Total 173 pathogenic variants reported for Schimke immuno-osseous dysplasia 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_014140.4(SMARCAL1):c.2542G>T (p.Glu848Ter) SNV
Germline
Chr2:216478216 Pathogenic Schimke immuno-osseous dysplasia
9 conditions
Nephrotic syndrome
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA253017 rs_119473033

13 SubmittersRCV000004388RCV000415311RCV001849255RCV002472924

NM_014140.4(SMARCAL1):c.49C>T (p.Arg17Ter) SNV
Germline
Chr2:216414753 Pathogenic Schimke immuno-osseous dysplasia Criteria Provided
Multiple Submitters
No Conflicts
CA253020 rs_119473034

4 SubmittersRCV000004389

NM_014140.4(SMARCAL1):c.100C>T (p.Gln34Ter) SNV
Germline
Chr2:216414804 Pathogenic Schimke immuno-osseous dysplasia Criteria Provided
Single Submitter
CA253023 rs_119473035

2 SubmittersRCV000004390

NM_014140.4(SMARCAL1):c.1643T>A (p.Ile548Asn) SNV
Germline
Chr2:216435495 Pathogenic Schimke immuno-osseous dysplasia No Assertion Criteria Provided
CA253026 rs_119473036

1 SubmittersRCV000004391

NM_014140.4(SMARCAL1):c.1933C>T (p.Arg645Cys) SNV
Germline
Chr2:216450927 Pathogenic Schimke immuno-osseous dysplasia Criteria Provided
Single Submitter
CA253029 rs_119473037

2 SubmittersRCV000004392

NM_014140.4(SMARCAL1):c.1756C>T (p.Arg586Trp) SNV
Germline
Chr2:216447063 Conflicting classifications of pathogenicity Schimke immuno-osseous dysplasia
Nephrotic syndrome
Criteria Provided
Conflicting Classifications
CA253032 rs_119473038

4 SubmittersRCV000004393RCV001849256

NM_014140.4(SMARCAL1):c.2291G>A (p.Arg764Gln) SNV
Germline
Chr2:216475315 Pathogenic Schimke immuno-osseous dysplasia Criteria Provided
Single Submitter
CA253035 rs_267607071

2 SubmittersRCV000004395

NM_014140.4(SMARCAL1):c.675G>A (p.Lys225=) SNV
Germline
Chr2:216415379 Conflicting classifications of pathogenicity Condition: not provided
Schimke immuno-osseous dysplasia
Criteria Provided
Conflicting Classifications
CA243406 rs_751534116

3 SubmittersRCV000177275RCV001396263

NM_014140.4(SMARCAL1):c.340C>G (p.Arg114Gly) SNV
Germline
Chr2:216415044 Conflicting classifications of pathogenicity Condition: not provided
Schimke immuno-osseous dysplasia
Criteria Provided
Conflicting Classifications
CA243409 rs_202031614

3 SubmittersRCV000177276RCV001088116

NM_014140.4(SMARCAL1):c.962G>A (p.Gly321Asp) SNV
Germline
Chr2:216420398 Conflicting classifications of pathogenicity Condition: not provided
Schimke immuno-osseous dysplasia
SMARCAL1-related disorder
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA246129 rs_148752234

5 SubmittersRCV000178929RCV001080195RCV003907622RCV004020134

NM_014140.4(SMARCAL1):c.1132G>T (p.Glu378Ter) SNV
Germline
Chr2:216423668 Pathogenic Schimke immuno-osseous dysplasia Criteria Provided
Single Submitter
CA339626 rs_864309531

1 SubmittersRCV000202608

NM_014140.4(SMARCAL1):c.1485+10C>T SNV
Germline
Chr2:216432878 Conflicting classifications of pathogenicity Condition: not provided
Schimke immuno-osseous dysplasia
Criteria Provided
Conflicting Classifications
CA10603877 rs_886042157

2 SubmittersRCV000363313RCV001482845

NM_014140.4(SMARCAL1):c.1001G>A (p.Arg334Gln) SNV
Germline
Chr2:216420437 Conflicting classifications of pathogenicity Condition: not provided
Schimke immuno-osseous dysplasia
Criteria Provided
Conflicting Classifications
CA2097754 rs_138575228

