SBDS — 416 ClinVar variants

All ClinVar germline SBDS variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 225 flagged for review →

18 Pathogenic · 6 Pathogenic/Likely pathogenic · 28 Likely pathogenic · 11 Conflicting · 15 Benign · 6 Benign/Likely benign · 98 Likely benign · 234 Uncertain significance

Full SBDS gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 225

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors agree, ClinVar conflicts 4

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

SBDS p.Arg169Cys Conflicting Single submitter
SBDS-related disorder
SBDS p.Arg175Trp Conflicting Single submitter
Shwachman-Diamond syndrome 1
SBDS p.Ser143Leu Conflicting Single submitter
aplastic anemia
SBDS p.Thr13Asn Conflicting Single submitter
Inborn genetic diseases

Predictors lean, ClinVar uncertain 172

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 172

SBDS p.Arg22Cys Uncertain significance Multiple submitters
Inborn genetic diseases
SBDS p.Asn181Asp Uncertain significance Multiple submitters
Shwachman-Diamond syndrome 1
SBDS p.Cys216Tyr Uncertain significance Multiple submitters
Inborn genetic diseases
SBDS p.Ile111Val Uncertain significance Multiple submitters
Inborn genetic diseases
SBDS p.Lys118Asn Uncertain significance Multiple submitters
Shwachman-Diamond syndrome 1
SBDS p.Lys240Arg Uncertain significance Multiple submitters
Inborn genetic diseases
SBDS p.Thr89Ser Uncertain significance Multiple submitters
Inborn genetic diseases
SBDS p.Val36Ala Uncertain significance Multiple submitters
SBDS p.Val58Ala Uncertain significance Multiple submitters
Shwachman-Diamond syndrome 1
SBDS p.Ala112Pro Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Ala116Val Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Ala136Thr Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Ala154Pro Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Ala170Gly Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Ala66Thr Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Arg109Thr Uncertain significance Single submitter
Shwachman-Diamond syndrome 1
SBDS p.Arg11Leu Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Arg126Ile Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Arg135Lys Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Arg19Gly Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Arg26Cys Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Arg26Gly Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Arg26Ser Uncertain significance Single submitter
SBDS p.Arg40Gln Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Asn121Thr Uncertain significance Single submitter
SBDS p.Asn147Ser Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Asn14Asp Uncertain significance Single submitter
aplastic anemia
SBDS p.Asn14Tyr Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Asn181Ile Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Asn181Lys Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Asn181Ser Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Asn34Lys Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Asn59Lys Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Asn8Lys Uncertain significance Single submitter
Shwachman-Diamond syndrome 1
SBDS p.Asp117Glu Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Asp139Asn Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Asp241Asn Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Asp46Asn Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Asp70Val Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Asp78His Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Cys31Trp Uncertain significance Single submitter
SBDS p.Cys84Arg Uncertain significance Single submitter
SBDS p.Gln103Arg Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Gln106His Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Gln153Glu Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Gln205His Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Gln52His Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Gln64Arg Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Gln64His Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Gln86Arg Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Gln86Glu Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Gln94Lys Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Gln9His Uncertain significance Single submitter
Shwachman-Diamond syndrome 1
SBDS p.Glu105Gly Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Glu105Lys Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Glu105Val Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Glu123Asp Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Glu188Lys Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Glu44Gly Uncertain significance Single submitter
Shwachman-Diamond syndrome 1
SBDS p.Glu92Gln Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Glu92Lys Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Glu99Asp Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Gly183Asp Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Gly183Ser Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Gly215Asp Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Gly215Val Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Gly232Asp Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Gly24Arg Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Gly24Glu Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Gly24Val Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Gly38Ala Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Gly42Ser Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Gly63Val Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Gly91Arg Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Gly91Glu Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.His171Arg Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.His171Gln Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.His54Asp Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Ile10Leu Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Ile10Val Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Ile114Val Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Ile131Thr Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Ile133Thr Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Ile167Thr Uncertain significance Single submitter
SBDS p.Ile194Met Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Ile72Phe Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Ile72Thr Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Ile83Asn Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Ile83Thr Uncertain significance Single submitter
SBDS p.Ile87Ser Uncertain significance Single submitter
Shwachman-Diamond syndrome 1
SBDS p.Leu12Val Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Leu174His Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Leu178Pro Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Leu237His Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Leu237Val Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Leu51Pro Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Leu88Ser Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Leu88Trp Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Lys138Glu Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Lys148Arg Uncertain significance Single submitter
aplastic anemia
SBDS p.Lys148Asn Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Lys166Asn Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Lys166Glu Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Lys185Glu Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Lys225Thr Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Lys226Asn Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Lys229Glu Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Lys231Arg Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Lys25Asn Uncertain significance Single submitter
SBDS p.Lys33Arg Uncertain significance Single submitter
SBDS p.Lys67Glu Uncertain significance Single submitter
Shwachman-Diamond syndrome 1
SBDS p.Lys98Asn Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Met107Thr Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Met137Arg Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Met137Thr Uncertain significance Single submitter
Shwachman-Diamond syndrome 1
SBDS p.Met172Ile Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Met172Leu Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Met172Lys Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Met172Val Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Met20Leu Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Met20Thr Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Phe108Leu Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Phe217Ile Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Phe217Ser Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Phe249Ile Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Phe57Ser Uncertain significance Single submitter
Shwachman-Diamond syndrome 1
SBDS p.Pro122Leu Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Pro127Thr Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Pro192Ala Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Pro6Ala Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Ser149Thr Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Ser233Tyr Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Ser2Trp Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Ser41Arg Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Ser55Thr Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Ser73Arg Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Ser73Asn Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Ser73Gly Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Ser96Pro Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Thr102Ile Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Thr113Asn Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Thr124Ala Uncertain significance Single submitter
SBDS p.Thr13Ile Uncertain significance Single submitter
Shwachman-Diamond syndrome 1
SBDS p.Thr13Ser Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Thr228Ser Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Thr53Ala Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Thr5Asn Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Thr5Ser Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Thr7Ile Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Thr89Ile Uncertain significance Single submitter
Inborn genetic diseases

