Total 112 pathogenic variants reported for Xanthinuria type II 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_000379.4(XDH):c.682C>T (p.Arg228Ter) SNV
Germline
Chr2:31386525 Pathogenic/Likely pathogenic Hereditary xanthinuria type 1
Xanthinuria type II
Criteria Provided
Multiple Submitters
No Conflicts
CA210838 rs_119460972

4 SubmittersRCV000003088RCV001383575

NM_017947.4(MOCOS):c.1255C>T (p.Arg419Ter) SNV
Germline
Chr18:36213402 Pathogenic Xanthinuria type II Criteria Provided
Multiple Submitters
No Conflicts
CA8940673 rs_142150953

4 SubmittersRCV000239577

NM_017947.4(MOCOS):c.169G>C (p.Ala57Pro) SNV
Germline
Chr18:36195283 Pathogenic Xanthinuria type II No Assertion Criteria Provided
CA10586224 rs_886037854

1 SubmittersRCV000239490

NM_017947.4(MOCOS):c.2326C>T (p.Arg776Cys) SNV
Germline
Chr18:36260092 Likely pathogenic Xanthinuria type II
Autism spectrum disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA8941021 rs_750896617

4 SubmittersRCV000239542RCV003313948

NM_000379.4(XDH):c.3847C>T (p.Arg1283Ter) SNV
Germline
Chr2:31337745 Pathogenic Xanthinuria type II
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA1598242 rs_751921838

2 SubmittersRCV001387749RCV002461092

NM_000379.4(XDH):c.3647C>A (p.Pro1216His) SNV
Germline
Chr2:31339616 Conflicting classifications of pathogenicity Hereditary xanthinuria type 1
Xanthinuria type II
Condition: not provided
Criteria Provided
Conflicting Classifications
CA1598307 rs_143981573

5 SubmittersRCV000336876RCV001240018RCV003480605

NM_000379.4(XDH):c.2634T>C (p.Ile878=) SNV
Germline
Chr2:31350221 Conflicting classifications of pathogenicity Hereditary xanthinuria type 1
Xanthinuria type II
Condition: not provided
XDH-related disorder
Criteria Provided
Conflicting Classifications
CA1598721 rs_146994573

6 SubmittersRCV000273894RCV000968296RCV001729548RCV003932334

NM_000379.4(XDH):c.1243-7C>G SNV
Germline
Chr2:31377244 Conflicting classifications of pathogenicity Hereditary xanthinuria type 1
Xanthinuria type II
Criteria Provided
Conflicting Classifications
CA1599285 rs_200362582

2 SubmittersRCV000317392RCV002057694

NM_000379.4(XDH):c.1800C>T (p.Tyr600=) SNV
Germline
Chr2:31372284 Conflicting classifications of pathogenicity Hereditary xanthinuria type 1
Xanthinuria type II
Criteria Provided
Conflicting Classifications
CA1599078 rs_139964785

2 SubmittersRCV000344904RCV001498392

NM_000379.4(XDH):c.617C>T (p.Pro206Leu) SNV
Germline
Chr2:31387845 Conflicting classifications of pathogenicity Hereditary xanthinuria type 1
Xanthinuria type II
Criteria Provided
Conflicting Classifications
CA1599557 rs_201332711

2 SubmittersRCV000381572RCV002523132

NM_000379.4(XDH):c.606G>A (p.Thr202=) SNV
Germline
Chr2:31387856 Conflicting classifications of pathogenicity Hereditary xanthinuria type 1
Xanthinuria type II
Criteria Provided
Conflicting Classifications
CA1599559 rs_752308380

2 SubmittersRCV000289556RCV002519967

NM_000379.4(XDH):c.405C>T (p.Thr135=) SNV
Germline
Chr2:31398601 Conflicting classifications of pathogenicity Hereditary xanthinuria type 1
Xanthinuria type II
Criteria Provided
Conflicting Classifications
CA1599654 rs_72549370