3 SubmittersRCV000342892RCV000765601

NM_014140.4(SMARCAL1):c.2765T>C (p.Met922Thr) SNV
Germline
Chr2:216482877 Conflicting classifications of pathogenicity Condition: not provided
Schimke immuno-osseous dysplasia
Criteria Provided
Conflicting Classifications
CA2098300 rs_200431186

3 SubmittersRCV000319671RCV001242768

NM_014140.4(SMARCAL1):c.2778G>A (p.Leu926=) SNV
Germline
Chr2:216482890 Conflicting classifications of pathogenicity Condition: not provided
Schimke immuno-osseous dysplasia
SMARCAL1-related disorder
Criteria Provided
Conflicting Classifications
CA2098302 rs_373335368

3 SubmittersRCV000360943RCV001440909RCV003909931

NM_014140.4(SMARCAL1):c.2340C>T (p.Ala780=) SNV
Germline
Chr2:216475364 Conflicting classifications of pathogenicity Condition: not provided
Schimke immuno-osseous dysplasia
Criteria Provided
Conflicting Classifications
CA2098179 rs_780778758

3 SubmittersRCV000373353RCV001079064

NM_014140.4(SMARCAL1):c.1271A>T (p.Asp424Val) SNV
Germline
Chr2:216428719 Conflicting classifications of pathogenicity Schimke immuno-osseous dysplasia
not specified
Condition: not provided
SMARCAL1-related disorder
Kidney disorder
Criteria Provided
Conflicting Classifications
CA2097824 rs_2066520

11 SubmittersRCV000262629RCV000397091RCV001573671RCV003930074RCV002294215

NM_014140.4(SMARCAL1):c.2528+5G>C SNV
Germline
Chr2:216477214 Conflicting classifications of pathogenicity Condition: not provided
Schimke immuno-osseous dysplasia
Focal segmental glomerulosclerosis
SMARCAL1-related disorder
Criteria Provided
Conflicting Classifications
CA2098222 rs_145908212

5 SubmittersRCV000380004RCV001083997RCV002294217RCV003409414

NM_014140.4(SMARCAL1):c.2322G>A (p.Ser774=) SNV
Germline
Chr2:216475346 Conflicting classifications of pathogenicity Condition: not provided
Schimke immuno-osseous dysplasia
SMARCAL1-related disorder
Criteria Provided
Conflicting Classifications
CA2098176 rs_139445683

4 SubmittersRCV000296065RCV001080721RCV003940048

NM_014140.4(SMARCAL1):c.2745T>C (p.Ser915=) SNV
Germline
Chr2:216482857 Conflicting classifications of pathogenicity Condition: not provided
Schimke immuno-osseous dysplasia
Criteria Provided
Conflicting Classifications
CA10606281 rs_886044051

2 SubmittersRCV000359105RCV003611509

NM_014140.4(SMARCAL1):c.1251G>A (p.Thr417=) SNV
Germline
Chr2:216428699 Conflicting classifications of pathogenicity Schimke immuno-osseous dysplasia Criteria Provided
Conflicting Classifications
CA2097822 rs_372331472

2 SubmittersRCV000357351

NM_014140.4(SMARCAL1):c.2528+15G>A SNV
Germline
Chr2:216477224 Conflicting classifications of pathogenicity Schimke immuno-osseous dysplasia Criteria Provided
Conflicting Classifications
CA2098225 rs_200879397

2 SubmittersRCV000383949

NM_014140.4(SMARCAL1):c.812-15T>C SNV
Germline
Chr2:216416242 Conflicting classifications of pathogenicity Schimke immuno-osseous dysplasia Criteria Provided
Conflicting Classifications
CA2097692 rs_375588610

2 SubmittersRCV000310004

NM_014140.4(SMARCAL1):c.1196C>T (p.Thr399Met) SNV
Germline
Chr2:216428644 Conflicting classifications of pathogenicity Schimke immuno-osseous dysplasia
Condition: not provided
SMARCAL1-related disorder
See cases
Criteria Provided
Conflicting Classifications
CA2097812 rs_139872089