Predictors split 49

The independent predictors disagree with each other — read with care.

SBDS p.Arg218Gln Pathogenic/Likely pathogenic Multiple submitters
aplastic anemia
SBDS p.Asp246Asn Uncertain significance Multiple submitters
Inborn genetic diseases
SBDS p.Glu222Gln Uncertain significance Multiple submitters
Shwachman-Diamond syndrome 1
SBDS p.Ile224Thr Uncertain significance Multiple submitters
Inborn genetic diseases
SBDS p.Thr53Ile Uncertain significance Multiple submitters
Inborn genetic diseases
SBDS p.Ala136Gly Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Ala136Ser Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Ala16Thr Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Ala74Gly Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Ala74Thr Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Arg175Gln Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Asn14Ser Conflicting Single submitter
Shwachman-Diamond syndrome 1
SBDS p.Asn8Ser Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Asp79Glu Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Cys210Phe Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Glu222Ala Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Glu235Gln Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Glu244Asp Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Glu244Lys Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Glu247Lys Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Glu82Lys Uncertain significance Single submitter
SBDS p.Gly215Ser Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Gly230Ser Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Gly232Ser Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Gly232Val Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.His54Tyr Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Ile114Thr Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Ile167Met Uncertain significance Single submitter
Shwachman-Diamond syndrome 1
SBDS p.Ile212Ser Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Ile220Thr Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Ile224Met Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Leu132Phe Uncertain significance Single submitter
SBDS p.Leu132Pro Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Leu190Phe Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Leu47Val Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Lys229Asn Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Lys45Glu Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Lys67Arg Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Lys85Gln Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Met165Thr Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Met20Val Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Pro179Leu Uncertain significance Single submitter
SBDS p.Pro192Arg Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Pro214Thr Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Ser149Asn Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Thr228Ala Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Tyr128Phe Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Val209Ala Uncertain significance Single submitter
Inborn genetic diseases
SBDS p.Val50Ile Uncertain significance Single submitter
Inborn genetic diseases

All SBDS variants

Pathogenic 18

c.258+1G>C Multiple submitters SBDS-related disorder
p.Gln103fs Multiple submitters Shwachman-Diamond syndrome 1
p.Glu99fs Multiple submitters SBDS-related disorder
p.Lys62Ter Multiple submitters Shwachman-Diamond syndrome
p.Ser41fs Multiple submitters SBDS-related disorder
p.Thr7fs Multiple submitters Shwachman-Diamond syndrome 1
p.Val36fs Multiple submitters Shwachman-Diamond syndrome 1
c.129-2A>G Single submitter Shwachman-Diamond syndrome 1
c.460-1G>A Single submitter Inborn genetic diseases
c.624+1G>C Single submitter Shwachman-Diamond syndrome 1
c.625-1delG Single submitter Shwachman-Diamond syndrome 1
p.Gln205Ter Single submitter Inborn genetic diseases
p.His54fs Single submitter aplastic anemia
p.Lys62Glu Single submitter SBDS-related disorder
p.Met20fs Single submitter Inborn genetic diseases
c.258+347_459+223del No assertion criteria Shwachman-Diamond syndrome 1
p.Asn34fs No assertion criteria Shwachman-Diamond syndrome 1
p.Cys119Tyr No assertion criteria Shwachman-Diamond syndrome 1

