Total 44 pathogenic variants reported for Shwachman-Diamond syndrome 1 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_016038.4(SBDS):c.258+2T>C SNV
Germline		 Chr7:66994210 Pathogenic/Likely pathogenic Shwachman-Diamond syndrome 1
Aplastic anemia, susceptibility to
Condition: not provided
not specified
Inborn genetic diseases
Microcephaly
Short stature
Agenesis of permanent teeth
Deeply set eye
Splenomegaly
Aplastic anemia
Shwachman-Diamond syndrome 1
Shwachman syndrome
Aplastic anemia
SBDS-related disorder
Cervical cancer
Ovarian cancer
Lymphoma
Ovarian serous cystadenocarcinoma
Thyroid cancer, nonmedullary, 1
Acute myeloid leukemia
Intellectual disability
Uterine corpus endometrial carcinoma
Colon adenocarcinoma
Malignant tumor of urinary bladder
Malignant tumor of esophagus
Fetal anomalies with a likely genetic cause
Familial pancreatic carcinoma
Hepatocellular carcinoma
Nonpapillary renal cell carcinoma
Non-Fanconi anemia cytopenia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA116053 rs_113993993

67 SubmittersRCV000003347RCV000003348RCV000255013RCV000506317RCV000623539RCV000626935RCV000763594RCV001270036RCV002272008RCV003407264RCV005887247RCV005887248RCV005887250RCV005887251RCV005887252RCV005887242RCV005624667RCV005887253RCV005887241RCV005887243RCV005887245RCV006649828RCV005887249RCV005887244RCV005887246RCV006730066
NM_016038.4(SBDS):c.258+1G>C SNV
Germline		 Chr7:66994211 Pathogenic Shwachman-Diamond syndrome 1
Condition: not provided
Shwachman-Diamond syndrome 1
Aplastic anemia
Inborn genetic diseases
Aplastic anemia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA342197 rs_113993992

7 SubmittersRCV000020728RCV000413600RCV000768305RCV002453265RCV003473116
NM_016038.4(SBDS):c.505C>T (p.Arg169Cys) SNV
Germline		 Chr7:66991256 Conflicting classifications of pathogenicity Shwachman-Diamond syndrome 1
Condition: not provided
Aplastic anemia
Shwachman-Diamond syndrome 1
Aplastic anemia		 Criteria Provided
Conflicting Classifications
 CA342201 rs_113993996

6 SubmittersRCV000020731RCV003314555RCV003473118RCV005394169
NM_016038.4(SBDS):c.624+1G>C SNV
Germline		 Chr7:66991136 Pathogenic Shwachman-Diamond syndrome 1
Condition: not provided		 Criteria Provided
Single Submitter
 CA342203 rs_113993997

2 SubmittersRCV000020732RCV001818170
NM_016038.4(SBDS):c.652C>T (p.Arg218Ter) SNV
Germline		 Chr7:66988472 Pathogenic/Likely pathogenic Shwachman-Diamond syndrome 1
Condition: not provided
Aplastic anemia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA342207 rs_113993998

5 SubmittersRCV000020735RCV003125834RCV003315402
NM_016038.4(SBDS):c.98A>C (p.Lys33Thr) SNV
Germline		 Chr7:66995320 Pathogenic/Likely pathogenic Shwachman-Diamond syndrome 1
Aplastic anemia
Inborn genetic diseases		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350654 rs_373730800

3 SubmittersRCV000206645RCV003474976RCV006713306
NM_016038.4(SBDS):c.388G>A (p.Val130Met) SNV
Germline		 Chr7:66993288 Conflicting classifications of pathogenicity Condition: not provided
Shwachman-Diamond syndrome 1
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA4279169 rs_201070132

6 SubmittersRCV000414254RCV000987894RCV004022157
NM_016038.4(SBDS):c.523C>T (p.Arg175Trp) SNV
Germline		 Chr7:66991238 Conflicting classifications of pathogenicity Condition: not provided
Shwachman-Diamond syndrome 1
Aplastic anemia
Aplastic anemia
Shwachman-Diamond syndrome 1		 Criteria Provided
Conflicting Classifications
 CA4279143 rs_774976459

7 SubmittersRCV000484843RCV002063697RCV003476153RCV005252904
NM_016038.4(SBDS):c.41A>G (p.Asn14Ser) SNV
Germline		 Chr7:66995377 Conflicting classifications of pathogenicity Condition: not provided
Shwachman-Diamond syndrome 1
not specified		 Criteria Provided
Conflicting Classifications
 CA4279280 rs_766277488

3 SubmittersRCV000489325RCV005252924RCV006452684
NM_003136.4(SRP54):c.343A>G (p.Thr115Ala) SNV
Germline		 Chr14:35007370 Pathogenic Shwachman-Diamond syndrome 1
Neutropenia, severe congenital, 8, autosomal dominant		 No Assertion Criteria Provided
 CA389439347 rs_1555354200

