Sugi Variant

Sugi Variant/CSF3R

CSF3R — 754 ClinVar variants

All ClinVar germline CSF3R variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 374 flagged for review →

29 Pathogenic · 6 Pathogenic/Likely pathogenic · 14 Likely pathogenic · 28 Conflicting · 24 Benign · 15 Benign/Likely benign · 241 Likely benign · 397 Uncertain significance

Full CSF3R gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 374

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 vs ClinVar 2

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 13

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

Predictors lean, ClinVar uncertain 198

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 198

Predictors split 161

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 161

All CSF3R variants

Pathogenic 29

  • p.Trp63Ter Multiple submitters autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • c.1072-1G>C Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Arg311_Trp312insTer Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Arg440Ter Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Arg74fs Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Asn412fs Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Cys26Ter Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Gln257Ter Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Gln369Ter Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Gln498fs Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Gln509Ter Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Gln754Ter Single submitter
  • p.Glu267fs Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Glu68fs Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.His712Tyr Single submitter ⚠
  • p.Leu545fs Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Leu99fs Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Met231fs Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Pro215_Leu217delinsTer Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Ser238fs Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Ser469fs Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Thr335fs Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Trp11Ter Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Trp279Ter Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Trp463Ter Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Val406fs Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.His317fs No assertion criteria autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Thr416fs No assertion criteria autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Thr640Asn No assertion criteria hereditary neutrophilia ⚠

Pathogenic/Likely pathogenic 6

  • c.1072-1G>A Multiple submitters autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • c.843+2T>C Multiple submitters hereditary neutrophilia
  • p.Arg308Cys Multiple submitters autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Gln114Ter Multiple submitters autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Thr618Ile Multiple submitters autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Trp547Ter Multiple submitters Inherited Immunodeficiency Diseases

Likely pathogenic 14

  • c.1072-2A>C Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • c.1576+2T>A Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • c.1577-1G>A Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • c.361+1G>T Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • c.65-1G>A Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • c.65-2A>C Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • c.998-1G>A Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • c.998-2A>T Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Ala530fs Single submitter
  • p.Cys643Ter Single submitter
  • p.Gly513fs Single submitter
  • p.Trp709Ter Single submitter
  • c.1576+1G>A No assertion criteria severe congenital neutropenia
  • p.Gln204Ter No assertion criteria

Conflicting classifications of pathogenicity 28

  • c.1286-3C>T Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • c.1864+12C>T Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • c.2041-30C>T Single submitter hereditary neutrophilia
  • p.Ala778= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Arg190His Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Arg367= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Arg418His Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Arg583His Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Asn571Asp Single submitter Inborn genetic diseases ⚠
  • p.Asn610Ile Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Asn789= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Cys187Ser Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Gln739Ter Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Gln741Ter Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Gln749Ter Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Glu149Asp Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Gly366Arg Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Gly555= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Gly634Ser Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.His91Arg Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Leu175Pro Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Leu338= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Leu587= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Leu619Ser Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Met222Val Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Met235Thr Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Pro57Leu Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Thr640Ile Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠

Benign 24

Benign/Likely benign 15

  • c.1577-12C>G Multiple submitters autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • c.2041-75G>A Multiple submitters
  • p.Ala470= Multiple submitters autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Arg440Gln Multiple submitters autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Asp320Asn Multiple submitters autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Asp510His Multiple submitters autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Gln346Arg Multiple submitters autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Glu405Lys Multiple submitters autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Glu808Lys Multiple submitters autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.His828= Multiple submitters autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Met231Thr Multiple submitters autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Thr486= Multiple submitters autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Thr563= Multiple submitters autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Tyr562His Multiple submitters autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Val36= Multiple submitters autosomal recessive severe congenital neutropenia due to CSF3R deficiency