Pathogenic/Likely pathogenic 6

c.258+2T>C Multiple submitters Fetal anomalies with a likely genetic cause
p.Arg218Gln Multiple submitters aplastic anemia ⚠
p.Arg218Ter Multiple submitters aplastic anemia
p.Lys125fs Multiple submitters SBDS-related disorder
p.Lys33Thr Multiple submitters Inborn genetic diseases
p.Thr5fs Multiple submitters aplastic anemia

Likely pathogenic 28

c.624+1G>A Multiple submitters aplastic anemia
p.Gln152fs Multiple submitters Shwachman-Diamond syndrome 1
p.Ser55Ter Multiple submitters SBDS-related disorder
p.Tyr32Cys Multiple submitters aplastic anemia
c.128+1G>A Single submitter aplastic anemia
c.128+2_128+3del Single submitter SBDS-related disorder
c.129-1G>A Single submitter SBDS-related disorder
c.129-2A>C Single submitter aplastic anemia
c.129-71_140del Single submitter aplastic anemia
c.258+2T>G Single submitter SBDS-related disorder
c.259-2A>C Single submitter aplastic anemia
c.259-2A>G Single submitter
c.624+2dup Single submitter
p.Arg175fs Single submitter aplastic anemia
p.Asn34Ile Single submitter aplastic anemia
p.Asn8fs Single submitter
p.Cys210Tyr Single submitter Shwachman-Diamond syndrome 1
p.Gln160Ter Single submitter Shwachman-Diamond syndrome 1
p.Glu222Ter Single submitter Shwachman-Diamond syndrome 1
p.Glu82fs Single submitter SBDS-related disorder
p.Gly63Ser Single submitter Shwachman-Diamond syndrome 1
p.Lys189fs Single submitter Shwachman-Diamond syndrome 1
p.Lys21Ter Single submitter SBDS-related disorder
p.Met1Ile Single submitter SBDS-related disorder
p.Trp39fs Single submitter aplastic anemia
p.Val56Ala Single submitter Shwachman-Diamond syndrome 1
p.Val58fs Single submitter aplastic anemia
p.Val196fs No assertion criteria SBDS-related disorder

Conflicting classifications of pathogenicity 11

c.129-3A>G Single submitter Shwachman-Diamond syndrome 1
c.-16T>A Single submitter
p.Arg169Cys Single submitter SBDS-related disorder ⚠
p.Arg175Trp Single submitter Shwachman-Diamond syndrome 1 ⚠
p.Asn14Ser Single submitter Shwachman-Diamond syndrome 1 ⚠
p.Glu244del Single submitter Shwachman-Diamond syndrome 1
p.Ser143Leu Single submitter aplastic anemia ⚠
p.Thr102fs Single submitter Shwachman-Diamond syndrome 1
p.Thr13Asn Single submitter Inborn genetic diseases ⚠
p.Val130Met Single submitter Shwachman-Diamond syndrome 1
p.Val43Leu Single submitter

Benign 15

c.128+80T>C Multiple submitters
c.129-71G>A Multiple submitters Shwachman-Diamond syndrome 1
c.129-76A>G Multiple submitters
c.129-87A>G Multiple submitters
c.258+54T>G Multiple submitters
c.459+92A>G Multiple submitters
c.*69G>A Multiple submitters
p.Leu47= Multiple submitters hereditary neoplastic syndrome
c.128+266G>A Single submitter
c.129-160T>G Single submitter
c.129-170G>A Single submitter
c.129-185G>A Single submitter
c.129-190A>C Single submitter
c.129-80T>C Single submitter
c.459+196T>A Single submitter

Benign/Likely benign 6

c.258+19A>G Multiple submitters aplastic anemia
p.Cys119= Multiple submitters Inborn genetic diseases
p.Ile212Thr Multiple submitters Inborn genetic diseases
p.Lys67= Multiple submitters Inborn genetic diseases
p.Phe217= Multiple submitters Inborn genetic diseases
p.Ser61= Multiple submitters Inborn genetic diseases