2 SubmittersRCV000293407RCV000973896

NM_000379.4(XDH):c.3930C>T (p.Cys1310=) SNV
Germline
Chr2:31337662 Conflicting classifications of pathogenicity Hereditary xanthinuria type 1
Xanthinuria type II
Condition: not provided
Criteria Provided
Conflicting Classifications
CA1598213 rs_138936101

3 SubmittersRCV000382813RCV000905670RCV003409530

NM_000379.4(XDH):c.3052-4C>T SNV
Germline
Chr2:31348367 Conflicting classifications of pathogenicity Hereditary xanthinuria type 1
Condition: not provided
Xanthinuria type II
Criteria Provided
Conflicting Classifications
CA1598570 rs_370085305

4 SubmittersRCV000309015RCV001729547RCV000902914

NM_000379.4(XDH):c.2851G>A (p.Gly951Arg) SNV
Germline
Chr2:31349804 Conflicting classifications of pathogenicity Hereditary xanthinuria type 1
Xanthinuria type II
XDH-related disorder
Criteria Provided
Conflicting Classifications
CA1598647 rs_142675390

3 SubmittersRCV000370785RCV001485627RCV003932333

NM_000379.4(XDH):c.2592C>T (p.His864=) SNV
Germline
Chr2:31364197 Conflicting classifications of pathogenicity Xanthinuria
Xanthinuria type II
Criteria Provided
Conflicting Classifications
CA1598749 rs_368056609

2 SubmittersRCV000331212RCV002057692

NM_000379.4(XDH):c.1749G>A (p.Ala583=) SNV
Germline
Chr2:31372335 Conflicting classifications of pathogenicity Hereditary xanthinuria type 1
Xanthinuria type II
Criteria Provided
Conflicting Classifications
CA1599092 rs_141831710

2 SubmittersRCV000315328RCV002057693

NM_000379.4(XDH):c.3249C>T (p.Ser1083=) SNV
Germline
Chr2:31347549 Conflicting classifications of pathogenicity Xanthinuria type II
Hereditary xanthinuria type 1
XDH-related disorder
Criteria Provided
Conflicting Classifications
CA1598489 rs_45562835

3 SubmittersRCV002057691RCV000400119RCV003932332

NM_000379.4(XDH):c.1856+7G>A SNV
Germline
Chr2:31372221 Conflicting classifications of pathogenicity Hereditary xanthinuria type 1
Condition: not provided
Xanthinuria type II
Criteria Provided
Conflicting Classifications
CA1599063 rs_184028774

3 SubmittersRCV000306483RCV003409531RCV000968777

NM_000379.4(XDH):c.1274C>G (p.Ser425Cys) SNV
Germline
Chr2:31377206 Conflicting classifications of pathogenicity Hereditary xanthinuria type 1
Xanthinuria type II
Condition: not provided
Criteria Provided
Conflicting Classifications
CA1599278 rs_138649664

3 SubmittersRCV000259874RCV000972440RCV005243202

NM_000379.4(XDH):c.825T>C (p.Phe275=) SNV
Germline
Chr2:31383816 Conflicting classifications of pathogenicity Hereditary xanthinuria type 1
Xanthinuria type II
Criteria Provided
Conflicting Classifications
CA1599468 rs_145596057

2 SubmittersRCV000290893RCV000971724

NM_000379.4(XDH):c.1686+1G>C SNV
Germline
Chr2:31373872 Conflicting classifications of pathogenicity Hereditary xanthinuria type 1
Xanthinuria type II
Condition: not provided
XDH-related disorder
Criteria Provided
Conflicting Classifications
CA1599136 rs_148412639

7 SubmittersRCV000616942RCV000685712RCV003156264RCV004730996

NM_000379.4(XDH):c.1602+1G>A SNV
Germline
Chr2:31375379 Likely pathogenic Xanthinuria type II
Hereditary xanthinuria type 1
Criteria Provided
Multiple Submitters
No Conflicts
CA1599185 rs_376882470

