria [RCV000406959] |
Chr3:124748400 [GRCh38] Chr3:124467247 [GRCh37] Chr3:3q21.2 |
benign |
NM_000373.4(UMPS):c.*4252G>T |
single nucleotide variant |
Orotic aciduria [RCV000406961] |
Chr3:124748336 [GRCh38] Chr3:124467183 [GRCh37] Chr3:3q21.2 |
benign|likely benign |
NM_000373.4(UMPS):c.*2672_*2673TG[26] |
microsatellite |
Orotic aciduria [RCV000407740] |
Chr3:124746755..124746756 [GRCh38] Chr3:124465602..124465603 [GRCh37] Chr3:3q21.2 |
uncertain significance |
NM_000373.4(UMPS):c.*1349G>A |
single nucleotide variant |
Orotic aciduria [RCV000292294] |
Chr3:124745433 [GRCh38] Chr3:124464280 [GRCh37] Chr3:3q21.2 |
likely benign|uncertain significance |
NM_000373.4(UMPS):c.*3990A>T |
single nucleotide variant |
Orotic aciduria [RCV000322518] |
Chr3:124748074 [GRCh38] Chr3:124466921 [GRCh37] Chr3:3q21.2 |
benign |
NM_000373.4(UMPS):c.*1298_*1299del |
deletion |
Orotic aciduria [RCV000323450] |
Chr3:124745369..124745370 [GRCh38] Chr3:124464216..124464217 [GRCh37] Chr3:3q21.2 |
uncertain significance |
NM_000373.4(UMPS):c.*56del |
deletion |
Orotic aciduria [RCV000342485] |
Chr3:124744140 [GRCh38] Chr3:124462987 [GRCh37] Chr3:3q21.2 |
likely benign |
NM_000373.4(UMPS):c.*4178A>G |
single nucleotide variant |
Orotic aciduria [RCV000385981] |
Chr3:124748262 [GRCh38] Chr3:124467109 [GRCh37] Chr3:3q21.2 |
uncertain significance |
NM_000373.4(UMPS):c.*725A>T |
single nucleotide variant |
Orotic aciduria [RCV000344097] |
Chr3:124744809 [GRCh38] Chr3:124463656 [GRCh37] Chr3:3q21.2 |
benign |
NM_000373.4(UMPS):c.*2605G>A |
single nucleotide variant |
Orotic aciduria [RCV000387087] |
Chr3:124746689 [GRCh38] Chr3:124465536 [GRCh37] Chr3:3q21.2 |
uncertain significance |
NM_000373.4(UMPS):c.*4215C>T |
single nucleotide variant |
Orotic aciduria [RCV000294021] |
Chr3:124748299 [GRCh38] Chr3:124467146 [GRCh37] Chr3:3q21.2 |
uncertain significance |
NM_000373.4(UMPS):c.*2884A>G |
single nucleotide variant |
Orotic aciduria [RCV000309051] |
Chr3:124746968 [GRCh38] Chr3:124465815 [GRCh37] Chr3:3q21.2 |
likely benign |
NM_000373.4(UMPS):c.*814C>T |
single nucleotide variant |
Orotic aciduria [RCV000309120] |
Chr3:124744898 [GRCh38] Chr3:124463745 [GRCh37] Chr3:3q21.2 |
uncertain significance |
NM_000373.4(UMPS):c.*4065C>T |
single nucleotide variant |
Orotic aciduria [RCV000326016] |
Chr3:124748149 [GRCh38] Chr3:124466996 [GRCh37] Chr3:3q21.2 |
uncertain significance |
NM_000373.4(UMPS):c.*2901G>C |
single nucleotide variant |
Orotic aciduria [RCV000366038] |
Chr3:124746985 [GRCh38] Chr3:124465832 [GRCh37] Chr3:3q21.2 |
likely benign |
NM_000373.4(UMPS):c.827G>A (p.Ser276Asn) |
single nucleotide variant |
Orotic aciduria [RCV000366213] |
Chr3:124738084 [GRCh38] Chr3:124456931 [GRCh37] Chr3:3q21.2 |
uncertain significance |
NM_000373.4(UMPS):c.*4876C>G |
single nucleotide variant |
Orotic aciduria [RCV000388147] |
Chr3:124748960 [GRCh38] Chr3:124467807 [GRCh37] Chr3:3q21.2 |
likely benign|uncertain significance |
NM_000373.4(UMPS):c.*2230C>T |
single nucleotide variant |
Orotic aciduria [RCV000327101] |
Chr3:124746314 [GRCh38] Chr3:124465161 [GRCh37] Chr3:3q21.2 |
uncertain significance |
NM_000373.4(UMPS):c.*4717C>T |
single nucleotide variant |
Orotic aciduria [RCV000327388] |
Chr3:124748801 [GRCh38] Chr3:124467648 [GRCh37] Chr3:3q21.2 |
benign|likely benign |
NM_000373.4(UMPS):c.*3367C>A |
single nucleotide variant |
Orotic aciduria [RCV000346741] |
Chr3:124747451 [GRCh38] Chr3:124466298 [GRCh37] Chr3:3q21.2 |
uncertain significance |
NM_000373.4(UMPS):c.1038A>G (p.Pro346=) |
single nucleotide variant |
Hereditary orotic aciduria, type 1 [RCV000974686]|Orotic aciduria [RCV000367608] |
Chr3:124740079 [GRCh38] Chr3:124458926 [GRCh37] Chr3:3q21.2 |
benign|likely benign |