Likely benign 98

p.Ala23= Multiple submitters Inborn genetic diseases
p.Ala30= Multiple submitters Inborn genetic diseases
p.Leu132= Multiple submitters Inborn genetic diseases
p.Leu239= Multiple submitters Inborn genetic diseases
p.Ser143= Multiple submitters Inborn genetic diseases
p.Thr113= Multiple submitters Inborn genetic diseases
p.Thr129= Multiple submitters Inborn genetic diseases
p.Val236= Multiple submitters Inborn genetic diseases
p.Val242= Multiple submitters Inborn genetic diseases
c.128+14T>C Single submitter
c.258+48T>C Single submitter
c.259-8T>G Single submitter
c.259-9T>C Single submitter
c.459+14C>T Single submitter
c.460-16G>A Single submitter
c.625-16A>G Single submitter
p.Ala116= Single submitter Inborn genetic diseases
p.Ala16= Single submitter Inborn genetic diseases
p.Ala74= Single submitter Inborn genetic diseases
p.Arg109= Single submitter Inborn genetic diseases
p.Arg135= Single submitter Inborn genetic diseases
p.Arg175= Single submitter Inborn genetic diseases
p.Arg19= Single submitter Inborn genetic diseases
p.Arg22= Single submitter Inborn genetic diseases
p.Arg26= Single submitter Inborn genetic diseases
p.Arg40= Single submitter Inborn genetic diseases
p.Asn14= Single submitter Inborn genetic diseases
p.Asn181= Single submitter Inborn genetic diseases
p.Asp110= Single submitter Inborn genetic diseases
p.Asp117= Single submitter Inborn genetic diseases
p.Asp213= Single submitter Inborn genetic diseases
p.Asp241= Single submitter Inborn genetic diseases
p.Asp46= Single submitter Inborn genetic diseases
p.Asp79= Single submitter Inborn genetic diseases
p.Asp97= Single submitter Inborn genetic diseases
p.Cys84= Single submitter Inborn genetic diseases
p.Gln103= Single submitter Inborn genetic diseases
p.Gln80= Single submitter Inborn genetic diseases
p.Gln9= Single submitter Inborn genetic diseases
p.Glu105= Single submitter Inborn genetic diseases
p.Glu123= Single submitter Inborn genetic diseases
p.Glu134= Single submitter Inborn genetic diseases
p.Glu219= Single submitter Inborn genetic diseases
p.Glu222= Single submitter Inborn genetic diseases
p.Glu227= Single submitter Inborn genetic diseases
p.Glu243= Single submitter Inborn genetic diseases
p.Glu244= Single submitter Inborn genetic diseases
p.Glu44= Single submitter Inborn genetic diseases
p.Glu69= Single submitter Inborn genetic diseases
p.Glu92= Single submitter Inborn genetic diseases
p.Gly24= Single submitter Inborn genetic diseases
p.Gly245= Single submitter Inborn genetic diseases
p.Gly38= Single submitter Inborn genetic diseases
p.Gly63= Single submitter Inborn genetic diseases
p.His141= Single submitter Inborn genetic diseases
p.Ile10= Single submitter Inborn genetic diseases
p.Ile111= Single submitter Inborn genetic diseases
p.Ile114= Single submitter Inborn genetic diseases
p.Ile131= Single submitter Inborn genetic diseases
p.Ile133= Single submitter Inborn genetic diseases
p.Ile140= Single submitter Inborn genetic diseases
p.Ile158= Single submitter Inborn genetic diseases
p.Ile29= Single submitter Inborn genetic diseases
p.Ile87= Single submitter Inborn genetic diseases
p.Leu12= Single submitter Inborn genetic diseases
p.Leu161= Single submitter Inborn genetic diseases
p.Leu190= Single submitter Inborn genetic diseases
p.Leu193= Single submitter Inborn genetic diseases
p.Leu206= Single submitter Inborn genetic diseases
p.Leu211= Single submitter Inborn genetic diseases
p.Leu223= Single submitter Inborn genetic diseases
p.Leu237= Single submitter Inborn genetic diseases
p.Leu51= Single submitter Inborn genetic diseases
p.Leu88= Single submitter Inborn genetic diseases
p.Lys148= Single submitter Inborn genetic diseases
p.Lys68= Single submitter Inborn genetic diseases
p.Lys90= Single submitter Inborn genetic diseases
p.Lys98= Single submitter Inborn genetic diseases
p.Phe27= Single submitter Inborn genetic diseases
p.Pro122= Single submitter Inborn genetic diseases
p.Pro127= Single submitter Inborn genetic diseases
p.Pro214= Single submitter Inborn genetic diseases
p.Pro6= Single submitter Inborn genetic diseases
p.Ser149= Single submitter Inborn genetic diseases
p.Ser199= Single submitter Inborn genetic diseases
p.Ser2= Single submitter Inborn genetic diseases
p.Ser55= Single submitter Inborn genetic diseases
p.Thr5= Single submitter Inborn genetic diseases
p.Thr77= Single submitter Inborn genetic diseases
p.Thr89= Single submitter Inborn genetic diseases
p.Val115= Single submitter
p.Val157= Single submitter Inborn genetic diseases
p.Val17= Single submitter Inborn genetic diseases
p.Val18= Single submitter Inborn genetic diseases
p.Val180= Single submitter Inborn genetic diseases
p.Val209= Single submitter Inborn genetic diseases
p.Val36= Single submitter
p.Val50= Single submitter Inborn genetic diseases