Likely benign 241

  • c.1958+19C>T Multiple submitters autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • c.2041-35T>C Multiple submitters
  • p.Asn568= Multiple submitters autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Cys295= Multiple submitters autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Glu68= Multiple submitters autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Leu78= Multiple submitters autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Pro421= Multiple submitters autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Ser737= Multiple submitters autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Ser747= Multiple submitters autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Val31= Multiple submitters autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • c.1071+13G>A Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • c.1071+8C>T Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • c.1072-14C>G Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • c.1072-15T>C Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • c.1072-18T>C Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • c.1072-8C>A Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • c.1072-9G>A Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • c.1285+12T>A Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • c.1285+17G>T Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • c.1286-4C>T Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • c.1474+15G>C Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • c.1474+16A>G Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • c.1474+19G>A Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • c.1474+19G>T Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • c.1576+11T>C Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • c.1577-20G>A Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • c.1723+10T>C Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • c.1723+13T>G Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • c.1723+19C>T Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • c.1723+20C>T Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • c.1724-10C>A Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • c.1724-15G>A Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • c.1724-7C>T Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • c.1724-9C>T Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • c.1864+13G>A Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • c.1864+17G>A Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • c.1865-16C>A Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • c.1865-19G>C Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • c.1865-20C>T Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • c.1865-4G>A Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • c.1958+11T>C Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • c.1958+18A>G Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • c.1958+20C>G Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • c.1959-13C>A Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • c.1959-6C>T Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • c.2040+13G>A Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • c.2040+15G>A Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • c.2040+15G>T Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • c.2040+20del Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • c.2041-46G>A Single submitter
  • c.2041-76C>T Single submitter
  • c.361+12C>T Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • c.361+15C>T Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • c.361+17A>C Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • c.485+13C>T Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • c.485+18C>T Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • c.485+19C>T Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • c.485+8G>A Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • c.486-14T>G Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • c.486-17G>A Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • c.64+18T>C Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • c.64+7del Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • c.65-6C>A Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • c.65-8C>T Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • c.673+12A>G Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • c.673+15G>A Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • c.673+16G>A Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • c.673+20G>A Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • c.673+7G>A Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • c.674-10C>T Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • c.674-15C>T Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • c.843+17C>A Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • c.843+19T>A Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • c.843+19T>C Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • c.843+9G>A Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • c.844-8C>G Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • c.997+13T>A Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • c.997+13T>C Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • c.997+18G>A Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • c.998-18_998-17dup Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • c.998-19C>T Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Ala241= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Ala33= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Ala414= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Ala439= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Ala470Thr Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Ala576= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Arg118= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Arg332= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Arg434= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Asn51= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Asn818= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Asp348= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Asp510= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Asp56= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Asp702= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Asp809= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Cys177= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Cys186= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Cys187= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Cys26= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Cys309= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Cys395= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Cys649= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Gln204= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Gln250= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Gln291= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Gln306= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Gln404= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Gln516= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Gln60= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Gln605= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Gln741= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Glu145= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Glu206= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Glu254= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Glu363= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Glu392= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Glu450= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Glu492= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Glu591= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Glu679= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Glu710= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Gly182= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Gly259= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Gly415= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Gly466= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Gly584= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Gly623= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Gly66= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Gly719= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Gly745= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Gly763= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.His436= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.His529= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.His561= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.His588= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.His712= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.His91= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Ile111= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Ile16= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Ile174= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Ile35= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Ile42= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Ile502= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Ile503= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Leu109= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Leu132= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Leu140= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Leu152= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Leu17= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Leu19= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Leu209= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Leu217= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Leu227= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Leu281= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Leu285= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Leu297= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Leu361= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Leu38= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Leu399= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Leu408= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Leu535= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Leu578= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Leu614= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Leu62= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Leu637= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Leu638= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Leu642= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Leu648= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Leu65= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Leu670= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Leu720= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Leu729= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Leu756= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Leu797= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Leu817= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Leu99= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Lys536= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Lys705= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Phe633= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Phe819= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Pro122= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Pro126= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Pro146= Single submitter
  • p.Pro20= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Pro221= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Pro255= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Pro272= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Pro313= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Pro421Leu Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Pro452= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Pro468= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Pro506= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Pro57= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Pro592= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Pro706= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Pro71= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Pro721= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Pro775= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Pro796= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Pro803Ser Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Pro90= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Ser108= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Ser138Asn Single submitter Inborn genetic diseases
  • p.Ser30= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Ser319= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Ser365= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Ser469= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Ser515= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Ser575= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Ser604= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Ser624= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Ser783= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Ser786= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Thr301= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Thr329= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Thr330= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Thr560= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Thr609= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Thr676= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Thr690= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Thr697= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Thr760= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Thr82= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Thr95= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Tyr459= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Tyr519= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Tyr562= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Val115Ala Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Val282= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Val372= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Val373= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Val504= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Val698= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Val707= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Val724= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Val801= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • c.2041-29G>A No assertion criteria CSF3R-related disorder
  • c.2041-89C>T No assertion criteria CSF3R-related disorder
  • p.Asp181= No assertion criteria CSF3R-related disorder

Uncertain significance 397

Showing the top 300 by review status; the full set is in the sitemap.