12 SubmittersRCV000302549RCV000594612RCV003912407RCV004584212

NM_014140.4(SMARCAL1):c.1485+8G>A SNV
Germline
Chr2:216432876 Conflicting classifications of pathogenicity Schimke immuno-osseous dysplasia Criteria Provided
Conflicting Classifications
CA10612795 rs_886055617

2 SubmittersRCV000333076

NM_014140.4(SMARCAL1):c.600G>A (p.Ser200=) SNV
Germline
Chr2:216415304 Conflicting classifications of pathogenicity Schimke immuno-osseous dysplasia Criteria Provided
Conflicting Classifications
CA2097619 rs_530505647

2 SubmittersRCV000402266

NM_014140.4(SMARCAL1):c.1413C>T (p.Ile471=) SNV
Germline
Chr2:216432796 Conflicting classifications of pathogenicity Schimke immuno-osseous dysplasia Criteria Provided
Conflicting Classifications
CA2097871 rs_149599324

2 SubmittersRCV000372506

NM_014140.4(SMARCAL1):c.1414G>A (p.Ala472Thr) SNV
Germline
Chr2:216432797 Conflicting classifications of pathogenicity Schimke immuno-osseous dysplasia
SMARCAL1-related disorder
Criteria Provided
Conflicting Classifications
CA2097873 rs_571392819

4 SubmittersRCV000277452RCV003972409

NM_014140.4(SMARCAL1):c.863-9C>G SNV
Germline
Chr2:216420290 Conflicting classifications of pathogenicity Schimke immuno-osseous dysplasia
Condition: not provided
SMARCAL1-related disorder
Criteria Provided
Conflicting Classifications
CA2097728 rs_188833040

5 SubmittersRCV000346127RCV000729632RCV003950152

NM_014140.4(SMARCAL1):c.1147+8G>A SNV
Germline
Chr2:216423691 Conflicting classifications of pathogenicity Schimke immuno-osseous dysplasia
SMARCAL1-related disorder
Criteria Provided
Conflicting Classifications
CA2097787 rs_759562755

5 SubmittersRCV000266036RCV003950153

NM_014140.4(SMARCAL1):c.1407C>T (p.Ile469=) SNV
Germline
Chr2:216432790 Conflicting classifications of pathogenicity Schimke immuno-osseous dysplasia Criteria Provided
Conflicting Classifications
CA2097869 rs_750621192

2 SubmittersRCV000317821

NM_014140.4(SMARCAL1):c.723C>A (p.Cys241Ter) SNV
Germline
Chr2:216415427 Pathogenic 9 conditions
Schimke immuno-osseous dysplasia
Criteria Provided
Multiple Submitters
No Conflicts
CA16043385 rs_748106387

2 SubmittersRCV000414912RCV001196355

NM_014140.4(SMARCAL1):c.1727T>C (p.Ile576Thr) SNV
Germline
Chr2:216447034 Conflicting classifications of pathogenicity Condition: not provided
Schimke immuno-osseous dysplasia
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA2097993 rs_138819354

4 SubmittersRCV000489879RCV000814798RCV002526018

NM_014140.4(SMARCAL1):c.1851+5G>A SNV
Germline
Chr2:216447163 Conflicting classifications of pathogenicity Schimke immuno-osseous dysplasia
Condition: not provided
SMARCAL1-related disorder
Criteria Provided
Conflicting Classifications
CA2098018 rs_2066514

5 SubmittersRCV000544902RCV000593130RCV003960300

NM_014140.4(SMARCAL1):c.2321C>A (p.Ser774Ter) SNV
Germline
Chr2:216475345 Pathogenic Schimke immuno-osseous dysplasia Criteria Provided
Single Submitter
CA2098174 rs_149425324

1 SubmittersRCV000524685

NM_014140.4(SMARCAL1):c.2290C>T (p.Arg764Trp) SNV
Germline
Chr2:216475314 Conflicting classifications of pathogenicity Schimke immuno-osseous dysplasia
Nephrotic syndrome
Criteria Provided
Conflicting Classifications
CA350503975 rs_1480919035

3 SubmittersRCV000586742RCV001849404

NM_014140.4(SMARCAL1):c.2570G>A (p.Gly857Glu) SNV
Unknown
Chr2:216478244 Likely pathogenic Schimke immuno-osseous dysplasia No Assertion Criteria Provided
CA350504978 rs_1553535161