NM_000373.4(UMPS):c.*3264G>A |
single nucleotide variant |
Orotic aciduria [RCV000390254] |
Chr3:124747348 [GRCh38] Chr3:124466195 [GRCh37] Chr3:3q21.2 |
likely benign|uncertain significance |
NM_000373.4(UMPS):c.*2614G>A |
single nucleotide variant |
Orotic aciduria [RCV000295287] |
Chr3:124746698 [GRCh38] Chr3:124465545 [GRCh37] Chr3:3q21.2 |
benign |
NM_000373.4(UMPS):c.*4138T>G |
single nucleotide variant |
Orotic aciduria [RCV000347741] |
Chr3:124748222 [GRCh38] Chr3:124467069 [GRCh37] Chr3:3q21.2 |
benign |
NM_000373.4(UMPS):c.*1326C>A |
single nucleotide variant |
Orotic aciduria [RCV000348000] |
Chr3:124745410 [GRCh38] Chr3:124464257 [GRCh37] Chr3:3q21.2 |
benign|likely benign |
NM_000373.4(UMPS):c.*3414A>G |
single nucleotide variant |
Orotic aciduria [RCV000368107] |
Chr3:124747498 [GRCh38] Chr3:124466345 [GRCh37] Chr3:3q21.2 |
benign|likely benign |
NM_000373.4(UMPS):c.*3026G>A |
single nucleotide variant |
Orotic aciduria [RCV000369408] |
Chr3:124747110 [GRCh38] Chr3:124465957 [GRCh37] Chr3:3q21.2 |
benign |
NM_000373.4(UMPS):c.*1050C>T |
single nucleotide variant |
Orotic aciduria [RCV000369471] |
Chr3:124745134 [GRCh38] Chr3:124463981 [GRCh37] Chr3:3q21.2 |
uncertain significance |
NM_000373.4(UMPS):c.*3374C>G |
single nucleotide variant |
Orotic aciduria [RCV000391767] |
Chr3:124747458 [GRCh38] Chr3:124466305 [GRCh37] Chr3:3q21.2 |
uncertain significance |
NM_000373.4(UMPS):c.18A>G (p.Ala6=) |
single nucleotide variant |
Hereditary orotic aciduria, type 1 [RCV000892542]|Orotic aciduria [RCV000391856] |
Chr3:124730489 [GRCh38] Chr3:124449336 [GRCh37] Chr3:3q21.2 |
benign|likely benign|uncertain significance |
NM_000373.4(UMPS):c.*3447T>C |
single nucleotide variant |
Orotic aciduria [RCV000392556] |
Chr3:124747531 [GRCh38] Chr3:124466378 [GRCh37] Chr3:3q21.2 |
uncertain significance |
NM_000373.4(UMPS):c.*4883C>T |
single nucleotide variant |
Orotic aciduria [RCV000295980] |
Chr3:124748967 [GRCh38] Chr3:124467814 [GRCh37] Chr3:3q21.2 |
uncertain significance |
NM_000373.4(UMPS):c.*3376C>T |
single nucleotide variant |
Orotic aciduria [RCV000311137] |
Chr3:124747460 [GRCh38] Chr3:124466307 [GRCh37] Chr3:3q21.2 |
benign|likely benign |
NM_000373.4(UMPS):c.*726C>T |
single nucleotide variant |
Orotic aciduria [RCV000392625] |
Chr3:124744810 [GRCh38] Chr3:124463657 [GRCh37] Chr3:3q21.2 |
benign |
NM_000373.4(UMPS):c.*1080A>G |
single nucleotide variant |
Orotic aciduria [RCV000297553] |
Chr3:124745164 [GRCh38] Chr3:124464011 [GRCh37] Chr3:3q21.2 |
uncertain significance |
NM_000373.4(UMPS):c.*2412_*2414GAA[1] |
microsatellite |
Orotic aciduria [RCV000330189] |
Chr3:124746495..124746497 [GRCh38] Chr3:124465342..124465344 [GRCh37] Chr3:3q21.2 |
likely benign |
NM_000373.4(UMPS):c.*868del |
deletion |
Orotic aciduria [RCV000349926] |
Chr3:124744952 [GRCh38] Chr3:124463799 [GRCh37] Chr3:3q21.2 |
uncertain significance |
NM_000373.4(UMPS):c.1273+14C>T |
single nucleotide variant |
Orotic aciduria [RCV000371765] |
Chr3:124742280 [GRCh38] Chr3:124461127 [GRCh37] Chr3:3q21.2 |
uncertain significance |
NM_000373.4(UMPS):c.*4263T>C |
single nucleotide variant |
Orotic aciduria [RCV000297626] |
Chr3:124748347 [GRCh38] Chr3:124467194 [GRCh37] Chr3:3q21.2 |
uncertain significance |
NM_000373.4(UMPS):c.*2995A>G |
single nucleotide variant |
Orotic aciduria [RCV000331307] |
Chr3:124747079 [GRCh38] Chr3:124465926 [GRCh37] Chr3:3q21.2 |
benign |
NM_000373.4(UMPS):c.953T>C (p.Ile318Thr) |
single nucleotide variant |
Orotic aciduria [RCV000331596] |
Chr3:124738210 [GRCh38] Chr3:124457057 [GRCh37] Chr3:3q21.2 |
uncertain significance |
NM_000373.4(UMPS):c.*3130C>T |
single nucleotide variant |
Orotic aciduria [RCV000373027] |
Chr3:124747214 [GRCh38] Chr3:124466061 [GRCh37] Chr3:3q21.2 |