  • p.Ala119Thr Multiple submitters autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Ala12Gly Multiple submitters autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Ala241Val Multiple submitters autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Ala33Asp Multiple submitters Inborn genetic diseases ⚠
  • p.Ala593Thr Multiple submitters autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Ala778Val Multiple submitters Inborn genetic diseases ⚠
  • p.Arg164Gln Multiple submitters autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Arg233Gln Multiple submitters autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Arg269Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg274Cys Multiple submitters autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Arg308His Multiple submitters autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Arg311His Multiple submitters autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Arg332Gln Multiple submitters autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Arg332Trp Multiple submitters autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Arg343Gln Multiple submitters autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Arg343Trp Multiple submitters autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Arg428Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Arg495Thr Multiple submitters autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Arg77His Multiple submitters autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Arg826Trp Multiple submitters autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Asn453Ser Multiple submitters autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Asn610His Multiple submitters autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Asp732Asn Multiple submitters autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Asp810Asn Multiple submitters autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Cys187Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Cys718Phe Multiple submitters autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Cys770Tyr Multiple submitters autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Gln216His Multiple submitters autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Glu149Lys Multiple submitters autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Glu267Asp Multiple submitters autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Glu276Lys Multiple submitters autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Glu710Asp Multiple submitters autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Glu84Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Gly21Arg Multiple submitters autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Gly27Arg Multiple submitters autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Gly555Glu Multiple submitters autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Gly644Glu Multiple submitters autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Gly671Ser Multiple submitters autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Gly73Ser Multiple submitters autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Gly765Arg Multiple submitters autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.His54Tyr Multiple submitters Inborn genetic diseases ⚠
  • p.His599Asn Multiple submitters autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Ile35Val Multiple submitters hereditary neutrophilia ⚠
  • p.Ile48Val Multiple submitters autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Ile538Thr Multiple submitters autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Ile629Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Leu109Pro Multiple submitters autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Leu14Val Multiple submitters autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Leu305Val Multiple submitters Inborn genetic diseases ⚠
  • p.Leu325Val Multiple submitters CSF3R-related disorder ⚠
  • p.Leu696Phe Multiple submitters Inborn genetic diseases ⚠
  • p.Leu723Val Multiple submitters autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Leu751Phe Multiple submitters autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Leu92Val Multiple submitters Inborn genetic diseases ⚠
  • p.Met231Ile Multiple submitters hereditary neutrophilia ⚠
  • p.Met235Val Multiple submitters Inborn genetic diseases ⚠
  • p.Pro229His Multiple submitters autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Pro272Gln Multiple submitters autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Pro284Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro323Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Pro34Leu Multiple submitters autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Pro442Leu Multiple submitters autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Pro691Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro692Ser Multiple submitters autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Pro706Leu Multiple submitters autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Ser108Gly Multiple submitters autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Ser322Gly Multiple submitters autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Ser413Leu Multiple submitters autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Ser471Lys Multiple submitters autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Ser624Leu Multiple submitters autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Ser711Phe Multiple submitters autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Thr154Ile Multiple submitters autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Thr304Asn Multiple submitters autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Thr486Ala Multiple submitters autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Thr486Met Multiple submitters autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Thr802Ile Multiple submitters autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Thr88Asn Multiple submitters autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Trp542Arg Multiple submitters autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Tyr508His Multiple submitters autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Tyr787Cys Multiple submitters autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Val373Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Val662Ile Multiple submitters autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • c.1071+1_1071+5dup Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • c.1071+5C>T Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • c.1072-10T>C Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • c.1072-3C>T Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • c.1285+3A>G Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • c.1474+3G>A Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • c.1475-3C>A Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • c.1475-3C>G Single submitter
  • c.1723+4A>G Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • c.1724-20T>C Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • c.1724-6T>G Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • c.1864+6G>A Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • c.1864+7G>T Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • c.1865-19G>A Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • c.1958+3G>A Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • c.1959-4C>G Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • c.2040+4A>G Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • c.2041-164_2132dup Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • c.362-27_362-18del Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • c.485+6G>C Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • c.486-5G>A Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • c.64+3G>A Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • c.673+4G>A Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • c.843+3G>A Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • c.844-3C>T Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • c.844-8C>A Single submitter
  • c.998-3C>T Single submitter
  • c.*161G>A Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • c.*173G>T Single submitter CSF3R-related disorder
  • p.Ala119Ser Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Ala208= Single submitter
  • p.Ala208Glu Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Ala208Thr Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Ala208Val Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Ala246Val Single submitter ⚠
  • p.Ala280Val Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Ala333Ser Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Ala333Thr Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Ala333Val Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Ala33Thr Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Ala381Thr Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Ala410Asp Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Ala431Val Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Ala470Val Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Ala520Asn Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Ala530Val Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Ala576Thr Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Ala603Ser Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Ala646Thr Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Ala778Glu Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Ala794Val Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Ala832Glu Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Ala832Lys Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Ala832Val Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Arg118His Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Arg164Trp Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Arg190Cys Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Arg190Ser Single submitter Inborn genetic diseases ⚠