1 SubmittersRCV000590927

NM_014140.4(SMARCAL1):c.927C>T (p.Ser309=) SNV
Germline
Chr2:216420363 Conflicting classifications of pathogenicity Condition: not provided
Schimke immuno-osseous dysplasia
SMARCAL1-related disorder
Criteria Provided
Conflicting Classifications
CA2097739 rs_139949668

6 SubmittersRCV000597095RCV001085317RCV003962664

NM_014140.4(SMARCAL1):c.114G>T (p.Ser38=) SNV
Germline
Chr2:216414818 Conflicting classifications of pathogenicity Condition: not provided
Schimke immuno-osseous dysplasia
Criteria Provided
Conflicting Classifications
CA431402393 rs_374642503

2 SubmittersRCV000595390RCV002062048

NM_014140.4(SMARCAL1):c.2427+9C>T SNV
Germline
Chr2:216475460 Conflicting classifications of pathogenicity Condition: not provided
Schimke immuno-osseous dysplasia
Criteria Provided
Conflicting Classifications
CA2098192 rs_201601053

3 SubmittersRCV000598419RCV001088206

NM_014140.4(SMARCAL1):c.1483C>T (p.Gln495Ter) SNV
Germline
Chr2:216432866 Pathogenic/Likely pathogenic Condition: not provided
Schimke immuno-osseous dysplasia
Criteria Provided
Multiple Submitters
No Conflicts
CA350500275 rs_1553526228

2 SubmittersRCV000599374RCV002498879

NM_014140.4(SMARCAL1):c.2641A>C (p.Lys881Gln) SNV
Germline
Chr2:216482753 Conflicting classifications of pathogenicity Schimke immuno-osseous dysplasia
SMARCAL1-related disorder
Criteria Provided
Conflicting Classifications
CA2098275 rs_190386780

4 SubmittersRCV000638572RCV003945610

NM_014140.4(SMARCAL1):c.836T>C (p.Phe279Ser) SNV
Germline
Chr2:216416281 Likely pathogenic Schimke immuno-osseous dysplasia
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
rs_775057827

7 SubmittersRCV000820460RCV000681816

NM_014140.4(SMARCAL1):c.863-2A>G SNV
Germline
Chr2:216420297 Pathogenic Condition: not provided
Schimke immuno-osseous dysplasia
SMARCAL1-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
rs_761546902

5 SubmittersRCV000681817RCV000797448RCV003420206

NM_014140.4(SMARCAL1):c.2427+1G>A SNV
Germline
Chr2:216475452 Likely pathogenic Schimke immuno-osseous dysplasia Criteria Provided
Single Submitter
rs_1559138455

3 SubmittersRCV000735766

NM_014140.4(SMARCAL1):c.2114C>T (p.Thr705Ile) SNV
Germline
Chr2:216464640 Conflicting classifications of pathogenicity Schimke immuno-osseous dysplasia
Inherited Immunodeficiency Diseases
Condition: not provided
SMARCAL1-related disorder
Criteria Provided
Conflicting Classifications
rs_200644381

6 SubmittersRCV000778915RCV001027620RCV001592958RCV003413568

NM_014140.4(SMARCAL1):c.1534G>A (p.Val512Met) SNV
Germline
Chr2:216435386 Conflicting classifications of pathogenicity Schimke immuno-osseous dysplasia
Kidney disorder
Criteria Provided
Conflicting Classifications
rs_35087810

3 SubmittersRCV000973816RCV002294429

NM_014140.4(SMARCAL1):c.1776G>A (p.Thr592=) SNV
Germline
Chr2:216447083 Conflicting classifications of pathogenicity Schimke immuno-osseous dysplasia
Focal segmental glomerulosclerosis
Criteria Provided
Conflicting Classifications
rs_372995559

4 SubmittersRCV000973914RCV002294430

NM_014140.4(SMARCAL1):c.1785C>T (p.Ile595=) SNV
Germline
Chr2:216447092 Conflicting classifications of pathogenicity Schimke immuno-osseous dysplasia Criteria Provided
Conflicting Classifications
rs_145825654