likely benign|uncertain significance |
NM_000373.4(UMPS):c.*4906G>C |
single nucleotide variant |
Orotic aciduria [RCV000373097] |
Chr3:124748990 [GRCh38] Chr3:124467837 [GRCh37] Chr3:3q21.2 |
benign|likely benign |
NM_000373.4(UMPS):c.*2672_*2673TG[22] |
microsatellite |
Orotic aciduria [RCV000280072] |
Chr3:124746755..124746756 [GRCh38] Chr3:124465602..124465603 [GRCh37] Chr3:3q21.2 |
uncertain significance |
NM_000373.4(UMPS):c.*2672_*2673TG[20] |
microsatellite |
Orotic aciduria [RCV000282909] |
Chr3:124746756..124746757 [GRCh38] Chr3:124465603..124465604 [GRCh37] Chr3:3q21.2 |
uncertain significance |
NM_000373.4(UMPS):c.*2410_*2412del |
deletion |
Orotic aciduria [RCV000272890] |
Chr3:124746494..124746496 [GRCh38] Chr3:124465341..124465343 [GRCh37] Chr3:3q21.2 |
uncertain significance |
NM_000373.4(UMPS):c.*4765_*4767del |
deletion |
Orotic aciduria [RCV000273792] |
Chr3:124748847..124748849 [GRCh38] Chr3:124467694..124467696 [GRCh37] Chr3:3q21.2 |
uncertain significance |
NM_000373.4(UMPS):c.*2930_*2933TTTG[4] |
microsatellite |
Orotic aciduria [RCV000273851] |
Chr3:124747013..124747014 [GRCh38] Chr3:124465860..124465861 [GRCh37] Chr3:3q21.2 |
benign |
NM_000373.4(UMPS):c.*2672_*2673TG[24] |
microsatellite |
Orotic aciduria [RCV000336903] |
Chr3:124746755..124746756 [GRCh38] Chr3:124465602..124465603 [GRCh37] Chr3:3q21.2 |
uncertain significance |
NM_000373.4(UMPS):c.*2672_*2673TG[25] |
microsatellite |
Orotic aciduria [RCV000391946] |
Chr3:124746755..124746756 [GRCh38] Chr3:124465602..124465603 [GRCh37] Chr3:3q21.2 |
uncertain significance |
NM_000373.4(UMPS):c.*2054A>G |
single nucleotide variant |
Orotic aciduria [RCV000266271] |
Chr3:124746138 [GRCh38] Chr3:124464985 [GRCh37] Chr3:3q21.2 |
uncertain significance |
NM_000373.4(UMPS):c.*3495T>C |
single nucleotide variant |
Orotic aciduria [RCV000314505] |
Chr3:124747579 [GRCh38] Chr3:124466426 [GRCh37] Chr3:3q21.2 |
uncertain significance |
NM_000373.4(UMPS):c.*2172A>G |
single nucleotide variant |
Orotic aciduria [RCV000361864] |
Chr3:124746256 [GRCh38] Chr3:124465103 [GRCh37] Chr3:3q21.2 |
uncertain significance |
NM_000373.4(UMPS):c.*2715_*2718del |
deletion |
Orotic aciduria [RCV000362129] |
Chr3:124746796..124746799 [GRCh38] Chr3:124465643..124465646 [GRCh37] Chr3:3q21.2 |
uncertain significance |
NM_000373.4(UMPS):c.*4496G>A |
single nucleotide variant |
Orotic aciduria [RCV000362193] |
Chr3:124748580 [GRCh38] Chr3:124467427 [GRCh37] Chr3:3q21.2 |
uncertain significance |
NM_000373.4(UMPS):c.*5120_*5124del |
deletion |
Orotic aciduria [RCV000399075] |
Chr3:124749201..124749205 [GRCh38] Chr3:124468048..124468052 [GRCh37] Chr3:3q21.2 |
uncertain significance |
NM_000373.4(UMPS):c.*5133del |
deletion |
Orotic aciduria [RCV000303328] |
Chr3:124749217 [GRCh38] Chr3:124468064 [GRCh37] Chr3:3q21.2 |
uncertain significance |
NM_000373.4(UMPS):c.*3083G>T |
single nucleotide variant |
Orotic aciduria [RCV000316102] |
Chr3:124747167 [GRCh38] Chr3:124466014 [GRCh37] Chr3:3q21.2 |
uncertain significance |
NM_000373.4(UMPS):c.*4862A>G |
single nucleotide variant |
Orotic aciduria [RCV000331257] |
Chr3:124748946 [GRCh38] Chr3:124467793 [GRCh37] Chr3:3q21.2 |
uncertain significance |
NM_000373.4(UMPS):c.*1306_*1307del |
deletion |
Orotic aciduria [RCV000382658] |
Chr3:124745389..124745390 [GRCh38] Chr3:124464236..124464237 [GRCh37] Chr3:3q21.2 |
uncertain significance |
NM_000373.4(UMPS):c.*2703G>A |
single nucleotide variant |
Orotic aciduria [RCV000305190] |
Chr3:124746787 [GRCh38] Chr3:124465634 [GRCh37] Chr3:3q21.2 |
uncertain significance |
NM_000373.4(UMPS):c.*3598C>G |
single nucleotide variant |
Orotic aciduria [RCV000318007] |
Chr3:124747682 [GRCh38] Chr3:124466529 [GRCh37] Chr3:3q21.2 |