Uncertain significance 234

p.Arg22Cys Multiple submitters Inborn genetic diseases ⚠
p.Asn181Asp Multiple submitters Shwachman-Diamond syndrome 1 ⚠
p.Asp246Asn Multiple submitters Inborn genetic diseases ⚠
p.Cys216Tyr Multiple submitters Inborn genetic diseases ⚠
p.Glu222Gln Multiple submitters Shwachman-Diamond syndrome 1 ⚠
p.Ile111Val Multiple submitters Inborn genetic diseases ⚠
p.Ile224Thr Multiple submitters Inborn genetic diseases ⚠
p.Lys118Asn Multiple submitters Shwachman-Diamond syndrome 1 ⚠
p.Lys240Arg Multiple submitters Inborn genetic diseases ⚠
p.Thr129Ser Multiple submitters Inborn genetic diseases
p.Thr53Ile Multiple submitters Inborn genetic diseases ⚠
p.Thr89Ser Multiple submitters Inborn genetic diseases ⚠
p.Val36Ala Multiple submitters ⚠
p.Val58Ala Multiple submitters Shwachman-Diamond syndrome 1 ⚠
c.128+3G>C Single submitter Shwachman-Diamond syndrome 1
c.258+6T>C Single submitter
p.Ala112Pro Single submitter Inborn genetic diseases ⚠
p.Ala116Val Single submitter Inborn genetic diseases ⚠
p.Ala136Gly Single submitter Inborn genetic diseases ⚠
p.Ala136Ser Single submitter Inborn genetic diseases ⚠
p.Ala136Thr Single submitter Inborn genetic diseases ⚠
p.Ala154Pro Single submitter Inborn genetic diseases ⚠
p.Ala16Thr Single submitter Inborn genetic diseases ⚠
p.Ala170Gly Single submitter Inborn genetic diseases ⚠
p.Ala66Thr Single submitter Inborn genetic diseases ⚠
p.Ala74Gly Single submitter Inborn genetic diseases ⚠
p.Ala74Thr Single submitter Inborn genetic diseases ⚠
p.Arg109Thr Single submitter Shwachman-Diamond syndrome 1 ⚠
p.Arg11Leu Single submitter Inborn genetic diseases ⚠
p.Arg126Ile Single submitter Inborn genetic diseases ⚠
p.Arg126Lys Single submitter Inborn genetic diseases
p.Arg135Lys Single submitter Inborn genetic diseases ⚠
p.Arg175Gln Single submitter Inborn genetic diseases ⚠
p.Arg19Gly Single submitter Inborn genetic diseases ⚠
p.Arg26_Phe27insProGlySerAla Single submitter hereditary neoplastic syndrome
p.Arg26Cys Single submitter Inborn genetic diseases ⚠
p.Arg26Gly Single submitter Inborn genetic diseases ⚠
p.Arg26Ser Single submitter ⚠
p.Arg40Gln Single submitter Inborn genetic diseases ⚠
p.Asn121Thr Single submitter ⚠
p.Asn147Ser Single submitter Inborn genetic diseases ⚠
p.Asn14Asp Single submitter aplastic anemia ⚠
p.Asn14Tyr Single submitter Inborn genetic diseases ⚠
p.Asn181Ile Single submitter Inborn genetic diseases ⚠
p.Asn181Lys Single submitter Inborn genetic diseases ⚠
p.Asn181Ser Single submitter Inborn genetic diseases ⚠
p.Asn34Lys Single submitter Inborn genetic diseases ⚠
p.Asn59Lys Single submitter Inborn genetic diseases ⚠
p.Asn8Lys Single submitter Shwachman-Diamond syndrome 1 ⚠
p.Asn8Ser Single submitter Inborn genetic diseases ⚠
p.Asp117Glu Single submitter Inborn genetic diseases ⚠
p.Asp139Asn Single submitter Inborn genetic diseases ⚠
p.Asp241Asn Single submitter Inborn genetic diseases ⚠
p.Asp46Asn Single submitter Inborn genetic diseases ⚠
p.Asp70Val Single submitter Inborn genetic diseases ⚠
p.Asp78His Single submitter Inborn genetic diseases ⚠
p.Asp79Glu Single submitter Inborn genetic diseases ⚠