3 SubmittersRCV000899594

NM_014140.4(SMARCAL1):c.1944C>T (p.Ser648=) SNV
Germline
Chr2:216450938 Conflicting classifications of pathogenicity Schimke immuno-osseous dysplasia Criteria Provided
Conflicting Classifications
rs_752241342

2 SubmittersRCV001139740

NM_014140.4(SMARCAL1):c.2459G>A (p.Arg820His) SNV
Germline
Chr2:216477140 Pathogenic/Likely pathogenic Inherited Immunodeficiency Diseases
Condition: not provided
Schimke immuno-osseous dysplasia
Criteria Provided
Multiple Submitters
No Conflicts
rs_200666300

5 SubmittersRCV001027621RCV001269553RCV001040718

NM_014140.4(SMARCAL1):c.1439C>T (p.Pro480Leu) SNV
Germline
Chr2:216432822 Conflicting classifications of pathogenicity Schimke immuno-osseous dysplasia Criteria Provided
Conflicting Classifications
rs_758367100

2 SubmittersRCV001059601

NM_014140.4(SMARCAL1):c.1644+1G>T SNV
Germline
Chr2:216435497 Likely pathogenic Schimke immuno-osseous dysplasia Criteria Provided
Single Submitter
rs_1694062061

1 SubmittersRCV001054627

NM_014140.4(SMARCAL1):c.2141+1G>A SNV
Germline
Chr2:216464668 Likely pathogenic Schimke immuno-osseous dysplasia Criteria Provided
Single Submitter
rs_1694789584

1 SubmittersRCV001035735

NM_014140.4(SMARCAL1):c.961G>A (p.Gly321Ser) SNV
Germline
Chr2:216420397 Conflicting classifications of pathogenicity Schimke immuno-osseous dysplasia
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
rs_371378288

4 SubmittersRCV001142273RCV004032720

NM_014140.4(SMARCAL1):c.2295G>A (p.Glu765=) SNV
Germline
Chr2:216475319 Conflicting classifications of pathogenicity Schimke immuno-osseous dysplasia Criteria Provided
Conflicting Classifications
rs_1301876154

2 SubmittersRCV001139741

NM_014140.4(SMARCAL1):c.2316A>G (p.Gln772=) SNV
Germline
Chr2:216475340 Conflicting classifications of pathogenicity Schimke immuno-osseous dysplasia Criteria Provided
Conflicting Classifications
rs_1322248626

2 SubmittersRCV001140520

NM_014140.4(SMARCAL1):c.863-4G>T SNV
Germline
Chr2:216420295 Conflicting classifications of pathogenicity Schimke immuno-osseous dysplasia Criteria Provided
Conflicting Classifications
rs_1693689203

2 SubmittersRCV001140411

NM_014140.4(SMARCAL1):c.1687C>T (p.Arg563Ter) SNV
Germline
Chr2:216438462 Pathogenic/Likely pathogenic Schimke immuno-osseous dysplasia Criteria Provided
Multiple Submitters
No Conflicts
rs_1694125419

3 SubmittersRCV001207503

NM_014140.4(SMARCAL1):c.1736C>T (p.Ser579Leu) SNV
Germline
Chr2:216447043 Pathogenic/Likely pathogenic Schimke immuno-osseous dysplasia Criteria Provided
Multiple Submitters
No Conflicts
rs_1694331040

2 SubmittersRCV001216644

NM_014140.4(SMARCAL1):c.1402G>C (p.Ala468Pro) SNV
Germline
Chr2:216432785 Likely pathogenic Schimke immuno-osseous dysplasia Criteria Provided
Single Submitter
rs_1693994454

1 SubmittersRCV001209657

NM_014140.4(SMARCAL1):c.445C>T (p.Gln149Ter) SNV
Germline
Chr2:216415149 Pathogenic Schimke immuno-osseous dysplasia Criteria Provided
Single Submitter
rs_1264577481

1 SubmittersRCV001242020

NM_014140.4(SMARCAL1):c.1499G>A (p.Trp500Ter) SNV
Germline
Chr2:216435351 Pathogenic Condition: not provided
Schimke immuno-osseous dysplasia
Criteria Provided
Multiple Submitters
No Conflicts
rs_1694058443