uncertain significance |
NM_000373.4(UMPS):c.*2716T>C |
single nucleotide variant |
Orotic aciduria [RCV000404628] |
Chr3:124746800 [GRCh38] Chr3:124465647 [GRCh37] Chr3:3q21.2 |
uncertain significance |
NM_000373.4(UMPS):c.441T>C (p.Thr147=) |
single nucleotide variant |
Orotic aciduria [RCV000404632] |
Chr3:124737698 [GRCh38] Chr3:124456545 [GRCh37] Chr3:3q21.2 |
uncertain significance |
NM_000373.4(UMPS):c.*1535G>A |
single nucleotide variant |
Orotic aciduria [RCV000334313] |
Chr3:124745619 [GRCh38] Chr3:124464466 [GRCh37] Chr3:3q21.2 |
uncertain significance |
NM_000373.4(UMPS):c.*1418T>A |
single nucleotide variant |
Orotic aciduria [RCV000349515] |
Chr3:124745502 [GRCh38] Chr3:124464349 [GRCh37] Chr3:3q21.2 |
uncertain significance |
NM_000373.4(UMPS):c.*4231A>G |
single nucleotide variant |
Orotic aciduria [RCV000351228] |
Chr3:124748315 [GRCh38] Chr3:124467162 [GRCh37] Chr3:3q21.2 |
uncertain significance |
NM_000373.4(UMPS):c.*3193T>C |
single nucleotide variant |
Orotic aciduria [RCV000285783] |
Chr3:124747277 [GRCh38] Chr3:124466124 [GRCh37] Chr3:3q21.2 |
uncertain significance |
NM_000373.4(UMPS):c.*2632C>A |
single nucleotide variant |
Orotic aciduria [RCV000352456] |
Chr3:124746716 [GRCh38] Chr3:124465563 [GRCh37] Chr3:3q21.2 |
uncertain significance |
NM_000373.4(UMPS):c.*5027A>G |
single nucleotide variant |
Orotic aciduria [RCV000338258] |
Chr3:124749111 [GRCh38] Chr3:124467958 [GRCh37] Chr3:3q21.2 |
uncertain significance |
NM_000373.4(UMPS):c.*2671T>G |
single nucleotide variant |
Orotic aciduria [RCV000372269] |
Chr3:124746755 [GRCh38] Chr3:124465602 [GRCh37] Chr3:3q21.2 |
uncertain significance |
NM_000373.4(UMPS):c.*2672_*2673TG[18] |
microsatellite |
Orotic aciduria [RCV000340235] |
Chr3:124746756..124746761 [GRCh38] Chr3:124465603..124465608 [GRCh37] Chr3:3q21.2 |
uncertain significance |
NM_000373.4(UMPS):c.*691C>G |
single nucleotide variant |
Orotic aciduria [RCV000288639] |
Chr3:124744775 [GRCh38] Chr3:124463622 [GRCh37] Chr3:3q21.2 |
uncertain significance |
NM_000373.3(UMPS):c.-110A>G |
single nucleotide variant |
Orotic aciduria [RCV000266064]|not provided [RCV000086507] |
Chr3:124730362 [GRCh38] Chr3:124449209 [GRCh37] Chr3:125931899 [NCBI36] Chr3:3q21.2 |
benign|not provided |
NM_000373.4(UMPS):c.*3258A>C |
single nucleotide variant |
Orotic aciduria [RCV000343189] |
Chr3:124747342 [GRCh38] Chr3:124466189 [GRCh37] Chr3:3q21.2 |
uncertain significance |
NM_000373.4(UMPS):c.*3183dup |
duplication |
Orotic aciduria [RCV000377788] |
Chr3:124747266..124747267 [GRCh38] Chr3:124466113..124466114 [GRCh37] Chr3:3q21.2 |
benign |
NM_000373.4(UMPS):c.*4116G>A |
single nucleotide variant |
Orotic aciduria [RCV000290841] |
Chr3:124748200 [GRCh38] Chr3:124467047 [GRCh37] Chr3:3q21.2 |
uncertain significance |
NM_000373.4(UMPS):c.*4013_*4017ATATA[1] |
microsatellite |
Orotic aciduria [RCV000379510] |
Chr3:124748097..124748101 [GRCh38] Chr3:124466944..124466948 [GRCh37] Chr3:3q21.2 |
uncertain significance |
NM_000373.4(UMPS):c.126C>A (p.Gly42=) |
single nucleotide variant |
Hereditary orotic aciduria, type 1 [RCV001088895]|not provided [RCV000593609] |
Chr3:124730597 [GRCh38] Chr3:124449444 [GRCh37] Chr3:3q21.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000373.4(UMPS):c.2T>C (p.Met1Thr) |
single nucleotide variant |
not provided [RCV000722619] |
Chr3:124730473 [GRCh38] Chr3:124449320 [GRCh37] Chr3:3q21.2 |
uncertain significance |
NM_000373.4(UMPS):c.1123G>A (p.Gly375Ser) |
single nucleotide variant |
Orotic aciduria [RCV000626243] |
Chr3:124740164 [GRCh38] Chr3:124459011 [GRCh37] Chr3:3q21.2 |
likely pathogenic |
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 |
copy number gain |
See cases [RCV000511055] |
Chr3:61892..197851986 [GRCh37] Chr3:3p26.3-q29 |