p.Cys210Phe Single submitter Inborn genetic diseases ⚠
p.Cys31Trp Single submitter ⚠
p.Cys84Arg Single submitter ⚠
p.Gln103Arg Single submitter Inborn genetic diseases ⚠
p.Gln106His Single submitter Inborn genetic diseases ⚠
p.Gln153Glu Single submitter Inborn genetic diseases ⚠
p.Gln205His Single submitter Inborn genetic diseases ⚠
p.Gln52His Single submitter Inborn genetic diseases ⚠
p.Gln64Arg Single submitter Inborn genetic diseases ⚠
p.Gln64His Single submitter Inborn genetic diseases ⚠
p.Gln86Arg Single submitter Inborn genetic diseases ⚠
p.Gln86Glu Single submitter Inborn genetic diseases ⚠
p.Gln94Lys Single submitter Inborn genetic diseases ⚠
p.Gln9His Single submitter Shwachman-Diamond syndrome 1 ⚠
p.Glu105Gly Single submitter Inborn genetic diseases ⚠
p.Glu105Lys Single submitter Inborn genetic diseases ⚠
p.Glu105Val Single submitter Inborn genetic diseases ⚠
p.Glu123Asp Single submitter Inborn genetic diseases ⚠
p.Glu188del Single submitter
p.Glu188Lys Single submitter Inborn genetic diseases ⚠
p.Glu222Ala Single submitter Inborn genetic diseases ⚠
p.Glu235Gln Single submitter Inborn genetic diseases ⚠
p.Glu244Asp Single submitter Inborn genetic diseases ⚠
p.Glu244Lys Single submitter Inborn genetic diseases ⚠
p.Glu247Lys Single submitter Inborn genetic diseases ⚠
p.Glu44Gly Single submitter Shwachman-Diamond syndrome 1 ⚠
p.Glu82Lys Single submitter ⚠
p.Glu92Gln Single submitter Inborn genetic diseases ⚠
p.Glu92Lys Single submitter Inborn genetic diseases ⚠
p.Glu99Asp Single submitter Inborn genetic diseases ⚠
p.Gly183Asp Single submitter Inborn genetic diseases ⚠
p.Gly183Ser Single submitter Inborn genetic diseases ⚠
p.Gly215Asp Single submitter Inborn genetic diseases ⚠
p.Gly215Ser Single submitter Inborn genetic diseases ⚠
p.Gly215Val Single submitter Inborn genetic diseases ⚠
p.Gly230Ser Single submitter Inborn genetic diseases ⚠
p.Gly232Asp Single submitter Inborn genetic diseases ⚠
p.Gly232Ser Single submitter Inborn genetic diseases ⚠
p.Gly232Val Single submitter Inborn genetic diseases ⚠
p.Gly24Arg Single submitter Inborn genetic diseases ⚠
p.Gly24Glu Single submitter Inborn genetic diseases ⚠
p.Gly24Val Single submitter Inborn genetic diseases ⚠
p.Gly38Ala Single submitter Inborn genetic diseases ⚠
p.Gly42Ser Single submitter Inborn genetic diseases ⚠
p.Gly63Val Single submitter Inborn genetic diseases ⚠
p.Gly91Arg Single submitter Inborn genetic diseases ⚠
p.Gly91Glu Single submitter Inborn genetic diseases ⚠
p.His171Arg Single submitter Inborn genetic diseases ⚠
p.His171Gln Single submitter Inborn genetic diseases ⚠
p.His54Asp Single submitter Inborn genetic diseases ⚠
p.His54Gln Single submitter Inborn genetic diseases
p.His54Tyr Single submitter Inborn genetic diseases ⚠
p.Ile10Leu Single submitter Inborn genetic diseases ⚠
p.Ile10Val Single submitter Inborn genetic diseases ⚠
p.Ile114Thr Single submitter Inborn genetic diseases ⚠
p.Ile114Val Single submitter Inborn genetic diseases ⚠
p.Ile131Thr Single submitter Inborn genetic diseases ⚠
p.Ile133Thr Single submitter Inborn genetic diseases ⚠
p.Ile167Met Single submitter Shwachman-Diamond syndrome 1 ⚠