  • p.Arg233Trp Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Arg269His Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Arg269Ser Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Arg274His Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Arg311Cys Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Arg332Pro Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Arg350Ser Single submitter Inborn genetic diseases ⚠
  • p.Arg367Gln Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Arg367Trp Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Arg495Ser Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Arg583Cys Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Arg654Lys Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Arg769Cys Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Arg769His Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Arg769Leu Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Arg77Cys Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Arg826Gln Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Asn104Lys Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Asn263His Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Asn51Lys Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Asn610Ser Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Asp348Glu Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Asp56Asn Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Asp748Asn Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Asp771Asn Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Asp80Tyr Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Asp810Gly Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Cys102Arg Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Cys131Tyr Single submitter ⚠
  • p.Cys142Phe Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Cys46Phe Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Cys643Tyr Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Cys811Gly Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Gln143His Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Gln245Leu Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Gln346Pro Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Gln380His Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Gln523His Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Gln544Glu Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Gln544Lys Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Gln730fs Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Gln741Arg Single submitter ⚠
  • p.Gln743Ter Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Gln774Ter Single submitter
  • p.Gln807Arg Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Glu206Gly Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Glu24Lys Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Glu267Lys Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Glu267Val Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Glu331Lys Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Glu426Asp Single submitter Inborn genetic diseases ⚠
  • p.Glu426Lys Single submitter ⚠
  • p.Glu450Lys Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Glu450Met Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Glu462Gln Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Glu501Asp Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Glu501Lys Single submitter Inborn genetic diseases ⚠
  • p.Glu524Lys Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Glu591Ala Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Glu591Lys Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Glu680fs Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Glu680Gln Single submitter Inborn genetic diseases ⚠
  • p.Glu680Lys Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Glu68Gly Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Glu701Lys Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Glu710Lys Single submitter ⚠
  • p.Glu808Gly Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Gly182Arg Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Gly21Ala Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Gly247Ala Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Gly247Arg Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Gly283Cys Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Gly296Arg Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Gly382Arg Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Gly415Arg Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Gly415Glu Single submitter Inborn genetic diseases ⚠
  • p.Gly429Ser Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Gly458Arg Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Gly458Ser Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Gly539Asp Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Gly584Asp Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Gly589Ser Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Gly5Ala Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Gly623Trp Single submitter ⚠
  • p.Gly687Asp Single submitter Inborn genetic diseases ⚠
  • p.Gly687Ser Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Gly72Arg Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Gly72Trp Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Gly731Glu Single submitter ⚠
  • p.Gly745Ala Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Gly753Arg Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Gly757Ala Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Gly779Asp Single submitter Inborn genetic diseases ⚠
  • p.Gly798Glu Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Gly814Glu Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.His127Gln Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.His185Gln Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.His192Gln Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.His261Arg Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.His436Leu Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.His54Asp Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.His561Asp Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.His597Arg Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.His828Arg Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.His94Arg Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.His94Asp Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Ile174Val Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Ile368Thr Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Ile42Phe Single submitter Inborn genetic diseases ⚠
  • p.Ile538Val Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Ile598Thr Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Ile628Asn Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Ile677Val Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Leu109Met Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Leu14Pro Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Leu194Pro Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Leu227Pro Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Leu281Gln Single submitter Inborn genetic diseases ⚠
  • p.Leu285Arg Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Leu385Pro Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Leu393Pro Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Leu408Phe Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Leu545Met Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Leu55Val Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Leu614Phe Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Leu635Val Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Leu639_Thr640insLeu Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Leu817Pro Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Leu821Val Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Leu92Phe Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Leu9Arg Single submitter Inborn genetic diseases ⚠
  • p.Lys162Gln Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Lys180Gln Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Lys271Arg Single submitter Inborn genetic diseases ⚠
  • p.Lys491= Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • p.Lys49Arg Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Lys536Asn Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Lys556Arg Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Lys556Glu Single submitter ⚠
  • p.Lys704Asn Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Met222Thr Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Met235Ile Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Met512Val Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Met525Ile Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Met617Arg Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Phe424Leu Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Phe585Val Single submitter Inborn genetic diseases ⚠
  • p.Phe819Ile Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Phe819Leu Single submitter Inborn genetic diseases ⚠
  • p.Pro146Leu Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Pro148Ser Single submitter Inborn genetic diseases ⚠
  • p.Pro229Ser Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Pro230Leu Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Pro299Leu Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Pro313Ser Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Pro323Thr Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Pro349Ser Single submitter Inborn genetic diseases ⚠
  • p.Pro360Ser Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Pro360Thr Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠
  • p.Pro377Ser Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency ⚠