pathogenic |
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) |
copy number gain |
See cases [RCV000512358] |
Chr3:61892..197851986 [GRCh37] Chr3:3p26.3-q29 |
pathogenic |
NM_000373.4(UMPS):c.982+1G>C |
single nucleotide variant |
Hereditary orotic aciduria, type 1 [RCV000634546] |
Chr3:124738240 [GRCh38] Chr3:124457087 [GRCh37] Chr3:3q21.2 |
uncertain significance |
NM_000373.4(UMPS):c.1375C>G (p.Arg459Gly) |
single nucleotide variant |
Hereditary orotic aciduria, type 1 [RCV000634547] |
Chr3:124744016 [GRCh38] Chr3:124462863 [GRCh37] Chr3:3q21.2 |
uncertain significance |
GRCh37/hg19 3q21.1-21.2(chr3:122698091-125036994)x1 |
copy number loss |
not provided [RCV000682303] |
Chr3:122698091..125036994 [GRCh37] Chr3:3q21.1-21.2 |
uncertain significance |
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 |
copy number gain |
not provided [RCV000742138] |
Chr3:61495..197838262 [GRCh37] Chr3:3p26.3-q29 |
pathogenic |
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 |
copy number gain |
not provided [RCV000742133] |
Chr3:60174..197948027 [GRCh37] Chr3:3p26.3-q29 |
pathogenic |
NM_000373.4(UMPS):c.1296C>T (p.Tyr432=) |
single nucleotide variant |
not provided [RCV000895206] |
Chr3:124743937 [GRCh38] Chr3:124462784 [GRCh37] Chr3:3q21.2 |
likely benign |
NM_000373.4(UMPS):c.670G>T (p.Glu224Ter) |
single nucleotide variant |
not provided [RCV000760808] |
Chr3:124737927 [GRCh38] Chr3:124456774 [GRCh37] Chr3:3q21.2 |
pathogenic |
NM_000373.4(UMPS):c.*4782G>A |
single nucleotide variant |
Orotic aciduria [RCV001147210] |
Chr3:124748866 [GRCh38] Chr3:124467713 [GRCh37] Chr3:3q21.2 |
uncertain significance |
NM_000373.4(UMPS):c.*516A>G |
single nucleotide variant |
Orotic aciduria [RCV001147700] |
Chr3:124744600 [GRCh38] Chr3:124463447 [GRCh37] Chr3:3q21.2 |
uncertain significance |
NM_000373.4(UMPS):c.*1931G>A |
single nucleotide variant |
Orotic aciduria [RCV001147803] |
Chr3:124746015 [GRCh38] Chr3:124464862 [GRCh37] Chr3:3q21.2 |
benign |
NM_000373.4(UMPS):c.1290A>G (p.Gln430=) |
single nucleotide variant |
Hereditary orotic aciduria, type 1 [RCV000973819]|Orotic aciduria [RCV001146807] |
Chr3:124743931 [GRCh38] Chr3:124462778 [GRCh37] Chr3:3q21.2 |
benign|uncertain significance |
NM_000373.4(UMPS):c.681C>T (p.Phe227=) |
single nucleotide variant |
not provided [RCV000884263] |
Chr3:124737938 [GRCh38] Chr3:124456785 [GRCh37] Chr3:3q21.2 |
likely benign |
NM_000373.4(UMPS):c.210C>T (p.Thr70=) |
single nucleotide variant |
not provided [RCV000914247] |
Chr3:124735146 [GRCh38] Chr3:124453993 [GRCh37] Chr3:3q21.2 |
likely benign |
NM_000373.4(UMPS):c.1418_1419del (p.Ala473fs) |
deletion |
Hereditary orotic aciduria, type 1 [RCV001048493] |
Chr3:124744058..124744059 [GRCh38] Chr3:124462905..124462906 [GRCh37] Chr3:3q21.2 |
uncertain significance |
NM_000373.4(UMPS):c.385G>T (p.Gly129Ter) |
single nucleotide variant |
Orotic aciduria [RCV000779380] |
Chr3:124737642 [GRCh38] Chr3:124456489 [GRCh37] Chr3:3q21.2 |
uncertain significance |
NM_000373.4(UMPS):c.286A>G (p.Arg96Gly) |
single nucleotide variant |
not provided [RCV000782231] |
Chr3:124735222 [GRCh38] Chr3:124454069 [GRCh37] Chr3:3q21.2 |
likely benign |
NM_000373.4(UMPS):c.336T>A (p.Thr112=) |
single nucleotide variant |
not provided [RCV000894922] |
Chr3:124737593 [GRCh38] Chr3:124456440 [GRCh37] Chr3:3q21.2 |
benign |
NM_000373.4(UMPS):c.1017A>G (p.Leu339=) |
single nucleotide variant |
not provided [RCV000902920] |
Chr3:124740058 [GRCh38] Chr3:124458905 [GRCh37] Chr3:3q21.2 |
likely benign |
NM_000373.4(UMPS):c.310+8A>G |
single nucleotide variant |
not provided [RCV000939286] |
Chr3:124735254 [GRCh38] Chr3:124454101 [GRCh37] Chr3:3q21.2 |
likely benign |
NM_000373.4(UMPS):c.495G>A (p.Ala165=) |