2 SubmittersRCV000686047RCV002485596

NM_000379.4(XDH):c.2362A>T (p.Ile788Phe) SNV
Germline
Chr2:31366070 Conflicting classifications of pathogenicity Xanthinuria type II
Hereditary xanthinuria type 1
XDH-related disorder
not specified
Criteria Provided
Conflicting Classifications
CA1598848 rs_141050887

5 SubmittersRCV000805413RCV001137768RCV003413614RCV005432434

NM_000379.4(XDH):c.3864T>C (p.Gly1288=) SNV
Germline
Chr2:31337728 Conflicting classifications of pathogenicity Xanthinuria type II
Hereditary xanthinuria type 1
XDH-related disorder
Criteria Provided
Conflicting Classifications
CA1598236 rs_148477626

3 SubmittersRCV000974712RCV001142399RCV004756143

NM_000379.4(XDH):c.3536T>C (p.Ile1179Thr) SNV
Germline
Chr2:31341378 Conflicting classifications of pathogenicity Xanthinuria type II
Condition: not provided
Hereditary xanthinuria type 1
not specified
XDH-related disorder
Criteria Provided
Conflicting Classifications
CA1598353 rs_139515054

8 SubmittersRCV000973780RCV001577252RCV001137653RCV004702544RCV003906069

NM_000379.4(XDH):c.1868C>T (p.Thr623Ile) SNV
Germline
Chr2:31370467 Conflicting classifications of pathogenicity Xanthinuria type II
Condition: not provided
Hereditary xanthinuria type 1
Criteria Provided
Conflicting Classifications
CA1599045 rs_45448694

5 SubmittersRCV000973814RCV001702577RCV001142626

NM_000379.4(XDH):c.1726C>T (p.Arg576Trp) SNV
Germline
Chr2:31372358 Conflicting classifications of pathogenicity Xanthinuria type II
Hereditary xanthinuria type 1
XDH-related disorder
Criteria Provided
Conflicting Classifications
CA1599097 rs_139772558

3 SubmittersRCV000960512RCV001137878RCV003926125

NM_000379.4(XDH):c.1663C>T (p.Pro555Ser) SNV
Germline
Chr2:31373896 Conflicting classifications of pathogenicity Xanthinuria type II
Hereditary xanthinuria type 1
Criteria Provided
Conflicting Classifications
CA1599147 rs_45577338

2 SubmittersRCV000970821RCV001137879

NM_000379.4(XDH):c.882C>T (p.Pro294=) SNV
Germline
Chr2:31383759 Conflicting classifications of pathogenicity Xanthinuria type II
Hereditary xanthinuria type 1
Condition: not provided
XDH-related disorder
Criteria Provided
Conflicting Classifications
CA1599450 rs_138246330

6 SubmittersRCV000968297RCV001142740RCV001729769RCV003936061

NM_000379.4(XDH):c.3018T>C (p.Phe1006=) SNV
Germline
Chr2:31348932 Conflicting classifications of pathogenicity Xanthinuria type II
Hereditary xanthinuria type 1
XDH-related disorder
not specified
Criteria Provided
Conflicting Classifications
CA1598592 rs_144883930

4 SubmittersRCV000882905RCV001142534RCV003955856RCV005436252

NM_000379.4(XDH):c.2037A>C (p.Thr679=) SNV
Germline
Chr2:31368604 Conflicting classifications of pathogenicity Xanthinuria type II
Hereditary xanthinuria type 1
Criteria Provided
Conflicting Classifications
CA1598980 rs_139998082

2 SubmittersRCV000888642RCV001140766

NM_000379.4(XDH):c.883G>A (p.Asp295Asn) SNV
Germline
Chr2:31383758 Conflicting classifications of pathogenicity Hereditary xanthinuria type 1
Inborn genetic diseases
Xanthinuria type II
Criteria Provided
Conflicting Classifications
CA1599449 rs_142335345

3 SubmittersRCV002501437RCV002540068RCV003591794

NM_000379.4(XDH):c.822G>A (p.Leu274=) SNV
Germline
Chr2:31383819 Conflicting classifications of pathogenicity Xanthinuria type II
Condition: not provided
XDH-related disorder
Hereditary xanthinuria type 1
not specified
Criteria Provided
Conflicting Classifications
CA1599469 rs_113345553