p.Ile167Thr Single submitter ⚠
p.Ile194Met Single submitter Inborn genetic diseases ⚠
p.Ile212Ser Single submitter Inborn genetic diseases ⚠
p.Ile220Thr Single submitter Inborn genetic diseases ⚠
p.Ile224Met Single submitter Inborn genetic diseases ⚠
p.Ile72Phe Single submitter Inborn genetic diseases ⚠
p.Ile72Thr Single submitter Inborn genetic diseases ⚠
p.Ile83Asn Single submitter Inborn genetic diseases ⚠
p.Ile83Thr Single submitter ⚠
p.Ile87Ser Single submitter Shwachman-Diamond syndrome 1 ⚠
p.Leu12Val Single submitter Inborn genetic diseases ⚠
p.Leu132Phe Single submitter ⚠
p.Leu132Pro Single submitter Inborn genetic diseases ⚠
p.Leu174His Single submitter Inborn genetic diseases ⚠
p.Leu178Pro Single submitter Inborn genetic diseases ⚠
p.Leu190Phe Single submitter Inborn genetic diseases ⚠
p.Leu237His Single submitter Inborn genetic diseases ⚠
p.Leu237Val Single submitter Inborn genetic diseases ⚠
p.Leu47Val Single submitter Inborn genetic diseases ⚠
p.Leu51Pro Single submitter Inborn genetic diseases ⚠
p.Leu88Ser Single submitter Inborn genetic diseases ⚠
p.Leu88Trp Single submitter Inborn genetic diseases ⚠
p.Lys125Asn Single submitter Inborn genetic diseases
p.Lys138Glu Single submitter Inborn genetic diseases ⚠
p.Lys148Arg Single submitter aplastic anemia ⚠
p.Lys148Asn Single submitter Inborn genetic diseases ⚠
p.Lys166Asn Single submitter Inborn genetic diseases ⚠
p.Lys166Glu Single submitter Inborn genetic diseases ⚠
p.Lys185Glu Single submitter Inborn genetic diseases ⚠
p.Lys225Asn Single submitter Inborn genetic diseases
p.Lys225Thr Single submitter Inborn genetic diseases ⚠
p.Lys226Asn Single submitter Inborn genetic diseases ⚠
p.Lys229Asn Single submitter Inborn genetic diseases ⚠
p.Lys229Glu Single submitter Inborn genetic diseases ⚠
p.Lys231Arg Single submitter Inborn genetic diseases ⚠
p.Lys25Asn Single submitter ⚠
p.Lys33Arg Single submitter ⚠
p.Lys45Glu Single submitter Inborn genetic diseases ⚠
p.Lys67Arg Single submitter Inborn genetic diseases ⚠
p.Lys67Glu Single submitter Shwachman-Diamond syndrome 1 ⚠
p.Lys85Gln Single submitter Inborn genetic diseases ⚠
p.Lys98Asn Single submitter Inborn genetic diseases ⚠
p.Met107Ile Single submitter Inborn genetic diseases
p.Met107Thr Single submitter Inborn genetic diseases ⚠
p.Met137Arg Single submitter Inborn genetic diseases ⚠
p.Met137Thr Single submitter Shwachman-Diamond syndrome 1 ⚠
p.Met165Thr Single submitter Inborn genetic diseases ⚠
p.Met172Ile Single submitter Inborn genetic diseases ⚠
p.Met172Leu Single submitter Inborn genetic diseases ⚠
p.Met172Lys Single submitter Inborn genetic diseases ⚠
p.Met172Val Single submitter Inborn genetic diseases ⚠
p.Met20Ile Single submitter Inborn genetic diseases
p.Met20Leu Single submitter Inborn genetic diseases ⚠
p.Met20Thr Single submitter Inborn genetic diseases ⚠
p.Met20Val Single submitter Inborn genetic diseases ⚠
p.Phe108Leu Single submitter Inborn genetic diseases ⚠
p.Phe176= Single submitter
p.Phe217Ile Single submitter Inborn genetic diseases ⚠
p.Phe217Ser Single submitter Inborn genetic diseases ⚠