single nucleotide variant |
Hereditary orotic aciduria, type 1 [RCV000966317]|Orotic aciduria [RCV001150932] |
Chr3:124737752 [GRCh38] Chr3:124456599 [GRCh37] Chr3:3q21.2 |
benign|uncertain significance |
NM_000373.4(UMPS):c.768A>G (p.Leu256=) |
single nucleotide variant |
Orotic aciduria [RCV001150933]|not provided [RCV000894816] |
Chr3:124738025 [GRCh38] Chr3:124456872 [GRCh37] Chr3:3q21.2 |
likely benign|uncertain significance |
GRCh37/hg19 3q21.2-21.3(chr3:124369671-126423192) |
copy number loss |
not provided [RCV000767706] |
Chr3:124369671..126423192 [GRCh37] Chr3:3q21.2-21.3 |
likely pathogenic |
NM_000373.4(UMPS):c.636T>C (p.Asn212=) |
single nucleotide variant |
not provided [RCV000915409] |
Chr3:124737893 [GRCh38] Chr3:124456740 [GRCh37] Chr3:3q21.2 |
likely benign |
NM_000373.4(UMPS):c.1285G>C (p.Gly429Arg) |
single nucleotide variant |
not provided [RCV000782232] |
Chr3:124743926 [GRCh38] Chr3:124462773 [GRCh37] Chr3:3q21.2 |
likely benign |
NM_000373.4(UMPS):c.1211C>T (p.Ser404Phe) |
single nucleotide variant |
Hereditary orotic aciduria, type 1 [RCV000818701] |
Chr3:124742204 [GRCh38] Chr3:124461051 [GRCh37] Chr3:3q21.2 |
uncertain significance |
NM_000373.4(UMPS):c.*1192C>T |
single nucleotide variant |
Orotic aciduria [RCV001146897] |
Chr3:124745276 [GRCh38] Chr3:124464123 [GRCh37] Chr3:3q21.2 |
uncertain significance |
NM_000373.4(UMPS):c.*2035C>T |
single nucleotide variant |
Orotic aciduria [RCV001149349] |
Chr3:124746119 [GRCh38] Chr3:124464966 [GRCh37] Chr3:3q21.2 |
uncertain significance |
NM_000373.4(UMPS):c.*2197A>G |
single nucleotide variant |
Orotic aciduria [RCV001149351] |
Chr3:124746281 [GRCh38] Chr3:124465128 [GRCh37] Chr3:3q21.2 |
uncertain significance |
NM_000373.4(UMPS):c.*5085C>A |
single nucleotide variant |
Orotic aciduria [RCV001148103] |
Chr3:124749169 [GRCh38] Chr3:124468016 [GRCh37] Chr3:3q21.2 |
uncertain significance |
NM_000373.4(UMPS):c.*37C>T |
single nucleotide variant |
Orotic aciduria [RCV001147695] |
Chr3:124744121 [GRCh38] Chr3:124462968 [GRCh37] Chr3:3q21.2 |
uncertain significance |
NM_000373.4(UMPS):c.*882G>C |
single nucleotide variant |
Orotic aciduria [RCV001151048] |
Chr3:124744966 [GRCh38] Chr3:124463813 [GRCh37] Chr3:3q21.2 |
uncertain significance |
NM_000373.4(UMPS):c.*2741C>T |
single nucleotide variant |
Orotic aciduria [RCV001147003] |
Chr3:124746825 [GRCh38] Chr3:124465672 [GRCh37] Chr3:3q21.2 |
uncertain significance |
NM_000373.4(UMPS):c.499G>A (p.Gly167Arg) |
single nucleotide variant |
Hereditary orotic aciduria, type 1 [RCV000794181] |
Chr3:124737756 [GRCh38] Chr3:124456603 [GRCh37] Chr3:3q21.2 |
uncertain significance |
NM_000373.4(UMPS):c.1158+10G>C |
single nucleotide variant |
Orotic aciduria [RCV001146806] |
Chr3:124740209 [GRCh38] Chr3:124459056 [GRCh37] Chr3:3q21.2 |
uncertain significance |
NM_000373.4(UMPS):c.1316T>C (p.Ile439Thr) |
single nucleotide variant |
Orotic aciduria [RCV001146808] |
Chr3:124743957 [GRCh38] Chr3:124462804 [GRCh37] Chr3:3q21.2 |
uncertain significance |
NM_000373.4(UMPS):c.*1249C>G |
single nucleotide variant |
Orotic aciduria [RCV001146898] |
Chr3:124745333 [GRCh38] Chr3:124464180 [GRCh37] Chr3:3q21.2 |
uncertain significance |
NM_000373.4(UMPS):c.*2711G>A |
single nucleotide variant |
Orotic aciduria [RCV001147001] |
Chr3:124746795 [GRCh38] Chr3:124465642 [GRCh37] Chr3:3q21.2 |
uncertain significance |
NM_000373.4(UMPS):c.1063C>A (p.Gln355Lys) |
single nucleotide variant |
Hereditary orotic aciduria, type 1 [RCV001213416] |
Chr3:124740104 [GRCh38] Chr3:124458951 [GRCh37] Chr3:3q21.2 |
uncertain significance |
NM_000373.4(UMPS):c.*1128G>T |
single nucleotide variant |
Orotic aciduria [RCV001144950] |
Chr3:124745212 [GRCh38] Chr3:124464059 [GRCh37] Chr3:3q21.2 |