5 SubmittersRCV000887797RCV001796808RCV004756071RCV001142742RCV001796306

NM_017947.4(MOCOS):c.1316T>C (p.Met439Thr) SNV
Germline
Chr18:36213463 Conflicting classifications of pathogenicity Xanthinuria type II
not specified
Condition: not provided
Criteria Provided
Conflicting Classifications
CA8940692 rs_144644128

3 SubmittersRCV000892921RCV004028424RCV004705886

NM_000379.4(XDH):c.1042G>A (p.Val348Ile) SNV
Germline
Chr2:31381723 Conflicting classifications of pathogenicity Hereditary xanthinuria type 1
Xanthinuria type II
Criteria Provided
Conflicting Classifications
CA1599366 rs_192453952

2 SubmittersRCV001140886RCV002065960

NM_000379.4(XDH):c.1037C>T (p.Ala346Val) SNV
Germline
Chr2:31383002 Conflicting classifications of pathogenicity Xanthinuria type II
Hereditary xanthinuria type 1
XDH-related disorder
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA1599394 rs_142388231

6 SubmittersRCV000983957RCV001142739RCV003943294RCV002549615

NM_000379.4(XDH):c.2360G>A (p.Arg787Gln) SNV
Germline
Chr2:31366072 Conflicting classifications of pathogenicity Xanthinuria type II
Hereditary xanthinuria type 1
Inborn genetic diseases
Condition: not provided
Criteria Provided
Conflicting Classifications
CA1598849 rs_149717617

6 SubmittersRCV001054353RCV001137769RCV002553344RCV003883541

NM_000379.4(XDH):c.2751G>A (p.Gly917=) SNV
Germline
Chr2:31350104 Conflicting classifications of pathogenicity Hereditary xanthinuria type 1
Xanthinuria type II
Criteria Provided
Conflicting Classifications
CA1598691 rs_369230654

2 SubmittersRCV001142536RCV002070708

NM_000379.4(XDH):c.2452T>C (p.Tyr818His) SNV
Germline
Chr2:31365980 Conflicting classifications of pathogenicity Hereditary xanthinuria type 1
Inborn genetic diseases
Xanthinuria type II
Criteria Provided
Conflicting Classifications
CA1598830 rs_139272198

4 SubmittersRCV001137764RCV002556935RCV001873541

NM_000379.4(XDH):c.1663C>A (p.Pro555Thr) SNV
Germline
Chr2:31373896 Conflicting classifications of pathogenicity Hereditary xanthinuria type 1
Xanthinuria type II
Criteria Provided
Conflicting Classifications
CA1599146 rs_45577338

2 SubmittersRCV001137880RCV001444877

NM_000379.4(XDH):c.859C>G (p.Leu287Val) SNV
Germline
Chr2:31383782 Conflicting classifications of pathogenicity Hereditary xanthinuria type 1
Condition: not provided
Xanthinuria type II
Criteria Provided
Conflicting Classifications
CA1599458 rs_138674014

4 SubmittersRCV001142741RCV003405349RCV001361227

NM_000379.4(XDH):c.670C>T (p.Arg224Trp) SNV
Germline
Chr2:31386537 Conflicting classifications of pathogenicity Hereditary xanthinuria type 1
Xanthinuria type II
XDH-related disorder
Criteria Provided
Conflicting Classifications
CA1599523 rs_147533056

4 SubmittersRCV001137988RCV001351004RCV003906252

NM_000379.4(XDH):c.545A>G (p.Asn182Ser) SNV
Germline
Chr2:31388246 Conflicting classifications of pathogenicity Hereditary xanthinuria type 1
Xanthinuria type II
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA1599587 rs_770109772