2 SubmittersRCV001255431RCV003502592

NM_014140.4(SMARCAL1):c.1930C>T (p.Arg644Trp) SNV
Germline
Chr2:216450924 Pathogenic/Likely pathogenic Schimke immuno-osseous dysplasia Criteria Provided
Multiple Submitters
No Conflicts
rs_1313658611

3 SubmittersRCV001280866

NM_014140.4(SMARCAL1):c.448G>T (p.Ala150Ser) SNV
Germline
Chr2:216415152 Conflicting classifications of pathogenicity Schimke immuno-osseous dysplasia
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
rs_376295895

3 SubmittersRCV001306752RCV002543177

NM_014140.4(SMARCAL1):c.1645-2A>G SNV
Germline
Chr2:216438418 Likely pathogenic Schimke immuno-osseous dysplasia Criteria Provided
Single Submitter
rs_2106040403

1 SubmittersRCV001377657

NM_014140.4(SMARCAL1):c.409C>T (p.Gln137Ter) SNV
Germline
Chr2:216415113 Pathogenic Schimke immuno-osseous dysplasia Criteria Provided
Single Submitter
rs_1271242899

1 SubmittersRCV001387850

NM_014140.4(SMARCAL1):c.1000C>T (p.Arg334Ter) SNV
Germline
Chr2:216420436 Pathogenic Schimke immuno-osseous dysplasia Criteria Provided
Single Submitter
rs_758888999

2 SubmittersRCV001386132

NM_014140.4(SMARCAL1):c.1934G>A (p.Arg645His) SNV
Germline
Chr2:216450928 Pathogenic/Likely pathogenic Schimke immuno-osseous dysplasia Criteria Provided
Multiple Submitters
No Conflicts
rs_1281345070

3 SubmittersRCV001783781

NM_014140.4(SMARCAL1):c.1485+1G>A SNV
Germline
Chr2:216432869 Likely pathogenic Schimke immuno-osseous dysplasia Criteria Provided
Single Submitter
rs_772028268

1 SubmittersRCV002036489

NM_014140.4(SMARCAL1):c.1399C>T (p.Gln467Ter) SNV
Germline
Chr2:216432782 Pathogenic Schimke immuno-osseous dysplasia Criteria Provided
Single Submitter
rs_2106033603

1 SubmittersRCV001904405

NM_014140.4(SMARCAL1):c.1222C>T (p.Gln408Ter) SNV
Germline
Chr2:216428670 Pathogenic Schimke immuno-osseous dysplasia Criteria Provided
Single Submitter
rs_2106029186

1 SubmittersRCV001950832

NM_014140.4(SMARCAL1):c.1931G>A (p.Arg644Gln) SNV
Germline
Chr2:216450925 Pathogenic Schimke immuno-osseous dysplasia Criteria Provided
Single Submitter
rs_140515579

1 SubmittersRCV001949297

NM_014140.4(SMARCAL1):c.2141+5G>A SNV
Germline
Chr2:216464672 Pathogenic Schimke immuno-osseous dysplasia Criteria Provided
Single Submitter
rs_2106073127

1 SubmittersRCV001977049

NM_014140.4(SMARCAL1):c.1859G>A (p.Trp620Ter) SNV
Germline
Chr2:216450853 Pathogenic Schimke immuno-osseous dysplasia Criteria Provided
Single Submitter
rs_1294139623

1 SubmittersRCV002037907

NM_014140.4(SMARCAL1):c.1612C>T (p.Gln538Ter) SNV
Germline
Chr2:216435464 Pathogenic Schimke immuno-osseous dysplasia Criteria Provided
Single Submitter
rs_571627974

1 SubmittersRCV001941590

NM_014140.4(SMARCAL1):c.416T>A (p.Leu139Ter) SNV
Germline
Chr2:216415120 Pathogenic Schimke immuno-osseous dysplasia Criteria Provided
Single Submitter
rs_2106014776

1 SubmittersRCV001928145

NM_014140.4(SMARCAL1):c.965T>A (p.Leu322His) SNV
Germline
Chr2:216420401 Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis
Schimke immuno-osseous dysplasia
Criteria Provided
Conflicting Classifications

2 SubmittersRCV002294642RCV003097855

NM_014140.4(SMARCAL1):c.353C>G (p.Ala118Gly) SNV
Germline
Chr2:216415057 Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis
Schimke immuno-osseous dysplasia
Criteria Provided
Conflicting Classifications