p.Phe249Ile Single submitter Inborn genetic diseases ⚠
p.Phe57Ser Single submitter Shwachman-Diamond syndrome 1 ⚠
p.Pro122Leu Single submitter Inborn genetic diseases ⚠
p.Pro127Thr Single submitter Inborn genetic diseases ⚠
p.Pro179Leu Single submitter ⚠
p.Pro192Ala Single submitter Inborn genetic diseases ⚠
p.Pro192Arg Single submitter Inborn genetic diseases ⚠
p.Pro214Thr Single submitter Inborn genetic diseases ⚠
p.Pro6Ala Single submitter Inborn genetic diseases ⚠
p.Ser149Asn Single submitter Inborn genetic diseases ⚠
p.Ser149Thr Single submitter Inborn genetic diseases ⚠
p.Ser233Tyr Single submitter Inborn genetic diseases ⚠
p.Ser2Trp Single submitter Inborn genetic diseases ⚠
p.Ser41Arg Single submitter Inborn genetic diseases ⚠
p.Ser55Thr Single submitter Inborn genetic diseases ⚠
p.Ser73Arg Single submitter Inborn genetic diseases ⚠
p.Ser73Asn Single submitter Inborn genetic diseases ⚠
p.Ser73Gly Single submitter Inborn genetic diseases ⚠
p.Ser96Pro Single submitter Inborn genetic diseases ⚠
p.Thr102Ile Single submitter Inborn genetic diseases ⚠
p.Thr113Asn Single submitter Inborn genetic diseases ⚠
p.Thr124Ala Single submitter ⚠
p.Thr13Ile Single submitter Shwachman-Diamond syndrome 1 ⚠
p.Thr13Ser Single submitter Inborn genetic diseases ⚠
p.Thr228Ala Single submitter Inborn genetic diseases ⚠
p.Thr228Ser Single submitter Inborn genetic diseases ⚠
p.Thr53Ala Single submitter Inborn genetic diseases ⚠
p.Thr53Ser Single submitter Inborn genetic diseases
p.Thr5Asn Single submitter Inborn genetic diseases ⚠
p.Thr5Ser Single submitter Inborn genetic diseases ⚠
p.Thr7Ile Single submitter Inborn genetic diseases ⚠
p.Thr7Ser Single submitter Inborn genetic diseases
p.Thr89Ile Single submitter Inborn genetic diseases ⚠
p.Trp39Arg Single submitter Inborn genetic diseases ⚠
p.Trp39Cys Single submitter Inborn genetic diseases ⚠
p.Tyr128His Single submitter Inborn genetic diseases ⚠
p.Tyr128Phe Single submitter Inborn genetic diseases ⚠
p.Tyr202Cys Single submitter Inborn genetic diseases ⚠
p.Val115Leu Single submitter Inborn genetic diseases ⚠
p.Val144Ala Single submitter Inborn genetic diseases ⚠
p.Val157Leu Single submitter Inborn genetic diseases ⚠
p.Val157Met Single submitter Inborn genetic diseases ⚠
p.Val180Ile Single submitter Inborn genetic diseases ⚠
p.Val18Ala Single submitter Inborn genetic diseases ⚠
p.Val18Glu Single submitter Inborn genetic diseases ⚠
p.Val196Phe Single submitter Inborn genetic diseases ⚠
p.Val209Ala Single submitter Inborn genetic diseases ⚠
p.Val236Ile Single submitter Inborn genetic diseases ⚠
p.Val236Leu Single submitter Inborn genetic diseases
p.Val37Ile Single submitter Inborn genetic diseases ⚠
p.Val37Leu Single submitter Inborn genetic diseases ⚠
p.Val50Ala Single submitter Inborn genetic diseases ⚠
p.Val50Ile Single submitter Inborn genetic diseases ⚠
p.Val50Leu Single submitter Inborn genetic diseases ⚠
p.Val56Leu Single submitter Inborn genetic diseases ⚠
p.Val56Met Single submitter ⚠
p.Val60Ala Single submitter Inborn genetic diseases ⚠
p.Val65Asp Single submitter Inborn genetic diseases ⚠
p.Val93Leu Single submitter Inborn genetic diseases ⚠