4 SubmittersRCV001138407RCV001882420RCV004032323

NM_000379.4(XDH):c.3774+15G>A SNV
Germline
Chr2:31339474 Conflicting classifications of pathogenicity Hereditary xanthinuria type 1
Xanthinuria type II
Criteria Provided
Conflicting Classifications
CA1598274 rs_202125003

2 SubmittersRCV001142400RCV001419800

NM_000379.4(XDH):c.1856+10A>G SNV
Germline
Chr2:31372218 Conflicting classifications of pathogenicity Hereditary xanthinuria type 1
XDH-related disorder
Xanthinuria type II
Criteria Provided
Conflicting Classifications
CA1599062 rs_372889724

3 SubmittersRCV001142627RCV003953521RCV005093631

NM_000379.4(XDH):c.1132+11T>C SNV
Germline
Chr2:31381622 Conflicting classifications of pathogenicity Hereditary xanthinuria type 1
Xanthinuria type II
Criteria Provided
Conflicting Classifications
CA1599341 rs_372322137

2 SubmittersRCV001140885RCV002070691

NM_000379.4(XDH):c.1038+7C>T SNV
Germline
Chr2:31382994 Conflicting classifications of pathogenicity Hereditary xanthinuria type 1
Xanthinuria type II
Criteria Provided
Conflicting Classifications
CA1599390 rs_373596387

2 SubmittersRCV001142738RCV002070710

NM_000379.4(XDH):c.495+15C>T SNV
Germline
Chr2:31397653 Conflicting classifications of pathogenicity Hereditary xanthinuria type 1
Xanthinuria type II
Criteria Provided
Conflicting Classifications
CA1599611 rs_183572308

2 SubmittersRCV001138408RCV001517873

NM_000379.4(XDH):c.3887G>A (p.Arg1296Gln) SNV
Germline
Chr2:31337705 Conflicting classifications of pathogenicity Xanthinuria type II
Hereditary xanthinuria type 1
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA1598226 rs_139691722

3 SubmittersRCV001238381RCV002499391RCV002563915

NM_017947.4(MOCOS):c.300-1G>C SNV
Germline
Chr18:36199682 Likely pathogenic Xanthinuria type II Criteria Provided
Single Submitter
CA8940396 rs_138341349

1 SubmittersRCV001238582

NM_017947.4(MOCOS):c.1579C>T (p.Arg527Cys) SNV
Germline
Chr18:36215759 Conflicting classifications of pathogenicity Xanthinuria type II
not specified
Criteria Provided
Conflicting Classifications
CA8940770 rs_200725272

3 SubmittersRCV001297105RCV004036057

NM_000379.4(XDH):c.565-1G>A SNV
Germline
Chr2:31387898 Likely pathogenic Hereditary xanthinuria type 1
Xanthinuria type II
Criteria Provided
Multiple Submitters
No Conflicts
CA44728770 rs_1021978271

2 SubmittersRCV005028165RCV003071300

NM_017947.4(MOCOS):c.1905C>T (p.Cys635=) SNV
Germline
Chr18:36220162 Conflicting classifications of pathogenicity Xanthinuria type II Criteria Provided
Conflicting Classifications
CA298667543 rs_910676616

2 SubmittersRCV001395802

NM_017947.4(MOCOS):c.1335+1G>T SNV
Unknown
Chr18:36213483 Likely pathogenic Xanthinuria type II Criteria Provided
Single Submitter
CA402219718 rs_1318625944

1 SubmittersRCV001535959

NM_017947.4(MOCOS):c.2164+2T>C SNV
Germline
Chr18:36251285 Likely pathogenic Xanthinuria type II Criteria Provided
Multiple Submitters
No Conflicts
CA402226353 rs_1164875023

2 SubmittersRCV001535868

NM_000379.4(XDH):c.3052-2A>G SNV
Germline
Chr2:31348365 Likely pathogenic Xanthinuria type II Criteria Provided
Single Submitter
CA346499607 rs_2148755274

1 SubmittersRCV001990585

NM_000379.4(XDH):c.2164A>T (p.Lys722Ter) SNV
Germline
Chr2:31367994 Pathogenic Xanthinuria type II
Hereditary xanthinuria type 1
Criteria Provided
Multiple Submitters
No Conflicts
CA44732961 rs_72549367