2 SubmittersRCV002294659RCV003101702

NM_014140.4(SMARCAL1):c.2221A>G (p.Ile741Val) SNV
Germline
Chr2:216468023 Conflicting classifications of pathogenicity Schimke immuno-osseous dysplasia
Inborn genetic diseases
Criteria Provided
Conflicting Classifications

2 SubmittersRCV003068383RCV003068384

NM_014140.4(SMARCAL1):c.340C>T (p.Arg114Cys) SNV
Germline
Chr2:216415044 Conflicting classifications of pathogenicity Schimke immuno-osseous dysplasia
SMARCAL1-related disorder
Inborn genetic diseases
Criteria Provided
Conflicting Classifications

3 SubmittersRCV003065284RCV003418734RCV004070390

NM_014140.4(SMARCAL1):c.955C>T (p.Gln319Ter) SNV
Germline
Chr2:216420391 Pathogenic Schimke immuno-osseous dysplasia Criteria Provided
Single Submitter

1 SubmittersRCV002651604

NM_014140.4(SMARCAL1):c.2449C>T (p.Arg817Cys) SNV
Germline
Chr2:216477130 Conflicting classifications of pathogenicity Schimke immuno-osseous dysplasia
Condition: not provided
Criteria Provided
Conflicting Classifications

2 SubmittersRCV002651605RCV003236952

NM_014140.4(SMARCAL1):c.926G>A (p.Ser309Asn) SNV
Germline
Chr2:216420362 Conflicting classifications of pathogenicity Schimke immuno-osseous dysplasia
Inborn genetic diseases
Criteria Provided
Conflicting Classifications

2 SubmittersRCV002637706RCV003341516

NM_014140.4(SMARCAL1):c.1682G>A (p.Arg561His) SNV
Germline
Chr2:216438457 Pathogenic Schimke immuno-osseous dysplasia Criteria Provided
Single Submitter

1 SubmittersRCV002648045

NM_014140.4(SMARCAL1):c.2528+1G>A SNV
Germline
Chr2:216477210 Pathogenic Schimke immuno-osseous dysplasia Criteria Provided
Single Submitter

1 SubmittersRCV002635286

NM_014140.4(SMARCAL1):c.1836C>A (p.Tyr612Ter) SNV
Germline
Chr2:216447143 Pathogenic Schimke immuno-osseous dysplasia Criteria Provided
Single Submitter

1 SubmittersRCV002824156

NM_014140.4(SMARCAL1):c.2244+1G>A SNV
Germline
Chr2:216468047 Likely pathogenic Schimke immuno-osseous dysplasia Criteria Provided
Single Submitter

1 SubmittersRCV002811899

NM_014140.4(SMARCAL1):c.667C>T (p.Gln223Ter) SNV
Germline
Chr2:216415371 Pathogenic Schimke immuno-osseous dysplasia Criteria Provided
Single Submitter

1 SubmittersRCV002857027

NM_014140.4(SMARCAL1):c.769G>T (p.Glu257Ter) SNV
Germline
Chr2:216415473 Pathogenic Schimke immuno-osseous dysplasia Criteria Provided
Single Submitter

1 SubmittersRCV002889589

NM_014140.4(SMARCAL1):c.1147+2T>G SNV
Germline
Chr2:216423685 Likely pathogenic Schimke immuno-osseous dysplasia Criteria Provided
Single Submitter

1 SubmittersRCV002932737

NM_014140.4(SMARCAL1):c.382C>T (p.Gln128Ter) SNV
Germline
Chr2:216415086 Pathogenic Schimke immuno-osseous dysplasia Criteria Provided
Single Submitter

1 SubmittersRCV003046195

NM_014140.4(SMARCAL1):c.1866G>A (p.Trp622Ter) SNV
Germline
Chr2:216450860 Pathogenic Schimke immuno-osseous dysplasia Criteria Provided
Single Submitter

1 SubmittersRCV003034014

NM_014140.4(SMARCAL1):c.1810C>T (p.Gln604Ter) SNV
Germline
Chr2:216447117 Pathogenic Schimke immuno-osseous dysplasia No Assertion Criteria Provided