uncertain significance |
NM_000373.4(UMPS):c.*2631C>G |
single nucleotide variant |
Orotic aciduria [RCV001145053] |
Chr3:124746715 [GRCh38] Chr3:124465562 [GRCh37] Chr3:3q21.2 |
uncertain significance |
NM_000373.4(UMPS):c.*4570C>T |
single nucleotide variant |
Orotic aciduria [RCV001145250] |
Chr3:124748654 [GRCh38] Chr3:124467501 [GRCh37] Chr3:3q21.2 |
uncertain significance |
NM_000373.4(UMPS):c.*4638G>A |
single nucleotide variant |
Orotic aciduria [RCV001145252] |
Chr3:124748722 [GRCh38] Chr3:124467569 [GRCh37] Chr3:3q21.2 |
uncertain significance |
NM_000373.4(UMPS):c.689G>A (p.Arg230His) |
single nucleotide variant |
Hereditary orotic aciduria, type 1 [RCV001234258] |
Chr3:124737946 [GRCh38] Chr3:124456793 [GRCh37] Chr3:3q21.2 |
uncertain significance |
NM_000373.4(UMPS):c.*2231G>A |
single nucleotide variant |
Orotic aciduria [RCV001149352] |
Chr3:124746315 [GRCh38] Chr3:124465162 [GRCh37] Chr3:3q21.2 |
uncertain significance |
NM_000373.4(UMPS):c.*469C>T |
single nucleotide variant |
Orotic aciduria [RCV001147699] |
Chr3:124744553 [GRCh38] Chr3:124463400 [GRCh37] Chr3:3q21.2 |
uncertain significance |
NM_000373.4(UMPS):c.*1843A>C |
single nucleotide variant |
Orotic aciduria [RCV001147801] |
Chr3:124745927 [GRCh38] Chr3:124464774 [GRCh37] Chr3:3q21.2 |
uncertain significance |
NM_000373.4(UMPS):c.726G>A (p.Lys242=) |
single nucleotide variant |
not provided [RCV000973345] |
Chr3:124737983 [GRCh38] Chr3:124456830 [GRCh37] Chr3:3q21.2 |
likely benign |
NM_000373.4(UMPS):c.498C>T (p.His166=) |
single nucleotide variant |
not provided [RCV000898240] |
Chr3:124737755 [GRCh38] Chr3:124456602 [GRCh37] Chr3:3q21.2 |
likely benign |
NM_000373.4(UMPS):c.*2552A>G |
single nucleotide variant |
Orotic aciduria [RCV001145052] |
Chr3:124746636 [GRCh38] Chr3:124465483 [GRCh37] Chr3:3q21.2 |
uncertain significance |
NM_000373.4(UMPS):c.*3494G>A |
single nucleotide variant |
Orotic aciduria [RCV001145147] |
Chr3:124747578 [GRCh38] Chr3:124466425 [GRCh37] Chr3:3q21.2 |
likely benign |
NM_000373.4(UMPS):c.*274C>T |
single nucleotide variant |
Orotic aciduria [RCV001147697] |
Chr3:124744358 [GRCh38] Chr3:124463205 [GRCh37] Chr3:3q21.2 |
uncertain significance |
NM_000373.4(UMPS):c.*348C>T |
single nucleotide variant |
Orotic aciduria [RCV001147698] |
Chr3:124744432 [GRCh38] Chr3:124463279 [GRCh37] Chr3:3q21.2 |
likely benign |
NM_000373.4(UMPS):c.*1853G>A |
single nucleotide variant |
Orotic aciduria [RCV001147802] |
Chr3:124745937 [GRCh38] Chr3:124464784 [GRCh37] Chr3:3q21.2 |
uncertain significance |
NM_000373.4(UMPS):c.*4119T>C |
single nucleotide variant |
Orotic aciduria [RCV001148004] |
Chr3:124748203 [GRCh38] Chr3:124467050 [GRCh37] Chr3:3q21.2 |
uncertain significance |
NM_000373.4(UMPS):c.*2036A>T |
single nucleotide variant |
Orotic aciduria [RCV001149350] |
Chr3:124746120 [GRCh38] Chr3:124464967 [GRCh37] Chr3:3q21.2 |
uncertain significance |
NM_000373.4(UMPS):c.*3326C>T |
single nucleotide variant |
Orotic aciduria [RCV001149437] |
Chr3:124747410 [GRCh38] Chr3:124466257 [GRCh37] Chr3:3q21.2 |
uncertain significance |
NM_000373.4(UMPS):c.449T>A (p.Ile150Lys) |
single nucleotide variant |
Hereditary orotic aciduria, type 1 [RCV001217980] |
Chr3:124737706 [GRCh38] Chr3:124456553 [GRCh37] Chr3:3q21.2 |
uncertain significance |
NM_000373.4(UMPS):c.627G>A (p.Ala209=) |
single nucleotide variant |
not provided [RCV000912763] |
Chr3:124737884 [GRCh38] Chr3:124456731 [GRCh37] Chr3:3q21.2 |
likely benign |
NM_000373.4(UMPS):c.*3512C>G |
single nucleotide variant |
Orotic aciduria [RCV001145148] |
Chr3:124747596 [GRCh38] Chr3:124466443 [GRCh37] Chr3:3q21.2 |
uncertain significance |
NM_000373.4(UMPS):c.*3594A>G |
single nucleotide variant |