2 SubmittersRCV001894883RCV002503437

NM_000379.4(XDH):c.598G>T (p.Glu200Ter) SNV
Germline
Chr2:31387864 Pathogenic Xanthinuria type II Criteria Provided
Single Submitter
CA346497611 rs_2147994449

1 SubmittersRCV001993266

NM_000379.4(XDH):c.651+1G>A SNV
Germline
Chr2:31387810 Likely pathogenic Xanthinuria type II Criteria Provided
Single Submitter
CA1599546 rs_764196019

1 SubmittersRCV002016721

NM_000379.4(XDH):c.887-1G>A SNV
Germline
Chr2:31383153 Likely pathogenic Xanthinuria type II Criteria Provided
Single Submitter
CA346509449 rs_1383065231

1 SubmittersRCV002043379

NM_017947.4(MOCOS):c.1118G>A (p.Arg373Gln) SNV
Germline
Chr18:36205176 Conflicting classifications of pathogenicity Xanthinuria type II
not specified
Criteria Provided
Conflicting Classifications
CA8940627 rs_144081367

3 SubmittersRCV001909610RCV004042812

NM_000379.4(XDH):c.3920G>A (p.Arg1307His) SNV
Germline
Chr2:31337672 Conflicting classifications of pathogenicity Xanthinuria type II
Inborn genetic diseases
XDH-related disorder
Criteria Provided
Conflicting Classifications
CA1598216 rs_138249576

3 SubmittersRCV002206987RCV004681431RCV003968792

NM_000379.4(XDH):c.2457-2A>G SNV
Germline
Chr2:31365546 Likely pathogenic Xanthinuria type II Criteria Provided
Single Submitter
CA346503808 rs_1408237135

1 SubmittersRCV003053054

NM_000379.4(XDH):c.751C>T (p.Gln251Ter) SNV
Germline
Chr2:31386456 Pathogenic/Likely pathogenic Xanthinuria type II
Hereditary xanthinuria type 1
Criteria Provided
Multiple Submitters
No Conflicts
CA346496487 rs_1463907198

2 SubmittersRCV003110849RCV003485837

NM_017947.4(MOCOS):c.2376G>A (p.Trp792Ter) SNV
Germline
Chr18:36260142 Pathogenic Xanthinuria type II Criteria Provided
Single Submitter
CA402291131 rs_2510984970

1 SubmittersRCV002834993

NM_017947.4(MOCOS):c.1218+1G>C SNV
Germline
Chr18:36205277 Likely pathogenic Xanthinuria type II Criteria Provided
Multiple Submitters
No Conflicts
CA402218293 rs_1362463869

3 SubmittersRCV002949628

NM_017947.4(MOCOS):c.1809G>A (p.Trp603Ter) SNV
Germline
Chr18:36220066 Pathogenic Xanthinuria type II Criteria Provided
Single Submitter
CA402223578 rs_1699077839

1 SubmittersRCV002996215

NM_017947.4(MOCOS):c.2402G>A (p.Arg801His) SNV
Germline
Chr18:36260168 Conflicting classifications of pathogenicity Xanthinuria type II
not specified
Criteria Provided
Conflicting Classifications
CA8941034 rs_768710712

2 SubmittersRCV005028335RCV004072762

NM_017947.4(MOCOS):c.2287G>T (p.Glu763Ter) SNV
Germline
Chr18:36260053 Likely pathogenic Xanthinuria type II
MOCOS-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA402290933 rs_2510984845

2 SubmittersRCV005021948RCV003400310

NM_000379.4(XDH):c.100+15G>C SNV
Germline
Chr2:31405892 Conflicting classifications of pathogenicity Xanthinuria type II
Hereditary xanthinuria type 1
Criteria Provided
Conflicting Classifications
CA44734489 rs_913461789