1 SubmittersRCV003156047

NM_014140.4(SMARCAL1):c.2020A>T (p.Arg674Ter) SNV
Germline
Chr2:216451014 Pathogenic Schimke immuno-osseous dysplasia Criteria Provided
Single Submitter

1 SubmittersRCV003504340

NM_014140.4(SMARCAL1):c.1334+1G>A SNV
Germline
Chr2:216428783 Likely pathogenic Schimke immuno-osseous dysplasia Criteria Provided
Single Submitter

1 SubmittersRCV003504521

NM_014140.4(SMARCAL1):c.1860G>A (p.Trp620Ter) SNV
Germline
Chr2:216450854 Pathogenic Schimke immuno-osseous dysplasia Criteria Provided
Single Submitter

1 SubmittersRCV003504523

NM_014140.4(SMARCAL1):c.1874C>G (p.Ser625Ter) SNV
Germline
Chr2:216450868 Pathogenic Schimke immuno-osseous dysplasia Criteria Provided
Single Submitter

1 SubmittersRCV003504524

NM_014140.4(SMARCAL1):c.2308C>T (p.Gln770Ter) SNV
Germline
Chr2:216475332 Pathogenic Schimke immuno-osseous dysplasia Criteria Provided
Single Submitter

1 SubmittersRCV003504525

NM_014140.4(SMARCAL1):c.1051C>T (p.Gln351Ter) SNV
Germline
Chr2:216420487 Pathogenic Schimke immuno-osseous dysplasia Criteria Provided
Single Submitter

1 SubmittersRCV003502247

NM_014140.4(SMARCAL1):c.1147+1G>A SNV
Germline
Chr2:216423684 Likely pathogenic Schimke immuno-osseous dysplasia Criteria Provided
Single Submitter

1 SubmittersRCV003502332

NM_014140.4(SMARCAL1):c.1711-2A>C SNV
Germline
Chr2:216447016 Likely pathogenic Schimke immuno-osseous dysplasia Criteria Provided
Single Submitter

1 SubmittersRCV003503249

NM_014140.4(SMARCAL1):c.1645-2A>T SNV
Germline
Chr2:216438418 Likely pathogenic Schimke immuno-osseous dysplasia Criteria Provided
Single Submitter

1 SubmittersRCV003502435

NM_014140.4(SMARCAL1):c.986C>A (p.Ser329Ter) SNV
Germline
Chr2:216420422 Pathogenic Schimke immuno-osseous dysplasia Criteria Provided
Single Submitter

1 SubmittersRCV003504032

NM_014140.4(SMARCAL1):c.1851+1G>A SNV
Germline
Chr2:216447159 Likely pathogenic Schimke immuno-osseous dysplasia Criteria Provided
Single Submitter

1 SubmittersRCV003503297

NM_014140.4(SMARCAL1):c.2529G>A (p.Trp843Ter) SNV
Germline
Chr2:216478203 Pathogenic Schimke immuno-osseous dysplasia Criteria Provided
Single Submitter

1 SubmittersRCV003503419

NM_014140.4(SMARCAL1):c.1777C>T (p.Gln593Ter) SNV
Germline
Chr2:216447084 Pathogenic Schimke immuno-osseous dysplasia Criteria Provided
Single Submitter

1 SubmittersRCV003612595

NM_014140.4(SMARCAL1):c.2077C>T (p.Gln693Ter) SNV
Germline
Chr2:216464603 Pathogenic Schimke immuno-osseous dysplasia Criteria Provided
Single Submitter

1 SubmittersRCV003612717

NM_014140.4(SMARCAL1):c.812-2A>G SNV
Germline
Chr2:216416255 Likely pathogenic Schimke immuno-osseous dysplasia Criteria Provided
Single Submitter

1 SubmittersRCV003613169

NM_014140.4(SMARCAL1):c.907G>T (p.Glu303Ter) SNV
Germline
Chr2:216420343 Pathogenic Schimke immuno-osseous dysplasia Criteria Provided
Single Submitter

1 SubmittersRCV003613245

NM_014140.4(SMARCAL1):c.1710+2T>C SNV
Germline
Chr2:216438487 Likely pathogenic Schimke immuno-osseous dysplasia Criteria Provided
Single Submitter

1 SubmittersRCV003858109