3 SubmittersRCV000577889RCV000999505
NM_003136.4(SRP54):c.677G>A (p.Gly226Glu) SNV
Germline		 Chr14:35013386 Pathogenic/Likely pathogenic Shwachman-Diamond syndrome 1
Neutropenia, severe congenital, 8, autosomal dominant
Inborn genetic diseases
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA389443030 rs_1555354750

5 SubmittersRCV000577921RCV000999504RCV001266476RCV006463109
NM_016038.4(SBDS):c.184A>T (p.Lys62Ter) SNV
Germline		 Chr7:66994286 Pathogenic/Likely pathogenic Condition: not provided
Splenomegaly
Short stature
Agenesis of permanent teeth
Deeply set eye
Microcephaly
Shwachman-Diamond syndrome 1
Intellectual disability
Inborn genetic diseases
Aplastic anemia
Shwachman-Diamond syndrome 1
Shwachman syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA4279222 rs_120074160

24 SubmittersRCV000523697RCV000626934RCV000987895RCV001293358RCV004023534RCV005034065RCV006636240
NM_016038.4(SBDS):c.167T>C (p.Val56Ala) SNV
Germline		 Chr7:66994303 Likely pathogenic Shwachman-Diamond syndrome 1 Criteria Provided
Single Submitter
 CA367652623 rs_1584437592

1 SubmittersRCV000995633
NM_003135.3(SRP19):c.189+5G>A SNV
Germline		 Chr5:112864533 Pathogenic Shwachman-Diamond syndrome 1
Severe congenital neutropenia		 No Assertion Criteria Provided
 CA562217700 rs_1322282571

1 SubmittersRCV001199429
NM_003139.4(SRPRA):c.1390C>G (p.Gln464Glu) SNV
Germline		 Chr11:126265094 Pathogenic Shwachman-Diamond syndrome 1
Severe congenital neutropenia		 No Assertion Criteria Provided
 CA383223860 rs_1950780024

1 SubmittersRCV001199430
NM_016038.4(SBDS):c.460-1G>A SNV
Germline		 Chr7:66991302 Pathogenic Shwachman-Diamond syndrome 1
Inborn genetic diseases		 Criteria Provided
Single Submitter
 CA367647320 rs_1792969582

2 SubmittersRCV001194601RCV002339490
NM_016038.4(SBDS):c.653G>A (p.Arg218Gln) SNV
Germline		 Chr7:66988471 Pathogenic/Likely pathogenic Shwachman-Diamond syndrome 1
Aplastic anemia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA4279115 rs_757497272

4 SubmittersRCV001797037RCV003475094
NM_016038.4(SBDS):c.629G>A (p.Cys210Tyr) SNV
Germline		 Chr7:66988495 Likely pathogenic Shwachman-Diamond syndrome 1 Criteria Provided
Single Submitter
 CA367644675 rs_2129231218

1 SubmittersRCV001824235
NM_016038.4(SBDS):c.478C>T (p.Gln160Ter) SNV
Germline		 Chr7:66991283 Likely pathogenic Shwachman-Diamond syndrome 1 Criteria Provided
Single Submitter
 CA367647147 rs_1387962158

1 SubmittersRCV003142536
NM_016038.4(SBDS):c.129-3A>G SNV
Germline		 Chr7:66994344 Conflicting classifications of pathogenicity Condition: not provided
Shwachman-Diamond syndrome 1
Melanoma		 Criteria Provided
Conflicting Classifications
 CA4279235 rs_760364037

3 SubmittersRCV003230118RCV005254755RCV005930798
NM_016038.4(SBDS):c.428C>T (p.Ser143Leu) SNV
Germline		 Chr7:66993248 Conflicting classifications of pathogenicity Aplastic anemia
Shwachman-Diamond syndrome 1
not specified		 Criteria Provided
Conflicting Classifications
 CA367649423 rs_1376011266

3 SubmittersRCV003472590RCV005254798RCV006689305
NM_016038.4(SBDS):c.624+1G>A SNV
Germline		 Chr7:66991136 Likely pathogenic Aplastic anemia
Shwachman-Diamond syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA4279130 rs_113993997

2 SubmittersRCV003472596RCV005254800
NM_016038.4(SBDS):c.664G>T (p.Glu222Ter) SNV
Germline		 Chr7:66988460 Likely pathogenic Shwachman-Diamond syndrome 1 Criteria Provided
Single Submitter
 rs_371133001

1 SubmittersRCV004595036
NM_016038.4(SBDS):c.129-2A>G SNV
Germline		 Chr7:66994343 Pathogenic Shwachman-Diamond syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV005255374
NM_016038.4(SBDS):c.356G>A (p.Cys119Tyr) SNV
Germline		 Chr7:66993320 Pathogenic Shwachman-Diamond syndrome 1 No Assertion Criteria Provided

1 SubmittersRCV005628215
NM_016038.4(SBDS):c.187G>A (p.Gly63Ser) SNV
Germline		 Chr7:66994283 Likely pathogenic Shwachman-Diamond syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV006258294