2 SubmittersRCV003593077RCV005036872

NM_000379.4(XDH):c.2473C>T (p.Arg825Ter) SNV
Germline
Chr2:31365528 Pathogenic Xanthinuria type II
Hereditary xanthinuria type 1
Criteria Provided
Multiple Submitters
No Conflicts
CA1598796 rs_748879270

2 SubmittersRCV003593200RCV005014758

NM_000379.4(XDH):c.3768A>T (p.Ala1256=) SNV
Germline
Chr2:31339495 Conflicting classifications of pathogenicity Xanthinuria type II
Hereditary xanthinuria type 1
Criteria Provided
Conflicting Classifications
CA1598281 rs_372550886

2 SubmittersRCV003593201RCV005030102

NM_000379.4(XDH):c.575C>A (p.Ser192Ter) SNV
Germline
Chr2:31387887 Pathogenic Xanthinuria type II Criteria Provided
Single Submitter
CA44728755 rs_866837583

1 SubmittersRCV003591310

NM_000379.4(XDH):c.547C>T (p.Gln183Ter) SNV
Germline
Chr2:31388244 Pathogenic Xanthinuria type II Criteria Provided
Single Submitter
CA346497839 rs_2465407485

1 SubmittersRCV003755982

NM_017947.4(MOCOS):c.232+1G>A SNV
Germline
Chr18:36195347 Likely pathogenic Xanthinuria type II Criteria Provided
Multiple Submitters
No Conflicts
CA402210367 rs_2511387782

2 SubmittersRCV003756398

NM_017947.4(MOCOS):c.2271-1G>A SNV
Germline
Chr18:36260036 Likely pathogenic Xanthinuria type II Criteria Provided
Single Submitter
CA402290891 rs_1262090219

1 SubmittersRCV003990923

NM_017947.4(MOCOS):c.1546C>T (p.Gln516Ter) SNV
Germline
Chr18:36215726 Likely pathogenic Xanthinuria type II Criteria Provided
Single Submitter

2 SubmittersRCV004813395

NM_017947.4(MOCOS):c.124G>T (p.Glu42Ter) SNV
Germline
Chr18:36187663 Likely pathogenic Xanthinuria type II Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005022878

NM_017947.4(MOCOS):c.196G>T (p.Glu66Ter) SNV
Germline
Chr18:36195310 Likely pathogenic Xanthinuria type II Criteria Provided
Single Submitter

1 SubmittersRCV005022880

NM_017947.4(MOCOS):c.843G>A (p.Ala281=) SNV
Germline
Chr18:36200226 Conflicting classifications of pathogenicity Xanthinuria type II Criteria Provided
Conflicting Classifications

2 SubmittersRCV005026209

NM_017947.4(MOCOS):c.942-1G>T SNV
Germline
Chr18:36203112 Likely pathogenic Xanthinuria type II Criteria Provided
Single Submitter

1 SubmittersRCV005026211

NM_017947.4(MOCOS):c.1488G>A (p.Trp496Ter) SNV
Germline
Chr18:36215668 Likely pathogenic Xanthinuria type II Criteria Provided
Single Submitter

1 SubmittersRCV005026236

NM_017947.4(MOCOS):c.1634C>A (p.Ser545Ter) SNV
Germline
Chr18:36215814 Likely pathogenic Xanthinuria type II Criteria Provided
Single Submitter

1 SubmittersRCV005026242

NM_017947.4(MOCOS):c.1771C>T (p.Pro591Ser) SNV
Germline
Chr18:36215951 Likely pathogenic Xanthinuria type II Criteria Provided
Single Submitter

1 SubmittersRCV005026248

NM_017947.4(MOCOS):c.143-2A>T SNV
Germline
Chr18:36195255 Likely pathogenic Xanthinuria type II Criteria Provided
Single Submitter

1 SubmittersRCV005133822

NM_000548.5(TSC2):c.4511T>C (p.Leu1504Pro) SNV
Germline
Chr16:2084968 Pathogenic Xanthinuria type II Criteria Provided
Single Submitter

1 SubmittersRCV005407448