Orotic aciduria [RCV001145149] |
Chr3:124747678 [GRCh38] Chr3:124466525 [GRCh37] Chr3:3q21.2 |
uncertain significance |
NM_000373.4(UMPS):c.*4693G>A |
single nucleotide variant |
Orotic aciduria [RCV001145254] |
Chr3:124748777 [GRCh38] Chr3:124467624 [GRCh37] Chr3:3q21.2 |
uncertain significance |
NM_000373.4(UMPS):c.*4672C>T |
single nucleotide variant |
Orotic aciduria [RCV001145253] |
Chr3:124748756 [GRCh38] Chr3:124467603 [GRCh37] Chr3:3q21.2 |
uncertain significance |
NM_000373.4(UMPS):c.1052T>C (p.Val351Ala) |
single nucleotide variant |
Orotic aciduria [RCV001144837] |
Chr3:124740093 [GRCh38] Chr3:124458940 [GRCh37] Chr3:3q21.2 |
uncertain significance |
NM_000373.4(UMPS):c.1117T>G (p.Ser373Ala) |
single nucleotide variant |
Orotic aciduria [RCV001144839] |
Chr3:124740158 [GRCh38] Chr3:124459005 [GRCh37] Chr3:3q21.2 |
uncertain significance |
NM_000373.4(UMPS):c.*1100C>T |
single nucleotide variant |
Orotic aciduria [RCV001144949] |
Chr3:124745184 [GRCh38] Chr3:124464031 [GRCh37] Chr3:3q21.2 |
uncertain significance |
NM_000373.4(UMPS):c.*4623C>T |
single nucleotide variant |
Orotic aciduria [RCV001145251] |
Chr3:124748707 [GRCh38] Chr3:124467554 [GRCh37] Chr3:3q21.2 |
uncertain significance |
NM_000373.4(UMPS):c.799T>C (p.Leu267=) |
single nucleotide variant |
Orotic aciduria [RCV001150934] |
Chr3:124738056 [GRCh38] Chr3:124456903 [GRCh37] Chr3:3q21.2 |
uncertain significance |
NM_000373.4(UMPS):c.1158G>A (p.Ala386=) |
single nucleotide variant |
Orotic aciduria [RCV001146805] |
Chr3:124740199 [GRCh38] Chr3:124459046 [GRCh37] Chr3:3q21.2 |
uncertain significance |
NM_000373.4(UMPS):c.*2718C>T |
single nucleotide variant |
Orotic aciduria [RCV001147002] |
Chr3:124746802 [GRCh38] Chr3:124465649 [GRCh37] Chr3:3q21.2 |
benign |
NM_000373.4(UMPS):c.*3785C>G |
single nucleotide variant |
Orotic aciduria [RCV001147115] |
Chr3:124747869 [GRCh38] Chr3:124466716 [GRCh37] Chr3:3q21.2 |
benign |
NM_000373.4(UMPS):c.*4934A>G |
single nucleotide variant |
Orotic aciduria [RCV001147211] |
Chr3:124749018 [GRCh38] Chr3:124467865 [GRCh37] Chr3:3q21.2 |
uncertain significance |
NM_000373.4(UMPS):c.*3020G>A |
single nucleotide variant |
Orotic aciduria [RCV001147894] |
Chr3:124747104 [GRCh38] Chr3:124465951 [GRCh37] Chr3:3q21.2 |
benign |
NM_000373.4(UMPS):c.703A>G (p.Arg235Gly) |
single nucleotide variant |
Hereditary orotic aciduria, type 1 [RCV001047177] |
Chr3:124737960 [GRCh38] Chr3:124456807 [GRCh37] Chr3:3q21.2 |
uncertain significance |
NM_000373.4(UMPS):c.1088G>A (p.Arg363Gln) |
single nucleotide variant |
Orotic aciduria [RCV001144838] |
Chr3:124740129 [GRCh38] Chr3:124458976 [GRCh37] Chr3:3q21.2 |
uncertain significance |
NM_000373.4(UMPS):c.*4739G>T |
single nucleotide variant |
Orotic aciduria [RCV001145255] |
Chr3:124748823 [GRCh38] Chr3:124467670 [GRCh37] Chr3:3q21.2 |
benign |
NM_000373.4(UMPS):c.*4432A>G |
single nucleotide variant |
Orotic aciduria [RCV001149544] |
Chr3:124748516 [GRCh38] Chr3:124467363 [GRCh37] Chr3:3q21.2 |
uncertain significance |
NM_000373.4(UMPS):c.*2783C>T |
single nucleotide variant |
Orotic aciduria [RCV001147004] |
Chr3:124746867 [GRCh38] Chr3:124465714 [GRCh37] Chr3:3q21.2 |
uncertain significance |
NM_000373.4(UMPS):c.105C>T (p.Pro35=) |
single nucleotide variant |
Orotic aciduria [RCV001150931] |
Chr3:124730576 [GRCh38] Chr3:124449423 [GRCh37] Chr3:3q21.2 |
uncertain significance |
NM_000373.4(UMPS):c.811G>C (p.Asp271His) |
single nucleotide variant |
Orotic aciduria [RCV001150935] |
Chr3:124738068 [GRCh38] Chr3:124456915 [GRCh37] Chr3:3q21.2 |
uncertain significance |
NM_000373.4(UMPS):c.*255T>C |
single nucleotide variant |
Orotic aciduria [RCV001147696] |
Chr3:124744339 [GRCh38] Chr3:124463186 [GRCh37] Chr3:3q21.2 |
uncertain significance |